| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Action tremor 0.5881309208633313 3.3194545108816413 0.0009019349798529 0.9849018509935846 0.0208521982655547 60 Q99720,Q14108,O75027,O14773,Q9NR77,O75787,Q9H6K4,Q9BUB7,P03886,P20700,P07602,Q15233,P00846,Q9Y4W6,Q9Y448,P41440,O75569,O75306,Q01082,O43681,Q9NQH7 21 |
| Abnormality of peripheral nerves 0.5955434897432718 3.2247614436621457 0.0012607767889791 0.997155949993146 0.0271242117517881 51 Q9NR77,Q99720,P07602,O95831,P02545,Q71SY5,P39210,O43681,Q9GZY8,P07196,Q00796 11 |
| Abnormal peripheral nervous system physiology 0.5664006523540751 3.036004101587628 0.002397361031472 0.9999856808397344 0.0443846084193248 55 Q9NR77,Q99720,P07602,Q7Z406,O95831,P02545,Q71SY5,P39210,O43681,Q9GZY8,P07196,Q00796 12 |
| Juvenile onset 0.59524366693262 3.024299153646645 0.002492098809349 0.9999907901538664 0.0459554887581159 46 P35579,Q9NR77,P16278,O15118,P22466,Q03252,P02545,P06753,Q14566,Q8NHS3,P39210,O75027,P54802,P07196,P41440,P06280 16 |
| Abnormal nerve conduction velocity 0.6052954480598592 3.0229277223806146 0.0025034202730587 0.9999912633173028 0.0459817945015963 44 Q9NR77,Q99720,P07602,O95831,P02545,Q71SY5,O43681,Q9GZY8,P07196,Q00796 10 |
| Abnormal metatarsal morphology 0.6748872333121573 3.000973677171612 0.0026911782779082 0.9999963572203228 0.0486611107293364 31 Q8WVQ1,Q96L58,Q7RTS9,Q15392,O43505,Q03252,Q9Y448,Q9H9S5,P08236,Q9Y366,Q9UBM7,O96028 12 |
| Toe walking 0.718184191804798 2.893916096587788 0.0038046981332888 0.9999999797305728 0.0645799155277755 23 Q99720,P07602,Q8TD16,O95831,P02545,Q01082,Q9H9S5,O43681 8 |
| Abnormal motor nerve conduction velocity 0.7121536435144517 2.8055840610683376 0.0050225478861976 0.9999999999311154 0.0818939650075798 21 Q9NR77,Q99720,Q71SY5,P07196,Q00796 5 |
| Abnormality of the gallbladder 0.5856700505452305 2.796019913153011 0.005173621260722 0.9999999999659852 0.0840623006943198 42 P22830,P04066,P07602,Q15056,Q15437,Q71SY5,O43681,O00192,Q9UBM7,O96028,Q9UIG0 11 |
| Platyspondyly 0.6089129959085731 2.7906103436537486 0.0052608764497323 0.999999999977372 0.0851822050937505 36 P16278,O00754,P04066,Q8WVQ1,Q96L58,Q7RTS9,Q14739,O95831,P08236,Q96HY6,P00813,P48735 12 |
| Sensorimotor neuropathy 0.5891481353228356 2.757459445583457 0.0058252438628378 0.9999999999983809 0.0899332499355737 40 Q9NR77,P03886,O60313,P07602,P00846,Q7LG56,O95831,Q5KU26,P39210,P41440,Q9Y2R0,P07196,P00403 13 |
| Cone shaped epiphysis 0.7599801000015216 2.7444654140062914 0.0060609540733069 0.999999999999462 0.0932624290684024 16 Q15051,O15078,Q7RTS9,O95831,Q9Y366 5 |
| Slowly progressive 0.5270039896169042 2.731523251411245 0.0063042292417956 0.9999999999998276 0.0960516501200797 58 Q9NR77,Q99720,Q8IV08,O00584,O75787,O95831,P02545,O43707,O14773,P41440,Q13049,P07196 12 |
| Parkinsonism 0.6300570793483123 2.6993254929572488 0.006948018401623 0.9999999999999916 0.1051708192584442 31 Q99720,P07602,O75569,O96008,O75787,Q14203,Q9Y4W6,Q96RR1,P05067 9 |
| Peripheral demyelination 0.7008718102474187 2.695275265163081 0.007033050318038 0.9999999999999944 0.10565584892734 19 Q9NR77,P20700,P03886,P07602,P00846,O43681,P07196 7 |
| Bulbar signs 0.7942517889025917 2.6945313237335293 0.0070487700889925 0.9999999999999948 0.10565584892734 14 P03886,Q99720,P00846,P07602 4 |
| Abnormal muscle fiber morphology 0.4916848665596308 2.676117054543415 0.0074480627116897 0.9999999999999992 0.1105787457547035 75 Q99720,P51114,O96008,P02545,P06753,P05067,P13807,O60313,Q70HW3,O43676,Q7Z406,O95831,Q9BPX6,Q96RR1,Q13049,P00403,P03886,P23786,P00846,Q7LG56,Q9H9S5,P07196 22 |
| Inability to walk 0.4819631626319056 2.64667492150507 0.0081287452703548 1.0 0.1162285516041206 91 Q9NR77,P11166,Q99720,Q96N66,Q7RTS9,P00846,O75787,Q71SY5,Q9H9S5,O75503,Q96RR1,Q96CU9,P07196,Q9GZY8 14 |
| Abnormal gallbladder morphology 0.5947932792955122 2.637804536315836 0.008344466369385 1.0 0.1182217537150371 34 P22830,O43681,P07602,Q15437 4 |
| Aplasia hypoplasia involving the vertebral column 0.7170488833102412 2.636260432607297 0.0083825368035175 1.0 0.1184001474952764 17 P16278,P04066,Q7RTS9,O95831,Q14739,Q96HY6 6 |
| Distal muscle weakness 0.4891110015657612 2.616394253158995 0.0088863885189505 1.0 0.1243149961033835 70 Q9NR77,Q99720,Q7Z406,Q8TD16,P00846,Q14203,O95831,P02545,Q71SY5,P06753,P39210,P41440,P07196,Q00796 14 |
| Dysphagia 0.4070389806766942 2.5977718077875656 0.0093830826056704 1.0 0.1290035055282561 144 Q05639,Q99720,Q01105,Q14108,O15344,O15118,Q9HD42,Q8IZA0,Q8N3U4,P06753,P05067,Q9NR77,O60313,Q9UHX1,Q8N0X7,P15586,Q14203,Q14739,Q96RR1,P29372,P03886,P20700,P55011,O95155,P07602,Q15233,P00846,Q7LG56,Q9Y4W6,P48735,P17480,P61916,O75569,O75306,Q14331,P42356,Q8NFF5,Q9UEY8,Q9GZY8 39 |
| Vitamin b12 deficiency 0.9664927217797308 2.571174918572523 0.010135412032775 1.0 0.1361250280818078 2 P41440 1 |
| Peripheral hypermyelination 0.9659434221367748 2.568926716510809 0.0102014028313983 1.0 0.1366164811455568 2 Q9NR77 1 |
| Alveolar ridge overgrowth 0.9634715737434764 2.5588031344292124 0.0105033202736466 1.0 0.1394540837475313 2 Q15392 1 |
| Supranuclear gaze palsy 0.6712809829601898 2.5433185168738404 0.0109805082050193 1.0 0.1437363989541552 20 Q99720,P07602,O15118,P61916,Q14203,Q96RR1,Q969N2 7 |
| Abnormal femoral neck morphology 0.5488053684700417 2.5355306373984643 0.0112277106746583 1.0 0.1457946542733582 43 P16278,O00754,P55011,P04066,Q8WVQ1,Q96L58,Q9Y487,Q7RTS9,O75718,O95831,P02545,O75431,O75530,O75844,P11274,Q96HY6 16 |
| Impaired proprioception 0.5254493393084351 2.5251039871555307 0.0115664058786728 1.0 0.1468554320169201 48 Q9NR77,Q5THJ4,P20700,P41440,Q8IV08,Q8N0X7,P00846,Q9Y448,O75298,Q9H6K4,O14773,P54802,Q5TAQ9,Q96RR1,Q9Y619,P07196,Q00796 17 |
| Clumsiness 0.6730168323747602 2.515118119845394 0.0118992509472619 1.0 0.1494511232858421 18 Q9NR77,P07602,P06753,O14773,O43681,O75503,Q96RR1 7 |
| Abnormal peripheral myelination 0.5740072276590379 2.507014162559021 0.0121755833110084 1.0 0.1497217772885583 35 Q9NR77,P20700,P03886,P07602,P00846,P02545,Q01082,P39210,O43681,P07196 10 |
| Dysdiadochokinesis 0.7350266329341061 2.500658640866905 0.0123962599425084 1.0 0.1504515948912783 15 O75503,P41440,O75027,Q6DKK2 4 |
| Cystathioninemia 0.9489151332051629 2.498965066046719 0.0124556588881103 1.0 0.1507329345131485 2 Q9NUN5 1 |
| Proximal muscle weakness 0.4888144490265401 2.4969378761998287 0.0125270900753196 1.0 0.1512036041039226 65 Q99720,P51114,Q8TD16,P02545,P06753,Q13126,P10253,Q00796,O60313,Q7Z406,Q9BPX6,Q96RR1,Q13049,P50336,P00846,Q7LG56,Q9H9S5,Q8NAT1,Q8NFF5,P07196 20 |
| Limb muscle weakness 0.4691153217154517 2.491181346647972 0.0127319116527802 1.0 0.1532777032395585 89 Q9NR77,Q99720,Q8N0X7,P00846,Q7RTS9,Q7Z406,Q14203,Q14739,P02545,P06753,O75298,Q13126,P39210,Q96RR1,Q13049,P07196,P50336,Q00796 18 |
| Disproportionate short stature 0.628710456824797 2.4853574828098535 0.0129421396944147 1.0 0.1554060029972743 27 O00116,P16278,Q9UHX1,Q8WVQ1,Q7RTS9,Q15392,O75718,Q96HY6,Q9Y366,Q9UBM7 10 |
| Glomerulopathy 0.796734373626456 2.483875160846591 0.0129961359670585 1.0 0.1556521748425796 11 Q03252,Q14108,P06280,Q9NZ08 4 |
| Biliary tract abnormality 0.6064933552527294 2.482149344044698 0.0130592529635451 1.0 0.1560060373305767 30 Q14108,P07602,O15078,P14174,O43681,O96028,Q9NUN5 7 |
| Incoordination 0.4728812522192879 2.480622376534084 0.0131153234890812 1.0 0.1562741237275916 76 Q9NR77,O00754,P07602,Q7RTS9,P00846,O75787,P06753,Q9H9S5,O14773,O43681,O75530,O75503,Q96RR1,Q9NUN5,Q6DKK2 15 |
| Abnormal femoral neck head morphology 0.507531890430678 2.4612142742916325 0.0138467640691206 1.0 0.1641477362989891 51 P16278,O00754,P55011,P04066,Q8WVQ1,Q96L58,Q9Y487,Q7RTS9,O75718,Q14739,P02545,O95831,O75431,O75530,O75844,P11274,Q96HY6 17 |
| Abnormality of the peripheral nervous system 0.4503507133372998 2.446171461562078 0.0144382318638431 1.0 0.1690036863256405 108 Q99720,Q71SY5,P02545,P39210,O00192,Q9UBM7,Q96EK5,P06280,Q00796,Q9NR77,Q7Z406,O95831,P42892,Q96RR1,P50336,P20700,P07602,O15078,Q8WXW3,P41440,O43681,P07196,Q9GZY8 23 |
| Foot dorsiflexor weakness 0.5756555056369788 2.4336213150208263 0.0149486251516552 1.0 0.1741009049617597 33 Q9NR77,Q99720,Q9BQT8,Q7LG56,Q14739,P02545,P06753,P39210,P07196 9 |
| Ectrodactyly 0.7217240274034981 2.4310854104241635 0.0150536654656581 1.0 0.1744444844907116 15 Q9NR77,Q99720,O96028,P07196 4 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 0.932436143916505 2.4307676761788772 0.0150668721364541 1.0 0.1744444844907116 2 O75503 1 |
| Lower limb amyotrophy 0.6584794476045523 2.4301939978419163 0.0150907430095257 1.0 0.1744444844907116 18 Q9NR77,Q8TD16,P02545,P06753,P07196 5 |
| Abnormality of the metaphysis 0.4891249805377451 2.4241879202788574 0.0153426639187423 1.0 0.1753926682794265 61 P16278,Q8WVQ1,Q96L58,Q9HC07,Q7RTS9,P48735,Q14739,O95831,Q13126,P51798,O75530,Q9Y366,P00813,Q96HY6 14 |
| Coxa vara 0.6997886772629933 2.422851333877683 0.0153992271697882 1.0 0.1753926682794265 16 Q8WVQ1,Q9Y487,Q7RTS9,O75718,O95831,Q96HY6 6 |
| Abnormality of femur morphology 0.4668633545521973 2.4164860236335226 0.0156711278457775 1.0 0.1780531322721958 76 O00116,Q7RTS9,P02545,P06280,P16278,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,O75718,Q14739,O95831,O00754,P55011,P07602,O75431,P51798,O75530,P11274,P04066,Q96HY6,O75844 22 |
| Abnormality of the pubic bone 0.8229873304298378 2.404268243366264 0.0162048776348167 1.0 0.1786066809121084 9 O96028,Q7RTS9 2 |
| Aplasia hypoplasia of the colon 0.9255698983795658 2.4022095480296892 0.0162963702833514 1.0 0.1786066809121084 2 O75844 1 |
| Prominent umbilicus 0.9255698983795658 2.4022095480296892 0.0162963702833514 1.0 0.1786066809121084 2 O75844 1 |
| Epidermal hyperkeratosis 0.9255698983795658 2.4022095480296892 0.0162963702833514 1.0 0.1786066809121084 2 O75844 1 |
