| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Optic disc pallor 0.5845052422794814 4.1041727493250235 4.057641899390951e-05 0.1730936265558586 0.0011313092057587 58 Q9Y4W6,Q9UG56,O43676,O96000,Q9H3H5,Q9NPL8,P03886,Q9H061,Q6P4Q7,Q13277,Q9NX14,Q8N183,Q9H6K4,Q9GZY8,O14521,Q8IUX1,Q9Y6M9,Q9Y287,P51798,O60313,Q96S66,Q86Y39,Q8WWV3 23 |
| Hyperesthesia 0.9533242876526392 4.0114212248943835 6.0354315929433966e-05 0.2462602632064286 0.0015281060314241 2 P07602 1 |
| Atlantoaxial instability 0.9476255088195324 3.9847562314206337 6.754943339792874e-05 0.2712410301781201 0.0016479247189369 2 Q7RTS9 1 |
| Negativism 0.9408412483039256 3.9528982021830177 7.721029031215743e-05 0.3034857051973403 0.0017728088226575 2 Q9BQE5 1 |
| Social and occupational deterioration 0.9408412483039256 3.9528982021830177 7.721029031215743e-05 0.3034857051973403 0.0017728088226575 2 Q9BQE5 1 |
| Hamstring contractures 0.9383989145183176 3.941398770999229 8.100782178255272e-05 0.3157664736869578 0.0018427230227127 2 O60313 1 |
| Abnormal circulating lipid concentration 0.5160557654282707 3.8868662622417256 0.0001015466628155 0.3785306716921112 0.0020770505180271 88 Q9BTV4,Q8N511,Q9Y4P3,P07602,P40855,O95470,Q9Y5Y5,Q03252,O43772,P61916,P23786,Q8NI22,Q15392,Q9UJS0,Q9NZJ7,P50416,Q9NVI7,O75844,P06280,Q15125,O75431,O75845,O75880,P02545,P50402,Q14739,P37268,O75381,P40939,P33897,Q9UBM7,Q15800,Q9Y6B6,P50542 34 |
| Glomus jugular tumor 0.9161465400271352 3.8358704912881505 0.0001251203318404 0.4435067855694763 0.0024317993126163 2 O14521 1 |
| Spotty hypopigmentation 0.9147896879240164 3.829391253351489 0.0001284606333333 0.4521469899458052 0.0024761712203027 2 Q9NP58 1 |
| Left ventricular hypertrophy 0.7014222741302931 3.8217163332034847 0.0001325260830462 0.4624821496349003 0.0025131666922618 28 Q3T906,O75787,P10253,P03915,Q15233,Q6NUK1,O75431,Q8WTW3,O14521,P00403,O75880,P12235,P21912,P78536,Q9H9S5,P03886,P40939 17 |
| Abnormal pigmentation of the oral mucosa 0.910719131614655 3.8099223946302287 0.0001390104197267 0.4785646944343704 0.0026044992240003 2 P33897 1 |
| Posterior polar cataract 0.9096336499321508 3.804722785116198 0.0001419630902022 0.4857276646434426 0.0026387107718536 2 P08670 1 |
| Corneal opacity 0.5306434706976734 3.772650151937923 0.0001615227003983 0.5307564913407483 0.002966950308494 73 P10619,Q96J42,Q6NUK1,Q9Y4P3,P40855,Q9Y5Y5,P08236,O95202,O43683,Q3T906,Q9NX14,P35670,P51648,Q9NVI7,O75844,Q13510,Q06136,O75845,P02545,Q16625,O75381,P04062,P53701,O43505,Q9UBM7,Q9H9S5,P50542,Q9Y2B2,P04066 29 |
| Hypertrophic nerve changes 0.9023066485752936 3.7695377593733106 0.0001635501652992 0.5351923553725244 0.0029924569307093 2 Q9NR77 1 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 0.8990502035278054 3.7538506897635338 0.0001741386156741 0.5576864695560013 0.0031492867792193 2 O75503 1 |
| Asymmetric septal hypertrophy 0.8971506105834395 3.744685813229853 0.0001806196610538 0.5709144255592323 0.0031925377070805 2 P54802 1 |
| Abnormality of coordination 0.3741777084669304 3.7414250577688466 0.0001829797436072 0.575632537609548 0.0032220944325428 370 O14949,P48444,O43676,O96008,O96000,O43819,O15460,P07602,Q5T8D3,P50897,Q03252,P03886,Q92643,O75787,O14773,Q9H6K4,O43924,Q96IX5,Q7RTS9,Q14108,Q13510,P55795,Q96CU9,Q96RL7,Q96MW5,P00403,Q8NI60,P35637,Q9NR77,Q9NX46,Q86Y39,Q01105,Q2TAA5,O43292,O75298,P50542,P39210,P16278,O95831,Q9Y2B2,O00165,Q8WWI5,Q7KZN9,Q9H2C2,Q15907,O75503,Q9H3H5,O15121,Q5XKP0,Q9Y5Y5,Q9UBB4,Q15067,O95202,P61916,Q99720,P05067,Q15233,Q9NZJ7,O14521,P49768,Q9Y487,P41440,Q5HYK3,Q9NZ08,Q9Y6M9,Q96TA2,O60313,Q9NW15,O75381,O76024,P04062,O43681,P33897,Q8WWV3,Q9P0J0,Q6DKK2,Q8IV08,Q9NPL8,P40855,O95470,P07196,Q9NQZ5,P35670,Q9NVI7,Q9BUB7,Q6P4A7,P12235,P21912,Q9Y287,P40939,O95169,P20700,Q9NWW5,O14653,Q9Y4W6,Q13586,Q9Y4P3,Q9Y619,O75027,Q9NX14,Q8N183,P49589,Q9BPX6,Q8IUX1,P00374,Q12768,P03915,P35610,O95721,Q92581,O00584,Q5JRX3,Q10713,Q9H9S5,Q53FT3 115 |
| Abnormal circulating cholesterol concentration 0.6647933108918879 3.736854018024295 0.0001863370321941 0.5822549608029787 0.0032572586778828 34 P61916,Q9UJS0,Q15392,Q9BTV4,Q8N511,O75431,Q9NZJ7,O75845,P07602,Q9NVI7,Q14739,P02545,Q9UBM7,P50402,Q15800,Q9Y6B6,Q15125,P37268 18 |
| Impaired proprioception 0.5812382522358439 3.735889478766413 0.0001870528159053 0.5836534628879547 0.0032572586778828 47 Q8IV08,O43819,Q9H0B6,O00400,P07196,Q9Y619,O14773,Q9H6K4,P54802,P41440,Q12768,Q96RL7,O95140,Q9NR77,P33897,P20700,O75298,Q9Y6B6,O00165,Q6UWE0 20 |
| Abnormality of the glenoid fossa 0.8890094979647062 3.7052894865026498 0.0002111494368237 0.6280992988407532 0.0034339773911163 2 Q7RTS9 1 |
| Narrow pelvis bone 0.8822252374491187 3.672311546906311 0.0002403663959587 0.6756757628875165 0.0036381978474802 2 P16435 1 |
| Prominent calcaneus 0.8822252374491014 3.672311546906075 0.0002403663959589 0.675675762887854 0.0036381978474802 2 Q7RTS9 1 |
| Sclerosis of hand bone 0.8732700135685225 3.628572836236226 0.0002849923481711 0.7368666691127164 0.0040087211977017 2 Q15125 1 |
| Aplasia hypoplasia of the colon 0.8732700135685032 3.628572836236025 0.0002849923481713 0.7368666691129901 0.0040087211977017 2 O75844 1 |
| Epidermal hyperkeratosis 0.8732700135685032 3.628572836236025 0.0002849923481713 0.7368666691129901 0.0040087211977017 2 O75844 1 |
| Dysmetria 0.5270298480077408 3.617648822893486 0.0002972913930443 0.751601239060383 0.0040993280715725 66 Q8IV08,Q9Y4W6,O75503,Q9Y4P3,O15121,Q9NPL8,Q5T8D3,Q9Y5Y5,Q9UBB4,O75027,O75787,Q8N183,O14773,Q6P4A7,P41440,Q12768,Q5HYK3,Q96TA2,O60313,Q9NW15,Q9NX46,P33897,O43292,P20700,Q5JRX3,Q10713,Q6DKK2 27 |
| Muscle abnormality related to mitochondrial dysfunction 0.6019791986145346 3.614356883198504 0.0003010940804402 0.755987795284911 0.0041358494802989 42 Q9Y2R0,Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,Q9UBX3,P00403,Q9NPL8,O60313,P12235,Q8IUX1,P03886 14 |
| Ovotestis 0.8686567164179106 3.605947607369188 0.0003110158880821 0.7670717960577027 0.0042596445022711 2 Q9NX14 1 |
| Abnormal social behavior 0.5107457856017222 3.6017052227385253 0.0003161367154691 0.7725940402429244 0.0042922457812079 76 O43909,O43676,O96008,O96000,Q15907,Q9Y4P3,P07602,Q9NPL8,Q5XKP0,P03886,Q15067,Q5KU26,Q9NX14,Q8N183,P05067,Q15233,Q9GZY8,Q9NZJ7,Q8IUX1,Q9UHX1,Q15125,Q96CU9,Q9Y6M9,O75746,O43681,Q86Y39,Q2TAA5,Q9P0J0,Q8NB90 29 |
| Metatarsus valgus 0.8640434192673012 3.583258494189423 0.00033933450078 0.7960157591926139 0.0045542773686354 2 O43505 1 |
| Abnormal cellular phenotype 0.4142542236307764 3.5723785660109235 0.0003537535335231 0.8093421277122865 0.0047342330029216 212 O43909,Q7KZN9,Q9Y2R0,Q96RD7,Q9Y4W6,O43676,P20674,O96000,O75503,P07602,Q9NPL8,P09601,O43772,P03886,Q92643,P23786,O75787,Q3T906,Q9UJS0,Q9NX14,Q8N183,O14773,Q4J6C6,Q9GZY8,Q9NZJ7,O14521,Q14108,Q9BUB7,O75844,P12235,Q13510,P21912,Q8IUX1,Q96CU9,Q9Y584,P03915,Q9Y6M9,Q9Y2Q5,P14174,P00403,P51798,Q70HW3,O75880,P13073,P78536,P02545,P21964,Q14739,P40939,P04062,Q86Y39,Q9UBX3,Q9NWW5,Q9P0J0,P15586 55 |
| Mental deterioration 0.4640412788575259 3.5495660981015473 0.0003858665817177 0.8359768767951675 0.0050769636763094 120 Q9BQE5,Q9H2C2,Q8WWI5,O96008,O43819,O75503,P07602,Q9NPL8,Q5XKP0,O95470,Q9UBB4,P50897,P03886,Q9NQZ5,P61916,P35670,P05067,Q9NZJ7,P54802,O14521,Q14108,Q9Y487,P21912,Q13510,P06865,Q96RL7,P03915,P27544,Q9Y287,P00403,O60313,P35637,P21964,O76024,P04062,O43681,P33897,O95169,P20700,Q10713,Q9NWW5,P16278,P17900 43 |
| Extra axial cerebrospinal fluid accumulation 0.8545454545454563 3.536342719849457 0.0004057079975849 0.8505393087928098 0.0052712070876622 2 P20700 1 |
| Elevated systolic blood pressure 0.8488466757123376 3.5080609606201647 0.0004513856035825 0.8793386588477717 0.0056662578543202 2 P42892 1 |
| Elevated diastolic blood pressure 0.8488466757123376 3.5080609606201647 0.0004513856035825 0.8793386588477717 0.0056662578543202 2 P42892 1 |
| Elevated mean arterial pressure 0.8488466757123376 3.5080609606201647 0.0004513856035825 0.8793386588477717 0.0056662578543202 2 P42892 1 |
| Abnormal activity of mitochondrial respiratory chain 0.5213043103600157 3.4877919385900795 0.0004870269091219 0.8978986910828655 0.0059562246535958 61 Q7KZN9,Q9Y2R0,Q9NX14,Q9Y584,Q8N183,Q86Y39,O43676,Q9Y6M9,O96000,Q9UBX3,O14521,Q9NPL8,Q70HW3,P13073,P21912,Q9P0J0,P03886 17 |
| Micrographia 0.8426051560379775 3.4769707370504483 0.0005071131618932 0.9070710941617114 0.0061377727398136 2 P04062 1 |
| Sensorimotor neuropathy 0.6024535509940725 3.461875382570995 0.0005364254722255 0.9189987804995524 0.0063316232115977 39 P05023,Q9Y2R0,Q9Y4W6,P38935,P07602,P07196,P03886,P03905,Q5KU26,Q9NZJ7,P41440,P03915,P00403,O60313,Q9NR77,P40939,P33897,P39210,O95831 19 |
| Ventricular hypertrophy 0.5841866179208757 3.4558886657794567 0.0005484818165055 0.9234486587262312 0.0064549970565631 42 Q6NUK1,O43772,P03886,P23786,Q3T906,O14521,P12235,P21912,O75844,P10253,P03915,O75431,Q8WTW3,P00403,O75880,P02545,P78536,P40939,Q9H9S5 19 |
| Hypertrophic cardiomyopathy 0.4505762600970992 3.440737954646028 0.000580130077888 0.9340011388247472 0.0067427525678103 126 Q7KZN9,Q9BTV4,O43676,O96000,O43819,Q9Y4P3,Q9NPL8,Q5XKP0,P03886,Q9H061,Q3T906,Q9NX14,Q8N183,Q96IX5,P50416,P13473,P54802,O14521,Q9NVI7,Q9BUB7,P12235,P21912,Q8IUX1,Q96CU9,P10253,P03915,Q9Y6M9,P00403,O60313,P02545,P50402,P40939,Q13423,Q86Y39,P53701,O95169,Q96I36,Q9P0J0,P15586 39 |
| Abnormality of the mitochondrion 0.4674440882240044 3.427676595468606 0.0006087702123229 0.9422913368147257 0.0070162770592324 105 Q7KZN9,Q9Y2R0,Q9Y4W6,O43676,P20674,O96000,Q9NPL8,O43772,P03886,P23786,Q9NX14,Q8N183,Q4J6C6,Q9GZY8,O14521,Q9BUB7,P12235,P21912,Q8IUX1,Q96CU9,Q9Y584,P03915,Q9Y6M9,P00403,Q70HW3,O75880,P13073,P35637,P40939,Q86Y39,Q9UBX3,P50542,Q9P0J0 33 |
| Increased csf lactate 0.5180657021120744 3.41759761981839 0.0006317643322364 0.9481872633969048 0.0072351690273728 58 Q7KZN9,O43676,O96000,O43819,Q9NPL8,P03886,Q9NX14,Q8N183,Q9NWS8,Q8IUX1,Q96CU9,P03915,Q9Y6M9,P00403,P13073,Q8NI60,Q86Y39,Q9P0J0,O95169,Q96I36,P39210,O95831,Q9HC21 23 |
| Facial capillary hemangioma 0.830393487109903 3.415790587988316 0.0006359713402317 0.9491989067371184 0.0072560140071001 2 P16435 1 |
| Broad metacarpals 0.8287652645861616 3.407597769504581 0.0006553742506012 0.9536150095899486 0.0073792619947531 2 O43909 1 |
| Cervical myelopathy 0.8287652645861616 3.407597769504581 0.0006553742506012 0.9536150095899486 0.0073792619947531 2 Q93063 1 |
| Flattened femoral head 0.8287652645861618 3.407597769504581 0.0006553742506012 0.9536150095899486 0.0073792619947531 2 Q96DX4 1 |
| Large sella turcica 0.8287652645861397 3.407597769504488 0.0006553742506014 0.9536150095899968 0.0073792619947531 2 Q3T906 1 |
| Microtia third degree 0.8257801899592969 3.39255576454474 0.0006924383596633 0.9610121303600536 0.0076675680299367 2 Q9Y619 1 |
| Phalangeal dislocation 0.8195386702849409 3.3610125330153475 0.0007765730166033 0.9737182664034876 0.0083812626953256 2 Q8WVQ1 1 |
| Diffuse optic disc pallor 0.8195386702849163 3.361012533015269 0.0007765730166036 0.9737182664035148 0.0083812626953256 2 Q9H3H5 1 |
| Cognitive impairment 0.4069117693971835 3.3589467008050957 0.0007824015615891 0.9744266202793388 0.0084247561252496 202 Q9Y2R0,Q9BQE5,Q9Y4W6,Q9H2C2,O96008,O43819,O75503,P07602,Q9NPL8,Q5XKP0,P40855,O95470,Q9Y5Y5,P50897,Q9UBB4,P07196,P03886,Q9Y619,Q9NQZ5,P61916,Q3T906,Q9UJS0,Q99720,P35670,P05067,Q9H6K4,Q9NZJ7,P54802,P13473,P49768,Q14108,O14521,Q9Y487,P12235,Q13510,P21912,P06865,Q96RL7,Q9NZ08,P03915,P27544,Q9Y287,P00403,O60313,P35637,P21964,O75381,O76024,P04062,O43681,P33897,O95169,P20700,Q10713,Q9NWW5,P50542,Q6DKK2,P16278,O95831,P17900,Q9H9S5,Q8WWI5 62 |
| No social interaction 0.8189959294436926 3.3582637502389883 0.000784337354075 0.9746576326183554 0.0084262297396499 2 O43909 1 |
| Abnormality of the optic nerve 0.3751102467966052 3.355246579541068 0.0007929427095554 0.9756595811195068 0.0084658560739408 291 O43676,O96000,O43819,O15460,P07602,P50897,P03886,Q9H061,Q9H6K4,Q9UHX1,Q96CU9,P78318,P47985,P00403,P37268,Q86Y39,Q7LGA3,Q9H490,O43292,Q9UBM7,P50542,P16278,O95831,Q8WWI5,Q7KZN9,Q9H2C2,Q15907,Q9H3H5,Q5XKP0,Q9Y5Y5,Q96L58,Q15067,O95202,Q9GZY8,Q9NZJ7,O14521,Q96HR9,P06280,P41440,P29992,P04439,Q9NZ08,Q9Y6M9,Q6PJG6,Q96TA2,O60313,Q96DA6,P21964,O75381,O76024,P04062,O43681,Q15043,Q8WWV3,Q9P0J0,Q9HC21,Q9UG56,Q96J42,Q9NPL8,P40855,P07196,Q6P4Q7,Q13277,Q9NVI7,Q15125,Q6ZXV5,Q9Y287,P51798,O43505,O95169,Q9Y4W6,P51572,Q5KU26,Q9NX14,Q8N183,P38435,Q9BPX6,Q8IUX1,P51812,Q12768,Q9Y5U9,P03915,Q96S66,O95721,Q10713,Q9H9S5,Q53FT3 87 |
| Anomalous trichromacy 0.9203481148799308 3.34781571640835 0.0008145115342668 0.9780003035078544 0.0085953995283903 3 Q9H6K4 1 |
| Tritanomaly 0.9203481148799308 3.34781571640835 0.0008145115342668 0.9780003035078544 0.0085953995283903 3 Q9H6K4 1 |
| Cerebral amyloid angiopathy 0.8157394843961933 3.3417511641608573 0.0008325165815108 0.9797809848166288 0.0087629385793186 2 Q9Y287 1 |
| Abnormal left ventricle morphology 0.6200571550177582 3.3407726056259195 0.0008354561834205 0.980057703684482 0.008767123928013 33 O43683,Q3T906,O75787,P10253,P03915,Q15233,Q6NUK1,O75431,Q8WTW3,O14521,P00403,O75880,P12235,P21912,P78536,Q9H9S5,P03886,P40939 18 |
| Left ventricular noncompaction cardiomyopathy 0.8154681139755773 3.340373573474578 0.0008366576421481 0.9801697097859692 0.008767123928013 2 Q86YT6 1 |
| Alzheimer disease 0.8135685210312098 3.330723780872415 0.0008662050833472 0.982734808471458 0.0089763376336271 2 P05067 1 |
| Inappropriate sexual behavior 0.8135685210311937 3.3307237808723436 0.0008662050833474 0.982734808471476 0.0089763376336271 2 P35670 1 |
| Dementia 0.4886151788021627 3.3241728826701773 0.0008868120232143 0.9843247217035138 0.0090893381110201 75 O96008,P07602,Q9UBB4,P03886,Q9NQZ5,P61916,P35670,P05067,Q9NZJ7,O14521,Q14108,Q9Y487,P21912,Q13510,P06865,Q96RL7,P03915,P27544,Q9Y287,P00403,O60313,P35637,O76024,P04062,O43681,P33897,P20700,Q9NWW5,P17900 29 |
| Abnormal brain choline level by mrs 0.9135405071962373 3.3168984647040674 0.0009102268924343 0.985954375003718 0.0092283609613908 3 P07602 1 |
| Impaired social interactions 0.5200076646204723 3.314266537250226 0.0009188387462095 0.986510169410436 0.0092792493136218 54 O43909,O43676,Q15907,O96000,Q9NPL8,Q5XKP0,P03886,Q5KU26,Q9NX14,Q8N183,Q9GZY8,Q8IUX1,Q9UHX1,Q96CU9,Q9Y6M9,O75746,Q86Y39,Q2TAA5,Q9P0J0,Q8NB90 20 |
| Vitamin b12 deficiency 0.8103120759836971 3.3141541073519853 0.0009192083009224 0.9865335214740713 0.0092792493136218 2 P33897 1 |
| Muscle weakness 0.3560495516357525 3.307997099209515 0.000939657829025 0.9877646558281744 0.0094449726848784 339 O43909,Q9BTV4,Q8TD16,O43676,O96000,O43819,O15460,P07602,Q5T8D3,O43772,P03886,Q7RTS9,P13473,Q9UHX1,Q13510,Q96CU9,P06865,Q96RL7,P47985,Q96MW5,P00403,Q70HW3,P13073,Q8NI60,P35637,Q9NR77,Q9NX46,Q86Y39,O75298,Q5JTV8,P50542,P39210,O95831,P17900,P05023,P51970,Q9H2C2,Q9H3H5,Q15165,Q5XKP0,Q92804,Q9Y5Y5,Q15067,P23786,Q99720,Q15233,Q9GZY8,Q9NZJ7,O14521,P50570,P41440,Q53H12,Q9NWM8,P29992,Q9HC07,Q9Y6M9,Q96TA2,O60313,Q96DA6,O75381,O95140,O43681,P33897,Q15043,Q9P0J0,Q6DKK2,Q9HC21,Q8NCH0,Q9NPL8,P40855,O00400,P07196,Q9NP58,P35670,P12235,P21912,P10253,P51798,O15269,P50402,Q14739,P40939,Q8TB36,O43505,O95169,P20700,Q9Y4W6,Q13586,Q6NUK1,Q5KU26,Q9NX14,Q8N183,Q4J6C6,Q9BPX6,Q8IUX1,P51812,P00374,Q12768,P03915,P02545,O95721,Q10713,Q9H9S5 103 |
| Dilated cardiomyopathy 0.5241748428412767 3.3021899797717738 0.0009593307057635 0.9888427055469596 0.0096108538095358 52 Q9BTV4,O43819,P03905,P03886,P23786,Q9NX14,P06753,P49768,O14521,P13473,P12235,Q96RL7,P03915,P00403,P42167,P02545,Q96DA6,P40939,P53701,O95169,Q9H9S5,P16278 22 |
| Abnormal urine magnesium concentration 0.8075983717774788 3.300319736355712 0.0009657473298836 0.9891733675065494 0.0096108538095358 2 P05023 1 |
| Photoreceptor layer loss on macular oct 0.8073270013568546 3.298934980151404 0.0009705238795705 0.9894131355477028 0.0096108538095358 2 Q96S66 1 |
| Abnormal optical coherence tomography 0.8073270013568546 3.298934980151404 0.0009705238795705 0.9894131355477028 0.0096108538095358 2 Q96S66 1 |
| Retinal thinning 0.8073270013568231 3.2989349801512757 0.0009705238795709 0.9894131355477248 0.0096108538095358 2 P51648 1 |
| Poor eye contact 0.5663562033279234 3.2943757886787206 0.0009864052922297 0.9901728139147276 0.0097269945027451 42 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,Q9NPL8,Q5XKP0,O75746,Q8IUX1,Q9UHX1,Q9P0J0,P03886,Q96CU9,Q5KU26,Q8NB90 16 |
| Poor head control 0.4761466228374212 3.2874601874423637 0.0010109548249679 0.9912412984336836 0.0099065112973845 81 Q9H2C2,O43676,O96000,Q9H3H5,P07602,Q9NPL8,Q5XKP0,P03886,Q5KU26,Q9NX14,Q8N183,Q9NZJ7,O14521,Q8IUX1,P21912,Q96CU9,P00374,P06865,Q9NWM8,Q9Y6M9,P02545,P13073,Q86Y39,O95721,Q10713,Q9P0J0,P17900 27 |
| First degree atrioventricular block 0.802713704206244 3.275357307017725 0.0010552841016933 0.9928850756311228 0.0102675229736173 2 P02545 1 |
| Myoclonus 0.4506286505665295 3.263043911051652 0.0011022244020186 0.9942907435582335 0.0105605856571674 111 Q9Y4W6,Q9H2C2,O96008,O75503,P07602,Q9NPL8,P50897,Q03252,P03886,Q9NQZ5,O14773,P05067,Q9NZJ7,P49768,O14521,Q14108,Q9NWS8,Q13510,Q96CU9,P00374,Q5HYK3,P29992,P03915,P27544,Q96MW5,O75845,P00403,Q8NI60,P13073,P04062,P33897,Q01105,Q9UBX3,Q10713,Q9NWW5,O14653,Q9Y2B2 37 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.8992942453854504 3.2518097380391113 0.0011467275532677 0.9953660883030802 0.0108950747657322 3 O14773,O75503 2 |
| Hypoplastic hippocampus 0.7951153324287683 3.236371061146016 0.0012105990433994 0.9965654899911676 0.011386437588922 2 Q96RL7 1 |
| Abnormal retinal morphology 0.3811946455709755 3.2273516052776863 0.001249418287641 0.9971371403533916 0.0116116572605368 254 Q7KZN9,Q8NCH0,Q9UG56,Q96J42,Q9H2C2,P10619,O75503,O43819,Q9H3H5,Q9Y4P3,P07602,Q5T8D3,Q5XKP0,P40855,Q9Y5Y5,P50897,Q9Y619,P03886,O95202,Q6P4Q7,Q3T906,Q9NX14,P51648,Q8N183,O14773,P38435,O43924,Q9NZJ7,O14521,Q96HR9,Q9Y487,Q9UHX1,Q13510,P21912,P50570,Q7Z4L5,Q96CU9,P51812,Q12768,Q9NZ08,P03915,Q8WTW3,Q9Y287,P00403,O60313,P02545,Q9NW15,P21964,O75381,O76024,P04062,P40939,Q96S66,P53701,Q7LGA3,O43505,O95169,Q10713,Q9Y6B6,Q9NWW5,Q9H9S5,Q9P0J0,Q9Y2B2,P17900 64 |
| Impaired vibratory sensation 0.5791741025700023 3.213650049290407 0.0013105929961247 0.997851195972224 0.0119573652811545 38 Q12768,P33897,Q96RL7,O14773,O95140,O43819,P20700,O75298,Q9Y6B6,O00165,O00400,P07196,Q9Y619,Q6UWE0,Q9NR77 15 |
| Incoordination 0.4650944508476313 3.2133817642802502 0.0013118179660831 0.9978635060835268 0.0119573652811545 84 Q13586,O75503,O43819,Q9H3H5,P07602,Q9Y619,P35670,O14773,P49589,Q9NZJ7,Q7RTS9,O14521,P12235,P21912,Q13510,Q9NR77,P40939,P04062,O43681,P33897,Q01105,Q10713,Q9H9S5,O00165,Q6DKK2 25 |
| Abnormal involuntary eye movements 0.3523083195043588 3.211452915908402 0.001320656101369 0.9979502583889304 0.0119882813542875 337 O43909,O43676,O96000,O43819,O15460,P07602,Q5T8D3,O43772,P03886,Q9H061,O14773,Q9H6K4,O43924,Q13510,Q96CU9,P78318,P35637,Q9NR77,Q9NX46,Q86Y39,Q7LGA3,Q9H490,O43292,Q86YV9,Q9UBM7,Q93063,P50542,P39210,O95831,P17900,Q8NB90,Q7KZN9,Q9H2C2,Q15907,O75503,Q9H3H5,O15121,Q5XKP0,Q9Y5Y5,Q9UBB4,O95202,Q99720,Q9NZJ7,O14521,Q96HR9,Q9Y6M9,O60313,Q9NW15,O75381,O76024,P04062,Q8WWV3,Q9P0J0,Q6DKK2,Q8IV08,Q9BT22,Q9NPL8,P40855,O00400,P07196,Q6P4Q7,Q15392,Q13277,Q9NVI7,P12235,P21912,Q15125,P51798,O95169,P20700,Q9Y4W6,Q6NUK1,Q9Y4P3,Q5KU26,O75027,Q9NX14,Q8N183,P49589,Q8IUX1,P03915,Q92581,O00584,Q10713,Q53FT3,Q16625 85 |
| Abnormal mitochondria in muscle tissue 0.650511405778219 3.204460423687405 0.0013531589225328 0.998240082874932 0.0122359003728646 25 Q9Y4W6,Q9NX14,Q8N183,Q86Y39,O43676,Q9Y6M9,O96000,P00403,Q9NPL8,Q8IUX1,P03886 11 |
| Mitochondrial myopathy 0.5921312284385778 3.192441284736357 0.0014107562311416 0.9986567291429086 0.0127321429415555 35 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,P00403,Q9NPL8,O60313,P12235,Q8IUX1,P03886 12 |
| Elevated gamma glutamyltransferase level 0.8858862043250406 3.190064221045926 0.0014224118107843 0.9987281972335762 0.0128126479263733 3 Q5XKP0 1 |
| Optic neuropathy 0.6313245242967155 3.1715619636454377 0.0015162151781495 0.9991809303103004 0.0136052718284534 26 Q9NX14,Q86Y39,Q8N183,P03915,O43676,Q9Y6M9,O96000,Q9NPL8,Q8IUX1,Q9P0J0,P03886 11 |
| Action tremor 0.4877261753832091 3.15249025526244 0.0016188422480039 0.9994939126546768 0.0143506671352806 64 Q9Y4W6,P07602,Q5T8D3,Q9UBB4,P03886,O75027,O75787,Q99720,O14773,Q15233,Q9H6K4,Q9NZJ7,Q14108,Q9BUB7,P41440,Q96RL7,P03915,Q6PJG6,Q9Y287,Q9NW15,P35637,Q96DA6,Q9NR77,O43681,P20700,Q5JRX3 26 |
| Horizontal nystagmus 0.6407841404776604 3.133883270201235 0.0017250946649289 0.9996925878231152 0.0151250884762583 25 P04062,O14773,Q9NZJ7,P20700,P07602,O60313,P50542,Q9NW15,O95831,Q9H061 10 |
| Aortic valve calcification 0.8735070575461455 3.132631585510861 0.0017324675113106 0.9997030406607508 0.0151250884762583 3 P04062,O75844 2 |
| Osteopetrosis 0.8701153048976871 3.1168236117416273 0.0018281091593141 0.9998104200606248 0.0155405867554041 3 Q15392 1 |
| Ventricular arrhythmia 0.5291355989202281 3.1100935756166552 0.0018702808279897 0.9998444584760444 0.0158426541005203 45 P23786,Q9NX14,Q9BTV4,P10253,P03915,P42892,O14521,P00403,P02545,P12235,P21912,P50402,O43772,P03886 14 |
| Abnormality of the cerebrospinal fluid 0.403885708986574 3.1066885886259157 0.0018919558745349 0.9998595016885112 0.0159674257951742 166 Q7KZN9,P51970,Q96J42,Q6NUK1,O43676,O96000,O43819,P07602,Q9NPL8,P40855,Q03252,P03886,P08236,O95202,P23786,Q15392,Q9NX14,Q8N183,Q9NZJ7,Q9NWS8,Q8IUX1,Q15125,Q96CU9,Q12768,P03915,Q9Y6M9,P00403,P51798,Q8NI60,P13073,P21964,Q9NR77,P04062,P16435,O43681,Q86Y39,Q9P0J0,P53701,Q9H490,O43505,O95169,P20700,Q9UBM7,Q10713,Q96I36,Q9H9S5,P39210,O95831,Q16625,Q9HC21 50 |
| Bone cyst 0.8671041513567121 3.1027633481511008 0.0019172288438997 0.9998752151581368 0.0161226210140512 3 O14521 1 |
| Conjunctival hamartoma 0.8671041513567121 3.1027633481511008 0.0019172288438997 0.9998752151581368 0.0161226210140512 3 O14521 1 |
| Abnormal sweat gland morphology 0.865719721366889 3.096290620525378 0.0019595819934652 0.9998977088105472 0.0163228703698075 3 O75844 1 |
| Multiple myeloma 0.765807327001329 3.084186551474381 0.0020410956473477 0.999930226916684 0.0167339921427155 2 P04062 1 |
| Decreased activity of mitochondrial complex i 0.5640037028675978 3.0804132920310487 0.0020671353335601 0.9999382541131616 0.016819662756655 38 Q9NX14,Q9Y584,Q8N183,Q86Y39,O43676,Q9Y6M9,O96000,Q9UBX3,Q9NPL8,Q70HW3,P03886 11 |
| Short umbilical cord 0.8622913378800876 3.0802391368481827 0.0020683445234486 0.9999386035643404 0.016819662756655 3 O75844 1 |
| Small placenta 0.8622913378800876 3.0802391368481827 0.0020683445234486 0.9999386035643404 0.016819662756655 3 O75844 1 |
| Abnormal visual electrophysiology 0.4950124690383443 3.0777356720872766 0.002085798370734 0.9999434328855444 0.0169029058278865 55 O43681,O14773,O43924,O75503,Q9GZY8,Q9NZJ7,P51798,P07602,Q96HR9,P12235,O60313,P50897 12 |
| Hypermetric saccades 0.859432037455661 3.0668274708779264 0.0021634368870528 0.9999607090305268 0.0174415462632629 3 O14773 1 |
| Duplication of the distal phalanx of hand 0.76092265943011 3.0585381801166696 0.0022241973492986 0.9999704593593228 0.0179005848524313 2 Q8WVQ1 1 |
| Inability to walk 0.4440530348249016 3.055003084485495 0.0022505820750688 0.9999739008230436 0.0180738358577119 98 O43909,O14949,O75503,Q9H3H5,Q15041,P07196,O75787,Q3T906,Q99720,Q9GZY8,Q7RTS9,O14521,Q9NVI7,P12235,P21912,Q13510,Q96CU9,Q96RL7,O15269,P35637,Q9NR77,P33897,Q8TB36,O43292,Q15043,Q92581,Q9H9S5,Q96N66 28 |
| Abnormal circulating ceruloplasmin concentration 0.8568340934976821 3.054622250473535 0.0022534415330708 0.9999742488355496 0.0180738358577119 3 Q8N511 1 |
| Abnormal csf metabolite level 0.4777869577337094 3.0511413199371686 0.0022797324675518 0.999977238890555 0.0182222984266432 65 Q7KZN9,O43676,O96000,O43819,Q9NPL8,P03886,Q9NX14,Q8N183,Q9NWS8,Q8IUX1,Q96CU9,P03915,Q9Y6M9,P00403,P13073,Q8NI60,Q86Y39,Q9P0J0,O95169,Q96I36,P39210,O95831,Q9HC21 23 |
| Episodic hypertension 0.8537958963352746 3.0403251341822095 0.0023632287841426 0.9999846203290348 0.0188254483417076 3 O14521 1 |
| Gastric ulcer 0.8532021418606539 3.037528075331084 0.0023852718396886 0.9999861324556092 0.0189262190368478 3 O76024 1 |
| Abnormal muscle fiber morphology 0.4512651225718596 3.0371834513761864 0.0023880007367158 0.9999863090033084 0.0189262190368478 84 Q9Y4W6,Q9BTV4,Q13586,O43676,O96008,Q9H3H5,O14979,P53007,P07196,P03886,P03905,P23786,Q99720,P05067,P49768,Q9BPX6,P12235,P50570,Q9H2D1,Q5HYK3,Q96RL7,P03915,P00403,Q70HW3,O60313,Q8NI60,P50402,P02545,P35637,Q5JTV8,Q9H9S5,O95831 32 |
| Patchy alopecia 0.852983449144805 3.036497612110725 0.0023934400449734 0.99998665422754 0.0189372857612425 3 O75844 1 |
| Absent nipple 0.7554952510176189 3.0299431668880277 0.0024459976138606 0.999989572746766 0.0190886464461349 2 Q6NUK1 1 |
| Disproportionate short stature 0.581992945663195 3.02954208650482 0.0024492477613422 0.9999897306694396 0.0190886464461349 33 O43909,Q15392,Q7LGA3,P48444,Q32P28,Q8WVQ1,Q8WTW3,O15228,Q7RTS9,Q14739,Q96DX4,Q9UBM7,Q9UHX1,P16278,Q15125,Q96HY6 16 |
| Abnormality of head blood vessel 0.5972440629755141 3.023927690344784 0.0024951606852732 0.99999172223734 0.0194141738369099 27 P10619,P03915,Q9Y4P3,Q9NZJ7,P21964,P07602,Q13510,P03886,P17900,P06865 10 |
| Variable expressivity 0.4473597677682248 3.014267032225994 0.0025760096529934 0.9999943372281502 0.0199768695606311 86 Q9Y4W6,Q13586,Q9H3H5,P07602,O15121,O95470,P07196,P03886,Q9H061,Q9NZJ7,Q9NWS8,Q6P4A7,Q13510,Q15125,P00374,P03915,Q8WVQ1,P00403,Q70HW3,P02545,Q9NR77,Q9H9S5,P17900 23 |
| Erythema 0.594006445346141 3.0111461445424905 0.0026026355465809 0.9999950028185404 0.0201499915705537 28 Q9NX14,Q06136,P51648,P53701,P03886,P03915,Q9Y2B2,P00403,P78536,Q15125 10 |
| Proximal tubulopathy 0.5953099518526533 3.0087950122186258 0.0026228601811284 0.9999954556091264 0.0202412392677002 27 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,P00403,Q9NPL8,Q8IUX1,P03886 10 |
| Functional motor deficit 0.3960772263645078 3.008771391194858 0.0026230640980986 0.9999954599590198 0.0202412392677002 174 Q9Y2R0,Q8TD16,Q9H2C2,Q13586,O43819,Q9H3H5,P07602,Q15041,P07196,P03886,P23786,O75787,Q9NX14,Q99720,P35670,O14773,Q9GZY8,Q9NZJ7,Q7RTS9,P13473,O14521,Q9BPX6,Q96DX4,P12235,P21912,Q13510,Q8IUX1,P50570,Q12768,Q9H2D1,Q9NWM8,Q96RL7,P03915,P00403,Q8NI60,Q9NR77,P40939,P04062,O43681,P33897,P53701,O43292,P20700,O75298,O14653,Q9H9S5,Q9HC21 47 |
| Abnormality of the first metatarsal bone 0.7487109905020204 2.994055095583884 0.0027529622747148 0.9999975333694556 0.0210308676451523 2 Q8WVQ1 1 |
| Aplasia of the phalanges of the toes 0.7487109905020215 2.994055095583884 0.0027529622747148 0.9999975333694556 0.0210308676451523 2 P02545 1 |
| Abnormality of the distal phalanx of the hallux 0.7487109905020204 2.994055095583884 0.0027529622747148 0.9999975333694556 0.0210308676451523 2 Q8WVQ1 1 |
| Absent sternal ossification 0.7487109905020151 2.9940550955838594 0.0027529622747151 0.9999975333694556 0.0210308676451523 2 Q9Y619 1 |
| Abnormality of femur morphology 0.4570366911020158 2.993627641604082 0.0027568216767983 0.9999975776801688 0.0210308676451523 78 O43909,P48444,Q6NUQ1,P07602,Q96L58,Q9Y619,Q9NZJ7,Q7RTS9,Q96DX4,O75844,Q9UHX1,Q9Y487,P51812,O75431,Q32P28,Q96MW5,Q8WTW3,Q8WVQ1,P51798,P02545,Q14739,P04062,P16435,Q7LGA3,Q96A33,Q9NVV0,Q93063,P50542,P16278,O95831,O75718,Q96HY6,P04066 33 |
| Saccadic oscillation 0.8421875968068164 2.9854634272402243 0.0028314899456662 0.9999982942591475 0.0214260079248802 3 P04062 1 |
| Opsoclonus 0.8421875968068164 2.9854634272402243 0.0028314899456662 0.9999982942591475 0.0214260079248802 3 P04062 1 |
| Osteoarthritis 0.7955977251135231 2.979047057177925 0.0028914636886523 0.9999987130483275 0.0218015362268139 13 P04062,P35670,Q8WVQ1,P51798,Q14108,O75844,Q96HY6 7 |
| Polyneuropathy 0.6057788570639222 2.9788090236080844 0.0028937107296633 0.999998726561523 0.0218015362268139 26 O95721,P35670,P33897,P03915,Q9NZJ7,P07602,O60313,Q15041,P03886,Q9HC21 10 |
| Areflexia of lower limbs 0.6057598511825284 2.9786640383936103 0.0028950801735863 0.99999873472738 0.0218015362268139 26 O75787,Q96RL7,Q13586,Q9H6K4,O75477,O60313,Q15041,P12235,P07196,P50570,Q15067,O95140,Q9NR77 13 |
| Abnormality of lipoprotein cholesterol concentration 0.7544903275954544 2.9730261643669595 0.0029487931353195 0.9999990168968128 0.0220665818821413 15 Q9UJS0,Q8N511,Q15800,P02545,Q9Y6B6,P50402,P37268 7 |
| Bilateral tonic clonic seizure with focal onset 0.8395597927563758 2.9729920951011946 0.0029491204650342 0.9999990184074152 0.0220665818821413 3 P07602 1 |
| Clumsiness 0.6184714585661296 2.9698181129247407 0.00297976119208 0.9999991500067158 0.0222248430313745 25 O43681,O14773,O75503,Q9NZJ7,P07602,Q13510,O00165,Q9NR77 8 |
| Abnormally shaped carpal bones 0.838747476796011 2.9691329989845636 0.0029864130847221 0.9999991761588272 0.022239044338376 3 Q7RTS9 1 |
| Neonatal breathing dysregulation 0.743554952510165 2.9666721931036526 0.0030104173582194 0.9999992640195182 0.0222761372921095 2 Q10713 1 |
| Lobar holoprosencephaly 0.7435549525101467 2.9666721931035394 0.0030104173582206 0.9999992640195182 0.0222761372921095 2 Q96J42 1 |
| True hermaphroditism 0.7435549525101467 2.9666721931035394 0.0030104173582206 0.9999992640195182 0.0222761372921095 2 Q96J42 1 |
| Urethral atresia 0.7435549525101467 2.9666721931035394 0.0030104173582206 0.9999992640195182 0.0222761372921095 2 Q96J42 1 |
| External ophthalmoplegia 0.6016696884993813 2.9474070400854964 0.0032045108486991 0.9999997043324208 0.0233756858509372 26 Q8N183,Q13586,Q9GZY8,O14521,P00403,O60313,P12235,P21912,P50570,P03886 10 |
| Abnormal ldl cholesterol concentration 0.7697273350003002 2.945012238889512 0.0032294188816812 0.9999997369905348 0.0234885062760792 14 Q9UJS0,Q8N511,Q15800,Q9Y6B6,P02545,P50402,P37268 7 |
| Blindness 0.4407847487617197 2.9406966683272677 0.0032747504311665 0.9999997874527607 0.0236696442256289 88 O43676,O96000,P07602,Q9NPL8,P50897,P03886,Q9NX14,Q8N183,Q9H6K4,Q9NZJ7,O14521,Q96HR9,Q8IUX1,P21912,Q96CU9,Q9NZ08,Q9Y6M9,P51798,Q86Y39,P33897,P53701,O43505,Q9H9S5,P17900 24 |
| Overtubulated long bones 0.8327298995688797 2.9404873405206877 0.0032769639189826 0.9999997896522292 0.0236696442256289 3 O75844 1 |
| Genetic anticipation 0.7378561736770748 2.936297654870731 0.0033215543810822 0.9999998294191944 0.023862209694769 2 Q9UBB4 1 |
| Toe walking 0.5841245661366694 2.9327397045733097 0.0033598544854087 0.9999998575187936 0.0240635449688909 28 O43681,Q99720,Q9BTV4,Q8TD16,Q9NZJ7,P07602,P53007,P02545,P50402,Q9H9S5,O95831,P35637,Q6UWE0,P40939 14 |
| Prominent sternum 0.8287187839305102 2.921336366341712 0.0034853330868227 0.999999920999844 0.0248104865937352 3 P16278,Q7RTS9 2 |
| Reduced brain n acetyl aspartate level by mrs 0.923330359801976 2.9171108793996128 0.0035329015854577 0.99999993682843 0.0249971465653835 4 P07602,Q9NZJ7 2 |
| Abnormal brain n acetyl aspartate level by mrs 0.923330359801976 2.9171108793996128 0.0035329015854577 0.99999993682843 0.0249971465653835 4 P07602,Q9NZJ7 2 |
| Abnormal vascular physiology 0.4706596352283274 2.9163257124329096 0.0035418054234861 0.9999999394178238 0.0250223478184149 60 P51970,Q6NUK1,P20674,O96000,Q9Y4P3,O15460,P03886,Q8IZA0,P05067,Q14108,O75844,Q9NWM8,P03915,Q9NZ08,Q8WTW3,P00403,P51798,P02545,Q14739,O14678,P04062 21 |
| Mottled pigmentation 0.826574123082604 2.911078038780865 0.0036018404444477 0.9999999543141476 0.0253359612484282 3 O75844 1 |
| Large placenta 0.8260992367476523 2.9088048000469473 0.0036281331506955 0.9999999596259672 0.0254773757057169 3 O75844 1 |
| Breast aplasia 0.8260043431053203 2.9083504757974823 0.0036334088324976 0.9999999606149824 0.0254773757057169 3 Q9Y619,P02545 2 |
| Mania 0.6935965085577366 2.900542818971905 0.0037251693897522 0.9999999744153693 0.0260040140411316 18 Q9UJS0,P16615,P21964,P00403,P12235,P03886,P51812 7 |
| Spondylolisthesis 0.7310719131614714 2.8999869576702246 0.0037317818734861 0.9999999751985276 0.0260114081776918 2 O00754 1 |
| Small intestinal dysmotility 0.7302578018995991 2.8956186242907114 0.0037841197779253 0.9999999806086414 0.0262979481302829 2 P36551 1 |
| Limb dysmetria 0.7302578018995716 2.8956186242905644 0.0037841197779271 0.9999999806086414 0.0262979481302829 2 Q12768 1 |
| Myoclonic seizure 0.4659736431618029 2.891944165535013 0.003828659816967 0.9999999842725932 0.0264895754544659 63 P04062,Q9Y5U9,Q9Y4W6,Q01105,P03915,Q8WWV3,O43292,O75503,Q9H3H5,Q9NZJ7,O14521,P07602,Q5XKP0,P21912,Q13510,Q96N66,Q9Y619,P03886 18 |
| Punctate cataract 0.917382011777985 2.891379137281311 0.0038355509183773 0.9999999847740264 0.0264981128343358 4 Q9H6K4,P08670 2 |
| Low back pain 0.7275440976933576 2.881040347910089 0.003963648971929 0.999999991663508 0.0272624548964986 2 P54886 1 |
| Flaring of rib cage 0.8197611292073834 2.8784033760632255 0.0039969370151216 0.9999999928715184 0.0274109121212732 3 P16278,Q7RTS9 2 |
| Atlantoaxial dislocation 0.819761129207383 2.8784033760632255 0.0039969370151216 0.9999999928715184 0.0274109121212732 3 Q3T906,Q8NCH0 2 |
| Frequent falls 0.4997889063237734 2.876595083254948 0.0040199106491138 0.9999999936015443 0.0275281600591366 46 P04062,O43681,Q13586,Q9NZJ7,O43819,Q9H3H5,Q7RTS9,P07602,O14521,P12235,P21912,Q13510,Q9H9S5,Q9NR77,P40939 15 |
| Hyporeflexia of upper limbs 0.8192182410423453 2.8757940237533357 0.0040301260504405 0.9999999939016738 0.0275578254310413 3 O75787,Q9NR77 2 |
| Abnormal response to endocrine stimulation test 0.8172227475157241 2.8661955820495866 0.0041543749629218 0.9999999966004568 0.0280794983063864 3 Q13423 1 |
| Abnormal brainstem mri signal intensity 0.6293121646553561 2.858435961826978 0.0042573503063376 0.9999999979055996 0.0286262400469391 23 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,Q9NPL8,Q8IUX1,P03886,Q96CU9 10 |
| Erlenmeyer flask deformity of the femurs 0.9095845777898408 2.8575243078042787 0.0042695993054324 0.999999998022868 0.0286262400469391 4 P04062,P07602,Q9NZJ7 3 |
| Subependymal cysts 0.7221166892808748 2.851804316974704 0.0043471852827636 0.9999999986274613 0.0290060055049359 2 O43933 1 |
| Finger agnosia 0.8137893593919652 2.849654061372438 0.0043766803655467 0.999999998805292 0.0291612671866584 3 P05067,O96008 2 |
| Abnormal retinal artery morphology 0.615136681828518 2.8475233363331625 0.0044060863674642 0.9999999989596504 0.0292324483643092 24 P10619,P03915,Q9Y4P3,Q9NZJ7,P21964,P07602,Q13510,P03886,P17900,P06865 10 |
| Loss of voice 0.8131750172103016 2.8466906863351147 0.0044176262960089 0.999999999014628 0.0292644158781422 3 Q13510 1 |
| Abnormal tongue morphology 0.4395906181521049 2.846274818182683 0.0044234001797021 0.9999999990410352 0.0292644158781422 82 Q96J42,Q6NUK1,Q9Y4P3,O15460,Q9Y5Y5,P07196,Q03252,Q3T906,O43924,O14521,O75844,P21912,P10253,Q96RL7,O75431,P02545,Q7LGA3,Q96A33,P20700,Q9UBM7,Q10713,Q9H9S5,P04066 23 |
| Abnormal myocardium morphology 0.3775665659651097 2.8449808675169 0.0044414090707216 0.9999999991189404 0.0293421157789284 202 Q7KZN9,Q9BTV4,Q9BT22,O43676,O96000,O43819,Q9Y4P3,Q86YT6,Q9NPL8,Q5XKP0,P40855,Q9Y5Y5,O43772,P03886,Q9H061,P08236,P23786,Q3T906,Q9NX14,Q8N183,Q96IX5,P50416,P13473,P54802,Q14108,O14521,Q9NVI7,Q9BUB7,P12235,P21912,Q9NWS8,Q8IUX1,Q96CU9,P10253,Q96RL7,Q9NZ08,P03915,Q9Y6M9,P00403,P42167,O60313,P02545,P50402,O75381,O76024,P04062,P40939,Q13423,Q86Y39,P53701,O95169,Q96I36,Q9H9S5,Q9P0J0,P15586 55 |
| Increased c peptide level 0.7207598371777181 2.8444786955711137 0.004448416055937 0.999999999147513 0.0293470152197311 2 P40939 1 |
| Complete atrioventricular canal defect 0.8112266242668995 2.83728512491185 0.0045498960646546 0.9999999994711646 0.0299742801221409 3 Q9UHX1 1 |
| Angiokeratoma 0.8110749185667752 2.83655233059526 0.0045603504331479 0.9999999994965496 0.0300009570630126 3 P16278,P04066 2 |
| Abnormal heart rate variability 0.9036073687038672 2.8314765709367427 0.0046333627916335 0.9999999996429356 0.0304385291949668 4 P07602 1 |
| Abnormal epiphyseal ossification 0.636096890326008 2.8200605830836616 0.0048014583548399 0.999999999838125 0.031048672296481 22 Q96HY6,Q9UG56,P38435,O96011,Q13608,P56589,Q7RTS9,Q14739,Q9UBM7,P40855,P50542,Q9Y5Y5,O75381,Q96L58,Q15125,Q15738,P08236,O00116 18 |
| Vitritis 0.807546145494028 2.8194883223187523 0.00481002811315 0.9999999998445244 0.031048672296481 3 Q9NX14,P53701 2 |
| Visual loss 0.465690955861788 2.81150754001088 0.0049309935004944 0.9999999999120196 0.0317263373026316 57 Q9NX14,P33897,P53701,O14773,P03915,O75503,Q9NZJ7,P00403,P07602,P51798,Q10713,O60313,Q9NWW5,P50897,P03886,P40939 16 |
| Poor gross motor coordination 0.804492440148201 2.8046925300666943 0.0050364598427998 0.999999999946449 0.0322719259968189 3 O75503 1 |
| Abnormality of retinal pigmentation 0.4303621218576032 2.802706950227285 0.0050675692395212 0.9999999999537446 0.0324269048058981 88 Q7KZN9,Q9UG56,P40855,Q9Y5Y5,P03886,Q6P4Q7,Q9NX14,P51648,Q8N183,O14521,Q96HR9,P21912,P51812,Q7Z4L5,P03915,P00403,P02545,O75381,P40939,O76024,Q96S66,P53701,Q9H9S5,Q9P0J0 24 |
| Limb ataxia 0.5672613284481169 2.7973313412511973 0.0051526661235374 0.999999999969014 0.0325703214041169 28 Q12768,P04062,Q8IV08,Q9Y4W6,P33897,O14773,Q14108,O75298,P07196,Q9NR77,Q9NW15 11 |
| Abnormal csf protein level 0.6866096268378352 2.7921175733571366 0.005236432529418 0.9999999999791128 0.033011372769575 17 O43681,P03915,Q9NZJ7,P20700,P07602,P00403,P03886,Q9NR77 8 |
| Abnormality of the tongue 0.4186527875283888 2.790511233562496 0.0052624874014894 0.9999999999815246 0.0331310362749687 108 Q96J42,Q6NUK1,Q9Y4P3,O15460,P40855,Q9Y5Y5,P07196,Q03252,Q3T906,O43924,O14521,Q9NWS8,O75844,P21912,Q13510,P10253,Q96RL7,O75431,P02545,O75381,Q9NX46,Q7LGA3,Q96A33,P20700,Q9UBM7,Q10713,P50542,Q9H9S5,P16278,P04066 30 |
| Peripheral demyelination 0.65385971147637 2.7840896893366693 0.0053678188728591 0.9999999999887492 0.0335027340383981 20 O43681,Q8TB36,Q9NZJ7,P20700,P07602,P07196,P50570,P03886,Q9NR77 9 |
| Decreased light and dark adapted electroretinogram amplitude 0.7984708535003222 2.7754374824411427 0.0055127496940552 0.9999999999943148 0.0341557137129031 3 P50897 1 |
| Prominent antihelix 0.7069199457259228 2.769375069834904 0.0056163938781284 0.9999999999965108 0.0347519008258301 2 Q92794 1 |
| Focal t2 hyperintense brainstem lesion 0.6514722824048395 2.768139435524798 0.0056377329646262 0.9999999999968444 0.0348379171587192 20 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,Q9NPL8,Q8IUX1,P03886 9 |
| Hepatomegaly 0.3732239794257445 2.7534387918746064 0.0058972796433716 0.999999999999071 0.0361555731015086 200 O43909,Q9BT22,O43676,P20674,O96000,Q9H3H5,P04066,Q6NUQ1,P07602,P14927,Q9NPL8,P40855,P09601,Q9Y5Y5,O43772,P03886,P08236,Q15067,Q9Y619,P23786,O75787,Q3T906,Q9UJS0,P35670,Q9NX14,Q8N183,Q9NZJ7,P50416,P54802,O14521,Q14108,Q9NVI7,Q9BUB7,Q9NWS8,Q8IUX1,Q13510,Q96CU9,P00374,P10253,Q96RL7,Q9HC07,P03915,O75431,Q9Y6M9,P14174,O75845,P51798,O75880,P02545,P35610,P15586,Q14739,O75381,P40939,P04062,Q86Y39,Q96A33,Q10713,Q96I36,P50542,P39210,P16278,Q16625,Q01844,Q96HY6,Q9HC21 66 |
| Abnormal chorioretinal morphology 0.5488897723465519 2.749981264154716 0.0059598672300478 0.9999999999993082 0.0363963730189621 33 Q12768,Q9NX14,P53701,Q96J42,O43505,Q10713,Q5XKP0,P40855,Q9H9S5,Q9Y5Y5,P50542,Q9Y619,O75381,P40939 14 |
| Abnormal choroid morphology 0.5488897723465519 2.749981264154716 0.0059598672300478 0.9999999999993082 0.0363963730189621 33 Q12768,Q9NX14,P53701,Q96J42,O43505,Q10713,Q5XKP0,P40855,Q9H9S5,Q9Y5Y5,P50542,Q9Y619,O75381,P40939 14 |
| Global brain atrophy 0.6010403329634287 2.743691853615832 0.006075253633444 0.9999999999995984 0.0368586191224207 24 P33897,O43819,Q9H3H5,Q9NZJ7,O95169,P07602,Q9UHX1,P35637 8 |
| Abnormal femoral neck head morphology 0.4683480031984985 2.735401441282775 0.0062304241075086 0.9999999999998068 0.0375584429219044 53 O43909,P48444,Q6NUQ1,Q9Y619,Q7RTS9,Q96DX4,Q9Y487,O75844,P51812,O75431,Q96MW5,Q8WVQ1,Q8WTW3,P02545,Q14739,Q7LGA3,Q96A33,Q93063,P50542,P16278,O95831,O75718,Q96HY6,P04066 24 |
| Abnormal pyramidal sign 0.3910378182921148 2.734805602670598 0.0062417125899247 0.9999999999998168 0.0375584429219044 139 Q9Y4W6,Q8WWI5,P07602,O15121,P51572,O00400,Q9UBB4,P07196,Q9Y619,Q15067,O75027,O75787,Q99720,P51648,O14773,Q9H6K4,P49589,Q9NZJ7,P49768,O14521,P21912,P41440,P51812,Q12768,Q9NZ08,Q6PJG6,O75477,O60313,Q8NI60,P35637,Q9NR77,P40939,Q9NX46,O43681,P33897,Q9P0J0,Q15043,P20700,O75298,Q9H9S5,Q6DKK2,O95831,P17900,P04066 44 |
| Visual agnosia 0.7863667547031794 2.7163110821697267 0.0066013858125368 0.9999999999999664 0.0394902824341287 3 P33897 1 |
| Lingual dystonia 0.6960651289009345 2.709978856274258 0.006728749739927 0.9999999999999816 0.0397545697124287 2 Q96RL7 1 |
| Leber optic atrophy 0.784744842562432 2.7083556445678876 0.0067617520561757 0.9999999999999842 0.0397545697124287 3 P03915,P03886 2 |
| Multiple glomerular cysts 0.784744842562432 2.7083556445678876 0.0067617520561757 0.9999999999999842 0.0397545697124287 3 P03915,P03886 2 |
| Low plasma citrulline 0.784744842562432 2.7083556445678876 0.0067617520561757 0.9999999999999842 0.0397545697124287 3 P03915,P03886 2 |
| Retinal arterial tortuosity 0.784744842562432 2.7083556445678876 0.0067617520561757 0.9999999999999842 0.0397545697124287 3 P03915,P03886 2 |
| Vertical nystagmus 0.7847184890924734 2.7082263174684624 0.0067643877157996 0.9999999999999843 0.0397545697124287 3 Q9NW15 1 |
| Elevated serum acid phosphatase 0.8738231872602509 2.700425753473912 0.0069250792061938 0.9999999999999928 0.0403871111363246 4 P07602,Q9NZJ7 2 |
| Cardiac valve calcification 0.8737442302470735 2.700075535080998 0.0069323734742956 0.9999999999999928 0.0403871111363246 4 P04062,O75431,O75844 3 |
| Mitral valve calcification 0.8737442302470735 2.700075535080998 0.0069323734742956 0.9999999999999928 0.0403871111363246 4 P04062,O75431,O75844 3 |
| High frequency sensorineural hearing impairment 0.873744230247064 2.7000755350809555 0.0069323734742965 0.9999999999999928 0.0403871111363246 4 Q9NWM8,O75844,Q13510 3 |
| Vascular skin abnormality 0.390325380664258 2.6956199361627387 0.0070257779633347 0.9999999999999954 0.0405927800250295 137 Q8NCH0,P10619,Q13586,Q6NUK1,P03886,Q8IZA0,Q3T906,Q8NI22,Q9NX14,P35670,P51648,P38435,O14521,Q14108,O75844,Q9Y487,P21912,Q15125,P51812,Q9NWM8,Q06136,P03915,P00403,P51798,P02545,P78536,P21964,Q14739,P04062,P53701,Q07954,Q16625,Q9Y2B2 33 |
| Progressive sensorineural hearing impairment 0.7604509758642188 2.691395764160103 0.0071153729685684 0.999999999999997 0.0410145029461552 12 P00403,O60313,Q86SK9,P03886,O76024 5 |
| Abnormal hdl cholesterol concentration 0.781259081870723 2.691231820366484 0.0071188708145226 0.9999999999999972 0.0410145029461552 3 Q9UJS0 1 |
| Abnormal nervous system electrophysiology 0.3603708539737427 2.6903486215388943 0.0071377410000585 0.9999999999999972 0.0410727012828924 222 Q9BQE5,Q9Y4W6,Q9H2C2,O75503,Q9H3H5,P07602,O15121,P40855,Q9Y5Y5,P50897,P07196,Q9Y619,P03886,Q9NQZ5,O95202,Q99720,O14773,Q9GZY8,Q9NZJ7,Q14108,P50570,Q15125,Q9NZ01,Q9Y5U9,P03915,P00403,O15269,O60313,P13073,P02545,P21964,O75381,Q9NR77,O43681,P33897,O95721,Q8TB36,O43292,Q96A33,Q9UBX3,Q92581,P20700,Q9NWW5,Q96N66,Q9Y2B2 45 |
| Episodic vomiting 0.7057623606383583 2.689270868835995 0.0071608287930979 0.9999999999999976 0.0411549964010686 15 P36551,Q86YH6,P03915,Q2TAA5,P22695,P00403,Q9Y619,P03886 8 |
| Central scotoma 0.7598841566110999 2.6883406704921313 0.0071808095264098 0.9999999999999978 0.0412192546834605 12 Q9H6K4,Q9Y287,O60313,Q8WWV3,P03886,Q9H061 6 |
| Prominent umbilicus 0.7803834031975946 2.6869244014310474 0.0072113272041696 0.999999999999998 0.0413437657580544 3 O75844 1 |
| Congenital muscular dystrophy 0.7796897154031104 2.6835105763065377 0.0072853670837134 0.9999999999999988 0.0417171875551511 3 P02545 1 |
| Fetal distress 0.567469151366191 2.6816438014205626 0.0073261419928851 0.9999999999999988 0.0418994494440465 26 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,Q9NVI7,Q9NPL8,P03886 9 |
| Reduced visual acuity 0.3919337392233017 2.6803350235757435 0.0073548508593714 0.999999999999999 0.0419611710417735 134 Q9Y4W6,O43676,O96000,P07602,Q9NPL8,P50897,P03886,Q9H061,Q13277,Q9NX14,Q8N183,Q9H6K4,Q9NZJ7,O14521,Q96HR9,Q8IUX1,Q9UHX1,P21912,Q9NZ08,Q9Y6M9,P51798,O60313,Q96S66,O43681,Q86Y39,P33897,P53701,Q15043,O43505,Q10713,Q8WWV3,P17900 32 |
| Abnormal tissue metabolite concentration 0.6374991674503021 2.674195321372555 0.0074908808596596 0.9999999999999994 0.04258165770224 20 O43681,P33897,O96011,Q9Y276,Q13608,Q9NZJ7,P56589,P07602,Q5T8D3,P40855,P50542,Q9Y5Y5,P06280,O75381,P17900,P06865 16 |
| Truncal titubation 0.776951094959552 2.670019167839388 0.0075846917021031 0.9999999999999996 0.042958519870195 3 Q5T8D3 1 |
| Cold induced muscle cramps 0.7760345862841611 2.6654991582124694 0.0076874124151149 0.9999999999999998 0.0434877291695633 3 Q9NR77 1 |
| Involuntary movements 0.3283868137637251 2.661976944835505 0.0077683199101865 1.0 0.0438380360939472 378 O14949,O43909,Q8TD16,O96008,O43819,P07602,Q5T8D3,P50897,Q03252,P03886,O75787,O14773,Q9H6K4,O43924,Q96IX5,Q14108,Q9UHX1,Q13510,P55795,Q96CU9,Q96RL7,Q96MW5,P00403,P13073,Q8NI60,P35637,Q9NR77,Q9NX46,Q01105,O43292,Q9UBX3,O75298,Q93063,O95831,Q9Y2B2,P17900,Q8WWI5,Q8NB90,Q9H2C2,Q15907,O75503,Q9H3H5,Q5XKP0,Q9UBB4,O95202,P61916,Q99720,P05067,Q15233,Q9NZJ7,O14521,P49768,P06280,Q9NZ01,P41440,Q5HYK3,P29992,P27544,Q6PJG6,O75845,O75477,O60313,Q9NW15,Q96DA6,O76024,P04062,O43681,P33897,Q15043,Q96N66,Q9P0J0,Q6DKK2,Q9NPL8,O00400,P07196,Q9NP58,Q9NQZ5,P35670,Q9BUB7,Q6P4A7,P12235,P21912,Q9Y287,P51798,O95169,P20700,Q9NWW5,O14653,Q9Y4W6,Q9Y4P3,Q9Y619,O75027,Q9UJS0,P49589,Q9NWS8,Q9BPX6,P00374,Q12768,P03915,Q92581,O00584,Q5JRX3,Q10713,Q9H9S5,Q53FT3 105 |
| Abnormality of pulmonary circulation 0.521035695492489 2.653326173589448 0.007970281070899 1.0 0.0447099359713665 37 P04062,Q8IZA0,P03915,Q9NZ08,Q6NUK1,P20674,Q8WTW3,O96000,P00403,P51798,Q14108,P02545,O75844,P03886,O14678 15 |
| Red green dyschromatopsia 0.773443237768025 2.6527057306459256 0.0079849450717872 1.0 0.0447327730653913 3 Q9H6K4 1 |
| Elevated pulmonary artery pressure 0.5373659475538699 2.6506327184653844 0.0080341155239509 1.0 0.0448531550824627 33 P04062,Q8IZA0,P03915,Q6NUK1,P20674,Q8WTW3,O96000,P00403,P51798,Q14108,P02545,O75844,P03886,O14678 14 |
| Abnormal peripheral nervous system physiology 0.4435851983665525 2.649421563028082 0.0080629686165187 1.0 0.0449372018480614 65 P07602,O15121,Q9UBB4,P07196,Q9Y619,Q9NQZ5,Q99720,Q9GZY8,Q9NZJ7,P50570,Q15125,Q96RL7,O15269,P02545,O60313,O95140,Q9NR77,O43681,O95721,P33897,Q8TB36,P20700,P39210,O95831,Q6UWE0 25 |
| Pulmonary carcinoid tumor 0.7726350525639967 2.6487116563373956 0.0080799236603763 1.0 0.044948173901666 3 O14521 1 |
| Bilateral coxa valga 0.7722584147665579 2.6468496378908664 0.0081245468960544 1.0 0.0450893100250226 3 Q96A33,Q96MW5 2 |
| Vacuolated lymphocytes 0.7722584147665581 2.6468496378908664 0.0081245468960544 1.0 0.0450893100250226 3 P16278,P04066 2 |
| Localized osteoporosis 0.6843962008141191 2.6456406986939687 0.0081536370808441 1.0 0.0451972024694367 2 P57740 1 |
| Abnormality of lysosomal metabolism 0.881038419095251 2.6424480937011485 0.0082309080467193 1.0 0.0455715996345547 7 Q3T906,Q9NZJ7,P51798,P07602,Q13510 5 |
| Abnormal femoral neck morphology 0.481703863825469 2.636503821660063 0.0083765256629722 1.0 0.0461352281519484 45 O43909,P48444,Q9Y619,Q7RTS9,Q96DX4,Q9Y487,O75844,P51812,O75431,Q96MW5,Q8WVQ1,Q8WTW3,P02545,Q96A33,Q93063,P50542,P16278,O95831,O75718,Q96HY6,P04066 21 |
| Generalized osteosclerosis 0.7700309749116983 2.635829007356867 0.0083932014806107 1.0 0.0461352281519484 3 Q15392 1 |
| Progressive neurologic deterioration 0.598212294075083 2.63406255980486 0.0084369941113309 1.0 0.0462209127689754 23 P04062,O43681,Q9NZJ7,Q9Y287,P54802,O14521,P07602,Q9NPL8,Q5XKP0,P20700,P21912 11 |
| Macular degeneration 0.6946769771458401 2.623376860121188 0.0087062910837389 1.0 0.0472540758241407 15 Q9NW15,P50897,P51648,Q13510 4 |
| Ankle clonus 0.6496083321454654 2.6190543692834685 0.0088173893027738 1.0 0.0478016799701305 18 P33897,Q15043,P49589,Q9NZJ7,P07602,O75298,Q9NW15 7 |
| Loss of subcutaneous adipose tissue in limbs 0.8550095031224497 2.6165521673590204 0.0088822790472873 1.0 0.0478881809239246 4 O75431,P02545,O75844 3 |
| Lagopthalmos 0.7659227962711479 2.615464304668272 0.0089106234508686 1.0 0.0479188980985865 3 O75844 1 |
| Broad femoral neck 0.8538843068767138 2.6115087809249187 0.0090143672915725 1.0 0.0483104077731417 4 Q8WVQ1,Q7RTS9 2 |
| Fluctuations in consciousness 0.7903368088134565 2.610562869232493 0.0090393355171758 1.0 0.0483741684978997 10 P04062,Q9UJS0,P03915,O95169,P00403,P03886 6 |
| Joint hemorrhage 0.7646988957193689 2.609387546574073 0.009070445279802 1.0 0.0483741684978997 3 Q8NI22 1 |
| Aplasia of metacarpal bones 0.6773405698778916 2.6064916114029653 0.0091475064572192 1.0 0.0483741684978997 2 Q08AM6 1 |
| Partial absence of thumb 0.6773405698778916 2.6064916114029653 0.0091475064572192 1.0 0.0483741684978997 2 Q08AM6 1 |
| Aplasia of the proximal phalanges of the hand 0.6773405698778916 2.6064916114029653 0.0091475064572192 1.0 0.0483741684978997 2 Q08AM6 1 |
| Increased cerebral lipofuscin 0.9000271665308398 2.595373446258185 0.0094488192424166 1.0 0.0496725806189447 6 O14773,O75503,Q9NZJ7,P07602,P50897 5 |
| Mortality aging 0.3962314541528335 2.591627139593379 0.0095523238216492 1.0 0.0500481932668962 121 Q9BT22,Q6NUK1,P20674,O96000,O43819,Q9Y4P3,Q6NUQ1,P07602,Q9NPL8,P40855,Q9Y5Y5,Q15067,Q3T906,Q13277,Q9NX14,P05067,Q96IX5,Q9NZJ7,O14521,Q9NVI7,Q9BUB7,Q9NWS8,O75844,P50570,P51812,Q15904,Q12768,O75431,P02545,Q14739,O75381,P04062,P16435,O95721,Q92581,P50542,Q9H9S5,P16278,O75718,Q9HC21 40 |
| Scotoma 0.6877131790212417 2.5817227079193907 0.0098308538589173 1.0 0.0513352502510244 15 P04439,P03915,Q9H6K4,Q9Y287,O60313,Q8WWV3,P03886,Q9H061,O95140 9 |
| Pseudoarthrosis 0.7568606901993202 2.570363889740954 0.0101591739632591 1.0 0.0526389058007808 3 O75844 1 |
| Recurrent cutaneous abscess formation 0.6705563093622692 2.5686716131340237 0.0102089149155948 1.0 0.05282040834121 2 P49768 1 |
| Optic nerve dysplasia 0.7563916999081328 2.568023106385253 0.0102280338098799 1.0 0.05282040834121 3 O43505 1 |
| Ophthalmoparesis 0.4125003919107269 2.5675123148718115 0.0102431150969748 1.0 0.0528400342667733 89 Q7KZN9,Q9Y4W6,Q13586,O43819,O15460,P03886,Q8N183,Q96IX5,Q9GZY8,O14521,Q9BPX6,Q96HR9,P12235,P21912,P50570,Q96CU9,P03915,P00403,O60313,O76024,P04062,O95169,Q92581,Q10713,Q9P0J0 25 |
| Butterfly vertebrae 0.8437603790313519 2.56599245609875 0.0102881065697568 1.0 0.0529910085997779 4 O75845 1 |
| Waddling gait 0.5237892870772248 2.565175368927223 0.0103123669404359 1.0 0.053022093028542 34 Q9BTV4,Q8TD16,Q4J6C6,Q8WVQ1,Q9H3H5,Q7RTS9,P02545,P50402,Q13510,P07196,Q9H9S5 11 |
| Peroneal muscle atrophy 0.8430627206081992 2.562846635890951 0.0103817896009126 1.0 0.0533205071169679 4 Q12768,P02545,Q9NR77 3 |
| Abnormality of lower limb joint 0.3615633969356143 2.5615947228788434 0.0104192824294593 1.0 0.0534544566260542 203 O43909,Q8TD16,Q9H3H5,Q9Y4P3,Q6NUQ1,P07602,Q86XL3,Q15041,Q03252,Q9Y619,P08236,O95202,P23786,O75787,Q3T906,P49589,Q9NZJ7,Q7RTS9,O14521,Q96DX4,O75844,Q9UHX1,Q13510,Q9Y487,P21912,Q15125,Q9Y584,O75431,Q6ZXV5,Q8WTW3,Q8WVQ1,P51798,P02545,Q9NW15,P21964,P37268,Q9NR77,P16435,Q02127,P33897,Q7LGA3,Q96A33,Q15043,Q9UBM7,Q93063,Q5JTV8,O75298,Q9H9S5,P16278,O95831,O75718,Q9Y2B2,Q96HY6 53 |
| Abnormality of corneal stroma 0.6208485916698948 2.5609168570357066 0.0104396336836278 1.0 0.0535002671489201 20 P04062,Q3T906,P10619,O43505,O75845,P50542,Q13510,Q16625 8 |
| Ambiguous genitalia male 0.7545286781688054 2.5587180223140744 0.0105058919300065 1.0 0.0537809812023502 3 O75845 1 |
| Ectopic calcification 0.4297983707611984 2.5495708467663114 0.010785559440565 1.0 0.0549723181932607 71 O15228,P40855,Q9Y5Y5,P03886,P08236,P23786,P35670,P38435,P05067,O75844,Q15125,P03915,O75431,O75845,P00403,P02545,O60313,Q14739,O75381,P04062,O00584,Q9UBM7,P50542,Q16625 24 |
| Conspicuously happy disposition 0.7500526398742574 2.536319195879661 0.0112024573512306 1.0 0.0567882145380564 3 Q92581 1 |
| Progressive hearing impairment 0.6632451751651521 2.5350224660035687 0.0112440114698462 1.0 0.0569372429456861 16 P00403,O60313,Q86SK9,P03886,O76024 5 |
| Optic atrophy 0.3526399193132243 2.533258623547839 0.0113007540624834 1.0 0.0571404690111692 221 Q7KZN9,Q9Y4W6,Q96J42,Q9H2C2,Q15907,O43819,O15460,Q9H3H5,P07602,Q5XKP0,P40855,P51572,Q9Y5Y5,P50897,P03886,Q9H061,Q15067,Q5KU26,O95202,Q6P4Q7,Q8N183,Q9H6K4,Q9GZY8,Q9NZJ7,Q9NVI7,Q9BPX6,Q96HR9,P06280,Q15125,P41440,Q96CU9,P51812,Q12768,Q9Y5U9,P29992,P03915,Q96TA2,Q6PJG6,Q6ZXV5,P00403,P51798,O60313,Q96DA6,P21964,O75381,O76024,O43681,Q86Y39,O95721,Q9H490,O43292,Q15043,O43505,O95169,Q9UBM7,P50542,Q9H9S5,P16278,Q9P0J0,Q53FT3,Q8WWI5,Q9HC21 62 |
| Abnormal cns myelination 0.3704997030223568 2.5330171229287712 0.0113085428636536 1.0 0.0571404690111692 157 Q7KZN9,O43676,O96000,O43819,Q9H3H5,P07602,Q5T8D3,Q9NPL8,P40855,P51572,Q9Y5Y5,O00400,P03886,O75787,Q9NX14,Q99720,P51648,Q8N183,P49589,Q9NZJ7,Q9NWS8,Q8IUX1,P21912,Q96CU9,P10253,Q9Y584,Q9Y6M9,O75746,P35637,O43681,Q86Y39,P33897,Q7LGA3,Q9H490,Q9P0J0,Q8TB36,O95169,P20700,O00584,Q53FT3,Q96I36,Q9UHJ6,O95831,Q5BJH7,Q9Y2B2 45 |
| Heparan sulfate excretion in urine 0.8357110073807977 2.529624536032007 0.0114184643857331 1.0 0.057571676192437 4 P15586,P54802 2 |
| Aplasia hypoplasia of the palmar creases 0.746536299431455 2.5186804646612893 0.0117795502176731 1.0 0.0589630970406946 3 Q8NCH0 1 |
| Peripheral axonal degeneration 0.4132736068834887 2.51859083273307 0.0117825488535632 1.0 0.0589630970406946 83 Q8IV08,Q9Y4W6,P38935,P07602,Q9H0B6,P07196,P03886,Q15067,P03905,Q9NZJ7,Q9NVI7,Q9BPX6,P12235,P50570,P41440,Q96RL7,P03915,Q96MW5,P00403,O15269,O60313,P02545,O95140,O76024,Q9NX46,P33897,Q8TB36,P39210,O95831,Q6UWE0,Q6DKK2,Q9HC21 32 |
| Upper limb postural tremor 0.7460664074180141 2.5163205543517866 0.0118587271003764 1.0 0.0592809794430774 3 Q9NR77 1 |
| Visual impairment 0.3253964424352476 2.5133096905315626 0.0119604289417123 1.0 0.0593460266556998 321 Q9Y4W6,O43676,O75503,O96000,Q9Y4P3,O43819,O15460,P07602,Q9NPL8,Q5XKP0,P40855,Q9Y5Y5,P50897,P03886,Q9H061,Q5KU26,Q6P4Q7,Q13277,Q9NX14,Q8N183,O14773,Q9H6K4,Q9GZY8,Q9NZJ7,O14521,P13473,Q6P4A7,Q96HR9,P12235,Q9UHX1,P21912,Q8IUX1,O95831,Q9NZ01,Q96CU9,P06865,P78318,Q9NZ08,P03915,Q9Y6M9,Q9Y287,P00403,P51798,O60313,P37268,O75381,P40939,Q96S66,O43681,Q86Y39,Q01105,Q7LGA3,P33897,P53701,Q9H490,O43292,Q96A33,Q15043,O43505,Q86YV9,O95169,P20700,P16278,Q10713,Q53FT3,Q9Y6B6,Q9NWW5,Q9H9S5,Q8WWV3,Q96N66,P50542,Q5BJH7,P17900 73 |
| Morphological abnormality of the pyramidal tract 0.5583325688028148 2.511831577708978 0.0120106394818984 1.0 0.0594741243258797 25 Q12768,P33897,Q9Y4P3,O75298,P35637,O00400,O95831,Q9Y619 8 |
| Abnormality of the umbilical cord 0.791631796074954 2.5118021807916375 0.0120116399684633 1.0 0.0594741243258797 9 P16435,Q9Y2B2,O75844,Q12768 4 |
| Abnormal enchondral ossification 0.4925968475557655 2.506370200823407 0.0121977833756212 1.0 0.0602048654704004 40 O43909,O95202,Q9UG56,P38435,Q8WVQ1,Q7RTS9,Q14739,Q9UBM7,P40855,P50542,Q9Y5Y5,Q9Y619,Q15125,P08236,O75381,Q96HY6 16 |
| Abnormality of epiphysis morphology 0.4209578230435211 2.5044677315912165 0.0122635791266603 1.0 0.0603388704089043 76 O43909,O75419,Q9UG56,O15228,Q6NUQ1,P40855,Q9Y5Y5,Q9Y619,P08236,O95202,P38435,Q7RTS9,Q96DX4,Q15125,P51812,Q7Z4L5,Q9HC07,Q8WVQ1,P51798,Q14739,O75381,P16435,Q7LGA3,Q9UBM7,P50542,P16278,O95831,Q9Y2B2,Q96HY6 29 |
| Polar cataract 0.8297583491718521 2.5026275952157406 0.0123275180883108 1.0 0.0605898160814777 4 Q7LGA3,Q9Y287,P08670 3 |
| Hypocholesterolemia 0.7895885836177278 2.5016803685163724 0.0123605462314677 1.0 0.0606884680798689 9 Q9NZJ7,P07602,Q9NVI7,Q15800,Q9Y6B6,P37268 6 |
| Pancreatic fibrosis 0.742671009771987 2.4992482046532474 0.0124457108214091 1.0 0.0609787756145191 3 Q96J42,O15078 2 |
| Decreased activity of mitochondrial complex iv 0.6311043175264737 2.4978590683066857 0.0124945855972207 1.0 0.061154272661841 18 Q9Y2R0,Q70HW3,Q9Y584 3 |
| Cerebellar atrophy 0.3681103644685886 2.4944353051362613 0.0126157721819717 1.0 0.0615838573553559 158 Q8IV08,Q9Y4W6,P51970,Q9BT22,O75503,O15121,Q5XKP0,P51572,Q9Y5Y5,Q9UBB4,O00400,Q92643,O75787,O14773,Q9H6K4,Q9GZY8,P49589,Q9NVI7,Q14108,P12235,P41440,Q96CU9,Q5HYK3,Q9Y320,Q96MW5,Q8WTW3,O75845,P51798,O60313,Q8NI60,P13073,Q9NW15,Q9NX46,P46977,Q9H490,O43292,Q15043,Q92581,Q5JRX3,Q10713,Q9H9S5,Q6DKK2,Q5BJH7,Q8WWI5 44 |
| Abnormality of the 5th toe 0.7063554047757288 2.4859657436277565 0.0129200401793332 1.0 0.0626474826086924 13 O43909,Q96J42,O43924,O75845,Q10713,Q14739,Q7Z4L5 7 |
| Postaxial foot polydactyly 0.7063554047757288 2.4859657436277565 0.0129200401793332 1.0 0.0626474826086924 13 O43909,Q96J42,O43924,O75845,Q10713,Q14739,Q7Z4L5 7 |
| Bulbar signs 0.6551985858794285 2.484816856484015 0.0129618099557857 1.0 0.0627850236120998 16 P04062,O43681,Q99720,Q9NZJ7,P07602,P03886 6 |
| Connective tissue nevi 0.739567488731678 2.483612897740702 0.0130057100971747 1.0 0.0629325889412878 3 Q6NUK1 1 |
| Phenotypic variability 0.3941555872140324 2.4821868595217436 0.0130578780608328 1.0 0.0630046377681073 113 Q9Y4W6,Q8TD16,Q9Y276,Q13586,Q9H3H5,O14979,P07602,O15121,P57740,O95470,Q9UBB4,P07196,P03886,Q9H061,P03905,P33993,P06753,Q9NZJ7,Q9NWS8,Q6P4A7,P21912,Q13510,Q15125,P00374,Q53H12,P03915,Q92733,Q8WVQ1,P00403,Q70HW3,O60313,Q8NI60,P02545,O95140,Q9NR77,P36551,Q13813,Q9Y2R9,Q9H9S5,O00217,Q6UWE0,P17900 42 |
| Generalized myoclonic seizure 0.4546538071275939 2.480504806069356 0.0131196495120575 1.0 0.0631576961094323 48 P04062,Q9Y5U9,Q9Y4W6,Q01105,Q9H3H5,Q9NZJ7,O14521,P07602,P21912,Q13510,Q96N66,Q9Y619,P03886 13 |
| Recurrent gastroenteritis 0.7387775537718512 2.4796286027708314 0.0131519293080319 1.0 0.0632480871445809 3 P78536 1 |
| Abnormal circulating fatty acid concentration 0.541402434043898 2.47365014660452 0.0133740592742661 1.0 0.0640532654812502 26 P23786,P33897,O75431,O75880,P40855,Q9Y5Y5,O43772,O75381,P40939 9 |
| Decreased ldl cholesterol concentration 0.8227629061276268 2.4707899254324968 0.0134814988571927 1.0 0.0645018801298169 4 Q15800,P37268 2 |
| Epiphyseal stippling 0.6352184993406174 2.465276345082847 0.0136907616408115 1.0 0.0653695489557198 17 Q15738,O96011,P38435,Q13608,P56589,Q9UBM7,Q14739,P40855,P50542,Q9Y5Y5,O00116,Q15125,P08236,O75381 14 |
| Abnormal metabolic brain imaging by mrs 0.5860197164459153 2.4636462961155208 0.0137531756491848 1.0 0.0656006871087392 22 P03915,O43819,Q9NZJ7,O95169,O14521,P07602,P00403,P21912,P35610,P03886 10 |
| Abnormal protein o linked glycosylation 0.7340494284891214 2.4557411653186927 0.014059438115638 1.0 0.0663854920702102 3 Q8N511 1 |
| Visual fixation instability 0.7338135564441256 2.4545477141997285 0.0141061942902649 1.0 0.066472247540846 3 Q13510 1 |
| Decreased absent ankle reflexes 0.6328438134849945 2.449873226000527 0.014290651973227 1.0 0.0670715569565087 17 O75787,Q96RL7,Q9H6K4,O60313,P12235,Q15041,P07196 7 |
| Peripheral axonal neuropathy 0.4253143730698355 2.4485811290888893 0.0143420126995974 1.0 0.0672452327176321 67 Q8IV08,Q9Y4W6,P07602,Q9H0B6,P07196,P03886,P03905,Q15067,Q9NZJ7,Q9NVI7,Q9BPX6,P12235,P50570,Q96RL7,P03915,Q96MW5,P00403,O15269,O60313,O95140,O76024,P33897,P39210,O95831,Q9HC21 25 |
| Duplication involving bones of the feet 0.5381642781979243 2.447475621103958 0.0143860857133524 1.0 0.0673420095503243 26 O43909,O95202,Q96J42,O43924,O75845,P21964,Q14739,Q10713,Q15125,Q7Z4L5 10 |
| Nasogastric tube feeding in infancy 0.8087157294198293 2.4473423402149637 0.0143914072501867 1.0 0.0673420095503243 8 P07602,Q9UHX1 2 |
| Spastic paraparesis 0.5497349068708689 2.444400126078145 0.0145093247333374 1.0 0.0678260250009506 25 P04062,Q9Y4W6,P33897,Q9H6K4,O14521,Q5XKP0,P21912,Q9Y5Y5,Q6DKK2 9 |
| Hyperintensity of cerebral white matter on mri 0.5495340355974406 2.442818704065819 0.0145730560078478 1.0 0.0680276212664083 25 O43681,P10253,Q15043,O75503,Q9NZJ7,P07602,P21912,P17900 8 |
| Abnormal placental size 0.8161228441640286 2.4404580066839654 0.0146686512667153 1.0 0.0682981734923406 4 O75844 1 |
| Babinski sign 0.3977229849336258 2.437305209233627 0.0147971840976168 1.0 0.068759930866307 101 Q9Y4W6,P07602,O15121,O00400,Q9UBB4,P07196,Q15067,O75027,O75787,Q99720,O14773,Q9H6K4,Q9NZJ7,P49768,O14521,P21912,P41440,P51812,Q12768,Q6PJG6,O75477,O60313,P35637,Q9NR77,P40939,Q9NX46,O43681,P33897,Q15043,P20700,O75298,Q6DKK2,O95831,Q8WWI5 34 |
| Abnormal bone structure 0.3533770404786568 2.430006049528483 0.0150985708180471 1.0 0.0697946372399271 206 O43909,Q9UG56,Q6NUK1,Q9H3H5,Q9Y4P3,O15228,P07602,Q86XL3,P40855,Q9Y5Y5,Q9Y619,P08236,O43683,O95202,Q3T906,Q15392,Q13277,P35670,P38435,Q9NZJ7,Q7RTS9,P54802,O14521,Q14108,Q96DX4,O75844,Q9Y487,Q13510,P12235,P21912,Q15125,Q9NWM8,Q9Y5U9,Q9HC07,O75431,Q32P28,Q8WTW3,Q8WVQ1,O75845,P51798,P02545,Q14739,O75381,P04062,Q9H490,O43292,Q15043,Q9NVV0,Q9UBM7,Q93063,P50542,P16278,O95831,Q9Y2B2,Q96HY6,Q9HC21 56 |
| Psoriasiform dermatitis 0.8138017794137261 2.429829642933796 0.01510592118187 1.0 0.0697946372399271 4 Q15800,P78536 2 |
| Hepatic failure 0.4301784684070308 2.4297495970518415 0.0151092575066793 1.0 0.0697946372399271 58 Q16836,O15460,Q6NUQ1,P40855,Q9Y5Y5,Q9Y619,P03886,O43772,P03905,P23786,P35670,Q13608,P50416,Q13510,P28288,P03915,O75845,O75381,P40939,P04062,P54098,O96011,P56589,P22830,Q10713,Q9Y2R9,P08574,P50542,P39210,P06748,O43933 31 |
| Recurrent hand flapping 0.7270772552827907 2.4203923533148113 0.0155037688487751 1.0 0.071056412218848 3 P55795 1 |
| Urinary glycosaminoglycan excretion 0.8025790172308238 2.4180382557758957 0.0156044361613847 1.0 0.0712458080783655 8 Q3T906,P54802,P15586,P08236,P04066 5 |
| Abnormality of the achilles tendon 0.6773258337799507 2.415000985154214 0.0157351671302605 1.0 0.0714737514810425 14 Q9BTV4,P02545,Q15041,P50402,Q9H9S5,O60313 6 |
| Abnormal circulating proline concentration 0.7250637720383634 2.410156480887374 0.0159456797263723 1.0 0.0720614435617638 3 O96000 1 |
| Abnormal st segment 0.7250271444082517 2.4099701639021713 0.0159538251437978 1.0 0.0720614435617638 3 Q9HD47,P54098 2 |
| St segment elevation 0.7250271444082517 2.4099701639021713 0.0159538251437978 1.0 0.0720614435617638 3 Q9HD47,P54098 2 |
| Respiratory distress 0.4248093631768294 2.4038978642301125 0.0162213046653814 1.0 0.0730582606275447 63 P04062,P23786,O75419,Q9NX14,P10253,P51970,P53701,P03915,P51571,O43819,Q9NZJ7,O95169,P07602,Q9UHX1,Q13510,O95831,Q9Y619,P03886 18 |
| Tube feeding 0.4170095043228306 2.4004909068069504 0.0163730975427005 1.0 0.0736710748222952 72 Q3T906,P33897,Q99720,Q01105,Q9GZY8,Q9NZJ7,P07602,O15121,Q9UHX1,Q9Y2B2,Q9NZ01,P37268 12 |
| Abnormal auditory evoked potentials 0.7485901993613482 2.396604928578125 0.01654775481483 1.0 0.0743141740677507 10 Q9NZJ7,P07602,O60313,P07196,Q15125 5 |
| Arthritis 0.4465550475105483 2.392574560072499 0.0167306283631196 1.0 0.0750111303019301 48 P04062,P35670,Q96RL7,Q9NZ08,Q8WVQ1,O15460,P14174,P10321,P51798,Q14108,P21964,P02545,O75844,Q13510,Q14739,Q96HY6 16 |
| Angina pectoris 0.8056269956348165 2.3922903760254823 0.016743589613773 1.0 0.0750111303019301 4 P02545,O75844 2 |
| Cloverleaf skull 0.7210965454949116 2.389952268084943 0.0168505626112271 1.0 0.0753130107547597 3 P16435 1 |
| Failure to thrive 0.3154548624655796 2.383224523143776 0.0171617236877876 1.0 0.0765009080086469 341 Q7KZN9,Q9H2C2,Q6NUK1,O43676,P48444,O96000,Q9H3H5,Q9Y4P3,O15228,P07602,O15121,Q5XKP0,Q9NPL8,P40855,P51572,Q9Y5Y5,Q9Y619,P03886,O95202,Q3T906,Q15392,Q9UJS0,P35670,Q9NX14,Q8N183,Q4J6C6,P51571,O43924,P49589,Q9NZJ7,Q7RTS9,O14521,Q9BUB7,O75844,Q9Y487,Q13510,P12235,P21912,Q8IUX1,Q15125,P10253,Q9HC07,P03915,P20674,Q9Y6M9,Q8WTW3,O75845,P00403,O75880,P02545,P13073,P78536,P21964,Q14739,P37268,O75381,P40939,P04062,Q13423,Q86Y39,P33897,P46977,O95721,P53701,P42892,O95169,P20700,Q8N5M9,Q15800,Q9Y6B6,Q9P0J0,Q53FT3,Q16625,P04066 74 |
| Paroxysmal involuntary eye movements 0.5852488104418849 2.3831469565382357 0.0171653403751255 1.0 0.0765009080086469 21 Q9NX14,Q86Y39,Q8N183,O43676,Q9Y6M9,O96000,Q9NPL8,P03886 8 |
| Disproportionate short limb short stature 0.5300663265859211 2.3816896638589635 0.0172334137538849 1.0 0.0767248703829877 26 Q15392,Q7LGA3,P48444,Q32P28,Q8WVQ1,Q8WTW3,O15228,Q7RTS9,Q14739,Q9UBM7,Q15125 11 |
| Biliary tract abnormality 0.5143436829746842 2.3787045669679645 0.017373593949987 1.0 0.0769895118843324 30 O95202,P04062,O43681,Q9NZJ7,P14174,P07602,Q14108,Q5XKP0,P02545,Q10713,P09601,Q14739 12 |
| Temperature instability 0.7646559305217023 2.3771960790467306 0.0174448121405175 1.0 0.0771715196026775 9 P20700,P07602,Q9NZJ7,Q9HC21 4 |
| Cardiac conduction abnormality 0.4990199012450452 2.376327994503987 0.0174859117661594 1.0 0.0771715196026775 35 P23786,Q9BTV4,Q9H490,P03915,Q07954,O43819,O95169,O14521,P00403,P02545,P21912,P50402,P06280,O43772,P03886 15 |
| Paralysis 0.4297679850785811 2.3727572501397036 0.0176558634420886 1.0 0.0772502304906078 56 Q9BTV4,P38935,Q15165,Q92804,Q9NP58,Q15233,O14521,P21912,P10253,P51798,P02545,P50402,P35637,O95140,Q9NR77,P04062,P36551,Q8TB36,P20700,P17900,Q9HC21 21 |
| Abnormal thoracic spine morphology 0.5087008561027417 2.369328283804754 0.0178204280333031 1.0 0.0776675914382618 32 O43909,P04062,Q3T906,P51648,P06753,O75845,Q7RTS9,O75477,P02545,O75844,Q9UHX1,P50542,O95831,P08236 14 |
| Functional abnormality of the inner ear 0.3316847191918686 2.3692318182311753 0.0178250770273551 1.0 0.0776675914382618 280 Q9UG56,O43676,O96000,O15460,Q9Y4P3,P07602,Q9NPL8,Q5XKP0,P40855,O95470,Q9Y5Y5,P07196,P51572,Q96L58,P03886,Q9H061,Q15067,P38159,O95202,Q3T906,Q9NX14,Q8N183,Q9NZJ7,P49768,O14521,Q96HR9,O75844,P12235,Q13510,Q86SK9,P21912,P06280,Q15125,P41440,Q96CU9,Q8IUX1,Q15904,P51812,Q9NWM8,P78318,Q9NZ08,P03915,Q5JRA6,Q9Y6M9,P00403,P42167,O15269,O60313,Q9NR28,P02545,P35637,Q96DA6,O75381,Q9NR77,O76024,P04062,O43681,Q86Y39,P33897,Q7LGA3,O95721,Q2TAA5,Q15043,P42892,Q9NVV0,P20700,O00584,Q9UBM7,P50542,O95831,O00165,Q8NB90 72 |
| Abnormal biliary tract morphology 0.5157820337845598 2.363291728493363 0.0181134046864481 1.0 0.0788505460514156 27 P04062,O43681,Q9NZJ7,P14174,P07602,Q14108,Q5XKP0,P02545,Q10713,P09601,Q14739 11 |
| Ventricular preexcitation 0.7420686093145236 2.362696176066735 0.0181425364155918 1.0 0.0789040302419982 10 P03915,P03886,P00403,P10253 4 |
| Aplastic clavicle 0.7989742918002396 2.361618358885566 0.0181953626820188 1.0 0.0789139618542371 4 Q9Y619,Q9Y2B2 2 |
| Prominent ear helix 0.7985637444777837 2.3597219494930877 0.0182886370299206 1.0 0.0792451210436155 4 P02545,O75844 2 |
| Mixed demyelinating and axonal polyneuropathy 0.8185560494503576 2.3589253529171215 0.0183279420832853 1.0 0.0793420339354054 7 P00403,P07196,P03886,P35670 4 |
| Abnormal cardiac ventricular function 0.5496001740162431 2.354191711303799 0.0185630345526244 1.0 0.0802114887864324 24 P10253,P03915,O14521,P00403,P02545,O75844,P12235,P21912,P03886 9 |
| Hypopigmented skin patches 0.5036267834804303 2.353535139266985 0.0185958501729928 1.0 0.0802504799326774 33 Q8IZA0,Q9NX14,Q9NZJ7,P21964,O14521,P07602,P21912,Q15125,Q9NP58 9 |
| Ragged red muscle fibers 0.5603085068873712 2.3527294448580407 0.018636188316224 1.0 0.0802504799326774 23 Q9H2D1,Q9H3H5,P00403,Q70HW3,P12235,P03886 6 |
| Impaired vibration sensation in the lower limbs 0.6177949395407166 2.351633245915717 0.018691193877887 1.0 0.0803944463948789 17 Q12768,P33897,P54886,O43819,Q13608,O75298,Q9H0B6,O00400,Q9NR77 9 |
| Proximal muscle weakness 0.4079900394275333 2.350127280541022 0.0187669924523274 1.0 0.0806464152722036 77 Q9BTV4,Q8TD16,Q13586,Q9H3H5,Q5T8D3,P07196,Q99720,P35670,P13473,O14521,Q9BPX6,P12235,P21912,Q13510,P50570,P10253,O60313,Q8NI60,P50402,P02545,Q8TB36,Q9H9S5 22 |
| Capillary hemangioma 0.7879001368541957 2.347537447946505 0.0188979733756806 1.0 0.0810487860275727 8 P16435,O43909,Q7LGA3,Q9UHX1 4 |
| Postural tremor 0.590015436699034 2.347250458678502 0.0189125369616005 1.0 0.0810487860275727 20 O14773,P03915,Q9H6K4,P20700,Q14108,P35637,P03886,O95140,Q9NR77 9 |
| Left ventricular systolic dysfunction 0.787154552652726 2.3439411886735417 0.0190811799050536 1.0 0.0815604465501743 8 O14521,O75844,P12235 3 |
| Infantile axial hypotonia 0.6809295014379444 2.340134552286764 0.0192767936257867 1.0 0.0822336077806784 13 Q9GZY8,Q9NZJ7,Q9H3H5,P07602,P17900 5 |
| Generalized hyperkeratosis 0.8415831564051626 2.3397693366668 0.01929565298008 1.0 0.0822391615638717 6 O14521,P02545,O75844,P21912 4 |
| Abnormal circulating free fatty acid concentration 0.7928592033349084 2.333328097102316 0.0196309318667062 1.0 0.0835920771487747 4 O75431 1 |
| Schizophrenia 0.5457852378357697 2.3246278777253 0.0200918667987219 1.0 0.0852104223197472 24 P04062,Q9BQE5,P16615,Q9NZJ7,P07602,P21964,O76024 7 |
| Increased bone mineral density 0.5103100894744647 2.324439579356967 0.0201019463414433 1.0 0.0852104223197472 28 P04062,Q15392,Q15043,Q9Y4P3,P54802,P51798,Q14108,Q14739,Q15125 9 |
| Cherry red spot of the macula 0.7540691007022156 2.3237924975442334 0.020136618041016 1.0 0.0852802160073411 9 P10619,Q9NZJ7,P07602,Q13510,P17900,P06865 6 |
| Abnormal thyroid stimulating hormone level 0.6271370420624258 2.3224770459957194 0.0202072629925413 1.0 0.0854587837994937 2 O14654 1 |
| Peripheral hypermyelination 0.7076621206914898 2.3211768741697965 0.0202772997666733 1.0 0.085566551447836 3 Q9NR77 1 |
| Anteriorly placed anus 0.6775054298447718 2.320309927602408 0.0203241174585901 1.0 0.085628939894894 13 P16435,Q6NUK1,Q9Y2B2,Q9NX14 4 |
| Hand oligodactyly 0.6263229308005406 2.317791936568548 0.0204606315502504 1.0 0.0860301599473726 2 Q15427 1 |
| Abnormality of the musculature of the lower limbs 0.502752274183942 2.3167122863148917 0.0205194098428964 1.0 0.0861999243983202 32 Q12768,P33897,Q9BTV4,P02545,P50402,Q9H9S5,P07196,P50570,Q9NR77,Q9NW15 10 |
| Hyperlipoproteinemia 0.7322986100810223 2.3116506985512504 0.0207969403345809 1.0 0.0868981878030124 10 Q9UJS0,P02545,Q8N511,P50402 4 |
| Increased ldl cholesterol concentration 0.7322986100810223 2.3116506985512504 0.0207969403345809 1.0 0.0868981878030124 10 Q9UJS0,P02545,Q8N511,P50402 4 |
| Hypolipoproteinemia 0.808088751457311 2.310497041074064 0.0208606521647136 1.0 0.0870867154541165 7 Q15800,Q9UJS0,P02545,P37268 4 |
| Tremor 0.3510870544162523 2.305644281903381 0.0211305168121194 1.0 0.0877995361652467 192 Q9Y4W6,Q9H2C2,O75503,Q9H3H5,Q9Y4P3,P07602,Q5T8D3,Q9UBB4,P07196,P03886,Q9NP58,Q9NQZ5,O75027,O75787,Q9UJS0,Q99720,P35670,O14773,Q15233,Q9H6K4,O43924,Q9NZJ7,O14521,Q14108,Q9BUB7,Q6P4A7,P12235,P21912,Q13510,Q9BPX6,P41440,Q5HYK3,Q96RL7,P03915,Q6PJG6,Q9Y287,P51798,O60313,Q8NI60,Q9NW15,P35637,Q96DA6,Q9NR77,O76024,Q9NX46,P04062,O43681,O43292,Q15043,P20700,Q5JRX3,Q10713,O14653,O95831,Q6DKK2 55 |
| Abnormality of visual evoked potentials 0.5429296215382073 2.3024362941785914 0.0213105801764428 1.0 0.0883665487929946 24 O43681,Q86YH6,Q9GZY8,O75503,Q9NZJ7,P51798,P07602,O60313,Q15067,O95140 10 |
| Osteolytic defects of the distal phalanges of the hand 0.7860008837647131 2.3014889171144817 0.0213640111213155 1.0 0.0884783625926102 4 O75431,O75844 2 |
| Difficulty walking 0.3911527949970873 2.298804088514158 0.0215160665531879 1.0 0.0888306152257198 94 Q9H2C2,Q9H3H5,P07602,Q15041,Q99720,P35670,O14773,Q9NZJ7,Q7RTS9,Q9BPX6,Q96DX4,Q13510,P50570,Q12768,Q9NR77,O43681,P33897,O43292,O75298,O14653,Q9H9S5,Q9HC21 22 |
| Multiple mitochondrial dna deletions 0.7032199568618631 2.2983146085032877 0.0215438896021387 1.0 0.0888306152257198 3 P12235 1 |
| Nocturia 0.7032199568618631 2.2983146085032877 0.0215438896021387 1.0 0.0888306152257198 3 P12235 1 |
| Vascular tortuosity 0.7849579147433987 2.296636782761473 0.0216394985006203 1.0 0.0890680237055454 4 P03915,P03886,P05067 3 |
| Episodic respiratory distress 0.7849579147433945 2.2966367827614533 0.0216394985006214 1.0 0.0890680237055454 4 P03915,P53007,P03886 3 |
| Posterior fossa cyst 0.7839836747767426 2.2921019505952756 0.0218997608762079 1.0 0.0897357372071266 4 Q12768,Q9UHX1 2 |
| Paraparesis 0.4861112799260409 2.29180894600659 0.0219166702316295 1.0 0.0897357372071266 36 P04062,O75787,Q9Y4W6,P33897,Q9H6K4,O14521,Q5XKP0,Q13510,P21912,Q9Y5Y5,Q9Y619,Q6DKK2 12 |
| Mitral stenosis 0.783741555478954 2.2909745827621677 0.021964883753291 1.0 0.0898545986903191 4 P04062,O75844 2 |
| Abnormality of extrapyramidal motor function 0.3924621908092012 2.2902449269002667 0.0220071223838349 1.0 0.0899488318026901 89 O14949,Q9Y4W6,O96008,Q9Y4P3,P07602,Q9UBB4,O75787,Q99720,P05067,Q9H6K4,Q96IX5,Q9NZJ7,Q9BPX6,P12235,P06865,Q96RL7,P35610,P35637,P04062,Q15043,Q9NWW5,P16278,P17900,Q6DKK2 24 |
| Ichthyosis 0.4482896046257885 2.28844915978505 0.0221113775950028 1.0 0.0902175023127118 45 P04062,O95721,P51648,Q13586,Q9Y2B2,Q15800,P40855,P02545,O95470,Q9Y5Y5,P50402,Q15125,O75381 13 |
| Elevated circulating growth hormone concentration 0.6208955223880706 2.2864928121010424 0.0222254441568561 1.0 0.0905201004131046 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.6208955223880706 2.2864928121010424 0.0222254441568561 1.0 0.0905201004131046 2 P10644 1 |
| Very long chain fatty acid accumulation 0.7075625680087109 2.2861836406389693 0.0222435174157735 1.0 0.0905201004131046 11 P33897,O96011,Q13608,P56589,Q5T8D3,P40855,P50542,Q9Y5Y5,O75381,O43933 10 |
| Leukodystrophy 0.414243083946764 2.2829949076436447 0.0224306683256196 1.0 0.0911233741866457 64 Q7KZN9,O43676,O96000,O43819,P07602,Q9NPL8,Q9Y5Y5,P03886,Q9NX14,Q8N183,Q9NZJ7,Q8IUX1,P21912,Q9Y6M9,O43681,Q86Y39,O95169,P20700,Q9P0J0,Q53FT3 20 |
| Abnormality of the metacarpal bones 0.4428623321273479 2.281623824117189 0.0225115589202169 1.0 0.0913727400193207 46 O43909,O95202,P16435,P51812,Q6NUK1,O43924,Q32P28,Q8WVQ1,Q7RTS9,P51798,Q9UBM7,Q96DX4,Q93063,P16278,Q96L58,Q14739,P08236 17 |
| Retinal degeneration 0.4099652370019219 2.277501106708774 0.0227563186152133 1.0 0.0920471471447834 69 P04062,Q96S66,Q3T906,Q9UG56,P51648,Q7LGA3,O14773,Q9H2C2,O75503,Q10713,Q96HR9,P02545,O60313,Q13510,P50897,Q9NWW5,Q9NW15 17 |
| Photophobia 0.4728204771560039 2.2743170547728857 0.0229469304724692 1.0 0.0926581227009015 39 Q6P4Q7,Q9Y4W6,P51648,Q9NZ08,Q9NZJ7,Q9Y287,P07602,Q96HR9,Q8WWV3,P40939 10 |
| Clonus 0.4602721177656814 2.272154722180175 0.0230771669139362 1.0 0.093103746619188 42 P07602,O00400,Q9Y619,O75027,O75787,Q99720,P49589,Q9NZJ7,Q12768,Q6PJG6,Q9NW15,P35637,P33897,Q15043,P20700,O75298,Q9H9S5,Q53FT3,Q8WWI5 19 |
| Abnormality of fontanelles 0.4230449248757087 2.2701755290940886 0.023196935127397 1.0 0.0935064063138794 55 Q8NCH0,Q9BT22,Q6NUK1,P20674,O15228,P40855,Q9Y5Y5,Q9Y619,Q9Y487,O75844,Q15125,P51812,Q32P28,P02545,O75381,P16435,Q9UHJ6,P50542,O75718 19 |
| Abnormality of the distal phalanges of the toes 0.8258276617807858 2.2695406865058088 0.0232354659257223 1.0 0.0935498439018368 6 O75431,Q8WVQ1,O75844,Q7LGA3 4 |
| Abnormal circulating long chain fatty acid concentration 0.7242317106336837 2.269280070052 0.0232512997230596 1.0 0.0935498439018368 10 P23786,P33897,O96011,Q13608,P56589,P40855,P50542,Q9Y5Y5,O75381 9 |
| Hypoproteinemia 0.7790308709977638 2.269011480975897 0.0232676276997523 1.0 0.0935498439018368 4 Q9H3H5 1 |
| Pace of progression 0.3494233523373892 2.265597630258085 0.0234760303152181 1.0 0.0939843811935742 190 P05023,Q8IV08,Q9Y4W6,Q9BTV4,Q13586,Q9H3H5,O14979,P38935,O15121,Q5XKP0,Q9H0B6,O95470,Q9Y5Y5,O00400,Q03252,P07196,Q8N1F7,Q9NQZ5,O75787,Q99720,Q8N183,O14773,Q9GZY8,P54802,P49768,Q14108,P12235,Q13510,P50570,P41440,Q12768,Q96RL7,P27544,Q9Y6M9,Q6PJG6,O75477,O60313,Q9NR28,P50402,P02545,O95140,Q9NR77,P04062,P33897,Q9P0J0,Q8TB36,Q15043,Q8N766,P20700,O00584,Q10713,O75298,Q5JTV8,O14653,P39210,O95831,P15586,Q6UWE0 58 |
| Ectopic anus 0.6044124488118521 2.2633572891290146 0.0236136733804914 1.0 0.0943741007800529 17 P16435,Q12768,Q9NX14,Q6NUK1,Q9Y2B2 5 |
| Renal tubular dysfunction 0.4411087548030549 2.2627178581030383 0.0236530872568758 1.0 0.0944127928736639 46 Q9NX14,P35670,Q8N183,Q86Y39,P03915,O43676,Q9Y6M9,O96000,O43819,P50416,P00403,Q9NWS8,Q9NPL8,O95169,P40855,Q8IUX1,P03886 17 |
| Facial myokymia 0.6962540716612375 2.2623422061981677 0.0236762686637159 1.0 0.0944127928736639 3 O15020,P33897 2 |
| Stroke like episode 0.7222262338165406 2.258715119205085 0.0239011113772236 1.0 0.0951260017566549 10 P51970,P03915,Q13586,Q9H3H5,P00403,P03886,O76024 7 |
| Undetectable electroretinogram 0.8505652857447147 2.2564765247140217 0.0240408038723796 1.0 0.0955783396951248 5 O14773,P50897 2 |
| Abnormality of alkaline phosphatase level 0.5676195767859178 2.256204495110359 0.0240578271777438 1.0 0.0955783396951248 21 Q9UJS0,Q8N511,Q96A33,Q9Y2B2,O75845,P51798,Q14739 7 |
| Pathologic fracture 0.5767367087872008 2.2536511594410533 0.0242181221817774 1.0 0.0960522305668463 20 P04062,Q3T906,P35670,O75845,O15269,Q14108 6 |
| Recurrent acute respiratory tract infection 0.7751487040893432 2.250869834863419 0.0243937828032732 1.0 0.0965853581154114 4 Q03519,Q03518 2 |
| Enlarged ovaries 0.8489742172955099 2.2496307950780374 0.0244723919182452 1.0 0.0968147666765715 5 O14521,P21912 2 |
| Dysdiadochokinesis 0.6020496252429707 2.2476815619916857 0.0245965025389109 1.0 0.0971416677000498 17 O75027,Q9Y4W6,O75503,P49589,P20700,Q9UBB4,Q6DKK2 7 |
| Abnormal joint morphology 0.313871266711813 2.24128772723213 0.0250074434154217 1.0 0.098598371176629 320 O43909,Q8NCH0,Q9BTV4,Q8TD16,Q9H3H5,Q9Y4P3,O15460,Q6NUQ1,P07602,P10321,Q86XL3,Q15041,P07196,Q03252,Q9Y619,P08236,O95202,P23786,Q3T906,Q8NI22,Q8IZA0,Q15392,P35670,P38435,O75787,Q9H6K4,P51571,P49589,Q9NZJ7,Q7RTS9,O14521,Q14108,Q9BUB7,Q96DX4,O75844,Q9UHX1,Q13510,Q9Y487,P21912,Q15125,Q9Y584,Q96RL7,Q9NZ08,O75431,Q6ZXV5,Q8WTW3,Q8WVQ1,P14174,P51798,O15269,P02545,P50402,Q9NW15,P21964,Q14739,P37268,Q9NR77,P04062,P16435,Q02127,P33897,Q7LGA3,Q96A33,Q15043,P16278,P42892,Q9UBM7,O75298,Q93063,Q9H9S5,Q5JTV8,P50542,O95831,O75718,Q9Y2B2,Q96HY6 76 |
| Thickened ribs 0.772468096660315 2.238321326487882 0.025200108349457 1.0 0.0991207419876952 4 P16278,P15586,P54802 3 |
| Hepatic encephalopathy 0.7723300927095493 2.237674817229958 0.0252422686296656 1.0 0.0991902569306658 4 Q6NUQ1 1 |
| Barrel shaped chest 0.8185093779273251 2.2367283428441462 0.0253041003959695 1.0 0.0993498795094059 6 P04066,Q14739,Q7RTS9 3 |
| Pigmentary retinopathy 0.4158008737424978 2.2329315556833502 0.0255534582674901 1.0 0.1002448898868707 57 Q7KZN9,Q96S66,Q9NX14,Q9UG56,Q8N183,P40939,P03915,P53701,O14521,P00403,P21912,Q9H9S5,P50542,Q9P0J0,P03886,Q96CU9,O76024 17 |
| Head banging 0.6904433737870159 2.2322219136971033 0.025600299782893 1.0 0.100260705838688 3 Q9H3H5 1 |
| Scanning speech 0.6902064536390232 2.230991629761995 0.0256816834635702 1.0 0.1004115236589007 3 O14773 1 |
| Progressive spasticity 0.5822190551201025 2.2285319981331684 0.0258450600117965 1.0 0.100966022598211 19 Q9NZJ7,P07602,O15121,O60313,P17900 5 |
| Abnormality of hepatobiliary system physiology 0.386280381331367 2.2239097858680124 0.0261545145377224 1.0 0.1016142181936503 93 Q8N511,Q9BT22,O43819,O15460,Q6NUQ1,Q5XKP0,P40855,Q9Y5Y5,O43772,P03886,Q9Y619,P23786,O75787,P35670,P50416,Q9NWS8,Q13510,P03915,O75845,O75381,P40939,P04062,P22695,Q96A33,O95169,Q10713,P50542,Q16625 28 |
| Heinz bodies 0.6097693351424808 2.22197608271589 0.0262849219893226 1.0 0.1019193498327709 2 P11413 1 |
| Abnormality of facial adipose tissue 0.7680530877853236 2.2176148467834684 0.0265811047131812 1.0 0.102558397427134 4 P02545,O75844 2 |
| Redundant skin 0.4943875569856702 2.2160676827600305 0.0266868671390057 1.0 0.1028817166083149 31 Q9NX14,Q8NCH0,P38435,Q6NUK1,O96000,Q9Y4P3,Q9Y487 7 |
| Reduced tendon reflexes 0.3440994398316767 2.212981246278448 0.0268989386125453 1.0 0.1035288647996403 199 O43909,P05023,Q9BTV4,Q8TD16,Q9H2C2,Q9BT22,Q13586,O43819,Q9H3H5,O14979,P38935,P07602,P53007,P40855,Q15041,Q9H0B6,Q9Y5Y5,Q9UBB4,P07196,P03886,Q15067,P03905,Q9BTW9,O75787,Q99720,Q9H6K4,P06753,Q9NZJ7,P50416,P54802,Q9NWS8,P12235,Q13510,P50570,P41440,P10253,Q96RL7,P03915,O75477,O15269,O60313,P02545,P50402,P35610,P35637,O75381,Q9NR77,O95140,P04062,P40939,O43681,O95721,Q8TB36,Q8N766,O43505,Q10713,Q9Y6B6,P50542,P39210,O14653,O95831,Q9H9S5,Q9Y2B2,Q6UWE0,Q9HC21 65 |
| Short lingual frenulum 0.7652164755734702 2.2042855824081773 0.0275042662498596 1.0 0.105346808125891 4 O75844 1 |
| Areflexia 0.3786926415204967 2.2039345653247584 0.0275289462437453 1.0 0.1053476995144634 107 P05023,Q8TD16,Q9BT22,Q13586,O43819,Q9H3H5,P38935,P53007,Q15041,P07196,Q15067,Q9BTW9,O75787,Q9H6K4,P06753,Q9NWS8,P12235,Q13510,P50570,P41440,P10253,Q96RL7,O75477,O15269,O60313,P02545,O95140,Q9NR77,P40939,O95721,Q8TB36,O43505,Q9Y6B6,P50542,P39210,O14653,O95831,Q9H9S5,Q6UWE0 39 |
| Abnormality of peripheral nerves 0.4107369847856013 2.19752922466513 0.0279826716486246 1.0 0.106996599185435 58 P07602,O15121,Q9UBB4,P07196,Q9Y619,Q99720,Q9GZY8,Q9NZJ7,P50570,Q96RL7,O15269,P02545,O95140,Q9NR77,O43681,O95721,Q8TB36,Q93063,P39210,O95831,Q6UWE0 21 |
| Abnormal heart sound 0.7834646217046118 2.195509311484125 0.0281270836969047 1.0 0.1073734800621857 7 O14521,Q3T906 2 |
| Carcinoid tumor 0.762552946564091 2.191751495873414 0.028397455167181 1.0 0.1082291944695493 4 O14521 1 |
| Dyschromatopsia 0.755414180944768 2.1894691126430192 0.0285627611456973 1.0 0.1085060609946847 8 Q9H6K4,O60313,Q9H061 3 |
| Achilles tendon contracture 0.66957099478296 2.1871880281081704 0.0287288004917785 1.0 0.1090483804728448 12 Q9BTV4,O60313,P02545,P50402,Q9H9S5 5 |
| Furrowed tongue 0.7269928442304039 2.18572601473526 0.0288356564366825 1.0 0.1093653560724055 9 Q96J42,O14521 2 |
| Central apnea 0.752146113002842 2.17341180284986 0.0297493372968333 1.0 0.1122851699422784 8 P07602,Q9NZJ7,O76024 3 |
| Progressive gait ataxia 0.6365898418935466 2.1706864652667663 0.0299548809962741 1.0 0.1129699376703287 14 O14773,P07602,Q9NZJ7,Q9NW15 4 |
| J shaped sella turcica 0.8300484079388527 2.1677940335593613 0.030174361006287 1.0 0.1135626766076143 5 Q3T906,O75431 2 |
| Abnormality of central nervous system electrophysiology 0.3463954576294453 2.1670990995380968 0.0302272985776232 1.0 0.1135626766076143 179 Q9BQE5,Q9H2C2,O75503,Q9H3H5,P07602,P40855,Q9Y5Y5,P50897,P07196,P03886,Q9NQZ5,O95202,Q9GZY8,Q9NZJ7,Q14108,Q9NZ01,P00403,O60313,P13073,P21964,O75381,P33897,O43292,Q96A33,Q9UBX3,Q96N66,Q9Y2B2 27 |
| Prominent antitragus 0.6777958740499455 2.1663066375715765 0.0302877628466855 1.0 0.1135626766076143 3 Q92643,Q92794 2 |
| Urinary bladder sphincter dysfunction 0.6854405948515891 2.164962162403765 0.0303905830387041 1.0 0.1136285676166952 11 O75298,P33897,Q9NR77 3 |
| Aplasia of the phalanges of the hand 0.6775244299674266 2.1648866135886773 0.0303963696036975 1.0 0.1136285676166952 3 P02545,Q08AM6 2 |
| Cns demyelination 0.6048212479735148 2.163875370017758 0.0304739156864886 1.0 0.1138061335827459 16 P07602,P33897,Q9NZJ7,P51648 4 |
| Dermal atrophy 0.4896875158695589 2.163633827801734 0.0304924632037459 1.0 0.1138061335827459 30 Q9NWM8,Q15392,Q9NX14,Q8NCH0,P53701,P02545,O75844 7 |
| Abnormality of skull ossification 0.604432299308428 2.1613528343932593 0.0306680945322033 1.0 0.1143705054051276 16 Q6NUK1,Q32P28,P54802,Q93063,P02545,O75844,Q14739,Q9HC21 8 |
| Brain imaging abnormality 0.4254272502330726 2.1595293371492583 0.0308091238521723 1.0 0.1148050406711021 48 P33897,P03915,Q9BT22,O43819,Q9H3H5,Q9NZJ7,O14521,P07602,P00403,O95169,P21912,P35610,P03886 13 |
| Gait disturbance 0.3065459327315351 2.1575761402664435 0.0309608014198341 1.0 0.1151869689042916 369 O14949,O43909,Q9BTV4,Q8TD16,P48444,O43819,P07602,Q5T8D3,Q03252,P03886,O75787,O14773,Q9H6K4,O43924,Q7RTS9,P13473,Q14108,O75844,Q13510,P55795,Q96CU9,Q96RL7,P00403,P35637,Q9NR77,Q7LGA3,O43292,O75298,Q93063,P50542,P39210,P16278,O95831,Q9Y2B2,Q8NB90,P05023,Q9H2C2,Q15907,O75503,Q9H3H5,Q5XKP0,Q9UBB4,Q15067,Q3T906,Q99720,P05067,Q9GZY8,Q9NZJ7,O14521,P49768,P50570,P41440,Q5HYK3,Q9NZ08,Q6PJG6,O75477,O60313,Q9NW15,O95140,P04062,O43681,P33897,Q15043,Q8N766,Q9UID3,Q96N66,Q6UWE0,Q9HC21,Q8IV08,Q96S52,P38935,P53007,Q15041,Q9H0B6,O00400,P07196,P03905,Q9BTW9,P35670,P06753,Q9NVI7,P12235,P21912,O15269,P50402,P40939,Q8TB36,P20700,O14653,Q9Y4W6,Q9Y4P3,Q9Y619,Q4J6C6,P49589,Q9BPX6,Q96DX4,P51812,Q12768,P03915,Q8WVQ1,P02545,Q92581,Q5JRX3,Q10713,Q9H9S5 105 |
| Neoplasm of the gallbladder 0.7548458533493893 2.155384482596159 0.0311317596356532 1.0 0.1154561853787806 4 P07602,Q9NZJ7 2 |
| Biliary tract neoplasm 0.7548458533493893 2.155384482596159 0.0311317596356532 1.0 0.1154561853787806 4 P07602,Q9NZJ7 2 |
| Progressive peripheral neuropathy 0.7548458533493893 2.155384482596159 0.0311317596356532 1.0 0.1154561853787806 4 P07602,Q9NZJ7 2 |
| Posterior embryotoxon 0.5023459719782695 2.1529141937552794 0.0313254227740578 1.0 0.1160825002165243 26 Q9NX14,P53701,Q7LGA3,Q9Y4P3,P40855,Q9Y5Y5,P21964,O75381 8 |
| Absent epiphyses 0.7474395408423546 2.150236672070204 0.031536498764096 1.0 0.1167723005620757 8 Q8WVQ1,Q7LGA3,Q7RTS9 3 |
| Vertebral wedging 0.6746193299027948 2.1496749679061704 0.0315809338328199 1.0 0.1168021966896932 3 Q8WVQ1 1 |
| Echolalia 0.6479172510507428 2.1471576905644207 0.0317807297470345 1.0 0.117305703810173 13 O75787,Q9UJS0,Q9NX14,P53701,Q9UHX1 5 |
| Atlantoaxial abnormality 0.7984567260345637 2.1461978203726875 0.0318571994139533 1.0 0.117495371696817 6 Q3T906,Q9NWM8,Q7RTS9 3 |
| Abnormal myelination 0.328907503725667 2.1443748946349057 0.0320028601811568 1.0 0.1179050260216862 244 Q7KZN9,Q9Y4W6,Q9H2C2,O43676,O96000,O43819,Q9H3H5,P07602,Q5T8D3,O15121,Q9NPL8,P40855,P51572,Q9Y5Y5,O00400,P07196,P03886,Q5KU26,O75787,Q9NX14,Q99720,P51648,P35670,Q8N183,P49589,Q9NZJ7,Q9NWS8,Q8IUX1,P21912,P50570,Q96CU9,P00374,Q9Y5U9,P10253,Q9Y584,Q96RL7,P03915,Q9Y6M9,Q6ZXV5,P00403,O15269,O75746,P02545,P35637,Q9NR77,O43681,Q86Y39,P33897,Q7LGA3,Q9H490,Q2TAA5,Q9P0J0,Q8TB36,O95169,P20700,O00584,Q53FT3,Q96I36,Q9UHJ6,P39210,O95831,Q5BJH7,Q9Y2B2,Q8NB90 64 |
| Leukoencephalopathy 0.3731607874334963 2.144178150420132 0.0320186150938481 1.0 0.1179050260216862 110 O43676,O75503,O96000,P07602,O15121,Q9NPL8,P03886,O95202,Q9NX14,Q8N183,P51571,Q9NZJ7,Q9BUB7,Q8IUX1,Q9UHX1,Q9Y6M9,O60313,O43681,Q86Y39,Q01105,P33897,P20700,O00584,Q9NWW5,Q9H9S5,P17900 26 |
| Deformed sella turcica 0.7708380261599797 2.1359701721042192 0.0326818451444326 1.0 0.1201583694321211 7 Q3T906,O75431,Q7RTS9 3 |
| Abnormalities of placenta or umbilical cord 0.584314201197253 2.1291599114064144 0.0332410323746388 1.0 0.1219271696498106 17 P16435,Q12768,P02545,O75844,Q9Y2B2 5 |
| Fulminant hepatic failure 0.6701565415656182 2.126257177109189 0.0334818515865351 1.0 0.1222782470325008 3 P40939 1 |
| Calcific stippling 0.7486924156360757 2.126243412653897 0.0334829970714514 1.0 0.1222782470325008 4 Q15125,O15228 2 |
| Abnormal brain lactate level by mrs 0.6292760586745803 2.1261186694648417 0.0334933797913532 1.0 0.1222782470325008 14 P03915,O43819,O95169,P00403,P21912,P03886 6 |
| Mandibular aplasia 0.8196617949705282 2.1225635878198528 0.0337904389154524 1.0 0.1232666790342516 5 Q9Y619,Q9NX14,P53701 3 |
| Easy fatigability 0.487185399946995 2.119609874238588 0.0340389590726664 1.0 0.123404399610193 27 Q9NWM8,Q13586,Q9H3H5,O14521,P12235,P21912,P50570 7 |
| Shoulder girdle muscle weakness 0.5827788919048599 2.118828589346597 0.0341049556922146 1.0 0.123419844584433 17 P54098,Q8TD16,P06753,Q9NZJ7,O14979,P07602,P12235,Q9H9S5,P46976,P43243 10 |
| Retrocollis 0.7471086148374673 2.1187278723315215 0.0341134714031821 1.0 0.123419844584433 4 Q99720 1 |
| Atrophic scars 0.7398308751034398 2.112647389899586 0.0346309593560074 1.0 0.1250666257698835 8 Q9NWM8,Q8NCH0,Q07954 3 |
| Hyperreflexia 0.3208729533253204 2.1120705811142164 0.0346803958685069 1.0 0.1251486704530711 276 O43909,O14949,Q7KZN9,Q9Y4W6,Q8TD16,P20674,O75503,Q9H3H5,Q9Y4P3,P07602,Q86XL3,Q5XKP0,P40855,Q15041,Q9Y5Y5,Q9UBB4,O00400,Q9Y619,P03886,Q15067,Q5KU26,O75027,O75787,Q99720,Q8N183,O14773,Q15233,Q9H6K4,Q96IX5,Q9GZY8,Q9NZJ7,P49589,Q7RTS9,P49768,O14521,Q96HR9,P21912,Q96CU9,Q12768,Q5HYK3,Q9Y5U9,Q9NZ08,Q9Y320,P03915,Q6PJG6,O75746,O60313,Q8NI60,P13073,Q9NW15,P35637,Q14739,O75381,Q9NR77,P04062,O43681,P33897,Q9P0J0,Q2TAA5,O43292,Q15043,P20700,Q5JRX3,Q10713,Q53FT3,O75298,P50542,Q6DKK2,Q96N66,O95831,P17900,Q16625,Q9H9S5,Q8WWI5 74 |
| Nyctalopia 0.4633978844455712 2.111567756150299 0.0347235406170853 1.0 0.1252079016554487 37 Q6P4Q7,Q96S66,P38435,Q13586,Q9H3H5,Q9Y287,P40855,Q96HR9,Q9Y5Y5,O75381,P40939 11 |
| Color vision defect 0.5960534933886448 2.106846045743931 0.0351309267082415 1.0 0.125901500154096 16 Q6P4Q7,Q9H6K4,O60313,Q8WWV3,Q9H061 5 |
| Contractures of the large joints 0.6658367868326014 2.103532623539763 0.0354192366196046 1.0 0.1264509941510886 3 O75431 1 |
| Osteopenia 0.3882220568660174 2.100532032300476 0.0356820658754419 1.0 0.1269244331949015 78 Q9Y4P3,O15228,P07602,Q3T906,Q13277,Q9NZJ7,Q14108,Q96DX4,O75844,Q9Y487,Q9NWM8,Q9Y5U9,O75431,Q32P28,Q8WTW3,P02545,P04062,Q9H490,O43292,Q9NVV0,O75718 21 |
| Supernumerary bones of the axial skeleton 0.7883047110620243 2.1000188514485245 0.0357271828494663 1.0 0.1269244331949015 6 O75431,Q9UHX1 2 |
| Chorioretinal dysplasia 0.7882763238956302 2.099889400524269 0.0357385713808511 1.0 0.1269244331949015 6 O43505,Q9NX14,P53701 3 |
| Abnormal peripheral myelination 0.4433897372714166 2.0991321250186408 0.0358052552537819 1.0 0.1269244331949015 42 O43681,Q96RL7,P03915,Q8TB36,Q9NZJ7,P20700,P07602,O15269,P02545,Q9H0B6,P39210,P07196,P50570,P03886,O95140,Q9NR77 16 |
| Abnormal peripheral nervous system morphology 0.3393616391019961 2.098304622178838 0.0358782444824439 1.0 0.1270247144034522 194 Q8IV08,Q9Y4W6,O43819,Q9H3H5,P38935,P07602,O15121,P53007,P40855,Q9H0B6,Q9Y5Y5,Q9UBB4,P07196,Q9Y619,P03886,Q15067,P03905,Q9BTW9,Q99720,P06753,Q9GZY8,Q9NZJ7,P49768,O14521,Q9NVI7,Q9BPX6,P12235,Q9UHX1,Q13510,P21912,P50570,P41440,P51812,Q96RL7,P03915,Q96TA2,Q96MW5,P00403,P51798,O15269,O60313,P02545,P35637,O75381,Q9NR77,O95140,Q9NX46,O76024,O43681,P33897,O95721,Q07954,Q8TB36,Q15043,P20700,Q93063,P50542,P39210,Q9H9S5,O95831,Q6UWE0,Q6DKK2,Q9HC21 63 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.7619942690989115 2.0940369548521307 0.0362566884028032 1.0 0.1280741542071874 7 Q8WVQ1,Q7LGA3,Q7RTS9 3 |
| Muscle stiffness 0.5262366951068075 2.0922681768210225 0.0364145327598353 1.0 0.1285227393793365 23 P23786,Q15392,P33897,Q9NZJ7,P07602,Q9NW15 6 |
| Lower limb spasticity 0.3758610855605943 2.090576901289229 0.0365660081554881 1.0 0.1287783324814335 96 Q7KZN9,Q9Y4W6,P07602,Q5XKP0,Q15041,Q9Y5Y5,Q9UBB4,O00400,Q9Y619,O75787,Q99720,Q8N183,Q9H6K4,Q9NZJ7,O14521,P21912,Q96CU9,Q12768,Q5HYK3,O75477,O60313,P35637,P04062,P33897,Q9P0J0,O75298,O95831,Q6DKK2 28 |
| Motor seizure 0.3632557729002382 2.0868518722319007 0.0369015264983831 1.0 0.1297648274162363 121 O43909,Q9Y4W6,O75503,Q9H3H5,P07602,Q5XKP0,Q9Y619,P03886,Q9GZY8,Q9NZJ7,O14521,P21912,Q13510,Q9NZ01,Q9Y5U9,P03915,Q9Y320,P13073,P04062,Q01105,O43292,Q9UBX3,Q92581,O14653,Q8WWV3,Q96N66 26 |
| Peripheral neuropathy 0.339483898234207 2.082331471781605 0.0373122031381951 1.0 0.1309141269657724 190 Q7KZN9,Q9Y2R0,Q8IV08,Q9Y4W6,P04066,O43819,O15460,P07602,O15121,Q9NPL8,Q15041,O95470,P07196,P03886,Q5KU26,Q3T906,P35670,Q8N183,Q9GZY8,Q9NZJ7,P54802,Q9NVI7,Q9NWS8,Q9BPX6,P12235,P50570,Q96CU9,Q96RL7,P03915,Q96MW5,P00403,O15269,O60313,Q9NR77,O76024,P40939,O43681,P33897,Q9P0J0,O95721,Q8TB36,O95169,Q10713,P50542,P39210,O95831,Q9HC21 47 |
| Psychosis 0.4457044272995809 2.081885794487752 0.0373529026309202 1.0 0.1309588292838552 41 P61916,P36551,Q9UJS0,P33897,Q96RL7,P03915,Q9Y287,P49768,P00403,Q5JRX3,P03886,P51812,Q6DKK2,O76024 14 |
| Dysostosis multiplex 0.6885826996446984 2.0796204501634334 0.0375603597425127 1.0 0.1313006250856608 10 Q3T906,P10619,P54802,P15586,P08236,P04066 6 |