| Stiff skin 0.9255698983795658 2.4022095480296892 0.0162963702833514 1.0 0.1786066809121084 2 O75844 1 |
| Abnormal shoulder physiology 0.9255698983795658 2.4022095480296892 0.0162963702833514 1.0 0.1786066809121084 2 O75844 1 |
| Shoulder girdle muscle weakness 0.6747692102688783 2.399970693940266 0.0163963844862384 1.0 0.1788905605223429 17 P07602,Q8TD16,Q7LG56,P06753,Q9H9S5,Q96RR1,Q13049 7 |
| Increased connective tissue 0.8533340750855407 2.399595098713287 0.0164132158113485 1.0 0.1788905605223429 8 P02545,P07196,O75431,O95831 4 |
| Dysostosis multiplex 0.851871234797619 2.3934145200040957 0.0166923704069839 1.0 0.1808145577651612 8 P16278,O00754,P04066,P15586,P54802,P10619 6 |
| Progressive gait ataxia 0.7730956111670677 2.3730130053726155 0.0176436426641737 1.0 0.1864760511244655 11 Q96RR1,P00846,P07602,O43681 4 |
| Visual loss 0.4876517368058872 2.3625383940890603 0.0181502612672996 1.0 0.1898626687512288 58 O14773,O75503,A2RRP1,O60313,Q96JJ3,Q8NHS3,P00403,P03886,P07602,Q15046,P50897,O15078,P00846,P52732,P51798,P04439,Q15051,O75306,Q01082,Q9NWW5 20 |
| Abnormal pyramidal sign 0.4153977845875432 2.361903316726929 0.0181813831707116 1.0 0.1898626687512288 130 Q99720,O75298,O75027,O14773,Q9NR77,P11166,O60313,Q8N0X7,O75787,O95831,O75251,Q9H6K4,Q969N2,Q6DKK2,P20700,O00754,P07602,Q15046,P00846,Q7LG56,Q9Y4W6,Q9H9S5,P41440,P04066,O75569,Q9NZ08,O75306,O43681,P07196,Q9UEY8 30 |
| Paresthesia 0.588509190295992 2.3575760159541175 0.0183946887567525 1.0 0.1912306904980515 30 Q9NR77,Q9NZ08,P07196,P06280,P54802,P05067 6 |
| Dementia 0.4837245377878754 2.3552571525257315 0.0185098913836803 1.0 0.1919988063838446 60 P03886,P20700,O60313,Q14108,P07602,P27544,O15118,P61916,O96008,Q9Y487,P00846,Q7LG56,Q14203,O43681,Q9NWW5,Q96RR1,P05067 17 |
| Postural instability 0.6862494607077273 2.3488003878242 0.0188340005859608 1.0 0.1944800623982073 16 Q9NR77,O75503 2 |
| Abnormal sella turcica morphology 0.7789484230598076 2.3479974196068567 0.0188746520640394 1.0 0.1944800623982073 10 P16278,O00754,Q7RTS9,O75431 4 |
| Extra axial cerebrospinal fluid accumulation 0.9121120571271618 2.345993530026251 0.0189764368745102 1.0 0.1945946297861036 2 Q03252 1 |
| Heterogeneous 0.5136194528657565 2.345634883694262 0.0189947043700438 1.0 0.1945946297861036 46 Q9NR77,P11717,P03886,Q9Y3D3,Q15555,O15344,Q15051,P61916,P00846,Q9NWH9,Q14203,P02545,P06753,P07196,O75844,P05067,P29372 17 |
| Ventricular arrhythmia 0.5290241785075261 2.3416491880969423 0.0191987512466562 1.0 0.1960804330620036 42 P03886,P49748,P23786,P00846,O43772,Q7LG56,P02545,P10253,P42892,P09493,Q96RR1,Q8NFF5,P50336 13 |
| Abnormal pericardium morphology 0.7654642469563323 2.3369112498781472 0.0194437992697671 1.0 0.1972823912808032 11 P02545,Q14108,P14174,Q9NZ08 4 |
| Fibrous tissue neoplasm 0.6384591195138458 2.328547543151064 0.0198830477954381 1.0 0.1988286456798429 19 Q96JJ3,Q13126,Q15392,Q15437 4 |
| Kinetic tremor 0.549691910667509 2.323103406357095 0.0201735980382442 1.0 0.1997487981726107 35 P20700,Q14108,P07602,Q15233,Q9Y4W6,Q01082,Q9Y448,O75027,O43681,Q9BUB7,Q9NQH7,P41440 12 |
| Babinski sign 0.4528151126875567 2.320003571743724 0.0203406841204802 1.0 0.1997487981726107 91 Q9NR77,P11166,Q99720,P20700,P07602,Q8N0X7,P00846,Q969N2,O75787,O95831,O75298,O75027,O43681,O14773,P41440,P07196,Q6DKK2 17 |
| Abnormality of the ribs 0.4581293637494057 2.318804030462296 0.0204056645675847 1.0 0.1997487981726107 71 Q7RTS9,P02545,P54802,Q9UBM7,P16278,Q9UHX1,Q96L58,P15586,O75718,Q14739,O95831,P00813,O00754,O95155,O75431,O96028,Q96HY6,O60826,O75844 19 |
| Limb girdle muscle weakness 0.5967217627718557 2.31778806641995 0.0204608419862537 1.0 0.1997487981726107 28 P07602,Q8TD16,Q7LG56,Q14331,P02545,P06753,Q9H9S5,Q13126,Q96RR1,Q13049 10 |
| Hypertriglyceridemia 0.6288480564732971 2.3078722797450397 0.0210062412605409 1.0 0.1997487981726107 21 P22830,P28070,P02545,O75431,Q969N2 5 |
| Periventricular white matter hyperintensities 0.8284038524175813 2.2936499340071936 0.0218106147075256 1.0 0.2039650096309334 8 O75503,P07602 2 |
| Muscle stiffness 0.6212993015048142 2.282029852542516 0.0224875778450048 1.0 0.2057897544644785 22 P11166,P07602,P23786,P00846,P53985,Q15392,P52732,P06753 8 |
| Abnormal biliary tract morphology 0.6028147457180346 2.2736693864256803 0.0229858721427238 1.0 0.2077573272661749 26 Q14108,P07602,O15078,P14174,O43681,Q9NUN5 6 |
| Abnormal circulating lipid concentration 0.452591041729767 2.268173533011974 0.0233186319409635 1.0 0.2095970650476932 79 P22830,O43772,P02545,Q9UBM7,P06280,P49748,P28070,Q15392,Q14739,Q969N2,P07602,Q15056,P23786,Q03252,O43707,O75431,P61916,P31751,O75844,Q9NUN5,Q9UIG0 21 |
| Amyotrophic lateral sclerosis 0.688038462706402 2.252353073414687 0.0242999687058911 1.0 0.2125919594228555 15 Q99720,Q15165 2 |
| Joint contracture of the hand 0.4770733137008161 2.247507388913387 0.0246076188966879 1.0 0.2130762001970689 57 Q9NR77,O95155,Q8WVQ1,Q8IZA0,Q15392,P02545,Q71SY5,P06753,P42892,O75530,O75844,P11274,P07196 13 |
| Demyelinating peripheral neuropathy 0.6211020256478148 2.2411313802620456 0.0250175660728813 1.0 0.2156206130294063 20 Q9NR77,P00846,P03886,P41440 4 |
| Phalangeal dislocation 0.8846470749794006 2.23028176390657 0.0257287430554236 1.0 0.2197821120929292 2 Q96L58 1 |
| Advanced ossification of carpal bones 0.8846470749794006 2.23028176390657 0.0257287430554236 1.0 0.2197821120929292 2 Q96L58 1 |
| Postural tremor 0.6160037721899126 2.2285650280589806 0.0258428601194995 1.0 0.2199688150222581 21 Q9NR77,P03886,P20700,Q14108,O75569,P00846,O75306,O14773 8 |
| Knee clonus 0.8840977753364467 2.227954188571329 0.0258835700676263 1.0 0.2199688150222581 2 O75298 1 |
| Muscle hypertrophy of the lower extremities 0.7531739637723833 2.227818714426752 0.0258926063733968 1.0 0.2199688150222581 10 Q9NR77,P02545,Q9H9S5,Q14331 4 |
| Abnormality of the shoulder girdle musculature 0.5284476878938853 2.2269735552696504 0.0259490412279244 1.0 0.2200459755221984 38 P07602,Q9Y487,Q8TD16,Q7LG56,Q14331,P02545,P06753,Q9H9S5,Q96RR1,Q13049,P07196 11 |
| Asymmetric septal hypertrophy 0.8824498764075781 2.2209683544657297 0.0263531048500347 1.0 0.2230653519819879 2 P54802 1 |
| Suicidal ideation 0.8821752265861029 2.2198035959425524 0.0264321027285876 1.0 0.223107314177939 2 Q01082 1 |
| Giant platelets 0.8819005767646242 2.2186387081461976 0.0265113139249983 1.0 0.223107314177939 2 P35579 1 |
| Positive romberg sign 0.7404813346284282 2.217657367160845 0.0265782031862544 1.0 0.223107314177939 11 Q96RR1,P41440,P07196,Q8IV08 4 |
| Premature rupture of membranes 0.8849712510597199 2.217365613725116 0.0265981175069029 1.0 0.223107314177939 6 Q9Y487,O75844 2 |
| Distal lower limb amyotrophy 0.6982325297911567 2.2084075353964865 0.0272158769874999 1.0 0.2268040855172547 14 Q9NR77,P02545,Q8TD16,P07196 4 |
| Impaired pain sensation 0.6127148801552342 2.208146525807302 0.0272340606237633 1.0 0.2268040855172547 21 Q9NR77,Q13045,O15269,O95714,O95831,O95140,P39210,P07196,P17480,Q14683,Q00796 11 |
| Abnormality of the calf 0.447254761354308 2.202723097386225 0.0276142712859279 1.0 0.2295590673805139 71 Q7RTS9,Q13126,Q9NR77,P16278,Q8WVQ1,Q8N0X7,Q96L58,O75718,O95831,O00754,Q15056,P08236,O75431,P51798,Q9NX62,Q9NWH9,Q01082,Q96HY6,Q9NUQ7,Q9UIG0 20 |
| Hammertoe 0.6172575103568944 2.2003854228603026 0.0277795611798246 1.0 0.2298566337432459 19 Q9NR77,Q99720,P07196,P39210 4 |
| Beaking of vertebral bodies 0.7772129697787282 2.2003614519766517 0.0277812604977123 1.0 0.2298566337432459 9 P16278,Q96L58,Q7RTS9,P04066 4 |
| Vascular skin abnormality 0.3959299982688786 2.2001189507277132 0.0277984566739195 1.0 0.2298566337432459 135 P22830,Q14108,Q8IZA0,Q8WVM7,P02545,Q13126,O00192,Q9UBM7,P06280,P16278,P35579,Q8NCH0,Q96L58,Q9Y487,Q96JJ3,Q14739,Q969N2,P10619,P03886,O95155,P00846,P51798,P78536,Q9UQE7,P04066,O75306,Q15437,Q14331,O75844 29 |
| Abnormality of extrapyramidal motor function 0.4461268322412414 2.1993777086988984 0.0278510763213213 1.0 0.2298826850180821 80 Q99720,P98175,O96008,P06753,P05067,P16278,P11166,O75787,Q14203,O75251,Q9H6K4,Q9BPX6,Q96RR1,Q6DKK2,P07602,Q15056,Q7LG56,Q9Y4W6,O75569,Q9NWW5,Q9UIG0 21 |
| Gait ataxia 0.446568704436202 2.1986573387380854 0.0279022965533082 1.0 0.2298971136227363 77 Q14108,O15118,O14773,Q9P0J1,Q9NR77,Q5THJ4,Q96RR1,Q5H8A4,P03886,P20700,O00754,P07602,Q8IV08,P00846,Q7LG56,Q03252,Q9Y4W6,P41440,P17480,O43681,P07196 21 |
| Abnormal enchondral ossification 0.5655436399158801 2.196065086322696 0.0280872851170053 1.0 0.2310117060862366 30 O00116,Q8WVQ1,Q96L58,Q7RTS9,Q14739,P08236,Q96HY6,O96028,Q9UBM7 9 |
| Disproportionate short limb short stature 0.6066014532574966 2.189929446295508 0.0285293540350264 1.0 0.2337285335635005 22 O00116,Q8WVQ1,Q7RTS9,Q15392,O75718,Q9Y366,Q9UBM7 7 |
| Aplasia hypoplasia of metatarsal bones 0.7346091799213736 2.1893901175657033 0.0285684973238795 1.0 0.2337285335635005 11 Q9Y366,Q9Y448,Q7RTS9 3 |
| Abnormality of the odontoid process 0.8037418550513105 2.187563431334538 0.0287014180198874 1.0 0.234268612452505 8 Q7RTS9,O95831 2 |
| Splenomegaly 0.4367997071827492 2.1830881080887146 0.0290293221567918 1.0 0.2346507935209117 98 Q14108,O15118,P14174,P02545,P10253,P54802,O00192,P16278,P11166,P28070,Q15392,P15586,Q14739,P00813,O14936,O00754,P07602,P08236,P11274,P04066,P61916,Q9NZ08,Q15437,Q96HY6 24 |
| Abnormal acetabulum morphology 0.5981178470339404 2.180259029435273 0.029238266202936 1.0 0.2354769896794517 24 P16278,Q8WVQ1,Q96L58,Q7RTS9,O75718,P08236,Q9Y366 7 |
| Abnormal csf protein level 0.6555943207340216 2.178790506627709 0.0293472345186915 1.0 0.2359456726788232 16 P03886,P20700,Q9NR77,P55011,P07602,Q7LG56,O43681,Q16625,P00403 9 |
| Respiratory arrest 0.8013904040434635 2.1773821157688795 0.0294520689293611 1.0 0.235972007439209 8 P23786,Q96L58,O43772,P49748 4 |
| Neck muscle weakness 0.6157125631556217 2.175462005874245 0.0295955123144209 1.0 0.2360087885905516 18 Q99720,P07602,P02545,P06753,Q13049 5 |