| Abnormality of fundus pigmentation 0.7388831318143996 2.0795969312402716 0.0375625187051207 1.0 0.1313006250856608 4 Q9Y619 1 |
| Hypopigmentation of the fundus 0.7388831318143996 2.0795969312402716 0.0375625187051207 1.0 0.1313006250856608 4 Q9Y619 1 |
| Chronic hepatic failure 0.6602250054293453 2.0739273405152443 0.0380860594252014 1.0 0.1324388287658825 3 P40939 1 |
| Chronic axonal neuropathy 0.7372025024084552 2.0715813502430707 0.038304500652943 1.0 0.1330657971959054 4 O15269 1 |
| Ankylosis 0.8079699349980206 2.0713813018683966 0.0383231768610752 1.0 0.1330657971959054 5 P16435,O75844 2 |
| Cerebral dysmyelination 0.7308919240613578 2.068290648851639 0.0386127005590331 1.0 0.1335566568711204 8 P07602,Q9NZJ7 2 |
| Recurrent abscess formation 0.6589344547339192 2.067105602317991 0.0387242043278566 1.0 0.1337551968965997 3 P49768 1 |
| Increased serum lactate 0.363133274974785 2.066446757962633 0.0387863147709568 1.0 0.1337551968965997 119 O14949,Q7KZN9,P51970,P20674,O43819,P14927,Q5XKP0,P03886,Q8N183,Q9NVI7,Q9BUB7,Q6P4A7,Q9NWS8,P12235,P21912,Q8IUX1,Q96CU9,Q53H12,Q9Y584,P03915,Q9Y6M9,P00403,Q70HW3,O75880,Q8NI60,P13073,P35610,Q96DA6,Q86Y39,Q86YH6,Q9P0J0,Q99797,P22695,Q9UBX3,O95169,Q5JRX3,Q96I36,O95831 38 |
| Abnormal acetabulum morphology 0.4805324596289661 2.0620218444355225 0.0392056563021085 1.0 0.1345342814059169 27 O43909,Q3T906,Q9Y584,Q8WVQ1,Q8WTW3,Q7RTS9,Q6NUQ1,P16278,O75718,P08236 10 |
| Oromandibular dystonia 0.7543396144100991 2.0575887440484553 0.0396296280656147 1.0 0.1356909194878213 7 Q15043,Q96RL7,Q99720 3 |
| Abnormal shoulder physiology 0.7333014311109886 2.0529490908518113 0.040077515204248 1.0 0.1371242375578509 4 Q3T906,O75844 2 |
| Infantile muscular hypotonia 0.3824964302070659 2.0509363815758768 0.0402731425759297 1.0 0.1376929925734707 80 O43909,O43819,Q9H3H5,P07602,P03886,Q9GZY8,Q9NZJ7,Q9Y487,Q13510,P10253,P03915,Q96MW5,Q2TAA5,Q15043,O95169,Q9H9S5,P16278,Q9Y2B2,P17900 19 |
| Temporal pattern 0.7527241134473828 2.0498783267282463 0.040376305661363 1.0 0.1379450151114694 7 P04062,O60313,Q9NR77 3 |
| Generalized onset motor seizure 0.3954888905043345 2.0489193741902247 0.0404699995091422 1.0 0.1381643423475379 64 P04062,Q9Y5U9,Q9Y4W6,Q01105,P03915,Q9Y320,Q9H3H5,Q9NZJ7,O14521,P07602,P21912,Q13510,Q96N66,Q9Y619,P03886 15 |
| Limb joint contracture 0.3576572683152546 2.0474049875385827 0.0406183370826689 1.0 0.1385069086413669 126 O43909,O75419,Q9BTV4,Q8TD16,Q9H3H5,Q86XL3,P07196,Q9Y619,P23786,Q3T906,Q8IZA0,Q15392,Q99720,O14521,Q9BUB7,O75844,P21912,Q8WVQ1,O60313,P02545,P50402,P35637,P37268,Q9NR77,P16435,Q02127,P33897,Q7LGA3,P42892,Q5JTV8,P50542,Q9H9S5,Q9Y2B2,Q9HC21 34 |
| Abnormality of circulating leptin level 0.7321184004198328 2.0472914005521514 0.0406294817406571 1.0 0.1385069086413669 4 P02545,O75844 2 |
| Psychomotor deterioration 0.6998654391133625 2.0452649754393435 0.0408287417343153 1.0 0.1390710392957287 9 P50897,P07602,Q9NZJ7 3 |
| Ulnar claw 0.8019697120480898 2.045005208691082 0.0408543445924258 1.0 0.1390710392957287 5 P07196,Q8TB36,Q9NR77 3 |
| Emg abnormality 0.3733868718622236 2.043831325925087 0.040970213325725 1.0 0.139364182438414 94 Q9BTV4,Q13586,O43819,Q9H3H5,P38935,P07602,P53007,P07196,O14773,Q9NZJ7,P13473,P49768,P12235,Q13510,P50570,Q96RL7,P29992,P03915,P42167,O15269,O60313,Q8NI60,P50402,P02545,Q9NW15,O95140,Q9NR77,O43681,Q8TB36,Q9Y6B6,Q9H9S5,P39210 32 |
| Hemivertebrae 0.662217932814241 2.035967177925865 0.0417536512232512 1.0 0.1412087381441941 11 P16435,Q9Y619,Q15125,Q9UHX1 4 |
| Abnormal femoral head morphology 0.5187906811507876 2.034389218401928 0.0419123680538819 1.0 0.1416432409555434 23 O43909,Q7LGA3,O75431,Q8WVQ1,Q7RTS9,Q6NUQ1,Q96DX4,P50542,P16278,O95831 10 |
| Brushfield spots 0.7238379994563349 2.0331395237796683 0.0420384288867692 1.0 0.1419668355483973 8 O96011,Q13608,P56589,P40855,P50542,Q9Y5Y5,O75381 7 |
| Spasticity 0.2987980064056875 2.0294307852975866 0.0424144321474764 1.0 0.1431334295236164 352 O43909,Q8TD16,O43819,P07602,Q86XL3,P50897,P03886,O75787,P51648,Q9H6K4,Q7RTS9,Q13510,Q96CU9,P35637,Q01105,Q9H490,Q2TAA5,O43292,Q9UBX3,O75298,P50542,P16278,O95831,Q5BJH7,P17900,Q8NB90,Q7KZN9,P51970,Q9H2C2,Q15907,O75503,O15121,Q15165,Q5XKP0,Q92804,Q9Y5Y5,Q9UBB4,Q99720,Q9GZY8,Q9NZJ7,O14521,Q9Y487,Q9NZ01,O60313,O75381,P04062,O43681,P33897,Q15043,Q96N66,Q9P0J0,Q6DKK2,P40855,Q15041,O00400,P07196,Q15392,Q9NVI7,P21912,Q9Y320,Q6ZXV5,Q9Y287,O43505,O95169,P20700,Q9Y4W6,Q9Y4P3,Q9Y619,Q5KU26,Q8N183,P51812,Q12768,P03915,O75746,P35610,P11117,O00584,Q10713,Q53FT3,Q16625,P04066 81 |
| Spastic tetraparesis 0.4872446743625752 2.0259466921555616 0.0427702476988194 1.0 0.1441207845431489 26 P33897,Q9NZJ7,Q7RTS9,O14521,P07602,P21912,P17900 7 |
| Protrusio acetabuli 0.6511143951280978 2.0256631123255153 0.0427993192355935 1.0 0.1441207845431489 3 O75718 1 |
| Abnormal glycosylation 0.4761552804644961 2.023949303708889 0.0429753682365328 1.0 0.1446096442671836 27 O75787,Q8N511,P46977,Q2TAA5,Q9BT22,P51571,Q96MW5,Q9H3H5,Q8WTW3,Q9Y487 10 |
| Fasciculations 0.4275665014589314 2.0198854444202157 0.0433952714343883 1.0 0.1456213625391669 44 Q9BTW9,Q9NX46,P22626,Q8NBU5,Q8TD16,O43819,Q9NZJ7,P49768,P07602,Q9NWS8,Q969X5,P35637,Q13510,P07196,O95831,P06280,Q6UWE0,Q9NW15 18 |
| Progressive visual loss 0.4970009116139456 2.019761517597283 0.0434081305951343 1.0 0.1456213625391669 25 O14773,O75503,O60313,Q9NWW5,P50897,P03886 6 |
| Macroglossia 0.4468161973902687 2.0174565281438532 0.0436478932544035 1.0 0.1461377641198185 39 Q3T906,P10253,Q7LGA3,Q96A33,Q9Y4P3,O14521,Q10713,P21912,Q9H9S5 9 |
| Underdeveloped supraorbital ridges 0.567686194685017 2.016666811112601 0.0437302956517546 1.0 0.1463090748805849 17 P16435,O96011,Q6NUK1,Q13608,P56589,P40855,P50542,Q9Y5Y5,O75381,O43933 10 |
| Absent brainstem auditory responses 0.7251910977771685 2.014094461180924 0.0439996169455603 1.0 0.1470001467710446 4 O60313 1 |
| Contractures of the joints of the upper limbs 0.3728096405638075 2.0113603593793408 0.0442874072299321 1.0 0.1478561763827529 89 O43909,O75419,Q9BTV4,P07196,Q9Y619,P23786,Q8IZA0,Q15392,Q99720,Q9BUB7,O75844,Q8WVQ1,P02545,P50402,P35637,P37268,Q9NR77,P16435,Q02127,Q7LGA3,P42892,P50542,Q9Y2B2 23 |
| Macrovesicular hepatic steatosis 0.7193435602498834 2.0106750223740453 0.0443597939838875 1.0 0.1479923611257331 8 P23786,O75431,Q5XKP0 3 |
| Abnormal retinal vascular morphology 0.3973063091614272 2.009990127186734 0.0444322337925378 1.0 0.1481285288855851 57 P38435,P10619,P03915,Q9Y4P3,Q9NZJ7,P21964,O14521,P07602,Q96HR9,P21912,Q13510,P03886,P17900 13 |
| Abnormal nerve conduction velocity 0.4087056770936625 2.0034939321291243 0.0451242982458044 1.0 0.1500086678377203 50 O43681,Q99720,Q8TB36,Q9GZY8,Q9NZJ7,P07602,O15121,O15269,P07196,P50570,Q9Y619,Q9NR77 12 |
| Abnormal circulating copper concentration 0.766996963516291 2.0023455078811794 0.0452475847776012 1.0 0.1503118348214782 6 O43819,Q8NB90,P35670,Q9Y487 4 |
| Corpus callosum atrophy 0.5800735068582429 2.0020165323385823 0.0452829534918703 1.0 0.1503227173323323 16 Q9H9P8,P51970,P54886,O00754,Q8N766,O75503,Q8WVX9,P20700,O60313,P51572,Q9Y5Y5 11 |
| Cutaneous finger syndactyly 0.7223368230623962 2.00038257340443 0.0454589686820965 1.0 0.1508001482343768 4 Q9Y2U8,Q9Y619 2 |
| Spastic gait 0.472132748792131 1.999758251513816 0.0455263746766814 1.0 0.1509168711858285 29 Q12768,P33897,Q15043,P20700,Q9NVI7,O75298,Q15041,O00400,Q9Y619 9 |
| Abnormality of the alveolar ridges 0.6737258586091437 1.9994243232732984 0.0455624623780188 1.0 0.1509296844261954 10 O43924,Q3T906,Q15392 3 |
| Amelogenesis imperfecta 0.7660880236775325 1.998156597674355 0.0456996853180133 1.0 0.1512772622117135 6 Q6P4Q7,Q9HC07 2 |
| Glucose intolerance 0.3612978173811543 1.9951587349067303 0.0460255700547469 1.0 0.1520680384437208 114 O43676,O96000,Q9Y4P3,Q9NPL8,P03886,Q9NX14,Q8N183,P49589,Q96HR9,O75844,P12235,Q8IUX1,Q9Y5U9,Q06136,P03915,O75431,Q9Y6M9,P00403,O60313,O76024,Q86Y39 21 |
| Atrophy degeneration involving the corticospinal tracts 0.5645142677375533 1.9950582109218449 0.0460365314118143 1.0 0.1520680384437208 17 Q12768,P33897,Q9Y4P3,O75298,O00400 5 |
| Sensory ataxia 0.7905869480365938 1.99476575126372 0.0460684343620068 1.0 0.1520680384437208 5 Q9NR77 1 |
| Weakness due to upper motor neuron dysfunction 0.3390466777435112 1.993502976731756 0.0462063979096645 1.0 0.1523138314847691 158 Q7KZN9,Q9Y4W6,P07602,Q5XKP0,Q15041,P51572,Q9Y5Y5,O00400,Q9Y619,P03886,Q8N183,Q9H6K4,Q9NZJ7,Q7RTS9,O14521,P21912,Q13510,Q12768,Q9NZ08,P00403,O60313,P04062,Q13423,O43681,P33897,Q9UBX3,P20700,O75298,Q6DKK2,Q9P0J0,P17900 31 |
| Synostosis of metacarpals metatarsals 0.6450109556689503 1.9931917868631548 0.0462404501219773 1.0 0.1523138314847691 3 P16435 1 |
| Status epilepticus with prominent motor symptoms 0.7203494652252422 1.9908237907608843 0.0465002628710002 1.0 0.1530620037159278 4 Q13510 1 |
| Insidious onset 0.7892503185226942 1.9888490521043023 0.0467178666712002 1.0 0.1536702861572345 5 P04062,O60313,Q9NR77 3 |
| Generalized clonic seizure 0.7627398591858163 1.9827106903118463 0.047399754790433 1.0 0.1556556106306537 6 P07602 1 |
| Periventricular white matter hyperintensities 0.6526887966338528 1.9825247274605051 0.0474205426489593 1.0 0.1556556106306537 11 P07602,O75503,Q9NZJ7,P17900 4 |
| Fibrosarcoma 0.56906377204886 1.981925413328646 0.0474875891526886 1.0 0.1556556106306537 2 Q13126 1 |
| Sudden loss of visual acuity 0.5690637720488569 1.9819254133286264 0.0474875891526909 1.0 0.1556556106306537 2 O00170 1 |
| Delusions 0.5302348222257829 1.9811898282869016 0.0475699894931567 1.0 0.1558166648852769 21 P04062,O43681,Q9BQE5,Q9NZJ7,P07602,P21964 6 |
| Centrocecal scotoma 0.7873301463845233 1.9803429270280424 0.0476650083270682 1.0 0.1558930824569404 5 P03886,O60313 2 |
| Morphological abnormality of the corticospinal tract 0.546921803007921 1.9801404549366404 0.0476877484781415 1.0 0.1558930824569404 19 Q12768,P33897,Q9Y4P3,O75298,O00400 5 |
| Slurred speech 0.6198874646813793 1.9800922353022612 0.0476931654912031 1.0 0.1558930824569404 13 O75787,P33897,Q96RL7,Q9Y487,Q9NW15 5 |
| Mild short stature 0.7178777828958738 1.978922319555688 0.0478247528947812 1.0 0.1561053258251954 4 Q14739 1 |
| Abnormality of the dorsal column of the spinal cord 0.7177912728045811 1.9785054979700536 0.0478717089693063 1.0 0.1561497805099102 4 P33897,P54886 2 |
| Abnormal urine protein level 0.3880468616573556 1.9781894985683972 0.047907332969292 1.0 0.1561572356493834 67 Q9Y4P3,Q8NFH4,O95470,P09601,Q03252,P03905,P03886,Q8N1F7,P35670,O14521,Q14108,P21912,P06280,Q9Y5U9,P03915,O75431,Q5JRA6,P00403,P04062,O95721,Q86YH6 21 |
| Hyperkeratosis 0.3871561428815372 1.9756265118211669 0.0481970936572533 1.0 0.156888390957613 68 P04062,Q9NWM8,Q06136,O95721,P51648,Q07954,O75431,P16615,O14521,P42167,O15269,P02545,O75844,P21912,Q9Y2B2 15 |
| Hyperconvex nail 0.6864672311759112 1.9751126491609976 0.0482553656874156 1.0 0.1569639811665658 9 O95202,Q9Y619,P42892 3 |
| Atrophy degeneration affecting the central nervous system 0.2980178444253428 1.9740535162940196 0.0483756580831171 1.0 0.1572460669405418 344 Q8TD16,O96008,O43819,P07602,P50897,P03886,P08236,O75787,O14773,O43924,Q9UHX1,Q13510,Q96RL7,Q96MW5,P00403,P13073,P35637,O14678,Q9NX46,Q86Y39,Q01105,Q7LGA3,Q9H490,Q2TAA5,O75298,P16278,O95831,Q5BJH7,Q9Y2B2,P17900,Q8NB90,Q9H2C2,O75503,Q9H3H5,O15121,Q15165,Q9Y5Y5,Q99720,Q9NZJ7,Q9NZ01,O75845,O60313,O76024,P04062,P33897,Q96A33,Q15043,Q96N66,Q6DKK2,Q9BT22,P40855,O00400,P07196,Q9BUB7,Q9Y320,Q8WTW3,O95169,P20700,Q9NWW5,Q9Y4P3,P51572,Q9Y619,Q5KU26,P49589,Q9NWS8,P51812,P00374,Q12768,P03915,O75880,Q92581,Q5JRX3,Q10713,Q9UHJ6,Q9H9S5,Q16625,P04066 77 |
| Axial dystonia 0.7165358312297293 1.9724545405147424 0.0485577409308124 1.0 0.1577284733147888 4 Q99720 1 |
| Gait ataxia 0.3766523309937883 1.9702919155255327 0.0488049244475152 1.0 0.1582939556601083 80 Q8IV08,Q9Y4W6,P48444,Q15907,P07602,P07196,Q9UBB4,Q03252,P03905,P03886,O14773,Q13217,Q9NZJ7,Q9NVI7,Q14108,P12235,P41440,P03915,O00754,Q6PJG6,Q9NW15,Q9NR77,O43681,O43292,Q92581,P20700,Q10713,Q9UID3 28 |
| Lacticaciduria 0.735912699113793 1.969270058059836 0.0489220876082678 1.0 0.1584054351303246 7 O14521,P03886,O96000 3 |
| Emg neuropathic changes 0.467746870381854 1.96820179028466 0.0490448243718402 1.0 0.1586505230370853 30 O43681,Q96RL7,O14773,Q8TB36,O43819,Q9NZJ7,P07602,O60313,Q13510,Q9NR77 10 |
| Proximal muscle weakness in upper limbs 0.5885934210532769 1.9666357277922464 0.0492252214544148 1.0 0.1591241803260726 15 Q9BTV4,P02545,P50402,P07196,P50570,O95140 6 |
| Coxa valga 0.4902184989721921 1.9637677305953627 0.0495570339159332 1.0 0.1600863081808491 25 O43909,P48444,Q96A33,Q96MW5,Q8WVQ1,Q8WTW3,P02545,O75844,Q93063,P16278,Q9Y619,P51812,P04066 13 |
| Beaking of vertebral bodies 0.6169458495329773 1.9623904682078952 0.0497170416462113 1.0 0.1604925038393205 13 Q3T906,Q7RTS9,Q6NUQ1,Q96DX4,P16278,P08236,P04066 7 |
| Urinary urgency 0.6303683951988844 1.9606507070614336 0.0499197829111714 1.0 0.1609251639063505 12 P04062,Q12768,P33897,P20700,O75298 5 |
| Personality changes 0.5092024863974088 1.9593575024668948 0.0500709339204765 1.0 0.1611697628053954 23 P04062,Q96RL7,P35670,P03915,P49768,P00403,P20700,P03886 8 |
| Slowly progressive 0.387216867272339 1.9591187246284352 0.0500988844245635 1.0 0.1611697628053954 66 P05023,Q8IV08,Q9Y4W6,Q9BTV4,Q13586,Q9H3H5,O14979,P38935,P07196,O75787,Q99720,O14773,P12235,P50570,P41440,P02545,P50402,O95140,Q9NR77,Q9P0J0,O00584,Q5JTV8,O95831,Q6UWE0 24 |
| Atrophy degeneration affecting the cerebrum 0.3143028987295495 1.9577154106352217 0.0502634159228745 1.0 0.1615340347632114 274 Q8TD16,Q9H2C2,Q9BT22,P04066,O96008,O75503,Q9H3H5,Q9Y4P3,P07602,P40855,P51572,Q9Y5Y5,P50897,O00400,Q9Y619,P03886,Q5KU26,O75787,O14773,O43924,P49589,Q9NZJ7,Q9NWS8,Q9BUB7,Q9UHX1,Q9NZ01,P51812,P00374,Q96RL7,P03915,Q9Y320,Q8WTW3,O75845,P00403,O60313,P13073,Q16625,O14678,O76024,Q9NX46,P04062,Q96N66,Q01105,Q7LGA3,Q9H490,Q2TAA5,Q96A33,Q15043,Q92581,P20700,Q5JRX3,Q10713,Q9NWW5,Q9H9S5,Q6DKK2,P16278,O95831,Q5BJH7,Q9Y2B2,Q9UHJ6,P17900,Q8NB90 62 |
| Hypoparathyroidism 0.5587845503994666 1.9559043302638823 0.0504764251396225 1.0 0.1617179037989002 17 P35670,P21964,P00403,P03886,P40939 5 |
| Coxa vara 0.5585283913463984 1.9541502669194977 0.0506834488700727 1.0 0.1622701807979634 17 Q8WVQ1,Q7RTS9,Q96DX4,Q93063,Q9Y487,P50542,O95831,Q96HY6 8 |
| Narrow vertebral interpedicular distance 0.7125937627592869 1.953430259685168 0.050768633564205 1.0 0.1623044713410466 4 Q3T906 1 |
| Abnormal pupillary light reflex 0.7808045441886262 1.951379778628432 0.0510118851321763 1.0 0.1627654427514401 5 P07602,Q9NR77 2 |
| Slow pupillary light response 0.7808045441886262 1.951379778628432 0.0510118851321763 1.0 0.1627654427514401 5 P07602,Q9NR77 2 |
| Patellar aplasia 0.7119989298543294 1.9505564178653347 0.0511098358940291 1.0 0.1628561029439678 4 Q9Y619 1 |
| Malrotation of small bowel 0.7117501547637246 1.9493542518483276 0.0512531338592077 1.0 0.1632016852457708 4 O95202 1 |
| Abnormal pelvis bone morphology 0.7551455562683617 1.947585399488717 0.0514645921795315 1.0 0.1635408041128763 6 P16435,Q96DX4,Q7RTS9 3 |
| Abnormal reflex 0.3034405773771744 1.9471721160464577 0.0515141034491419 1.0 0.1635408041128763 409 O14949,O43909,Q9BTV4,Q8TD16,P20674,O43819,P07602,Q86XL3,P03886,O75787,O14773,Q9H6K4,Q96IX5,Q7RTS9,P50416,Q13510,Q96CU9,Q96RL7,P13073,Q8NI60,P35637,Q9NR77,Q9NX46,Q2TAA5,O43292,O75298,P50542,P39210,O95831,Q9Y2B2,P17900,Q8WWI5,Q7KZN9,Q9H2C2,O75503,Q9H3H5,O15121,Q5XKP0,Q9Y5Y5,Q99720,Q9GZY8,Q9NZJ7,P54802,O14521,Q96HR9,P50570,Q9NZ08,O60313,Q9NW15,O75381,P04062,O43681,P33897,Q15043,Q96N66,Q9P0J0,Q6DKK2,Q9HC21,Q9BT22,P40855,Q15041,O00400,P07196,P12235,P21912,P10253,Q9Y320,O15269,P50402,Q14739,P40939,Q8TB36,O43505,P20700,O14653,Q9Y4W6,Q13586,Q9Y4P3,Q9Y619,Q5KU26,O75027,Q8N183,P49589,Q9NWS8,P51812,Q12768,Q9Y5U9,P03915,O75746,P02545,P35610,O95721,Q5JRX3,Q10713,Q9Y6B6,Q9H9S5,Q53FT3,Q16625 98 |
| Hallucinations 0.3957944330395141 1.9470043990908417 0.0515342072738269 1.0 0.1635408041128763 55 P04062,O43681,Q9BQE5,O75503,Q9NZJ7,P07602,O60313,Q9NWW5,P50897,P21964,Q6DKK2,O76024 12 |
| Death in infancy 0.38354462525091 1.9461822687336623 0.05163284905243 1.0 0.1637429011249711 70 Q9BT22,Q6NUK1,P20674,O43819,P07602,P40855,Q9Y5Y5,Q15067,Q13277,Q9NZJ7,Q9NWS8,Q9BUB7,P50570,Q15904,Q12768,P02545,O75381,P04062,P50542,P16278,O75718,Q9HC21 22 |
| Wide anterior fontanel 0.4659206197324343 1.9444072516217172 0.0518463600843874 1.0 0.1641976677723265 29 P16435,Q6NUK1,P20674,Q32P28,P40855,Q9Y487,P50542,Q9Y5Y5,O75718,Q15125,O75381 11 |
| Abnormal saccadic eye movements 0.4640263697946299 1.9435118509077185 0.0519543449101362 1.0 0.164428480783161 31 P04062,Q5HYK3,Q8IV08,Q9Y4W6,Q96RL7,O14773,O43819,O95169,P51798,Q10713,Q9NW15,Q8WWI5 12 |
| Abnormality of the clitoris 0.4667971658681253 1.942067334950733 0.0521289492944905 1.0 0.1647630082328232 27 P16435,O75419,Q9NX14,P53701,O96011,Q13608,P56589,Q9UBM7,P40855,P50542,Q9Y5Y5,Q9Y619,Q9NP72,O75381,Q08AM6 15 |
| Leg muscle stiffness 0.7787077764649444 1.9420553772707423 0.0521303967124346 1.0 0.1647630082328232 5 Q9NW15 1 |
| Impaired distal vibration sensation 0.7056117982074122 1.9417157001641472 0.0521715269853571 1.0 0.1647818155087071 8 P20700,P33897,Q6UWE0,P54886 4 |
| Abnormal brainstem morphology 0.3643832512444943 1.9389265921874363 0.0525102773912702 1.0 0.1657399860516912 99 Q96S52,O43676,O96000,O43819,O15121,Q9NPL8,P03886,Q5KU26,Q9BTW9,Q9NX14,Q8N183,Q8IUX1,Q96CU9,Q9Y320,Q9Y6M9,Q96MW5,Q6ZXV5,O60313,Q96DA6,Q86Y39,P33897,Q96EK5,O43505,O95169,P20700,Q10713,Q9UID3,Q9H9S5,O95831 29 |
| Xanthelasma 0.5617367706920081 1.938059408831429 0.052615974930823 1.0 0.1658500851789873 2 P01130 1 |
| Tendon xanthomatosis 0.5617367706920081 1.938059408831429 0.052615974930823 1.0 0.1658500851789873 2 P01130 1 |
| Kinetic tremor 0.4488269500044795 1.936615481605916 0.0527923640781433 1.0 0.1660000110483535 36 O43681,Q9Y4W6,Q9NZJ7,Q9Y287,P20700,P07602,Q14108,Q9BUB7,Q9NW15 9 |
| Status epilepticus 0.3912924947285128 1.9365097617627467 0.0528052981345104 1.0 0.1660000110483535 57 P05023,P51970,Q9H2C2,P07602,Q9UBB4,Q03252,Q15392,Q9NX14,P49589,Q9NZJ7,Q9Y487,Q13510,Q96MW5,P53701,Q86YH6,Q01105,O43292,P42892,Q9UID3,P50542 20 |
| Hypersplenism 0.678837663112755 1.9349381125022256 0.0529978905619545 1.0 0.1661987102865406 9 P07602,Q14108,Q9NZJ7 3 |
| Motor deterioration 0.7287908641917866 1.9349195858552184 0.0530001643425261 1.0 0.1661987102865406 7 O14521,O75503,P21912 3 |
| Abnormal mitochondrial number 0.6340933767643862 1.9348359169448293 0.0530104340666293 1.0 0.1661987102865406 3 Q9BQP7,P46976 2 |
| Progressive 0.3518213809824743 1.9343660919335788 0.0530681324097841 1.0 0.166268315857812 124 Q9Y4W6,Q13586,O15121,Q5XKP0,O95470,Q9Y5Y5,O00400,Q99720,Q8N183,Q9GZY8,P54802,P12235,Q13510,Q12768,P27544,Q9Y6M9,O60313,Q9NR28,P04062,P33897,Q15043,P20700,O75298,O14653,P15586 25 |
| Abnormal circulating citrulline concentration 0.7517963102334645 1.9320545722967328 0.0533527705247391 1.0 0.1669933082971174 6 P03886,Q9Y619,Q9UJS0 3 |
| Segmental peripheral demyelination remyelination 0.7281079633880917 1.931619517761076 0.0534064850190183 1.0 0.1669933082971174 7 P07196,P50570,P03886,Q9NR77 4 |
| Skeletal muscle hypertrophy 0.4007607559828464 1.9287314007382457 0.0537642158956499 1.0 0.1678877248368162 51 Q3T906,P10253,Q7LGA3,Q96A33,Q9Y4P3,O14521,Q10713,P02545,P21912,Q9H9S5,P50570,Q9NR77 12 |
| Saccadic smooth pursuit 0.7502610607491166 1.9249273467323955 0.0542384481481659 1.0 0.168805907724923 6 O14773,Q9NW15 2 |
| Abnormality of lower limb epiphysis morphology 0.5309019884254892 1.9232377042179587 0.0544502041002139 1.0 0.169352427626429 20 O43909,Q7LGA3,Q8WVQ1,Q7RTS9,Q6NUQ1,Q96DX4,P50542,O95831 8 |
| Nemaline bodies 0.7056782571795391 1.9199675528218356 0.0548619980397433 1.0 0.1704136018841934 4 O43676 1 |
| Delayed cranial suture closure 0.4614394929738676 1.9199504616093024 0.0548641570540913 1.0 0.1704136018841934 31 P16435,Q8NCH0,O75431,Q32P28,P40855,O75844,Q9Y487,P02545,P51812,O75381 10 |
| Unexplained fevers 0.7489729210774577 1.918943383857837 0.0549914993388882 1.0 0.1706959462580202 6 P07602,Q9NZJ7 2 |
| Ascending tubular aorta aneurysm 0.7488845769302954 1.918532856518322 0.0550434800758263 1.0 0.1707441461424972 6 P02545,O75844 2 |
| Elevated circulating long chain fatty acid concentration 0.7731719163904791 1.9173951087100756 0.0551877551699557 1.0 0.1710720324048374 5 P23786,P33897,P40855 3 |
| Clonic seizure 0.7250884852558581 1.9170150545284612 0.0552360191161693 1.0 0.1710720324048374 7 P07602 1 |
| Progressive psychomotor deterioration 0.6582659052388421 1.9152642385999117 0.0554588137937868 1.0 0.1715779945905531 10 O43681,Q9NZJ7,O14521,P07602,Q10713,P21912 6 |
| Abnormal sella turcica morphology 0.657585412466438 1.911543431698361 0.0559347809712766 1.0 0.1728222388320976 10 Q3T906,P08236,O75431,Q7RTS9 4 |
| Heterogeneous 0.395684564202131 1.9054646213988755 0.0567197020589265 1.0 0.1745938735813587 53 Q9BQE5,P07196,Q9Y619,P03905,P03886,Q15738,P61916,P05067,P06753,P49768,P12235,O75844,P35232,P50570,O75330,P03915,P51798,P02545,P21964,Q9NR77,P40939,Q8TB36 22 |
| Premature rupture of membranes 0.74605415469867 1.905371273988245 0.0567318265565388 1.0 0.1745938735813587 6 O75844,Q9Y487 2 |
| Abducens palsy 0.7025363319363891 1.904727373405456 0.0568155188223513 1.0 0.1747366317556755 4 P07602 1 |
| Neoplasm of the heart 0.5560379918589011 1.9038067923708824 0.0569353515948809 1.0 0.1749384540963129 2 P10644 1 |
| 3 methylglutaconic aciduria 0.6072218348755578 1.9036495772184017 0.0569558374246108 1.0 0.1749384540963129 13 Q53H12,Q9H6K4,Q9NVI7,Q9BUB7,Q5XKP0,Q3ZCQ8,Q96DA6 7 |
| Advanced ossification of carpal bones 0.628154589993323 1.9029474305866845 0.057047405103884 1.0 0.1749902066185939 3 Q8WVQ1 1 |
| Abnormal metacarpal morphology 0.4482609676758004 1.9003383806213845 0.0573887276643403 1.0 0.1754888817567156 35 O43909,P16435,P51812,Q96S52,Q15233,O43924,Q32P28,Q8WVQ1,Q7RTS9,Q96DX4,Q93063,P16278,Q96L58,Q14739,P08236 15 |
| Aplasia hypoplasia involving bones of the thorax 0.4204240426173325 1.8998885434524624 0.0574477478051613 1.0 0.1754888817567156 43 Q12768,P16435,Q3T906,O75419,O75431,Q9Y2B2,Q7RTS9,P02545,O75844,Q9UHX1,Q9Y619,Q14739,Q7Z4L5,Q96HY6 14 |
| Generalized lipodystrophy 0.7013880679520057 1.8991518827123863 0.057544509156066 1.0 0.1755951015550574 4 O75431,O75844 2 |
| Mild postnatal growth retardation 0.6273072747014112 1.8983895193103668 0.0576447892259801 1.0 0.1756722138806057 3 P17706,Q9Y3E5 2 |
| Retinal dysplasia 0.6716020089701196 1.8966879074513707 0.0578691406343376 1.0 0.1762412579526903 9 Q9NX14,P53701,O43924,O43505,Q10713 5 |
| Increased serum pyruvate 0.4446362629171211 1.8959262232357303 0.057969800837706 1.0 0.1764331040440645 36 Q9NX14,Q86Y39,Q8N183,P22695,O43676,Q9Y6M9,O96000,Q5JRX3,Q9NPL8,Q70HW3,Q8IUX1,P21912,P03886,Q96CU9 14 |
| Abnormal greater sciatic notch morphology 0.719668846366887 1.8907484621166728 0.0586579299017695 1.0 0.1780646426830126 7 O43909,Q96HY6,Q7RTS9 3 |
| Rhizomelia 0.591136380834374 1.8902804133290527 0.0587204669272338 1.0 0.1781390330875411 14 Q15392,P48444,Q8WTW3,O15228,Q7RTS9,Q9UBM7,Q14739,Q15125 8 |
| Severe postnatal growth retardation 0.6048279791748945 1.8891362749946925 0.0588735708708649 1.0 0.1783126348841223 13 O95202,Q3T906,O76024 3 |
| Abnormal tendon morphology 0.3153769415365414 1.8876469150604755 0.0590733673429304 1.0 0.1786311508291066 252 O43909,Q8NCH0,Q9BTV4,Q8TD16,Q9BT22,Q13586,P04066,Q9H3H5,O15228,O15121,Q86XL3,Q15041,P50897,P07196,Q9Y619,P23786,Q3T906,Q8IZA0,Q15392,Q99720,P49589,Q7RTS9,O14521,Q9BUB7,O75844,P21912,Q13510,P50570,O75431,Q8WTW3,Q8WVQ1,O60313,P02545,P50402,P37268,Q9NR77,P04062,P16435,Q02127,P33897,Q7LGA3,Q8TB36,Q96A33,Q15043,P42892,Q92581,P20700,Q9UHJ6,Q9H9S5,Q53FT3,Q9Y2B2,P15586,Q9HC21 53 |
| Type ii transferrin isoform profile 0.7659858848150267 1.88529353519914 0.0593902184898162 1.0 0.1794734086492255 5 O75787,Q96MW5,Q8WTW3 3 |
| Abnormal form of the vertebral bodies 0.3622926767603878 1.876908206993188 0.0605306758527406 1.0 0.1823316306715351 93 O43909,Q6NUK1,Q9Y4P3,O15228,Q6NUQ1,Q9Y619,P08236,O95202,Q3T906,Q7RTS9,P54802,Q96DX4,Q9UHX1,Q15125,P51812,Q12768,Q32P28,Q8WTW3,Q8WVQ1,O75845,P51798,Q14739,P16435,Q9UBM7,Q10713,P16278,O95831,P15586,Q96HY6,P04066 30 |
| Aplasia hypoplasia involving the vertebral column 0.5400312266756513 1.876574863595051 0.0605763851833596 1.0 0.1823520489709874 18 O43909,Q3T906,Q7RTS9,Q6NUQ1,P16278,Q14739,P08236,Q96HY6,P04066 9 |
| Flat face 0.4486535057335984 1.875551199938719 0.0607169327239618 1.0 0.1825405089082395 34 Q3T906,Q9NX62,Q9UM00,O96011,Q15555,O00754,Q13555,Q13608,P56589,Q9BUB7,P40855,Q9Y487,P50542,Q9Y5Y5,Q96L58,Q15125,P08236,O75381 18 |
| Hand polydactyly 0.4325692865090103 1.8740214183104489 0.0609274730732249 1.0 0.1830559870910749 39 O43909,O95202,Q12768,Q96J42,O43924,O75845,P21964,Q14739,Q10713,Q9UBM7,Q9UHX1,Q15125,Q7Z4L5 13 |
| Abnormal abdomen morphology 0.3139616429622436 1.871676810964064 0.0612513295816834 1.0 0.1837932272649617 256 O43909,P10619,Q9BT22,O43676,P20674,O96000,Q9H3H5,P04066,Q6NUQ1,P07602,P14927,Q9NPL8,P40855,P09601,Q9Y5Y5,O43772,P03886,P08236,Q15067,Q9Y619,O43683,P23786,O75787,Q3T906,Q15392,P35670,Q9UJS0,Q9NX14,Q8N183,Q9NZJ7,P50416,P54802,O14521,Q14108,Q9NVI7,Q9BUB7,Q9NWS8,Q8IUX1,Q13510,Q96CU9,P00374,P10253,Q96RL7,Q9HC07,Q9NZ08,P03915,O75431,Q9Y6M9,Q8WTW3,P14174,O75845,P51798,O75880,P02545,P35610,P15586,P21964,Q14739,O75381,P40939,P04062,Q86Y39,Q96A33,Q10713,Q96I36,P50542,P39210,P16278,Q16625,Q01844,Q96HY6,Q9HC21 72 |
| Short sternum 0.6221498371335503 1.8706025088392189 0.0614001966126309 1.0 0.1841219724286577 3 P98175,Q6KC79 2 |
| Recurrent aspiration pneumonia 0.7383782947855291 1.869592204550817 0.0615404686318572 1.0 0.1844245393932305 6 P04062,Q6NUK1,Q13510 3 |
| Alternating esotropia 0.6217052042844795 1.8682034212823595 0.0617337220986011 1.0 0.1848853927812326 3 P20700 1 |
| Lower limb amyotrophy 0.49724211120719 1.864981402749706 0.0621840110186227 1.0 0.1860847470399548 23 Q8TD16,Q9NVI7,P02545,Q9H0B6,O75298,O00400,P07196,O95140,Q9NR77 9 |
| Abnormal macular morphology 0.450312049272097 1.8647700351649068 0.0622136451461505 1.0 0.1860847470399548 33 P04062,P51648,Q96HR9,Q13510,P50897,Q9NW15 6 |
| Abnormality of limb epiphysis morphology 0.4413140162373951 1.8635613570511955 0.0623833285720063 1.0 0.1864444818283641 36 O43909,O95202,P16435,Q7LGA3,Q8WVQ1,O15228,Q7RTS9,Q6NUQ1,Q96DX4,P50542,O95831,Q96L58,P51812 13 |
| Abnormal intraocular pressure 0.7137751981267721 1.862107730186391 0.0625879066280623 1.0 0.1867272322584993 7 Q15043,Q8NCH0,P29992,P04439 4 |
| Abnormal visual fixation 0.7366153916652123 1.8613572693338123 0.0626937406718735 1.0 0.186923921901372 6 P04062,Q13510 2 |
| Abnormality of cardiovascular system electrophysiology 0.3413971465892598 1.8565564883746537 0.0633742792765665 1.0 0.1887127298991976 133 Q9BTV4,P51970,O43819,O15460,Q9H3H5,Q9Y4P3,P07602,P40855,Q9Y5Y5,O43772,P03886,P23786,Q9NX14,Q9NZJ7,P50416,P13473,O14521,Q9BUB7,P12235,P21912,P06280,P10253,P29992,P03915,P47985,Q6PJG6,P00403,O75880,P02545,P50402,Q9HD47,Q96DA6,O75381,P40939,P04062,P53701,Q9H490,Q07954,Q8TB36,P42892,O95169,P50542 42 |
| Abnormality of the temporomandibular joint 0.7593928342240187 1.8557521230755492 0.0634888976167589 1.0 0.1888139659916817 5 P02545,O75844 2 |
| Abnormality of the ribs 0.37450465150288 1.8553036101118296 0.0635528829840841 1.0 0.1888843298841688 73 O75419,Q9Y619,O95202,Q3T906,P54802,Q7RTS9,O75844,Q9UHX1,P50570,Q7Z4L5,Q12768,O75431,Q32P28,Q8WTW3,P51798,P02545,Q14739,P16435,Q9UBM7,Q93063,P16278,O95831,O75718,P15586,Q96HY6 25 |
| Bilateral cleft lip and palate 0.547896879240175 1.8546735706598176 0.0636428550993697 1.0 0.1890317902888064 2 O15111 1 |
| Limb myoclonus 0.7585897958435548 1.8521482047575777 0.064004544045672 1.0 0.1898891160176008 5 Q13510 1 |
| Hypothermia 0.5850450817828677 1.8520922461628968 0.0640125777523039 1.0 0.1898891160176008 14 P03915,P20700,Q5XKP0,O43772,P03886 5 |
| Primary hypercortisolism 0.5473541383989289 1.8513897277473603 0.0641135058108148 1.0 0.1900192532921306 2 P10644 1 |
| Abnormality of the wrist 0.4196779760734668 1.8512222703053964 0.0641375831457853 1.0 0.1900192532921306 42 O43909,P16435,Q3T906,Q9H6K4,Q8WVQ1,Q7RTS9,Q96DX4,P02545,O75844,Q93063,Q13510,P16278,O95831,Q15125 14 |
| Loss of speech 0.4862348507913062 1.8508873119355864 0.0641857664701526 1.0 0.1900418016094784 24 O43681,Q9NZJ7,P07602,P50897,P17900 5 |
| Abnormality of the fetal cardiovascular system 0.7342528087206077 1.8503108532243489 0.064268759275057 1.0 0.1901673205586653 6 P16435,Q9Y2B2,Q12768 3 |
| Respiratory insufficiency 0.323068243717614 1.849436551403433 0.0643948016319324 1.0 0.1902998428037675 206 O75419,Q9BTV4,Q8TD16,Q9BT22,Q13586,O43676,Q6NUK1,O96000,O43819,Q9H3H5,P07602,Q15165,Q5XKP0,Q9NPL8,Q92804,P40855,Q9Y5Y5,O43772,P03886,Q96L58,Q15067,Q9Y619,P61916,P23786,Q3T906,Q9NX14,Q8N183,Q9NZJ7,Q7RTS9,P13473,Q9BUB7,P12235,Q8IUX1,Q13510,P50570,P06280,Q7Z4L5,Q96CU9,Q53H12,P10253,Q9Y6M9,Q8WVQ1,Q9UGP8,Q70HW3,P02545,P50402,P35637,Q14739,O75381,Q9NR77,O95140,O76024,P40939,Q86Y39,P53701,O95169,Q96I36,P50542,Q9UHJ6,Q9H9S5,O95831 61 |
| Brittle hair 0.5567901682790781 1.84725522688663 0.0647101586574252 1.0 0.1911112125796846 16 Q9NVI7,Q6NUK1,O75844,Q9Y487 4 |
| Limited elbow movement 0.4191804578586493 1.845960520621299 0.0648979380109766 1.0 0.191545016788541 42 O43909,P23786,P16435,Q7LGA3,Q9H6K4,Q7RTS9,Q96DX4,P02545,P50402,P37268 10 |
| Hypomethioninemia 0.5459972862958081 1.8431756296763449 0.0653033718597806 1.0 0.1924990521027139 2 Q99707 1 |
| Tetraplegia tetraparesis 0.3945518079088584 1.839595735631512 0.065827610913854 1.0 0.1938004585295363 50 Q13423,O43681,P33897,Q9NZJ7,Q9UBX3,Q7RTS9,O14521,P07602,P20700,P21912,P17900 11 |
| Abnormality of bone mineral density 0.3302653582936957 1.8379525968977743 0.0660693906793121 1.0 0.1940244676751712 158 Q9H3H5,Q9Y4P3,O15228,P07602,Q96L58,O95202,Q3T906,Q15392,Q13277,P35670,Q9NZJ7,P54802,Q14108,Q96DX4,O75844,Q9Y487,Q13510,P12235,P06280,Q15125,Q9NWM8,Q9Y5U9,P29992,Q9HC07,O75431,Q32P28,Q8WTW3,Q8WVQ1,O75845,P51798,P02545,Q14739,P04062,Q9H490,O43292,Q15043,Q9NVV0,Q93063,P16278,O95831,O75718,Q96HY6,Q9HC21 43 |
| Abnormal liver morphology 0.3077090708592958 1.83192998631504 0.0669618523339756 1.0 0.1959083799702323 278 O43909,Q7KZN9,Q9HC21,Q8N511,Q96J42,Q9BT22,P10619,O43676,P20674,O96000,Q9H3H5,Q6NUQ1,P07602,Q9NPL8,Q5XKP0,P40855,P09601,Q9Y5Y5,Q03252,O43772,P03886,P08236,Q9Y619,P23786,O75787,Q3T906,Q9UJS0,P35670,Q9NX14,Q8N183,Q9NZJ7,P50416,P54802,O14521,Q14108,Q9NVI7,Q9BUB7,Q9NWS8,Q8IUX1,Q13510,Q7Z4L5,Q96CU9,P00374,P10253,Q96RL7,Q9HC07,P03915,O75431,Q9Y6M9,Q96MW5,Q8WTW3,P14174,O75845,P51798,O75880,P02545,P35610,Q14739,O75381,P40939,P04062,Q86Y39,Q96A33,Q10713,Q9Y6B6,Q96I36,P50542,P39210,P16278,Q9UHJ6,Q16625,P15586,Q96HY6,P04066 74 |
| Agammaglobulinemia 0.6145494028230183 1.8295172421452064 0.0673221587338677 1.0 0.1966741156256163 3 O14920,Q8IWT6 2 |
| Temporal cortical atrophy 0.7297732256403134 1.829334270504742 0.0673495477078327 1.0 0.1966741156256163 6 O43924,Q8WTW3 2 |
| Shallow orbits 0.6252284638208053 1.8268941898096245 0.0677156800280174 1.0 0.1976200904992109 11 Q3T906,O75844,P02545,O75431 4 |
| Lower limb hyperreflexia 0.4736323342079884 1.825541914529267 0.0679192920813254 1.0 0.1978445050428658 25 O14521,P13073,Q15041,P21912,Q14739,O00400 6 |
| Mitochondrial inheritance 0.7281726538706248 1.8218291660805748 0.0684809108158341 1.0 0.1991089920927171 6 P03915,P00403,P03886,P03905 4 |
| Generalized joint laxity 0.6062852170999883 1.8188419299154204 0.0689355493320622 1.0 0.1995637287214954 12 Q9Y487,Q9UHX1 2 |
| Endocarditis 0.7508957882924303 1.817555976565712 0.0691320254168708 1.0 0.2000088987354063 5 Q9NZ08 1 |
| Abnormality of the shoulder girdle musculature 0.4200759634669228 1.8169973926027232 0.0692175125903522 1.0 0.20013261047729 41 Q9BTV4,Q9H3H5,Q9NZJ7,P07602,P02545,Q9Y487,P12235,O60313,P07196,P50402,Q9H9S5 11 |
| Hypoplasia of the odontoid process 0.6808539323353813 1.816176389195077 0.0693433187121355 1.0 0.2003726741811491 8 O43909,Q3T906,Q7RTS9,P16278,P08236 5 |
| Dysphagia 0.3289352734405487 1.8154939062226605 0.0694480415926472 1.0 0.2005515578421454 160 Q9Y4W6,O43819,P07602,Q9Y5Y5,Q9UBB4,P03886,Q15067,P61916,Q8IZA0,Q99720,P35670,Q8N183,P05067,Q15233,Q9GZY8,Q9NZJ7,O14521,Q14108,P12235,Q9UHX1,Q13510,P21912,Q96RL7,P03915,O60313,P35637,Q14739,Q9NR77,O76024,P04062,P33897,Q01105,O95169,P20700,Q92581,Q93063,P15586,Q8WWI5 38 |
| Degeneration of the lateral corticospinal tracts 0.6399547637000744 1.814670565759489 0.0695745510100285 1.0 0.2007930973080552 10 Q12768,O75298,O00400 3 |
| Progressive external ophthalmoplegia 0.5506044349134684 1.8057461465727316 0.0709580009074692 1.0 0.2040314771335704 16 P00403,P03886,O60313,P12235 4 |
| Muscle hypertrophy of the lower extremities 0.6544497524492687 1.805443413419708 0.0710053228521951 1.0 0.2040422897175964 9 P50570,P02545,Q9NR77 3 |
| Hemoglobinuria 0.6099348534201953 1.8044948076189296 0.0711537724238222 1.0 0.2043435132024423 3 Q969N2,P11413 2 |
| Axonal degeneration 0.6782613237429945 1.8029424772484053 0.0713972490504661 1.0 0.204917104505137 8 P33897,Q8TB36,P50570,Q6UWE0,Q6DKK2 5 |
| Abnormality of the plantar skin of foot 0.3951420525787175 1.8025727864515888 0.0714553340875003 1.0 0.2049582271070739 47 Q06136,O75431,P16615,O14521,P42167,P02545,Q9Y487,P21912,Q9Y2B2 9 |
| Upper airway obstruction 0.7471701831044457 1.800765278003121 0.0717398837873994 1.0 0.2056484795961929 5 P16435,O75844,Q96HY6 3 |
| Severely reduced visual acuity 0.6809604338213205 1.799459388634271 0.0719460424742171 1.0 0.2060109071825666 4 Q13277 1 |
| Myokymia 0.6800192675702591 1.7948436322570736 0.0726786168553061 1.0 0.2078306723750025 4 O15020,P33897 2 |
| Retinal dystrophy 0.3732879398265065 1.794373523055168 0.0727535700393962 1.0 0.2079180732547478 68 Q6P4Q7,Q9NX14,P53701,P38435,P03915,Q9H2C2,Q9H3H5,Q9Y287,O43505,Q10713,P40855,Q96HR9,Q9H9S5,Q9Y5Y5,P03886,O75381 16 |
| Visual field defect 0.3892553140120921 1.7937350312415643 0.0728554710812507 1.0 0.2080823332588894 51 Q8WWV3,Q9H6K4,P00403,P40855,O60313,Q9Y5Y5,P03886,Q9H061,O75381 9 |
| Fractures of the long bones 0.6794782172067166 1.7921892782087891 0.0731026515454527 1.0 0.2085851489009365 4 P51798,Q9BTW9 2 |
| Aspiration pneumonia 0.4497929655801935 1.791617935469078 0.0731941881263473 1.0 0.2086680323699398 27 P04062,O95721,P78318,Q6NUK1,O14521,P20700,Q13510 7 |
| Thoracic scoliosis 0.5887508302384689 1.7911376256735565 0.0732712125679795 1.0 0.2086746313350435 13 O75477,P02545,O75844,P50542,Q9UHX1 5 |
| Lactose intolerance 0.6072980471519507 1.7901707039230117 0.073426473189913 1.0 0.2089487244359371 3 Q14566 1 |
| Night sweats 0.6064811172365858 1.7857290370119938 0.0741431414808373 1.0 0.2103491669874271 3 O14521 1 |
| Poor motor coordination 0.5599988867522839 1.781529366434623 0.0748260118552499 1.0 0.2120125336140526 15 Q96RL7,P35670,O75503,Q10713,Q9H9S5 5 |
| Progressive spastic quadriplegia 0.633905754981271 1.7812282949757812 0.0748751630437649 1.0 0.2120125336140526 10 P07602,Q9NZJ7,P17900 3 |
| Abnormal skin morphology of the palm 0.3489495561713278 1.7810119919529113 0.0749104917018055 1.0 0.2120125336140526 111 Q8NCH0,Q6NUK1,Q9H3H5,P40855,Q9Y5Y5,O95202,O14521,Q9Y487,Q9UHX1,P21912,P51812,Q06136,O75431,P42167,P02545,Q14739,O75381,O95721,P16615,Q96I36,Q9Y2B2 21 |
| Calcinosis 0.742522125842571 1.7797807735017803 0.0751118453313743 1.0 0.2124540359493705 5 Q14739,O75844 2 |
| Abnormal endocrine physiology 0.7412394809277588 1.7739829728651917 0.076065966807961 1.0 0.2147454576938237 5 Q13423 1 |
| Hypopigmentation of the skin 0.3755783435611426 1.7739704336244704 0.0760680410067646 1.0 0.2147454576938237 60 Q8IZA0,Q9NX14,Q9Y2Q5,Q9NZJ7,P21964,O14521,P07602,P51798,P02545,P21912,Q15125,Q9NP58 12 |
| Focal segmental glomerulosclerosis 0.4674720706712429 1.7737449351439487 0.0761053500793653 1.0 0.2147454576938237 25 P03915,O75431,P00403,Q14108,Q8NFH4,O95470,P03886,Q8N1F7 8 |
| Hyperlipidemia 0.4406015226578318 1.773240560165832 0.076188853734314 1.0 0.2148516501454106 33 P23786,Q9UJS0,Q8NI22,Q9BTV4,P28070,O75431,P31751,P50416,P22830,P02545,O75844,O95470,P50402,P06280 14 |
| Concentric hypertrophic cardiomyopathy 0.7408096899312429 1.7720395556885562 0.0763879913135214 1.0 0.2151541499173389 5 P00403,P03886 2 |
| Abnormal protein glycosylation 0.4939817862485253 1.7703445479487676 0.0766697612322908 1.0 0.2158180057764726 22 O75787,Q8N511,Q2TAA5,Q9BT22,P51571,Q96MW5,Q9H3H5,Q8WTW3,Q9Y487 9 |
| Thoracic kyphoscoliosis 0.7166274022154057 1.7675381642953645 0.0771381434011269 1.0 0.2165023738768411 6 O75844 1 |
| Abnormality of the peripheral nervous system 0.3423536911429693 1.763878726870293 0.0777523991540849 1.0 0.2179486760249753 122 P07602,O15121,Q9UBB4,P07196,Q9Y619,Q15067,Q9NQZ5,Q99720,Q9GZY8,Q9NZJ7,P50570,P06280,Q15125,P41440,Q96RL7,Q6PJG6,O15269,O60313,P02545,P21964,O95140,Q9NR77,O76024,P04062,O43681,P33897,O95721,Q96EK5,Q8TB36,P42892,P20700,Q9UBM7,Q10713,P39210,O95831,Q9Y2B2,Q6UWE0 37 |
| Demyelinating peripheral neuropathy 0.5090708571219573 1.7619508129630117 0.0780776083162047 1.0 0.2185986355965946 20 P03905,Q9Y4W6,P03915,O15121,P07196,P03886,P41440,Q9NR77 8 |
| Increased adipose tissue 0.6732284351775193 1.761481895020564 0.078156874705868 1.0 0.2186898453538148 4 O75431,P02545 2 |
| Abnormal mitral valve physiology 0.3902787595191359 1.76018060630425 0.0783771891509181 1.0 0.2188219026485161 48 P04062,Q3T906,Q9NX14,P53701,Q9NZ08,O75431,Q9Y4P3,O95169,O14521,Q96DX4,P02545,O75844,P51812,P40939 14 |
| Secondary microcephaly 0.3616076426032002 1.7600994985756129 0.0783909377976537 1.0 0.2188219026485161 80 O43909,Q9BT22,Q5T8D3,O15121,Q5XKP0,P50897,Q5KU26,Q9GZY8,O14521,Q9Y487,Q9UHX1,P55795,Q96CU9,P00374,Q9HC07,Q8WTW3,Q86Y39,O95721,Q15043,Q9HC21 20 |
| Blurred vision 0.7148383607075406 1.7591012194096185 0.0785603178440401 1.0 0.2190995871028404 6 P03915,P03886,P04439 3 |
| Delayed epiphyseal ossification 0.672716327181764 1.7589619710456577 0.0785839680471331 1.0 0.2190995871028404 4 Q9UG56,Q96HY6 2 |
| Abnormality of glycolipid metabolism 0.6696080802398016 1.7586554118652789 0.078636055050919 1.0 0.2191143854006573 8 O43681,Q9NZJ7,P07602,P17900,P06865 5 |
| Decreased number of peripheral myelinated nerve fibers 0.5085847471189249 1.7583319213875073 0.0786910492851287 1.0 0.2191372620996093 20 Q96RL7,Q8TB36,O15269,P02545,P39210,P07196,P50570,O95140,Q9NR77 9 |
| Thin clavicles 0.6012798841700062 1.7574080555924922 0.0788482812331561 1.0 0.2194446519881778 3 O75844 1 |
| Hypometric saccades 0.6722387742721193 1.7566115732397234 0.0789840389674427 1.0 0.2196319443425629 4 P04062,Q5HYK3 2 |
| Proximal amyotrophy 0.5230819746113071 1.7564631595785325 0.0790093565792524 1.0 0.2196319443425629 18 Q16637,Q9BTV4,Q13586,Q13608,Q92734,O14979,P02545,Q9H9S5,P50402,P07196,P35637 11 |
| Abnormally lax or hyperextensible skin 0.3860710798996628 1.7560981418408204 0.0790716523629297 1.0 0.2196747447615439 51 P04062,Q9NWM8,Q9NX14,Q8NCH0,P38435,Q6NUK1,O96000,Q9Y4P3,Q9Y487,Q9UHX1 10 |
| Vocal cord paresis 0.6719599458544606 1.755239021788707 0.0792184318389117 1.0 0.2198138142542756 4 Q8TB36,O95140 2 |
| Thoracic kyphosis 0.5155219405460928 1.753848285254983 0.0794565068662622 1.0 0.2199795774607047 19 O43909,P04062,Q3T906,P51648,Q7RTS9,Q9UHX1,P08236 7 |
| Hemiparesis 0.4918104758703752 1.753398790978172 0.0795335784022674 1.0 0.2200444661761494 22 Q9NZ08,P00403,P03886,O60313 4 |
| Bowing of the legs 0.3733257192330445 1.7497373291904066 0.080163649212456 1.0 0.2215259781186689 61 P16435,Q96HY6,O75419,Q7LGA3,O75431,Q32P28,Q8WVQ1,Q9Y4P3,Q9NVV0,Q7RTS9,P51798,Q96DX4,Q93063,O75718,P16278,Q9Y619,P08236,Q9NR77 18 |
| Narrow forehead 0.3839071000382295 1.747085522171296 0.0806225043583295 1.0 0.2226626240651034 52 Q3T906,O75787,Q9Y5U9,Q7LGA3,Q9H490,O43292,Q96A33,P49589,O75845,P20700,Q9UHX1 11 |
| Abnormal size of the clitoris 0.4734031270812437 1.7458560126668152 0.0808359749966443 1.0 0.2231206286884395 24 P16435,O75419,Q9NX14,P53701,O96011,Q13608,P56589,Q9UBM7,P40855,P50542,Q9Y5Y5,Q9Y619,O75381,Q08AM6 14 |
| Centrally nucleated skeletal muscle fibers 0.6430262375926338 1.7442400633722033 0.0811172380611102 1.0 0.2236333979271574 9 Q9BPX6,Q13586,P06753,P50570 4 |
| Zonular cataract 0.5810587575041428 1.743932856524817 0.0811707985236225 1.0 0.2236494236968517 13 Q9H6K4,O76024,P08670 3 |
| Depletion of mitochondrial dna in muscle tissue 0.7336962276773072 1.7398249807836692 0.0818897546363439 1.0 0.225148679815671 5 Q9UBX3 1 |
| Abnormal lower limb bone morphology 0.3200270575781065 1.739725636875987 0.0819072054666745 1.0 0.225148679815671 196 O43909,Q96J42,P48444,Q6NUQ1,P07602,Q03252,Q9Y619,P08236,O95202,O75787,Q15392,O43924,Q9NZJ7,Q7RTS9,Q96DX4,O75844,Q9UHX1,Q13510,Q9Y487,Q15125,Q7Z4L5,P51812,O75431,Q32P28,Q96MW5,Q8WTW3,O75845,Q8WVQ1,P51798,P02545,P13073,P21964,Q14739,P40939,P04062,P16435,Q7LGA3,Q96A33,O43505,Q9NVV0,Q9UBM7,Q10713,Q93063,P50542,Q9H9S5,P16278,O95831,O75718,Q9Y2B2,Q96HY6,P04066 51 |
| Cachexia 0.4977352482988202 1.735821198872704 0.0825954545685765 1.0 0.226774389917475 21 P04062,Q99720,Q9NZJ7,Q92581,P07602,P02545,P35637 7 |
| Avascular necrosis 0.4721115284207804 1.7352287455255435 0.0827002968713812 1.0 0.2269292270331281 24 P04062,Q9NZ08,P51798,Q14108,O75844,Q9Y619 6 |
| Follicular thyroid carcinoma 0.7325187099143253 1.7344835266304215 0.0828323261600192 1.0 0.2270710901068216 5 O14521 1 |
| Microglossia 0.6667948329814142 1.7297834012060491 0.0836689811553137 1.0 0.2290505597495555 4 Q03252 1 |
| Axonal degeneration regeneration 0.7079749165786706 1.72667517813945 0.0842260159404999 1.0 0.2301719128735716 6 O95140,Q8TB36,P02545,Q6UWE0 4 |
| Muscle flaccidity 0.6660748267073195 1.7262304509047153 0.0843059618393773 1.0 0.2302018524908009 4 P13473,Q13608 2 |
| Positional foot deformity 0.3393746448702245 1.7245288981944866 0.0846124067025166 1.0 0.2305954461884264 123 Q8NCH0,Q8TD16,Q96J42,Q15907,Q6NUQ1,P07196,Q9Y619,P08236,O95202,Q3T906,Q15392,Q7RTS9,Q9NVI7,Q9Y487,Q9UHX1,Q15125,Q9NWM8,Q6ZXV5,Q96MW5,Q8WTW3,O75845,Q8WVQ1,P02545,Q8NI60,P21964,Q9NR77,P16435,Q8TB36,Q96A33,Q9UBM7,P50542,Q9HC21 32 |
| Abnormal delivery 0.4708024030359996 1.724447159325056 0.0846271502984425 1.0 0.2305954461884264 24 Q9UBM7,P02545,O75844,Q9Y487,O60313,Q9UHJ6,P50570,Q9Y619 8 |
| Skeletal dysplasia 0.3774264460702732 1.7237943878854955 0.08474496811612 1.0 0.230782227125527 55 O43909,P51648,Q9HC07,P10619,Q8WVQ1,Q7RTS9,Q96DX4,P40855,P50542,Q9Y5Y5,P16278,O95831,Q14739,Q7Z4L5,O75381,Q96HY6 16 |
| Mitochondrial respiratory chain defects 0.6853252545464144 1.7227592953018738 0.084932062525673 1.0 0.2310231015506694 7 Q4J6C6,P03886 2 |
| Nonketotic hypoglycemia 0.7298395147487455 1.7223209034598048 0.0850114030951836 1.0 0.2310304523434069 5 P23786 1 |
| Thickened skin 0.3391525835285264 1.7209251342627236 0.0852644100139592 1.0 0.2313636217411936 123 Q13586,Q9H3H5,P40855,O95470,Q9Y5Y5,Q3T906,P51648,O14521,O75844,P21912,Q15125,Q9NWM8,Q06136,O75431,P42167,O15269,P02545,P50402,Q14739,O75381,P04062,O95721,Q07954,P16615,Q15800,Q9Y2B2,P04066 27 |
| Primary adrenal insufficiency 0.5035398439560044 1.7207058088758087 0.0853042217649533 1.0 0.2313636217411936 20 Q13423,P33897,P40855,Q9Y5Y5,O75381 5 |
| Abnormal vertebral morphology 0.340079276855079 1.7185331166417313 0.0856994193370459 1.0 0.2323009723233352 121 O43909,Q8NCH0,P10619,Q6NUK1,Q9Y4P3,O15228,Q6NUQ1,Q9Y619,P08236,O95202,Q3T906,Q7RTS9,P54802,Q14108,Q96DX4,Q9UHX1,Q15125,P51812,Q12768,Q32P28,Q8WTW3,Q8WVQ1,O75845,P51798,Q14739,P04062,P16435,Q02127,Q9UBM7,Q10713,Q9H9S5,P16278,O95831,P15586,Q96HY6,P04066 36 |
| Congenital onset 0.3398914397581627 1.7155029985883723 0.0862530461001069 1.0 0.2333964575002317 121 Q8TD16,Q6NUK1,P20674,O43819,Q9H3H5,P07602,Q5XKP0,Q03252,Q5KU26,P08670,Q9NX14,Q4J6C6,P51571,O43924,Q9NZJ7,Q9NWS8,Q9BUB7,P12235,Q9UHX1,P50570,Q15125,Q9Y5U9,P78318,Q8WTW3,O14678,P46977,Q7LGA3,O43505,Q9H9S5,Q96N66,Q5BJH7,Q9HC21 32 |
| Abnormality of corneal size 0.391564145674148 1.7142152520572922 0.0864892007688189 1.0 0.2337653874213202 46 O95202,Q3T906,Q9NWM8,Q8NCH0,Q96J42,Q9Y4P3,O75845,O43505,Q15125 9 |
| Craniofacial osteosclerosis 0.5932241008378575 1.7134039941969224 0.0866382419938136 1.0 0.2340331750282717 3 Q15043 1 |
| Papule 0.4865595637363828 1.7123133270958124 0.0868389419735655 1.0 0.2343355527582767 22 P38435,Q9NZ08,P16615,O14521,P02545,O75844,P21912 7 |
| Hyporeflexia 0.3281460249218448 1.712073294363684 0.0868831621419476 1.0 0.2343355527582767 140 O43909,P05023,Q8TD16,Q9H2C2,Q13586,Q9H3H5,O14979,P38935,P07602,P53007,Q9H0B6,Q9UBB4,P07196,P03886,Q15067,P03905,O75787,Q99720,Q9NZJ7,P54802,Q9NWS8,P12235,P50570,P41440,Q96RL7,P03915,O15269,P02545,P35610,P35637,O95140,Q9NR77,P40939,P04062,O43681,Q8TB36,Q8N766,O43505,Q10713,P50542,P39210,Q9H9S5,O95831,Q6UWE0,Q9HC21 45 |
| Exercise intolerance 0.4166599858293086 1.7116552467983572 0.0869602205930932 1.0 0.234362297616829 39 Q07021,P03905,Q9Y2R0,P23786,Q53H12,Q9H2D1,P03915,P06753,P13473,P00403,P12235,Q8IUX1,Q8NI60,Q13472,P03886,P40939 16 |
| Tachycardia 0.4401064892002567 1.7073876404708244 0.087750026077682 1.0 0.2349815847380653 28 P23786,Q9NX14,Q9BTV4,P42892,O14521,P02545,P21912,Q9HD47,O43772 9 |
| Radioulnar dislocation 0.6622596934212522 1.7073861536534285 0.0877503022477261 1.0 0.2349815847380653 4 P16435,Q8WVQ1 2 |
| Abnormality of the radioulnar joints 0.6622596934212522 1.7073861536534285 0.0877503022477261 1.0 0.2349815847380653 4 P16435,Q8WVQ1 2 |
| Acquired abnormal hair pattern 0.6820121906529757 1.7064180631684531 0.087930269855404 1.0 0.235217238151178 7 P33897,O75844 2 |