| Hypothermia 0.7175033401063667 2.158833332842774 0.0308630994768808 1.0 0.2421381302254975 12 P03886,P20700,P00846,O43772 4 |
| Hypoplasia of the odontoid process 0.8227311796744996 2.1535678377481293 0.0312740787719234 1.0 0.2444515470754979 7 Q7RTS9,O95831 2 |
| Clonus 0.5192079154867228 2.1532443836427366 0.0312994771917196 1.0 0.2444515470754979 38 P20700,Q99720,P07602,O75787,Q01082,O75298,Q9H9S5,O75027,Q969N2 9 |
| Increased cerebral lipofuscin 0.8668409919908192 2.145028960086657 0.0319505315868209 1.0 0.2482844820801954 6 O75503,Q9NWW5,P07602,P50897 4 |
| Abnormality of tibia morphology 0.6484621191330588 2.138770161372847 0.0324542871647433 1.0 0.2513584540909368 16 Q7RTS9 1 |
| Rhizomelia 0.7020524363291352 2.137767690750422 0.0325356025021938 1.0 0.2515689597798586 13 O00116,Q7RTS9,Q15392,O75718,Q9Y366,Q9UBM7 6 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.7625227524171256 2.133907204051206 0.032850377660456 1.0 0.2535809052959125 9 Q7RTS9 1 |
| Short nail 0.8617779389189624 2.1247278385373325 0.0336093291536219 1.0 0.2589781138352432 6 P02545,Q9Y487,O75844 3 |
| Difficulty walking 0.4377553955950737 2.1241090673545298 0.0336610244795538 1.0 0.2589781138352432 86 Q9NR77,Q99720,P07602,P00846,Q7RTS9,Q8TD16,Q71SY5,Q96F07,P06753,Q9H9S5,O75298,O14773,O43681,Q9BPX6,Q00796 15 |
| Corticospinal tract hypoplasia 0.8593792914034613 2.1226823343552312 0.0337804803224313 1.0 0.2594675901790715 2 P11177 1 |
| Abnormal vascular physiology 0.4649642188410736 2.118728670074335 0.0341134039461954 1.0 0.2615923896666175 56 Q14108,Q8IZA0,P02545,Q71SY5,P42224,P06280,P05067,Q14739,O14678,O96000,P00403,P03886,P20674,Q15056,Q9NWM8,P51798,P04062,P35222,P31749,Q9NZ08,P25705,O75844,Q9UIG0 23 |
| Finger agnosia 0.8571820928316358 2.1132752089501894 0.0345772193364675 1.0 0.2631774129958796 2 P05067 1 |
| Deposits immunoreactive to beta amyloid protein 0.8571820928316358 2.1132752089501894 0.0345772193364675 1.0 0.2631774129958796 2 P05067 1 |
| Polyneuropathy 0.5992846681385237 2.1065071962282653 0.0351603186801681 1.0 0.265243507965489 20 P03886,P04066,P07602,P00846,O95831,Q01082,Q9HC21 7 |
| Frequent falls 0.4857952363048231 2.1031793152445637 0.0354500977208487 1.0 0.2660876360114536 46 Q9NR77,P07602,Q7RTS9,P00846,O75787,P06753,Q9H9S5,O43681,Q96RR1 9 |
| Abnormal rib cage morphology 0.4358886496416473 2.0959490092814734 0.0360867144975791 1.0 0.2696060486659973 84 Q7RTS9,P02545,P54802,Q9UBM7,P16278,Q9UHX1,Q8WVQ1,Q96L58,P15586,O75718,O95831,Q14739,P00813,O00754,O95155,P08236,O75431,O96028,P04066,Q96HY6,O60826,O75844 22 |
| Proportionate short stature 0.514754448052696 2.094555974906338 0.036210482277738 1.0 0.2700964865885211 37 P16278,Q8WVQ1,Q96L58,Q13555,Q7RTS9,Q15392,P52732,Q96HY6,P10619 9 |
| Abnormal epiphyseal ossification 0.6210421462616068 2.090155947011746 0.0366037933369844 1.0 0.2717217693881261 17 O00116,Q96L58,Q7RTS9,Q14739,Q96HY6,Q9UBM7 6 |
| Hyperlipidemia 0.5503334303414594 2.0876018541621044 0.0368337646146541 1.0 0.2725581276501558 30 P22830,P23786,P28070,O75844,O43707,P02545,O75431,Q969N2,P06280 9 |
| Monochromacy 0.8505904971161751 2.0850061005354763 0.0370687467787922 1.0 0.2738608366948291 2 Q6P4Q7 1 |
| Contractures of the joints of the upper limbs 0.4352171973618524 2.0827027078307045 0.0372783304828101 1.0 0.274120171177495 82 Q9NR77,Q99720,O95155,Q8WVQ1,P23786,Q96L58,Q8IZA0,Q15392,Q71SY5,P02545,P06753,P42892,O75530,O75844,P11274,P07196 16 |
| Segmental peripheral demyelination remyelination 0.805880818274407 2.0826754662974727 0.0372808151891923 1.0 0.274120171177495 7 P03886,Q9NR77,P00846 3 |
| Metatarsus adductus 0.6561855109710412 2.0799706475419173 0.0375282252227002 1.0 0.2755034164453209 15 Q96L58,Q15392,Q03252,O96028,Q9UBM7 5 |
| Microcytic anemia 0.7211823470547143 2.076335434422485 0.0378629382272803 1.0 0.2766494873304589 10 P22830 1 |
| Cone shaped epiphyses of the phalanges of the hand 0.7767748179946635 2.07011514377205 0.0384415630702816 1.0 0.279441658797808 8 Q7RTS9 1 |
| Aplasia hypoplasia involving the pelvis 0.6174736568868993 2.0692000361874725 0.0385273193339592 1.0 0.279441658797808 17 Q8WVQ1,Q96L58,O95831,O75431,Q96HY6,O96028 6 |
| Loss of subcutaneous adipose tissue in limbs 0.92607859302006 2.0688824613102352 0.0385571177858139 1.0 0.279441658797808 4 O75844,O75431,Q03252 3 |
| Cognitive impairment 0.3899223088485514 2.068733897004543 0.0385710644856414 1.0 0.279441658797808 185 Q99720,Q14108,P27544,O15118,O96008,P54802,O75503,P05067,P06280,P16278,P11166,O60313,Q8N0X7,Q9Y487,Q14203,O95831,Q8NHS3,Q9H6K4,Q6PGP7,Q96RR1,Q6DKK2,P00403,P03886,P20700,P07602,Q15046,P50897,P00846,Q7LG56,Q9Y4W6,Q96F07,Q9H9S5,Q9Y2R0,P17480,Q9UQE7,P61916,O75569,Q9NZ08,O75306,Q15437,Q01082,O43681,Q9NWW5,P07196,Q9UEY8 45 |
| Metaphyseal striations 0.8863378960116925 2.0624867704274163 0.0391614158092332 1.0 0.282775518054809 5 Q13126 1 |
| Disproportionate short trunk short stature 0.8460943092914646 2.061566535061201 0.0392490228416939 1.0 0.282775518054809 6 P16278,Q7RTS9 2 |
| Ovarian cyst 0.5967407513992543 2.06011948563364 0.0393871194994777 1.0 0.2833311831487196 18 P20585,Q15056,Q15437,Q03252,P02545,P31751,Q9UIG0 7 |
| Abnormal head movements 0.686557131632395 2.058685659314753 0.0395243608892503 1.0 0.283878987716146 13 P20700,Q99720,Q969N2,P11166 4 |
| Hemolytic anemia 0.5142710012173646 2.0488619342626677 0.040475617487379 1.0 0.2873995334618785 35 P22830,P00390,P00813 3 |
| Short thorax 0.7718690893613928 2.0485890020253827 0.0405023209751411 1.0 0.2873995334618785 8 Q9Y366,Q7RTS9 2 |
| Hypoplastic iliac wing 0.944259868273593 2.048093271125024 0.0405508611214304 1.0 0.2873995334618785 3 Q7RTS9 1 |
| Lumbar hyperlordosis 0.590938268262977 2.038755164017936 0.041474469144578 1.0 0.2922456982508828 19 Q9H9S5,Q7RTS9,P04066,Q96HY6 4 |
| Abnormal ovarian morphology 0.5128820680737547 2.037957368150425 0.0415541965478436 1.0 0.2922456982508828 35 P20585,Q15056,O15078,P51809,Q15437,Q03252,P02545,P31751,Q96RK4,Q13049,Q9UIG0 11 |
| Limb ataxia 0.5671806771303669 2.0366420228381177 0.04168592838966 1.0 0.2922456982508828 26 P31040,Q9NR77,Q5THJ4,Q14108,O00754,Q8IV08,Q10713,Q9Y4W6,O75298,O14773,P04062,P41440,P07196 13 |
| Ventricular hypertrophy 0.478104786073765 2.035176642982403 0.0418331023510392 1.0 0.2922456982508828 46 P03886,P23786,O43772,O75787,P00403,P02545,Q7LG56,Q9H9S5,P10253,O75431,P78536,Q96RR1,O75844,P06280,P13807 15 |
| Abnormal social behavior 0.4318112234471032 2.0351509201419624 0.041835689721694 1.0 0.2922456982508828 72 Q9UIG0,Q96N67,Q5KU26,P05067,P11166,Q9UHX1,O43676,O75251,Q96RR1,P03886,P07602,Q15056,Q96CU9,Q9Y3C6,O75306,Q01082,O43681,O75380,Q9GZY8 19 |
| Abnormal exteroceptive sensation 0.451103646632931 2.0343627460519693 0.0419150350868842 1.0 0.2922456982508828 60 Q9NR77,P07602,Q9NZ08,O95831,P39210,P54802,P06280,P07196,P05067,Q00796 10 |
| Pericarditis 0.8392142777933042 2.033729088512833 0.041978917618441 1.0 0.2922456982508828 6 P14174 1 |
| Deep palmar crease 0.6918591029634396 2.0309945523894664 0.0422555472194905 1.0 0.2922456982508828 12 Q9Y487,P98175 2 |
| Abnormal lung lobation 0.6470130449013842 2.029728283841065 0.0423841662541903 1.0 0.2922456982508828 15 O60566,Q9UHX1,Q14739,O00192,Q9UBM7,Q969N2 6 |
| Bowing of the legs 0.4491944634193071 2.029697858432604 0.0423872607318904 1.0 0.2922456982508828 61 Q9NR77,P16278,O00754,Q8WVQ1,Q15056,Q8N0X7,Q96L58,Q9NX62,Q7RTS9,O75718,Q01082,P08236,Q13126,O75431,P51798,Q96HY6,Q9NUQ7,Q9UIG0 18 |
| Slurred speech 0.711179867961172 2.0284520863836195 0.0425141287049446 1.0 0.2926861571731523 10 P16278,Q9Y487,O75787 3 |
| Vascular tortuosity 0.9149438252423036 2.026501831106119 0.0427133852739403 1.0 0.292756786678467 4 P03886,P05067 2 |
| Prominent sternum 0.9145238911826724 2.0249001827053346 0.0428776148532508 1.0 0.2931520226414949 4 Q7RTS9,O95831 2 |
| Decerebrate rigidity 0.9143333890236952 2.024173519494399 0.0429523011847132 1.0 0.2931520226414949 4 P07602,O43681 2 |
| Angiokeratoma 0.937912087912088 2.0240802158345415 0.0429618988819078 1.0 0.2931520226414949 3 P16278,P06280 2 |
| Abnormal circulating dicarboxylic acid concentration 0.4801933633809269 2.020924955157642 0.0432875341580361 1.0 0.2931520226414949 45 P22695,P11166,P55263,P41440,P23786,Q14739,O14678,Q01082,P00390,P48735,Q9NUN5 11 |
| Psychomotor deterioration 0.737486390599112 2.0195280361143597 0.0434323663475075 1.0 0.2932661089782564 9 Q9Y487,P07602 2 |
| Waddling gait 0.5408042119304564 2.0190512660934363 0.0434818913462489 1.0 0.2932661089782564 30 Q8WVQ1,Q4J6C6,Q7RTS9,Q8TD16,P02545,P06753,Q9H9S5,Q13049,P07196 9 |
| Muscle fiber atrophy 0.5796045691013023 2.0183783873301104 0.0435518685199822 1.0 0.2933123666845763 22 P02545,Q99720,P23786 3 |
| Progeroid facial appearance 0.7648510006687621 2.0177091064512505 0.0436215658662462 1.0 0.2933566086547701 8 O75844,O75431,Q03252 3 |
| Abnormal circulating bilirubin concentration 0.5465425456249023 2.014837644020873 0.0439216633222425 1.0 0.2942485092003201 29 P11166,P55263,P23786,Q14739,Q01082,P00390,P41440 7 |
| Hyporeflexia 0.3875309690565162 2.014623148925593 0.0439441500720942 1.0 0.2942485092003201 132 Q13045,Q99720,Q8TD16,Q71SY5,P02545,P06753,P39210,P54802,Q9HC21,Q9NR77,Q7Z406,O75787,O95831,Q96RR1,Q5H8A4,Q13049,P50336,P03886,P07602,Q15046,P00846,O43505,Q7LG56,Q96F07,P11177,Q9H9S5,P41440,Q9NWS8,Q8NAT1,Q5TAQ9,O43681,P23378,P07196 33 |
| Hemihypertrophy 0.8338368580060412 2.012838639472091 0.0441316075126758 1.0 0.2946545691255814 2 P31751 1 |
| Deformed sella turcica 0.7888939699311638 2.0106654693989023 0.0443608036946012 1.0 0.2957576849171351 7 Q7RTS9,O75431 2 |
| Short long bone 0.4892967421987419 2.0100668374763004 0.0444241153587605 1.0 0.2957576849171351 42 O00116,P16278,Q9UHX1,P98175,Q96L58,Q7RTS9,Q9NWH9,Q9Y448,Q96HY6,Q9Y366,Q969N2 11 |