| Severe muscular hypotonia 0.4309342687103015 1.7060279121637192 0.0880028828629779 1.0 0.2352771137729388 34 Q9NWM8,Q01105,Q8TD16,Q9GZY8,O43505,Q9NWS8,O75746,P40855,P02545,Q9H9S5,Q9Y5Y5,P50542,O75381 13 |
| Increased connective tissue 0.6591907124314754 1.705106373346271 0.08817458719128 1.0 0.2356016921870825 8 P07196,O95831,O75431,P02545 4 |
| Cytochrome c oxidase negative muscle fibers 0.6589072416028664 1.7036457467892627 0.0884472894877099 1.0 0.2360469248222241 8 Q9Y2R0 1 |
| Postaxial polydactyly 0.4398577808009175 1.7027483219364257 0.0886151776453945 1.0 0.2362398930512395 27 O43909,Q96J42,O43924,O75845,Q14739,Q10713,Q15125,Q7Z4L5 8 |
| Somatic sensory dysfunction 0.3389972695315397 1.7010688697715382 0.0889300556770673 1.0 0.2369444714399223 121 Q8IV08,Q8NCH0,Q6UWE0,O43819,O15460,P38935,P07602,Q9H0B6,O00400,P07196,Q9Y619,O14773,P05067,Q9H6K4,Q9NZJ7,P54802,P50570,P06280,P41440,Q12768,Q96RL7,P29992,Q9NZ08,O15269,P02545,O95140,Q9NR77,P33897,Q8TB36,P20700,Q93063,O75298,Q9Y6B6,P39210,O95831,O00165 36 |
| Abnormal blood gas level 0.5907627692079045 1.6999260011196764 0.0891448454454479 1.0 0.2371225762901736 3 P06753 1 |
| Chordee 0.6806930309675726 1.699905119100843 0.0891487738785217 1.0 0.2371225762901736 7 P16435,P49589,Q9NX14 3 |
| Decreased methylmalonyl coa mutase activity 0.5223880597015068 1.6992548190331322 0.0892711814888467 1.0 0.2373134018693292 2 Q9Y4U1 1 |
| Abnormal muscle fiber protein expression 0.6577481249537469 1.697671329741986 0.089569811844518 1.0 0.2379722057173696 8 P02545,P50402,Q9H9S5 3 |
| Pulmonary infiltrates 0.6572683610814323 1.695197602713798 0.0900379415414425 1.0 0.2389448828215958 8 Q9NZ08,Q13510 2 |
| Hypoketotic hypoglycemia 0.6570258005929726 1.6939467309560745 0.0902754058538097 1.0 0.2393780335311739 8 P23786,O43772,P40939,P50416 4 |
| Juvenile onset 0.3937332076535688 1.693799600596599 0.090303370036205 1.0 0.2393780335311739 45 O75027,P50570,P39210,O14773,P16278,P54802,P51798,P02545,Q93063,P50402,Q13510,P07196,Q03252,P06280,Q9NR77 15 |
| Respiratory failure 0.3617178391709758 1.6918819665792262 0.0906684810287248 1.0 0.2398030294401734 74 O75419,Q8TD16,Q9BT22,O43819,P07602,Q15165,Q5XKP0,Q92804,Q9Y619,P23786,Q9NX14,Q8N183,Q9NZJ7,Q9BUB7,Q13510,P10253,Q70HW3,P35637,P40939,P53701,O95169,Q9H9S5 22 |
| Limb muscle weakness 0.3485422138820346 1.691492113179811 0.0907428528339671 1.0 0.2398642904482516 97 O43909,P05023,Q9Y4W6,Q9BTV4,O43819,P38935,P53007,O00400,P07196,Q15067,Q99720,P35670,P06753,Q7RTS9,P12235,Q13510,P50570,Q12768,Q96RL7,Q96BR5,O15269,P02545,P50402,Q14739,O95140,Q9NR77,P40939,P36551,P33897,Q8TB36,O75298,P39210,Q6UWE0 33 |
| Abnormal pharynx morphology 0.3934900172932121 1.6910779974658894 0.0908219068628382 1.0 0.2399378520843396 45 Q03519,Q3T906,Q13277,Q03518,O15460,P54802,Q7RTS9,Q86YV9,Q96DX4,Q13510,P16278,P15586,P08236 13 |
| Skin nodule 0.4574225743864173 1.68873034671224 0.09127111729476 1.0 0.2405602414659941 25 O14521,P16615,Q9NZ08,Q13510 4 |
| Weakness of muscles of respiration 0.4204703564501529 1.688602964276781 0.091295542240497 1.0 0.2405602414659941 37 P36551,P10253,Q9BTV4,Q8TD16,P06753,Q7RTS9,P53007,O95831,Q969X5,P02545,P12235,P50402,Q13510,P50570,Q15067,O95140 16 |
| Sound sensitivity 0.632627620231518 1.6882375251936186 0.091365642520923 1.0 0.2405602414659941 9 Q9GZY8,P17900 2 |
| Hip pain 0.7222447402938533 1.6877742317665103 0.0914545758827891 1.0 0.2406591199072946 5 O75844 1 |
| Abnormal periventricular white matter morphology 0.3815251341129546 1.6866871160676251 0.0916635307714552 1.0 0.2410735419053882 50 O95202,O43681,O75503,Q9NZJ7,P07602,O15121,O60313,Q9UHX1,P17900 9 |
| Abnormal lower motor neuron morphology 0.583205956208555 1.6811562964308524 0.0927325598694932 1.0 0.2436379395635632 12 P35637,Q99720,Q13510 3 |
| Encephalopathy 0.3425388887176597 1.680850937076392 0.0927918718530447 1.0 0.2436379395635632 111 Q7KZN9,Q9H2C2,O43676,O96000,Q9H3H5,Q6NUQ1,P07602,Q9NPL8,O43772,P03886,Q9Y619,Q5KU26,P23786,Q9UJS0,Q9NX14,Q8N183,Q9NZJ7,P50416,Q9NVI7,Q9BUB7,Q8IUX1,Q96CU9,P03915,Q9Y6M9,P00403,O75746,P40939,P04062,Q86Y39 29 |
| Nephropathy 0.4370180514231035 1.6772207408294255 0.0934993246861659 1.0 0.2449389467729314 27 P36551,P03915,P00403,Q14108,Q10713,P06280,P03886,Q7Z4L5,O76024 9 |
| Splenomegaly 0.3481431011214201 1.6761296622568709 0.093712797795586 1.0 0.2452238798181704 95 Q9BT22,Q6NUQ1,P07602,P08236,Q3T906,Q15392,P35670,Q9NZJ7,P54802,Q14108,Q13510,P10253,Q96RL7,Q9NZ08,P51798,P02545,Q14739,P21964,P04062,Q96A33,Q10713,Q16625,P15586,Q96HY6,P04066 25 |
| Abnormal cranial nerve physiology 0.3489892191863943 1.6717812794073468 0.0945674596546446 1.0 0.2470462805478837 91 Q9H3H5,P07602,P40855,Q9Y5Y5,P07196,Q9NZJ7,O14521,P12235,Q9UHX1,Q13510,P21912,P50570,P51812,Q9NZ08,P51798,P02545,O75381,Q9NR77,Q15043,Q9H9S5 20 |
| Resting tremor 0.4805772888404145 1.6653270594624623 0.0958475227983055 1.0 0.2492780659562816 22 P04062,O75787,Q9H6K4,Q9NZJ7,P07602,Q9BPX6,P12235 7 |
| Abnormality of the knee 0.3427235468244588 1.6639040267854972 0.0961316101890836 1.0 0.2497395796592723 108 O75419,Q8TD16,Q9H3H5,Q9Y4P3,Q86XL3,Q15041,Q96L58,Q9Y619,P08236,P23786,Q3T906,Q7RTS9,O14521,Q96DX4,P21912,Q13510,Q15125,Q5JRA6,O75431,Q6ZXV5,Q8WVQ1,P51798,P21964,P37268,Q9NR77,Q7LGA3,Q93063,P16278,O95831,Q96HY6 30 |
| Noncompaction cardiomyopathy 0.6946313331558631 1.663374099495739 0.0962375743582075 1.0 0.249876273998805 6 O14521,Q15233,Q86YT6,P21912 4 |
| Recurrent pancreatitis 0.7167673492656741 1.662796913025313 0.0963530947836419 1.0 0.2500376154939495 5 P00403,P03886 2 |
| Abnormal macrophage morphology 0.6531696242054881 1.6623666507624462 0.0964392813658427 1.0 0.2501226987362168 4 P16278,Q13510 2 |
| Memory impairment 0.3828965773694118 1.66170757186216 0.0965714221966875 1.0 0.2502496069666019 47 Q9UJS0,Q9Y4W6,O43681,P33897,P03915,Q9NZ08,Q9NZJ7,P00403,P07602,P03886 10 |
| Abnormal electroretinogram 0.4234780093974364 1.6599792190708584 0.0969186331619429 1.0 0.2508104296853816 35 Q53H12,Q96S66,O14773,O43924,Q96HR9,P12235,P50897,Q15067,P40939 9 |
| Axillary pterygium 0.5158751696065287 1.6592363361096485 0.0970681782904736 1.0 0.2510587228672438 2 O15111 1 |
| Gastrointestinal stroma tumor 0.6523429354094418 1.6582641448223134 0.0972641627012036 1.0 0.2511257863117003 4 O14521 1 |
| Breech presentation 0.6117791337327377 1.658044119694159 0.097308561519158 1.0 0.2511257863117003 10 P06753,Q9Y619,Q9UBM7,O60313,Q9UHJ6,O75718 6 |
| Paraplegia paraparesis 0.3481554495535271 1.655528467683363 0.097817346754877 1.0 0.2520222509350078 90 Q7KZN9,Q9Y4W6,Q5XKP0,Q15041,Q9Y5Y5,O00400,Q9Y619,O75787,Q8N183,Q9H6K4,O14521,P21912,Q13510,Q96CU9,Q12768,O60313,P35637,P04062,P33897,O95831,O75298,Q9P0J0,Q6DKK2 23 |
| Abnormal atrioventricular valve physiology 0.366093291394503 1.6532569584534316 0.0982785787431714 1.0 0.2530713924315641 60 Q6NUK1,O43819,Q9Y4P3,Q96L58,Q3T906,Q9NX14,Q15233,O14521,Q96DX4,O75844,P06280,P51812,Q9NZ08,O75431,P02545,P40939,P04062,P53701,O95169 19 |
| Corneal dystrophy 0.7145008047213705 1.6524463971125078 0.0984435838430077 1.0 0.2532178729932171 5 P06280,P12235 2 |
| Contractures of the joints of the lower limbs 0.3635943888274195 1.651641750256262 0.0986076036798035 1.0 0.25323576935012 66 Q9BTV4,Q8TD16,Q9H3H5,Q86XL3,P23786,Q3T906,Q8IZA0,Q99720,O14521,P21912,P02545,O60313,P50402,P35637,P37268,P33897,Q7LGA3,Q9H9S5,Q9HC21 19 |
| Elevated hepatic transaminase 0.3388831704860326 1.651616602115305 0.0986127334104651 1.0 0.25323576935012 115 Q8N511,P20674,Q9H3H5,Q6NUQ1,Q5XKP0,P40855,Q9Y5Y5,O43772,Q9Y619,P23786,O75787,Q9UJS0,P35670,P50416,O14521,P12235,Q13510,Q9Y5U9,P10253,Q96RL7,Q9HC07,O75431,Q96MW5,O75845,O75880,Q14739,P40939,Q2TAA5,P22695,Q10713,Q9Y6B6,Q16625 32 |
| Cutis laxa 0.4166159947924775 1.649852008757848 0.0989732083894967 1.0 0.2536053107748374 37 O75787,Q8NCH0,Q9NX14,P38435,Q6NUK1,O96000,Q9Y4P3,P36543,Q15904,Q9Y487,Q9Y3D3,Q96L58,P51812,Q08AM6 14 |
| Oligosacchariduria 0.713319593057353 1.6470488045220932 0.0995480147673153 1.0 0.2544716944453203 5 P16278,P10253,P04066 3 |
| Diastasis recti 0.6911816846932667 1.6469550422370114 0.0995672869679764 1.0 0.2544716944453203 6 Q3T906,Q8NCH0 2 |
| Increased circulating lactate dehydrogenase concentration 0.5652588788306565 1.6463544590351142 0.0996908033660861 1.0 0.2544716944453203 13 P23786,Q9UJS0,P10253,Q96RL7,Q5JRX3 5 |
| Cystic liver disease 0.6248821480538325 1.6463504785805376 0.0996916223969177 1.0 0.2544716944453203 9 O43909,Q96J42,Q7Z4L5,Q9UGP8 4 |
| Vegetative state 0.6907850347098867 1.6450657432561857 0.0999562541304035 1.0 0.254915090182701 6 P07602,O43681,Q9NZJ7 3 |
| Psychotic mentation 0.647550103270673 1.644978854612143 0.0999741717902693 1.0 0.254915090182701 8 P00403,P03886 2 |
| Sensory neuropathy 0.3893081661665182 1.644185894732379 0.1001378096356004 1.0 0.2550648137229201 45 P22626,Q8IV08,Q9H0B6,Q15041,P03886,P03905,Q15067,Q13608,Q96RL7,P03915,P00403,O15269,O60313,Q13472,O95140,P40939,P54098,O95831,P51149 19 |
| Telangiectasia 0.3892690256548644 1.6437461887092784 0.1002286408377153 1.0 0.2551472574368796 45 Q8IZA0,Q3T906,P10619,P03915,Q9Y2B2,O14521,Q14739,P21912,P03886 9 |
| Neck muscle weakness 0.4931911340498901 1.6431378167425248 0.1003544220953496 1.0 0.2553286871779563 20 Q86U42,Q9BTV4,Q99720,P06753,Q9NZJ7,P07602,P53007,P02545,Q13472,P35637 10 |
| Oligohydramnios 0.4000592685413126 1.6419381858693247 0.100602815149942 1.0 0.2558217080142935 42 P16435,P23786,Q3T906,Q7LGA3,Q96J42,Q9BUB7,Q96I36,Q9UHX1,Q9Y2B2 9 |
| Generalized onset seizure 0.3357600316816256 1.6404217208013092 0.1009175121534433 1.0 0.2564827058745136 120 Q9Y4W6,O75503,Q9H3H5,P07602,Q9Y619,P03886,Q9NZJ7,O14521,Q9NVI7,Q14108,P21912,Q13510,Q9NZ01,P51812,P00374,Q9Y5U9,P03915,Q9Y320,Q9NW15,P04062,Q01105,O43292,Q92581,O14653,Q96N66 25 |
| Abnormality of female external genitalia 0.399762972398923 1.6387499559803562 0.1012653453726186 1.0 0.2572271571178665 42 P16435,Q15392,Q9NX14,P53701,Q6NUK1,Q9UBM7,P40855,P02545,P50542,Q9Y5Y5,Q9Y619,O75381 12 |
| Absence of pubertal development 0.6478713251219721 1.6360501662807885 0.1018290885777251 1.0 0.2581757991010329 4 O75844 1 |
| Recurrent paroxysmal headache 0.563575154590623 1.6359086430208147 0.1018587088330122 1.0 0.2581757991010329 13 O14521,P00403,P03886,P21912 4 |
| Tetraparesis 0.4152317499741695 1.6359059049492335 0.1018592819681274 1.0 0.2581757991010329 37 P33897,Q9NZJ7,Q9UBX3,Q7RTS9,O14521,P07602,P21912,P17900 8 |
| Abnormality of upper limb joint 0.3243744087057041 1.6354270662940855 0.1019595523083991 1.0 0.2582901801041328 139 O43909,O75419,Q9BTV4,Q9Y4P3,P07196,Q96L58,Q9Y619,O95202,P23786,Q3T906,Q8IZA0,Q15392,Q9H6K4,Q7RTS9,Q9BUB7,Q96DX4,O75844,Q13510,Q15125,Q8WVQ1,P02545,P50402,P37268,Q9NR77,P16435,Q02127,Q7LGA3,P42892,Q93063,P50542,P16278,O95831,Q9Y2B2 33 |
| Abdominal distention 0.4314353478431642 1.631890564154058 0.1027025421528644 1.0 0.2600317337535228 29 P04062,Q3T906,O43681,Q13277,Q9NZJ7,Q7RTS9,P07602,Q96HY6 8 |
| Thin ribs 0.5497665204000827 1.6282498070263391 0.1034719276178117 1.0 0.2615555903733569 14 O75431,Q32P28,P02545,O75844,P50570,Q9Y619 6 |
| Inappropriate antidiuretic hormone secretion 0.51071913161467 1.6274642392801142 0.1036385376834378 1.0 0.261835442561609 2 Q13724 1 |
| Decreased calvarial ossification 0.6458778827365611 1.6261346840183952 0.1039210071043095 1.0 0.2624075457016634 4 P02545,O75844 2 |
| Emg chronic denervation signs 0.5237534256221167 1.6237451474851623 0.1044302111845552 1.0 0.2631259328609234 16 O43681,P39210,O43819,Q9NZJ7,P07602,Q969X5,O60313,Q13510,O95140 9 |
| Airway obstruction 0.5234941867503131 1.6219741854715473 0.1048088755754894 1.0 0.2637962241781798 16 P16435,O75844,P09601,P21964,Q96HY6 5 |
| Parkinsonism 0.4075878284888825 1.618076600444 0.1056460906156906 1.0 0.2657606275208888 39 P04062,O75787,Q9Y4W6,Q99720,Q96RL7,P05067,Q15043,O96008,Q9NZJ7,P07602,P35637 11 |
| Emg myopathic abnormalities 0.4191547198770796 1.6175496790444 0.1057596811728289 1.0 0.2659035676937901 35 Q9BTV4,Q13586,P02545,P12235,P50402,Q9Y6B6,P07196,P50570,Q9H9S5 9 |
| Congenital bilateral hip dislocation 0.5085481682496734 1.6140632628242468 0.106513704875947 1.0 0.2673688068804586 2 Q9Y4R8 1 |
| Supranuclear gaze palsy 0.4573647317945254 1.613203663733782 0.1067002677533477 1.0 0.2675503501909426 24 P04062,Q96RL7,Q99720,Q9NZJ7,P07602,P35637 6 |
| Positive romberg sign 0.6036733816908149 1.6125963254570994 0.1068322373284325 1.0 0.267594759169186 10 P07196,Q9H6K4,Q8IV08,P41440 4 |
| Renal steatosis 0.5080054274084285 1.610710908026902 0.1072427470937837 1.0 0.2683360189034632 2 P01130 1 |
| Insulin resistance 0.4956955817009581 1.6085340784319593 0.107718258780346 1.0 0.2691504723191076 19 O75431,P02545,O75844,Q03252,O95140,O76024 6 |
| Neuronal loss in central nervous system 0.5087005269960645 1.6073115063008514 0.107986051464763 1.0 0.2694761135114278 17 P04062,Q6PJG6,O43819,Q9NZJ7,Q92581,P49768,P07602,P35637 8 |
| Talipes valgus 0.6826306600565951 1.606162970113721 0.108238107137776 1.0 0.2698580847128871 6 Q93063,Q15233,P49589 3 |
| Lower limb pain 0.7043289639440031 1.6058906521366167 0.1082979377841102 1.0 0.2698580847128871 5 O75477,O95140,P54886 3 |
| Proximal muscle weakness in lower limbs 0.4730352013967555 1.605826868295417 0.1083119554355738 1.0 0.2698580847128871 22 P35670,Q9BTV4,P02545,P12235,P50402,P07196,P50570,O95140 8 |
| Cardiac arrest 0.422860942719782 1.6041482902149875 0.1086813696699933 1.0 0.2706345218151242 33 P04062,Q9NX14,Q9BTV4,Q9Y4P3,O15460,P50416,P02545,P50402,Q9HD47,O43772 10 |
| Loss of eyelashes 0.57304210336472 1.6024524225426513 0.1090556004287233 1.0 0.2714221213645802 3 O75844 1 |
| Pseudoepiphyses of the metacarpals 0.6405159345874585 1.5994266784559157 0.1097258283534621 1.0 0.2724392295194411 4 O95202 1 |
| Abnormal cornea morphology 0.314483999442355 1.599294924827666 0.1097550867000822 1.0 0.2724392295194411 187 Q8NCH0,Q96J42,P10619,P48444,Q6NUK1,Q9H3H5,Q9Y4P3,P40855,Q9Y5Y5,P08236,O43683,O95202,Q3T906,Q9NX14,P35670,P51648,Q9NVI7,Q96HR9,O75844,P12235,Q13510,Q15125,Q9NWM8,Q06136,Q9NZ08,O75845,P02545,Q16625,P21964,Q14739,O75381,P04062,P53701,Q7LGA3,Q2TAA5,O43505,Q9UBM7,P50542,P39210,Q9H9S5,Q9Y2B2,P04066 42 |
| Profound global developmental delay 0.4870009752522977 1.5965009160748962 0.1103770013988021 1.0 0.2732589188964002 20 Q9H490,Q9GZY8,Q92581,O60313,P40855,Q9Y5Y5,O75381,P37268 8 |
| Stroke 0.4051260375354855 1.5925649884492952 0.1112578130781953 1.0 0.2750034809806159 39 O95721,P51970,P05067,Q13586,P03915,Q9H3H5,Q9Y4P3,P00403,P02545,O75844,Q96L58,P03886,O76024 13 |
| Abnormality of metacarpal epiphyses 0.7002630255626698 1.5872346575128848 0.1124595080757178 1.0 0.277388275843424 5 P16435,O95202 2 |
| Abnormality of subcutaneous fat tissue 0.5304541203413631 1.586941926442428 0.112525798030145 1.0 0.2774057041964208 15 Q6NUK1,O75844,O75431,Q9Y487 4 |
| Distal peripheral sensory neuropathy 0.6362654008712764 1.5864109490644906 0.1126461182904576 1.0 0.277556243068124 8 P00403,P03886,P40939 3 |
| Basal ganglia calcification 0.582867796888667 1.5823648604302885 0.1135663017707913 1.0 0.2796764234986259 11 P29992,P03915,P00403,O60313,P03886 5 |
| Slender long bone 0.5174326458808585 1.5804943210150362 0.1139937064182303 1.0 0.2804340970919071 16 O75419,Q9H490,Q32P28,Q96DX4,Q9Y487,Q9Y619,P37268 7 |
| Lower limb hypertonia 0.5419362061343084 1.577985228094544 0.1145690034515121 1.0 0.2814059843559951 14 O14521,P21912,O00400 3 |
| Neonatal death 0.529026178878726 1.5774579201701966 0.1146901972199092 1.0 0.2815560187516011 15 P04062,Q6NUK1,O96000,O14521,Q9NVI7,Q14739 6 |
| Impacted tooth 0.5684474405814446 1.5770599736353497 0.1147817259969565 1.0 0.2815702666704887 3 O75844 1 |
| Lower limb muscle weakness 0.371041790418205 1.5769100339035955 0.1148162274424922 1.0 0.2815702666704887 51 O43909,Q12768,Q9Y4W6,P33897,P02545,O75298,Q13510,P07196,O00400,Q9NR77,P40939 11 |
| Abnormal circulating carbohydrate concentration 0.3904477927488702 1.5753726229225105 0.1151704598264018 1.0 0.2821435323362271 43 Q9UJS0,Q9NX14,Q86Y39,Q8N183,P22695,O43676,Q9Y6M9,O96000,Q5JRX3,Q9NPL8,Q70HW3,Q8IUX1,P21912,P03886,Q96CU9 15 |
| Pain 0.311333360797479 1.5747421778133088 0.1153159679412356 1.0 0.2822292806361148 197 Q9BTV4,Q13586,Q9Y4P3,O15460,P07602,Q15165,Q92804,Q03252,Q8N1F7,P23786,P35670,Q9H6K4,Q9NZJ7,O14521,Q14108,O75844,P12235,Q13510,P21912,P50570,P06280,Q8IUX1,P29992,Q9NZ08,Q9UGP8,P14174,P51798,O75477,O15269,Q70HW3,O60313,P02545,P50402,P35637,P21964,Q14739,O95140,Q9NR77,P40939,P04062,Q13423,P33897,Q07954,Q15043,P42892,P20700,Q15800,Q93063,Q9H9S5,Q01844,Q96HY6 51 |
| Hyperactive patellar reflex 0.5969362673299585 1.5746988650502285 0.1153259699268838 1.0 0.2822292806361148 10 O14521,Q15041,P13073 3 |
| Type ii diabetes mellitus 0.4001577788954781 1.5728334825658357 0.1157573805131861 1.0 0.2831371124406078 40 P03915,P49589,Q9Y4P3,P00403,Q96HR9,P03886,O76024 7 |
| Hypercholesterolemia 0.581138662289312 1.5722781411620337 0.1158860601451372 1.0 0.2832769965124669 11 O75431,Q9UJS0,P02545,Q8N511 4 |
| Upper motor neuron dysfunction 0.2906176952542172 1.572064792188549 0.1159355256862508 1.0 0.2832769965124669 423 O43909,Q8TD16,O43819,P07602,Q86XL3,P50897,P03886,O75787,P51648,O14773,Q9H6K4,Q7RTS9,P50416,Q13510,Q96CU9,P00403,Q8NI60,P35637,Q9NR77,Q9NX46,Q13423,Q01105,Q9H490,Q2TAA5,O43292,Q9UBX3,O75298,P50542,P16278,O95831,Q5BJH7,P17900,Q8WWI5,Q8NB90,Q7KZN9,P51970,Q9H2C2,Q15907,O75503,O15121,Q15165,Q5XKP0,Q92804,Q9Y5Y5,Q9UBB4,Q96L58,Q15067,Q99720,Q9GZY8,Q9NZJ7,O14521,Q9Y487,Q9NZ01,Q9NZ08,O60313,O75381,P04062,O43681,P33897,Q15043,Q96N66,Q9P0J0,Q6DKK2,P40855,Q15041,O00400,P07196,Q15392,Q9NVI7,P21912,Q9Y320,Q6ZXV5,Q9Y287,P40939,O43505,O95169,P20700,Q9Y4W6,Q9Y4P3,P51572,Q9Y619,Q5KU26,O75027,Q8N183,P49589,P51812,Q12768,P03915,O75746,P35610,P11117,O00584,Q10713,Q9H9S5,Q53FT3,Q16625,P04066 97 |
| Atrophy degeneration involving the spinal cord 0.5648328418221537 1.570385012914935 0.1163255669944005 1.0 0.2833223965467196 12 P33897,P54886,Q13217,P20700,P07196 5 |
| Feeding difficulties 0.2868060087865809 1.5702157838751536 0.1163649187284359 1.0 0.2833223965467196 392 Q8TD16,P48444,O43676,O96000,O43819,P07602,P03886,O43924,P50416,Q9UHX1,Q13510,P55795,Q7Z4L5,Q96CU9,Q9Y584,P47985,P35637,O14678,P37268,Q86Y39,Q01105,Q7LGA3,Q9H490,Q2TAA5,P22695,Q9UBM7,Q93063,P50542,P16278,O95831,Q5BJH7,Q9Y2B2,Q8NB90,O75419,Q9H2C2,Q9H3H5,O15121,Q5XKP0,Q9Y5Y5,P23786,Q3T906,Q99720,Q9GZY8,Q9NZJ7,O14521,Q9Y487,Q9NZ01,Q9Y6M9,O60313,P21964,O75381,O76024,P04062,O43681,P33897,P46977,Q96A33,Q96N66,Q9HC21,Q9NPL8,P40855,Q15392,Q13277,Q9NVI7,P21912,P10253,Q8WTW3,P40939,O95169,P20700,Q6NUK1,Q9Y619,Q9NX14,Q8N183,Q4J6C6,P51571,P49589,Q9NWS8,Q8IUX1,P51812,P00374,Q12768,Q9Y5U9,O75880,P02545,P53701,Q92581,Q10713,Q9H9S5,Q53FT3 90 |
| Abnormal atrioventricular conduction 0.540706831100086 1.5700757922183668 0.1163974796413012 1.0 0.2833223965467196 14 Q9BTV4,O14521,P02545,P50402,P21912,P06280,O43772 7 |
| Cardiovascular calcification 0.6105540538677846 1.5684944706579644 0.1167657793729819 1.0 0.2837211676554148 9 P04062,O75431,O75844 3 |
| Hemianopia 0.6105400277884122 1.568418029527667 0.1167836061570537 1.0 0.2837211676554148 9 P00403,P03886 2 |
| Abnormal pupillary function 0.5804073336983508 1.568009723589416 0.1168788631109607 1.0 0.2838053887048937 11 P07602,Q9NZJ7,Q9NR77 3 |
| Foam cells 0.6958680034845027 1.5670398562005643 0.1171053758237889 1.0 0.2842080727246775 5 P16278,O75845,Q13510 3 |
| Incomprehensible speech 0.4998643147897039 1.5603272682031897 0.1186825626783845 1.0 0.2872915367367199 2 Q6P1N0 1 |
| Abnormal placenta morphology 0.6309914331722625 1.5589494352232645 0.1190083484770585 1.0 0.2873466201831468 8 P02545,O75844 2 |
| Atrophy degeneration affecting the brainstem 0.5142598253662964 1.5587290109739182 0.1190605323178717 1.0 0.2873466201831468 16 Q9BTW9,Q13217,Q96MW5,P20700,O15121,O60313,Q96DA6 7 |
| Progressive pes cavus 0.6725685788944679 1.5580003995660612 0.1192331534047816 1.0 0.2874904667332666 6 O75298,O00400 2 |
| Adrenal insufficiency 0.418023923495912 1.55764621664241 0.1193171364922012 1.0 0.2874904667332666 33 Q13423,P33897,P40855,O95470,Q9Y5Y5,O75381 6 |
| Facial telangiectasia 0.6934486109788922 1.5559104169734432 0.1197293959704697 1.0 0.2881363447280637 5 Q3T906 1 |
| Ovoid vertebral bodies 0.6082284677223024 1.5558143564533795 0.1197522432756432 1.0 0.2881363447280637 9 P16278,Q3T906,P15586,P54802 4 |
| Thoracic hypoplasia 0.4044854328448381 1.5555518397086878 0.1198146984175716 1.0 0.2881363447280637 38 P16435,P04062,Q3T906,Q96A33,Q8WVQ1,Q92581,P51798,P02545,Q9UHX1,Q14739,Q7Z4L5,Q96HY6 12 |
| Papilloma 0.5623730423188918 1.5554822646555442 0.1198312552370342 1.0 0.2881363447280637 12 O14521,P16615 2 |
| Vitiligo 0.6071854566194198 1.5501236182734324 0.121111848235655 1.0 0.2902915930246074 9 P03915,P03886,P00403,Q8N766 4 |
| Generalized muscle weakness 0.4039248616726163 1.549793975806813 0.1211909734152383 1.0 0.2902915930246074 38 P10253,O14521,P53007,Q15165,Q92804,P12235,P21912,Q9H9S5,O95831,P35637,Q9NP58,P40939 12 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4321938872972367 1.5496589765696098 0.1212233894013945 1.0 0.2902915930246074 26 Q9UJS0,P03915,P20674,O96000,Q9BUB7,Q5XKP0,O75880,Q8IUX1,Q9P0J0,P03886 10 |
| Genu valgum 0.3976196625276999 1.5460928379769636 0.1220821482414349 1.0 0.2920494291945256 40 Q7LGA3,O75431,Q9Y4P3,Q7RTS9,P51798,Q96DX4,Q93063,P16278,Q9Y619,P08236,Q9NR77 11 |
| Ocular pain 0.6295538336892331 1.5446608288665906 0.12242832437318 1.0 0.2922804645076328 4 Q15043 1 |
| Abnormal metatarsal morphology 0.416398416028803 1.5419825565165826 0.1230778325054884 1.0 0.2936813894323524 33 O95202,P16435,Q15392,Q8WVQ1,O43505,Q7RTS9,Q9UBM7,Q96DX4,Q9H9S5,P50542,Q03252,P08236 12 |
| Bilateral sensorineural hearing impairment 0.4204894472216596 1.5402629365573477 0.1234962742787644 1.0 0.2941613472315442 31 O43681,P03915,Q9NZJ7,P00403,P07602,P35637,P03886,Q15067,P38159 9 |
| Stuttering 0.6688426976060363 1.5401237915973849 0.1235301814697795 1.0 0.2941613472315442 6 P00403,P03886 2 |
| Agenesis of cerebellar vermis 0.6285713633320467 1.5397421907472928 0.1236232082130908 1.0 0.2942332862144905 4 O43924 1 |
| Redundant neck skin 0.5899353900552856 1.535204138884319 0.1247336920020143 1.0 0.2961113368644048 10 O96000,P36543,Q9Y487,Q9Y3D3,O43933,Q9Y2I8,Q08AM6 7 |
| Abnormality of the phalanges of the toes 0.4639379582663985 1.533684569767951 0.1251072716154575 1.0 0.2965599495176129 22 Q7LGA3,O75431,Q8WVQ1,O75844,Q9Y2B2 5 |
| Delayed ability to stand 0.6272714626655682 1.5332318559961498 0.1252187378470126 1.0 0.2966740354453249 4 P21912 1 |
| Abnormality of the tarsal bones 0.4128960588220841 1.530973839599857 0.1257758582453532 1.0 0.2976928347757627 34 P16435,O75787,Q8WVQ1,Q7RTS9,Q14739,Q96DX4,P02545,O75844,Q9UHX1,Q15125,P40939 11 |
| Ovarian cyst 0.4782705125750698 1.5304357597710907 0.1259089031900819 1.0 0.2977817621703987 20 P16435,Q9Y4P3,O14521,P02545,P21912 5 |
| Cerebral visual impairment 0.3504272957864384 1.5272872808139109 0.1266895908683765 1.0 0.2992506523587874 73 Q86YH6,Q01105,Q9H490,P03915,Q96S52,Q96A33,Q8N766,P00403,P20700,P37268,P12235,Q9UID3,Q96N66,Q5BJH7,P03886,Q9NZ01,Q96CU9,Q8NB90 18 |
| Titubation 0.5460425539021222 1.5266274370791404 0.1268536804199507 1.0 0.2994872172817788 13 Q96RL7,Q99720,P20700,Q5T8D3,Q5JRX3,P35637 6 |
| Poor wound healing 0.6452344948858337 1.523559113367574 0.1276188833659843 1.0 0.3008638867319058 7 P04062 1 |
| Depression 0.329971952338607 1.5235166733438577 0.1276294925141539 1.0 0.3008638867319058 117 Q9Y4W6,Q9Y4P3,O15460,P07602,Q15165,Q92804,Q9UBB4,P50897,P03886,P35670,P49589,Q9NZJ7,P49768,P12235,P06280,Q9NZ01,P51812,Q96RL7,P29992,P03915,P00403,P35637,P21964,O76024,P04062,O43681,P20700,Q9NWW5,Q96N66,Q6DKK2 30 |
| Myopathy 0.3305935210718281 1.5190774529577038 0.1287430013264376 1.0 0.3027270171752179 115 Q8NCH0,Q9BTV4,Q13586,O43676,Q9H3H5,Q9Y4P3,P07196,Q03252,P03886,P23786,P13473,O14521,Q9NWS8,P12235,P21912,P50570,Q9NWM8,P03915,P00403,P42167,O60313,P02545,P50402,O76024,P40939,Q86Y39,Q9Y6B6,Q9H9S5 28 |
| Increased intracranial pressure 0.476660265943106 1.51821510640197 0.1289601804903684 1.0 0.3030855421058131 20 O14521,P07602,Q9NZJ7,Q9NZ08 4 |
| Abnormality of prothrombin 0.520078648961688 1.517876902053053 0.1290454338149551 1.0 0.3031338074168755 15 Q9UJS0,Q8NI22,P38435,Q6NUQ1,Q5XKP0,P40939 6 |
| Limb girdle muscle weakness 0.4135153982830583 1.5141574291470266 0.1299859159165717 1.0 0.3043926407221429 33 Q9H3H5,Q9NZJ7,P07602,P02545,P12235,O60313,Q9H9S5 7 |
| Prominent superficial blood vessels 0.5710946272170366 1.513539999870953 0.1301425487196224 1.0 0.3043926407221429 11 Q6NUK1,O75844,Q9Y487 3 |
| Microcornea 0.4153910062084232 1.51123780284855 0.1307278741654953 1.0 0.3052489344921137 32 Q9NWM8,Q8NCH0,Q96J42,O43505,O75845,Q15125 6 |
| Onion bulb formation 0.5706292729774143 1.510812668172256 0.1308361861740277 1.0 0.3053496243344025 11 P07196,Q8TB36,P50570,Q9NR77 4 |
| Heterotropia 0.3547087936448072 1.506889308869733 0.1318390322816303 1.0 0.30738378656404 60 P04062,Q15233,O43924,Q96MW5,O43819,Q9H3H5,Q8N766,P20700,Q9NVI7,Q9UHX1,P50542,P55795,Q9Y2B2,Q5KU26,P40939 15 |
| Laryngomalacia 0.5180964023504842 1.5046424297853431 0.1324160315197222 1.0 0.3085754684768055 15 P16435,P07602,P21964,Q9NZJ7 4 |
| Short fourth metatarsal 0.6212299530142686 1.5029372559722856 0.1328552246207652 1.0 0.3091375420385815 4 Q96DX4 1 |
| Abnormal rib cage morphology 0.3376469768076086 1.502287571616168 0.1330228569853306 1.0 0.3093739136639964 91 O75419,Q9Y619,P08236,O95202,Q3T906,Q7RTS9,P54802,O75844,Q9UHX1,P50570,Q7Z4L5,Q12768,O75431,Q32P28,Q8WTW3,Q8WVQ1,P51798,P02545,Q14739,P16435,Q9UBM7,Q93063,P16278,O95831,O75718,P15586,Q96HY6,P04066 28 |
| Cerebral white matter atrophy 0.4352696112996578 1.4991958172454705 0.1338228398399299 1.0 0.3107375066301678 25 Q9H9P8,P51970,P54886,Q2TAA5,O00754,O75503,Q8N766,Q8WVX9,P20700,O60313,P51572,Q9Y5Y5 12 |
| Pericarditis 0.6811050650161974 1.4989965470668616 0.133874527835115 1.0 0.3107375066301678 5 Q9NZ08,O15460 2 |
| Decerebrate rigidity 0.6809447880816593 1.4982561368855836 0.1340667155451829 1.0 0.3109167281218263 5 P07602,Q9NZJ7 2 |
| Glomerular sclerosis 0.4042143715891726 1.4959981785408292 0.1346541298343375 1.0 0.3120336141783819 36 O75431,O14521,P00403,Q14108,P21912,O95470,P03886 7 |
| Occipital encephalocele 0.659407621021984 1.4947573601899768 0.1349777782505259 1.0 0.3123695223940037 6 Q10713,Q6ZXV5,O43505 3 |
| Inappropriate behavior 0.4662644874138069 1.493088639686594 0.1354139858482164 1.0 0.3132242517101459 21 Q96RL7,P35670,Q9NZJ7,Q92581,P49768,P07602,P17900 7 |
| Skin plaque 0.6386465684679746 1.4905448655183964 0.1360810288513214 1.0 0.3146118159622851 7 P16615,Q06136 2 |
| Talipes equinovarus 0.3350974830549243 1.4874280346405524 0.136901797137559 1.0 0.3159643546621707 97 Q8NCH0,Q8TD16,Q15907,Q6NUQ1,Q9Y619,P08236,O95202,Q3T906,Q15392,Q7RTS9,Q9Y487,Q15125,Q9NWM8,Q6ZXV5,Q96MW5,Q8WTW3,O75845,Q8WVQ1,Q8NI60,P21964,Q9NR77,P16435,Q8TB36,Q96A33,P50542,Q9HC21 26 |
| Difficulty running 0.4917864807957455 1.4872258922681878 0.1369551597395908 1.0 0.3159643546621707 17 Q8TD16,Q13586,Q9H3H5,Q9BPX6,Q9H9S5,P07196,O95140 7 |
| Aplasia hypoplasia of the tongue 0.6578280942398882 1.4871494425169212 0.1369753455266829 1.0 0.3159643546621707 6 Q96J42,Q03252,Q9UBM7 3 |
| Anotia 0.6179291231400937 1.4863608270505726 0.1371837054733646 1.0 0.3160690980999705 4 Q9Y619 1 |
| Female hypogonadism 0.6778863670639352 1.484120956506871 0.1377768345226231 1.0 0.3170044361808647 5 O75844 1 |
| Abnormality of hindbrain morphology 0.2826364259049717 1.4840611245517936 0.137792705393732 1.0 0.3170044361808647 319 Q8IV08,Q9Y4W6,O75419,P51970,Q8TD16,Q96J42,Q9BT22,Q6NUK1,Q8WWI5,O75503,Q9H3H5,Q9Y4P3,Q15907,O15121,Q5XKP0,P51572,Q9Y5Y5,O00400,Q9UBB4,Q92643,O95202,P23786,O43683,O75787,Q99720,O14773,Q15233,Q9H6K4,O43924,Q9GZY8,P49589,O14521,Q9NVI7,Q14108,Q9Y487,P12235,P21912,P55795,Q15125,P51812,Q96CU9,P00374,P41440,Q12768,Q5HYK3,Q9Y5U9,Q9Y320,Q96TA2,Q8WTW3,Q96MW5,O75845,Q6PJG6,P51798,O60313,P13073,Q8NI60,Q9NW15,P35637,P16435,Q9NX46,P46977,Q9H490,O43292,Q15043,O43505,Q92581,P20700,Q5JRX3,Q10713,Q9UBM7,Q9H9S5,Q5BJH7,Q16625,Q6DKK2,Q9HC21 75 |
| Infectious encephalitis 0.5944708534530062 1.48057091363728 0.1387209509558555 1.0 0.31845261878898 9 Q9NZ08,Q9BUB7 2 |
| Epiphora 0.6564308578733693 1.4804165150108295 0.1387621253092033 1.0 0.31845261878898 6 O14521,Q15043 2 |
| Hypopigmented macule 0.6765923063830173 1.478136440339373 0.1393712621427498 1.0 0.319537440957729 5 Q9NP58 1 |
| Abnormal exteroceptive sensation 0.3525235336873747 1.4759943237950874 0.139945416032196 1.0 0.3206968339994159 59 Q8NCH0,P33897,P29992,P05067,Q9NZ08,Q9H6K4,Q9NZJ7,O15460,P54802,P07602,O15269,P39210,P07196,O95831,P06280,Q9NR77 16 |
| Adenoma sebaceum 0.6353744023513705 1.4741208575044182 0.1404490536498217 1.0 0.3213931056277355 7 O14521 1 |
| Angiofibromas 0.6353744023513705 1.4741208575044182 0.1404490536498217 1.0 0.3213931056277355 7 O14521 1 |
| Apnea 0.3347389573270788 1.4735474432561335 0.1406034809619409 1.0 0.3214653034574255 95 Q7KZN9,P48444,O43819,Q9H3H5,P07602,O43772,P03886,O43683,P23786,Q3T906,Q8N183,O43924,Q9NZJ7,P51812,P03915,P51798,O75880,O60313,O76024,P04062,Q86Y39,Q96A33,O95169,Q10713,Q9P0J0 25 |
| Microdontia 0.4136518029967175 1.4708615718879992 0.1413285569267242 1.0 0.3223663924013494 30 Q7LGA3,Q6NUK1,Q96A33,Q9Y4P3,Q9Y487,Q9Y2B2 6 |
| Impaired visuospatial constructive cognition 0.577826910279106 1.4666389574698209 0.1424742964538015 1.0 0.3244285875496384 10 P03915,P03886,P00403,P33897 4 |
| Central hypoventilation 0.6130825115151107 1.4653041123493582 0.1428379650531386 1.0 0.3247830234509229 8 O43819,Q8N183,O95169 3 |
| Bilateral cleft lip 0.548045602605863 1.463778044947487 0.1432546031004349 1.0 0.3255723245620753 3 O15111,Q9NXE4 2 |
| Fair hair 0.6130918633485187 1.4620384926197871 0.1437306619908041 1.0 0.3263375767159119 4 Q13724,Q05086 2 |
| Polydactyly 0.3576148106981489 1.4610986654997684 0.1439883664128041 1.0 0.3266961488232052 54 O43909,O95202,Q12768,O75419,Q96J42,O43924,O75845,P21964,Q14739,Q10713,Q9UBM7,Q9UHX1,Q15125,Q7Z4L5 14 |
| Plantar hyperkeratosis 0.3895704004647446 1.4609539319613916 0.1440280843979331 1.0 0.3266961488232052 40 Q06136,O75431,P16615,O14521,P42167,P02545,P21912,Q9Y2B2 8 |
| Lumbar hyperlordosis 0.4390589087624471 1.460078125555649 0.1442686036693437 1.0 0.3269727972484059 24 O43909,Q9H3H5,Q7RTS9,Q9H9S5,Q15738,O95140,Q96HY6,P04066 8 |
| Abnormal liver physiology 0.6521588648146304 1.459813638186267 0.1443412992910793 1.0 0.3269727972484059 6 O75845,Q13510 2 |
| Focal white matter lesions 0.6119516351290242 1.4593716830870327 0.1444628354205575 1.0 0.3269727972484059 8 O00584,P12235,P42345 3 |
| Recurrent ear infections 0.5472312703583061 1.459239938452129 0.1444990799112298 1.0 0.3269727972484059 3 P61011,Q01082 2 |
| Elbow flexion contracture 0.4122587955275647 1.4577918526733111 0.1448979246629538 1.0 0.3277169865385204 30 O43909,P23786,P16435,Q7LGA3,P02545,P50402,P37268 7 |
| Multicystic kidney dysplasia 0.4303054813730078 1.4563536760084206 0.1452948743775457 1.0 0.3284561735446062 25 O43683,O96011,Q96J42,Q13608,P56589,O15078,Q10713,P40855,Q9UBM7,P50542,Q9Y5Y5,O75381 12 |
| Quadriceps muscle weakness 0.6511711137848712 1.4550463182525606 0.1456564390353323 1.0 0.3290382779572906 6 O95140,P54098,P12235 3 |
| Acute hepatic failure 0.5226922078348516 1.4536558412881624 0.1460417467649377 1.0 0.3295084498299462 14 Q6NUQ1,P35670,P40939,P39210 4 |
| Abnormality of the ankles 0.3569175778118342 1.452450588817872 0.1463763586254041 1.0 0.3297868512753212 54 O75787,P33897,Q15233,P06753,O00754,P49589,Q9Y4P3,Q9NZJ7,Q7RTS9,Q15043,P07602,P02545,O75844,O75298,Q5JTV8,Q9NW15,Q93063,O95140 18 |
| Lack of insight 0.6109660407912274 1.4513386876521803 0.1466855734545396 1.0 0.3298488843308033 4 P49768 1 |
| Collectionism 0.6109660407912274 1.4513386876521803 0.1466855734545396 1.0 0.3298488843308033 4 P49768 1 |
| Eeg with continuous slow activity 0.6109660407912274 1.4513386876521803 0.1466855734545396 1.0 0.3298488843308033 4 P49768 1 |
| Postaxial hand polydactyly 0.4806822552560673 1.450491218697321 0.1469215861946067 1.0 0.3302210699306803 18 Q96J42,O43924,O75845,Q10713,Q14739,Q7Z4L5 6 |
| Abnormal t cell activation 0.481682496607887 1.4471950277788304 0.1478423087616287 1.0 0.3321311147431506 2 Q9H0U3 1 |
| Limb fasciculations 0.6098833743349659 1.4458868712289774 0.148208934879817 1.0 0.3327065619926569 4 Q16637,Q92734 2 |
| Abnormality of bladder morphology 0.5741528689098011 1.44577428886273 0.1482405198289229 1.0 0.3327065619926569 10 P16435,Q9NWM8 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.5736443664648438 1.44288444538623 0.1490530255732882 1.0 0.3343699098588516 10 P04062,P07602,O43681,Q9NZJ7 4 |
| Ectrodactyly 0.4730356564807946 1.4403940595113889 0.1497559434074922 1.0 0.3357373462059326 19 O95202,Q3T906,Q99720,P07196,Q9NR77 5 |
| Aplasia hypoplasia of the 5th finger 0.508472191461232 1.440217242194648 0.149805946535098 1.0 0.3357373462059326 15 Q9UHX1 1 |
| Confusion 0.4442199737661393 1.4368782305454966 0.1507525965741858 1.0 0.3375359284672497 23 P36551,Q9UJS0,P33897,P05067,Q9NZ08,O96008,P49768,Q9Y619,P40939 9 |
| Neoplasm of fatty tissue 0.5427104258192825 1.4357956358945778 0.1510605020070876 1.0 0.3380637321553744 12 P29992,P03915,O14521,P21912,O95140 5 |
| Abnormality of the 3rd toe 0.542979401616301 1.435526619810529 0.151137088320397 1.0 0.3380736015724641 3 P02545 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6274763233082175 1.4344104501088208 0.151455167246735 1.0 0.3386233906366142 7 P02545,P50402 2 |
| Brisk reflexes 0.4102196577139863 1.4337479120656789 0.1516442141401683 1.0 0.3388843029735442 27 Q5HYK3,Q9Y5U9,Q99720,P20674,P49589,Q5JRX3,Q10713,Q8NI60,Q9NW15,P35637 10 |
| Neurofibrillary tangles 0.6270317840752363 1.4321726458794308 0.1520944180980561 1.0 0.339553353295989 7 P61916,Q9Y287,O96008,P05067 4 |
| Abnormal larynx morphology 0.4069050796581933 1.4299919231518103 0.1527193372158037 1.0 0.3402171702934025 32 P16435,Q9NZJ7,P21964,P07602,P02545,Q9UHX1,Q13510,Q14739,Q96HY6 9 |
| Bradycardia 0.5417463324586682 1.4299033108892245 0.1527447716467693 1.0 0.3402171702934025 12 Q9BTV4,P51970,P47985,O75880,P02545,O43772 6 |
| Retinopathy 0.4047981724952936 1.4296965497194032 0.1528041309634322 1.0 0.3402171702934025 33 O95202,Q3T906,P51648,Q9NZ08,O95169,Q9Y6B6,P40939 7 |
| Abnormal circulating acetylcarnitine concentration 0.6062492686586842 1.4294259235616795 0.1528818518757217 1.0 0.3402171702934025 8 P23786,P40939 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.5416489730254902 1.4293081564151755 0.1529156827193789 1.0 0.3402171702934025 12 O75431,Q8WVQ1,Q96DX4,P50542,O95831,Q96HY6 6 |
| Gowers sign 0.4713008762595477 1.427440852300573 0.1534528625700377 1.0 0.3408252461423718 19 P07196,Q13510,Q9H3H5,Q8TD16 4 |
| Ventricular escape rhythm 0.6453555708302328 1.4269514754063497 0.153593881924984 1.0 0.3408252461423718 6 P02545,P50402 2 |
| Abnormal circulating pyruvate family amino acid concentration 0.4351203853021053 1.426915666044121 0.1536042046555394 1.0 0.3408252461423718 24 Q9UJS0,P03915,P20674,O96000,Q9BUB7,Q5XKP0,O75880,Q8IUX1,Q9P0J0,P03886 10 |
| Abnormality of the biliary system 0.3151862879627091 1.4237030021792567 0.1545324642958048 1.0 0.3426195514715849 134 Q9H3H5,Q9Y4P3,Q6NUQ1,P07602,Q5XKP0,P40855,P09601,Q9Y5Y5,O95202,O75787,Q9UJS0,P35670,Q9NZJ7,Q14108,Q13510,P00374,Q9Y5U9,P47985,P14174,O75845,P02545,P21964,Q14739,O75381,P40939,P04062,O43681,Q96A33,Q9UBM7,Q10713,Q9UHJ6,P50542,P39210,Q16625,P04066 35 |
| Progressive inability to walk 0.434659279336493 1.4230284912114266 0.1547278961171285 1.0 0.3427839609491665 24 Q15043,Q92581,O14521,Q9H9S5,P21912 5 |
| Abnormal waist to hip ratio 0.6445073045385133 1.422849831977108 0.1547796920169699 1.0 0.3427839609491665 6 P18031,P31751,P43304,O76024 4 |
| Retinal coloboma 0.5399560119916159 1.418955809960694 0.1559118997115098 1.0 0.3449716294643907 12 Q9Y2B2,Q9UHX1 2 |
| Paresthesia 0.4258986059613282 1.4182176241967814 0.1561272379596319 1.0 0.3451769744895894 25 P29992,P05067,Q9NZ08,Q9H6K4,O15460,P54802,P07196,P06280,Q9NR77 9 |
| Widened cerebral subarachnoid space 0.6636401374457501 1.418122519426197 0.1561549976395047 1.0 0.3451769744895894 5 P00403,P03886 2 |
| Pedal edema 0.5826460610269222 1.4156072985062744 0.1568905132376827 1.0 0.3463616858372403 9 Q14108 1 |
| Molar tooth sign on mri 0.6038055717901424 1.4152519285890537 0.1569946439984519 1.0 0.3463791391845262 4 O43924 1 |
| Abnormal echocardiogram 0.6628623992762149 1.4145125503065124 0.1572114650722622 1.0 0.3466942101687741 5 P54098,P12235 2 |
| Vocal cord paralysis 0.4554891412718878 1.4089668163579043 0.1588449805502918 1.0 0.3494738792379366 21 Q8TB36,O14521,P02545,P50402,P21912,Q9NR77 6 |
| Abnormality of the musculature of the thigh 0.5810727030018417 1.4069450592961552 0.1594436808257877 1.0 0.3506263854403708 9 P07196,P02545,Q9BTV4,P50402 4 |
| Congestive heart failure 0.3426436438595349 1.404046133580794 0.1603051123405499 1.0 0.3521900310521274 71 Q9BTV4,O43819,Q9Y4P3,P03886,Q3T906,Q9NX14,P49768,O14521,Q9BUB7,P21912,P06280,P10253,P29992,P03915,P00403,Q70HW3,P02545,O75880,P40939,O95721,O95169,P16278 22 |
| Difficulty standing 0.6211660823531466 1.4026190567602872 0.1607304660128052 1.0 0.352793581445164 7 Q7RTS9 1 |
| Dysesthesia 0.6008052866153748 1.400789683227302 0.1612769746253652 1.0 0.3536616803114283 8 P33897,Q9NR77 2 |
| Abnormality of the posterior pituitary 0.6006259854865272 1.3998457791766254 0.1615595056393604 1.0 0.3540454962477067 8 Q9UHX1 1 |
| Abnormality of the anterior fontanelle 0.3837315992701604 1.398894700816025 0.1618445619113726 1.0 0.3542069557821573 40 P16435,Q6NUK1,P20674,Q32P28,P40855,Q9Y487,P50542,Q9Y5Y5,O75718,Q9Y619,Q15125,P51812,O75381 13 |
| Abnormal sternum morphology 0.3142728760051966 1.3981934748430211 0.162054975713314 1.0 0.3542069557821573 133 O43909,Q8NCH0,Q9BTV4,Q9Y4P3,Q9Y619,P08236,O95202,Q7RTS9,O14521,Q9NVI7,Q96DX4,Q9Y487,Q9UHX1,Q13510,P21912,P55795,Q7Z4L5,P51812,P78318,O75431,P02545,P50402,Q14739,P04062,Q02127,Q7LGA3,Q9H490,Q96A33,Q92581,P16278,O95831,Q9Y2B2 32 |
| Fasting hyperinsulinemia 0.6001011728021821 1.39655636419388 0.1625470199323835 1.0 0.3551167170537707 4 P40939 1 |
| Death in childhood 0.4058448226137797 1.3934597799945252 0.163480799290014 1.0 0.3567478239846562 28 Q3T906,O95721,O75431,P20674,Q96IX5,Q6NUQ1,Q9NPL8,Q9H9S5 8 |
| Abnormality of the liver 0.2738954185209457 1.389591926607612 0.1646528287221496 1.0 0.3573872146773383 352 O43909,O43676,P20674,O96000,P07602,P09601,Q03252,O43772,P03886,P08236,O75787,P50416,Q14108,Q13510,Q7Z4L5,Q96CU9,Q96RL7,P47985,Q96MW5,P14174,Q86Y39,Q9UBM7,P50542,P39210,P16278,Q01844,Q7KZN9,Q8N511,Q9H3H5,Q5XKP0,Q9Y5Y5,O95202,P23786,Q3T906,Q9NZJ7,P54802,O14521,Q9HC07,Q9Y6M9,O75845,P21964,O75381,P04062,O43681,Q96A33,Q96I36,Q9HC21,Q96J42,Q9BT22,Q9NPL8,P40855,P35670,Q9NVI7,Q9BUB7,P12235,P21912,P10253,O75431,Q8WTW3,P51798,Q14739,P40939,P15586,Q96HY6,P10619,Q9Y4P3,Q6NUQ1,Q9Y619,Q9UJS0,Q9NX14,Q8N183,Q9NWS8,Q8IUX1,P00374,Q9Y5U9,P03915,O75880,P02545,P35610,Q10713,Q9Y6B6,Q9UHJ6,Q16625,P04066 84 |
| Deep palmar crease 0.523783736397684 1.3866794989250129 0.1655395146748008 1.0 0.3591417724579747 13 O75431,Q9Y487 2 |
| Equinovarus deformity 0.6368502812089578 1.3857857214763236 0.1658123436293181 1.0 0.3595671377591325 6 Q96RL7,Q9NR77,P40939 3 |
| Flat forehead 0.6564415063889714 1.3846840264948397 0.1661491054883701 1.0 0.3600885910396881 5 Q93063,Q8NCH0 2 |
| Acetabular dysplasia 0.5489321677831305 1.3831239870094425 0.1666268518661611 1.0 0.3604761125437338 11 O43909,Q9Y584,P16278,Q96L58,P08236 5 |
| Generalized hyperpigmentation 0.5115951588506921 1.3814999604561953 0.1671252899726498 1.0 0.3606976503486364 14 P51648 1 |
| Abnormality of hair texture 0.3444383654198747 1.3793198922252996 0.1677961459654733 1.0 0.3613345420616088 62 Q3T906,P33897,Q6NUK1,Q96A33,P49589,Q9Y2B2,P54802,P51798,Q9NVI7,Q9Y487,O75844,Q15125,P15586 13 |
| Distal amyotrophy 0.3426615744182256 1.3785925219600312 0.1680204234847369 1.0 0.3615101808004169 67 Q9Y4W6,Q8TD16,P38935,P53007,Q9H0B6,P07196,Q99720,P06753,O14521,Q9NVI7,P21912,Q13510,P50570,Q96RL7,O15269,P02545,P35637,O95140,Q9NR77,Q8TB36,P39210,Q6UWE0 22 |
| Wide cranial sutures 0.561782004203202 1.3753349339669465 0.1690276308653684 1.0 0.3626159167317123 10 P54886,P02545,O75844,O75718,O43933,Q08AM6 6 |
| Alopecia totalis 0.6346099385853228 1.3749283231134193 0.1691536673908606 1.0 0.3626159167317123 6 P02545,O75844 2 |
| Axonal regeneration 0.5953899368564459 1.372755393337418 0.169828402214192 1.0 0.3637294174537154 4 P07196 1 |
| Abnormal large intestine physiology 0.4121226056115182 1.3713230051009884 0.1702742873457567 1.0 0.3645177156889966 26 O43681,P33897,Q9NZJ7,Q92581,P20700,P07602,O75298,P21964,Q8WWI5 9 |
| Abnormality of circulating enzyme level 0.3221812589065451 1.3702228695706398 0.1706173414350349 1.0 0.3649149313137056 113 Q9BTV4,Q13586,Q9H3H5,Q9Y4P3,P07196,O43772,P23786,P50416,P13473,Q9BPX6,P12235,P50570,Q9NWM8,P10253,Q9Y584,Q96RL7,Q9HC07,P47985,Q6ZXV5,Q96MW5,P42167,P02545,P50402,P40939,O43505,Q5JRX3,Q5JTV8,O14653,P39210,Q9H9S5 30 |
| Bone pain 0.4118845585283166 1.3691956008777075 0.1709381407677768 1.0 0.3649149313137056 26 P04062,P35670,Q9NZJ7,P07602,Q14108 5 |
| Broad palm 0.5947838604591645 1.3690659599546475 0.1709786576041017 1.0 0.3649149313137056 8 Q14739,P51812,Q7RTS9 3 |
| Disproportionate short trunk short stature 0.6143241248961707 1.3680896958308446 0.1712840016667227 1.0 0.3651771797027443 7 Q96DX4,Q9UHX1,Q7RTS9 3 |
| Progeroid facial appearance 0.5736120031029264 1.3658157389671368 0.1719968050862572 1.0 0.3661968341018313 9 O75431,P02545,O75844 3 |
| Hepatic cysts 0.6324719923147974 1.3645620300076675 0.1723907456180133 1.0 0.3668175157701977 6 O43909,Q7Z4L5 2 |
| Knee flexion contracture 0.3995860347599796 1.3595767257909248 0.1739639073964676 1.0 0.3688759358284537 32 P23786,Q3T906,Q7LGA3,Q8TD16,Q9H3H5,O14521,P21912,P37268 8 |
| Foot acroosteolysis 0.6309983896338069 1.3574141203507224 0.1746496640970607 1.0 0.3699314143851716 6 O75431,O75844 2 |
| Osteolysis involving bones of the feet 0.6309983896338069 1.3574141203507224 0.1746496640970607 1.0 0.3699314143851716 6 O75431,O75844 2 |
| Tinnitus 0.4731909067622911 1.3540622178602957 0.1757165287758864 1.0 0.3714007069894698 17 Q9H1P3,Q15043,O14521,Q9NR28,P21912,O95831,O95140,Q9NR77 8 |
| Progressive cerebellar ataxia 0.3670912495353181 1.353473861420793 0.1759042949925571 1.0 0.3714007069894698 44 Q7KZN9,O76024,Q8N183,O14773,Q9Y487,Q8NI60,P35637,Q9UBB4,Q9P0J0,Q9Y619,Q96CU9,Q8WWI5,Q9NW15 13 |
| Proximal upper limb amyotrophy 0.5917588480649485 1.3531103139511838 0.1760203911502653 1.0 0.3714007069894698 8 P02545,Q9BTV4,P50402 3 |
| Abnormality of the musculature of the upper arm 0.5917588480649484 1.3531103139511838 0.1760203911502653 1.0 0.3714007069894698 8 P02545,Q9BTV4,P50402 3 |
| Abnormality of the vasculature of the eye 0.3298138570712888 1.3530902246594303 0.1760268081803209 1.0 0.3714007069894698 84 Q96S66,P38435,Q9NZ08,P10619,P03915,Q9NZJ7,P21964,Q9Y4P3,O14521,P07602,Q14739,Q96HR9,P21912,Q13510,Q9NW15,P03886,P17900 17 |
| Aplasia involving bones of the lower limbs 0.5279353622947753 1.351399121075346 0.1765676152090591 1.0 0.3721863450981601 3 P02545 1 |
| Diffuse white matter abnormalities 0.5286141926021146 1.349447645328427 0.1771932259009638 1.0 0.3731893300899797 12 P16278,O43819,Q9H9S5,O95169 4 |
| Fetal akinesia sequence 0.628938532771206 1.3474187609418005 0.1778454016594144 1.0 0.374078756911349 6 P04062,Q96S52,P06753,Q9H3H5 4 |
| Abnormality of the parathyroid gland 0.4094461221013793 1.34738856327763 0.1778551220413267 1.0 0.374078756911349 26 P35670,P21964,P00403,P03886,P40939 5 |
| Appendicular hypotonia 0.5901563112872706 1.3462862075884738 0.1782102321553522 1.0 0.3745015697058993 4 Q3T906 1 |
| Widely patent fontanelles and sutures 0.6287014692305911 1.346268147386786 0.1782160544138449 1.0 0.3745015697058993 6 O75844 1 |
| Adrenocorticotropic hormone deficiency 0.4654002713704352 1.3452951400496334 0.1785299423986517 1.0 0.3746569221305113 2 O00170 1 |
| Abnormal urine hormone level 0.4654002713704334 1.3452951400496225 0.1785299423986552 1.0 0.3746569221305113 2 P10644 1 |
| Increased urinary cortisol level 0.4654002713704334 1.3452951400496225 0.1785299423986552 1.0 0.3746569221305113 2 P10644 1 |
| Dental crowding 0.3939615800028055 1.3448445040014472 0.1786754549383442 1.0 0.3747922844314983 34 Q01105,Q15233,P06753,O75431,Q96A33,P36543,Q9UBM7,P02545,O75844,P51812,Q15738,Q92643 12 |
| Adipose tissue loss 0.5696797995863533 1.3441047806804802 0.1789145064023976 1.0 0.3747922844314983 9 O75431,P02545,O75844 3 |
| Obstructive sleep apnea 0.527541688861014 1.3428619294206847 0.1793166858429633 1.0 0.3754668558285383 12 Q96A33,Q15233,Q3T906,P48444 4 |
| Posteriorly rotated ears 0.3119466847869537 1.33944933213421 0.1804244386785838 1.0 0.3768215223212646 131 O75419,Q8NCH0,Q96J42,Q6NUK1,Q9Y4P3,P40855,Q9Y5Y5,Q9Y619,O43683,O95202,P23786,Q15392,Q4J6C6,O43924,Q9UHX1,Q9HC07,Q8WTW3,Q8WVQ1,O75381,P37268,P04062,P16435,Q02127,Q7LGA3,Q9H490,P42892,O43505,Q9UBM7,Q10713,P50542,Q9H9S5 31 |
| Abnormality of the bladder 0.3085751044247043 1.3392427169109722 0.180491670253408 1.0 0.3768215223212646 137 O75419,Q8NCH0,Q9Y4P3,P07602,Q86XL3,P07196,Q9UJS0,Q99720,Q9NZJ7,O14521,P12235,Q9UHX1,P21912,P50570,P51812,Q12768,Q9NWM8,P35637,P21964,Q9NR77,O76024,P04062,P16435,O43681,P33897,Q92581,P20700,Q93063,O75298,Q8WWI5 30 |
| Abnormal atrioventricular valve morphology 0.3752325217441894 1.3391348023869014 0.1805267925040388 1.0 0.3768215223212646 41 O43909,Q12768,Q3T906,P04062,Q9NX14,P53701,O75431,Q9Y4P3,P02545,O75844,P55795,Q96L58,P21964,P51812 14 |