| Hepatic failure 0.4548134197096559 1.999769606377478 0.0455251479775484 1.0 0.3022219466452396 54 P22830,P03886,O15118,P23786,P00846,O43772 6 |
| Abnormal femoral head morphology 0.5792578290797784 1.9978787842814745 0.0457298032562791 1.0 0.3030814922862074 21 P16278,Q8WVQ1,Q96L58,Q7RTS9,O95831,O75431 6 |
| Scotoma 0.6235066810847094 1.9973694196014125 0.0457850672659603 1.0 0.3030814922862074 16 P03886,O60313,O43395,P00846,O75306,Q8NHS3,Q9H6K4,P04439 8 |
| Aplasia hypoplasia of the uterus 0.6047422411110954 1.9940565193907496 0.046145878225877 1.0 0.305035414104766 17 O96028 1 |
| Abnormal circulating sulfur amino acid concentration 0.703666332903943 1.992322881598856 0.0463356426971297 1.0 0.3058547324056277 10 Q9NUN5,P41440,P55263 3 |
| Motor deterioration 0.8285812502559435 1.9905526090012633 0.0465300947682219 1.0 0.3064928111150358 6 O75503 1 |
| Metaphyseal widening 0.5689560817204933 1.9902425899382663 0.0465642187749548 1.0 0.3064928111150358 24 P16278,Q8WVQ1,Q96L58,Q7RTS9,O95831,O75530,Q96HY6 7 |
| Abnormal pupil morphology 0.6730865142979998 1.9893912456857288 0.0466580351699406 1.0 0.3066759397945034 13 Q9NR77 1 |
| Short clavicles 0.7292249896124627 1.9814798020093525 0.0475374922539129 1.0 0.3106929886177903 9 O75844,O75431 2 |
| Adrenal hypoplasia 0.7566055299969816 1.9813021979330308 0.0475573940560318 1.0 0.3106929886177903 8 O60826,O75844 2 |
| Hyperintensity of cerebral white matter on mri 0.5761032589274618 1.9778160307538992 0.0479494643574121 1.0 0.3117205591666832 21 O75503,P10253,P07602,O43681 4 |
| Abnormal bone structure 0.3878844430248081 1.977507881256764 0.0479842505414755 1.0 0.3117205591666832 195 O00116,Q86XL3,Q14108,Q9HC07,Q7RTS9,P02545,Q13126,P54802,Q9Y366,Q9HC21,Q9UBM7,P06280,P16278,O60566,Q8WVQ1,Q96L58,Q9Y487,Q96JJ3,Q15392,O75718,O95831,Q14739,Q96RR1,Q969N2,Q5H8A4,O00754,P07602,O15078,Q15056,Q7LG56,Q9Y448,P08236,O75431,P51798,O75530,O15287,O96028,P48735,P31749,Q15051,P51809,P35606,Q15437,Q96HY6,Q9NUQ7,O75844,Q9UIG0 47 |
| Abnormality of the upper respiratory tract 0.4105860868320822 1.9771095453299772 0.0480292490560243 1.0 0.3117205591666832 110 O15344,Q7RTS9,P02545,P54802,O00192,Q9UBM7,P16278,Q9UHX1,P28070,P15586,Q14203,Q14739,P00813,P29372,O00754,P07602,P08236,P04066,Q68CQ7,Q15165,Q01082,Q96HY6 22 |
| Ulnar claw 0.9244505494505496 1.97298730319271 0.0484970089253655 1.0 0.3122200211831344 3 Q9NR77,P07196 2 |
| Abnormality of epiphysis morphology 0.4372407322536623 1.972089347393312 0.0485994078148876 1.0 0.3122200211831344 65 O00116,P16278,Q15051,Q8WVQ1,O15078,Q96L58,Q9HC07,Q7RTS9,Q9NUQ7,Q14739,O95831,Q9Y448,P08236,P51798,Q96HY6,Q9Y366,Q9UBM7,O96028 18 |
| Abnormal form of the vertebral bodies 0.421138457545958 1.9702054277668084 0.0488148317451506 1.0 0.3122200211831344 94 Q13045,Q7RTS9,Q8N3U4,P54802,Q9UBM7,Q9Y619,P16278,Q9UHX1,Q8WVQ1,Q96L58,P15586,O95831,Q14739,P00813,Q5H8A4,O00754,Q15056,Q8WXW3,P08236,P51798,O96028,P48735,P31749,O15228,P04066,Q9NUQ7,Q96HY6,O60826,Q9UIG0 29 |
| Abnormal lower limb bone morphology 0.3866422280054329 1.9699239287459809 0.0488470895559025 1.0 0.3122200211831344 193 O00116,P98175,Q7RTS9,Q71SY5,P02545,Q8N3R9,Q9Y366,Q9UBM7,O00192,P06280,P16278,Q9UHX1,Q8WVQ1,Q8N0X7,Q96L58,Q9Y487,Q15392,O75787,O95831,O75718,Q14739,P00813,O14936,O00754,P55011,O95155,P07602,O15078,Q8WXW3,O43505,Q03252,Q9Y448,Q9H9S5,P08236,O75431,P51798,O75530,O96028,P11274,Q9UQE7,P04066,Q9NX62,Q13555,Q9NWH9,Q8NAT1,Q93009,Q96HY6,O75844 48 |
| Generalized hyperkeratosis 0.8234243822738831 1.9695460448617437 0.0488904205279565 1.0 0.3122200211831344 6 O75844,P04066,Q15437 3 |
| Flared iliac wing 0.8234100981823868 1.9694877985513195 0.0488971023515638 1.0 0.3122200211831344 6 P16278,O95831 2 |
| Bilateral tonic clonic seizure with focal onset 0.8982443495660541 1.9626264287675323 0.0496895974800422 1.0 0.3158790143498715 4 P22466 1 |
| Short middle phalanx of finger 0.8217522658610235 1.960508798847386 0.0499363505717043 1.0 0.3165814749068348 2 Q9UHX1 1 |
| Arthritis 0.4538785332584523 1.9582434170430176 0.0502014567660313 1.0 0.3165825930330358 50 Q14108,Q8WVQ1,P28070,Q7Z406,Q9NZ08,P14174,P02545,Q14739,Q9Y448,P51798,Q96HY6,O00192,Q9NUQ7,O75844,P06280 15 |
| Abnormality of the spleen 0.3820783178835641 1.957378438535837 0.0503029915643822 1.0 0.3165825930330358 133 Q14108,O15118,P14174,P02545,P10253,P54802,O00192,P16278,P11166,P28070,Q15392,P15586,Q14739,P00813,P10619,O14936,O00754,O95155,P07602,O15078,P08236,O96028,P11274,P04066,P61916,Q9NZ08,Q15437,Q96HY6 28 |
| Median cleft palate 0.8209283163965936 1.956932694432007 0.0503553820364595 1.0 0.3165825930330358 2 Q14739 1 |
| Pathologic fracture 0.5984641237386621 1.9567861016796433 0.0503726217844613 1.0 0.3165825930330358 17 Q14108,Q13126 2 |
| Abnormal vertebral morphology 0.397616373670936 1.955360402695619 0.050540546388015 1.0 0.3165825930330358 121 Q13045,Q14108,Q8IWS0,Q7RTS9,Q8N3U4,P54802,Q9UBM7,Q9Y619,P16278,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,P15586,O75718,O95831,Q10713,Q14739,P00813,Q5H8A4,P10619,Q96L73,O00754,Q15056,Q8WXW3,P34059,Q9H9S5,P08236,P51798,O96028,P48735,P31749,O15228,P04066,Q9NUQ7,Q96HY6,O60826,Q9UIG0 38 |
| Hyperhomocystinemia 0.8587664261683288 1.9541638973097384 0.0506818374020596 1.0 0.3165825930330358 5 P41440,Q9NUN5 2 |
| Pleural effusion 0.6763793548222875 1.952978288366258 0.0508221679368721 1.0 0.3165825930330358 12 Q9NZ08,P52732,P14174 3 |
| Aplasia hypoplasia of the femur 0.6155760257683066 1.9519927960538288 0.0509390599087233 1.0 0.3168859590305724 16 O00116,Q9UHX1,Q96L58,O95831,O75431,Q96HY6 6 |
| Osteoarthritis 0.6760298460417006 1.951209549787014 0.0510321234327124 1.0 0.3170404780639235 12 Q14108,Q8WVQ1,P02545,P51798,Q96HY6,O75844 6 |
| Abnormality of the musculature of the upper limbs 0.4241240511234068 1.950100756080523 0.0511641111649494 1.0 0.3172583229394285 76 Q9NR77,O60313,P07602,Q9Y487,Q8TD16,Q7LG56,Q14203,P46783,P02545,Q14331,P06753,Q9H9S5,Q96RR1,Q13049,P07196,P50336 16 |
| Aplasia hypoplasia involving the skeletal musculature 0.6851127649703896 1.9475854883099737 0.0514645815430461 1.0 0.3176739720193887 11 Q9NR77,Q9Y487,O43505,P06753,Q9H9S5 5 |
| Abnormality of the calf musculature 0.576272451123171 1.947490992301378 0.0514758986293522 1.0 0.3176739720193887 19 Q9NR77,Q14331,P02545,Q9H9S5,Q13049 5 |
| Distal lower limb muscle weakness 0.576079739644897 1.9462861493990145 0.0516203764099763 1.0 0.317948786796964 19 Q9NR77,P00846,P02545,P07196,Q00796 5 |
| Abnormal iliac wing morphology 0.6314818000683061 1.9440517357893663 0.051889212597123 1.0 0.3181123627161359 15 P16278,Q7RTS9,O75530,O95831 4 |
| Abnormality of bone mineral density 0.3674137019810518 1.9416514107213976 0.0521793146152484 1.0 0.3190922743278276 152 Q14108,Q9HC07,P02545,Q13126,P54802,Q9Y366,P06280,P16278,Q8WVQ1,Q96L58,Q9Y487,Q15392,O75718,O95831,Q14739,Q96RR1,Q969N2,O00754,P07602,O15078,Q15056,Q7LG56,Q9Y448,O75431,P51798,O75530,O96028,Q15051,P51809,Q96HY6,Q9NUQ7,O75844 32 |
| Young adult onset 0.6838112019122063 1.941143039919152 0.0522409297904531 1.0 0.3190922743278276 11 P02545,P07602,O15118 3 |
| Head tremor 0.6307308137647204 1.9398899755588372 0.0523930626155282 1.0 0.3195151731946977 15 P20700,Q99720,P07196 3 |
| Abnormality of lower limb epiphysis morphology 0.5770094150676917 1.9386569185504687 0.0525431278068693 1.0 0.3199909494098208 18 Q96L58,Q7RTS9,Q8WVQ1,O95831 4 |
| Severe short stature 0.5472587409302481 1.9381182431923645 0.052608798224468 1.0 0.3199909494098208 27 P16278,Q96L58,Q7RTS9,Q15392,P52732,Q96HY6,P10619 7 |
| Abnormality of the achilles tendon 0.6469576940394088 1.937431345260341 0.0526926381083494 1.0 0.32008194678366 14 O60313,Q8N2K0,P50402,Q8WXH0,Q8TD16,P02545,Q9H9S5,Q92734 8 |
| Titubation 0.7191697986074854 1.9349691525940216 0.0529940811854827 1.0 0.3207457755966617 9 P20700,Q99720 2 |
| Decreased adenosylcobalamin 0.913942516565584 1.932947987861932 0.0532426054444479 1.0 0.3217404258782178 3 Q9NUN5 1 |
| Hyperventilation 0.7178500392507724 1.92884834208043 0.0537496924261793 1.0 0.3233774411110041 9 P03886,P11166,P00846 3 |
| Morphological abnormality of the pyramidal tract 0.5561039064380053 1.9273234478818344 0.0539393331984077 1.0 0.3233774411110041 25 Q13045,P11166,O00400,Q15056,O75569,P35637,P00846,Q14203,O95831,P11177,O75298,Q9Y619,Q9UIG0 13 |
| Pace of progression 0.3771280946103084 1.9272834640787329 0.0539443132178318 1.0 0.3233774411110041 176 Q99720,P07942,P55263,Q14108,P02545,O75298,Q13126,P39210,P54802,O14773,Q9NR77,Q7Z406,O75787,P15586,O95831,O75251,Q14203,Q8NHS3,Q96RR1,Q13049,P20700,Q8IV08,Q7LG56,Q03252,O43707,Q8N1F7,P41440,O00584,O75569,P35606,P07196,Q9GZY8 32 |
| Nasogastric tube feeding in infancy 0.7169904824424868 1.924859860726482 0.054246892697733 1.0 0.3233774411110041 9 Q969N2,Q9UHX1,P07602 3 |
| Goiter 0.6804775190272929 1.924622904108581 0.0542765518583647 1.0 0.3233774411110041 11 Q96RR1,P48735,Q7LG56,Q15437 4 |
| Vegetative state 0.9111338431219884 1.9222232295769597 0.0545776750764392 1.0 0.3233774411110041 3 P07602 1 |
| Progressive peripheral neuropathy 0.9111338431219884 1.9222232295769597 0.0545776750764392 1.0 0.3233774411110041 3 P07602 1 |
| Wormian bones 0.5739470487507795 1.9196706447587095 0.0548995144524835 1.0 0.3233774411110041 18 P02545,Q9Y487,O75844,O95831 4 |
| Increased serum pyruvate 0.490178290638957 1.918180904508562 0.0550880766449717 1.0 0.3233774411110041 38 P03886,Q70HW3,O43676,O75251,O95831,Q9BWD1,O75380,Q96RR1,Q96CU9 9 |
| Childhood onset 0.4843549437274762 1.9163664965890344 0.055318462209142 1.0 0.3233774411110041 40 P22830,Q9NR77,Q8N0X7,Q14331,O75431,Q14566 6 |
| Neonatal breathing dysregulation 0.8115902224663514 1.9163323708285929 0.0553228030306107 1.0 0.3233774411110041 2 O15078 1 |
| Widely patent fontanelles and sutures 0.8859667133067062 1.915429778052536 0.0554377165771233 1.0 0.3236420463993622 4 O75844,P98175 2 |