| Posterior subcapsular cataract 0.6082550779759879 1.3374142447841868 0.1810874572351253 1.0 0.3777542880687107 7 Q9H6K4 1 |
| Abnormality of the calf musculature 0.4651366953918178 1.3366303916874267 0.1813433135339099 1.0 0.3777542880687107 18 Q12768,P02545,Q9H9S5,P50570,Q9NR77 5 |
| Respiratory arrest 0.5683083589842238 1.3365275593596044 0.1813768987759458 1.0 0.3777542880687107 9 P13473,P23786,O43772,Q96L58 4 |
| Chorioretinal degeneration 0.58793296373209 1.3350330257179213 0.1818655376497047 1.0 0.3784354412932993 4 P40939 1 |
| Chorioretinal atrophy 0.58793296373209 1.3350330257179213 0.1818655376497047 1.0 0.3784354412932993 4 P40939 1 |
| Abnormality of the endometrium 0.5543170606717165 1.332705146123003 0.1826285838201862 1.0 0.3798544789581493 10 O14521 1 |
| Abnormal nephron morphology 0.3374280625360725 1.332118376811358 0.1828212925456664 1.0 0.3800865220967163 71 P23786,P03915,Q9NZ08,O75431,O43819,Q9Y4P3,O95169,O14521,P00403,Q14108,P02545,Q9UHJ6,O95470,P21912,P03886 15 |
| Abnormal anterior eye segment morphology 0.2732207981383848 1.3284103987794529 0.1840425660138278 1.0 0.3816092869450064 362 Q8NCH0,Q96J42,P10619,Q13586,Q6NUK1,P48444,Q9H3H5,Q9Y4P3,O15228,P40855,Q9Y5Y5,O00400,P03886,P08236,P08670,O95202,P23786,Q3T906,Q9UJS0,Q9NX14,P35670,P51648,O43683,Q9H6K4,O14521,Q9NVI7,Q9BUB7,Q96HR9,O75844,Q9UHX1,Q13510,P12235,P21912,Q15125,P51812,Q12768,Q03519,Q9NWM8,Q06136,P78318,Q9NZ08,P03915,Q6ZXV5,Q8WVQ1,O75845,Q9Y287,P00403,O60313,P02545,Q16625,Q9NW15,P21964,Q14739,O75381,Q9NR77,O76024,P04062,P53701,Q7LGA3,Q03518,Q2TAA5,P39210,O43505,Q86YV9,Q10713,Q15800,Q9UBM7,Q9H9S5,Q8WWV3,P50542,Q9Y2B2,P04066 72 |
| Feeding difficulties in infancy 0.2999969947254249 1.3273110150217509 0.1844058216211466 1.0 0.3816866409515911 190 O43819,P07602,O15121,Q9NPL8,P40855,Q9Y5Y5,Q9Y619,P23786,Q3T906,Q99720,O43924,P49589,Q9NZJ7,P50416,O14521,Q9NVI7,Q9Y487,Q9UHX1,P21912,Q7Z4L5,P51812,Q12768,P10253,Q9Y584,P47985,Q8WTW3,O75880,O60313,P35637,P21964,P37268,O75381,O76024,P40939,O43681,Q01105,Q9H490,P22695,O95169,Q92581,Q9UBM7,Q10713,P50542,Q9H9S5,O95831,Q5BJH7,Q9Y2B2 47 |
| Abnormality of the pharynx 0.3427477233941173 1.32683783189245 0.1845623328677788 1.0 0.381841858282984 57 Q03519,Q3T906,Q13277,Q03518,O15460,P54802,Q7RTS9,Q86YV9,Q96DX4,Q13510,P15586,P21964,P08236 13 |
| Abnormal lung lobation 0.4915585904700547 1.326385197506095 0.1847121393441864 1.0 0.3819830731515095 15 O43683,Q14739,P21964,Q9UHX1 4 |
| Aplasia hypoplasia of the phalanges of the toes 0.6437524915258497 1.325617268178783 0.1849665034526479 1.0 0.3822449468722236 5 Q9Y2B2 1 |
| Abnormality of adrenal physiology 0.3796154379984218 1.3255102129778933 0.1850019843209502 1.0 0.3822449468722236 39 Q13423,P33897,P40855,O95470,Q9Y5Y5,O75381 6 |
| Aplasia hypoplasia involving the metacarpal bones 0.3980113430090373 1.3213980225345032 0.1863686850618615 1.0 0.3843905419769967 29 O43909,P16435,Q96S52,Q32P28,Q8WVQ1,Q7RTS9,Q96DX4,Q93063,Q96L58,Q14739,P51812 11 |
| Raynaud phenomenon 0.6230570251460216 1.3188563737736636 0.1872171334074446 1.0 0.3858635508068552 6 Q14739,O75844 2 |
| Limitation of joint mobility 0.318595350432708 1.3185986670964327 0.1873033195616771 1.0 0.3858635508068552 114 O43909,Q9BTV4,Q8TD16,Q9BT22,Q9Y4P3,O15460,P23786,Q3T906,P51648,Q9H6K4,Q7RTS9,P54802,Q96DX4,O75844,O75431,P02545,P50402,P37268,O76024,P16435,Q7LGA3,P15586,Q9HC21 23 |
| Decreased number of large peripheral myelinated nerve fibers 0.6223551801324236 1.315445890387533 0.1883600912349985 1.0 0.3878147988328497 6 P07196,O15269 2 |
| Abnormality of the intrahepatic bile duct 0.6412700630731587 1.314045382358278 0.1888309324860175 1.0 0.3884427262909558 5 Q10713,P02545 2 |
| Toxemia of pregnancy 0.6216597227227457 1.31206602595062 0.1894978578547292 1.0 0.3893994257327283 6 Q14739,P02545 2 |
| Clitoral hypoplasia 0.6407092265181242 1.3114303727160557 0.189712402998402 1.0 0.3894009183367727 5 Q9Y619,O75419,Q9NP72 3 |
| Hypoplastic labia minora 0.6407092265181242 1.3114303727160557 0.189712402998402 1.0 0.3894009183367727 5 Q9Y619,O75419,Q9NP72 3 |
| Abnormal renal vascular morphology 0.6213702624318626 1.310659151614191 0.1899729451311909 1.0 0.3895192550086511 6 O14521 1 |
| Bilateral cryptorchidism 0.5222674826445654 1.3104464302191647 0.1900448552971347 1.0 0.3895192550086511 12 P78318,Q15233,O43924,Q96DA6,P37268 5 |
| Motor delay 0.2876620676621172 1.3102396700421526 0.1901147694953595 1.0 0.3895192550086511 261 O43909,Q8NCH0,Q8TD16,P48444,O43819,Q9H3H5,Q5T8D3,Q5XKP0,P07196,Q03252,P03886,Q5KU26,Q3T906,Q99720,Q4J6C6,Q9GZY8,P49589,Q7RTS9,O14521,Q9BPX6,Q96DX4,Q9Y487,P21912,Q13510,P50570,Q9NZ01,P51812,Q9NWM8,P10253,P03915,Q6ZXV5,Q8WTW3,Q8WVQ1,P00403,P51798,O60313,P02545,P35610,Q9NR77,P40939,P04062,P16435,Q01105,Q7LGA3,Q8TB36,Q9NVV0,P20700,Q10713,Q9H9S5,Q96N66,Q5BJH7 51 |
| Abnormal full field electroretinogram 0.6028097354572186 1.309857772549611 0.1902439546979928 1.0 0.3895192550086511 7 P50897,Q15067 2 |
| Abnormal light and dark adapted electroretinogram 0.6028097354572186 1.309857772549611 0.1902439546979928 1.0 0.3895192550086511 7 P50897,Q15067 2 |
| Abnormality of the synovia 0.322648799030319 1.3082451201778966 0.1907901826692406 1.0 0.3899679771818399 100 O43909,Q8TD16,Q6NUQ1,Q03252,P08236,O95202,Q3T906,Q7RTS9,O75844,Q9UHX1,Q9Y487,Q9Y584,Q8WTW3,Q8WVQ1,P02545,P16435,Q02127,Q96A33,Q9UBM7,Q93063,Q9H9S5,P16278,O75718,Q9Y2B2 24 |
| Microretrognathia 0.4553957306835029 1.3082221319367693 0.1907979774460304 1.0 0.3899679771818399 19 Q8NCH0,Q15427,Q8WVQ1,Q92794,P53007,Q9BUB7,Q9UHX1,Q16625,Q15125,Q15738 10 |
| Intellectual disability progressive 0.4666991552063123 1.307336983491222 0.1910982889705013 1.0 0.3899679771818399 17 Q9NX14,O95721,P53701,Q05086,Q92581,O95831,Q15067,O43933 8 |
| Abnormality of adrenal morphology 0.4049224027646135 1.3068635203785992 0.1912590673875838 1.0 0.3900119597925305 26 P16435,Q12768,P33897,O14521,O75844,P21912 6 |
| Abnormality of skin pigmentation 0.3008299930095226 1.3028256190383938 0.1926343022642069 1.0 0.3917929100328031 158 P07602,P03886,Q9NP58,Q8IZA0,Q9NX14,P51648,Q9NZJ7,O14521,O75844,P21912,Q15125,Q06136,P03915,O75431,Q9Y2Q5,P00403,P51798,P02545,P21964,Q14739,P04062,Q13423,P33897,Q7LGA3,P16615 25 |
| Orthostatic hypotension 0.4768145511391177 1.2994331168916902 0.1937953326901769 1.0 0.3939832197572867 16 P04062,P07602,O43681,Q9NZJ7 4 |
| Renal dysplasia 0.4652685250903318 1.297025622128686 0.1946223710128496 1.0 0.3951084824483136 17 Q9NWS8,O43505,Q9H9S5,O95169 4 |
| Abnormality of the diencephalon 0.3891121335869578 1.2968399948743623 0.1946862462618932 1.0 0.3951084824483136 34 O43924,Q9GZY8,Q9Y4P3,O95169,Q9H9S5 5 |
| Hyperactive deep tendon reflexes 0.5479821129005649 1.2964651069888524 0.1948152939152123 1.0 0.3951991497179968 10 O14521,Q9NR77,P21912 3 |
| Flattened epiphysis 0.5797177893002028 1.2934139473473274 0.1958679288149087 1.0 0.3968189353672287 4 Q8WVQ1 1 |
| Transposition of the great arteries 0.599327468854605 1.292220659400033 0.196280739110302 1.0 0.3970591779377904 7 Q9Y2B2,O75844 2 |
| Abnormality of facial soft tissue 0.302903226793683 1.2919922744245032 0.1963598200421716 1.0 0.3970591779377904 142 O43819,Q9H3H5,Q9Y4P3,P40855,Q9Y5Y5,P07196,Q03252,Q3T906,O14521,O75844,Q9UHX1,Q13510,P12235,P50570,P21912,P51812,Q12768,P10253,P51798,O60313,P02545,O75381,P04062,P16435,P33897,Q15043,Q9H9S5 27 |
| Developmental regression 0.3003715069545881 1.2918463575527128 0.1964103576605167 1.0 0.3970591779377904 146 Q9H2C2,O75503,O43819,Q9Y4P3,P07602,P40855,O95470,Q9Y5Y5,P03886,O14773,Q96IX5,Q9GZY8,Q9NZJ7,O14521,P21912,Q13510,P55795,Q9NZ08,P03915,Q96MW5,Q8NI60,P13073,O75381,O76024,Q9NX46,O43681,Q15043,O95169,Q92581,P50542,P16278,P17900 32 |
| Dysarthria 0.2984384603423403 1.2911247850701009 0.1966604109381178 1.0 0.397393168608345 188 Q7KZN9,Q8IV08,Q9Y4W6,O75503,O43819,Q9Y4P3,P07602,Q5T8D3,O15121,Q5XKP0,Q9Y5Y5,Q9UBB4,P07196,P61916,O75027,P35670,P51648,Q8N183,O14773,Q15233,Q9H6K4,P49589,Q9NZJ7,P49768,Q14108,P12235,Q96CU9,Q96RL7,Q9NW15,P35637,O76024,Q9NX46,P04062,O43681,P33897,O43292,P20700,Q10713,O14653,Q6DKK2,Q9P0J0,P15586,Q8WWI5 43 |
| Lipoma 0.6172124865638234 1.2904433986587946 0.1968967521176554 1.0 0.397699175040577 6 O14521 1 |
| Acanthocytosis 0.6168700040976507 1.2887775910802162 0.1974754186802987 1.0 0.3985242831100901 6 Q9Y6B6,O75845 2 |
| Abnormality of the odontoid process 0.5591669662419726 1.2859606613856116 0.1984567911204831 1.0 0.3999877838245881 9 O43909,Q3T906,Q7RTS9,P16278,P08236 5 |
| Distal lower limb amyotrophy 0.485525269398366 1.2856191575940454 0.1985760074319564 1.0 0.4000559220693695 15 Q8TD16,P02545,Q9H0B6,P07196,O95140,Q9NR77 6 |
| Severe global developmental delay 0.3251933371865725 1.2842720105182983 0.199046796651841 1.0 0.4003156700374509 84 O43909,P51970,Q9BT22,O15121,P40855,Q9Y5Y5,P03886,Q3T906,Q7RTS9,P51812,P03915,Q96MW5,O75381,Q7LGA3,Q9H490,Q96A33,Q92581,O00584,P50542,Q9HC21 20 |
| Muscular ventricular septal defect 0.5775811793941515 1.2825806765165595 0.1996390236365788 1.0 0.4013344148985988 4 Q96DA6,Q86W42 2 |
| Constriction of peripheral visual field 0.4252709089267622 1.2806355393494722 0.2003217108903838 1.0 0.4025340599787894 23 O60313,Q9H061,O75381,Q9Y5Y5 4 |
| Developmental cataract 0.3363582166192187 1.279394405458718 0.2007582029536008 1.0 0.4027395382705215 64 P03915,Q9H3H5,O14521,Q9NVI7,P00403,Q15800,P21912,O00400,P03886,O76024 10 |
| Multiple lipomas 0.5966464136378697 1.278634368762795 0.2010258412631254 1.0 0.4027395382705215 7 P03915,O95140,P29992 3 |
| Hypotension 0.3932249077181516 1.2764423747822653 0.2017991849237688 1.0 0.4041160248751317 29 P04062,Q13423,O43681,Q9NZJ7,P20700,P07602,P35610 7 |
| Abnormal circulating non proteinogenic amino acid concentration 0.5567722356665449 1.272698129257228 0.203125181730063 1.0 0.4064239005654059 9 Q9UJS0,P03915,P05067,Q9Y619,P03886 5 |
| Subcapsular cataract 0.5763025778136617 1.2714194372755572 0.2035794713211554 1.0 0.4068619553485449 8 Q9H6K4 1 |
| Spastic diplegia 0.4090191997734106 1.27134848172904 0.2036047018225852 1.0 0.4068619553485449 25 P07602,Q99720,P51648 3 |
| Perseveration 0.5433928836617147 1.270180039901294 0.2040205058860786 1.0 0.4070884375513874 10 P61916,Q13501,Q15233,P49768,P35637 5 |
| Delayed ability to roll over 0.6318405373129214 1.270049192606115 0.2040671079129923 1.0 0.4070884375513874 5 Q5BJH7 1 |
| Ptosis 0.2864017125704462 1.2695653398004765 0.2042395021873955 1.0 0.4070884375513874 257 Q7KZN9,Q9Y4W6,Q9BTV4,Q9H2C2,O43676,O96000,O43819,O15460,Q9H3H5,P07602,Q5T8D3,Q9NPL8,P40855,O95470,Q9Y5Y5,P07196,P03886,O95202,Q9NX14,Q8N183,Q4J6C6,Q9NZJ7,Q9BPX6,Q96DX4,P12235,Q9UHX1,Q8IUX1,P50570,Q15125,Q9Y5U9,Q9Y6M9,O75845,O60313,P02545,P50402,Q9NW15,P21964,O75381,O76024,P04062,Q86Y39,Q7LGA3,Q96A33,O95169,Q10713,Q9P0J0,Q9Y2B2 47 |
| Impaired glucose tolerance 0.6128000709827841 1.2689752698544274 0.204449884452369 1.0 0.4073344358889393 6 O76024 1 |
| Eeg with spike wave complexes 0.4720164360889483 1.2659410076906914 0.2055342034077678 1.0 0.4091467100560921 16 Q14108,Q9Y2B2,O75503 3 |
| Hyperorality 0.6119639998000516 1.2649059504798554 0.2059050440237668 1.0 0.4092718239757271 6 P49768,Q05086,Q13501 3 |
| Phocomelia 0.5124864277958738 1.264722540805202 0.2059708067640131 1.0 0.4092718239757271 3 Q6KC79,Q15427 2 |
| Severe failure to thrive 0.5740554955674222 1.2646974796943655 0.2059797937741616 1.0 0.4092718239757271 4 O75844 1 |
| Lipodystrophy 0.3707230500051647 1.259827940703939 0.207731438041653 1.0 0.4121194645434574 40 Q9BTV4,Q6NUK1,O75431,Q9H3H5,P42167,P02545,O75844,Q9Y487,P50402,P04066 10 |
| Hypomelanotic macule 0.4515603799186075 1.258376800016193 0.2082555181318548 1.0 0.4127562770795053 2 P49815 1 |
| Glomerulopathy 0.513733664882086 1.2579049042402743 0.2084261498601405 1.0 0.4127983450084135 12 Q9NZ08,Q03252,Q14108,P02545 4 |
| Retinal vascular tortuosity 0.4543206057082545 1.2570067261852136 0.2087511999949907 1.0 0.4132673798717399 18 P03886,Q9Y4P3,P21964 3 |
| Abnormality of the upper arm 0.4147013968056363 1.2539499377509398 0.209860202297107 1.0 0.4149367613168633 24 P16435,Q3T906,Q9BTV4,O15228,Q7RTS9,P02545,P50402 7 |
| Abnormality of the foot musculature 0.5104863160863778 1.2534860106257164 0.2100288870752695 1.0 0.4150950662702796 3 P50570 1 |
| Broad clavicles 0.510314875135722 1.2525227453866554 0.2103794455369241 1.0 0.4152622515360103 3 Q15643,A1X283 2 |
| Abnormal morphology of myocardial trabeculae 0.6090595205268595 1.250765898177283 0.2110199000425971 1.0 0.415821923175151 6 O14521,Q15233,Q86YT6 3 |
| Muscle spasm 0.3324206800813385 1.2452063614792204 0.2130559048345017 1.0 0.4187804692592557 68 P05023,Q13586,Q9H3H5,Q15165,Q92804,P07196,Q9NP58,P23786,Q9H6K4,P13473,P12235,P06280,Q12768,P29992,P35637,Q9NR77,P40939,P04062,O75298,Q9H9S5 20 |
| Abnormality of the gastric mucosa 0.479422977865183 1.2443168653144454 0.2133829663008797 1.0 0.4192424528092162 15 P04062,Q14739,O76024 3 |
| Fat malabsorption 0.5388400237399122 1.2440804624436432 0.2134699508859907 1.0 0.4192424528092162 10 Q96A33,Q14739,Q9Y6B6 3 |
| Abnormal systemic blood pressure 0.3157460290548938 1.2430298464819158 0.2138568352559535 1.0 0.4198262432266917 109 Q9Y4P3,P07602,O43772,P03886,Q9NP58,Q9NZJ7,O14521,Q9BUB7,O75844,P21912,P03915,P00403,P02545,P35610,P21964,P04062,P16435,Q13423,O43681,P42892,P20700,Q10713,Q9UHJ6 23 |
| Long toe 0.5249720807652305 1.2411374585989936 0.2145549737992085 1.0 0.4208018201451022 11 Q9UHX1 1 |
| Calvarial hyperostosis 0.6255635577338885 1.2407326537392984 0.2147045272511956 1.0 0.4208018201451022 5 Q15043 1 |
| Chronic pulmonary obstruction 0.5890170491004708 1.2399426674412526 0.2149966007580181 1.0 0.421181128377481 7 P09601 1 |
| Enthesitis 0.4483039348711073 1.2378997833406624 0.2157532226921787 1.0 0.4221337072222913 2 P17706 1 |
| Oligoarthritis 0.4483039348711073 1.2378997833406624 0.2157532226921787 1.0 0.4221337072222913 2 P17706 1 |
| Hypochromic microcytic anemia 0.5684928730680641 1.2364674979538992 0.2162848398661272 1.0 0.4229971565482003 4 O75027,Q9UHJ6 2 |
| Diffuse cerebral atrophy 0.4458089379839634 1.2360214083320658 0.2164506060650619 1.0 0.4231446739602463 19 P07602,O75787,Q10713,Q9NZJ7 4 |
| Slow decrease in visual acuity 0.5372236389756851 1.234809575179547 0.2169013829274306 1.0 0.4238490102762141 10 P03915,P03886,O95140 3 |
| Abnormality of the palm 0.3008362482960049 1.233743155349005 0.2172986274288495 1.0 0.4244481946942165 140 Q8NCH0,Q6NUK1,Q9H3H5,P40855,Q9Y5Y5,Q9Y619,O95202,Q7RTS9,O14521,Q96DX4,Q9Y487,Q9UHX1,P21912,P51812,Q06136,O75431,P42167,P02545,Q14739,O75381,P16435,O95721,P16615,Q96I36,Q9Y2B2 25 |
| Upper limb spasticity 0.5495053660770862 1.232419295242751 0.2177924968251432 1.0 0.4252355377778119 9 Q12768,P35637,Q99720 3 |
| Insulin resistant diabetes mellitus 0.54942915943374 1.2319966601748715 0.2179503317147346 1.0 0.4253663973965905 9 O75431,P02545,O75844 3 |
| Abnormal heart valve morphology 0.3194954338852317 1.2299372678069165 0.2187205971345056 1.0 0.4263367777686327 92 O43909,Q8NCH0,Q6NUK1,Q9Y4P3,Q96L58,P08236,O95202,Q3T906,Q9NX14,Q15233,Q9BUB7,O75844,Q9UHX1,P55795,P51812,Q12768,O75431,Q6ZXV5,P51798,P02545,P21964,P37268,P04062,P53701,P16278,Q9Y2B2 26 |
| Abnormal epidermal morphology 0.4448861379843706 1.2290605049577803 0.2190491216462309 1.0 0.4267995365186961 19 Q06136,P16615,P02545,P78536,O75844 5 |
| Muscle fiber inclusion bodies 0.4987774404859832 1.2282046962421864 0.2193701362181079 1.0 0.4269686263527421 13 P07196,O43676,Q9H3H5 3 |
| Muscle fiber atrophy 0.4116594720359828 1.2280564135970224 0.2194257914749016 1.0 0.4269686263527421 24 P23786,Q9BTV4,Q99720,Q96RL7,Q13586,P06753,P53007,P02545,P50402,P35637 10 |
| Flat occiput 0.42583866349344 1.2277952316897305 0.2195238461138118 1.0 0.4269686263527421 22 O96011,O00754,Q13608,Q05086,P56589,Q9BUB7,Q9Y2U8,P40855,P50542,Q9Y5Y5,O75381 11 |
| Absent septum pellucidum 0.3777202828312983 1.227587645760135 0.2196018018270455 1.0 0.4269686263527421 36 O95202,Q15392,Q9NX14,P53701,P51571,O43505,Q96N66,Q9NZ01 8 |
| Aplasia hypoplasia of the sternum 0.6224877783813206 1.2263605545655132 0.2200630230125844 1.0 0.4275208078902311 5 Q08AM6,P98175,Q6KC79,Q9Y619 4 |
| Bilateral tonic clonic seizure with generalized onset 0.5085804643960554 1.2261307250947886 0.2201494851902727 1.0 0.4275208078902311 12 P04062,Q9Y320,Q13510,Q92581 4 |
| Abnormal middle phalanx morphology of the hand 0.5483091627203679 1.225784757512695 0.2202796846441701 1.0 0.4275963708550738 9 Q15233,P02545,Q9UHX1 3 |
| Dysmetric saccades 0.5858838671377627 1.2240421688045195 0.2209363202718546 1.0 0.4285158278067772 7 O14773,Q9NW15 2 |
| Inverted nipples 0.5082015241982712 1.223793030652486 0.2210303140954077 1.0 0.4285206917313285 12 Q96AA3,Q2TAA5,P56589,Q9H3H5,Q15067 5 |
| Abnormal lumbar spine morphology 0.4977419340075564 1.221621587748315 0.2218507611013969 1.0 0.4292472088258658 13 P04062,O43909,Q3T906,O75845,P51812 5 |
| Cavernous hemangioma 0.5475548903813984 1.2216007777048123 0.2218586344025697 1.0 0.4292472088258658 9 O14521,P50570,Q3T906 3 |
| Supernumerary tooth 0.5475501986938895 1.2215747514607425 0.2218684814901104 1.0 0.4292472088258658 9 Q9UHX1 1 |
| Type 1 muscle fiber atrophy 0.5668400382091406 1.2212986545831188 0.2219729626376891 1.0 0.4292472088258658 8 P02545,Q9BTV4,P50402 3 |
| Abnormal thorax morphology 0.2834072912242003 1.220378398981132 0.2223214621288536 1.0 0.4292472088258658 263 O43909,Q8NCH0,Q9BTV4,Q8TD16,Q9H3H5,Q9Y4P3,P07196,Q9Y619,P08236,O95202,Q3T906,P51648,Q7RTS9,P54802,O14521,Q9NVI7,Q96DX4,O75844,Q9UHX1,Q13510,Q9Y487,P55795,P50570,P21912,Q7Z4L5,Q15125,P51812,Q12768,P78318,O75431,Q32P28,Q6ZXV5,Q8WTW3,O75845,Q8WVQ1,P51798,O60313,P02545,P50402,P21964,Q14739,P04062,P16435,Q02127,Q7LGA3,Q9H490,Q96A33,Q92581,Q9UBM7,Q93063,P50542,P16278,O95831,O75718,Q9Y2B2,P15586,Q96HY6,P04066 58 |
| Spinal cord lesion 0.5342187873955002 1.2175690468365612 0.223387782953641 1.0 0.4301728534947672 10 Q12768,O75298,O00400 3 |
| Bifid scrotum 0.6022241328173229 1.2174707610033304 0.2234251545585266 1.0 0.4301728534947672 6 P16435,Q9UBM7 2 |
| Severe short stature 0.3865566753174991 1.217421844645701 0.2234437558823161 1.0 0.4301728534947672 31 Q15392,O75419,Q9NX14,P53701,P10619,Q8WVQ1,Q7RTS9,O14521,P21912,P16278,Q9Y619,Q96HY6 12 |
| Gastrostomy tube feeding in infancy 0.3742260698849955 1.216648433349526 0.2237380066571834 1.0 0.4303855536682741 37 Q3T906,Q01105,O15121,Q9Y2B2,P37268 5 |
| Abnormal esophagus physiology 0.2843451465354348 1.2150871345250054 0.224332859942353 1.0 0.4310181964722132 254 Q9Y4W6,Q9H2C2,Q6NUK1,O43819,Q9Y4P3,P07602,Q9Y5Y5,Q9UBB4,Q9Y619,P03886,Q15067,O95202,P61916,Q8IZA0,Q99720,P35670,Q8N183,P05067,Q15233,P51571,Q9GZY8,Q9NZJ7,P49768,O14521,Q14108,P12235,Q9UHX1,Q13510,P21912,P55795,Q12768,Q9Y584,Q96RL7,P03915,Q6ZXV5,O15269,O60313,P35637,P21964,O14678,Q14739,Q9NR77,O76024,P04062,P16435,P33897,Q01105,Q96A33,O95169,P20700,Q92581,Q9UBM7,Q93063,P15586,Q8WWI5 55 |
| Atrial arrhythmia 0.5337464632231712 1.2148583996310305 0.2244201025560499 1.0 0.4310181964722132 10 P02545,P12235,P50402 3 |
| Hypoplasia of the iris 0.565572129132528 1.214578258214022 0.2245269853527327 1.0 0.4310181964722132 8 O95202,Q7LGA3 2 |
| Hyperconvex fingernails 0.6014540762284131 1.213718486893162 0.2248552423975132 1.0 0.4314217684419156 6 O95202 1 |
| Impaired temperature sensation 0.5832658514940896 1.2107521466052324 0.2259904102806129 1.0 0.4329600672822876 7 O15269,Q9NR77 2 |
| Reduced consciousness confusion 0.2976846633479686 1.2093511949019595 0.2265279503124559 1.0 0.4336154144926619 143 O43676,P20674,O96000,O96008,O43819,P07602,Q9NPL8,O43772,P03886,Q9Y619,P23786,Q9UJS0,Q9NX14,P35670,Q8N183,Q96IX5,Q9NZJ7,P50416,Q9NWS8,P12235,Q8IUX1,Q9NZ08,P03915,Q9Y6M9,P00403,P35610,P40939,P04062,Q13423,O43681,Q86Y39,P33897,O95169,Q9H9S5,Q9HC21 35 |
| Intrauterine growth retardation 0.2881351648435478 1.2085584457125869 0.2268325290615829 1.0 0.4340210645933229 218 Q9BT22,Q6NUK1,O43676,O96000,Q9NPL8,P51572,Q9Y619,P03886,O95202,O75027,Q15392,Q9UJS0,Q9NX14,Q8N183,O43924,P49589,O14521,Q9BUB7,Q6P4A7,O75844,Q9UHX1,Q9Y487,P21912,Q8IUX1,Q12768,Q9Y584,Q9Y6M9,Q8WTW3,Q8WVQ1,O75845,P51798,O75880,P21964,P37268,P40939,P04062,Q86Y39,Q5BJH7 38 |
| Aplasia hypoplasia involving the carpal bones 0.5642422488473803 1.2075284385100344 0.2272286997947168 1.0 0.434392797046919 8 Q3T906,Q7RTS9 2 |
| Carpal bone hypoplasia 0.5642422488473803 1.2075284385100344 0.2272286997947168 1.0 0.434392797046919 8 Q3T906,Q7RTS9 2 |
| Abnormality of the larynx 0.3395477287223448 1.2070529357892772 0.2274117583093604 1.0 0.4344195252532807 52 O43909,P16435,Q9NZJ7,P21964,P07602,Q15165,Q9UBM7,P02545,Q9UHX1,Q13510,P35637,Q14739,Q96HY6 13 |
| Abnormality of the adrenal glands 0.331324614604427 1.2059510938353102 0.2278363481731062 1.0 0.4348758984689608 62 Q12768,P16435,Q13423,P33897,O14521,P40855,O75844,P21912,O95470,Q9Y5Y5,O75381 11 |
| Abnormality of chorioretinal pigmentation 0.617165623290665 1.201483884093514 0.2295635542505953 1.0 0.4374595964645194 5 Q5XKP0 1 |
| Abnormality of the calf 0.3283960176316183 1.200818576740749 0.2298215841932129 1.0 0.4376143140013857 70 O75419,Q9Y4P3,Q9Y619,P08236,Q7RTS9,Q96DX4,O75431,Q32P28,Q8WVQ1,P51798,Q9NR77,P16435,Q7LGA3,Q9NVV0,Q93063,P16278,O95831,O75718,Q96HY6 19 |
| Fetal ultrasound soft marker 0.3928418609250568 1.1982565734826855 0.2308171471117728 1.0 0.4391338412150868 26 Q12768,P16435,Q9Y2B2,P40855,P50542,Q9Y5Y5,Q15125,O75381 8 |
| Supraventricular tachycardia 0.5607488255584325 1.1971448292293403 0.2312501094065078 1.0 0.4397789331953238 4 P02545 1 |
| Specific learning disability 0.3206569267235247 1.1924391376426615 0.2330891018782332 1.0 0.4423781820087701 82 Q3T906,P33897,Q9NX14,P53701,P03915,Q13586,Q9H6K4,O43505,O75845,P21964,P00403,Q9BPX6,Q10713,Q9H9S5,Q9Y619,P03886 16 |
| Hypokinesia 0.4717252624926288 1.1921332264195363 0.233209010554078 1.0 0.4424264906582834 15 P04062,Q2TAA5,P06753,P13473,Q99567,P12235,Q9Y3D3,O95831 8 |
| Extrapyramidal muscular rigidity 0.5969218797297302 1.191630113791608 0.233406311804651 1.0 0.4426215240862288 6 Q9BPX6,Q9H6K4 2 |
| Acne inversa 0.6148848212967675 1.1908206382281772 0.2337240050550968 1.0 0.4430446133865129 5 Q92542 1 |
| Facial erythema 0.4991856677524427 1.1899630017237746 0.2340609342057442 1.0 0.443325798037464 3 P40818,O00170 2 |
| Optic nerve hypoplasia 0.433821811734233 1.189742631397432 0.2341475639495365 1.0 0.443325798037464 20 P07196,Q9NVI7,P37268,Q9UHX1 4 |
| Falls 0.5293675284769931 1.189720457755927 0.2341562818840064 1.0 0.443325798037464 10 O75787,Q96RL7,P54886,Q8WVX9,Q5T8D3,P21912,Q01082 7 |
| Abnormality of the brainstem white matter 0.6144641426425618 1.1888537542108413 0.2344972209388647 1.0 0.4436301870318752 5 P20700,P33897 2 |
| Hypointensity of cerebral white matter on mri 0.5789486879223164 1.1888302341472574 0.234506478029659 1.0 0.4436301870318752 7 P07602 1 |
| Limited wrist movement 0.5605898098885257 1.1881621096145103 0.2347695484257665 1.0 0.4437789178693939 8 Q3T906,Q9H6K4,O75844 3 |
| Finger swelling 0.4401628222523922 1.1866863275672563 0.2353513700288934 1.0 0.4446333916046673 2 P28070 1 |
| Abnormal tarsal ossification 0.4985735880514046 1.1865213276099256 0.2354164840263823 1.0 0.4446333916046673 3 Q15125 1 |
| Abnormal 3rd finger morphology 0.4398914518317667 1.1849789698580435 0.2360257619427395 1.0 0.4452455372290744 2 Q9Y3E5 1 |
| Abnormal adipose tissue morphology 0.3287047358457544 1.184566641034174 0.236188833074562 1.0 0.4453737899038843 66 Q9BTV4,P29992,P03915,Q2TAA5,Q6NUK1,O75431,Q9H3H5,P49768,O14521,P42167,P02545,Q9Y487,P21912,O75844,P50402,Q03252,O95140,P04066 18 |
| Narrow nasal ridge 0.5596112502955644 1.1829725425842958 0.2368200294876494 1.0 0.4456916581194221 8 O75431,O75844 2 |
| Gingival bleeding 0.5015399523719183 1.1826753722833845 0.2369378282506002 1.0 0.4456916581194221 12 Q14108,Q8NI22 2 |
| Proportionate short stature 0.3579442830362089 1.1818380301566092 0.2372699746872013 1.0 0.4459761482483351 42 Q15392,O75419,Q9NX14,P53701,P10619,Q8WVQ1,Q7RTS9,O14521,P21912,Q96L58,P16278,Q9Y619,Q14739,Q96HY6,P40939 15 |
| Generalized amyotrophy 0.3828093563411748 1.181440830499057 0.2374276458866133 1.0 0.4460934991307248 31 P22626,P54098,Q13501,P54886,P06753,P49589,O43819,P13473,Q9Y2U8,P02545,Q99567,Q03252,P35637,Q96DA6 14 |
| Impaired distal tactile sensation 0.5570154125918045 1.178181850232901 0.2387241166379541 1.0 0.4476316102210476 4 O15269 1 |
| Lactic acidosis 0.314047586395811 1.1777083442936778 0.2389128991798526 1.0 0.4478063304355461 101 O43676,O96000,O43819,Q9NPL8,Q5XKP0,P03886,Q9UJS0,Q9NX14,Q8N183,Q4J6C6,O14521,Q9NWS8,Q9BUB7,Q6P4A7,P12235,Q8IUX1,Q96CU9,P03915,P47985,Q9Y6M9,P00403,Q70HW3,Q8NI60,P40939,Q86Y39,Q10713,P39210,Q9HC21 28 |
| Kyphosis 0.2938953040148031 1.176527098355145 0.2393843103308888 1.0 0.448213979228279 173 O43909,Q8NCH0,Q9BTV4,Q8TD16,Q9BT22,Q9Y4P3,P08236,Q5KU26,O95202,Q3T906,P51648,Q7RTS9,O14521,Q14108,Q96DX4,O75844,Q9UHX1,Q9Y487,P21912,Q15125,P51812,Q12768,Q9NWM8,Q9HC07,Q32P28,Q8WTW3,Q8WVQ1,P02545,P50402,Q14739,Q9NR77,P04062,Q7LGA3,Q8TB36,Q9UBM7,Q9H9S5,P16278,P04066 38 |
| Ventricular tachycardia 0.480276787353256 1.176504059723062 0.239393511096104 1.0 0.448213979228279 14 P23786,O43772,Q9NX14,Q9BTV4 4 |
| Short nail 0.593648516761939 1.175673346063295 0.2397254335942111 1.0 0.4482835467163812 6 O75844,P02545,Q9Y487 3 |
| Ureteral duplication 0.5390242510254224 1.174256968091228 0.2402921138869245 1.0 0.4490925591116446 9 Q96J42,P23786,O75844 3 |
| Myalgia 0.3388006160683112 1.1731544999199826 0.2407338544854997 1.0 0.449421034041483 50 P23786,Q9NZ08,Q13586,P21964,P20700,P02545,P12235,Q8IUX1,O60313,Q9H9S5,P50570,Q14739,P40939 13 |
| Severe varicella zoster infection 0.4956568946796958 1.1701206259462678 0.2419524291195087 1.0 0.4509769908459128 3 O95394,Q9H0U3 2 |
| Hyperreflexia in upper limbs 0.5129372601179558 1.1695657389916203 0.2421757716320891 1.0 0.4512137288483315 11 O14521,O75298 2 |
| Short proximal phalanx of finger 0.4360922659430282 1.1610763573103604 0.2456108485515513 1.0 0.456705523864814 2 P42345 1 |
| Limited hip movement 0.4356739599045753 1.159485663588741 0.2462582769301304 1.0 0.4573646983111543 19 Q3T906,Q96AY3,Q7LGA3,Q8TD16,P06753,Q969X5,P02545,O75844,Q93063 9 |
| Moderate albuminuria 0.4935330105507848 1.1581780101225232 0.2467914001725888 1.0 0.4581731741610804 3 Q9Y5U9 1 |
| Anophthalmia 0.4871907097686904 1.154483319647457 0.2483020732801777 1.0 0.4602501374316811 13 Q96J42,O43505,Q9NX14,P53701 4 |
| Abnormality of pelvic girdle bone morphology 0.2928088110190726 1.1541660323089564 0.2484321056884622 1.0 0.4603069553183374 171 O43909,Q8TD16,Q15907,Q9Y4P3,O15228,Q6NUQ1,Q03252,Q9Y619,P08236,O95202,Q8IZA0,Q3T906,Q7RTS9,Q9NVI7,Q96DX4,O75844,Q9UHX1,Q9Y487,Q15125,Q7Z4L5,P51812,Q12768,Q9Y584,O75431,Q8WTW3,Q8WVQ1,P51798,P02545,Q14739,P16435,Q02127,Q7LGA3,Q96A33,Q9UBM7,Q93063,Q9UHJ6,P50542,Q9H9S5,P16278,O95831,O75718,Q9Y2B2,Q96HY6 43 |
| Severe expressive language delay 0.551890579584678 1.152149752308281 0.2492595415948124 1.0 0.4610315029083011 4 Q96DX4 1 |
| Abnormal arterial physiology 0.3800005041851553 1.1517745894667757 0.2494137122906992 1.0 0.4610315029083011 29 Q9NWM8,P05067,Q9NZ08,Q9Y4P3,O15460,P02545,O75844,Q14739 8 |
| Abnormality of somatosensory evoked potentials 0.5885702404862523 1.1509147938599336 0.2497672909769162 1.0 0.4615029550042901 6 P33897,Q9NQZ5 2 |
| Esodeviation 0.3519558869395049 1.1475958074778023 0.2511354613473824 1.0 0.463316192970074 43 P04062,O43924,Q96MW5,Q8N766,P20700,Q9NVI7,Q9UHX1,P50542,Q9Y2B2,Q5KU26 10 |
| Abnormal diaphysis morphology 0.3168349618644612 1.1471500395394283 0.2513196158026407 1.0 0.4634571182754209 83 O75419,Q96J42,Q9Y4P3,Q9Y619,P08236,Q7RTS9,Q96DX4,Q9Y487,P51812,Q9HC07,O75431,Q32P28,Q8WVQ1,P51798,Q14739,Q9NR77,P16435,Q7LGA3,Q9NVV0,Q93063,P16278,O75718,Q96HY6 23 |
| Sclerocornea 0.4755409466657685 1.1453904395461203 0.2520474568934367 1.0 0.4644336302473871 14 O95202,Q9NX14,P53701,Q96J42,Q6NUK1 5 |
| Generalized abnormality of skin 0.281172924634215 1.1438269854889398 0.2526953961281886 1.0 0.465261491927844 254 Q8NCH0,P10619,Q13586,Q6NUK1,Q9H3H5,Q9Y4P3,Q6NUQ1,P40855,Q9Y5Y5,Q03252,O43772,P03886,Q9NP58,Q8IZA0,O75787,Q3T906,Q8NI22,P35670,P51648,Q9UJS0,Q9NX14,P38435,O14521,Q14108,O75844,Q9Y487,P21912,Q15125,P51812,P00374,Q9NWM8,Q9Y5U9,Q06136,P03915,O75431,Q96MW5,P00403,P51798,O15269,P02545,P78536,Q16625,P21964,Q14739,P37268,O75381,P04062,P53701,Q07954,Q86YV9,Q9UBM7,P50542,P39210,P16278,Q9Y2B2,P04066 56 |
| Mutism 0.4276401022786367 1.1419526592157834 0.2534736981658136 1.0 0.4663278877488889 20 Q9NX14,P53701,Q92581,Q13510,P35637 5 |
| Abnormal elasticity of skin 0.3236754611611478 1.1411138817367132 0.2538225352487422 1.0 0.4666031220977663 71 P04062,Q9NWM8,Q9NX14,Q8NCH0,P38435,Q6NUK1,O96000,Q9Y4P3,Q9Y487,Q9UHX1,O75844,P51812 12 |
| Hypoglycemic seizures 0.569015218705146 1.138371357059446 0.2549654491249182 1.0 0.4681529453944011 7 Q13423,P31751,P40939,P53985 4 |
| Abnormality of the anus 0.3306156345400496 1.1379707388185836 0.2551327010046833 1.0 0.4682764778628279 55 Q12768,P16435,Q9NX14,P53701,Q6NUK1,P16615,Q9Y2B2,P78536,Q9H9S5,P21964 10 |
| Subcutaneous hemorrhage 0.3383132343824941 1.1369260903741658 0.255569184212185 1.0 0.46866591168458 47 P04062,Q9NWM8,Q8NI22,Q8NCH0,P35670,P38435,Q13586,Q96MW5,Q86YV9,P51798,Q14108,Q16625,P21964 13 |
| Abnormality of the upper respiratory tract 0.308119090487809 1.1362754035321534 0.2558413214550858 1.0 0.46866591168458 112 O43909,O15460,P07602,Q15165,P08236,Q3T906,Q13277,Q9NZJ7,Q7RTS9,P54802,Q96DX4,Q9UHX1,Q13510,Q03519,P02545,P35637,Q14739,P21964,P16435,Q03518,Q86YV9,Q9UBM7,P16278,P15586,Q96HY6,P04066 26 |
| Stillbirth 0.4939000654757432 1.1354802751290114 0.2561741418657071 1.0 0.4689049328729581 12 P04062,Q14739,P16435,O75844 4 |
| Venous insufficiency 0.585288411323541 1.1349140097905286 0.2564113493310358 1.0 0.4689694495379038 6 P21964 1 |
| Varicose veins 0.585288411323541 1.1349140097905286 0.2564113493310358 1.0 0.4689694495379038 6 P21964 1 |
| Abnormal renal tubule morphology 0.3779007891936711 1.1319309099481414 0.2576634823247707 1.0 0.4708918264569748 29 P23786,Q86YH6,P03886,Q9Y276,P03915,O43819,Q9Y4P3,O95169,Q9UHJ6,P06280,P03905 11 |
| Abnormal ossification involving the femoral head and neck 0.6021346293805785 1.131200517834104 0.257970704045297 1.0 0.4712694140983506 5 Q14739,Q7RTS9 2 |
| Aplasia hypoplasia of the optic nerve 0.3928919850081426 1.1301050821238845 0.2584319485383974 1.0 0.4719279715219702 25 O95721,Q9NVI7,Q9UHX1,P07196,P37268 5 |
| Aplasia hypoplasia of the femur 0.4370113407530721 1.1290980755131936 0.2588564630766106 1.0 0.4723575411745769 18 O75431,Q8WVQ1,Q96DX4,P50542,Q9UHX1,O95831,Q96HY6 7 |
| Urinary incontinence 0.3309824508502727 1.1277706710753586 0.2594167826927194 1.0 0.4728587392864563 54 Q12768,O43681,P33897,Q99720,Q9NZJ7,Q92581,P07602,O75298,P07196,P50570,P35637,P51812,Q8WWI5 13 |
| Decreased plasma carnitine 0.4926411005823222 1.1277005512714318 0.2594464047750198 1.0 0.4728587392864563 12 P23786,O75880,P40939 3 |
| Abnormality of ocular smooth pursuit 0.3998164351191583 1.1270241668217624 0.2597322633899335 1.0 0.4729938671982128 24 Q9BTW9,P46977,O14773,Q10713,Q9UBB4,P41440,Q9NW15 7 |
| Episodic pain 0.4718617431489338 1.121208872544045 0.2621989639087041 1.0 0.4766380257397957 14 O14521,P23786,Q13423 3 |
| Deposits immunoreactive to beta amyloid protein 0.5457832939189661 1.121130491871374 0.2622323211638457 1.0 0.4766380257397957 4 P05067,O96008 2 |
| Middle age onset 0.5047506444027029 1.1208318044633347 0.2623594634534014 1.0 0.4766841453901211 11 P07602,Q9NZJ7 2 |
| Progressive microcephaly 0.3434658521162561 1.1204064403387222 0.2625406017132878 1.0 0.4768282971791548 45 O43909,O75419,O95721,Q9BT22,Q15043,Q6PJG6,Q96MW5,Q8WTW3,Q5T8D3,Q9Y487,P50897,Q5KU26,Q9HC21 13 |
| Submucous cleft of soft and hard palate 0.376133683481896 1.118701966269702 0.2632673060818975 1.0 0.4774076893873821 27 Q15392,Q7LGA3,P49589,O43505,P02545,O75844,Q9Y619 7 |
| Delayed fine motor development 0.5286018806689251 1.1163791001752357 0.2642598957650721 1.0 0.4788368865623203 9 P16435,P51798,Q5KU26 3 |
| Arteriosclerosis 0.4402288485512267 1.1159304456243195 0.2644519083906633 1.0 0.4789995123363755 17 P38435,O75845,P02545,O75844,Q13510,P16278 6 |
| Abnormal lactate dehydrogenase level 0.4397783467412539 1.112664967664438 0.2658523466165921 1.0 0.4798660468408929 17 P23786,Q9UJS0,P10253,Q96RL7,O43505,Q5JRX3,Q9H9S5 7 |
| Epileptic spasm 0.3215768142681889 1.1118226199552323 0.2662144241650819 1.0 0.4802617155904388 71 Q01105,Q9GZY8,Q9H3H5,Q9UBX3,P13073,Q13510,P03886,Q9NZ01 8 |
| Abnormal renal pelvis morphology 0.3235800549802474 1.1112013691105915 0.2664816820707836 1.0 0.4802617155904388 65 Q12768,P23786,P16435,Q8NCH0,Q9Y2B2,Q8WTW3,O43505,P20700,Q9UBM7,P40855,P50542,Q9Y5Y5,Q15125,O75381,O76024 15 |
| Male pseudohermaphroditism 0.5803178343452784 1.1106814814638204 0.266705476062558 1.0 0.4804801730296237 6 Q96J42,Q9NX14 2 |
| Oculomotor apraxia 0.3753054985896483 1.1092644572428738 0.2673161132631418 1.0 0.4812100978188149 31 P04062,Q9Y4W6,P33897,P05067,O14773,O43292,O43924,O96008,Q10713,Q9Y2B2 10 |
| Abnormality of the calcaneus 0.5152594844316772 1.108673821008271 0.2675709193200259 1.0 0.481407912078479 10 Q14739,Q96DX4,P40939,Q7RTS9 4 |
| Abnormality of the amniotic fluid 0.3080107377604187 1.1085333257423693 0.2676315548788128 1.0 0.481407912078479 107 Q96J42,Q9BT22,P23786,Q3T906,Q9NVI7,Q9BUB7,O75844,Q9UHX1,P50570,Q15125,P51798,Q70HW3,P21964,Q14739,P40939,P04062,P16435,Q7LGA3,Q96I36,Q9Y2B2 20 |
| Frontotemporal dementia 0.4789706711204627 1.102129764017557 0.2704052612591376 1.0 0.4854650225135303 13 P22626,Q13501,P05067,Q9UHD2,O96008,P49768,P35637 7 |
| Abnormality of thalamus morphology 0.427995776954005 1.101407991799363 0.2707191287595629 1.0 0.4858422985094991 19 Q9GZY8,Q9H9S5,O95169 3 |
| Hyperlordosis 0.3237425785299635 1.101066380799817 0.2708677676246342 1.0 0.4859228738237407 59 O43909,Q9BTV4,Q8TD16,Q8WVQ1,Q9Y4P3,Q9H3H5,Q7RTS9,P55795,Q96DX4,P02545,P50402,Q9H9S5,P50570,Q96HY6,P04066 15 |
| Hepatocellular adenoma 0.4263229308005606 1.099637293917097 0.2714901860387249 1.0 0.4866666786856166 2 P10644 1 |
| Maturity onset diabetes of the young 0.4263229308005506 1.099637293917034 0.2714901860387524 1.0 0.4866666786856166 2 P61457 1 |
| Metaphyseal widening 0.3743007891543495 1.099102057919541 0.2717235523975638 1.0 0.4867486207122186 28 Q3T906,P48444,Q8WVQ1,Q7RTS9,Q93063,P16278,O95831,Q14739,Q96HY6 9 |
| Unusual infection by anatomical site 0.4684918781027498 1.0990557886930843 0.2717437325282774 1.0 0.4867486207122186 14 Q9NZ08,Q9BUB7,Q14739 3 |
| Abnormality of the carpal bones 0.3964395015475439 1.0981673382722346 0.2721314255384417 1.0 0.4870705377233706 24 O43909,P16435,Q3T906,Q8WVQ1,Q7RTS9,Q96DX4,Q93063,Q15125 8 |
| Bulbous nose 0.3316105698625542 1.0966021774893833 0.2728153352095595 1.0 0.4879217373507356 51 P23786,Q96A33,O75431,Q9Y2B2,P42892,O75845,P21964 7 |
| Pancreatic islet cell hyperplasia 0.5407539259356258 1.0955942973508417 0.2732563584238727 1.0 0.4884831631870008 4 Q14739 1 |
| Cerebral cortical atrophy 0.301415917999535 1.0951292770531875 0.2734600039737886 1.0 0.4885151253292242 123 P51970,Q8TD16,O96008,O75503,Q9H3H5,Q9Y4P3,P51572,Q9Y619,P03886,Q5KU26,P05067,O43924,Q9NWS8,Q9BUB7,P51812,Q96RL7,P03915,Q8WTW3,P00403,O76024,P04062,Q7LGA3,Q92581,Q9H9S5,Q16625,Q9Y2B2,Q8NB90 27 |
| Episodic tachypnea 0.5430038019933643 1.0948738765500343 0.2735718952145587 1.0 0.4885286912638174 8 Q10713,O43924 2 |
| Weakness of facial musculature 0.3194392170726177 1.0942266022994682 0.2738556069261331 1.0 0.4886445490283811 73 P50570,Q15043,Q9H3H5,P51798,P40855,P12235,Q9UHX1,Q9Y5Y5,P07196,Q13510,O60313,Q9H9S5,P51812,O75381 14 |
| Abnormality of circulating adrenocorticotropin level 0.5245743362242734 1.0940119418569965 0.2739497407661249 1.0 0.4886445490283811 9 Q13423 1 |
| Weak cry 0.5122873408262922 1.0915966129178485 0.2750104455575446 1.0 0.4901632142281351 10 P38935,P53007,O60313,Q13510 4 |
| Abnormal male reproductive system physiology 0.3495524525164817 1.0888965921258005 0.2761994892345141 1.0 0.4915343493823952 42 P16435,P04062,Q13423,P33897,P20700,O75298,O76024 7 |
| Metaphyseal dysplasia 0.4762994871294012 1.0851137430744238 0.2778712811951296 1.0 0.4937591354772334 13 O43909,Q7RTS9,Q9HC07 3 |
| Abnormal anterior chamber morphology 0.5749036571123161 1.084292954880658 0.2782349279945033 1.0 0.4940950287136346 6 Q9Y2B2 1 |
| Abnormal basal ganglia mri signal intensity 0.3657969393902816 1.08417932863868 0.2782852951418832 1.0 0.4940950287136346 35 Q7KZN9,Q86YH6,Q8N183,P03915,Q9GZY8,Q9BPX6,Q8NI60,P16278,Q9P0J0,P03886,Q96CU9 11 |
| Abnormal length of corpus callosum 0.4236092265943147 1.0825840469098256 0.2789930914537553 1.0 0.4948139494015107 2 P48449 1 |
| Abnormal autonomic nervous system physiology 0.3610810359411361 1.0803762373623296 0.2799746730857377 1.0 0.4959914405195142 37 P04062,Q15067,O43681,Q96RL7,Q9NZJ7,P42892,P20700,P07602,P06280,P41440,O76024 11 |
| Steppage gait 0.3794352776064923 1.0772501251251507 0.2813685373132373 1.0 0.4973018300523621 26 P05023,Q8TB36,Q6UWE0,Q96BR5,O43819,P38935,O15269,P02545,P07196,O95140,Q9NR77 11 |
| Increased total bilirubin 0.5371002661071221 1.0770508540044994 0.2814575472819838 1.0 0.4973018300523621 4 P23786 1 |
| Hyperacusis 0.5392584442731913 1.0750094055042552 0.2823705173891286 1.0 0.4977882963683396 8 P17900 1 |
| Abnormal gallbladder morphology 0.3625754988456493 1.0726884386679745 0.2834109293663325 1.0 0.4986839944222019 36 P04062,O43681,Q96A33,Q9NZJ7,O75845,P07602,P40855,P21964 8 |
| Abnormal pericardium morphology 0.4733520538454397 1.0663385279298592 0.2862706390182838 1.0 0.5026932689282485 13 P04062,Q9NZ08,P47985,O15460,Q14108,P02545 6 |
| Aplasia hypoplasia of the nipples 0.4284840806455698 1.0659622202062866 0.2864407204887906 1.0 0.5026932689282485 18 O95202,Q96A33,Q6NUK1,Q9Y2B2 4 |
| Dysplasia of the femoral head 0.4767893257285674 1.0640881414747485 0.2872887723776136 1.0 0.503786620423984 3 O75431 1 |
| Vascular neoplasm 0.3415836109088026 1.0636353001217658 0.287493944575856 1.0 0.503786620423984 44 O95202,Q12768,Q3T906,P16435,Q7LGA3,P10619,O14521,Q9UHX1,P21912,P50570 10 |
| Abnormal sensory nerve conduction velocity 0.5541503986329123 1.06287439245424 0.2878389172596454 1.0 0.5040140143716557 7 O15269,O95140,Q9Y3E5,Q9NR77 4 |
| Cranial asymmetry 0.5538652294351208 1.0614268296209652 0.2884959693594697 1.0 0.5049757550372782 7 O95202 1 |
| Distal sensory impairment of all modalities 0.5866247063851412 1.0587135000895675 0.2897302777409885 1.0 0.5069468139479978 5 O15269 1 |
| Sea blue histiocytosis 0.4757636753183215 1.058331293206491 0.2899044310254735 1.0 0.5070621190901111 3 P16278 1 |
| Colorectal polyposis 0.5063460861027993 1.0574662127769616 0.2902988667704906 1.0 0.5075624829984988 10 O14521 1 |
| Absent facial hair 0.5062062887394485 1.0566632990721894 0.2906652804413987 1.0 0.5080134976072804 10 P02545,O75844 2 |
| Recurrent bronchitis 0.5355990466501186 1.0556066153701589 0.2911479772970988 1.0 0.5084776754882964 8 Q03519,Q3T906,Q03518 3 |
| Biparietal narrowing 0.4714621043435286 1.0543005840328552 0.2917453214459513 1.0 0.5091412390658853 13 Q10713,O43924,O75845 3 |
| Delayed puberty 0.3261409493712366 1.0532511149599904 0.2922259172306318 1.0 0.5097900172470315 53 P16435,P04062,Q9UJS0,P49589,Q9NVI7,Q14108,Q15800,O75844,O76024 9 |
| Nasal regurgitation 0.4747264391130167 1.0525105891155628 0.2925653548338771 1.0 0.5100022783929589 3 P53007 1 |
| Abnormal cranial nerve morphology 0.3131563155126365 1.051135221147338 0.2931964896733381 1.0 0.5107223345592844 79 Q15043,Q9H3H5,O14521,P51798,P40855,Q13510,Q9UHX1,Q9Y5Y5,P07196,P50570,P12235,P21912,P51812,O75381,Q9H9S5 15 |
| Low set posteriorly rotated ears 0.3084533359973172 1.0504816999793265 0.293496700313788 1.0 0.5110544132451587 88 Q8NCH0,Q96J42,Q6NUK1,Q9Y4P3,P40855,Q9Y5Y5,O43683,O95202,Q15392,Q4J6C6,O43924,Q8WTW3,Q8WVQ1,O75381,P37268,P04062,P16435,Q02127,Q9UBM7,Q10713,P50542 21 |
| Protuberant abdomen 0.5166910266678099 1.0502453091790365 0.2936053428784633 1.0 0.5110544132451587 9 Q3T906,Q7RTS9 2 |
| Hypoventilation 0.460979874209 1.0496701487266158 0.2938697928479246 1.0 0.5112421400169285 14 Q9H9S5,Q8N183,O95169 3 |
| Joint contracture of the hand 0.319637765560792 1.0487876663657227 0.2942758552312725 1.0 0.5114612637860039 61 P16435,Q8IZA0,Q15392,Q8WVQ1,P42892,Q9BUB7,P02545,O75844,P07196,Q9Y619,Q9Y2B2,Q9NR77 12 |
| Bird like facies 0.5509780413562579 1.0467737454036865 0.2952039420548644 1.0 0.5126938318817149 7 O75844 1 |
| Hypoplastic nipples 0.479150679570683 1.044333944661758 0.2963309131891627 1.0 0.5135310948852051 12 Q96A33,Q9Y2B2 2 |
| Inappropriate crying 0.5334391732150687 1.044158132052628 0.2964122340406987 1.0 0.5135310948852051 8 P07602 1 |
| Metatarsus adductus 0.4255393153954437 1.0441540658903554 0.2964141149913073 1.0 0.5135310948852051 18 O95202,Q15392,Q9UBM7,P50542,Q03252,P08236 6 |
| Delayed menarche 0.5666456662096302 1.044068981296232 0.2964534757834318 1.0 0.5135310948852051 6 Q9UJS0,O75844 2 |
| Stenosis of the external auditory canal 0.5333300158114807 1.0435796206593853 0.2966799256948698 1.0 0.5137333722568467 8 O95202 1 |
| Young adult onset 0.4690896952485971 1.0391916618483137 0.2987156075849271 1.0 0.5163040243276009 13 P07602,Q9NZJ7,P38435 3 |
| Ectopia lentis 0.4908071759135335 1.0378255295004812 0.2993512890039733 1.0 0.5172118914402845 11 Q03519,O15533,P29992,Q03518,Q96L58 5 |
| Abnormal sternal ossification 0.5815525883725161 1.03503485686516 0.3006526329739027 1.0 0.518974407917194 5 O95202 1 |
| Sudden episodic apnea 0.52855836094134 1.0337357459269338 0.3012597172320532 1.0 0.5191848264773656 4 O43772 1 |
| Abnormal platelet morphology 0.56451870149296 1.0337157296654091 0.3012690773623996 1.0 0.5191848264773656 6 O75845 1 |
| Abnormal cardiac test 0.4188332060005345 1.0320559829588702 0.3020458924520823 1.0 0.5198150887536508 19 P10253,Q9BTV4,Q9H3H5,P12235,Q9HD47,P40939 6 |
| Hypoplastic labia majora 0.4891900844871372 1.0282041965749944 0.3038537848047522 1.0 0.5213837731507057 11 P16435,Q6NUK1,Q9Y619 3 |
| Abnormal labia majora morphology 0.4891900844871372 1.0282041965749944 0.3038537848047522 1.0 0.5213837731507057 11 P16435,Q6NUK1,Q9Y619 3 |
| Abnormality of the autonomic nervous system 0.3165874929978597 1.027750960845507 0.3040669893605998 1.0 0.5213837731507057 68 P04062,Q15067,O43681,P33897,Q96RL7,Q9Y2B2,Q6PJG6,Q9NZJ7,P42892,P20700,P07602,O15269,Q10713,Q9UBM7,P06280,P21964,P41440,O76024 18 |
| Abnormality of the auditory canal 0.3948036026089234 1.0273553523155785 0.3042531669620121 1.0 0.5214496282656658 23 O95202,P16435,P78536,Q9H9S5,Q9Y619 5 |
| Coloboma 0.3194327983732288 1.0257873882323318 0.3049918120592583 1.0 0.5221524006573376 57 O95202,Q12768,Q9NX14,P53701,P78318,O43924,O43505,Q10713,Q9UHX1,Q9H9S5,Q9Y2B2,Q9NP58 12 |
| Protruding tongue 0.4663203151227593 1.0215586293860075 0.3069898466677148 1.0 0.5242218161835859 13 P20700,Q6NUK1,Q10713 3 |
| Prominent nasolabial fold 0.5777604288230921 1.0173445476063705 0.3089895515836138 1.0 0.526293476224599 5 Q9Y487 1 |
| Abnormality of the nasolabial region 0.5777604288230921 1.0173445476063705 0.3089895515836138 1.0 0.526293476224599 5 Q9Y487 1 |
| Recurrent respiratory infections 0.2897787618932074 1.0169031253382623 0.3091995164344303 1.0 0.526459663750953 138 O43909,Q9Y4P3,O15460,P07602,Q9NPL8,P09601,P08236,O95202,Q3T906,Q13277,Q9NZJ7,Q7RTS9,P54802,Q9Y487,Q13510,Q03519,Q12768,Q9Y5U9,P10253,P78318,Q9Y2Q5,P14174,P51798,P04062,Q03518,Q86YV9,P20700,Q8N5M9,P50542,P15586,P04066 31 |
| Epiphyseal dysplasia 0.5281016550935403 1.015881177510337 0.309685973120779 1.0 0.5269918553626468 8 O43909,Q8WVQ1,Q7RTS9,Q9HC07 4 |
| Absent eyebrow 0.5604870146672355 1.0141011512217917 0.310534488773051 1.0 0.5275550432957019 6 O75844 1 |
| Large for gestational age 0.4867850149291263 1.0138983530239805 0.3106312573461882 1.0 0.5275550432957019 11 Q9Y2B2,P50570,P31751,Q9UM00 4 |
| Chronic diarrhea 0.4051277897129021 1.0113842135442974 0.3118325738711598 1.0 0.5286369077135405 21 Q9BT22,Q96A33,Q13510 3 |
| Pelvic kidney 0.5095295480782477 1.0105187286524488 0.3122468311088999 1.0 0.5291476689269491 9 Q9UHX1 1 |
| Genu varum 0.444722203464743 1.0087332194817948 0.3131025956327806 1.0 0.5300060632292792 15 Q9Y619,Q96HY6,Q7RTS9 3 |
| Spondyloepimetaphyseal dysplasia 0.4974414065185055 1.0063494431049955 0.314247504253893 1.0 0.5311556858833869 10 O95831,Q96DX4,Q96HY6,Q7RTS9 4 |
| Atrioventricular canal defect 0.5262654723298453 1.006159329250637 0.3143389328071624 1.0 0.5311556858833869 8 Q12768,Q9UBM7,Q9UHX1 3 |
| Weight loss 0.3065335546955443 1.0039267319496004 0.3154139305044143 1.0 0.5323959821559195 84 O15460,P07602,Q3T906,Q99720,P35670,Q9NZJ7,O14521,O75844,P21912,Q06136,Q96RL7,Q9NZ08,P02545,P35610,P35637,P04062,Q13423,P33897,P42892,Q92581 20 |
| Abnormality of the supraorbital ridges 0.3643434337126193 1.0036233628086508 0.3155601891830537 1.0 0.5324509820365358 29 P16435,Q6NUK1,P40855,P50542,Q9Y5Y5,P51812,O75381 7 |
| Bruising susceptibility 0.3577387817878746 1.002638853673887 0.3160351421651457 1.0 0.5329184826398934 35 P04062,Q9NWM8,Q8NI22,Q8NCH0,P35670,P51798,Q14108 7 |
| Moderate global developmental delay 0.4848082903320767 1.0021443355389934 0.3162738876378099 1.0 0.5330791254751716 11 O14521,Q9BUB7,P21912 3 |
| Cogwheel rigidity 0.5577910535871764 1.0009934751340734 0.3168299628902808 1.0 0.5334790325717215 6 P12235 1 |
| Increased circulating cortisol level 0.4655266015200866 1.0009461717590344 0.3168528327528883 1.0 0.5334790325717215 3 P17252,P10644 2 |