| Spondyloepimetaphyseal dysplasia 0.7662562335117774 1.9138715214825857 0.0556365740305602 1.0 0.3240821808654737 7 Q96L58,Q7RTS9,O95831 3 |
| Sensory axonal neuropathy 0.6260203325756779 1.9137462306966135 0.0556525888380994 1.0 0.3240821808654737 15 Q8IV08,O95831 2 |
| Abnormal diaphysis morphology 0.420366819471683 1.91142910016641 0.0559494600193981 1.0 0.324485114405476 80 Q9HC07,Q7RTS9,Q13126,Q9Y366,Q9NR77,P16278,Q8WVQ1,Q8N0X7,Q96L58,Q9Y487,O75718,Q14739,O00754,Q15056,O15078,P08236,O75431,P51798,P11274,Q9NX62,Q01082,Q96HY6,Q9NUQ7,Q9UIG0 24 |
| Enlarged thorax 0.5897622353815529 1.9048946275188656 0.05679376976384 1.0 0.3270392169672428 17 P04066,Q7RTS9,Q14739,P02545,O75844 5 |
| Abnormal platelet volume 0.7388300694934354 1.9023595475049135 0.0571241657142711 1.0 0.3277234544126148 8 P35579,P12814,Q14739 3 |
| Abnormality of facial adipose tissue 0.8820793880409618 1.9004459927662036 0.0573746160675263 1.0 0.3287544277013501 4 O75844,Q03252 2 |
| Abnormality of the biliary system 0.3821323220604519 1.8979037794193887 0.0577087584183713 1.0 0.3295023624038035 130 P22830,P55263,Q14108,O15118,P14174,Q71SY5,P02545,P39210,O00192,Q9UBM7,Q16625,A2RRP1,P11166,P49748,O75787,Q14739,Q6PGP7,O14936,P07602,O15078,Q15056,O96028,P04066,P61916,Q15437,Q01082,O43681,Q9NUN5,Q9UIG0 29 |
| Abnormal morphology of the musculature of the neck 0.6060434494513731 1.8971749395079291 0.057804853198965 1.0 0.3295023624038035 16 O75569,Q99720,Q96L58 3 |
| Abnormality of corneal size 0.455207158904098 1.8967867066553936 0.0578560944984325 1.0 0.3295023624038035 48 Q13045,Q9UQE7,Q15555,Q8NCH0,Q15056,O15078,Q96L58,O43505,P52732,Q71SY5,Q8NAT1,Q9H9S5,O96028,Q96EK5,Q9UIG0 15 |
| Renal dysplasia 0.6050897454118984 1.8916742217938145 0.0585344000004839 1.0 0.3313856967661277 16 O43505,O75306,Q9H9S5,Q969N2,Q9NWS8,O14936 6 |
| Tachycardia 0.545780948200356 1.891550444782305 0.058550903817554 1.0 0.3313856967661277 26 P23786,O43772,P02545,P42892,P09493,Q8NFF5,P50336 7 |
| Urinary glycosaminoglycan excretion 0.7361854224814919 1.890561921081003 0.0586828474267306 1.0 0.3313856967661277 8 P16278,P04066,P15586,P34059,P08236,P54802 6 |
| Abnormal erythrocyte sedimentation rate 0.7361741508559755 1.890511610284124 0.0586895692787869 1.0 0.3313856967661277 8 P14174 1 |
| Telangiectasia 0.4684231263083952 1.8870892828683845 0.0591483179332834 1.0 0.3328407135511221 44 P03886,O95155,Q96JJ3,Q8IZA0,P00846,O75306,Q15437,Q14739,P02545,P10619,P06280 11 |
| Sea blue histiocytosis 0.9019230769230772 1.8869865670834869 0.0591621324280668 1.0 0.3328407135511221 3 P16278,O15118 2 |
| Achilles tendon contracture 0.6630245746681022 1.8851704355719523 0.0594068309467936 1.0 0.3329248030940087 12 O60313,Q8N2K0,P50402,Q8WXH0,Q8TD16,P02545,Q9H9S5 7 |
| Sensory ataxia 0.8412444811669102 1.8847496096777188 0.0594636510798423 1.0 0.3329248030940087 5 Q9NR77,P54802 2 |
| Shield chest 0.802457886947761 1.883700417862031 0.0596055098888947 1.0 0.3331793242413279 6 Q7RTS9 1 |
| Redundant neck skin 0.8023734466339962 1.8833532863081697 0.0596525065136184 1.0 0.3331793242413279 6 Q9Y487 1 |
| Thickened ribs 0.8774388568287872 1.8825339268525376 0.0597635579282678 1.0 0.3333988639767833 4 P16278,P15586,P54802 3 |
| Pseudoarthrosis 0.9005494505494509 1.881723091189893 0.0598736228349907 1.0 0.3336123804726643 3 P02545,O75844 2 |
| Abnormality of pulmonary circulation 0.5155059427316259 1.8806570679909296 0.0600185833038822 1.0 0.3338128590952844 31 P03886,P20674,Q14108,Q8IZA0,Q9NZ08,P02545,Q71SY5,O14678,P25705,P51798,O75844,P00403 12 |
| Duplication of the distal phalanx of hand 0.8033507278220255 1.8804022953595565 0.0600532709713057 1.0 0.3338128590952844 2 Q8WVQ1 1 |
| Metaphyseal dysplasia 0.6518070217359038 1.8789143768830807 0.0602561854447794 1.0 0.3343431198562384 13 Q7RTS9 1 |
| Proximal muscle weakness in lower limbs 0.5606016167408693 1.878648078258563 0.0602925617472622 1.0 0.3343431198562384 21 P02545,Q96RR1,Q13049,P07196,Q00796 5 |
| Broad foot 0.6510702736325769 1.8750676226918552 0.0607834210940139 1.0 0.3356453419393827 13 Q7RTS9,O95831 2 |
| Lissencephaly 0.4325000743038351 1.8748286029738663 0.0608163068459135 1.0 0.3356453419393827 62 P20700,P07942,Q86XL3,Q9NWS8,P23786,Q9Y487,P35606,Q15392,O43505,Q8NAT1,P11177,Q6ZXV5,Q9H9S5,Q9BSJ2,Q9HC21,Q96EK5,Q16625,O14936 18 |
| Abnormality of the glabella 0.7996056801047066 1.8719689883499593 0.0612108940346087 1.0 0.3370655319539358 6 O96028,Q01082 2 |
| Opsoclonus 0.8000549299642947 1.8660031082536988 0.0620409306271778 1.0 0.3390136080763264 2 P51798 1 |
| Short stepped shuffling gait 0.8000549299642942 1.8660031082536972 0.062040930627178 1.0 0.3390136080763264 2 Q14203 1 |
| Spontaneous recurrent epistaxis 0.8000549299642923 1.8660031082536892 0.0620409306271791 1.0 0.3390136080763264 2 P35579 1 |
| Motor neuron atrophy 0.5556903473437607 1.8638976201511408 0.0623360830090062 1.0 0.3390136080763264 22 Q99720,Q15165 2 |
| Hypoplasia of the musculature 0.7969619314712146 1.8610838040127315 0.0627323429976915 1.0 0.3390136080763264 6 Q9NR77 1 |
| Epiretinal membrane 0.7986816808569066 1.859998948960069 0.0628856746636072 1.0 0.3390136080763264 2 P04439 1 |
| Retinal perforation 0.7986816808569066 1.859998948960069 0.0628856746636072 1.0 0.3390136080763264 2 P04439 1 |
| Ovarian papillary adenocarcinoma 0.7986816808569066 1.859998948960069 0.0628856746636072 1.0 0.3390136080763264 2 P31749 1 |
| Dysgerminoma 0.7986816808569066 1.859998948960069 0.0628856746636072 1.0 0.3390136080763264 2 P31749 1 |
| Progressive visual field defects 0.7986816808569066 1.859998948960069 0.0628856746636072 1.0 0.3390136080763264 2 O43395 1 |
| Epigastric pain 0.798681680856905 1.8599989489600612 0.0628856746636083 1.0 0.3390136080763264 2 Q9NWH9 1 |
| Splanchnic vein thrombosis 0.798681680856905 1.8599989489600612 0.0628856746636083 1.0 0.3390136080763264 2 Q9NWH9 1 |
| Retinal fold 0.7986816808569049 1.8599989489600612 0.0628856746636083 1.0 0.3390136080763264 2 P52732 1 |
| Portal vein thrombosis 0.798681680856905 1.8599989489600612 0.0628856746636083 1.0 0.3390136080763264 2 Q9NWH9 1 |
| Vitreoretinopathy 0.7986816808569032 1.8599989489600532 0.0628856746636095 1.0 0.3390136080763264 2 O15484 1 |
| Retinal neovascularization 0.7986816808569032 1.8599989489600532 0.0628856746636095 1.0 0.3390136080763264 2 O15484 1 |
| Abnormal astrocyte morphology 0.581892438818286 1.8577362536795443 0.0632064775184906 1.0 0.3395612728652323 17 P20585,P00846,O95831 3 |
| Abnormality of the musculature of the lower limbs 0.5240361794203922 1.853980040694345 0.0637420155441825 1.0 0.3419494079872846 29 Q9NR77,P00846,Q14331,P02545,Q9H9S5,Q13049,P07196 7 |
| Epiphyseal dysplasia 0.7522647750216063 1.85358762931968 0.0637981787658652 1.0 0.3419494079872846 7 Q96L58,Q9HC07,Q7RTS9 3 |
| Prominent ear helix 0.8912087912087916 1.8458739346087265 0.0649105121434749 1.0 0.3467116665870439 3 P02545,O75844 2 |
| Flaring of rib cage 0.8672053255231869 1.842938769902167 0.0653379508759157 1.0 0.3478296945668105 4 P16278,Q7RTS9 2 |
| Abnormal circulating carbohydrate concentration 0.4629111193832218 1.8386497258194316 0.065966722371868 1.0 0.3499432910549943 44 P03886,Q70HW3,O43676,O75251,O95831,Q9BWD1,O75380,Q96RR1,Q96CU9,Q00796 10 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.8892857142857147 1.8384809576589185 0.0659915653050742 1.0 0.3499432910549943 3 O75503,Q9NWW5 2 |
| Oligosacchariduria 0.8290670196678206 1.8362559140504036 0.0663198166290701 1.0 0.3510104813572824 5 P16278,P04066,P10253 3 |
| Talipes calcaneovalgus 0.790139381522729 1.832944027467739 0.0668108953647621 1.0 0.3528070804091474 6 Q9NR77,P07196 2 |
| Hypoplastic ilia 0.6696962662863944 1.8272967674361391 0.0676551610102857 1.0 0.3561137905658193 10 Q96L58,Q7RTS9,O75530 3 |
| Abnormal circulating acetylcarnitine concentration 0.7219253588046233 1.8267201192305256 0.0677418616392862 1.0 0.3561137905658193 8 Q9NUN5,O43772 2 |
| Fever 0.409515981320529 1.8266494824128616 0.0677524883580984 1.0 0.3561137905658193 93 Q9NR77,P03886,P07602,P23786,P28070,Q9HC07,P00846,Q9NZ08,P14174,O43707,Q01082,Q14739,P10253,Q8N1F7,P00813,P11274,P06280 17 |
| Abnormal ossification involving the femoral head and neck 0.826268908781527 1.8250848071584096 0.0679882324938911 1.0 0.3561908865829902 5 Q96L58,Q7RTS9,Q14739 3 |
| Abnormality of temperature regulation 0.3947042276839199 1.8196561055963816 0.0688113917745878 1.0 0.3596923932244203 114 Q9HC07,O43772,P14174,P10253,P06280,Q9NR77,P49748,P28070,Q14739,P00813,O14936,P03886,P20700,P07602,P23786,P00846,O43707,Q8N1F7,P11274,Q9NZ08,Q01082 21 |
| Peripheral axonal degeneration 0.4121670316270953 1.8174263403264097 0.069151857559023 1.0 0.3610659349177306 79 P02545,P39210,Q9HC21,O60313,Q9BQT8,O95831,Q9BPX6,Q96RR1,Q6DKK2,P00403,P03886,P07602,Q15046,Q8IV08,P00846,Q7LG56,Q9Y4W6,P41440,P17480,P07196 20 |
| Migraine 0.5188353570624489 1.8164738772010347 0.069297711581898 1.0 0.3611957282981927 29 P03886,P11166,O60313,Q9Y6N5,Q9NZ08,Q7LG56,Q96RR1,P05067 8 |
| Head titubation 0.7433230479129251 1.8148833518629648 0.0695418374916454 1.0 0.3611957282981927 7 P20700,Q99720 2 |
| Corneal opacity 0.4206273068449862 1.8147304121827017 0.0695653490051393 1.0 0.3611957282981927 66 P02545,Q9Y5Z9,Q9UBM7,P06280,Q16625,P16278,O60566,P10619,O00754,Q15056,O15078,O43505,P52732,Q9H9S5,P08236,O96028,P04066,O75569,Q8NAT1,O75844,Q9UIG0 21 |
| Abnormality of circulating leptin level 0.8585464114031136 1.8093368985932097 0.0703986798653089 1.0 0.3644562531238495 4 P02545,O75844 2 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6921968559421867 1.8091442093864707 0.0704286023897604 1.0 0.3644562531238495 9 P03886,P05067 2 |
| Neurofibrillary tangles 0.857653201428944 1.8058656436373957 0.0709393287596733 1.0 0.3657021353467785 4 P05067,O15118,P61916 3 |