| Pseudoepiphyses of hand bones 0.5739574828831735 0.9996172315585472 0.3174957808286534 1.0 0.5341487883911387 5 O95202 1 |
| Flat acetabular roof 0.5074513250982782 0.9989989692592094 0.3177951905999034 1.0 0.5341487883911387 9 Q3T906,Q8WTW3,Q7RTS9 3 |
| Abnormality of circulating glucocorticoid level 0.4627674930589822 0.998946084897644 0.3178208098305088 1.0 0.5341487883911387 13 Q13423,P33897 2 |
| Subcutaneous nodule 0.4089235817643305 0.9970644131816015 0.3187332452224367 1.0 0.5349138062538962 20 O14521,Q9NZ08,Q13510 3 |
| Oval face 0.5569344087610326 0.996830070018772 0.3188469997995042 1.0 0.5349138062538962 6 Q9UHX1 1 |
| Abnormality of carpal bone ossification 0.5069670368385357 0.9963151923031176 0.3190970244637123 1.0 0.5351415906151195 9 O43909,Q15125,Q8WVQ1 3 |
| Adrenal hypoplasia 0.5237439146445638 0.9928144349436656 0.3208003940367414 1.0 0.5374822630178521 8 Q12768,O75844 2 |
| Aplasia hypoplasia of the clavicles 0.4329523425883795 0.992240630626494 0.3210801567028873 1.0 0.5376973378606809 16 O75431,P02545,O75844,Q9Y619,Q9Y2B2 5 |
| Type ii lissencephaly 0.5202956807042621 0.9919077831939082 0.3212425120211246 1.0 0.5377769572219255 4 O43505 1 |
| Abnormality of muscle size 0.276152848314876 0.9908542983110769 0.3217567310733165 1.0 0.538245820261356 228 Q9Y4W6,Q9BTV4,P51970,Q8TD16,Q96S52,Q13586,P04066,O43819,Q9Y4P3,O14979,P38935,P53007,Q15165,Q9NPL8,Q92804,Q9H0B6,O00400,P07196,Q03252,Q9BTW9,Q3T906,Q99720,P49589,P50416,P13473,O14521,Q9NVI7,Q6P4A7,Q9Y487,P12235,Q13510,P21912,P50570,P51812,Q12768,Q9NWM8,P10253,Q96RL7,Q96MW5,O75477,O15269,O60313,P02545,P50402,P35637,Q96DA6,O95140,Q9NR77,Q7LGA3,Q8TB36,Q96A33,O43505,Q92581,Q10713,O75298,P50542,P39210,P16278,O95831,Q9H9S5,Q6UWE0,Q6DKK2,Q9HC21 63 |
| Axial muscle weakness 0.5551493975590981 0.9881572969999944 0.3230756182189371 1.0 0.5399190533015065 6 P02545,Q9H9S5 2 |
| Purpura 0.3835694693626238 0.9881106859846568 0.3230984428702226 1.0 0.5399190533015065 24 P04062,Q8NCH0,P38435,Q13586,P51798,P21964 6 |
| Steroid resistant nephrotic syndrome 0.5712959356128309 0.9872195194146054 0.323535034741762 1.0 0.5401362344544527 5 Q12769,Q8N1F7 2 |
| Abnormal motor nerve conduction velocity 0.376619931370397 0.9871392999663782 0.3235743539451738 1.0 0.5401362344544527 25 Q99720,Q8TB36,O15121,P07196,Q9NR77 5 |
| Sepsis 0.4076083718562905 0.9868840794153052 0.3236994698676052 1.0 0.5401525888350063 20 P33897,P42892 2 |
| Abnormality of temperature regulation 0.296894742212247 0.9862211561409292 0.3240245997925843 1.0 0.5405025731582853 118 Q13586,O15460,P07602,Q5XKP0,P51572,O43772,P03886,P23786,Q9NZJ7,Q13510,P50570,P10253,Q9HC07,Q9NZ08,P03915,P47985,P14174,P00403,P51798,P35610,Q14739,Q9NR77,P20700,Q9HC21 24 |
| Head titubation 0.5218061207959962 0.982563980919912 0.3258220791338218 1.0 0.5419404173495104 8 P20700,Q96RL7,Q99720 3 |
| Cupped ear 0.4217803049370306 0.9821882418273764 0.3260071191739431 1.0 0.5419404173495104 17 Q9Y2B2,Q15392,P42892,Q02127 4 |
| Emg impaired neuromuscular transmission 0.521703287413107 0.9820201466228792 0.3260899230469287 1.0 0.5419404173495104 8 Q9H3H5 1 |
| Abnormality of the gallbladder 0.3372308714568244 0.9819348123897396 0.3261319640103521 1.0 0.5419404173495104 43 O95202,P04062,O43681,P47985,Q96A33,Q9Y4P3,Q9NZJ7,O75845,P07602,P40855,P21964,P04066 12 |
| Hydrocele testis 0.5043612324511793 0.9818793839977809 0.3261592733792207 1.0 0.5419404173495104 9 Q9UBX3 1 |
| Kyphoscoliosis 0.3133702760677216 0.9793499714425332 0.3274070872891765 1.0 0.5433615037896442 67 Q3T906,Q9NWM8,Q8NCH0,Q9HC07,Q8TB36,Q8WTW3,Q96DX4,P02545,Q9Y487,O75844,Q9H9S5,Q9NR77,P51812,Q5KU26 14 |
| Head tremor 0.4213685762231288 0.97920530213264 0.3274785493591301 1.0 0.5433615037896442 17 Q9Y4W6,Q96RL7,Q99720,P20700,P07196 5 |
| Cns hypomyelination 0.3250027351245423 0.9778573582065656 0.328144877700969 1.0 0.5440352616951042 47 Q99720,Q5BJH7,Q8TB36,Q9H3H5,Q5T8D3,Q9NWS8,O75746,P51572,O00400,P35637,Q9Y2B2 11 |
| Abnormal circulating metabolite concentration 0.2652044052303377 0.9767586748953646 0.3286886393020496 1.0 0.5442126498730295 396 Q9BTV4,O43676,P20674,O96000,O43819,P07602,Q03252,O43772,P03886,P50416,P13473,O75844,Q96CU9,Q9Y584,Q96RL7,P47985,Q96MW5,P14174,Q70HW3,O14678,P37268,Q13423,Q86Y39,P22695,Q9UBM7,Q15800,Q5JTV8,P50542,P39210,O95831,Q8NB90,P05023,O14874,Q8N511,Q9H3H5,Q5XKP0,Q9Y5Y5,Q8N1F7,P61916,P23786,Q3T906,Q8NI22,P05067,Q9NZJ7,O14521,P49768,Q9Y487,P50570,P06280,P41440,Q15904,Q9NWM8,P29992,Q9HC07,Q9Y6M9,Q9UGP8,O75845,P42167,Q96DA6,P21964,O75381,P36551,P33897,Q86YH6,Q99797,Q15043,Q9P0J0,Q9BT22,Q9NPL8,P40855,O95470,O00400,P07196,Q9NP58,Q15392,P35670,Q9NVI7,Q9BUB7,P12235,P21912,Q15125,P10253,O75431,Q6ZXV5,P51798,P50402,Q14739,P40939,O43505,O14653,Q13586,Q9Y4P3,Q6NUQ1,Q9Y619,Q9UJS0,Q9NX14,Q8N183,Q4J6C6,Q9BPX6,Q8IUX1,P03915,O75880,P02545,P35610,Q5JRX3,Q9Y6B6,Q9H9S5 107 |
| Joint dislocation 0.3009727812932081 0.9746299982260606 0.3297438278018023 1.0 0.5452605621728389 102 O43909,Q8NCH0,Q9Y4P3,Q9Y619,O95202,Q3T906,P51571,O75844,Q9UHX1,Q9Y487,Q15125,Q6ZXV5,Q8WVQ1,P51798,P02545,P21964,Q02127,Q96A33,Q9H9S5,Q9Y2B2 20 |
| Abnormality of the lens 0.2744067088232932 0.9745426271794052 0.3297871845934357 1.0 0.5452605621728389 246 Q96J42,Q9H3H5,Q9Y4P3,O15228,P40855,Q9Y5Y5,O00400,P03886,P08670,P23786,Q9UJS0,Q9NX14,Q9H6K4,O14521,Q9NVI7,Q9BUB7,Q96HR9,P12235,P21912,Q15125,P51812,Q06136,Q9NZ08,P03915,Q6ZXV5,O75845,Q9Y287,P00403,O60313,P02545,Q9NW15,P21964,O75381,O76024,P53701,Q7LGA3,Q03518,O43505,Q10713,Q15800,Q9H9S5,Q8WWV3 42 |
| Hyperglycemia 0.5201464905394053 0.9737886979470544 0.3301614659423377 1.0 0.5456867701037086 8 P02545,O75844,P35610 3 |
| Chronic fatigue 0.5026259006019292 0.9722706851753598 0.3309159035818152 1.0 0.546625170994588 9 P07602,Q13423 2 |
| Abnormal aortic valve morphology 0.3231376554932861 0.9721767289104868 0.3309626355552202 1.0 0.546625170994588 49 P04062,Q3T906,Q6NUK1,Q9Y4P3,Q9BUB7,O75844,Q9UHX1,P21964,P51812,P37268 10 |
| Aplasia hypoplasia of the phalanges of the hand 0.3137459935656814 0.971615727178452 0.3312417554724975 1.0 0.5467898221425984 62 P16435,P38435,Q6NUK1,Q9Y2B2,Q8WVQ1,Q7RTS9,P51798,P02545,O75844,Q9UHX1,Q14739,P51812 12 |
| Vomiting 0.3002993489295519 0.96770325316471 0.3331925929573522 1.0 0.5486448370621867 103 O43676,O96000,P07602,Q9NPL8,Q9Y619,P03886,P23786,Q9UJS0,Q13277,Q9NX14,Q8N183,P51571,Q9NZJ7,Q8IUX1,Q96CU9,Q9Y584,P03915,Q9Y6M9,P00403,P35610,P11117,P40939,Q13423,Q86Y39,Q2TAA5,P22695,Q9UBM7,Q9Y6B6 28 |
| Laryngeal cleft 0.4048846675712449 0.965247631712591 0.3344207947063 1.0 0.5495758649688267 2 Q01082 1 |
| Retinal detachment 0.4148723344456749 0.9651885212524672 0.3344503952751414 1.0 0.5495758649688267 18 Q8NCH0,O43505,P29992,Q9H9S5 4 |
| Polymicrogyria 0.302714963026626 0.9575026245247756 0.3383136223390566 1.0 0.5544650129587617 85 Q96N66,P23786,Q15392,O95721,Q01105,Q9Y320,Q6ZXV5,O43505,Q10713,P40855,Q9Y487,Q9H9S5,Q9Y5Y5,O75381,Q16625,Q9NZ01,P37268 17 |
| Limited elbow extension 0.446870330415632 0.956995846417094 0.3385693514815975 1.0 0.5546900462888432 14 P16435,Q9H6K4,Q7RTS9 3 |
| Spastic paraplegia 0.3140168681006203 0.9554792117887788 0.3393354131181556 1.0 0.5552697861540534 57 P04062,Q7KZN9,P33897,Q8N183,O60313,Q15041,O75298,O00400,Q9P0J0,Q9Y619 10 |
| Disturbance of facial expression 0.5483686246540131 0.9552478734498068 0.3394523612136004 1.0 0.5552697861540534 6 Q9NR77 1 |
| Corneal erosion 0.5642457215420379 0.9544207860404638 0.3398706887602689 1.0 0.5555633953154787 5 P51648,P39210 2 |
| Intestinal hypoplasia 0.5127767843852536 0.9539289534258306 0.34011960644288 1.0 0.5555673740649069 4 O75844 1 |
| Arthralgia 0.3399171030132686 0.9538247925726692 0.3401723374932008 1.0 0.5555673740649069 41 Q01130,P35670,Q9NZ08,Q9Y4P3,O15460,P14174,Q9Y2U8,Q15800,P02545,Q13510,Q03252,P06280,O95140,Q96HY6 14 |
| Expressive language delay 0.4361254915290721 0.9503967012307172 0.3419107195193862 1.0 0.5576393592407438 15 O14521,P21912,Q3T906,Q9UHX1 4 |
| Premature loss of teeth 0.4356427224663268 0.9471236858011646 0.343575756543824 1.0 0.5597181434241967 15 P51798,P02545,O75844 3 |
| Prenatal movement abnormality 0.3116262133343842 0.9466862129406716 0.3437986979146221 1.0 0.5597181434241967 64 O95202,Q7KZN9,P04062,Q9H2C2,Q9H3H5,Q70HW3,O75844,P50570,Q9HC21 9 |
| Decreased adipose tissue 0.4263992575753834 0.9463369504953304 0.343976752505152 1.0 0.5597181434241967 16 Q6NUK1,O75844,P02545,O75431 4 |
| Retinal hemorrhage 0.5458803644773061 0.9431876917793198 0.3455849078573207 1.0 0.5618529790863709 6 Q9Y487 1 |
| Abnormality of krebs cycle metabolism 0.5304791918789281 0.9429620448097726 0.3457003171919131 1.0 0.5618529790863709 7 P03886 1 |
| Type i diabetes mellitus 0.4535434011584668 0.9403077687510504 0.3470597158133777 1.0 0.5632482888987048 13 P03905,P03915,Q5JRA6,P00403,P03886 5 |
| Ambiguous genitalia 0.3711533731534747 0.939111199142529 0.3476736549306589 1.0 0.5634959860537047 25 O43683,P16435,Q15392,Q9NX14,P53701,Q96J42,O75845 7 |
| Mucosal telangiectasiae 0.444043170455956 0.9384559442483252 0.3480101473629586 1.0 0.5638462574362153 14 O14521,Q8IZA0,Q14739,P21912 4 |
| Generalized hypotonia 0.2640110984768661 0.9366127783089556 0.3489577765588751 1.0 0.5649907450403633 398 O14949,O43909,O43676,O43819,P07602,P50897,O43772,Q92643,O43924,P50416,Q9UHX1,Q96CU9,P06865,Q70HW3,P13073,Q8NI60,O14678,Q9NR77,Q86Y39,Q01105,O43292,Q9UBX3,Q9UBM7,Q93063,P50542,P39210,Q5BJH7,Q9Y2B2,P17900,Q7KZN9,Q8N511,Q9H2C2,Q9H3H5,Q5XKP0,Q9Y5Y5,O95202,P23786,Q9NZJ7,O14521,Q9Y487,P50570,Q9NZ01,Q9HC07,Q9Y6M9,O75845,O75381,O43681,P46977,Q96A33,Q96N66,Q9P0J0,Q8NCH0,Q9BT22,P40855,O95470,O00400,Q9NVI7,Q9BUB7,Q6P4A7,P12235,P21912,Q15125,P10253,O75431,Q8WTW3,P51798,P40939,O95169,Q6NUK1,O15228,Q9Y619,Q5KU26,Q8N183,Q4J6C6,P51571,Q9NWS8,Q96DX4,P51812,P00374,Q12768,Q8WVQ1,O75880,P11117,Q92581,Q10713,Q9H9S5,Q53FT3 87 |
| Abnormality of the elbow 0.3096946629943596 0.9326584555952672 0.3509963413676653 1.0 0.5669086980486284 68 O43909,P23786,P16435,O75419,Q9BTV4,Q7LGA3,Q9H6K4,Q8WVQ1,Q7RTS9,Q96DX4,P02545,P50402,Q13510,P50542,Q9Y619,P37268 16 |
| Rod cone dystrophy 0.3191223871634766 0.9325703667207952 0.3510418394450316 1.0 0.5669086980486284 50 P38435,P03886,Q9Y276,P03915,O96011,Q15555,Q9H3H5,Q13608,P56589,Q5T8D3,O15078,P40855,Q96HR9,P50542,Q9Y5Y5,P03905,Q15067,O75381 18 |
| Gastrointestinal hemorrhage 0.3447596959878795 0.9320418001741452 0.3513149236095696 1.0 0.5669086980486284 38 Q8NI22,Q9NZ08,P21964,O14521,P21912,Q9UHX1,Q14739,O76024 8 |
| Decreased circulating cortisol level 0.484408237565583 0.9316926146606326 0.3514954042900826 1.0 0.5669086980486284 10 Q13423,P33897 2 |
| Abnormality of the musculature of the upper limbs 0.3009387350157905 0.930461273231312 0.3521323063860229 1.0 0.5673848376718718 85 Q9BTV4,Q8TB36,Q13586,Q9NZJ7,Q9H3H5,P07602,O60313,Q9Y487,P12235,P50402,P07196,P50570,P02545,Q9H9S5,Q9NR77 15 |
| Exaggerated startle response 0.4838366003187517 0.9284243592163 0.3531874876583503 1.0 0.5679491183056516 10 P16278,P17900,P06865 3 |
| Limb girdle muscular dystrophy 0.4946277887771625 0.9280437838377932 0.3533848583535859 1.0 0.5679491183056516 9 P02545,Q9BTV4,P50402 3 |
| Abnormal blood transition element cation concentration 0.4602887528118678 0.9279847398923828 0.3534154854590496 1.0 0.5679491183056516 12 P35670,O43819,Q8NB90,Q15904,Q9Y487,P28288 6 |
| Spinal deformities 0.5274739549309437 0.92779014866618 0.3535164351390558 1.0 0.5679491183056516 7 Q8TB36,Q93063,Q9H9S5 3 |
| Abnormality of the spleen 0.2862641667079355 0.9275049182245916 0.3536644394045507 1.0 0.5679491183056516 135 Q96J42,Q9BT22,P10619,Q13586,Q6NUQ1,P07602,P08236,O95202,Q3T906,Q15392,Q9UJS0,P35670,Q9NZJ7,P54802,Q14108,Q13510,P10253,Q96RL7,Q9NZ08,Q8WTW3,O75845,P51798,P02545,P21964,Q14739,P04062,Q96A33,Q10713,Q16625,P15586,Q96HY6,P04066 32 |
| Adult onset 0.304700800258541 0.927212343405342 0.3538162953065524 1.0 0.5679491183056516 79 Q07021,Q8IV08,Q9BTV4,Q13586,O14979,P07602,Q9NQZ5,P38435,Q9NZJ7,P49768,O14521,P42345,P12235,P21912,P41440,Q12768,Q9UGP8,P02545,Q13472,Q16637,Q9H0U3,Q14566,P04062,P36551,O76024,Q86U42,P54098,P31751,P20700,Q9NWW5,P43243 31 |
| Neonatal respiratory distress 0.3627318366054381 0.9262540223973684 0.3543139837417213 1.0 0.5682500170894782 26 P23786,Q8WVQ1,O96000,Q96I36,P50570 5 |
| Meningioma 0.4834507864867758 0.9262188770577108 0.3543322443044452 1.0 0.5682500170894782 10 O14521,P21912 2 |
| Muscle fiber tubular inclusions 0.5423617877789697 0.9261506430611336 0.354367698530821 1.0 0.5682500170894782 6 Q9H3H5 1 |
| Eeg with focal spikes 0.5579720022753296 0.9252943684468862 0.3548128073099992 1.0 0.5687690586721548 5 O75503 1 |
| Vertebral segmentation defect 0.3548262165365731 0.9245170681110808 0.355217169165138 1.0 0.5689706173189641 32 O95202,Q12768,P16435,Q8WTW3,Q9Y4P3,Q9UHX1,Q9Y619,Q15125 8 |
| Enlarged thorax 0.3884207199225374 0.9241602379670716 0.3554028942524774 1.0 0.5689706173189641 22 Q7RTS9,P02545,O75844,Q14739,P08236,P04066 6 |
| Abnormality of the ureter 0.3060774216967145 0.923998027931919 0.3554873425542673 1.0 0.5689706173189641 76 P16435,P23786,Q7LGA3,Q96J42,Q9Y2B2,Q9Y4P3,O14521,P02545,O75844,Q9UHX1,P21912,P21964,O76024 13 |
| Epidermoid cyst 0.4516829533116175 0.9236523060080613 0.3556673713727427 1.0 0.5689706173189641 3 O60716,P49815 2 |
| Cutaneous cyst 0.4516829533116175 0.9236523060080613 0.3556673713727427 1.0 0.5689706173189641 3 O60716,P49815 2 |
| Abnormality of salivation 0.3183296694586549 0.9228647515507402 0.3560776916457864 1.0 0.5694325393201992 50 O43909,O75787,P35670,Q96RL7,P55795,Q92581,Q15165,Q92804,P15586,Q03252,P35637,Q14739,P51812,Q9NR77 14 |
| Dystrophic toenail 0.5411022104592604 0.9200568926168888 0.357543029483941 1.0 0.570996096182332 6 O75844 1 |
| Abnormality of upper limb epiphysis morphology 0.4083981335388519 0.9173266322016204 0.3589715057337663 1.0 0.5721256047299215 18 P16435,O15228,O95202,Q7RTS9 4 |
| Postnatal growth retardation 0.306452247780863 0.916224335753036 0.3595492440109071 1.0 0.5721256047299215 74 O95202,Q12768,Q3T906,Q02127,O75431,Q8WTW3,Q7RTS9,P02545,Q9Y487,Q9UHJ6,Q15125,P17900,O76024 13 |
| Incomplete penetrance 0.3525216512585721 0.916139199899183 0.3595938899071069 1.0 0.5721256047299215 33 P36551,P03886,P03915,Q6UWE0,O14979,O60313,P21912,Q9UBB4,P03905,O95140 10 |
| Gingival overgrowth 0.3523964414590897 0.914903989444459 0.3602420355217999 1.0 0.5725458869354404 33 O43909,Q3T906,Q9Y5U9,Q96S52,O00754,Q8N766,Q9Y4P3,O75845,P20700,Q9UBM7,P16278,Q14739,P08236 13 |
| Urinary retention 0.5396294048813525 0.91293521051679 0.3612766176662569 1.0 0.5731736139127759 6 P20700,P33897 2 |
| Tricuspid valve prolapse 0.4497303124512974 0.9127882807810824 0.3613539030496215 1.0 0.5731736139127759 3 Q9NX14 1 |
| Scaphocephaly 0.5393625676073917 0.9116453641359868 0.3619554337701696 1.0 0.5737391714989761 6 P48444,Q969X5,P40855 3 |
| Abnormal circulating fatty acid anion concentration 0.4303506098087719 0.91127325012625 0.3621514171575168 1.0 0.5738556285405307 15 P23786,O75880,P40939 3 |
| Muscle fibrillation 0.4113733163604175 0.9068691776433824 0.3644759822121237 1.0 0.5767586150951309 17 Q9NX46,P50570,Q9NWS8,Q13510 4 |
| Hammertoe 0.3917702072871205 0.9055966286127816 0.3651493939090611 1.0 0.5770042085764748 21 Q99720,Q8TB36,Q6UWE0,Q96BR5,Q9UBM7,P51149,P39210,P07196,O95140,Q9NR77 10 |
| Limb dystonia 0.3969242328028387 0.9042677949359128 0.3658534192716234 1.0 0.5775724354122966 20 Q9Y4W6,Q96RL7,Q99720,Q5BJH7,P35637 5 |
| Mandibular prognathia 0.3167641227842788 0.903698537855841 0.3661552746444476 1.0 0.5778542137582859 50 Q3T906,Q6NUK1,Q7RTS9,Q9NVI7,Q9UHX1,Q9Y2B2,P51812 7 |
| Diarrhea 0.2990508308893388 0.90313891235168 0.3664521741647182 1.0 0.5779333278745926 86 Q13423,Q9UJS0,P33897,Q13277,P03915,Q9BT22,Q96A33,P42892,P54802,P00403,O14521,P78536,P35610,Q13510,P03886,P15586,P40939 17 |
| Hyperextensible skin 0.406326217891679 0.9020268817968384 0.3670425879644652 1.0 0.5786696338019371 18 P04062,Q9NWM8,Q9UHX1 3 |
| Tongue fasciculations 0.4556009056045276 0.8991562891429068 0.3685694191829096 1.0 0.5802872805226196 12 Q9NX46,Q9NWS8,O95831,Q13510 4 |
| Abnormal bleeding 0.2913179202335328 0.8989144079681703 0.3686982529517824 1.0 0.5802872805226196 119 Q8NCH0,Q13586,Q9H3H5,O15460,Q96L58,P23786,Q8NI22,Q9UJS0,P35670,P38435,P05067,O14521,Q14108,O75844,Q9UHX1,Q9Y487,P21912,P50570,Q9NWM8,P29992,Q9NZ08,Q6ZXV5,Q96MW5,P51798,P02545,P21964,Q14739,P11117,O76024,P04062,Q86YV9,Q4KMQ2,Q16625 33 |
| Elevated circulating aspartate aminotransferase concentration 0.4377018803096746 0.8969276073873195 0.3697575474767638 1.0 0.580994415424744 14 Q96RL7,Q96MW5,O75880,Q9Y5Y5,P40939 5 |
| Erythroderma 0.4888835309655842 0.8963532273741897 0.3700641394685462 1.0 0.5812811634039807 9 Q15125,P78536 2 |
| Low alkaline phosphatase 0.5010065804744235 0.894691729511471 0.3709519010089201 1.0 0.5820900181995919 4 Q92643 1 |
| Aplasia hypoplasia of the cerebral white matter 0.4775349754428092 0.8924403394304148 0.3721569573417196 1.0 0.5833946412947171 10 P00403,Q9Y320,P03886 3 |
| Amyloidosis 0.4999728789608424 0.889504409437461 0.3737320544925042 1.0 0.5849508009007711 4 P05067,Q9Y287 2 |
| Spinal rigidity 0.4365433049956914 0.8893501704412529 0.3738149160735966 1.0 0.5849508009007711 14 Q9BTV4,P53007,P02545,Q5JTV8,P50402 5 |
| Constitutional symptom 0.2679595138711474 0.8891788418946523 0.373906971973889 1.0 0.5849508009007711 271 Q96HY6,Q9BTV4,Q13586,Q9Y4P3,O15460,P07602,Q15165,Q92804,Q9UBB4,Q03252,P07196,Q8N1F7,P23786,Q9UJS0,Q99720,P35670,Q4J6C6,Q9H6K4,Q9NZJ7,P50416,O14521,Q14108,O75844,P12235,Q13510,P21912,P50570,P06280,Q8IUX1,P51812,Q53H12,Q12768,P29992,Q9NZ08,Q9UGP8,P14174,P51798,O75477,O15269,Q70HW3,O60313,P02545,P50402,P35610,P35637,Q96DA6,P21964,O95140,Q9NR77,Q14739,P04062,P40939,Q13423,O43681,P33897,Q07954,Q15043,P42892,Q92581,P20700,Q15800,Q93063,O75298,Q9H9S5,Q01844,Q8WWI5 66 |
| Abnormality of neutrophil morphology 0.5343676356598812 0.8875266839012032 0.3747954064470287 1.0 0.5849642094822682 6 Q14739 1 |
| Muscular hypotonia of the trunk 0.2974061353441076 0.8867846485957193 0.3751948541609882 1.0 0.5849642094822682 91 Q9H3H5,P07602,Q5XKP0,Q3T906,Q9NX14,Q9GZY8,Q9NZJ7,Q9NVI7,Q9Y5U9,Q6ZXV5,O75880,O60313,Q15043,P20700,Q96N66,Q5BJH7,Q16625,P17900,Q9HC21 19 |
| Abnormal renal physiology 0.2782863849184671 0.8867759411571551 0.3751995430546864 1.0 0.5849642094822682 185 Q8NCH0,Q9BT22,O43676,O96000,O43819,O15460,Q9Y4P3,Q9NPL8,P40855,O95470,P09601,Q03252,O43772,P03886,P23786,Q8NI22,Q13277,P35670,Q9NX14,Q8N183,P50416,O14521,Q9NWS8,Q14108,Q8IUX1,P21912,Q7Z4L5,Q9NZ08,P03915,Q9Y6M9,Q8WTW3,P00403,O76024,P04062,Q86Y39,O95721,O95169,Q10713,Q9UHJ6,Q16625 40 |
| Preaxial hand polydactyly 0.4445023753495728 0.8829825283556282 0.3772457114656635 1.0 0.5872317430292743 13 O95202,Q96J42,Q9UHX1 3 |
| Functional abnormality of male internal genitalia 0.3504115686667707 0.881500433047239 0.3780470197331924 1.0 0.5881010429858098 32 P16435,P04062,Q13423,P33897,O76024 5 |
| Bladder diverticulum 0.5022427889152613 0.8794131535754858 0.3791773027446599 1.0 0.5890767781280222 8 Q9NWM8 1 |
| Cutaneous abscess 0.4976920988324929 0.8780687710260907 0.3799063991061122 1.0 0.5900137842881398 4 P49768,O14920,P53634 3 |
| Abnormality of blood circulation 0.3010629922897849 0.8738129301816098 0.382220137666299 1.0 0.59282090226124 79 P04062,P23786,Q8NI22,Q13277,Q9UJS0,P38435,Q9NZ08,Q9H3H5,O14521,Q14739,O75844,Q9UHX1,Q9Y487,P21912,P50570,P21964,O76024 17 |
| Broad columella 0.4966060276948334 0.8726281963632506 0.3828657666175434 1.0 0.5936257036863865 4 Q8TC12,Q13868,P36543 3 |
| Focal myoclonic seizure 0.4739377757990237 0.871940691249524 0.3832407335473329 1.0 0.5939803440889505 10 O14521,O75503,P21912 3 |
| Focal onset seizure 0.2955038070170683 0.8717438786036371 0.3833481170326425 1.0 0.5939803440889505 97 Q01105,O75503,Q9H3H5,Q9UBX3,Q9NZJ7,P00403,P07602,O14521,P21912,Q96N66,P03886,Q9NZ01 12 |
| Hypertonia 0.265025062779757 0.8710981372875005 0.3837005711114214 1.0 0.5943298528723208 425 O43909,Q8TD16,O96008,O43819,P07602,Q86XL3,P50897,P03886,O75787,P51648,Q9H6K4,Q7RTS9,Q13510,P55795,Q96CU9,P06865,Q96RL7,P35637,Q01105,Q7LGA3,Q9H490,Q2TAA5,O43292,Q9UBX3,Q9UBM7,O75298,P50542,P16278,O95831,Q5BJH7,P17900,Q8NB90,Q7KZN9,P51970,Q9H2C2,Q15907,O75503,Q9H3H5,O15121,Q15165,Q5XKP0,Q92804,Q9Y5Y5,Q9UBB4,Q15067,P61916,Q99720,P05067,Q9GZY8,Q9NZJ7,O14521,Q9Y487,Q9NZ01,O60313,O75381,P04062,O43681,P33897,Q15043,Q96N66,Q9P0J0,Q6DKK2,Q9HC21,P40855,Q15041,O00400,P07196,Q15392,Q9NVI7,P12235,P21912,Q15125,Q9Y320,Q6ZXV5,Q9Y287,Q14739,O43505,O95169,P20700,Q9Y4W6,Q9Y4P3,Q9Y619,Q5KU26,Q8N183,Q9BPX6,P51812,Q12768,P03915,O75746,P35610,P11117,O00584,Q10713,Q9H9S5,Q53FT3,Q16625,P04066 97 |
| Migraine 0.350311332195677 0.8689771223843629 0.3848596441316509 1.0 0.595534381603123 30 Q9NZ08,Q13586,P00403,O60313,P12235,P03886,Q9NQZ5 7 |
| Malabsorption 0.3055234659739362 0.8616671839034916 0.3888706888339104 1.0 0.5999572814552162 62 Q9Y4P3,P40855,P09601,Q9Y5Y5,Q13608,P42345,Q9Y3E5,P06280,Q9NZ08,P14174,Q14739,O75381,Q14566,Q01130,O76024,P54098,O96011,Q96A33,P56589,Q9Y6B6,Q9UHJ6,P50542,Q8IWT6,P06748 24 |
| Abnormal circulating protein concentration 0.2774928630334771 0.860436019934633 0.3895487374682802 1.0 0.6006077308431286 174 Q9BTV4,Q8N511,Q9BT22,Q13586,Q9H3H5,Q9Y4P3,Q5XKP0,O95470,O00400,P07196,O43772,P23786,Q3T906,Q9UJS0,P50416,P13473,O14521,Q9BPX6,Q9Y487,P12235,P50570,Q9NWM8,P10253,Q9Y584,Q96RL7,Q9HC07,P47985,Q6ZXV5,Q96MW5,P14174,P42167,P02545,P50402,P40939,O43505,Q5JRX3,Q9Y6B6,Q5JTV8,O14653,P39210,Q9H9S5 41 |
| Abnormal lung development 0.3087608492122605 0.8593643391272118 0.390139537744699 1.0 0.601122893025056 55 O95202,O43683,O75419,Q6NUK1,O96000,Q9H3H5,P21964,Q9UBM7,P02545,O75844,Q9UHX1,Q14739,Q7Z4L5 13 |
| Male hypogonadism 0.4819084424180193 0.8579755634518438 0.3909059570473863 1.0 0.6021057227260629 9 O76024 1 |
| Joint swelling 0.4980439985200633 0.8573789774679728 0.3912354736934287 1.0 0.6024151738264365 8 P35670,Q13510 2 |
| Chorea 0.2948440263405439 0.8560861135714628 0.391950149064413 1.0 0.6033172849877458 95 O43681,Q96RL7,Q01105,Q99720,P03915,Q9H6K4,Q96IX5,O43819,Q9NZJ7,O95169,P07602,Q9BPX6,Q5XKP0,Q96N66,Q9P0J0,P03886,Q9NZ01,P17900 18 |
| Abnormal palmar dermatoglyphics 0.3020849336696404 0.8539385174125406 0.3931390564439214 1.0 0.6044655715403197 74 O95202,Q8NCH0,Q6NUK1,O75431,Q9H3H5,P40855,Q9Y487,Q9UHX1,Q9Y5Y5,Q96I36,P51812,O75381 12 |
| Scapular winging 0.3484999001228505 0.8537186587999316 0.3932608931517372 1.0 0.6044655715403197 29 Q9BTV4,Q9H3H5,P02545,Q9Y487,O60313,P50402,P07196 7 |
| Ascites 0.3487655539814341 0.8535734254034466 0.3933413881415231 1.0 0.6044655715403197 31 O43683,P04062,O75787,Q01844,Q14108,Q13510,Q14739,P08236 8 |
| Meningitis 0.5125285221899492 0.852607386978569 0.3938770647448235 1.0 0.6045015309004663 7 Q9NZ08,O15460 2 |
| Abnormality of prenatal development or birth 0.265303445435241 0.8505711342187321 0.3950076299641725 1.0 0.6050904994536117 278 O43909,Q7KZN9,Q8TD16,Q96J42,Q9H2C2,Q9BT22,O43676,P10619,O96000,Q9H3H5,Q6NUK1,Q9Y4P3,Q9NPL8,P40855,Q9Y5Y5,O43772,P03886,P08236,Q9Y619,O43683,O95202,Q3T906,P23786,Q9NX14,Q8N183,Q4J6C6,P50416,Q9NVI7,Q9BUB7,O75844,Q9UHX1,Q13510,Q9Y487,P50570,Q8IUX1,Q15125,Q96CU9,Q12768,Q9Y6M9,P51798,Q70HW3,O60313,P02545,P21964,Q14739,O75381,P40939,P04062,P16435,Q86Y39,Q7LGA3,Q9UBM7,Q93063,Q96I36,P50542,Q9UHJ6,P16278,Q9Y2B2,Q9HC21 59 |
| Decreased circulating total igm 0.4804805594278937 0.8501352250150462 0.3952499095453297 1.0 0.6050904994536117 9 O43909,Q9Y2Q5 2 |
| Abnormality of facial musculature 0.2940788321293103 0.8493321212921454 0.3956965120095326 1.0 0.605304527188978 97 P04062,P07196,P33897,P10253,Q15043,Q9H3H5,O43819,P51798,O60313,Q13510,Q9UHX1,Q9Y5Y5,P40855,P50570,P12235,Q9H9S5,P51812,O75381 18 |
| Scrotal hypoplasia 0.3897170518562299 0.8486800046061826 0.3960593754284587 1.0 0.6056618068909241 20 P16435,Q9Y5U9,P46977,Q6NUK1,P48444 5 |
| Coarse facial features 0.2991536045097881 0.845777084442677 0.3976771114079198 1.0 0.607114255954297 79 O43909,Q3T906,Q7LGA3,P10619,Q96A33,Q9Y2Q5,Q9Y4P3,Q7RTS9,P54802,Q93063,P15586,P16278,O95831,P51812,Q9Y2B2,P08236,P38159,P04066 18 |
| Talipes calcaneovalgus 0.5256477159970253 0.8455541427776686 0.397801516564007 1.0 0.607114255954297 6 P07196,Q9NR77 2 |
| Stiff skin 0.437559020363471 0.8453481687619395 0.3979164743338368 1.0 0.607114255954297 3 O75844 1 |
| Increased muscle lipid content 0.4690097855402967 0.8439141026837408 0.3987174069707646 1.0 0.6078162676595505 10 P23786,Q9Y4W6,Q8NI60 3 |
| Eeg with generalized slow activity 0.4464798559948874 0.8432246939044449 0.3991027902484239 1.0 0.6078162676595505 12 O75503,Q9H3H5 2 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.343614531159935 0.8431310143650381 0.3991551749190387 1.0 0.6078162676595505 34 O95202,Q7LGA3,Q96J42,Q13586,O14521,P21912 6 |
| Abnormality of the abdominal organs 0.2617218493840155 0.8406735915114673 0.40053081895403 1.0 0.609681334124198 407 O43909,O43676,P20674,O96000,P07602,P09601,Q03252,O43772,P03886,P08236,O75787,P50416,Q14108,Q9UHX1,Q13510,Q7Z4L5,Q96CU9,Q96RL7,P47985,Q96MW5,P14174,P00403,Q86Y39,Q9UBM7,P50542,P39210,P16278,Q01844,Q8WWI5,Q7KZN9,Q8N511,Q9H3H5,P14927,Q5XKP0,Q9Y5Y5,Q8N1F7,Q15067,O95202,P23786,Q3T906,Q9NZJ7,P54802,O14521,Q9HC07,Q9NZ08,Q9Y6M9,O75845,P21964,O75381,O76024,P04062,O43681,Q96A33,Q96I36,Q9HC21,Q8NCH0,Q96J42,Q9BT22,Q9NPL8,P40855,Q15392,P35670,Q9NVI7,Q9BUB7,P12235,P21912,P10253,O75431,Q8WTW3,P51798,Q14739,P40939,P15586,Q96HY6,P10619,Q13586,Q9Y4P3,Q6NUQ1,Q9Y619,Q9UJS0,Q9NX14,Q8N183,Q9NWS8,Q8IUX1,P00374,Q9Y5U9,P03915,O75880,P02545,P35610,Q10713,Q9Y6B6,Q9UHJ6,Q16625,P04066 95 |
| Abnormality of the curvature of the vertebral column 0.2558933924558542 0.8400138499469173 0.4009006210722736 1.0 0.609681334124198 367 O43909,Q9BTV4,Q8TD16,Q03252,P08236,O75787,P51648,Q7RTS9,Q14108,O75844,Q9UHX1,Q13510,P55795,Q7Z4L5,Q96CU9,P78318,Q32P28,Q96MW5,P35637,Q9NR77,Q01105,Q7LGA3,Q9H490,Q2TAA5,Q9UBM7,Q93063,P50542,P16278,O95831,Q5BJH7,Q9Y2B2,O75718,Q8NB90,Q9H3H5,O15121,O95202,Q3T906,Q99720,O14521,Q9Y487,P50570,Q9NWM8,Q9HC07,P21964,P04062,Q96A33,Q15043,Q8NCH0,Q9UG56,Q9BT22,P07196,Q9NVI7,P21912,Q15125,Q6ZXV5,Q8WTW3,P50402,Q14739,P16435,Q8TB36,P20700,O14653,Q96HY6,Q6NUK1,Q9Y4P3,O15228,Q5KU26,O75027,P51571,Q96DX4,P51812,Q12768,Q8WVQ1,P02545,Q9NVV0,Q10713,Q9H9S5,P04066 78 |
| Abnormal tricuspid valve morphology 0.4458887106510583 0.8396082722356081 0.4011280595637148 1.0 0.6098292213555468 12 Q12768,Q9NX14,P53701,P21964,P51812 5 |
| Abnormal circulating glutamine family amino acid concentration 0.5239256444073515 0.8372875682956505 0.4024309454091268 1.0 0.6110167093343112 6 Q9UJS0,O96000 2 |
| Sudden death 0.3456524637296876 0.8351034361930604 0.4036594721393562 1.0 0.6120883675949319 27 Q9BTV4,Q9Y4P3,O15460,P02545,P50402,P40939 6 |
| Femoral bowing 0.4559097085868199 0.8310688048937476 0.405934761235643 1.0 0.6150785711523666 11 P16435,Q96DX4,Q9NVV0,Q7RTS9 4 |
| Impaired tactile sensation 0.466289459737846 0.8284744168635597 0.4074018775146983 1.0 0.6164799059172504 10 O15269,Q9NR77 2 |
| Fibrous tissue neoplasm 0.3764400861587041 0.8271819481524815 0.4081339417575729 1.0 0.6170753335030572 22 O14521,Q15392,Q96DX4,P21912 4 |
| Abnormal talus morphology 0.376115007276657 0.8245572621815619 0.4096229935143016 1.0 0.6185593121177618 22 P16435,Q96DX4,O75844,Q9UHX1 4 |
| Aplasia hypoplasia of the scapulae 0.4917351772987486 0.8243628570711533 0.4097334128909633 1.0 0.6185593121177618 8 Q3T906,Q7RTS9 2 |
| Peptic ulcer 0.435183796789916 0.8241265636147812 0.4098676480885328 1.0 0.6185593121177618 13 P04062,Q9Y4P3,P29992,O76024 4 |
| Facial hemangioma 0.486878739504437 0.8240559047907213 0.4099077935127098 1.0 0.6185593121177618 4 P16435,Q12768 2 |
| Abnormal enzyme coenzyme activity 0.2719599979919963 0.8233766382793336 0.4102938439198762 1.0 0.6187431954026723 209 Q8N511,P10619,P20674,Q9H3H5,Q6NUQ1,P07602,Q5XKP0,P40855,Q9Y5Y5,O43772,P03886,Q9Y619,Q92643,P23786,O75787,Q3T906,Q9UJS0,P35670,Q9NZJ7,P50416,O14521,P12235,Q13510,Q9Y5U9,P10253,Q96RL7,Q9HC07,P03915,O75431,Q96MW5,O75845,P51798,O75880,Q16625,Q9NW15,Q14739,O14678,P40939,P04062,Q2TAA5,P22695,Q96A33,O43505,Q5JRX3,Q10713,Q9Y6B6,Q9H9S5,P39210,Q9Y2B2 49 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.4862667954341471 0.8210103929070948 0.4116403483872468 1.0 0.6203743217007286 4 P42345,Q08AM6 2 |
| Female sexual dysfunction 0.4910181955555792 0.8206182283133477 0.4118637614176665 1.0 0.6205113729431811 8 O75298 1 |
| Paraplegia 0.3023688337768968 0.8196851917505931 0.4123955939283352 1.0 0.6207136767224687 59 Q12768,Q7KZN9,P04062,P33897,Q9P0J0,Q8N183,O60313,Q15041,O75298,O00400,O95831,Q9Y619,Q96CU9 13 |
| Numerous nevi 0.3810040705563303 0.8172167029597606 0.4138045988483323 1.0 0.6222692909041726 2 P11802 1 |
| Joint stiffness 0.3021894341713606 0.8171024316781297 0.4138698934297391 1.0 0.6222692909041726 62 P16435,Q9BTV4,P51648,O75431,Q9Y4P3,O15460,P54802,P02545,O75844,P50402,P15586,O76024 12 |
| Arterial thrombosis 0.5196803648740667 0.8169438318675042 0.4139605274247229 1.0 0.6222692909041726 6 Q9NZ08 1 |
| Increased susceptibility to fractures 0.301849145303362 0.8146022819326246 0.4153000038446213 1.0 0.6238823662630553 64 P16435,P04062,Q3T906,Q9Y5U9,P35670,Q32P28,O75845,Q9NVV0,P51798,O15269,Q14108,P39210,O75718,Q14739 14 |
| Concave nasal ridge 0.4848443218299971 0.8139360985441118 0.4156815594042522 1.0 0.6240816921562411 4 Q15125 1 |
| Abnormal ureter morphology 0.3446128782914994 0.8136728356072997 0.4158323999187934 1.0 0.6240816921562411 31 P23786,O75844,Q7LGA3,O76024 4 |
| Eyelid myoclonus 0.4632432729450471 0.8112144672182303 0.4172425189100766 1.0 0.625997424271236 10 Q01105,Q13510 2 |
| Tonic seizure 0.3498510284541703 0.8101158583298407 0.4178735907068378 1.0 0.6264892740615714 26 P07602,Q01105 2 |
| Reduced subcutaneous adipose tissue 0.4627412099874897 0.8083728645983096 0.4188759680838787 1.0 0.6274432473632516 10 Q6NUK1,O75844,P02545,Q13472 4 |
| Abnormality of acid base homeostasis 0.2730930144222848 0.807242474905611 0.4195267989005791 1.0 0.6280164672580096 197 O14949,Q7KZN9,P51970,O43676,P20674,O96000,O43819,Q9NPL8,Q5XKP0,Q9Y619,P03886,P23786,Q9UJS0,Q13277,Q9NX14,Q8N183,Q4J6C6,P50416,O14521,Q9NVI7,Q9BUB7,Q6P4A7,Q9NWS8,P12235,P21912,Q8IUX1,Q96CU9,Q9Y584,P03915,P47985,Q9Y6M9,P00403,Q70HW3,O75880,Q8NI60,P13073,P35610,O14678,P40939,Q86Y39,Q9P0J0,P22695,Q9UBX3,O95169,Q5JRX3,Q10713,Q96I36,P39210,O95831,Q9HC21 50 |
| Arm dystonia 0.5174675638323032 0.8063608873896473 0.4200347922914209 1.0 0.6285760278252447 6 Q99720 1 |
| Hypoplasia of the musculature 0.5171998908005517 0.8050817338416982 0.4207725157638278 1.0 0.6289581066739256 6 Q9NR77 1 |
| Skeletal muscle atrophy 0.273559598325484 0.8048843128865313 0.4208864416470812 1.0 0.6289581066739256 192 Q9Y4W6,Q9BTV4,P51970,Q8TD16,Q13586,O43819,O14979,P38935,P53007,Q15165,Q9NPL8,Q92804,Q9H0B6,O00400,P07196,Q03252,Q9BTW9,Q99720,P49589,P50416,P13473,O14521,Q9NVI7,Q6P4A7,P12235,P21912,Q13510,P50570,P51812,Q12768,Q9NWM8,Q96RL7,Q96MW5,O75477,O15269,O60313,P02545,P50402,P35637,Q96DA6,O95140,Q9NR77,Q8TB36,O43505,Q92581,O75298,P50542,P39210,P16278,O95831,Q9H9S5,Q6UWE0,Q6DKK2,Q9HC21 54 |
| Dyspnea 0.2869594669305352 0.8041832272051418 0.4212911640687369 1.0 0.62918553461784 115 O75419,P51970,O43819,P07602,Q15165,Q92804,Q96L58,P03886,Q9Y619,P23786,Q9NX14,P51571,Q9NZJ7,O75844,Q9UHX1,Q13510,P12235,P10253,P03915,P02545,P35637,P04062,P53701,O95169,O95831 25 |
| Flared iliac wing 0.4878372947491426 0.8040252887407622 0.4213823702169437 1.0 0.62918553461784 8 P16278,O95831,Q3T906 3 |
| Cardiomegaly 0.3304951461146316 0.8032074682421272 0.4218548296412656 1.0 0.6292891789935313 39 P04062,P23786,Q3T906,P10253,Q86YH6,Q15233,P20674,Q9Y4P3,P54802,P50416,P13473,Q14739,P04066 13 |
| Myelopathy 0.5314100756922071 0.8028616323788494 0.4220547143372066 1.0 0.6293703098654587 5 Q93063,Q3T906,P33897 3 |
| Nephrotic syndrome 0.3430037106229314 0.8018734494129645 0.4226261658663643 1.0 0.6294713280717688 29 Q07021,Q8NCH0,O95721,Q86YH6,Q9BT22,P57740,Q14108,O95470,Q03252,P06280,Q8N1F7 11 |
| Rimmed vacuoles 0.3965804267923833 0.8002846175308533 0.4235459133523496 1.0 0.6294713280717688 17 Q86U42,P22626,Q9BTV4,Q13501,O14979,P02545,P50402,P43243,O75190 9 |
| Decreased cd4 cd8 ratio 0.4819440673364256 0.7995350532610955 0.4239802295481525 1.0 0.6296523130004903 4 P17812,Q9H0U3,O00203 3 |
| Irritability 0.2954135583232172 0.7987633332658867 0.4244276553444195 1.0 0.6301170008346311 80 Q9UJS0,Q96RL7,Q5BJH7,Q9NZ08,P49589,Q9NZJ7,O14521,P07602,P21912,Q13510,P50897,O95831,O43772,Q8N1F7,Q15067,P37268,Q5KU26,Q9HC21 18 |
| Hyporeflexia of lower limbs 0.4225596895226261 0.7982172263817875 0.4247444424618305 1.0 0.6303875058590666 14 Q13586,P02545,Q9NR77,P40939 4 |
| Thin eyebrow 0.3916712856693251 0.7941809571711732 0.4270900928268157 1.0 0.6332668549543542 18 Q3T906,O75419,Q9UM00,Q96EK5,Q13608,Q92794,P48449,Q15125,P62304 9 |
| Bilateral tonic clonic seizure 0.2895725191541546 0.7929064101174323 0.4278323523738672 1.0 0.6337655719542042 102 Q9Y4W6,Q96S52,Q8NB90,P07602,P03886,P03905,Q9NQZ5,O75787,Q9NZJ7,P49768,Q13510,P51812,Q5HYK3,Q96RL7,P03915,Q9Y320,P27544,P00403,Q14739,P04062,Q01105,Q86YH6,O43292,Q92581,P50542,Q9Y2B2,Q9HC21 27 |
| Hepatosplenomegaly 0.3225738683824347 0.7896017820926097 0.4297603671741625 1.0 0.6356936889104555 42 P04062,Q3T906,P10619,Q8WTW3,O75845,P51798,Q13510,Q14739,Q96HY6 9 |
| Nausea and vomiting 0.2734458615554898 0.7895124864422182 0.429812534752223 1.0 0.6356936889104555 158 O43676,O96000,Q9Y4P3,P07602,Q15165,Q9NPL8,Q9Y619,P03886,P23786,Q8IZA0,Q9UJS0,Q13277,Q9NX14,Q8N183,P51571,Q9NZJ7,O14521,Q8IUX1,P21912,Q96CU9,Q9Y584,Q9NZ08,P03915,Q9Y6M9,P00403,P35610,P35637,P11117,P40939,Q13423,Q86Y39,P33897,Q2TAA5,P22695,P42892,Q9UBM7,Q93063,Q9Y6B6,P39210 39 |
| Generalized edema 0.5283900769876765 0.7890582998612986 0.4300779328655275 1.0 0.6357772544273796 5 Q9H3H5 1 |
| Delayed social development 0.376390773405709 0.7889512435775843 0.4301405036892327 1.0 0.6357772544273796 2 Q9UJX6 1 |
| Goiter 0.4482488160153572 0.7861031256225274 0.4318070733111812 1.0 0.6374202220306096 11 O14521,P12235 2 |
| Congenital ichthyosiform erythroderma 0.4990270396924304 0.7851925042812824 0.4323407096260583 1.0 0.6375492198259011 7 P04062 1 |
| Focal motor seizure 0.3597347999847299 0.7848660226132794 0.4325321252247476 1.0 0.6375492198259011 24 O14521,Q01105,O75503,Q9H3H5 4 |
| Aplasia involving bones of the extremities 0.4789721268446099 0.7848110658259292 0.4325643511115955 1.0 0.6375492198259011 4 P02545,Q08AM6 2 |
| Thoracolumbar kyphosis 0.4839980453189401 0.7840445695097932 0.4330139586339201 1.0 0.6376099912735875 8 P04062,O43909,Q3T906 3 |
| Abnormality of long bone morphology 0.270076795807254 0.7838061035325241 0.4331538919264344 1.0 0.6376155970406722 209 O43909,Q9UG56,Q96J42,P48444,Q9Y4P3,O15228,Q6NUQ1,P40855,Q9Y5Y5,Q9Y619,P08236,O95202,Q3T906,P38435,Q7RTS9,Q96DX4,O75844,Q9UHX1,Q9Y487,Q15125,Q7Z4L5,P51812,Q9HC07,O75431,Q32P28,Q8WTW3,Q8WVQ1,P51798,P02545,Q14739,P37268,Q9NR77,O75381,P16435,Q02127,Q7LGA3,Q9H490,Q9NVV0,Q9UBM7,Q93063,P50542,P16278,O95831,O75718,Q9Y2B2,Q96HY6 46 |
| Abnormal renal cortex morphology 0.299463781808333 0.7807748001128915 0.4349349578558232 1.0 0.6394335664145249 60 P03915,Q9NZ08,O75431,O14521,P00403,Q14108,P02545,P21912,O95470,P03886 10 |
| Chondrocalcinosis 0.5119100937738883 0.7798504064807786 0.4354789325586967 1.0 0.6398316562437062 6 P02545,P35670 2 |
| Difficulty climbing stairs 0.3892647431812538 0.776553342034389 0.4374223381646733 1.0 0.6420561260405278 18 P54098,P06753,Q9H3H5,P12235,Q9H9S5,O95140,P40939 7 |
| Narrow nose 0.5110023056389477 0.7755299043229694 0.4380266019748446 1.0 0.6425670540714602 6 O75431 1 |
| Abnormal pulmonary thoracic imaging finding 0.3643812659266335 0.7746544200220168 0.4385438910846089 1.0 0.6429231880564344 23 Q9NZ08,P21964,Q13510 3 |
| Myotonia 0.4662861822780524 0.7725573118533392 0.4397844163475159 1.0 0.6441370250693449 9 P02545,P50402 2 |
| Abnormal cry 0.4268162527683805 0.7715455617406952 0.4403836273624024 1.0 0.6444101563778485 13 P38935,P53007,O60313,Q13510 4 |
| Bilateral single transverse palmar creases 0.3841672523619254 0.7706897742796707 0.4408908344911584 1.0 0.6445201760971269 19 O96011,Q13608,P56589,P40855,P50542,Q9Y5Y5,O75381 7 |
| Functional abnormality of the gastrointestinal tract 0.2549517734546513 0.7706404727272794 0.4409200646744637 1.0 0.6445201760971269 314 Q01844,Q9Y4W6,Q9H2C2,Q6NUK1,Q9Y4P3,O43819,O15460,P07602,Q9Y5Y5,Q9UBB4,Q9Y619,P03886,Q15067,O95202,Q8IZA0,P61916,Q8NI22,Q9UJS0,Q99720,P35670,Q8N183,P05067,Q15233,P51571,Q9GZY8,Q9NZJ7,O14521,P49768,Q14108,P12235,Q9UHX1,Q13510,P21912,P55795,P06280,Q12768,Q9Y584,Q96RL7,P29992,Q9NZ08,P03915,Q6ZXV5,P00403,O15269,O60313,P78536,P35637,P21964,Q14739,O14678,Q9NR77,P08183,O76024,P04062,P16435,P33897,Q01105,Q96A33,P42892,O95169,P20700,Q92581,Q9UBM7,Q93063,P15586,Q8WWI5 66 |
| Abnormal electrophysiology of sinoatrial node origin 0.4266477997514726 0.7704901170041906 0.4410092152842211 1.0 0.6445201760971269 13 P06753,O14521,P02545,P50542,P21912,Q9HD47 6 |
| Elevated circulating alanine aminotransferase concentration 0.4343165005923102 0.7690747533615295 0.4418489347635894 1.0 0.6449424775421169 12 O75880,P10253,Q96RL7 3 |
| Pediatric onset 0.2638906157793635 0.768373267089491 0.4422654577572418 1.0 0.6453034852190932 262 Q9Y4W6,P51970,Q9H2C2,P20674,Q9H3H5,Q6NUQ1,P07602,Q9NPL8,Q5XKP0,O00400,P07196,Q03252,Q15067,Q92643,O75027,P23786,O75787,O14773,Q9GZY8,Q9NZJ7,P54802,O14521,Q9NVI7,Q13510,P55795,P50570,P06280,P41440,Q96CU9,P06865,Q15904,Q53H12,Q9Y320,Q5JRA6,Q9Y6M9,Q96TA2,O75431,Q6ZXV5,P51798,O75746,Q70HW3,P02545,P50402,Q8WWV3,Q9NR77,P40939,O95721,Q9P0J0,Q2TAA5,Q8TB36,O43292,O95169,P20700,O00584,Q5JRX3,Q10713,Q93063,Q9Y6B6,Q53FT3,P39210,P16278,O95831,Q5BJH7,O00165 64 |
| Eeg with polyspike wave complexes 0.4808210820819738 0.7675519497194485 0.4427534184972641 1.0 0.6453034852190932 8 Q14108 1 |
| Bilateral ptosis 0.4007310278887691 0.7675513079150538 0.4427537999261672 1.0 0.6453034852190932 16 O60313,O43819,O95169 3 |
| Broad alveolar ridges 0.5236601248618316 0.7674986449741694 0.4427850985256545 1.0 0.6453034852190932 5 Q9UBM7 1 |
| Aplasia hypoplasia affecting the eye 0.2834268924017743 0.7664062356877387 0.4434346236347781 1.0 0.6458991604338752 119 Q96J42,Q13586,Q6NUK1,Q9Y4P3,P07196,Q9NP58,O95202,Q9NX14,O43924,O14521,Q9NVI7,Q9UHX1,P21912,Q15125,P21964,P37268,O95721,P53701,Q7LGA3,O43505,Q96I36 21 |
| Deviation of the 2nd finger 0.5232013081252117 0.7654113450515087 0.4440266394269563 1.0 0.6463474000924816 5 Q9H6K4 1 |
| Abnormal dermatoglyphics 0.2894692432891482 0.763929289186415 0.4449093821253103 1.0 0.647191163315203 91 O43909,O95202,Q02127,Q8NCH0,O75431,Q6NUK1,Q9H3H5,Q9Y4P3,Q9UBM7,P40855,Q9Y487,P50542,Q9UHX1,Q9Y5Y5,Q96I36,Q9Y2B2,P51812,O75381 18 |
| Abnormality of the ischium 0.4744123607282244 0.7622899096545485 0.4458869948310717 1.0 0.6476255031686504 4 Q8IZA0 1 |
| Slow saccadic eye movements 0.4163538470632345 0.7580177574904249 0.4484403522318425 1.0 0.6499055104746133 14 P04062,Q8IV08,Q9Y4W6,Q96RL7,Q8WWI5 5 |
| Skin ulcer 0.3297095539617415 0.7547827061931803 0.4503793720367657 1.0 0.6515146836849143 37 Q03519,Q8IZA0,P04062,Q03518,Q9Y2B2,O15460,O15269,P02545,P39210,Q14739 10 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.260073888519308 0.7516099051730101 0.4522856848818359 1.0 0.6539190961394943 285 O43909,Q8NCH0,Q8TD16,Q96J42,Q9BT22,P48444,Q6NUK1,P04066,Q9H3H5,Q9Y4P3,O15228,Q6NUQ1,Q86XL3,P40855,Q9Y5Y5,Q9Y619,P08236,O43683,O95202,O75787,Q3T906,Q15392,Q9NX14,P51571,O43924,Q7RTS9,Q9NVI7,Q9BUB7,O75844,Q9UHX1,P55795,Q15125,Q7Z4L5,Q12768,O75431,Q96MW5,Q8WTW3,O75845,Q8WVQ1,P02545,Q16625,P21964,O14678,P37268,O75381,Q14739,P04062,P16435,Q02127,P53701,Q7LGA3,Q9UBM7,Q93063,P50542,Q9H9S5,P16278,O95831,Q9Y2B2,Q96HY6,Q9HC21 60 |
| Macular purpura 0.3984140953064561 0.7515418630941815 0.4523266164585742 1.0 0.6539190961394943 16 P04062,P51798,Q8NCH0,P38435 4 |
| Short nose 0.2861020698474876 0.7510068126632442 0.4526485557792465 1.0 0.6541826088460324 106 P04062,P16435,Q12768,Q15392,Q8NCH0,P38435,Q6NUK1,Q8WVQ1,P42892,O75845,Q9Y4P3,P20700,Q9NVI7,Q96DX4,O75844,Q9UHX1,Q9Y487,Q5KU26 18 |
| Multifocal seizures 0.5199741136009903 0.7507510088221119 0.4528025184202433 1.0 0.6542032684393645 5 Q96S52,Q6PJG6 2 |
| Reduced forced vital capacity 0.4718263307142983 0.7495570259300577 0.4535215412160358 1.0 0.654764212005594 4 Q9H9S5 1 |
| Abnormal nipple morphology 0.296176664660734 0.7461017575239084 0.4556059477297565 1.0 0.6567755865095306 68 P10586,Q6NUK1,P48444,Q9H3H5,Q9NP72,Q15067,Q08AM6,O95202,P23786,Q3T906,Q15233,Q12768,Q8WTW3,O14678,Q02127,Q9UM00,Q7LGA3,Q96EK5,Q2TAA5,Q96A33,P56589,Q9UBM7,Q9Y2B2,Q15555 24 |
| Central opacification of the cornea 0.3693351424694872 0.7459974430451333 0.4556689596434675 1.0 0.6567755865095306 2 P17706 1 |
| Anterior chamber synechiae 0.3693351424694872 0.7459974430451333 0.4556689596434675 1.0 0.6567755865095306 2 P17706 1 |
| Low frustration tolerance 0.44110937663381 0.7444155591143584 0.4566251088869908 1.0 0.6572931807088707 11 Q9UHX1 1 |
| Widely spaced incisors 0.4185667752442994 0.7413725547081695 0.45846758062026 1.0 0.6575205595913347 3 Q9BSJ2,Q8WXI9 2 |
| Mydriasis 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Uveal melanoma 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Photopsia 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Metamorphopsia 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Choroidal melanoma 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Lens subluxation 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Inferior lens subluxation 0.4185667752442993 0.7413725547081692 0.4584675806202603 1.0 0.6575205595913347 3 P29992,O75533 2 |
| Abnormal corneal epithelium morphology 0.3843291515467902 0.7404954660628319 0.458999411261014 1.0 0.6579606034659589 18 P51648,Q9NZ08,P02545,O75844,P39210,Q14739 6 |
| Pulmonary hypoplasia 0.336762860050973 0.7402047957317743 0.4591757380853738 1.0 0.6579606034659589 30 O75419,Q6NUK1,O96000,Q9H3H5,Q9UBM7,P02545,O75844,Q14739 8 |
| Bile duct proliferation 0.5176176442750766 0.7400703896266119 0.4592572845251639 1.0 0.6579606034659589 5 O15078,P54098,Q5XKP0 3 |
| Nuclear cataract 0.5034670523928646 0.739783460407544 0.4594313964398844 1.0 0.6579606034659589 6 P08670 1 |
| Aplasia hypoplasia of the eyebrow 0.3045333578616556 0.7395393673737023 0.4595795439669068 1.0 0.6579606034659589 48 O75419,P62304,Q92643,Q08AM6,Q9BTW9,Q3T906,Q15427,Q13608,Q9NVI7,O75844,Q14574,Q15125,O75431,Q92794,P02545,Q9UM00,Q96EK5,Q07954,P48449 19 |
| Recurrent infection of the gastrointestinal tract 0.5174866508183 0.7394772853720492 0.4596172276986801 1.0 0.6579606034659589 5 P78536 1 |
| Abnormal odontoid tissue morphology 0.303868729597015 0.7384456781970611 0.4602436657072521 1.0 0.6586560739910691 49 Q6P4Q7,Q9NX14,P53701,P51648,Q9HC07,Q13586,Q9Y4P3,Q9UBM7,P16278,Q96L58,P21964 11 |
| Preaxial polydactyly 0.3752393196419782 0.7376361066269452 0.4607356081077296 1.0 0.6587562846082434 20 O95202,O43924,Q9UHX1 3 |
| Distal upper limb amyotrophy 0.4125280342017717 0.7333301272854847 0.4633571042103988 1.0 0.6618983458742018 14 P07196,Q9NR77 2 |
| Male sexual dysfunction 0.4204418535147392 0.7317040848036384 0.4643492026713405 1.0 0.6627092216065079 13 O75298,P33897 2 |
| Absent hair 0.4277532004729579 0.7293332791249194 0.4657978201114523 1.0 0.6637969873438014 12 P02545,O75844 2 |
| Hemorrhage of the eye 0.4384708408999209 0.7290700872360021 0.4659587911526421 1.0 0.6637969873438014 11 Q9Y487 1 |
| Aplasia hypoplasia affecting the fundus 0.3348725388561172 0.7254661979724397 0.4681660745558513 1.0 0.6656251312150011 29 O95721,Q9NVI7,Q9UHX1,Q9H9S5,P07196,P37268 6 |
| Distal arthrogryposis 0.5143726977042301 0.7253979146384915 0.4682079520494684 1.0 0.6656251312150011 5 Q96A33 1 |
| Motor neuron atrophy 0.3401524939567105 0.7231659431284779 0.4695779396273045 1.0 0.666800654141465 26 P22626,Q99720,Q13501,Q9UHD2,P38935,P49768,Q15165,Q92804,P35637,Q13510,P43243,Q16637 12 |
| Meningocele 0.4266933004640517 0.7229363377727134 0.4697189973462907 1.0 0.666800654141465 12 Q10713,P21964,O75845 3 |
| Abnormality of the gingiva 0.2970182886811291 0.7219565717983027 0.4703211782651002 1.0 0.6671666865517049 56 O43909,Q96S52,Q9Y4P3,P08236,Q08AM6,P49257,Q3T906,Q8NI22,Q15392,Q14108,Q9Y5U9,O00754,Q5JRA6,O75845,Q14739,P04062,Q9UM00,Q8N766,P20700,Q9UBM7,P16278 21 |
| Abnormality of the musculature of the limbs 0.2695794344977597 0.7207487092313106 0.4710641376690367 1.0 0.6676140456404746 190 O43909,Q9Y4W6,Q9BTV4,Q8TD16,Q9H2C2,Q13586,Q9H3H5,P07602,O00400,P07196,Q99720,P35670,Q9NZJ7,Q7RTS9,O14521,Q9Y487,P12235,Q13510,P21912,P50570,Q15125,Q12768,O15269,O60313,P02545,P50402,Q9NW15,Q14739,Q9NR77,P40939,P33897,Q8TB36,O75298,Q9H9S5,Q9HC21 35 |
| Acute lymphoblastic leukemia 0.3815101765578904 0.7199648015371135 0.4715466676154454 1.0 0.6680957625864327 18 O43683,Q9Y2B2,O00165 3 |
| Abnormal morphology of the abdominal musculature 0.4010863486579666 0.7146587208952236 0.4748199505942136 1.0 0.6718393963469645 15 Q3T906,Q8WVQ1,Q8NCH0,Q6NUK1 4 |
| Ureteropelvic junction obstruction 0.5116082357352423 0.7129316102035629 0.4758880776601835 1.0 0.6726191176102292 5 Q9Y2B2 1 |
| Onset 0.2611865717761989 0.7055922809623019 0.4804417259458562 1.0 0.6780322519826425 444 Q9BTV4,Q8TD16,P20674,O43819,P07602,P50897,Q03252,Q92643,O75787,O14773,O43924,Q9UHX1,Q13510,P55795,Q96CU9,P06865,P78318,Q70HW3,O14678,Q9NR77,Q7LGA3,Q9H490,Q2TAA5,O43292,Q93063,P50542,P39210,P16278,O95831,Q5BJH7,O00165,P51970,Q9H2C2,Q9H3H5,Q5XKP0,Q15067,P08670,P61916,P23786,Q9GZY8,Q9NZJ7,P54802,O14521,P49768,P50570,P06280,P41440,Q15904,Q53H12,Q5JRA6,Q9Y6M9,Q96TA2,Q6PJG6,Q9UGP8,O95140,O76024,P04062,P36551,P46977,Q96EK5,Q99797,Q8WWV3,Q96N66,Q9P0J0,Q9HC21,Q8IV08,Q9NPL8,O00400,P07196,Q9NQZ5,Q13277,Q9NVI7,Q9BUB7,P12235,P21912,Q15125,Q9Y320,O75431,Q6ZXV5,Q8WTW3,P51798,P50402,P40939,Q8TB36,O43505,O95169,P20700,Q9NWW5,Q9Y4W6,Q13586,Q6NUK1,Q6NUQ1,Q5KU26,O75027,Q9NX14,P38435,Q4J6C6,P51571,Q9NWS8,Q12768,Q9Y5U9,O75746,P02545,O95721,O00584,Q5JRX3,Q10713,Q9Y6B6,Q9H9S5,Q53FT3 110 |
| Hoarse voice 0.3331923860717638 0.704416079139253 0.481173695487552 1.0 0.6784633578571242 31 O14521,Q3T906,Q96HY6,Q13510 4 |
| Impairment of activities of daily living 0.2928250106167925 0.7025482223940973 0.4823373397122221 1.0 0.6784633578571242 69 Q12768,O43681,P33897,Q99720,Q9NZJ7,P20700,P07602,O15269,O75298,P07196,P50570,P21964,P51812 13 |
| Tissue ischemia 0.3609141348998801 0.7024355013545122 0.4824076119864879 1.0 0.6784633578571242 22 P05067,Q9NZ08,Q9Y4P3,O15460,P02545,O75844 6 |
| Ocular anterior segment dysgenesis 0.2825672206865005 0.7012308393956489 0.4831589667975371 1.0 0.6788250048102963 108 O95202,Q7LGA3,Q96J42,Q13586,P03915,Q8WVQ1,Q9H3H5,Q9Y4P3,P00403,O14521,Q9NVI7,Q15800,P02545,P21912,O00400,P03886,O76024 17 |
| Delayed closure of the anterior fontanelle 0.4155376546478341 0.7012014263688231 0.4831773198201383 1.0 0.6788250048102963 13 O75381,P40855,Q9Y487 3 |
| Distal lower limb muscle weakness 0.3656723911838475 0.7005150473130736 0.483605711337578 1.0 0.6792231340045624 21 O43909,P33897,P53007,P02545,P07196,O95140,Q9NR77 7 |
| Heart block 0.34956930901231 0.698933983651819 0.4845932883670469 1.0 0.6802022663204219 24 P23786,Q9BTV4,Q9H490,Q07954,O43772,P02545,P50402,P06280 8 |
| Dysphonia 0.3241591088656621 0.6975837149544913 0.4854375688665775 1.0 0.6810054694962329 37 Q96RL7,Q15233,Q9Y4P3,O14521,P53007,P20700,P21912,Q13510,O95140,Q6DKK2 10 |
| Abnormality of the lower urinary tract 0.2616463648018072 0.6975302904566917 0.4854709898905545 1.0 0.6810054694962329 253 O75419,Q8NCH0,Q96J42,P48444,Q9Y4P3,P07602,Q86XL3,P40855,Q9Y5Y5,P07196,Q9Y619,O95202,O75787,Q9UJS0,Q9NX14,Q99720,P51571,P49589,Q9NZJ7,O14521,Q9BUB7,O75844,Q9UHX1,P21912,P12235,P50570,P51812,Q12768,Q9NWM8,Q8WTW3,P02545,P35637,P21964,P37268,Q9NR77,O75381,O76024,P04062,P16435,O43681,P33897,P53701,Q9UBX3,Q92581,P20700,Q9UBM7,Q93063,O75298,P50542,Q8WWI5 50 |
| Supraventricular arrhythmia 0.3821587464047785 0.6973213978943748 0.4856016797859559 1.0 0.6810054694962329 17 P12235,P02545,Q9BTV4,P50402 4 |
| Erectile dysfunction 0.452274216680387 0.6967904553533754 0.4859339401747946 1.0 0.6810636073544997 9 P33897 1 |
| Impotence 0.452274216680387 0.6967904553533754 0.4859339401747946 1.0 0.6810636073544997 9 P33897 1 |
| Elevated hemoglobin a1c 0.4608741747427521 0.6959873137804574 0.4864367745780167 1.0 0.6815644188224439 4 O75431 1 |
| Mildly elevated creatine kinase 0.3303878587556725 0.6941360319095549 0.4875969039324546 1.0 0.6827814343855358 27 P54098,Q16836,Q13501,P06753,Q13608,Q9BPX6,Q969X5,P02545,Q9H9S5,P39210,P50570,P43243,P40939 13 |
| Nail dysplasia 0.3248620450285915 0.6870563692940963 0.4920472072371074 1.0 0.6869594988669481 36 O95202,Q13586,P16615,P42892,P10321,Q9Y619,P51812 7 |
| Schistocytosis 0.50523053367062 0.6842972634840326 0.4937874746315707 1.0 0.6885681843329197 5 O75845 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.4126687346044182 0.6834251969141706 0.4943382027762064 1.0 0.6891309945844497 13 P07602,Q9NZJ7 2 |
| Upper limb amyotrophy 0.3763316330208903 0.6823875496589593 0.4949939262989311 1.0 0.6894771831805536 18 P07196,Q9NR77 2 |
| Short upper lip 0.5047395747588707 0.6821006182988565 0.4951753296796291 1.0 0.6894771831805536 5 O95202,Q8N766 2 |
| Joint subluxation 0.4909517730015457 0.6809329341410164 0.4959139276635413 1.0 0.69030039737772 6 P16278,Q9UHX1 2 |
| Absence of subcutaneous fat 0.4775693551038338 0.6794563389979238 0.4968487629635976 1.0 0.6913961989665749 7 O75844 1 |
| Multifocal epileptiform discharges 0.3301906070578592 0.6781562337948158 0.4976726390086206 1.0 0.6921493667833428 30 Q9NZ01,O75503,Q9UBX3 3 |
| Hyperthyroidism 0.4296057729448959 0.6777894439075348 0.4979052050489452 1.0 0.6921493667833428 11 P21964 1 |
| Abnormal larynx physiology 0.3875479417968343 0.6768853101699563 0.4984787251335159 1.0 0.6921493667833428 16 Q15165,P35637,Q13510 3 |
| Abnormality of the vertebral endplates 0.4484770058233441 0.6764312398654978 0.4987668884739964 1.0 0.692214549811022 9 P51798,O15228,Q7RTS9 3 |
| Cranial nerve compression 0.4186838466484096 0.6748076990064773 0.4997979483029837 1.0 0.6930294818979207 12 O14521,P21912 2 |
| Cardiorespiratory arrest 0.5030091723484316 0.6743675541499308 0.5000776652818311 1.0 0.693212129085557 5 P13473,O43772 2 |
| Abnormal pattern of respiration 0.2650334753402292 0.6706114796172645 0.5024680675264757 1.0 0.69590279054347 207 Q7KZN9,O75419,P51970,P48444,O43819,Q9H3H5,P07602,Q15165,Q92804,O43772,P03886,Q96L58,Q9Y619,O43683,P23786,Q3T906,Q9NX14,Q8N183,Q15233,P51571,O43924,Q9NZJ7,O75844,Q9UHX1,Q13510,P12235,P06280,P51812,Q96CU9,P10253,P29992,P03915,P47985,P51798,O75880,O60313,P02545,P35610,P35637,O14678,O76024,P04062,Q86Y39,Q9P0J0,P53701,P22695,Q96A33,O95169,Q10713,P50542,Q9H9S5,O95831 52 |
| Hyperkinetic movements 0.4026757636608123 0.6701509978248249 0.5027615378307222 1.0 0.69590279054347 14 P07602,Q92581,Q96RL7,Q9NZJ7 4 |
| Megalocornea 0.3942531203038156 0.6693772340371694 0.5032548702825284 1.0 0.6963798559537261 15 O95202,Q3T906,Q9Y4P3 3 |
| Cerebellar dysplasia 0.4882106022887562 0.6681414699963478 0.5040432925281462 1.0 0.6968532414999518 6 Q8WTW3 1 |
| Glaucoma 0.2815255599279821 0.6675261307569826 0.5044361242653594 1.0 0.6971905594744596 103 Q8NCH0,Q9Y4P3,Q86XL3,P40855,Q9Y5Y5,Q96L58,O43683,Q9NX14,Q96HR9,P12235,Q15125,Q12768,Q06136,Q8WVQ1,P21964,O75381,O76024,P53701,O43505,Q9UBM7,P50542,Q9H9S5 22 |
| Aplasia hypoplasia of the breasts 0.4749467708429214 0.666681606365868 0.5049755302271528 1.0 0.6977302016471928 7 Q9Y619,O75419,P02545 3 |
| Loss of ability to walk 0.377446768243959 0.6639703930712293 0.5067092606115369 1.0 0.6995569563198386 17 O14521,P21912 2 |
| Abnormal phalangeal joint morphology of the hand 0.2963366632616506 0.6622376075410432 0.5078189557930242 1.0 0.7004693256572107 51 P16435,Q3T906,Q8WVQ1,Q9BUB7,P02545,O75844,Q9Y619,Q9Y2B2,O76024 9 |
| Pili torti 0.4999722844845333 0.6608310224313794 0.5087206855886657 1.0 0.7010437456008561 5 Q9Y276,P02545,Q13608 3 |
| Skin dimple 0.328440333830341 0.6592450489891982 0.5097384229212492 1.0 0.7020331587659897 31 O95202,Q9NX14,P53701,Q9H3H5,Q9Y4P3,Q15125 6 |
| Gastroesophageal reflux 0.2714702741674952 0.6576097009256398 0.5107889593778936 1.0 0.7030191432377169 134 Q9H2C2,Q6NUK1,Q9Y4P3,P07602,Q9Y619,O95202,Q8IZA0,P51571,Q9NZJ7,P12235,Q9UHX1,P55795,Q12768,Q9Y584,Q6ZXV5,O15269,Q14739,P21964,O14678,P16435,Q01105,Q96A33,Q92581,Q9UBM7 24 |
| Contractures involving the joints of the feet 0.3446077769903228 0.6572738968160372 0.5110048175902893 1.0 0.7030191432377169 24 Q8IZA0,Q9BTV4,O60313,P02545,P50402,Q9H9S5 6 |
| Abnormality of the humerus 0.384656980174161 0.6571597359748079 0.5110782121648758 1.0 0.7030191432377169 16 P16435,Q3T906,Q7RTS9 3 |
| Aplasia hypoplasia of the lungs 0.3202012508737367 0.6569628833455403 0.5112047826361366 1.0 0.7030191432377169 37 O95202,O75419,Q6NUK1,O96000,Q9H3H5,Q9UBM7,P02545,O75844,Q14739,Q7Z4L5 10 |
| Abnormal conjugate eye movement 0.2480411544718453 0.6557163057461488 0.512006675436592 1.0 0.7035035363715288 360 Q7KZN9,O75419,Q8NCH0,Q9BT22,Q6NUK1,O43676,Q15907,O96000,Q9H3H5,Q9Y4P3,O43819,P07602,Q9NPL8,P40855,O95470,Q9Y5Y5,P51572,Q9Y619,P03886,Q9H061,Q15067,Q5KU26,O95202,O75027,P61916,Q15392,Q9NX14,Q99720,Q8N183,P38435,P51571,O43924,Q9NZJ7,Q9NVI7,Q96DX4,Q9Y487,Q9UHX1,P12235,Q8IUX1,P55795,P51812,Q96CU9,Q96RL7,Q9Y6M9,Q96MW5,O60313,Q8NI60,P35637,P21964,Q14739,O75381,P40939,P04062,P16435,Q9NX46,Q02127,Q86Y39,Q7LGA3,Q9H490,Q2TAA5,Q86YV9,Q92581,P20700,Q10713,Q9UBM7,Q93063,Q9H9S5,P50542,Q9P0J0,Q9Y2B2,Q8WWI5,Q8NB90 72 |
| Coarse hair 0.3596865920107496 0.6540528410747958 0.5130777626907748 1.0 0.7040844158932292 21 Q6NUK1,Q96A33,P54802,Q9Y487,P15586 5 |
| Aplasia hypoplasia of the middle phalanges of the toes 0.3535956580732804 0.6516440063019676 0.5146308520935572 1.0 0.7056589318519384 2 Q08AM6 1 |
| Abnormality of the middle phalanges of the toes 0.3535956580732804 0.6516440063019676 0.5146308520935572 1.0 0.7056589318519384 2 Q08AM6 1 |
| Macrogyria 0.4844301400319066 0.6505642170517622 0.5153278354276956 1.0 0.7063784736462384 6 Q15392,O43505 2 |
| Multifocal cerebral white matter abnormalities 0.4970116420491956 0.6476790802673067 0.5171925375127324 1.0 0.7077212520331986 5 P10253 1 |
| Skin pit 0.3908099255309024 0.646686952253534 0.517834569316058 1.0 0.7081860212193913 15 O95202,P16615 2 |
| Focal t2 hyperintense basal ganglia lesion 0.3375116301391039 0.6459065484963908 0.518339878410846 1.0 0.708463376269741 25 Q7KZN9,Q8N183,P03915,Q9P0J0,P03886 5 |
| Infantile spasms 0.3221850995505219 0.6445334796422247 0.5192295547399683 1.0 0.7090586689218693 35 P03886,Q13510 2 |
| Sparse eyebrow 0.3171564441162757 0.6431423465551227 0.5201317390514153 1.0 0.7100836682357415 38 Q9BTW9,Q3T906,Q9UM00,Q96EK5,Q07954,O75431,Q92794,Q9NVI7,P02545,O75844,Q14574,Q15125,P62304,Q92643,Q08AM6 15 |
| Hypoplasia of teeth 0.3482037959576683 0.6420164345698786 0.5208625122279229 1.0 0.7106670571731986 23 O75431,O75844,P51648 3 |
| Limb pain 0.4327791087240141 0.6408948164116909 0.5215910239108417 1.0 0.7110557598243193 10 P36551,P54886,O15269,O75477,O95140 5 |
| Aplasia hypoplasia involving the pelvis 0.3705779863765902 0.6408766677176807 0.5216028161307347 1.0 0.7110557598243193 18 O95202,O75431,Q8WVQ1,Q96DX4,P50542,O95831,Q96HY6 7 |
| Micropenis 0.2880779420394446 0.6396334478489502 0.5224109318791559 1.0 0.7115361456591934 70 P16435,Q02127,Q9NX14,P53701,P46977,Q6NUK1,P48444,O43505,P42892,Q9NVI7,Q10713,Q9UBM7,Q93063,O95470,Q9H9S5,Q03252,Q9Y619 17 |
| Fever 0.2811473196184377 0.6383402184714168 0.5232522368997237 1.0 0.7124748481506703 93 P23786,P10253,Q9HC07,Q9NZ08,Q13586,P03915,Q9NZJ7,P00403,P07602,Q14739,P51572,Q13510,P03886,Q9NR77 14 |
| Mediastinal lymphadenopathy 0.4947882423894437 0.6378323553396268 0.5235828152086106 1.0 0.7127177873981785 5 Q01844,O15460 2 |
| Spastic paraparetic gait 0.4815957728551406 0.6374368414963013 0.5238403372957232 1.0 0.7127353227579032 6 Q15043,Q15041 2 |
| Abnormal sharpey fiber morphology 0.4554161303693229 0.637345184984306 0.523900024819697 1.0 0.7127353227579032 8 P02545,P35670 2 |
| Abnormal 2nd finger morphology 0.4682836779995025 0.6343975108774845 0.5258214336200291 1.0 0.7145191746667294 7 Q9H6K4 1 |
| Abnormal iris pigmentation 0.3360686382799779 0.6335065255904136 0.526402920821011 1.0 0.7148945436722574 25 O96011,Q13608,Q9Y4P3,Q05086,P56589,Q86YV9,P40855,P50542,Q9Y5Y5,O75381 10 |
| Multiple prenatal fractures 0.4676634733215057 0.6314057272251611 0.5277752722053095 1.0 0.7165505434810636 7 Q14739,O75718,Q32P28 3 |
| Abnormality of tibia morphology 0.4113150251397916 0.6309012985691712 0.5281050627292827 1.0 0.7166204910617675 12 P16435,Q32P28,Q93063,Q7RTS9 4 |
| Impaired pain sensation 0.3518978604960964 0.6307697635182933 0.5281910763166149 1.0 0.7166204910617675 22 O15269,P39210,P07196,O95831,Q9NR77 5 |
| Lower extremity joint dislocation 0.2810730623220117 0.6304630806880799 0.5283916505052195 1.0 0.7166204910617675 88 O95202,Q3T906,Q02127,Q96A33,Q6ZXV5,Q8WVQ1,Q9Y4P3,P21964,Q15125,P02545,O75844,Q9UHX1,Q9Y487,Q9H9S5,Q9Y2B2 15 |
| Hypocalcemia 0.3726030456774066 0.6298719911266889 0.5287783394559473 1.0 0.7166204910617675 17 P51798,P21964,P40939 3 |
| Abnormal pupil morphology 0.3963353638327394 0.6298475859766691 0.5287943083250704 1.0 0.7166204910617675 14 O95202,Q9NR77 2 |
| Rigidity 0.2881168692011628 0.629689513253917 0.528897745004383 1.0 0.7166204910617675 62 P04062,O75787,Q15392,Q9Y4W6,O43681,Q9H2C2,Q9H6K4,Q9NZJ7,Q9Y287,P07602,Q9BPX6,P12235,Q96CU9 13 |
| Unilateral renal agenesis 0.3562741753344817 0.6277048177333815 0.5301973287238169 1.0 0.7179301019183063 21 P16435,Q86XL3,Q7LGA3,Q9UHX1 4 |
| Primitive reflex 0.4534853487602766 0.6275960499463962 0.5302685970024585 1.0 0.7179301019183063 8 P17900,P40939 2 |
| Abnormal iliac wing morphology 0.3802468401544925 0.6271976600140104 0.5305296769027348 1.0 0.7180008687120514 16 Q3T906,Q7RTS9,P50542,P16278,O95831,P51812 6 |
| Emphysema 0.3957980604862994 0.6264466476870911 0.5310220209191194 1.0 0.7184596031152962 14 Q03519,O15533,Q03518,P54886,P02545,P06280 6 |
| Retrognathia 0.2806804463643466 0.624454072278111 0.5323294235540836 1.0 0.7200205082088731 88 O75419,Q8NCH0,P48444,Q6NUK1,P53007,Q9Y619,Q15392,Q9NX14,Q4J6C6,Q9BUB7,O75844,Q9UHX1,Q15125,P78318,Q5JRA6,Q8WVQ1,P02545,P37268,Q12797,P04062,P53701,Q7LGA3,Q2TAA5,Q8N766,Q16625,Q8NB90 26 |
| Dyskinesia 0.2839298892469605 0.6226142633134685 0.5335380358935535 1.0 0.7214469284426689 79 P04062,Q01105,Q9BTV4,P03915,Q9H2C2,Q15043,Q9UBX3,O95169,Q9BPX6,P35610,Q96N66,Q9P0J0,Q5BJH7,P03886,Q9NZ01 15 |
| Overriding aorta 0.4381814715821027 0.6216739897523659 0.5341562580214065 1.0 0.7220744336427902 9 Q9NX14,Q9Y4P3 2 |
| Stooped posture 0.3960369163952223 0.6209154773185571 0.5346552371412923 1.0 0.7225404301124677 3 Q9NQ11,P54098 2 |
| Renal hypoplasia 0.3165802280565658 0.6199467479665205 0.5352928469473213 1.0 0.7229849178492656 37 O43924,Q9Y4P3,Q96I36,Q9UHX1,P21964 5 |
| Abnormal midbrain morphology 0.4373826043112942 0.6174547478212659 0.5369348203932955 1.0 0.7239501147732287 9 P04062,Q10713,O43924 3 |
| Fatigue 0.2799214673241987 0.6163605366958596 0.537656592932144 1.0 0.7239738959537363 91 P04062,Q13423,P33897,Q9NZ08,Q9NZJ7,O14521,P07602,Q15165,Q70HW3,O60313,P12235,P21912 12 |
| Exodeviation 0.3225805197920571 0.6162962339201092 0.5376990240119088 1.0 0.7239738959537363 28 P40939,O43819,Q9H3H5,Q9UHX1,P55795,Q8NB90 6 |
| Acute coronary syndrome 0.3591964623758352 0.6161550882745366 0.5377921668230252 1.0 0.7239738959537363 20 Q9NZ08,O75844,Q9Y4P3 3 |
| Abnormal tricuspid valve physiology 0.3449839693521281 0.6158840436201978 0.5379710534392279 1.0 0.7239738959537363 23 Q9NX14,P53701,Q15233,Q6NUK1,O75431,O14521,P40939 7 |
| Conical tooth 0.4368553524996785 0.6146725418333596 0.538770996807701 1.0 0.7244373432018933 9 Q9Y487 1 |
| Epidermal acanthosis 0.4268925260542561 0.6086162922934738 0.5427788028302922 1.0 0.7278219512924308 10 Q06136 1 |
| Pain insensitivity 0.4750452554174261 0.6072765642994856 0.5436673884907566 1.0 0.7279982983678399 6 O15269 1 |
| Short long bone 0.2922874526948266 0.605625461935557 0.5447634905720675 1.0 0.728424832954486 50 Q3T906,Q02127,Q8WVQ1,Q8WTW3,O15228,Q7RTS9,Q96DX4,Q93063,Q9UHX1,P50542,P16278,Q7Z4L5,Q96HY6 13 |
| Aplasia hypoplasia of the skin 0.2860340841600868 0.6018959171032129 0.5472434222021998 1.0 0.7311147146591853 64 O95202,Q9NWM8,Q15392,Q9NX14,Q8NCH0,P53701,O75431,Q6ZXV5,P02545,O75844,Q9Y619,Q15125 12 |
| Adrenal overactivity 0.440401846320955 0.5977182535943621 0.5500279436679731 1.0 0.7335912220051851 4 P04637,P17252,P10644 3 |
| Hypoplastic female external genitalia 0.3832629151926306 0.5972942400482597 0.5503109494102363 1.0 0.7335912220051851 15 P16435,O75419,Q6NUK1,Q9Y619,Q9NP72 5 |
| Abnormal scapula morphology 0.2856921559206314 0.5972476729006689 0.5503420347915595 1.0 0.7335912220051851 63 P16435,Q3T906,Q9BTV4,Q9H3H5,Q7RTS9,P02545,Q9Y487,P50402,O60313,P07196,Q9Y619,Q14739 12 |
| Skeletal myopathy 0.472680582726353 0.5964537261118722 0.5508721581302958 1.0 0.7335912220051851 6 O14521,P21912 2 |
| Pendular nystagmus 0.4472531796374669 0.5962975035430804 0.5509764985085912 1.0 0.7335912220051851 8 O14521 1 |
| Abnormal spermatogenesis 0.3830590364657906 0.595966983936144 0.551197283160568 1.0 0.7336766337948567 15 P04062,Q13423 2 |
| Gaze evoked nystagmus 0.4244084879348198 0.595072884915207 0.5517947526151286 1.0 0.7339322077122394 10 Q9UBB4,Q10713,Q9Y4W6 3 |
| Weak voice 0.4717399490290672 0.5921585457710792 0.5537444256709039 1.0 0.736005140267638 6 P04062,O75787,P54098 3 |
| Respiratory tract infection 0.2637031781343583 0.5919419874520025 0.5538894362603382 1.0 0.736005140267638 173 O43909,Q6NUK1,Q9Y4P3,O15460,P07602,Q9NPL8,P09601,P08236,O95202,Q3T906,Q13277,Q9NZJ7,Q7RTS9,P54802,O14521,Q9Y487,Q13510,Q03519,Q12768,Q9Y5U9,P10253,P78318,Q9Y2Q5,P14174,P51798,P04062,O95721,Q03518,Q86YV9,P20700,Q8N5M9,P50542,P15586,P04066 34 |
| Protein losing enteropathy 0.4387222872595436 0.5897837424431572 0.5553356435307237 1.0 0.7366982950046265 4 Q9BT22 1 |
| Amyotrophic lateral sclerosis 0.3597032736615504 0.5897552375743516 0.5553547565459727 1.0 0.7366982950046265 19 Q15165,P35637,Q92804,Q99720 4 |
| Foot dorsiflexor weakness 0.3119097669089921 0.5889512817654688 0.5558939553281534 1.0 0.7372047810750483 38 P05023,P54098,Q99720,P54886,Q8TB36,P06753,Q96BR5,Q6UWE0,O43819,P38935,O15269,P51149,P02545,P39210,P07196,Q14739,O95140,Q9NR77 18 |
| Neck flexor weakness 0.4706756411586482 0.5873056342788137 0.5569984577622344 1.0 0.7380098534046262 6 Q99720 1 |
| Oral pharyngeal dysphagia 0.3895200344070375 0.5868932029198546 0.5572754350664126 1.0 0.7380098534046262 14 Q13510 1 |
| Abnormal upper motor neuron morphology 0.4136632264081719 0.5868732687794831 0.5572888239735616 1.0 0.7380098534046262 11 Q99720,P54886,Q13501,P43243,P35637 5 |
| Diaphyseal thickening 0.4376834634209831 0.5848869631131993 0.5586237251294213 1.0 0.7391507142672907 4 Q14739 1 |
| Bulbar palsy 0.3811118787638614 0.5833109941356381 0.5596839627758219 1.0 0.7401354267763833 15 O43681,P33897,Q13501,P06753,P53007,P43243,P35637,O75190 8 |
| Abnormality of the septum pellucidum 0.2966335705937505 0.5796846319502216 0.5621273088076508 1.0 0.7420469349792269 45 O95202,Q15392,Q9NX14,P53701,P51571,O43505,Q96N66,Q9NZ01 8 |
| Scaling skin 0.4301865614526737 0.5796613254136497 0.5621430287815561 1.0 0.7420469349792269 9 O75844,P78536 2 |
| Dermal translucency 0.4299252828844978 0.5782966315533713 0.5630638682054192 1.0 0.7425867643863119 9 Q6NUK1,P02545,O75844 3 |
| Hyperventilation 0.4436396029975991 0.5782759739626847 0.5630778126886533 1.0 0.7425867643863119 8 P03915,P47985,P03886 3 |
| Metaphyseal cupping 0.4799054376987 0.5726530653643233 0.5668796221740471 1.0 0.7466997047984355 5 Q14739,P50542 2 |
| Abnormal clavicle morphology 0.3167981364616878 0.5703374035828842 0.5684488765845399 1.0 0.7481355824450646 27 O75431,Q9Y2B2,P02545,O75844,Q9Y619,Q14739,Q7Z4L5 7 |
| Abnormal metabolism 0.2831109082829208 0.5676301726743495 0.5702861147974454 1.0 0.7500353103665585 59 O75787,P33897,Q8N511,P46977,Q2TAA5,Q9BT22,P51571,Q96MW5,Q9H3H5,Q8WTW3,Q9Y6B6,Q9Y487,P41440,O14678 14 |
| Abnormal neuron morphology 0.3187088601162538 0.5675026739651281 0.5703727104025793 1.0 0.7500353103665585 31 P22626,Q99720,Q13501,P54886,Q9UHD2,P38935,P49768,Q15165,Q92804,P35637,Q13510,P43243,Q16637,P22307 14 |
| Ventricular fibrillation 0.4782648382130696 0.565552704076556 0.5716978869040941 1.0 0.7515669105413351 5 Q9HD47,Q9NX14 2 |
| Broad ribs 0.4536059228759972 0.5642681196006999 0.572571674476356 1.0 0.7525044116855364 7 Q7RTS9 1 |
| Paroxysmal ventricular tachycardia 0.3849393088173318 0.5631427445862466 0.5733376868395421 1.0 0.752652548798356 3 Q9HD47 1 |
| Acne 0.3595897675500207 0.5624503958472535 0.5738091912380292 1.0 0.752652548798356 18 Q9NZ08,P21964,Q92542 3 |
| Abnormality of the nasal tip 0.2735352513178954 0.5618815414386469 0.5741967307767406 1.0 0.752829873721698 110 P23786,Q7LGA3,O43292,O43924,Q96A33,P42892,O75845,P21964,O75431,O75844,Q9UHX1,Q9Y487,Q9Y2B2 13 |
| Upper limb muscle weakness 0.3158494196388533 0.5617801352367734 0.574265828097273 1.0 0.752829873721698 27 P36551,Q9BTV4,P02545,P50402,P07196,P50570,O95140 7 |
| Abnormality of the tonsils 0.452720481855227 0.5600859494141948 0.5754208137374794 1.0 0.7541329299234342 7 Q96DX4,P21964 2 |
| Abnormal insulin level 0.3266100802359922 0.5528213408659741 0.5803857537403214 1.0 0.7587292410046512 25 O75431,Q96HR9,O75844,P40939 4 |
| Abnormal t wave 0.3824647122692723 0.550429385965275 0.5820248978027007 1.0 0.7602355329915924 3 P51608,P46976 2 |
| Occipital meningocele 0.4624164928429106 0.5499110583318627 0.5823803790658166 1.0 0.760487787996734 6 P21964 1 |
| Abnormal upper limb bone morphology 0.2694181154659185 0.5463997724136078 0.5847911665165106 1.0 0.7627852475531428 122 O43909,Q6NUK1,Q9Y4P3,O15228,Q96L58,P08236,O95202,Q3T906,O43924,Q7RTS9,Q96DX4,O75844,Q9UHX1,P51812,O75431,Q32P28,Q8WVQ1,P51798,P02545,Q14739,P16435,Q02127,Q7LGA3,Q9UBM7,Q93063,P50542,P16278 27 |
| Pectus excavatum 0.2748625827205336 0.5457497523094834 0.5852379674264618 1.0 0.7628139119820834 96 O43909,Q8NCH0,Q9BTV4,Q9Y4P3,O14521,Q9Y487,Q9UHX1,P21912,P51812,P78318,O75431,P02545,P50402,P04062,Q02127,Q7LGA3,Q9H490,Q96A33,Q92581,O75718,Q9Y2B2 21 |
| Cerebral calcification 0.2981056788374298 0.5446467438838763 0.5859964992129139 1.0 0.7634304263098389 43 P23786,P03915,O75845,P00403,O00584,O60313,P03886 7 |
| Hypertriglyceridemia 0.3361131445080405 0.5444952318949557 0.5861007286528994 1.0 0.7634304263098389 23 Q9UJS0,O75431,P02545,P50402,O95470 5 |
| Abnormality of hair pigmentation 0.3138258437778827 0.5435720367765076 0.5867360068018357 1.0 0.763470425848709 27 Q3T906,Q9Y2Q5,Q86YV9,P02545,P37268 5 |
| Hemimegalencephaly 0.3811074918566771 0.543484752604966 0.5867960861540009 1.0 0.763470425848709 3 P42345,P49815 2 |
| Cutaneous photosensitivity 0.319787771944748 0.5432663721304601 0.5869464140651581 1.0 0.763470425848709 26 Q14108,Q06136,P37268 3 |
| Agnosia 0.4058060471966376 0.5428228037326002 0.5872518108735361 1.0 0.7636556030348814 11 P05067,O75787,P33897,O96008 4 |
| Abnormal oral mucosa morphology 0.2806527782322143 0.5423919706546421 0.5875485098206239 1.0 0.7638293699694151 72 O43909,P04062,Q3T906,Q8NI22,Q15392,Q9Y5U9,P33897,Q9NZ08,O75431,Q9Y4P3,O75845,P20700,Q14108,Q9UBM7,Q14739,P08236 16 |
| Pes cavus 0.2707405131254424 0.5398579203542955 0.5892950194289011 1.0 0.7656800865761939 116 P05023,O00400,P07196,Q99720,Q9H6K4,P49589,P13473,Q96DX4,P50570,Q12768,Q96RL7,O15269,O60313,Q8NI60,P02545,Q9NW15,Q14739,Q9NR77,P40939,P04062,Q7LGA3,Q8TB36,Q10713,O75298,P50542,P39210,O95831 27 |
| Increased blood pressure 0.2750843540202034 0.5398520881128691 0.5892990418674593 1.0 0.7656800865761939 89 P04062,P16435,P03915,P42892,P21964,Q9Y4P3,P00403,O14521,Q9BUB7,Q10713,P02545,O75844,P21912,P35610,P03886,Q9NP58 16 |
| Limb girdle muscle atrophy 0.3595567870605141 0.5391572876280694 0.589778329408186 1.0 0.7658994842204417 17 Q9BTV4,O14979,P02545,P50402,Q9H9S5 5 |
| Abnormal blood inorganic cation concentration 0.2992780326790646 0.5344481299007896 0.5930315273059228 1.0 0.7691301700551375 42 Q15043,Q9Y4P3,O14521,P51798,P21912,P21964,P40939 7 |
| Abnormal vitreous humor morphology 0.4214433346768153 0.5343061837789553 0.593129714591851 1.0 0.7691301700551375 9 Q9NX14,P53701,P29992 3 |
| Abnormality of coagulation 0.2804224761628475 0.53389613322623 0.5934133974932578 1.0 0.7691301700551375 70 Q9UJS0,Q8NI22,P38435,Q13586,P51571,P47985,Q96MW5,Q9H3H5,Q6NUQ1,Q4KMQ2,Q5XKP0,P40855,Q9Y487,Q9Y5Y5,Q9Y619,O75381,P40939 17 |
| Dry skin 0.3130150293546878 0.5309128712566599 0.5954791579677858 1.0 0.7715696752202238 33 Q06136,P51648 2 |
| Abdominal obesity 0.4257398859625494 0.5292216089129905 0.5966517282024522 1.0 0.7723096960688118 4 P40818,O75312,O00170 3 |
| Abnormality of the antitragus 0.4256232843548442 0.5286842570510016 0.5970244998966876 1.0 0.7723096960688118 4 Q92643,Q92794 2 |
| Lethargy 0.2744052274618349 0.528662517083678 0.5970395835749718 1.0 0.7723096960688118 88 O43676,P20674,O96000,Q9NPL8,Q9Y619,O43772,P03886,P23786,Q9UJS0,Q9NX14,Q8N183,Q96IX5,P50416,Q9NWS8,P12235,Q8IUX1,Q96CU9,Q9Y6M9,P40939,Q86Y39,Q9HC21 21 |
| Abnormality of the coagulation cascade 0.2986141535466927 0.5272848308325913 0.5979958066534388 1.0 0.7733330641537015 42 Q9UJS0,Q8NI22,P38435,Q9H3H5,Q6NUQ1,Q5XKP0,Q9Y487,Q9Y619,P40939 9 |
| Abnormal central sensory function 0.469286017574158 0.5270246520058784 0.5981764693565912 1.0 0.773353183126214 5 P33897 1 |
| Pseudoepiphyses 0.4569071519393898 0.5252448997919866 0.5994129557448544 1.0 0.7747379372817048 6 O95202 1 |
| Decreased activity of mitochondrial complex ii 0.456340800406701 0.5227226720572242 0.601167258493656 1.0 0.7767910175956648 6 O14521 1 |
| Tremor by anatomical site 0.3129698065000253 0.5214834027940642 0.6020300645992267 1.0 0.7774769293032198 32 Q9Y4W6,Q96RL7,Q99720,P20700,P07196,Q9NP58,Q9NR77 7 |
| External ear malformation 0.3279792924124748 0.5195718029516757 0.6033620552443946 1.0 0.7789823227025204 24 Q8NCH0,O96011,Q13608,P56589,P40855,O15360,P50542,Q9Y5Y5,Q8IWT6,Q15555,O75381 11 |
| Polyhydramnios 0.279175369060087 0.5167249839753116 0.6053481529146305 1.0 0.7804708913438286 59 O43909,O43683,P04062,P21964,P51798,Q9NVI7,Q14739,Q70HW3,P02545,O75844,Q9UBM7,P50570,Q15125 13 |
| Short thorax 0.4543886046343258 0.5140484517521386 0.6072181160252825 1.0 0.7817729783965736 6 Q7RTS9 1 |
| Regional abnormality of skin 0.2591144801721741 0.5138462437287977 0.6073594936774405 1.0 0.7817729783965736 161 Q8NCH0,Q6NUK1,Q9H3H5,Q9Y4P3,P40855,Q9Y5Y5,O95202,O14521,Q9Y487,Q9UHX1,P21912,P51812,Q06136,O75431,P42167,P02545,P78536,Q14739,O75381,Q02127,O95721,Q7LGA3,P16615,Q96I36,Q9Y2B2 25 |
| Premature skin wrinkling 0.3411682031599711 0.5125968719801728 0.6082333417395596 1.0 0.7826826848099168 21 Q6NUK1,O75844,Q9Y487 3 |
| Type i transferrin isoform profile 0.4000190591968168 0.5107570133429004 0.6095212129586591 1.0 0.7836940328021849 11 Q9BT22,P51571,Q9H3H5 3 |
| Congenital contracture 0.2849409627593359 0.5069015923814731 0.6122238683243748 1.0 0.7863184764423061 48 Q8NCH0,Q8TD16,Q96S52,Q08209,P53007,Q9BTW9,Q15392,Q96AA3,P06753,O75844,P50570,Q96AY3,Q969X5,P02545,P04062,Q96A33,Q92581,Q99567,Q9UHJ6,Q9H9S5 20 |
| Diaphragmatic weakness 0.4527175140773498 0.5066481018711121 0.6124017510806006 1.0 0.7863184764423061 6 Q9NR77 1 |
| Astrocytosis 0.4158493121321329 0.5056498946319065 0.6131024484783114 1.0 0.7868739916786531 9 P42345,P54098,P49768 3 |
| Aplasia hypoplasia involving the skeletal musculature 0.4075985763585965 0.5048183235538406 0.6136864447800217 1.0 0.7871049582008821 10 O43505,Q9NR77,Q9Y487 3 |
| Neonatal hypoglycemia 0.3831852549277109 0.5045564493202606 0.613870404777731 1.0 0.7871253698272358 13 P31751,P42345,O43772,Q96DA6,Q9UJX6,P40939 6 |
| Orofacial dyskinesia 0.4283625393856196 0.503247975568936 0.6147899383326236 1.0 0.7878730700820818 8 Q9BPX6 1 |
| Vitreous hemorrhage 0.4186804235677622 0.4969187520603252 0.6192463472687382 1.0 0.7922834992097159 4 P35222,P29992,O75533 3 |
| Nasogastric tube feeding 0.3082061634147218 0.4933505011973237 0.621764950863914 1.0 0.7939877398709305 27 Q9NZ01,Q9GZY8,P33897 3 |
| Intracranial hemorrhage 0.3096926877802425 0.4929459791393729 0.6220507580232135 1.0 0.794118931255942 29 P04062,P23786,Q8NI22,Q9H3H5,O14521,O75844 6 |
| Anhidrosis 0.449559030303905 0.4927252089099602 0.6222067629609964 1.0 0.794118931255942 6 P20700,P04066 2 |
| Respiratory failure requiring assisted ventilation 0.4131715339275001 0.4920413163622476 0.6226901360542294 1.0 0.794302994901419 9 P38935,Q3T906,P10253 3 |
| Excessive salivation 0.3078503421741677 0.4917274226758016 0.6229120496012377 1.0 0.7943697360011427 34 O43909,O75787,P35670,Q96RL7,P55795,Q92581,P15586,Q03252,P51812,Q9NR77 10 |
| Hydrocephalus 0.2717948005988188 0.4914803270482386 0.623086762994467 1.0 0.7943762650697015 91 Q96J42,Q6NUK1,P40855,P08236,O95202,P23786,Q15392,Q9NX14,Q15125,Q12768,P51798,P21964,P04062,P16435,P53701,Q9H490,O43505,Q9UBM7,Q10713,Q9H9S5 20 |
| Hypoplastic vertebral bodies 0.4483325423145182 0.4873419672342502 0.6260160117665052 1.0 0.7972427947564737 6 Q6NUQ1,Q14739 2 |
| Metaphyseal irregularity 0.3800401961180107 0.4859920110602101 0.6269728301700406 1.0 0.7979777164462011 13 Q96DX4,Q96HY6,Q7RTS9 3 |
| High pitched voice 0.3718154677894233 0.4775089421129416 0.6329997548206778 1.0 0.8030775123620137 14 O75431,O75844 2 |
| Lipoatrophy 0.3321047502057013 0.4765947418277942 0.6336507284075992 1.0 0.8032017664843776 22 Q6NUK1,O75431,P42167,P02545,Q03252,P04066 6 |
| Generalized limb muscle atrophy 0.4021520818614594 0.4761700562985125 0.6339532302930708 1.0 0.8032017664843776 10 P06753,P49589,O43819 3 |
| Distal muscle weakness 0.2741618727083514 0.4752586039880328 0.6346026607973254 1.0 0.8035898521694166 78 O43909,P22626,Q9Y4W6,Q8TD16,Q9H3H5,P38935,P53007,P07196,Q99720,P06753,Q9Y3E5,P50570,P41440,Q96RL7,Q96BR5,O15269,P02545,P35637,O95140,Q9NR77,P40939,Q86U42,P36551,P54098,P33897,Q8TB36,P46976,P39210,O95831,Q6UWE0,P51149 31 |
| Facial diplegia 0.384358217562408 0.4743245754445345 0.635268469296635 1.0 0.8037810670409072 12 P12235,Q96TA2,O43819,Q9H9S5 4 |
| Abnormal labia morphology 0.3500126679294234 0.474075257358616 0.6354462419311631 1.0 0.8037888731313982 17 P16435,O75419,Q6NUK1,P02545,Q9Y619,Q9NP72 6 |
| Abnormal conjunctiva morphology 0.3068309817522718 0.4722512427243573 0.6367474677060321 1.0 0.8041895268595429 33 P10619,Q9NZ08,O14521,P21912,Q13510,Q9NW15,Q14739 7 |
| Vertebral clefting 0.4092382083562487 0.4721872830967816 0.6367931159526141 1.0 0.8041895268595429 9 O75845 1 |
| Abnormality of complement system 0.4130952170141236 0.4717113148556796 0.6371328597176529 1.0 0.804272757125837 4 P02545 1 |
| Abnormality of the basal ganglia 0.2694956945031185 0.4675026058912986 0.6401403281269111 1.0 0.8063814879939347 99 Q7KZN9,O43819,P03886,P23786,Q8N183,Q9GZY8,Q9BPX6,Q9NZ01,Q96CU9,Q96RL7,P29992,P03915,P00403,O60313,Q8NI60,Q96DA6,P04062,P16278,O95169,O95831,Q96N66,Q9P0J0,Q8WWI5 23 |
| Spastic dysarthria 0.4081040557400593 0.4664934734835219 0.6408623181122841 1.0 0.8067183816280404 9 Q8WVX9,Q9Y4W6,Q13608,P54886 4 |
| Osteolysis 0.3077469197227678 0.4658090096456722 0.6413522154995253 1.0 0.8071181562062806 31 P04062,O75431,Q14108,P02545,O75844,Q9Y2B2 6 |
| Abnormality of the lymphatic system 0.2570141260801454 0.4655144928196142 0.6415630607273761 1.0 0.8071666334802658 168 Q96J42,Q9BT22,P10619,Q13586,O15460,Q6NUQ1,P07602,P08236,O95202,Q3T906,Q15392,Q9UJS0,P35670,Q9NZJ7,P54802,O14521,Q14108,Q96DX4,Q13510,P10253,Q96RL7,Q9NZ08,Q8WTW3,P14174,O75845,P51798,P02545,P21964,Q14739,P04062,Q96A33,Q10713,P50542,P16278,Q16625,P15586,Q96HY6,P04066 38 |
| Dyslexia 0.3999688834129095 0.4647787081330339 0.6420899368609367 1.0 0.8074876921396843 10 Q13586,Q9H6K4 2 |
| Abnormal labia minora morphology 0.4314758610868239 0.4616982312187794 0.6442977396860523 1.0 0.8095200141334412 7 P16435,Q9Y619,O75419 3 |
| Aortic valve stenosis 0.3758432905091255 0.4614098793695645 0.64450456488868 1.0 0.8095627197475401 13 P04062,Q12768,P02545,O75844,Q15125 5 |
| Advanced eruption of teeth 0.3810840225243863 0.4558452948934946 0.6485012300801711 1.0 0.8130566813960175 12 P51812,P02545,O75844 3 |
| Lacrimation abnormality 0.3332176211204799 0.4532618684551505 0.6503601870139186 1.0 0.8149510743641505 21 O14521,Q15043,Q9Y4P3 3 |
| Pituitary growth hormone cell adenoma 0.4086342655444134 0.451815386640079 0.6514019841600871 1.0 0.8156019496941612 4 Q14697,O00170,P10644 3 |
| Polycystic liver disease 0.4086342655444129 0.4518153866400762 0.6514019841600891 1.0 0.8156019496941612 4 Q14697,Q9UGP8,P14314 3 |
| Fine hair 0.3287194988097793 0.4507948412965236 0.6521374196843919 1.0 0.8161752820883007 22 Q3T906,Q9Y2B2,P33897 3 |
| Misalignment of incisors 0.4083627477599892 0.4506114983989588 0.6522695779424743 1.0 0.8161752820883007 4 Q99496,Q9BSJ2,Q8WXI9 3 |
| Hypoplastic fingernail 0.3465010346359168 0.4504546684175425 0.6523826336760457 1.0 0.8161752820883007 17 O75431,Q14739,P51812 3 |
| Abnormality of pain sensation 0.3052196836494679 0.4491486961360651 0.653324394085298 1.0 0.8169171014136507 32 Q8NCH0,P33897,O15269,P39210,P07196,O95831,Q9NR77 7 |
| Entropion 0.3968911879304787 0.448814375314392 0.6535655678067724 1.0 0.8170005656810575 10 O75844 1 |
| Functional abnormality of the middle ear 0.2672122113326909 0.4475283959195441 0.654493590028983 1.0 0.8172275942444506 106 O95202,P16435,Q3T906,Q9NWM8,Q02127,Q7LGA3,Q6NUK1,O43924,O75845,P21964,O14521,Q96HR9,O75844,P21912,P02545,Q9Y2B2,O00165 17 |
| Abnormally folded helix 0.3282030917022475 0.446876620079597 0.6549641457073134 1.0 0.8172275942444506 22 P23786,Q9Y2B2 2 |
| Congenital malformation of the right heart 0.3964960839515979 0.4467731308531064 0.6550388733391421 1.0 0.8172275942444506 10 Q12768,P40855 2 |
| Osteolysis involving bones of the upper limbs 0.3964866602929321 0.4467244681132943 0.655074012986359 1.0 0.8172275942444506 10 O75431,O75844 2 |
| Pancreatitis 0.3189714752118817 0.4466289931410475 0.6551429582382391 1.0 0.8172275942444506 24 Q9UJS0,P03915,Q9NZ08,P00403,P03886 5 |
| Decreased muscle mass 0.3391184675360325 0.4423964906477586 0.658202318054411 1.0 0.8192983411551583 19 O95202,Q8NCH0,Q9Y487,Q92581 4 |
| Mild microcephaly 0.4270984893680614 0.4419485675764018 0.6585264244585867 1.0 0.8193315782239128 7 O14521 1 |
| Hip dislocation 0.2735417177383487 0.4416344041748727 0.6587537838580819 1.0 0.8193315782239128 71 Q8TD16,P53007,Q96L58,Q15738,Q08AM6,O95202,Q9BTW9,Q3T906,P06753,Q15427,Q9Y487,Q9UHX1,Q9Y3E5,O75844,Q8NBU5,Q969X5,P02545,Q02127,Q96A33,P36543,Q9UBM7,Q9H9S5,Q9Y2B2 23 |
| Xerostomia 0.3520265945433614 0.4403422343347979 0.6596892560064251 1.0 0.8198419939331641 16 Q13501,Q15165,Q92804,P43243,P35637,Q14739,P55011 7 |
| Ecchymosis 0.3719071268240249 0.4385660868924173 0.6609759745619666 1.0 0.8207877690477866 13 P04062,Q8NCH0 2 |
| Turricephaly 0.3718343237426944 0.4381455796652393 0.6612807552277982 1.0 0.8209485972666332 13 P16435,Q6NUK1,P21964 3 |
| Neuroendocrine neoplasm 0.3778521993819944 0.4377415605156387 0.6615736383512612 1.0 0.8210945739367533 12 O14521,P21912 2 |
| Abnormal pulmonary interstitial morphology 0.3039469224338278 0.437383653910648 0.661833136663289 1.0 0.8211990495710849 32 P04062,Q14108,Q13510,P09601 4 |
| Sleep wake cycle disturbance 0.4365661505025908 0.4364013120217242 0.6625455872070547 1.0 0.8216477443679757 6 Q05086,Q14683,Q9UBM7,Q8N3U4,Q9Y4R8 5 |
| Hypoplastic facial bones 0.3440821278047176 0.4342966367693958 0.6640730458150457 1.0 0.8233240197452817 17 P16435,Q7RTS9 2 |
| Typical absence seizure 0.364583622289883 0.4339400781783166 0.6643319551250899 1.0 0.8234270647806089 14 Q13510 1 |
| Abnormality of skeletal muscle fiber size 0.3220157418640974 0.4333662462417168 0.6647487181037639 1.0 0.823725660211119 23 P22626,P54098,Q13586,P06753,Q9BPX6,P02545,O60313,O95831,O75190 9 |
| Renal fanconi syndrome 0.3583061889250812 0.4301945400730045 0.6670541333698741 1.0 0.825926925906553 3 Q01968,Q9Y276 2 |
| Abnormal oral frenulum morphology 0.3569330864189668 0.4297826645166364 0.6673537443195472 1.0 0.8260795291735621 15 O43924 1 |
| Accessory spleen 0.4128780153135885 0.4294534385777269 0.6675932715405526 1.0 0.8261576971984012 8 O95202 1 |
| Premature birth 0.2752392843991542 0.420982728835906 0.6737676936264378 1.0 0.8322594612199986 53 P04062,Q9NX14,O43676,P51798,Q9BUB7,P40855,O75844,Q9Y5Y5,O75381 9 |
| Poor suck 0.3014410958748987 0.4189017139310707 0.6752879644217671 1.0 0.8332583839176916 29 Q8TAQ2,Q15233,P22695,O43819,O95169,P53007,Q9UBM7,Q12959,P50542,P40939 10 |
| Biliary cirrhosis 0.421194867367399 0.4156336028298596 0.6776781339687075 1.0 0.8350662312746697 7 Q14739,P09601 2 |
| Neurofibromas 0.4316296816460969 0.41543599540264 0.6778227607400287 1.0 0.8350662312746697 6 P21912 1 |
| Limb tremor 0.4313388252624106 0.4142086900170842 0.6787212781736955 1.0 0.8353753919366461 6 Q9NR77 1 |
| Abnormal superior cerebellar peduncle morphology 0.3548973051495773 0.4138752928086922 0.6789654391765183 1.0 0.8353753919366461 3 Q10713 1 |
| Symptomatic seizures 0.4092511292084377 0.4125486072512603 0.6799373611990362 1.0 0.8363515230715036 8 Q13423,P31751,P40939,P53985 4 |
| Thickened nuchal skin fold 0.3273285254407311 0.409999778168065 0.6818061102724244 1.0 0.8382099266446289 21 O96011,Q13608,P56589,P49768,P40855,P50542,Q9Y5Y5,Q15125,O75381 9 |
| Aphasia 0.2765361684725342 0.4092997426120964 0.6823197043880853 1.0 0.8385501589906953 48 P03905,Q9NX14,P53701,Q7LGA3,P05067,P03915,O96008,P21964,P49768,P00403,P03886 11 |
| Poikilocytosis 0.3402858761643965 0.4091345717873698 0.682440906505664 1.0 0.8385501589906953 17 Q9NP58,Q9Y6B6,Q96RL7,O75845 4 |
| Abnormal number of permanent teeth 0.353691639522258 0.4081464289295755 0.6831661753199092 1.0 0.8387812228567377 3 Q14696,Q12959 2 |
| Diastema 0.4190217391304271 0.4060443324542783 0.6847100269269726 1.0 0.8400161776128705 7 Q9BSJ2,P17252,O15347,P41229,Q8WXI9,Q8TC12 6 |
| Thin skin 0.3036009117299811 0.4045811738930047 0.6857853991503391 1.0 0.8407593418114464 26 Q6ZXV5,Q9Y619,O75431,O75844 4 |
| Single transverse palmar crease 0.2718392780566985 0.4040273500316694 0.6861926072535667 1.0 0.8408300814677289 56 O43909,Q96S52,Q15907,Q9H3H5,P57740,P40855,Q9Y5Y5,Q08AM6,O95202,Q9NXE4,Q13608,Q9UHX1,Q01082,P51812,O75381,O96011,P56589,Q9UID3,Q96I36,P50542,O43933 21 |
| Unusual infection 0.2494149619340546 0.4028341304614662 0.6870702511009517 1.0 0.8413055309116757 232 O43909,Q9BT22,Q13586,Q9Y4P3,O15460,P07602,Q9NPL8,P09601,Q03252,P08236,O95202,O75787,Q3T906,Q13277,Q9NZJ7,Q7RTS9,P54802,Q9BUB7,Q9Y487,Q13510,Q03519,Q12768,Q9Y5U9,P10253,P78318,Q9NZ08,Q9Y2Q5,Q8WTW3,P14174,P51798,P78536,Q14739,O76024,P04062,Q13423,Q03518,Q9H490,Q96A33,Q86YV9,P20700,Q8N5M9,Q9UBM7,P50542,P15586,O00165,P04066 46 |
| Follicular hyperkeratosis 0.4181760935191527 0.4023274176325672 0.6874430791911681 1.0 0.8413055309116757 7 Q9NWM8 1 |
| Abnormal aortic valve physiology 0.2761894556645702 0.4020049771471506 0.6876803633478838 1.0 0.8413055309116757 47 Q12768,P04062,Q3T906,Q9NZ08,Q6ZXV5,Q9Y4P3,P02545,O75844,Q9UHX1,Q15125 10 |
| Aganglionic megacolon 0.3082447202272248 0.4000830519126127 0.6890953467164651 1.0 0.841840965696858 25 P33897,Q96EK5,Q9Y2B2,Q15427,P42892,O15078,Q10713,Q9UBM7,P21964,Q9UJX6 10 |
| Infantile onset 0.2520859855236212 0.3992871802159199 0.6896816120747808 1.0 0.8421451175595082 207 Q9Y4W6,P51970,Q9H2C2,P20674,Q9H3H5,Q6NUQ1,P07602,Q9NPL8,Q5XKP0,O00400,Q15067,Q92643,P23786,O75787,Q9GZY8,Q9NZJ7,O14521,Q9NVI7,P55795,Q96CU9,P06865,Q15904,Q53H12,Q9Y320,Q5JRA6,Q9Y6M9,Q6PJG6,Q96TA2,O75431,Q6ZXV5,O75746,Q70HW3,O95140,Q9NR77,P40939,O95721,Q9P0J0,Q2TAA5,Q8TB36,O43292,O95169,P20700,O00584,Q5JRX3,Q10713,Q93063,Q9Y6B6,Q53FT3,P39210,O95831,Q5BJH7,O00165 52 |
| Tongue thrusting 0.3961444474613222 0.3973337314123574 0.6911213762480339 1.0 0.8431810575960736 4 Q14683,Q05086,Q9NS87 3 |
| Palpitations 0.3324485472329149 0.3960481161697319 0.6920695325987756 1.0 0.8433564489683798 19 O14521,P12235,P21912 3 |
| Melena 0.3080054274084249 0.3959877765495512 0.6921140456521033 1.0 0.8433564489683798 2 Q9UER7 1 |
| Nonprogressive cerebellar ataxia 0.3956813175729147 0.395350454097396 0.6925842687885737 1.0 0.8437099388831415 4 O75027 1 |
| Bradykinesia 0.2986155775925544 0.3938872796758768 0.6936642621386073 1.0 0.8445862760221566 29 P04062,O75787,Q96IX5,Q15043,P12235,Q6DKK2 6 |
| Prolonged partial thromboplastin time 0.416133773958418 0.393385129336075 0.6940350512485822 1.0 0.8448181341082014 7 Q8NI22,P28288,P38435 3 |
| Macular atrophy 0.4160599594180828 0.3930628545434307 0.6942730583865528 1.0 0.844888284095249 7 P04062 1 |
| Atonic seizure 0.3072555386685502 0.3920436053351603 0.6950259950835205 1.0 0.8453652975775668 25 Q01105,Q13510 2 |
| Abnormal umbilicus morphology 0.2694931392153072 0.3906788006876764 0.6960346705884857 1.0 0.8461138941506153 73 Q3T906,Q9NWM8,Q8NCH0,Q6NUK1,Q9Y4P3,P21964,Q9BUB7,P02545,Q9Y487,O75844,Q14739 11 |
| Abnormal uvea morphology 0.2611639532238466 0.3900919861215186 0.6964685285168457 1.0 0.8461138941506153 118 Q96J42,Q13586,Q9Y4P3,Q5XKP0,P40855,Q9Y5Y5,Q9Y619,O95202,Q9NX14,O14521,Q9UHX1,P21912,Q12768,P78318,P29992,P04439,P14174,O75381,Q12797,Q9NR77,P40939,P53701,Q7LGA3,O43505,Q86YV9,Q9UBM7,Q10713,P50542,Q9H9S5 29 |
| Short ribs 0.3504460400533122 0.389989031685387 0.6965446575245031 1.0 0.8461138941506153 15 Q3T906,Q15738,Q9Y619,Q14739,Q7Z4L5,Q96HY6,Q08AM6 7 |
| Capillary malformation 0.3567342052973986 0.3875270403126297 0.6983660704840544 1.0 0.847981768578329 14 Q9UHX1 1 |
| Diminished movement 0.3115177015126604 0.3874211886237534 0.6984444199776245 1.0 0.847981768578329 24 P04062,Q2TAA5,P06753,Q9H3H5,P13473,P12235,Q9Y3D3,O95831 8 |
| Pseudobulbar signs 0.3764704302220337 0.3843083855025524 0.7007498936017276 1.0 0.8491881935867568 11 P20700,P17900 2 |
| Sparse eyelashes 0.3274049533031459 0.3842520672625999 0.7007916307451363 1.0 0.8491881935867568 20 Q9UM00,Q15427,P02545,O75844,Q14574,Q15125,P62304,Q08AM6 8 |
| Supernumerary nipple 0.3622036160081419 0.3832098987178549 0.701564139108859 1.0 0.8497870254941545 13 Q9Y2B2,Q02127,Q7LGA3 3 |
| Abnormal tongue physiology 0.3269270777063109 0.3808938438782389 0.7032820206650061 1.0 0.850767816320994 20 Q9NX46,Q9NWS8,P10253,Q13510 4 |
| Epistaxis 0.3330319608464206 0.3793822999406044 0.7044039924870762 1.0 0.8516247188537062 18 P04062,Q8NI22,P38435,Q13586,O15460 5 |
| Distal sensory impairment 0.2722940616833687 0.3792047547684356 0.7045358209987429 1.0 0.8516247188537062 52 P33897,O95140,Q8TB36,P54802,P20700,O15269,O95831,P02545,P39210,P07196,P50570,Q6UWE0,Q9NR77 13 |
| Azoospermia 0.3612989805795345 0.3781239518892129 0.7053385159135739 1.0 0.8522620640646872 13 Q13423 1 |
| Abnormal cochlea morphology 0.3471771496849386 0.3775977083415314 0.7057294673536054 1.0 0.8523278658763801 3 Q9Y619 1 |
| Bronchitis 0.3825898735060867 0.3762157769767376 0.7067564872388199 1.0 0.8528319092181694 10 Q03519,Q3T906,Q03518 3 |
| Abnormal foot bone ossification 0.4221264526034024 0.3758188342681431 0.7070515848225905 1.0 0.8529048733734261 6 Q14739,Q15125 2 |
| Recurrent bacterial skin infections 0.3905336096119236 0.3734957076063024 0.7087795394212826 1.0 0.8543292235330128 4 P78536 1 |
| Abnormal nasal mucosa morphology 0.4316927598188692 0.3730845345637187 0.7090855286919366 1.0 0.8544781621798382 5 Q03519,Q03518 2 |
| Abnormal platelet aggregation 0.3903381373496953 0.3726728124415288 0.7093919736171239 1.0 0.854627573153963 4 Q86YV9 1 |
| Round face 0.2996646566576133 0.3716770365654116 0.7101333242727506 1.0 0.8552102994081051 26 P02545,Q9Y2B2,Q32P28,Q8WVQ1 4 |
| Autism 0.2698238834329684 0.3707182411827293 0.7108474024566465 1.0 0.8552102994081051 55 O14874,Q9H2C2,Q9Y2B2,Q9H3H5,Q9Y4P3,Q92581,O14521,Q9UBM7,Q93063,P21912,P21964,O76024 12 |
| Shuffling gait 0.3599350342157952 0.3704812612344458 0.7110239362088482 1.0 0.8552102994081051 13 P04062,O75844 2 |
| Optic disc coloboma 0.4307938513237077 0.369575922530442 0.7116984938777429 1.0 0.8554261599495375 5 Q10713 1 |
| Limitation of movement at ankles 0.430560235998873 0.3686655691608196 0.7123770155345523 1.0 0.8559304803183567 5 O75844 1 |
| Abnormal cardiac ventricle morphology 0.2487405123860599 0.3682412886302381 0.7126933261026633 1.0 0.8559629588371475 219 Q7KZN9,P48444,Q6NUK1,Q9Y4P3,P40855,Q9Y5Y5,O43772,P03886,O43683,O95202,O75787,P23786,Q3T906,Q9NX14,Q8N183,O14521,O75844,Q9UHX1,P12235,P21912,Q96CU9,Q12768,P10253,P78318,P03915,P47985,O75431,Q8WTW3,Q8WVQ1,P00403,O75880,P02545,P78536,P21964,Q14739,O75381,P40939,P53701,P42892,Q9UBM7,Q93063,P50542,Q9H9S5,Q9P0J0,Q9Y2B2 45 |
| Hypomimic face 0.3465339507925677 0.3663368358423971 0.7141137461073634 1.0 0.8563514559055019 15 P04062,Q15043,P12235 3 |
| Prominent metopic ridge 0.3524613813942121 0.3626864805524615 0.7168391000148742 1.0 0.8586195184424905 14 Q3T906 1 |
| Abnormal speech prosody 0.3795652056291408 0.3612265704342378 0.7179300808910385 1.0 0.8596074894922352 10 P04062,P03886 2 |
| Limb undergrowth 0.2675364652354907 0.3593851947986641 0.7193069487886334 1.0 0.860964855513519 63 O43909,Q15392,Q02127,P48444,Q8WTW3,O15228,Q7RTS9,Q14739,Q9UBM7,Q93063,Q9UHX1,Q15125,Q7Z4L5,Q96HY6 14 |
| Atelectasis 0.3517099146994988 0.3583507267515791 0.7200808607416134 1.0 0.8610821423828738 14 Q13510 1 |
| Hypoglycemic coma 0.3857113997029849 0.3572874705277717 0.7208766088908041 1.0 0.8615937831192974 9 Q13423 1 |
| Intestinal malrotation 0.294427678650047 0.3570329798360145 0.7210671163200493 1.0 0.8616016257252834 33 O95202,Q12768,Q15392,Q8NCH0,P21964,Q14739 6 |
| Mask like facies 0.3446734076549227 0.3551854790056044 0.7224506425163235 1.0 0.8621551107124737 15 P04062,Q9NQ11,O75787,P54098,Q86U42,Q05086,Q13049,Q9H9S5 8 |
| Neuronal loss in basal ganglia 0.4169630265983313 0.3547322803280586 0.7227901653996875 1.0 0.862220583417833 6 O95169 1 |
| Childhood onset 0.2784658475254796 0.3540393256853604 0.7233094117986045 1.0 0.8625206937028166 44 O75431,Q9H3H5,P50402,Q8WWV3,O00165,Q9NR77 6 |
| Spinal muscular atrophy 0.3624615859561146 0.3536026205467404 0.7236367101770806 1.0 0.8626913592439414 12 Q13510 1 |
| Anencephaly 0.3380760296432213 0.3522132295548441 0.7246783561110828 1.0 0.863713338428578 16 Q96J42,P21964 2 |
| Epispadias 0.4156736605146619 0.3495175350563602 0.7267008088330487 1.0 0.8646559973358344 6 Q9Y619,Q9NX14,P53701 3 |
| Volvulus 0.4156479217603849 0.3494136476210763 0.7267787889206652 1.0 0.8646559973358344 6 Q6KC79,Q9UQE7,Q14683,Q9UID3,Q8IYB7 5 |
| Convex nasal ridge 0.3019458058094882 0.3492835951325875 0.7268764130357495 1.0 0.8646559973358344 25 O95202,Q6NUK1,O75844 3 |
| Abnormal basophil morphology 0.2979647218453317 0.3447275759995523 0.730299184845491 1.0 0.8671030118672446 2 Q01130 1 |
| Chronic sinusitis 0.4134108674406498 0.3404163085448616 0.7335430388480557 1.0 0.8694118405780094 6 Q03519,Q03518 2 |
| Duplication of hand bones 0.2660216721428443 0.336977562867001 0.7361338141632323 1.0 0.8718206790241669 66 O43909,O95202,Q12768,Q96J42,O43924,Q8WVQ1,O75845,P21964,Q14739,Q10713,Q9UBM7,Q9UHX1,Q15125,Q7Z4L5 14 |