| Abnormal autonomic nervous system physiology 0.5054734813241722 1.8057202116678177 0.0709620539272648 1.0 0.3657021353467785 31 P07602,P42892,O43681,P41440,P06280,P50336 6 |
| Gingival fibromatosis 0.8806045449483266 1.805056671367148 0.0710658143451963 1.0 0.3657021353467785 3 Q15392 1 |
| Supraventricular tachycardia 0.8799217839307361 1.8024244230426665 0.0714786555195696 1.0 0.3658164231271368 3 P02545 1 |
| Mucosal telangiectasiae 0.6553934047643211 1.7994525101817591 0.071947129648024 1.0 0.3678089235141561 11 Q8IZA0,P10619,Q15437 3 |
| Skin rash 0.5455052620082718 1.7974129968201693 0.0722700789529842 1.0 0.3679776370701645 22 Q9NUN5,P14174 2 |
| Enterocolitis 0.7843998901400696 1.7974033933090938 0.0722716024362055 1.0 0.3679776370701645 2 P49748 1 |
| Wide cranial sutures 0.7392684378595563 1.7972883947308922 0.0722898476407722 1.0 0.3679776370701645 7 P02545,O75844,P98175 3 |
| Abnormality of the temporomandibular joint 0.8553255747064683 1.7968154816640045 0.0723649177460896 1.0 0.3679776370701645 4 O75844 1 |
| Mild short stature 0.8553075337525345 1.7967453111274392 0.0723760620361804 1.0 0.3679776370701645 4 Q13555,Q8WVQ1 2 |
| Delayed fine motor development 0.6628926686314238 1.7939248093498097 0.0728251709726237 1.0 0.369385811880024 10 Q5KU26,Q01082,O75175,P51798 4 |
| Premature graying of hair 0.6888675198708205 1.7935094708547992 0.0728914976315864 1.0 0.369385811880024 9 Q13126 1 |
| Thoracic kyphosis 0.5710872206465033 1.7926415130817013 0.0730302640285434 1.0 0.3694426527596677 17 O00754,Q7RTS9,Q9UHX1,O95831 4 |
| Vacuolated lymphocytes 0.8771978021978026 1.7919176949109148 0.0731461510567414 1.0 0.3694675695224758 3 P16278,P04066 2 |
| Anterior rib cupping 0.8171833880848768 1.7887408625194283 0.0736565588432505 1.0 0.369921053060386 5 O95831 1 |
| Neck flexor weakness 0.7794434681385243 1.788688808135538 0.0736649463833458 1.0 0.369921053060386 6 Q99720 1 |
| Progressive visual loss 0.5204760435673164 1.7884477723957166 0.0737037947334953 1.0 0.369921053060386 28 P03886,Q15051,O60313,Q15046,O15078,P50897,P00846,O75306,O14773,Q9NWW5,O75503 11 |
| Abdominal distention 0.5354942624392471 1.788387224122963 0.0737135560864896 1.0 0.369921053060386 25 P07602,Q7RTS9,O43681,Q96HY6,Q9Y366 5 |
| Abnormal sternum morphology 0.3862688381180965 1.7873985715695708 0.0738730923395956 1.0 0.3702512377935252 120 P98175,Q7RTS9,Q71SY5,Q8N201,P02545,P06753,Q9Y366,P16278,O60566,Q9UHX1,Q8NCH0,Q96L58,Q9Y487,Q96JJ3,O75718,O95831,Q14739,Q969N2,O00754,P55011,Q15056,P08236,O75431,O96028,P17480,P31749,P55795,Q9UQE7,Q15555,Q9NWH9,Q15437,Q9UIG0 32 |
| Abnormal lymphocyte morphology 0.4764286558331542 1.7847369618878717 0.0743039925885469 1.0 0.3703274472751567 37 P16278,Q13432,O00754,Q13043,P04066,P26038,P28070,O75787,Q03252,P42224,Q9Y448,O95470,P00813,Q6PGP7 14 |
| Decreased number of peripheral myelinated nerve fibers 0.5690980438696012 1.7806151335166258 0.0749753457817552 1.0 0.3719870164039782 17 Q9NR77,O15269,Q7LG56,P02545,Q92734,P39210,P07196 7 |
| Abnormality of the carpal bones 0.5690246932684822 1.7801714115299816 0.0750479125277567 1.0 0.3719870164039782 17 Q96L58,Q7RTS9,Q8WVQ1 3 |
| Increased adipose tissue 0.8507397345732509 1.778966728770112 0.0752452168425741 1.0 0.3719870164039782 4 P02545,O75431 2 |
| Abnormal periventricular white matter morphology 0.4679695126667813 1.7785646731836156 0.0753111601441887 1.0 0.3719870164039782 40 Q9UHX1,P07602,Q93009,P11177,Q9H9S5,O43681,O75503,O96028 8 |
| Peroneal muscle atrophy 0.849940650088018 1.7758541162080532 0.0757569653554752 1.0 0.3719870164039782 4 Q9NR77 1 |
| Abnormality of the cerebrospinal fluid 0.3608532117281473 1.7749112274577947 0.0759125461557761 1.0 0.3719870164039782 161 P07942,P39210,O00192,Q9HC21,Q9UBM7,Q7KZN9,Q16625,Q9NR77,P11166,O60566,Q96L58,O43676,Q15392,O95831,O75251,P00403,P03886,P20700,O00754,P55011,P07602,Q15046,O15078,P23786,Q8WXW3,P00846,O43505,Q7LG56,Q03252,Q9H9S5,P08236,P51798,O15287,O96028,Q96CU9,P31749,Q9NWS8,O75306,Q8NAT1,Q01082,P15291,Q93009,O43681,O75380,O60826 45 |
| Genu valgum 0.4644629990070856 1.7724897479367792 0.0763132956247023 1.0 0.3719870164039782 41 Q9NR77,P16278,O00754,Q15056,Q8N0X7,O95714,Q96L58,Q9NX62,Q7RTS9,Q9UIG0,Q01082,P08236,O75431,P51798,Q9Y619,Q96L73 16 |
| Bifid scrotum 0.7754508461623626 1.7721262927113852 0.0763735953116848 1.0 0.3719870164039782 6 Q01082,Q96EK5,Q9UBM7 3 |
| Cold induced muscle cramps 0.8716683720724371 1.770565936178443 0.0766329106792897 1.0 0.3719870164039782 3 Q9NR77 1 |
| Multiple glomerular cysts 0.8715242051294257 1.7700088132068157 0.0767256725770435 1.0 0.3719870164039782 3 P03886 1 |
| Leber optic atrophy 0.8715242051294257 1.7700088132068157 0.0767256725770435 1.0 0.3719870164039782 3 P03886 1 |
| Low plasma citrulline 0.8715242051294257 1.7700088132068157 0.0767256725770435 1.0 0.3719870164039782 3 P03886 1 |
| Retinal arterial tortuosity 0.8715242051294257 1.7700088132068157 0.0767256725770435 1.0 0.3719870164039782 3 P03886 1 |
| Diminished ability to concentrate 0.8119402998730598 1.7677189332896035 0.0771079031683719 1.0 0.3726968647911737 5 Q96RR1,Q7RTS9 2 |
| Type ii lissencephaly 0.811869932908751 1.7674365630809843 0.0771551441661686 1.0 0.3726968647911737 5 P07942,Q9H9S5,O43505 3 |
| Deviation of the 2nd finger 0.7742076853314839 1.7669646602024207 0.0772341469321928 1.0 0.3726968647911737 6 Q71SY5,Q9Y448,Q8WVQ1 3 |
| Ascending tubular aorta aneurysm 0.8112699215123649 1.7650285703132016 0.0775589641615273 1.0 0.3731590518359304 5 P02545,O75844 2 |
| Abnormal peripheral action potential amplitude 0.6568765314473521 1.7643299205433665 0.0776764492998016 1.0 0.3731590518359304 10 O15269,P39210,Q00796 3 |
| Decreased adipose tissue 0.5990967047170231 1.7630385880189663 0.0778939816657611 1.0 0.3731590518359304 15 O75844,O75431,Q03252 3 |
| Elevated pulmonary artery pressure 0.5317256752170394 1.7627956941624543 0.0779349539061127 1.0 0.3731590518359304 25 P03886,Q14108,Q8IZA0,P02545,Q71SY5,O14678,P25705,P51798,O75844,P00403 10 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3982658544534148 1.7625741820262262 0.077972334696081 1.0 0.3731590518359304 104 O00116,Q7RTS9,P02545,Q8N3R9,Q9Y366,Q9UBM7,Q9UHX1,Q8WVQ1,Q8N0X7,Q96L58,O95831,P00813,P55011,O95155,Q9Y448,O75431,O96028,Q9UQE7,Q9NX62,Q13555,Q9NWH9,Q93009,Q96HY6 23 |
| Central scotoma 0.6294503373929322 1.76155686143305 0.0781441979056603 1.0 0.3735967980119376 13 P03886,O60313,P00846,O75306,Q8NHS3,Q9H6K4 6 |
| Abnormality of krebs cycle metabolism 0.7727748242508087 1.761012669776999 0.0782362586067786 1.0 0.3736525115577598 6 P03886 1 |
| Episodic respiratory distress 0.8457308459114927 1.759444096529512 0.0785021076411351 1.0 0.3745372630475926 4 P03886 1 |
| Weakness of muscles of respiration 0.4752684159711818 1.756247523576704 0.079046153288476 1.0 0.3760375065581236 36 Q7RTS9,Q8TD16,O95831,P02545,P06753,P10253,P50336 7 |
| Abnormal vitamin b12 level 0.7062192161968621 1.7559712110660526 0.0790933243739564 1.0 0.3760375065581236 8 P41440,Q9NUN5 2 |
| Postnatal growth retardation 0.4149610170211625 1.7543635854758923 0.0793682267818014 1.0 0.3767355974004406 66 P11166,A2RRP1,O60566,Q9UQE7,Q96L58,Q9Y487,Q7RTS9,P02545,P08236,O75431,O96028,O60826,O14936 13 |
| Avascular necrosis 0.5361124414903244 1.7530118995443982 0.0795999645416034 1.0 0.3774500359437053 23 O00754,Q14108,Q8IWS0,O75844,Q9NZ08,P02545,P51798,Q9NUQ7,Q9Y619 9 |
| Cutaneous photosensitivity 0.530116405625069 1.7518505708674257 0.0797995058324296 1.0 0.3776255637508153 25 P22830,Q9UBM7,Q14108 3 |
| Decreased absent ankle reflexes 0.5807036825313062 1.7500387788501777 0.0801116224842413 1.0 0.3783320220368591 16 O60313,O75787,Q7LG56,Q96RR1,P07196 5 |
| Peripheral axonal neuropathy 0.4174864719489959 1.7488380956335112 0.0803190096410755 1.0 0.3789263327939877 64 P03886,O60313,P07602,Q8IV08,Q96RR1,Q15046,P00846,Q7LG56,O95831,Q9Y4W6,P39210,Q5TAQ9,Q9BPX6,Q9HC21,P07196,P00403 16 |
| Abnormal large intestine physiology 0.5349498701012252 1.7452820393306083 0.0809357867560238 1.0 0.3814488854515648 23 P20700,P07602,O75298,O43681,P11274,P06280 6 |
| Metaphyseal cupping 0.864701055426286 1.743616989793677 0.0812258987349916 1.0 0.3822862212625929 3 O95831 1 |
| Barrel shaped chest 0.8053528238654064 1.7412577826235698 0.081638402772582 1.0 0.3833602896845655 5 Q7RTS9,P04066 2 |
| Palmar telangiectasia 0.7714913485306214 1.7405993606724917 0.0817538297993123 1.0 0.3833602896845655 2 Q14739 1 |
| Aplasia hypoplasia involving the femoral head and neck 0.6513851315932278 1.7372477280771563 0.0823434537111267 1.0 0.3853474616269948 10 Q96L58,Q96HY6,O75431,O95831 4 |
| Eeg with frontal epileptiform discharges 0.7703927492447114 1.7357555675469387 0.082607063573703 1.0 0.3854302922597431 2 P42356 1 |
| Abnormal atrioventricular conduction 0.6239537175001129 1.7325098439532924 0.0831828259298192 1.0 0.3877137332957575 13 P02545,O43772,P49748,P06280 4 |
| Abnormal ilium morphology 0.5352691451737907 1.730197447619105 0.0835950042241417 1.0 0.388155841075173 22 P16278,Q7RTS9,O75530,O95831 4 |
| Gray matter heterotopia 0.4953847580808364 1.729884160320166 0.0836509738261084 1.0 0.388155841075173 31 P07942,Q86XL3,P35606,O43505,P11177,Q6ZXV5,Q9H9S5,Q9NXR1,Q9BSJ2,Q9UBM7,Q9UEY8 11 |
| Abnormality of subcutaneous fat tissue 0.5771818230997263 1.7294318176388763 0.083731839572041 1.0 0.388155841075173 16 Q9Y487,O75844,O75431 3 |
| Cardiac conduction abnormality 0.4827866183284305 1.729169024516485 0.0837788484179897 1.0 0.388155841075173 33 P03886,P49748,P23786,P00846,O43772,Q7LG56,P02545,P06280 8 |
| Occipital encephalocele 0.7648475652928111 1.7280316059401868 0.0839825580885451 1.0 0.3887120990413041 6 Q6ZXV5,P07942,Q9H9S5,O43505 4 |
| Neoplasm of the gallbladder 0.8373186714068463 1.7265943645050008 0.084240538750627 1.0 0.388928999413115 4 P07602 1 |
| Biliary tract neoplasm 0.8373186714068463 1.7265943645050008 0.084240538750627 1.0 0.388928999413115 4 P07602 1 |
| Anophthalmia 0.6078325038298813 1.7255603772470949 0.0844265328449558 1.0 0.388928999413115 14 O15078,O75569,O43505,P52732,Q96N67,Q9H9S5 6 |
| Abnormality of long bone morphology 0.3704908461527414 1.7227544701649449 0.0849329354574468 1.0 0.3890306297193693 192 O00116,P98175,Q9HC07,Q7RTS9,Q71SY5,P02545,Q13126,Q8N3R9,Q9Y366,Q9UBM7,Q9NR77,P16278,Q9UHX1,Q8WVQ1,Q8N0X7,Q96L58,Q9Y487,O75718,O95831,Q14739,Q13868,P00813,Q969N2,O14936,O00754,P55011,Q15056,O15078,Q9Y448,P08236,O75431,O75530,O96028,P48735,P11274,Q15051,Q9NX62,Q9NWH9,Q01082,Q96HY6,O75844 41 |
| Hyporeflexia of upper limbs 0.8591626673190228 1.7221604538893516 0.0850404563890285 1.0 0.3890306297193693 3 Q9NR77 1 |
| Upper airway obstruction 0.8361068477035749 1.721855863646682 0.0850956319440956 1.0 0.3890306297193693 4 P02545,O75844 2 |
| Stenosis of the external auditory canal 0.7218733508637336 1.7214972053461328 0.0851606388649779 1.0 0.3890306297193693 7 O96028 1 |
| Hypoplasia of the brainstem 0.4879678126122292 1.7199824028986055 0.085435640325836 1.0 0.3890306297193693 32 P07942,Q9HD42,O43505,Q10713,P11177,Q6ZXV5,Q9H9S5,Q9NXR1,Q96EK5,Q9Y3C6,O14936 11 |
| Narrow nasal ridge 0.7213233417662942 1.7190929327324398 0.0855974514545407 1.0 0.3890306297193693 7 O75844,O75431 2 |
| Hallucinations 0.4493960056058496 1.7190793931789317 0.0855999164632008 1.0 0.3890306297193693 44 O00754,P07602,Q8N0X7,P50897,O96008,O43681,Q9NWW5,O75503,Q6DKK2,P05067,P50336 11 |
| Shoulder girdle muscle atrophy 0.7997799027511653 1.71883046935204 0.0856452457149516 1.0 0.3890306297193693 5 P06753,Q9H9S5,Q13049 3 |
| Recurrent respiratory infections 0.3598863903021679 1.716658565956792 0.0860415748913654 1.0 0.3890306297193693 137 P26038,Q7RTS9,P14174,Q71SY5,P06753,P10253,P54802,Q13432,P16278,Q9Y487,P02786,P15586,P00813,P20700,P07602,Q15056,P08236,P51798,O96028,P11274,P04066,Q86YV9,O60826,Q9UIG0 24 |
| Erythema 0.5249166469759671 1.7164171191305615 0.0860857255055049 1.0 0.3890306297193693 25 P22830,P03886 2 |
| Skeletal dysplasia 0.4392504627575137 1.7163317559776554 0.0861013392656475 1.0 0.3890306297193693 47 P16278,Q8WVQ1,Q96L58,Q9HC07,Q7RTS9,Q14739,O95831,Q96HY6,P10619 9 |
| Micromelia 0.527821791468033 1.7161498253634662 0.0861346237980922 1.0 0.3890306297193693 24 Q9UQE7,Q9UHX1,Q15392,O75718,Q14739,Q96HY6,Q9UBM7,P48735 8 |
| Lagopthalmos 0.8575187230678072 1.7157858343265546 0.0862012478135509 1.0 0.3890306297193693 3 O75844 1 |
| Leukoencephalopathy 0.3963699114347393 1.7155416186800252 0.0862459717689569 1.0 0.3890306297193693 101 P07942,Q01105,O75503,Q9UHX1,O43676,O95831,O75251,Q9BUB7,P03886,P20700,P07602,Q7LG56,P11177,Q9H9S5,O96028,Q96CU9,O00584,O75306,Q93009,O43681,Q9NWW5,O75380 22 |
| Metatarsus valgus 0.8342951360263715 1.7147687647742496 0.0863876303869028 1.0 0.3890306297193693 4 Q8NAT1,Q9H9S5,O43505 3 |
| Autoimmunity 0.4604272020718837 1.7146172204951693 0.0864154293986978 1.0 0.3890306297193693 40 Q8IZA0,Q15437,Q03252,P14174,O00192,P00813 6 |
| Abnormal lung development 0.4275284552325595 1.713603041223269 0.0866016546417718 1.0 0.3890306297193693 51 O60566,Q9UHX1,P98175,Q96L58,O96028,O75844,O75419,P02545,Q14739,Q5JTZ9,P25705,O00192,Q9UBM7,Q969N2,Q5H8A4,P31749 16 |
| Short lingual frenulum 0.8558461297070066 1.7092974763684368 0.0873958605520677 1.0 0.3908840846828283 3 O75844 1 |
| Overtubulated long bones 0.8558461297070066 1.7092974763684368 0.0873958605520677 1.0 0.3908840846828283 3 O75844 1 |
| Centrally nucleated skeletal muscle fibers 0.6955175031168105 1.7075162428056845 0.0877261413905028 1.0 0.3919840183092948 8 Q9BPX6,P06753,Q13049 3 |
| Abnormal renal cortex morphology 0.4208044463583378 1.7053031897083697 0.0881378930135003 1.0 0.3930679355410137 58 P03886,Q14108,O15078,P00846,Q9NZ08,O43707,P02545,Q03252,O75431,Q8N1F7,P00813,P06280 12 |
| Heinz bodies 0.7629772040648152 1.7030232758322483 0.0885637126403304 1.0 0.3939456145404887 2 O14936 1 |
| Reduced subcutaneous adipose tissue 0.6695648226542964 1.702435327468052 0.0886737922981173 1.0 0.3939456145404887 9 O75844 1 |
| Central apnea 0.6691302796046308 1.700376908739005 0.0890600523886679 1.0 0.3950604828588226 9 P11166,P07602,O15078,Q8N3U4,O76024,Q10713,Q14683 7 |
| Somatic sensory dysfunction 0.3777207077767497 1.7001922592576135 0.0890947678149443 1.0 0.3950604828588226 122 Q71SY5,P02545,O75298,P39210,P54802,O14773,P06280,P05067,Q00796,Q9NR77,P11166,Q8NCH0,O95831,Q96RR1,P50336,P20700,P07602,Q8IV08,P00846,Q9Y448,P41440,Q9NZ08,P07196 23 |
| Abnormal pleura morphology 0.517387860136389 1.6960443075506944 0.0898774894110781 1.0 0.3971397238390057 26 Q8NCH0,Q96L58,Q9NZ08,P52732,Q14739,P14174 6 |
| Angioid streaks of the fundus 0.7613293051359495 1.695740982443776 0.0899349435998528 1.0 0.3971397238390057 2 P31749 1 |
| Cupped ribs 0.71597486047486 1.6956886336805113 0.0899448622080139 1.0 0.3971397238390057 7 P00813,O95831 2 |
| Loss of speech 0.5344215586133674 1.6950625267421664 0.0900635599980663 1.0 0.3971397238390057 20 P07602,O15118,P61916,P50897,O43681 5 |
| Oval face 0.7157072491694282 1.694516452264306 0.090167188078166 1.0 0.3971397238390057 7 Q96L58,Q01082,Q9UHX1,O14936 4 |
| Frontotemporal dementia 0.6661238594839324 1.6861260576139043 0.0917715220186283 1.0 0.4003598514291943 9 P05067,Q14203 2 |
| Impaired vibratory sensation 0.4644359993076076 1.686108069525989 0.0917749860152925 1.0 0.4003598514291943 37 Q9NR77,P20700,P00846,O75298,O14773,Q96RR1,P07196,Q00796 8 |
| Retinopathy 0.4705492789078963 1.6842519499801725 0.0921329872375633 1.0 0.4008812250430794 34 Q15555,P00846,Q9NZ08,O75306,P52732,Q8NHS3,O96028,Q13049 8 |
| Cardiorespiratory arrest 0.8257519610603388 1.6813034801567115 0.0927039822658253 1.0 0.4008812250430794 4 O43772 1 |
| Testicular dysgenesis 0.7577588574567407 1.679952505136781 0.0929665569122661 1.0 0.4008812250430794 2 Q9H0U9 1 |
| Ovarian gonadoblastoma 0.7577588574567407 1.679952505136781 0.0929665569122661 1.0 0.4008812250430794 2 P51809 1 |
| Abnormal sex determination 0.7577588574567407 1.679952505136781 0.0929665569122661 1.0 0.4008812250430794 2 P51809 1 |
| Female external genitalia in individual with 46 xy karyotype 0.7577588574567407 1.679952505136781 0.0929665569122661 1.0 0.4008812250430794 2 P51809 1 |
| Hypoplasia of the vagina 0.7577588574567407 1.679952505136781 0.0929665569122661 1.0 0.4008812250430794 2 P51809 1 |
| Toxemia of pregnancy 0.7532923512134136 1.6798039187162273 0.0929954724761006 1.0 0.4008812250430794 6 P02545,Q01082,O43772 3 |
| Flat face 0.5145278920561334 1.6761737567647168 0.0937041629864579 1.0 0.4014159122152944 26 O00754,Q15555,Q9NX62,Q96L58,Q9Y487,Q13555,P08236,Q9BUB7 8 |
| Falls 0.6886135761266855 1.6761545384796328 0.0937079263296021 1.0 0.4014159122152944 8 Q01082,O75787 2 |
| Abnormal muscle fiber protein expression 0.7113745651170094 1.675523614816513 0.0938315417440414 1.0 0.4014159122152944 7 P50402,Q8WXH0,P02545,Q9H9S5,Q13642 5 |
| Decreased calvarial ossification 0.8242473561886683 1.6754019879316573 0.0938553868474092 1.0 0.4014159122152944 4 P02545,O75844 2 |
| Increased bone mineral density 0.5096035493773312 1.6749522821066731 0.0939435944443543 1.0 0.4014159122152944 27 Q14108,Q15056,Q15392,Q14739,P02545,Q13126,P54802,P51798 8 |
| Aplasia hypoplasia involving bones of the feet 0.3995443406866073 1.673404197404671 0.0942477521111875 1.0 0.4014159122152944 79 Q9Y366,Q9UQE7,P55011,Q9UHX1,O95155,Q8WVQ1,Q9NX62,Q8N0X7,Q13555,Q7RTS9,P02545,Q9Y448,Q8N3R9,P00813,Q9UBM7,O96028 16 |
| Hand muscle weakness 0.6377708838140189 1.6698322412550386 0.0949525594811828 1.0 0.4014159122152944 10 Q9NR77,Q8TD16,P07196 3 |
| Mitochondrial respiratory chain defects 0.6870082139763862 1.6688508861907454 0.0951469350921407 1.0 0.4014159122152944 8 P03886,P00846 2 |
| Increased sulfur amino acid level in urine 0.7501680014401759 1.66673391583586 0.0955673257855371 1.0 0.4014159122152944 6 Q9NUN5,Q4J6C6 2 |
| Distal amyotrophy 0.4110240632289754 1.6662452059347448 0.0956645854155584 1.0 0.4014159122152944 63 Q9NR77,Q99720,Q8N0X7,Q7Z406,Q8TD16,P02545,Q71SY5,P06753,P39210,P07196 10 |
| Uveitis 0.6369627054572932 1.6658183735636474 0.0957495954295499 1.0 0.4014159122152944 10 P14174 1 |
| Abnormal circulating arginine concentration 0.7544630595990092 1.6653664814543634 0.0958396623586146 1.0 0.4014159122152944 2 Q9NVS9 1 |
| Central nervous system cyst 0.4081016502143385 1.664928291148807 0.0959270631254138 1.0 0.4014159122152944 65 Q9UHX1,O60826,O15078,P23786,Q9Y487,P00846,P80404,O43505,Q8NAT1,P11177,Q9H9S5,P15291,Q9BSJ2,O96028,Q9UBM7 15 |
| Cogwheel rigidity 0.6860952234989685 1.664695356654368 0.0959735498473079 1.0 0.4014159122152944 8 Q96RR1,P00846,O75787 3 |
| Anomalous trichromacy 0.8442523947290168 1.6642517403037829 0.096062132201816 1.0 0.4014159122152944 3 O60313 1 |
| Tritanomaly 0.8442523947290168 1.6642517403037829 0.096062132201816 1.0 0.4014159122152944 3 O60313 1 |
| Large placenta 0.8442307692307698 1.6641676050540444 0.0960789399057784 1.0 0.4014159122152944 3 P02545,O75844 2 |
| Agnosia 0.6614822124286025 1.6640917567406115 0.0960940941451655 1.0 0.4014159122152944 9 O96008,P05067,O75787 3 |
| Hypoglycemic seizures 0.7495059070025382 1.6639626000493577 0.0961199036222029 1.0 0.4014159122152944 6 P53985,Q13423 2 |
| Abnormality of circulating enzyme level 0.3861388987515591 1.6634621450420484 0.0962199623143964 1.0 0.4014159122152944 110 Q86VD7,Q9HC07,O43772,P02545,P06753,P10253,P39210,Q9Y6N5,P49748,Q7Z406,P53985,O95831,Q6ZXV5,Q9BPX6,Q96RR1,Q13049,Q15056,P23786,O43505,Q7LG56,Q9H9S5,P09493,Q14331,Q8NAT1,P15291,Q8NFF5,P07196 27 |
| Hyperactive deep tendon reflexes 0.6364192887339322 1.663118728735819 0.0962886716135758 1.0 0.4014159122152944 10 Q9NR77,P11166 2 |