| Abnormality of the middle ear 0.2485533480976506 0.3366935932809277 0.736347893500708 1.0 0.8718537748122639 151 Q6NUK1,O95202,Q3T906,O43924,O14521,Q96HR9,O75844,P21912,Q9NWM8,O75845,P51798,P21964,Q14739,P16435,Q7LGA3,Q03518,Q96A33,Q8N5M9,Q9Y2B2,O00165 20 |
| Abnormal venous morphology 0.2952419122037568 0.335169602450627 0.7374971508869155 1.0 0.8725528301981086 26 P04062,Q6NUK1,P02545,Q9Y487,P21964 5 |
| Spinal cord compression 0.4012034424666551 0.329590221487075 0.7417096122448918 1.0 0.875775598450231 7 O43909,Q93063 2 |
| Tetraplegia 0.3401997392028049 0.3286426539063017 0.7424258040812739 1.0 0.8762072182129574 15 O95831,Q13423,O43681,P51572 4 |
| Cholangitis 0.2947082767978422 0.3286019904883803 0.7424565433576491 1.0 0.8762072182129574 2 Q9Y276 1 |
| Telangiectasia of the skin 0.3037593711523942 0.3271196198388461 0.7435774129528823 1.0 0.8771225037732209 24 O14521,Q8IZA0,Q3T906,Q14739 4 |
| Abnormal posterior segment imaging 0.3792470379937984 0.3268661693573303 0.7437691097482824 1.0 0.8771225037732209 4 Q96S66 1 |
| Autoamputation 0.4005020629037293 0.3266658578418959 0.7439206262231435 1.0 0.8771225037732209 7 O15269,P39210 2 |
| Progressive muscle weakness 0.3221825695061682 0.3264125695855074 0.7441122287223625 1.0 0.8771225037732209 19 P54098,O96011,P06753,Q13608,P56589,P40855,P50542,Q9Y5Y5,O75381 9 |
| Abnormal platelet volume 0.3901615081142905 0.3263383056022086 0.7441684094779633 1.0 0.8771225037732209 8 O75845 1 |
| Abnormal urine carboxylic acid level 0.2889076657614172 0.3258494204108827 0.7445382854408729 1.0 0.8773368693038086 27 Q9H6K4,O96000,Q9NVI7,Q9BUB7,Q5XKP0 5 |
| Autistic behavior 0.2471052376783039 0.3255852063543025 0.7447382064542896 1.0 0.8773368693038086 217 O43909,O14874,Q9H2C2,O43676,Q15907,O96000,O75503,Q9H3H5,Q9Y4P3,Q9NPL8,Q5XKP0,P03886,Q15067,Q5KU26,Q9NX14,Q8N183,Q15233,Q9GZY8,O14521,Q96DX4,Q8IUX1,Q9UHX1,P21912,P55795,Q9NZ01,Q96CU9,P51812,Q9Y6M9,O75746,P21964,O76024,Q86Y39,Q01105,Q7LGA3,Q2TAA5,Q92581,Q9UBM7,Q93063,Q96N66,Q9P0J0,Q9Y2B2,Q8NB90 42 |
| Increased circulating antibody level 0.3220240622979208 0.3253552807300787 0.7449121966740493 1.0 0.8773368693038086 19 Q14108,P78536 2 |
| Prenatal maternal abnormality 0.3454635379481189 0.3227142147366562 0.7469116858769964 1.0 0.8794706728627076 14 P16435,P02545,O43772,Q14739,P40939 5 |
| Corneal ulceration 0.4182370185219764 0.3215537852735352 0.7477907597027502 1.0 0.8799971430916605 5 P02545,O75844 2 |
| Dystonia 0.249338661654713 0.3202829245230927 0.7487538662030249 1.0 0.8805330427554529 196 O14949,Q7KZN9,Q9Y4W6,Q9H2C2,Q8WWI5,Q15907,O43819,P07602,O15121,P51572,Q96L58,P03886,Q15067,Q9NQZ5,P61916,Q99720,P35670,Q8N183,P49589,Q9NZJ7,O14521,Q9BPX6,Q9NZ01,Q96CU9,Q96RL7,P03915,Q6DKK2,Q8NI60,P35637,P04062,Q96N66,O43681,Q01105,Q15043,O95169,Q92581,O00584,P39210,P16278,Q9P0J0,Q5BJH7,P17900,Q8NB90 43 |
| Crumpled long bones 0.3343048579126547 0.3194075417945918 0.7494174925939359 1.0 0.8810922528388543 3 O75718 1 |
| Bone fracture 0.3884865427875393 0.319016711181676 0.7497138406717059 1.0 0.8812194804783614 8 Q9BTW9,P51798,Q93063,Q13501 4 |
| Abnormality of small intestinal villus morphology 0.3880404846113616 0.3170740104667929 0.751187444826918 1.0 0.8827300530780943 8 P78536 1 |
| Curly eyelashes 0.4155350353069084 0.3114736811874684 0.7554405478534436 1.0 0.8861239558699607 5 Q14683,Q6KC79,Q8N3U4,Q9UQE7 4 |
| Oligodactyly 0.4155350353069036 0.3114736811874503 0.7554405478534574 1.0 0.8861239558699607 5 Q14683,Q6KC79,Q15427,Q9UQE7 4 |
| Hemiplegia hemiparesis 0.2724331303117481 0.3111137334819435 0.7557141610766012 1.0 0.8861239558699607 45 P33897,P03915,Q9NZ08,P00403,O60313,Q9H9S5,P03886 7 |
| Abnormality of dental color 0.3752280519955436 0.3107180347717079 0.7560149856814895 1.0 0.8861239558699607 4 Q6P4Q7 1 |
| Retinal hamartoma 0.3756306655342782 0.3104183597678669 0.7562428341755421 1.0 0.8861239558699607 9 O14521 1 |
| Restrictive behavior 0.3964673913043511 0.3099783011505744 0.756577457360297 1.0 0.8861239558699607 7 Q13501,P55072,P49768,Q14683,Q9UQN3,Q01082 6 |
| Pheochromocytoma 0.368956899443106 0.3097854331912379 0.7567241296925369 1.0 0.8861239558699607 10 O14521 1 |
| Abnormal urine cytology 0.2700994378828357 0.308626889719887 0.7576053637283988 1.0 0.8867125246636232 46 P04062,Q8NI22,O14521,Q14108,P09601 5 |
| Abnormal circulating ige level 0.3955750850014988 0.3063192571555753 0.7593615783964687 1.0 0.8881022804517003 7 P78536 1 |
| Vertebral compression fracture 0.3217970857175046 0.305744548581298 0.7597991515750191 1.0 0.8883922181670967 18 P04062,Q14108,Q32P28,Q96HY6 4 |
| Renal cyst 0.2630711971147214 0.3051973734217005 0.7602158327461941 1.0 0.8886575893644055 74 O43683,P23786,Q96J42,Q9Y4P3,O43505,Q9NWS8,Q10713,Q9UBM7,P40855,Q9UHX1,Q9Y5Y5,P21964,O75381 13 |
| Hand muscle weakness 0.3421336705788011 0.3040257101872815 0.7611083038049493 1.0 0.8894788660235485 14 P07196,Q9NR77,Q8TD16 3 |
| Akinesia 0.3529082997474795 0.3033431839581531 0.7616283395061201 1.0 0.8896426788645053 12 Q9H3H5 1 |
| Fragile nails 0.3674496997988198 0.3026281228089757 0.7621732799641046 1.0 0.8900572533911408 10 Q9Y487 1 |
| Intestinal pseudo obstruction 0.3418332422465312 0.302350640272123 0.7623847782158375 1.0 0.8900823283058282 14 P03886 1 |
| Sparse and thin eyebrow 0.3472282677935112 0.3008643099880577 0.7635179665729657 1.0 0.8902957817843592 13 Q3T906,Q9UM00,Q96EK5,Q15125,P62304 5 |
| Abnormality of the kidney 0.2394110389520687 0.2997839996610921 0.7643419207539441 1.0 0.8904365020165527 386 O43909,Q8NCH0,Q96J42,Q9BT22,O43676,O96000,Q9Y4P3,O43819,O15460,Q9NPL8,Q86XL3,P40855,O95470,P09601,Q9Y5Y5,Q03252,O43772,P03886,O95202,P23786,O43683,Q8NI22,Q15392,Q13277,P35670,Q9NX14,Q8N183,Q4J6C6,P51571,O43924,P50416,O14521,Q9NWS8,Q14108,Q9BUB7,Q8IUX1,Q9UHX1,P21912,Q15125,Q7Z4L5,Q12768,Q9NZ08,P03915,O75431,Q9Y6M9,Q8WTW3,O75845,P00403,P02545,Q16625,P21964,O75381,O76024,P04062,P16435,Q02127,Q86Y39,O95721,Q7LGA3,O43505,O95169,P20700,Q10713,Q96I36,Q9UHJ6,Q9H9S5,Q9Y2B2 67 |
| Platyspondyly 0.2785808293921142 0.2989990683415283 0.7649407564129931 1.0 0.8906025082019903 41 O43909,Q6NUK1,Q32P28,Q8WVQ1,Q7RTS9,Q6NUQ1,Q96DX4,P16278,O95831,Q96L58,Q14739,P08236,Q96HY6,P04066 14 |
| Abnormal hand bone ossification 0.3665732806488937 0.298484398487515 0.7653334819389324 1.0 0.8906390135160147 10 O43909,Q15125,Q8WVQ1 3 |
| Abnormal anatomic location of the heart 0.3406995275031066 0.2960463207572714 0.7671947071525991 1.0 0.8919185922816515 14 Q96J42,P02545,O75844 3 |
| Abnormality of the proximal phalanx of the thumb 0.32871878393051 0.2951337660213864 0.7678916963744431 1.0 0.8922729688650118 3 Q15233,Q9ULC3 2 |
| Urticaria 0.340492689493771 0.2948990339796417 0.7680710099196686 1.0 0.8922729688650118 14 P51648 1 |
| Constipation 0.2569611224900355 0.292736193394308 0.7697238028099354 1.0 0.8939713097847104 109 Q8NCH0,Q9Y4P3,Q9Y5Y5,Q03252,P03886,P12235,P21912,P55795,P78318,P03915,P00403,P21964,P37268,O76024,P04062,P16435,Q13423,P33897,Q7LGA3,P42892,P20700,Q9UBM7,Q93063 23 |
| Holoprosencephaly 0.3339222042475236 0.2920829456857325 0.7702232057922287 1.0 0.8941079295987111 15 O43683,Q96J42,Q9H9S5 3 |
| Arnold chiari type i malformation 0.4099322659902495 0.2908750498988899 0.7711468839475877 1.0 0.8944400133332119 5 O75419,Q15043 2 |
| Hypertension associated with pheochromocytoma 0.3713028246405319 0.2907980241446563 0.7712057965798902 1.0 0.8944400133332119 9 O14521 1 |
| Elevated calcitonin 0.3713028246405319 0.2907980241446563 0.7712057965798902 1.0 0.8944400133332119 9 O14521 1 |
| Aplasia hypoplasia of the ribs 0.2857694369879304 0.2907100261495354 0.7712731028720843 1.0 0.8944400133332119 28 Q12768,Q3T906,Q9UHX1,Q9Y619,Q14739,Q7Z4L5,Q96HY6 7 |
| Thickened calvaria 0.3501382913381524 0.2890876915202779 0.7725142724135625 1.0 0.8956576366299819 12 P16278,Q3T906,P51812,Q7RTS9 4 |
| Abnormality of globe size 0.2603236178096437 0.2876961349420424 0.773579348869949 1.0 0.8962269775183876 80 Q9NX14,P53701,Q96J42,O75431,O43924,Q6NUK1,O43505,Q15125,Q96I36,Q9UHX1,Q9H9S5,P21964,Q9NP58 13 |
| Sinus tachycardia 0.3572371683494053 0.2870841370762984 0.7740478979625984 1.0 0.8965074588573496 11 O14521,P21912,P06753,P50542 4 |
| Congenital hip dislocation 0.2842151178670618 0.2866010978892052 0.7744177736902063 1.0 0.8965074588573496 27 Q9BTW9,Q02127,Q8TD16,P06753,P36543,P53007,Q9Y487,Q9UHX1,Q9Y3E5,Q15738 10 |
| Multiple joint contractures 0.2984008838642825 0.2863800694797282 0.7745870380007887 1.0 0.8965074588573496 24 Q96S52,Q15043,P02545,O75844,Q9H0B6,Q9H9S5,Q96L58,P41440 8 |
| Progressive spastic paraplegia 0.286528831696211 0.2858048797619856 0.7750275704525542 1.0 0.8967180880622502 33 Q12768,Q7KZN9,Q8N183,O75298,O00400,Q9P0J0 6 |
| Abnormality of the urinary system physiology 0.2369714661522267 0.2837617995769732 0.7765929311514841 1.0 0.8981632813613707 310 Q8NCH0,Q9BT22,O43676,P04066,O96000,Q9Y4P3,O43819,O15460,Q9NPL8,Q5XKP0,P40855,O95470,P09601,Q03252,Q9Y619,P03886,O43772,P08236,P23786,Q3T906,Q8NI22,Q13277,P35670,Q9UJS0,Q9NX14,Q8N183,Q4J6C6,Q9H6K4,P54802,O14521,Q9NVI7,Q14108,Q9BUB7,Q9NWS8,P12235,P21912,Q8IUX1,P50416,Q7Z4L5,Q9Y5U9,P10253,Q9NZ08,P03915,O75431,Q9Y6M9,Q8WTW3,P00403,O75880,P02545,P35610,O76024,P04062,P40939,Q13423,Q86Y39,O95721,O95169,P20700,Q10713,Q96I36,Q9UHJ6,Q9H9S5,Q16625,P15586,Q9HC21 65 |
| Abnormality of reproductive system physiology 0.247017633531003 0.2806885954422575 0.7789492567678884 1.0 0.900666087065117 164 Q96RD7,Q9BT22,Q9Y4P3,O95470,P03886,Q8NI22,Q9UJS0,P35670,Q4J6C6,Q96HR9,O75844,Q9Y5U9,P03915,P00403,O60313,P02545,O76024,P04062,P16435,Q13423,P33897,P20700,O75298 23 |
| Abnormality of the fontanelles or cranial sutures 0.2514259634644107 0.2783102539005399 0.7807742054722788 1.0 0.902260614562207 129 O43909,O75419,Q8NCH0,Q9BT22,Q6NUK1,P20674,O15228,P40855,Q9Y5Y5,Q9Y619,Q3T906,Q96DX4,O75844,Q9Y487,Q15125,P51812,Q12768,O75431,Q32P28,O75845,P51798,P02545,P21964,O75381,P16435,Q9UHJ6,P50542,O95831,O75718 29 |
| Short clavicles 0.3550469672032102 0.2764284365450723 0.7822190180695299 1.0 0.9031091645643772 11 O75431,O75844 2 |
| Abnormal corpus callosum morphology 0.2353275235093544 0.2754433799120921 0.782975620127492 1.0 0.903667570999944 324 O43909,Q8TD16,Q96J42,Q9H2C2,Q6NUK1,O75503,Q9H3H5,P07602,Q86XL3,P51572,Q9Y5Y5,P03886,Q5KU26,O95202,P23786,O43683,Q15392,Q9NX14,P51571,O43924,P49589,Q9NZJ7,Q9NVI7,Q9BUB7,Q9NWS8,Q96DX4,Q9UHX1,Q15125,Q9NZ01,P51812,Q9Y5U9,P03915,Q9Y320,Q6ZXV5,P00403,O60313,P37268,P04062,O95721,Q01105,Q7LGA3,P53701,Q96A33,O43505,Q9UBX3,Q92581,P20700,Q10713,Q9H9S5,Q96N66,Q5BJH7,Q9HC21 52 |
| Arachnoid hemangiomatosis 0.3780454748164971 0.2743591072145025 0.7838086653851557 1.0 0.903667570999944 8 O14521 1 |
| Hemangioblastoma 0.3780454748164971 0.2743591072145025 0.7838086653851557 1.0 0.903667570999944 8 O14521 1 |
| Abnormal intestine morphology 0.2436471548426713 0.2742911722547532 0.7838608679839625 1.0 0.903667570999944 223 Q8NCH0,Q9BT22,Q9Y4P3,P40855,P09601,Q9Y5Y5,P03886,O43683,O95202,Q15392,Q13277,Q9NX14,O14521,O75844,P21912,P51812,Q12768,Q9NZ08,P03915,Q96MW5,P14174,P00403,P02545,P78536,P21964,Q14739,O75381,Q07812,P08183,O76024,Q02127,P33897,P53701,Q96A33,P42892,Q9UBM7,Q10713,Q93063,Q9Y6B6,P50542,Q9UHJ6,Q9Y2B2,Q01844 43 |
| Abnormal muscle fiber type distribution 0.336742712639625 0.2742568637963605 0.7838872316678542 1.0 0.903667570999944 14 Q9H3H5 1 |
| Neonatal onset 0.2923686814507161 0.2740409379023565 0.7840531615166038 1.0 0.903667570999944 25 O75787,Q13277,Q9H490,Q8TB36,P40939 5 |
| Abnormal ovarian morphology 0.2842859117402085 0.2723023600504614 0.7853895417072172 1.0 0.9049851447371724 34 P16435,Q9Y4P3,O14521,P02545,P21912 5 |
| Eeg with abnormally slow frequencies 0.2964508968602798 0.2717578568446273 0.7858082113956744 1.0 0.9052448751051004 24 Q9H2C2,O75503,Q9H3H5 3 |
| Focal dystonia 0.2818685571392372 0.2672375456449479 0.7892862697477778 1.0 0.9081348286658294 27 Q99720,Q96RL7,P29992,Q15043,P35637,Q96L58,P22307,Q9NQZ5,Q08AM6 9 |
| Large hands 0.3177959173862351 0.2659042956963164 0.7903129166762821 1.0 0.908869556030372 17 Q9Y2B2,P21912 2 |
| Aspiration 0.3522821674002762 0.2631102390899793 0.7924656122631537 1.0 0.9108978964026042 11 P17900 1 |
| Neurodegeneration 0.2848663321944106 0.2621932316708065 0.7931724712623285 1.0 0.9114867162396336 31 P17900,P33897,Q15165,P35637,P08236,Q6DKK2 6 |
| Proptosis 0.2601521674957338 0.2602172778093128 0.7946961774566894 1.0 0.913008668155422 68 O43909,O95202,Q3T906,O75419,P16435,Q6NUK1,O75431,Q32P28,Q8WVQ1,Q15043,Q9UBM7,Q96DX4,P02545,O75844,Q9UHJ6,O75718,Q5KU26 17 |
| Abnormal pulmonary valve morphology 0.3088502940783351 0.257670798174019 0.796660984921137 1.0 0.9137022657616568 20 Q9Y2B2,Q9BUB7,P21964 3 |
| Anorectal anomaly 0.2562805495095835 0.256870038764168 0.7972791002943087 1.0 0.9137650375828918 88 P16435,Q12768,Q9NX14,P53701,Q6NUK1,P16615,Q9Y4P3,P21964,O14521,P78536,P21912,Q9H9S5,Q9Y2B2,P51812 14 |
| Adducted thumb 0.2824485248864553 0.2549402003082071 0.7987692865039699 1.0 0.9145527592238072 29 Q8NCH0,Q96AA3,Q8NBU5,P33897,Q9Y4P3,P42892,Q92581,P57740,Q86XL3,Q96L58 10 |
| Abnormality of earlobe 0.2837625177093835 0.2527628856012237 0.8004514495478221 1.0 0.916030928336672 31 P16435,Q15392,Q9NX14,Q7LGA3,P21964 5 |
| Diplopia 0.2936723143430435 0.2511216717436483 0.8017200410244454 1.0 0.9165500081113076 24 O14773,Q9NW15 2 |
| Blepharitis 0.3152885212441858 0.250657275481662 0.8020790954842547 1.0 0.9165500081113076 17 Q15800 1 |
| Abnormal vitamin b12 level 0.3621028163226249 0.2501757840277386 0.802451411463883 1.0 0.9167518076333728 9 P33897,O14678 2 |
| Lipid accumulation in hepatocytes 0.2584267368378268 0.2497958819775628 0.8027452045233587 1.0 0.916863822966938 77 Q7KZN9,Q8N511,Q6NUQ1,Q5XKP0,Q03252,O43772,Q15067,P23786,O75787,Q9UJS0,P35670,P50416,Q9NWS8,Q15904,O75431,O75880,P02545,Q96DA6,P40939,Q9Y6B6,P39210 21 |
| Long foot 0.3556345647455393 0.2479452112622984 0.8041767983120409 1.0 0.9178275154224173 10 Q9Y2B2 1 |
| Abnormal renal resorption 0.35840347542766 0.2459767395548293 0.8057002385513079 1.0 0.9186708659625916 4 Q01968,Q9Y276,O15078 3 |
| Aplasia hypoplasia of toe 0.2715603389787148 0.2448651777714675 0.8065608251024072 1.0 0.9190170578396366 42 Q7LGA3,P13073,Q9UHX1,Q13510 4 |
| Aplasia hypoplasia of metatarsal bones 0.3481546341838972 0.2435131134679267 0.8076079277267332 1.0 0.919279595011426 11 Q96DX4,Q7RTS9 2 |
| Macroorchidism 0.3962520369364585 0.2424024330168294 0.8084683493121163 1.0 0.919811937862024 5 Q9BZI7,P38159,Q93074,Q06787 4 |
| Wormian bones 0.3033960689928759 0.2419705756759076 0.8088029630324707 1.0 0.919969178932514 21 Q32P28,P02545,O75844,Q9Y487,O95831 5 |
| Abnormal shape of the frontal region 0.2514599088942307 0.239038807581103 0.81107549074776 1.0 0.922106213267599 120 O43909,P20674,Q96L58,Q9Y619,Q15067,O43683,O95202,Q15392,Q4J6C6,O43924,Q9NVI7,Q96DX4,Q9Y487,Q15125,P51812,Q12768,O75431,P51798,P13073,Q14739,P16435,P50542,P16278,Q9Y2B2,P15586,P04066 26 |
| Apraxia 0.2575420989108351 0.2376733314408795 0.8121344694493815 1.0 0.9228873289004078 77 P04062,O75787,P33897,Q9Y4W6,Q7LGA3,O14773,P05067,O43292,O43924,O96008,Q15233,Q9Y619,Q10713,P35637,Q9Y2B2,Q6DKK2 16 |
| Abnormal pleura morphology 0.2781004106378516 0.236538426088024 0.8130148933834376 1.0 0.9236385545981134 27 Q8NCH0,Q9NZ08,Q6NUK1,O15460,P14174,Q93063,Q96L58,Q14739,P08236 9 |
| Hypogonadism 0.2540123993461313 0.2361957907576331 0.8132807456173059 1.0 0.9237165403665036 104 Q9Y5U9,P33897,Q4J6C6,Q9BT22,P03915,Q9Y4P3,P00403,O60313,Q96HR9,O75844,O95470,P02545,P03886,O76024 14 |
| Arterial stenosis 0.3126171976602893 0.2345955917644137 0.8145226313456526 1.0 0.924260948283805 17 O14521,Q9Y4P3,P21912 3 |
| Pneumonia 0.2583658749417009 0.2340486097108033 0.8149472413901027 1.0 0.924264619532988 55 O43909,P04062,Q3T906,O95721,P78318,Q6NUK1,O14521,P20700,Q13510 9 |
| Retinal atrophy 0.2804887177139259 0.2327270270643145 0.8159733808205876 1.0 0.9248848289559902 33 P04062,Q7LGA3,P51648,Q10713,Q96HR9 5 |
| Intestinal polyp 0.2869204640333838 0.2324755911288245 0.816168643394912 1.0 0.9248848289559902 25 O14521,P33897,P42892 3 |
| Ectopic kidney 0.3099281117232663 0.2311983128379253 0.8171607406627142 1.0 0.9251173066532186 18 Q9UHX1 1 |
| Paraganglioma 0.3575607292605869 0.2306981347718958 0.8175493226812813 1.0 0.9251173066532186 9 O14521 1 |
| Hip contracture 0.3229913673337882 0.2305374897881901 0.8176741352571146 1.0 0.9251173066532186 15 Q3T906,Q96AY3,Q7LGA3,Q8TD16,P06753,Q969X5 6 |
| Decreased head circumference 0.2503578200014153 0.2299655739478077 0.818118520832603 1.0 0.9251731413761256 514 O43909,P48444,O43676,O96000,P07602,Q5T8D3,Q86XL3,P50897,Q03252,O43772,P03886,O43683,P51648,Q7RTS9,Q9UHX1,P55795,Q96CU9,Q06136,Q96MW5,P35637,Q86Y39,Q01105,Q7LGA3,Q2TAA5,P22695,Q9UBM7,Q15800,Q93063,P50542,Q5BJH7,Q9Y2B2,Q8NB90,Q7KZN9,O75419,P51970,Q9H2C2,Q9H3H5,O15121,Q5XKP0,Q9Y5Y5,O95202,P23786,Q99720,Q9GZY8,Q9NZJ7,O14521,Q9Y487,Q9NZ01,Q9HC07,Q9Y6M9,O75845,P21964,O75381,P04062,P46977,Q96A33,Q15043,Q96N66,Q9HC21,Q9UG56,Q96J42,Q9BT22,Q9NPL8,P40855,O95470,Q15392,Q9BUB7,P21912,Q9Y320,Q6ZXV5,Q8WTW3,P16435,O43505,P20700,Q6NUK1,Q9Y4P3,O15228,P51572,Q9Y619,Q5KU26,Q9NX14,Q8N183,P51571,P49589,Q9BPX6,Q96DX4,Q8IUX1,P51812,P00374,Q9Y5U9,O95721,P53701,Q92581,O00584,Q10713,Q9H9S5,Q16625 97 |
| Persistent ebv viremia 0.312703583061889 0.2291975607545054 0.8187153683630088 1.0 0.9256246163196556 3 O95394,Q9H0U3 2 |
| Cellular immunodeficiency 0.3324662498310681 0.2240649844879431 0.8227067381163415 1.0 0.9290812452975428 13 O14521 1 |
| Radioulnar synostosis 0.2897939081358157 0.2227296928522569 0.8237458902379948 1.0 0.9295171645084962 24 O95202,P16435,Q8WVQ1,Q9Y4P3 4 |
| Gastroparesis 0.3492855336100978 0.2196770388439191 0.8261226882112735 1.0 0.9317845251536588 10 Q9BUB7 1 |
| Nevus 0.2756178436944185 0.2194798337461969 0.8262762872547493 1.0 0.9317845251536588 37 O14521,P21912,Q6NUK1,Q9UHX1 4 |
| Natal tooth 0.3645562492962287 0.2193825886723184 0.8263520319146667 1.0 0.9317845251536588 8 O75844 1 |
| Back pain 0.2758899024570789 0.2187689414830999 0.8268300419322685 1.0 0.9318748595791014 27 P33897,P35670,Q9BTV4,Q9UGP8,P51798,P02545,P50402 7 |
| Abnormality of the phalanges of the hallux 0.3504266040550995 0.2170243510228418 0.8281893677943177 1.0 0.9321737947255536 4 Q8WVQ1 1 |
| Ventriculomegaly 0.2431964237590033 0.2167336355507663 0.828415933597566 1.0 0.9321737947255536 208 O43909,P05023,Q8NCH0,Q8TD16,Q96J42,O43819,P07602,Q86XL3,Q9NPL8,Q03252,Q5KU26,O43683,O95202,O75787,P23786,Q15392,Q9NX14,Q9NZJ7,Q9Y487,Q9UHX1,Q15125,P51812,Q96CU9,Q12768,Q96RL7,Q9Y320,Q6ZXV5,Q96MW5,P04062,Q01105,O43505,O95169,P20700,Q92581,Q9UBM7,O00584,Q10713,Q9UHJ6,Q9H9S5,P16278,Q16625,Q9HC21 42 |
| Abnormal sacrum morphology 0.2753074760473329 0.2166406982573329 0.8284883662345175 1.0 0.9321737947255536 37 O95202,Q9NX14,P53701,Q9Y4P3,Q15125,Q14739,P04066 7 |
| Interictal eeg abnormality 0.2534477709637382 0.2161300576923583 0.8288863707172829 1.0 0.9323976369932164 93 Q9H2C2,O75503,Q9H3H5,Q9UBX3,Q9GZY8,Q14108,P13073,Q96N66,Q9Y2B2,Q9NZ01 10 |
| Cerebral inclusion bodies 0.309122530305369 0.213878708071158 0.8306416445444662 1.0 0.9328357581849546 17 P61916,P04062,P05067,O96008,Q9Y287 5 |
| Dystrophic fingernails 0.3479513477019708 0.213842438774798 0.830669928990061 1.0 0.9328357581849546 10 O75844 1 |
| Abnormal ciliary body morphology 0.3491718707575467 0.2125789828713396 0.8316553659984975 1.0 0.9335800977439244 4 Q99496,P29992,O75533 3 |
| Multiple cafe au lait spots 0.3018599286959301 0.2123193236211955 0.8318579210114203 1.0 0.9335800977439244 20 O14521,Q9NP58,P21912 3 |
| Abnormality of the cerebral subcortex 0.2417734802635681 0.2118306393226287 0.8322391641817026 1.0 0.9335800977439244 426 O43909,Q8TD16,O43819,P07602,Q86XL3,P03886,O43683,O75787,O43924,Q9UHX1,Q96CU9,Q96RL7,P78318,P00403,Q8NI60,P37268,Q01105,Q7LGA3,Q9H490,Q2TAA5,Q9UBX3,Q9UBM7,P16278,O95831,Q5BJH7,P17900,Q8WWI5,Q8NB90,Q7KZN9,Q9H2C2,O75503,Q9H3H5,O15121,Q9Y5Y5,O95202,P23786,Q9GZY8,Q9NZJ7,Q9NZ01,Q9HC07,O60313,P04062,O43681,P33897,Q96A33,Q15043,Q96N66,Q9P0J0,Q9HC21,Q96J42,Q15392,Q9NVI7,Q9BUB7,P12235,P21912,Q15125,P10253,Q9Y320,Q6ZXV5,O43505,O95169,P20700,Q6NUK1,P51572,Q9Y619,Q5KU26,Q9NX14,Q8N183,P51571,P49589,Q9NWS8,Q9BPX6,Q96DX4,P51812,Q9Y5U9,P03915,O95721,P53701,Q92581,O00584,Q10713,Q9H9S5,Q53FT3 83 |
| Sparse or absent eyelashes 0.2761696093573822 0.2117150961651762 0.8323293100295961 1.0 0.9335800977439244 28 Q9UM00,Q07954,Q15427,P02545,O75844,Q14574,Q15125,P62304,Q08AM6 9 |
| Increased serum iron 0.308089033659066 0.211281209541791 0.8326678445843267 1.0 0.9337362183464176 3 Q6PGP7,Q9Y276 2 |
| Abnormality of the chin 0.2529649452290204 0.2106523893634213 0.8331585286486929 1.0 0.9337775158485216 96 Q3T906,Q7LGA3,Q07954,Q6NUK1,Q9Y4P3,Q7RTS9,P20700,Q9NVI7,P02545,O75844,Q9UHX1,Q9Y2B2,P51812 13 |
| Abnormal number of granulocyte precursors 0.3078175895765468 0.2102431993112441 0.8334778647722705 1.0 0.9337775158485216 3 Q01130,O75533 2 |
| Abnormal oral physiology 0.2558325934917146 0.2095253870044942 0.8340381192148221 1.0 0.9339312814731596 64 O43909,O75787,P35670,Q96RL7,O15460,P55795,Q92581,Q15165,Q92804,P15586,Q03252,P35637,Q14739,P51812,Q9NR77 15 |
| Iris coloboma 0.2721267113101624 0.2085359279154192 0.8348105327852764 1.0 0.934421748090468 39 O95202,Q12768,Q9NX14,P53701,P78318,O43505,Q10713,Q9UHX1,Q9H9S5 9 |
| Increased intramyocellular lipid droplets 0.3703873436843141 0.2081977025707616 0.8350746023711995 1.0 0.934421748090468 7 Q9Y4W6 1 |
| Overlapping toe 0.2791128701172795 0.2069941894785599 0.8360143963566264 1.0 0.9352499241782752 26 Q96A33,Q9UBM7,Q96DX4,Q93063,Q9UHX1,Q15125 6 |
| Abnormality of the helix 0.2605107417682662 0.2058742354825672 0.8368891514410994 1.0 0.936004963073092 46 P23786,Q9Y2B2,O75844,Q7LGA3 4 |
| Hypochromic anemia 0.333157460742033 0.2052011045729544 0.8374150064833144 1.0 0.936369513098077 12 O75027,Q96DA6,Q9UHJ6 3 |
| Pseudobulbar paralysis 0.3607644258163616 0.204526901916304 0.8379417715959119 1.0 0.9365113954080772 8 P54136,Q15233,P20700,P54886 4 |
| Retinal telangiectasia 0.3602016980811315 0.2023457088797543 0.8396464684278202 1.0 0.9381927619551312 8 P03886 1 |
| Hip subluxation 0.3685352314320965 0.2014077978336515 0.8403797183570583 1.0 0.9387881232493348 7 Q03252,Q9UBM7 2 |
| Malnutrition 0.3596805423776507 0.2003311330495464 0.8412216153823149 1.0 0.939504541356882 8 P20700,Q9Y6B6,Q12959 3 |
| Abnormality iris morphology 0.2520349498624041 0.1993457066397278 0.8419923278443022 1.0 0.939917079033058 99 Q96J42,Q13586,Q9Y4P3,P40855,Q9Y5Y5,O95202,Q9NX14,O14521,Q9UHX1,P21912,Q12768,P78318,O75381,Q9NR77,P53701,Q7LGA3,O43505,Q86YV9,Q9UBM7,Q10713,Q9H9S5 21 |
| Aplasia hypoplasia of the patella 0.3746938456171874 0.1960002280822873 0.8446099874755908 1.0 0.9421311944029912 6 Q9Y619,O75419 2 |
| Abnormality of the metopic suture 0.3113552548361434 0.1948918400963361 0.8454776223684641 1.0 0.942460062630625 16 Q3T906 1 |
| Impaired smooth pursuit 0.3052841682870884 0.1915275580810549 0.8481122919321769 1.0 0.9447224673984104 17 Q9BTW9,P46977,Q10713,Q9UBB4,P41440 5 |
| Abnormal cervical spine morphology 0.3807036439265745 0.1907290250204339 0.8487378974317354 1.0 0.9449698862776916 5 Q8NCH0 1 |
| Aplasia hypoplasia of the uterus 0.3049490722757078 0.189596965595531 0.849624965186992 1.0 0.9450880357293072 17 O95202,Q9NX14 2 |
| Abnormal circulating androgen level 0.3294995918288187 0.1879894687154322 0.8508849067488242 1.0 0.9462357320065272 12 Q13423 1 |
| Retinal arteriolar tortuosity 0.3357504057070778 0.1868176480093867 0.8518036094087154 1.0 0.9470325436673208 11 P21964 1 |
| Abnormal globus pallidus morphology 0.3350978020005275 0.1839313748884107 0.8540672910888654 1.0 0.9488736222628664 11 O43819,O95169 2 |
| Abnormal ureter physiology 0.2558334279091901 0.1831173518011434 0.8547059412035367 1.0 0.9493579863878032 50 P16435,Q9Y2B2,Q9Y4P3,O14521,Q86XL3,Q9UBM7,P21912,Q9UHX1,P21964 9 |
| Neoplasm of the peripheral nervous system 0.3014429722298735 0.1802980858706448 0.8569185583018712 1.0 0.9509136524723916 18 O14521,P02545,P21912 3 |
| Abnormal caudate nucleus morphology 0.3271181529038964 0.176960547821301 0.8595393787210024 1.0 0.9524680506101668 12 O43819,O95169 2 |
| Increased sulfur amino acid level in urine 0.3688067331349494 0.1761569830771659 0.8601706147714432 1.0 0.9529420907259792 6 Q4J6C6 1 |
| Abnormal head movements 0.3222422685359764 0.173855295511901 0.8619791865060955 1.0 0.954719912412994 13 P20700,Q96RL7,Q99720 3 |
| Small epiphyses 0.373647442945667 0.1685761273252701 0.8661300594296193 1.0 0.9579582522711538 5 Q96DX4 1 |
| Basal ganglia gliosis 0.3420900892731735 0.1674843747465176 0.8669889410236657 1.0 0.9584149876759862 9 O95169 1 |
| Myopia 0.2476321170624023 0.1674672438946246 0.8670024191165244 1.0 0.9584149876759862 117 O75419,Q8NCH0,P48444,O43819,O15460,Q9Y4P3,Q96L58,Q15067,Q9NX14,P51648,Q15233,O14521,Q9NVI7,Q9Y487,Q9UHX1,P12235,P21912,Q53H12,Q9NWM8,P30533,Q8WVQ1,P40939,O43292,Q9H9S5 24 |
| Megaloblastic anemia 0.3420356497277271 0.1672709547201285 0.8671568569109371 1.0 0.9584149876759862 9 P00374,O76024 2 |
| Chronic constipation 0.2689622730343224 0.1643258665086808 0.8694746199402388 1.0 0.9602968921952556 27 P04062,Q7LGA3,P55795,P20700,Q03252 5 |
| Aplasia hypoplasia involving the skeleton 0.2296597600065555 0.1628999638897266 0.8705971992603156 1.0 0.9610834978400468 356 O43909,Q8NCH0,Q8TD16,Q96J42,Q9BT22,Q6NUK1,P04066,P48444,Q9H3H5,Q9Y4P3,O15228,Q6NUQ1,Q86XL3,P40855,Q9Y5Y5,Q03252,Q9Y619,P08236,O95202,O43683,Q3T906,Q15392,Q9NX14,O75787,P38435,P51571,O43924,Q7RTS9,Q9NVI7,Q9BUB7,Q96DX4,O75844,Q9UHX1,Q13510,P55795,Q15125,P51812,Q7Z4L5,Q12768,O75431,Q32P28,Q8WTW3,Q8WVQ1,O75845,Q96MW5,P51798,P02545,P13073,P21964,Q14739,P37268,O75381,O14678,P04062,P16435,Q02127,P53701,Q7LGA3,Q96A33,P16278,Q9UBM7,Q93063,Q9H9S5,Q16625,P50542,O95831,O75718,Q9Y2B2,Q96HY6,Q9HC21 70 |
| Hashimoto thyroiditis 0.2947882736156348 0.1625802396878235 0.8708489464146412 1.0 0.9611348880787416 3 Q15437,P54098 2 |
| Iron deficiency anemia 0.3713701775465688 0.161608007463812 0.8716145511659197 1.0 0.9616915412034236 5 Q9UER7,P28288 2 |
| Coronal craniosynostosis 0.3571162219319316 0.1609593122341085 0.8721254468493647 1.0 0.9616915412034236 7 P16435 1 |
| Renal tubular atrophy 0.3336953570458964 0.1603119773437187 0.8726353243442093 1.0 0.9617467904066532 4 P57740,Q8WUM0,Q96AX1 3 |
| Abnormal cerebral vascular morphology 0.2515454251024844 0.1590803404875289 0.8736055769881284 1.0 0.9623632461459062 78 P04062,P23786,Q8NI22,P10253,P38435,P03915,Q13586,Q9H3H5,Q9Y4P3,P00403,O14521,P02545,O75844,P21912,P03886,O76024 16 |
| Abnormal facial expression 0.2664119228697176 0.1556852061773575 0.876281158733716 1.0 0.9646300699197946 39 P04062,Q15043,P12235,Q9H9S5,P50570,Q9NR77 6 |
| Hypoplasia of the uterus 0.3385863455342368 0.153883965461889 0.8777012272129017 1.0 0.9659662942352516 9 Q9NX14 1 |
| Nonimmune hydrops fetalis 0.2698069731950186 0.1525579809224167 0.8787468633822397 1.0 0.9668899008885156 29 P04062,Q9BT22,Q14739,O96000 4 |
| Cellulitis 0.3675886596648601 0.1502370451563936 0.8805775997567418 1.0 0.9684492785303072 5 P02545 1 |
| Sporadic 0.2693319398983915 0.1488401922093991 0.8816797350567191 1.0 0.9694337744144772 29 O95202,P04062,P21912,Q03252,P51812 5 |
| Truncal ataxia 0.2912425931023518 0.1463740592916602 0.883626104417941 1.0 0.9712041013823496 20 Q9NW15,O75503 2 |
| Shield chest 0.359536784747453 0.1461869427361165 0.8837738130111212 1.0 0.9712041013823496 6 Q7RTS9 1 |
| Hamartoma of the eye 0.32629649840695 0.1460120884856135 0.8839118454724502 1.0 0.9712041013823496 11 O14521 1 |
| Restrictive ventilatory defect 0.3067471349738122 0.144796343651695 0.8848716691458272 1.0 0.9717374239154496 15 P16278,Q3T906,Q9H9S5 3 |
| Abnormality of the metaphysis 0.2508733697957494 0.144608976648176 0.8850196093986566 1.0 0.9717374239154496 66 O43909,Q3T906,Q9UG56,Q9HC07,P48444,Q8WVQ1,Q7RTS9,P51798,Q96DX4,Q93063,P50542,P16278,O95831,Q14739,Q7Z4L5,Q96HY6 16 |
| Hypodontia 0.2523850428881388 0.1439824541582403 0.88551432481266 1.0 0.971824999396087 49 O95202,Q9H2C2,O75431,Q9Y4P3,O75844,Q9Y2B2,P51812 7 |
| Tented upper lip vermilion 0.2661789481128627 0.1430236526204377 0.8862715011382485 1.0 0.9724281357066188 27 Q9Y5U9,Q4J6C6,Q15907,Q96DX4,Q9Y2B2 5 |
| Acanthosis nigricans 0.3110697771721287 0.1420382111691942 0.8870498235030979 1.0 0.9730541857818524 14 P28070,O75431,P31751,Q13608,P02545 5 |
| Premature ventricular contraction 0.3513866665171567 0.1416192264563462 0.8873807794851691 1.0 0.9731893165789118 7 Q9BTV4 1 |
| Headache 0.2501940104124565 0.1409218903068665 0.8879316487527731 1.0 0.9734274011289736 78 P04062,P23786,Q9NZ08,Q13586,P00403,O14521,O60313,P12235,P21912,P03886,Q9NQZ5 11 |
| Broad based gait 0.2700807465991178 0.1397916609232087 0.8888246022175805 1.0 0.9734959988051228 31 P04062,O14773,P49589,Q93063,Q9Y2B2 5 |
| Abnormality of macular pigmentation 0.3271789302199375 0.1397887028530119 0.8888269394677453 1.0 0.9734959988051228 4 Q9Y4U1,Q9UM00,P35221 3 |
| Undetectable light and dark adapted electroretinogram 0.3271789302199366 0.139788702853009 0.8888269394677475 1.0 0.9734959988051228 4 P20839,Q15555,P37198 3 |
| Ventricular septal hypertrophy 0.3269681281793734 0.1391400385420728 0.8893394897496547 1.0 0.9737415077109356 4 P06280 1 |
| Shortening of all distal phalanges of the fingers 0.318451059383411 0.1380521232997352 0.8901992234446248 1.0 0.9741103162885316 12 P16435,Q9Y2B2 2 |
| Neoplasm of the oral cavity 0.3145596349575867 0.1379243229780132 0.8903002271629386 1.0 0.9741103162885316 13 O43924 1 |
| Abnormal mitochondrial morphology 0.3052623044222523 0.1373392289232195 0.8907626640060622 1.0 0.9742058321061998 15 Q00325,Q13501,Q9UHD2,Q9GZY8,P46976,P35637 6 |
| Food allergy 0.3263643768666964 0.137287567887082 0.8908034967785767 1.0 0.9742058321061998 4 O95394,Q9Y5S9,Q01082 3 |
| Abnormal distal phalanx morphology of finger 0.2498911490725527 0.1369497499176754 0.8910705145131295 1.0 0.974270375812208 55 P16435,Q7LGA3,P38435,Q6NUK1,O75431,Q8WVQ1,P51798,O75844,Q9Y2B2,P51812 10 |
| Broad nasal tip 0.2484976958950453 0.1365669468464018 0.8913731042551061 1.0 0.9742813842507336 59 Q7LGA3,O43924,Q9UHX1,O43292 4 |
| Abnormal heart valve physiology 0.247613893744462 0.1364107360536285 0.891496586869907 1.0 0.9742813842507336 102 Q6NUK1,O43819,Q9Y4P3,Q96L58,O43683,Q3T906,Q9NX14,Q15233,O14521,Q96DX4,O75844,Q9UHX1,P06280,Q15125,P51812,Q12768,Q9NZ08,O75431,Q6ZXV5,P02545,P40939,P04062,P53701,O95169,P16278 25 |
| Lissencephaly 0.2487732917434566 0.1358159011140998 0.8919668202710611 1.0 0.9745678997316656 60 P23786,Q15392,O95721,Q9Y320,Q6ZXV5,O43505,P20700,Q9NWS8,Q9Y487,Q9H9S5,Q16625,Q9HC21 12 |
| Agenesis of corpus callosum 0.2476993621676115 0.1340749271199858 0.8933433258716592 1.0 0.9758442486900308 98 O95202,P23786,Q15392,Q9NX14,P53701,Q7LGA3,P03915,O43505,P00403,Q10713,Q9UHX1,Q9H9S5,P03886,Q9HC21 14 |
| Soft skin 0.3322518181014376 0.1300095156525091 0.8965588981887296 1.0 0.978647729323614 9 Q9NWM8,Q96L58 2 |
| Inflammatory abnormality of the eye 0.259714905361378 0.129773628018378 0.8967455282358989 1.0 0.978647729323614 42 Q9NZ08,Q15800,P78536,P51648 4 |
| Thoracolumbar scoliosis 0.3271460364088162 0.1280196624559745 0.8981334126850569 1.0 0.9799340566076884 10 Q3T906,Q96DX4 2 |
| Persistent head lag 0.3466085151109109 0.126000198122146 0.8997317677467287 1.0 0.9812208614960832 7 Q5XKP0 1 |
| Impaired distal proprioception 0.322020092316058 0.1241936148442804 0.9011619777158456 1.0 0.9825518397628076 4 Q96RR1,Q6PI48,P54098 3 |
| Abnormal qt interval 0.3260097865882007 0.1236296287864855 0.9016085320671108 1.0 0.9827691410585754 10 Q9H3H5 1 |
| Recurrent bacterial infections 0.2820980954139488 0.1234119344730768 0.901780906974756 1.0 0.9827691410585754 22 Q8N5M9,O00165,P78536 3 |
| Abnormal calcium phosphate regulating hormone level 0.3194748493298177 0.1179691279093836 0.906092119397384 1.0 0.9872378430466028 11 O14521 1 |
| Hypoplasia of the corpus callosum 0.2387912593889134 0.1155528302992541 0.908006948351736 1.0 0.9884392529399464 202 O43909,Q6NUK1,Q9H3H5,P07602,P03886,Q5KU26,P51571,O43924,P49589,Q9NZJ7,Q9NWS8,Q96DX4,Q9UHX1,Q15125,Q9NZ01,Q9Y5U9,P03915,Q9Y320,Q6ZXV5,P00403,P37268,P04062,Q01105,Q7LGA3,Q9UBX3,P20700,Q9H9S5,Q96N66,Q5BJH7 29 |
| Multifactorial inheritance 0.3054455035004339 0.1154827322154689 0.9080625065965452 1.0 0.9884392529399464 14 P10321,P42892,P35611 3 |
| Absent thumbnail 0.3190333966874943 0.115433961349909 0.908101161608796 1.0 0.9884392529399464 4 P09471,P21281,O14936 3 |
| Abnormality of urine catecholamine concentration 0.3237926467500835 0.1151572486709963 0.9083204837938968 1.0 0.9884392529399464 10 O14521 1 |
| Abnormal peripheral action potential amplitude 0.3180357156549611 0.1122099134590959 0.9106569690102956 1.0 0.990138635757712 11 O15269,Q96RL7 2 |
| Arthrogryposis multiplex congenita 0.2588328275419952 0.1089420109774799 0.913248484983412 1.0 0.9924955692951976 41 Q9BTW9,P04062,Q15392,Q8NCH0,Q96AA3,Q8TD16,Q96S52,P06753,Q92581,Q08209,P53007,Q969X5,P02545,O75844,Q99567,Q9UHJ6 16 |
| Sagittal craniosynostosis 0.3407608695652145 0.1075341565017202 0.9143652294445817 1.0 0.9934787136901926 7 P21281,O75419,P18583,Q9ULC3,Q92785,P61978 6 |
| Sleep apnea 0.2612589233668699 0.1062388628786885 0.9153928372897192 1.0 0.994329779487224 27 Q3T906,Q15233,P48444,Q96A33,Q9UID3,P51812 6 |
| Patellar dislocation 0.2762948200094637 0.106011677774166 0.9155730868762588 1.0 0.994329779487224 23 Q6ZXV5,Q15125,Q9Y4P3,P21964 4 |
| Fatigable weakness of bulbar muscles 0.2944830081813308 0.1056507352603427 0.9158594690595628 1.0 0.9944102348342588 16 Q13501,P06753,Q9UHD2,Q15165,Q92804,P43243,P35637 7 |
| Exercise induced muscle cramps 0.3456492716327938 0.1043631154820362 0.9168811923813114 1.0 0.9952888771990877 6 P23786 1 |
| Rapidly progressive 0.3065203894939402 0.1021144657464792 0.9186658190309998 1.0 0.9969950640271554 13 Q14108 1 |
| Localized skin lesion 0.2356979866164197 0.1014778346335705 0.9191711521178448 1.0 0.997099941460912 251 O43909,Q8NCH0,Q6NUK1,Q9H3H5,O15460,Q9Y4P3,P07602,Q9Y619,Q9NP58,O43683,O95202,Q8IZA0,Q15392,Q9NX14,P38435,Q9NZJ7,O14521,Q96HR9,O75844,Q9UHX1,Q13510,P21912,Q15125,Q03519,Q12768,Q9NWM8,Q06136,Q9NZ08,O75431,Q6ZXV5,O15269,P02545,P35637,P21964,Q14739,Q92542,P04062,P53701,Q7LGA3,Q03518,Q07954,P16615,Q93063,Q9Y2B2 44 |
| Abnormal fallopian tube morphology 0.3319363026153115 0.1012243266696845 0.9193723860076006 1.0 0.997099941460912 8 Q9NX14 1 |
| Ulnar deviation of the wrist 0.3501655429738579 0.1011881825402575 0.9194010775340902 1.0 0.997099941460912 5 P16435 1 |
| Abnormal renal morphology 0.2321795018225364 0.1008560637603223 0.9196647212376676 1.0 0.9971549894160266 295 O43909,Q8NCH0,Q96J42,O43819,Q9Y4P3,Q86XL3,P40855,O95470,Q9Y5Y5,Q03252,P03886,P23786,Q15392,Q13277,P35670,Q4J6C6,P51571,O43924,O14521,Q9NWS8,Q14108,Q9UHX1,P21912,Q15125,Q12768,Q9NZ08,P03915,O75431,Q8WTW3,O75845,P00403,P02545,P21964,O75381,O76024,P16435,Q7LGA3,O43505,O95169,P20700,Q10713,Q96I36,Q9H9S5,Q9UHJ6,Q9Y2B2 45 |
| Benign neoplasm of the central nervous system 0.260197836860748 0.0984584151995796 0.9215682913284652 1.0 0.998987705758512 27 O14521,O43924,P21912 3 |
| Hepatic necrosis 0.3142078752511094 0.0971650281829631 0.9225953400635672 1.0 0.9998696374034588 11 O14521 1 |
| Abnormal gastrointestinal motility 0.2640151356103854 0.0955757745435592 0.9238575062151516 1.0 1.0 33 P36551,P03915,P00403,Q9UBM7,P35637,P06280,P03886,Q01844,O76024 9 |
| Decreased circulating igg level 0.3048448557430662 0.0948927035893403 0.9244000520598704 1.0 1.0 13 O43909,P17812,Q05655,P18074,Q9Y289,Q13724,P18583,Q96AX1,P50851,Q14790,Q13315,Q15904 12 |
| Narrow iliac wing 0.3472063216266248 0.0934208721893093 0.9255692094187666 1.0 1.0 5 P51812 1 |
| Pleural effusion 0.3075984357179587 0.0922281544410804 0.9265167693601648 1.0 1.0 12 Q9NZ08,Q14739,P14174 3 |
| Microcytic anemia 0.3170497977723759 0.0901692591234811 0.9281527124567076 1.0 1.0 10 O75027,Q96DA6,Q9UHJ6,Q9UBX3 4 |
| Abnormal external genitalia 0.2276395625026436 0.0900909914273428 0.9282149079088224 1.0 1.0 335 O75419,Q8NCH0,Q96J42,Q6NUK1,P48444,Q9H3H5,Q9Y4P3,Q86XL3,P40855,O95470,Q9Y5Y5,Q03252,Q9Y619,Q5KU26,O95202,O43683,O75787,Q15392,Q9NX14,P51571,O43924,P49589,O14521,Q9NVI7,Q9BUB7,Q96HR9,O75844,Q9UHX1,Q9Y487,P21912,P50570,Q15125,Q12768,Q9Y5U9,Q06136,P78318,Q9NZ08,Q8WTW3,O75845,P02545,P21964,O14678,P37268,O75381,O76024,P16435,Q13423,Q02127,P46977,Q7LGA3,P53701,P42892,Q9UBX3,O43505,Q10713,Q9UBM7,Q93063,Q9H9S5,P50542,Q01844 60 |
| Albuminuria 0.3403451646590959 0.0894054106166698 0.9287597236434686 1.0 1.0 6 Q5JRA6,Q9Y5U9 2 |
| Aplasia hypoplasia involving bones of the feet 0.2453476441446564 0.0881606743925066 0.9297489728590262 1.0 1.0 82 O95202,Q7LGA3,Q96A33,Q8WTW3,Q8WVQ1,Q7RTS9,Q96DX4,P13073,Q9UHX1,Q13510,Q9Y2B2 11 |
| Vertebral hypoplasia 0.3116821438790745 0.0874594103799687 0.9303063475809904 1.0 1.0 11 Q6NUQ1,Q14739,P16278,Q96HY6 4 |
| Bilateral talipes equinovarus 0.3329150599414721 0.0839129420540003 0.93312564958301 1.0 1.0 7 Q15392 1 |
| Pulmonary fibrosis 0.2780906736556093 0.0829549074594745 0.933887394608896 1.0 1.0 21 P04062,P09601 2 |
| Abnormality of humoral immunity 0.2445406145041836 0.082751565323978 0.9340490822403796 1.0 1.0 61 O43909,P04062,O75787,Q9UJS0,Q9Y2Q5,Q14108,P02545,P78536,P09601,Q03252 10 |
| Renal agenesis 0.2444297043537852 0.0813616694284719 0.935154331376596 1.0 1.0 56 P16435,Q15392,Q7LGA3,O43924,O43819,O95169,Q9UHX1 7 |
| Paranoia 0.3373633907905059 0.0812503955705087 0.9352428220944085 1.0 1.0 6 Q96RL7 1 |
| Scleroderma 0.3372347422157405 0.080902693444157 0.9355193379307988 1.0 1.0 6 Q14739 1 |
| Neoplasm of the thyroid gland 0.2623453186298919 0.0804786842615393 0.935856548732252 1.0 1.0 32 O14521,P33897,P42892,P21912 4 |
| Large basal ganglia 0.2832015429558631 0.078864984677961 0.9371400146410463 1.0 1.0 18 Q9NZ01 1 |
| Cyanosis 0.2829850290064253 0.077733571342076 0.9380399888226276 1.0 1.0 18 P51812,P02545,O75844,P04066 4 |
| Hip dysplasia 0.2436172090542101 0.077723796188085 0.9380477647414882 1.0 1.0 57 O95202,Q7LGA3,Q96A33,Q9Y2B2,Q9NVI7,P02545,Q9UHJ6,Q9UHX1,Q15125 9 |
| Lymphocytosis 0.3040999185446771 0.0746751331963225 0.9404731932523364 1.0 1.0 4 Q03252,P01111,Q05655 3 |
| Emotional lability 0.2437616979116039 0.0737923058099105 0.9411756494088626 1.0 1.0 61 Q7KZN9,O43681,Q96RL7,Q8N183,Q9NZJ7,P07602,Q15165,Q92804,Q9P0J0,P35637,Q96CU9 11 |
| Abnormally large globe 0.3069240845806955 0.0696648282997407 0.944460436690938 1.0 1.0 11 O75431,Q9H9S5 2 |
| Hand tremor 0.2985827527526701 0.0686702649874367 0.945252087415576 1.0 1.0 13 P07196 1 |
| Intellectual disability moderate 0.2430404730178892 0.0676697270444607 0.9460485483718064 1.0 1.0 87 Q01105,Q4J6C6,Q8WTW3,Q9H3H5,Q15125,Q9BUB7,Q96DX4,Q93063,Q8NI60,Q9UHX1,Q10713,Q96N66,P51812,Q9Y2B2,Q9NZ01,Q8NB90 16 |
| Petechiae 0.306195102187195 0.066995842077108 0.9465850133069222 1.0 1.0 11 P04062,P51798 2 |
| Developmental stagnation 0.3210111443327044 0.0669388471839304 0.9466303867965252 1.0 1.0 8 P54136,O43175,Q14683,P51608,P16278,P37198,Q9H270 7 |
| 2 3 toe syndactyly 0.2604549307579552 0.0653803621061436 0.9478711593906866 1.0 1.0 31 P48444,O43924,Q9UBM7,Q9UHX1,Q15125,P51812,P37268 7 |
| Fatty replacement of skeletal muscle 0.3126768527289254 0.062409051621791 0.9502370868613012 1.0 1.0 9 P22626,Q9H9S5 2 |
| Long nose 0.2934905215126416 0.0623242053153012 0.9503046528891246 1.0 1.0 14 O43909,Q92581,Q8NB90,Q9H490 4 |
| Limited extraocular movements 0.3191534234913392 0.0613932063515232 0.9510460627017476 1.0 1.0 8 O95169 1 |
| Chorioretinal coloboma 0.3188388290067375 0.0604623975617156 0.9517873634325712 1.0 1.0 8 Q12768 1 |
| Postural instability 0.2740921074685951 0.0600713258391993 0.952098827372982 1.0 1.0 21 O75503,Q9NR77 2 |
| Dysphasia 0.2714052737036296 0.0586264585484088 0.9532496360495202 1.0 1.0 22 P49768,P21964,Q9NX14,P53701 4 |
| High myopia 0.3109068621343728 0.05677938217237 0.9547209380802212 1.0 1.0 9 P30533,Q9Y487,O15460 3 |
| Open mouth 0.2576029382566037 0.0562787772138873 0.9551197253644712 1.0 1.0 36 O43909,P04062,Q92581,Q86XL3,Q10713,P51812 6 |
| Velopharyngeal insufficiency 0.3268133659331637 0.0538899628721014 0.9570228335143294 1.0 1.0 6 Q86W42,Q96DF8,Q15427,Q12959,Q8WYQ5 5 |
| Allergy 0.3265417006248239 0.0532165321376628 0.9575593835386638 1.0 1.0 6 O14646,Q9Y5S9,P42345,Q01082,O95394 5 |
| Motor polyneuropathy 0.2909065919896835 0.0514535938762248 0.9589640795573464 1.0 1.0 14 P07196,P36551,Q15041,O43819 4 |
| Abnormal morphology of the musculature of the neck 0.2831300003070192 0.0509811142128007 0.9593405696509318 1.0 1.0 16 Q96L58,P35637,Q99720 3 |
| Hallux valgus 0.2787748231764509 0.0503729398307805 0.9598251998891918 1.0 1.0 17 P04062,Q15233,Q9Y4P3,P57740,Q96L58 5 |
| Fatigable weakness of swallowing muscles 0.2902023668560838 0.0485304229864799 0.9612935189625238 1.0 1.0 14 Q15165,P35637 2 |
| Dysplastic corpus callosum 0.2962119277923653 0.0478821995032192 0.9618101258558084 1.0 1.0 12 P20700,Q9NVI7 2 |
| Abnormal circulating bilirubin concentration 0.2544290983444918 0.0471264000784484 0.96241248648887 1.0 1.0 28 P23786,Q9UJS0,Q9UGP8,O75845,P40855,Q14739,P41440 7 |
| Cholestatic liver disease 0.3195825045121885 0.0469138926721187 0.9625818555350764 1.0 1.0 7 Q9UHJ6,P40939 2 |
| Supernumerary spleens 0.3000508475660389 0.0451176879518841 0.9640135028315862 1.0 1.0 11 O95202 1 |
| Colpocephaly 0.306399814203314 0.0428191844432403 0.9658456710397418 1.0 1.0 9 Q9NX14 1 |
| Inappropriate laughter 0.3061744688663387 0.042135438075475 0.9663907297469014 1.0 1.0 9 P49768,Q96S52,Q92581 3 |
| Palpebral edema 0.305429418065323 0.0398845049072962 0.9681852045662218 1.0 1.0 9 Q3T906 1 |
| Motor axonal neuropathy 0.2755173900627732 0.0398447369781374 0.9682169095802852 1.0 1.0 18 Q9BTW9,O15269,O60313,Q9H0B6,O95831 5 |
| Fragile skin 0.3053085434585407 0.0395207283740355 0.9684752275726844 1.0 1.0 9 Q96L58,Q8NCH0 2 |
| Brachydactyly 0.2411719352580322 0.0393151203009017 0.9686391516796388 1.0 1.0 92 O43909,P16435,Q12768,Q06136,O43924,Q8WVQ1,Q7RTS9,O14521,Q9UBM7,Q96DX4,P02545,Q9UHX1,P21912,P51812,Q14739,Q7Z4L5,Q92643 17 |
| Drowsiness 0.3202932044767894 0.0381629801608713 0.9695577369329382 1.0 1.0 6 Q9UJS0 1 |
| Wide intermamillary distance 0.2513302662226138 0.0357211924047404 0.971504672239028 1.0 1.0 27 P23786,Q3T906,Q9UM00,Q96EK5,Q15555,P48444,Q8WTW3,Q9UBM7,Q9NP72,O14678 10 |
| Bone spicule pigmentation of the retina 0.30307916785891 0.0328820102809177 0.9737686787542345 1.0 1.0 9 Q9UG56 1 |
| Abnormality of the nasal dorsum 0.2403669822124447 0.0314135276288347 0.97493975298825 1.0 1.0 62 O95202,O95721,Q96J42,Q6NUK1,O75431,Q8WVQ1,Q9Y2B2,P02545,O75844,Q15125 10 |
| Myoclonic spasms 0.3204992473755388 0.0310514376751922 0.9752285180953976 1.0 1.0 5 Q10713 1 |
| Abnormality of dental structure 0.2407631756399788 0.0300663787080862 0.9760141145059598 1.0 1.0 83 Q6P4Q7,Q9NX14,P51648,Q9HC07,Q13586,O75431,Q9Y4P3,P51798,P02545,O75844,Q9Y487,P21964 12 |
| Ureterocele 0.3191200434546536 0.0282147373342312 0.9774908832108876 1.0 1.0 5 Q15149,P09471,Q13608,O14936 4 |
| Abnormal synaptic transmission at the neuromuscular junction 0.2549038827448673 0.0255464743453218 0.9796190794017507 1.0 1.0 33 P29992,Q13586,Q9H3H5,P53007,Q15165,Q92804,Q9H9S5,P35637 8 |
| Lymphoproliferative disorder 0.3129584352078244 0.0215644137298571 0.982795420656059 1.0 1.0 6 P17812,P01111,P50851,Q9H0U3,P33991 5 |
| Abnormal emotion affect behavior 0.2319249710123532 0.0161054708654044 0.9871502489624326 1.0 1.0 249 Q7KZN9,P05023,Q9HC21,Q15907,O75503,Q9H3H5,P07602,Q15165,Q92804,P51572,P50897,Q9UBB4,O43772,Q8N1F7,Q15067,Q5KU26,Q9UJS0,P35670,Q8N183,Q15233,P49589,Q9NZJ7,P54802,O14521,Q9UHX1,Q13510,P21912,P55795,Q15125,P51812,Q96CU9,P06865,Q96RL7,Q9NZ08,P35610,P35637,P37268,P04062,O43681,Q01105,Q9P0J0,Q92581,Q9UBM7,Q10713,Q6DKK2,O95831,Q5BJH7,Q9Y2B2,P17900,Q8NB90 50 |
| Oligomenorrhea 0.3102417821244113 0.0157116654723042 0.9874644204453442 1.0 1.0 6 P31751,Q8N5K1,O00170,P40818,Q15031 5 |
| Abnormality of renal excretion 0.3055257988242998 0.0123239745525653 0.990167139880448 1.0 1.0 7 O43772 1 |
| Bladder neoplasm 0.2923552325957431 0.0092614381347115 0.9926105471390798 1.0 1.0 10 O43683 1 |
| Widely spaced teeth 0.2526341529551497 0.0088510956673338 0.9929379396301636 1.0 1.0 33 Q9BTW9,Q96S52,P51571,Q15233,Q96A33,P16278,P51812,Q9Y2B2,P08236 9 |
| Cerebral hemorrhage 0.2767923781346731 0.0085996209124204 0.9931385798163096 1.0 1.0 15 O14521,P23786 2 |
| Abnormal morphology of the conjunctival vasculature 0.2886325359618868 0.0074713753956527 0.994038760384738 1.0 1.0 11 P10619,P04066,Q9NW15 3 |
| Nonprogressive 0.3020995766523792 0.0045911961988515 0.996336768306918 1.0 1.0 7 Q9NQZ5 1 |
| Hydroureter 0.2686761347424415 0.0035519172324207 0.9971659860380446 1.0 1.0 17 Q7LGA3 1 |
| Skin tags 0.2615461204060363 0.0034309351141168 0.9972625152139638 1.0 1.0 22 O95202,Q9UHX1,Q12768 3 |
| Abnormal systemic arterial morphology 0.2319088752372901 0.0030548166635334 0.9975626127389948 1.0 1.0 164 P10619,Q6NUK1,Q9Y4P3,O15460,P07602,Q96L58,P03886,O43683,P61916,Q9NX14,P38435,P49589,Q9NZJ7,O14521,O75844,Q9UHX1,Q13510,P21912,P06865,Q9NWM8,P10253,P03915,Q6ZXV5,O75845,P02545,P21964,O14678,P04062,P53701,Q7LGA3,Q9UBM7,P16278,P17900 33 |
| Narrow mouth 0.23844087054444 0.0027006265949832 0.9978452143546496 1.0 1.0 84 P04062,P16435,Q15392,Q8NCH0,Q7LGA3,O75431,Q6NUK1,Q8WTW3,Q8WVQ1,Q9NVI7,P02545,O75844,Q9Y487,Q9Y619,P21964 15 |
| Hypogonadotropic hypogonadism 0.2517459458668775 0.0023588995449145 0.9981178722181154 1.0 1.0 31 P00403,P03886,Q9Y4P3 3 |
| Shoulder girdle muscle atrophy 0.3028452439833806 0.0005850828859083 0.999533171425178 1.0 1.0 6 Q9H9S5 1 |
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