| Abnormality of the calcaneus 0.6362801133239973 1.6624272235125594 0.0964271442038728 1.0 0.4014159122152944 10 Q7RTS9,O75787 2 |
| Adipose tissue loss 0.6611199056054662 1.6623702300784546 0.096438564132498 1.0 0.4014159122152944 9 O75844,O75431,Q03252 3 |
| Abnormality of chromosome segregation 0.7857235032185496 1.66210082916499 0.0964925593689827 1.0 0.4014159122152944 5 Q15437,Q14739 2 |
| Optic disc pallor 0.4163203376591721 1.6599476109027604 0.0969249922498052 1.0 0.4023934767259415 58 O60313,Q96L58,O43676,O95831,O75251,Q6P4Q7,Q9H6K4,Q8NHS3,O14936,P03886,O00754,P00846,Q9Y4W6,P51798,P04439,Q96CU9,O75306,O75380,Q9GZY8 19 |
| Patchy alopecia 0.8430719650014408 1.659658616173414 0.0969831491140638 1.0 0.4023934767259415 3 O75844 1 |
| Female hypogonadism 0.7849914734313619 1.659140338506441 0.0970875164225759 1.0 0.4024671621906427 5 O75844 1 |
| Reduced consciousness confusion 0.3453386864456063 1.6564825555535072 0.097624134884559 1.0 0.4036075630318644 144 O96008,O43772,Q8N3U4,Q9HC21,Q9UBM7,P05067,A2RRP1,P11166,Q9Y6N5,P49748,O43676,P80404,O75251,O14678,Q9NXR1,Q96RR1,Q5H8A4,P50336,P00403,P03886,P20674,Q9Y3D3,O00754,P07602,P23786,Q7LG56,Q9H9S5,Q96CU9,P31749,P49792,Q9NWS8,Q13423,Q9NZ08,P46783,O75306,P31751,O43681,O75380,P23378,Q9NUN5,P49770 41 |
| Tissue ischemia 0.5216319662800047 1.6563784148211247 0.0976452095336317 1.0 0.4036075630318644 23 Q15056,Q9NZ08,P02545,P06280,O75844,P05067 6 |
| Angiofibromas 0.7842295227274747 1.6560582170064466 0.0977100297849897 1.0 0.4036075630318644 5 Q15437 1 |
| Adenoma sebaceum 0.7842295227274747 1.6560582170064466 0.0977100297849897 1.0 0.4036075630318644 5 Q15437 1 |
| Rigidity 0.4148374600616269 1.6555901903042864 0.0978048381000229 1.0 0.4036403931179455 59 P16278,P07602,P00846,Q15392,O75787,Q14203,Q7LG56,P52732,Q9Y4W6,Q96F07,Q9H6K4,P49792,O43681,Q9BPX6,Q96RR1,Q96CU9,P17480,O14936 18 |
| Abnormal tongue morphology 0.3977317859054597 1.6530228467001948 0.0983262139183112 1.0 0.4049888439400725 80 P98175,Q71SY5,P02545,P10253,Q9UBM7,P16278,P20700,O00754,Q15056,O15078,Q03252,Q9H9S5,O75431,P11274,P04066,Q15437,Q14331,Q01082,O60826,O75844,Q9NUN5,P07196 22 |
| Abnormal thoracic spine morphology 0.4962784947742458 1.652437993475288 0.0984452957203982 1.0 0.4049888439400725 29 O00754,Q9UHX1,Q7RTS9,O95831,P02545,P06753,O75844 7 |
| Abnormality of the intrahepatic bile duct 0.7832638598851638 1.6521511618805784 0.0985037394984451 1.0 0.4049888439400725 5 P02545,Q9NUN5 2 |
| Memory impairment 0.441790113788875 1.6513149070975148 0.0986742899267514 1.0 0.4049888439400725 44 P03886,P07602,O96008,Q9NZ08,Q7LG56,Q9Y4W6,O43681,Q96RR1,P05067,P31749,P00403 11 |
| Osteomyelitis 0.5477895512056559 1.650985032435539 0.0987416311995055 1.0 0.4049888439400725 17 Q01082,Q13126,P39210 3 |
| Ketotic hypoglycemia 0.8406400878877732 1.6501922540200662 0.0989036206179561 1.0 0.4051213264960299 3 P53985 1 |
| Abnormality of the vertebral endplates 0.7055416771045948 1.649910712420822 0.0989611993876544 1.0 0.4051213264960299 7 Q96L58,Q7RTS9,P51798 3 |
| Orthostatic hypotension due to autonomic dysfunction 0.6579670847002261 1.6473795873370407 0.0994800483742519 1.0 0.4060871779572539 9 P07602,O43681 2 |
| Central diabetes insipidus 0.7503433122768448 1.6471182566521134 0.099533741272501 1.0 0.4060871779572539 2 P35222 1 |
| Upper limb amyotrophy 0.607056863969366 1.642765817016511 0.1004313952283282 1.0 0.4076023525118264 13 Q9NR77,P07196,Q14203 3 |
| Distal upper limb amyotrophy 0.6156788289701806 1.6412482595892617 0.1007458916249977 1.0 0.4084675100854173 12 Q9NR77,P07196,Q14203 3 |
| Hamartomatous polyposis 0.8151418325546199 1.6396405060459998 0.1010799357556013 1.0 0.4088063198052912 4 P20585,Q15437 2 |
| Third degree atrioventricular block 0.8373965017846365 1.637558444769866 0.1015138376728459 1.0 0.4102041771006218 3 P02545 1 |
| Paralysis 0.4195477332030738 1.636413433958487 0.1017530894873579 1.0 0.4108137331431384 51 P31040,P35637,P02545,P10253,Q92804,P43243,Q9HC21,Q9NR77,P11166,Q14203,O95140,P50336,P20700,Q15233,P51798,P04062,P16930,Q68CQ7,P50402,Q15165,P42356 21 |
| Abnormality of the pulmonary veins 0.7424008277351872 1.6341886294682575 0.1022192493283169 1.0 0.4119799233553242 6 Q15392 1 |
| Soft tissue sarcoma 0.4641893070217586 1.6331629566181618 0.1024347285611313 1.0 0.4124906270568261 34 Q96JJ3,Q13126,Q15392,Q15437 4 |
| Abnormal 2nd finger morphology 0.7016117244579628 1.6326262463876011 0.1025476276745722 1.0 0.4125877279686037 7 Q71SY5,Q9Y448,Q8WVQ1 3 |
| Airway obstruction 0.5756409360852215 1.630066643754818 0.1030874126101557 1.0 0.4139318240301313 15 P02545,O75844,P06280,Q96HY6 4 |
| Cyclopia 0.7459489151332028 1.6276350366071073 0.1036022953680806 1.0 0.4150343677374747 2 Q8N3U4 1 |
| Panhypopituitarism 0.7459489151332028 1.6276350366071073 0.1036022953680806 1.0 0.4150343677374747 2 Q8N3U4 1 |
| Flattened femoral epiphysis 0.7456742653117251 1.6264167235018625 0.1038610356076352 1.0 0.4151851507382262 2 Q9NUQ7 1 |
| Premature osteoarthritis 0.7456742653117241 1.626416723501859 0.1038610356076359 1.0 0.4151851507382262 2 Q96HY6 1 |
| Positional foot deformity 0.3763706450577367 1.6261959914673572 0.10390796864828 1.0 0.4151851507382262 118 P98175,Q9HD42,Q7RTS9,Q8TD16,P02545,P06753,O00192,Q9UBM7,Q9NR77,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,Q15392,Q6ZXV5,P32929,O00754,O15078,P08236,O75530,O96028,Q01082,P07196 24 |
| Heparan sulfate excretion in urine 0.8111821689384495 1.6240648013241583 0.1043619791869092 1.0 0.416351354494644 4 P15586,P54802 2 |
| Hypoketotic hypoglycemia 0.6770720226597595 1.6235552403194764 0.1044707647630185 1.0 0.416351354494644 8 P23786,P31751,O43772 3 |
| Mitral valve calcification 0.8109486825583307 1.623145915689219 0.1045582162029803 1.0 0.416351354494644 4 O75844,O75431 2 |
| Cardiac valve calcification 0.8109486825583307 1.623145915689219 0.1045582162029803 1.0 0.416351354494644 4 O75844,O75431 2 |
| Upper limb postural tremor 0.833077731140835 1.620723366072646 0.1050769801108688 1.0 0.4174032511565546 3 Q9NR77 1 |
| Abnormality of the lymphatic system 0.3496827085917986 1.6205422481175191 0.1051158465762613 1.0 0.4174032511565546 158 Q14108,O15118,P14174,P02545,P10253,P54802,O00192,P16278,P11166,P28070,Q15392,P15586,Q14739,P00813,P10619,O14936,O00754,O95155,P07602,O15078,P08236,O96028,P48735,P11274,P04066,P61916,Q9NZ08,Q15437,P31751,Q96HY6 30 |
| Tremor by anatomical site 0.4969751788067981 1.6200310485445013 0.1052256074716326 1.0 0.4174032511565546 28 Q9NR77,P20700,Q99720,P07196 4 |
| Mental deterioration 0.3862754918536041 1.619551214795501 0.1053287164731142 1.0 0.4174032511565546 105 Q14108,P27544,O15118,O96008,P54802,O75503,P05067,P16278,O60313,Q9Y487,Q14203,Q8NHS3,Q96RR1,P00403,P03886,P20700,P07602,Q15046,P50897,P00846,Q7LG56,Q96F07,P61916,O75306,O43681,Q9NWW5 26 |
| Serositis 0.520649328659603 1.6188612012296852 0.105477130458212 1.0 0.4175061543776077 21 Q9NZ08,O43707,P14174 3 |
| Dysmetria 0.4148546441284874 1.6175732749386174 0.1057545924402136 1.0 0.4182481626124876 55 P20700,O60313,Q15056,Q8IV08,Q8N0X7,O75787,Q7LG56,Q10713,Q9Y4W6,O75027,O14773,P42356,O75503,P41440,Q6DKK2,Q9UIG0 16 |
| Venous malformation 0.743477066739904 1.6166676967536278 0.1059500304 1.0 0.4186647884938778 2 P31749 1 |
| Thin ribs 0.6014484617529484 1.612833758350256 0.1067806297373152 1.0 0.4208732708984767 13 O75844,O75431,O95831 3 |
| Abnormality of upper limb joint 0.3645645819766708 1.6114166297888888 0.1070889450259859 1.0 0.4213745881082532 128 Q7RTS9,Q8IZA0,Q8WVM7,Q71SY5,P02545,P06753,Q9NR77,P16278,Q8WVQ1,Q96L58,Q15392,O95831,P42892,Q9BUB7,O95155,Q15056,P23786,O75530,O96028,P11274,Q9UQE7,Q9NUQ7,O75844,P07196,Q9UIG0 25 |
| Papule 0.5233459597631852 1.6114155815293256 0.107089173349655 1.0 0.4213745881082532 19 O75844,Q9NZ08,P16615,Q15437 4 |
| Limb girdle muscle atrophy 0.6010003739610393 1.6104393414931095 0.1073019777770103 1.0 0.4214906627538581 13 P50402,Q8WXH0,Q13642,Q14331,P02545,P06753,Q9H9S5,Q13049 8 |
| Abnormal speech prosody 0.6499163817735933 1.6090231618269069 0.1076112771270068 1.0 0.4219996665056545 9 P03886 1 |
| Type 1 muscle fiber atrophy 0.6955615564314599 1.6059747448782953 0.1082794590790887 1.0 0.4242619277744734 7 P50402,Q8WXH0,P06753,P02545 4 |
| Premature loss of teeth 0.5999583394602745 1.604869416452512 0.108522545369968 1.0 0.4246863761791218 13 P02545,O75844,Q969N2 3 |
| Progressive 0.3766168918018815 1.604489352530596 0.1086062295663872 1.0 0.4246863761791218 116 Q99720,P07942,P55263,P27544,P02545,O75298,Q13126,P39210,P54802,Q9NVC6,O60313,O00400,Q8TEQ6,Q7Z406,P57740,P15586,O95831,Q5MNZ6,Q5JTZ9,O75251,Q96RR1,P20700,Q7LG56,Q03252,Q9Y4W6,O95470,Q8N1F7,P04062,P31749,O75569,P35606,Q9NR28,O00764,Q9GZY8 34 |
| Chorioretinal dysplasia 0.6950733028975415 1.6038217741536271 0.1087533435879395 1.0 0.4246863761791218 7 Q9H9S5,O43505,P52732 3 |
| Tetraplegia tetraparesis 0.4201730215104311 1.6027484150983784 0.1089902098032817 1.0 0.4252539924062555 49 P20700,Q9UBX3,P07602,Q7RTS9,P00846,O95831,O43681,P50336 8 |
| Soft skin 0.6483058990852878 1.6013371485591956 0.1093022653089828 1.0 0.425882290700204 9 Q96L58,Q13126 2 |
| Supraventricular arrhythmia 0.5396648670000769 1.6011914022065707 0.1093345325597898 1.0 0.425882290700204 17 P50402,Q8WXH0,P00846,O95235,Q7LG56,P02545,Q96RR1,Q8NFF5,Q13642 9 |
| Macrovesicular hepatic steatosis 0.6480235617606248 1.5999892561241889 0.1096009668589472 1.0 0.4262056008314042 9 P23786,O75431,P39210 3 |
| Long upper lip 0.7393573194177376 1.598376516305792 0.1099592077451263 1.0 0.4272411692237476 2 Q96L58 1 |
| Shallow orbits 0.6474474904916294 1.597238658147853 0.1102125185350786 1.0 0.4276054216607335 9 O75844,O75431 2 |
| Abnormality of the tonsils 0.6473380586719177 1.5967160869343382 0.1103290080850483 1.0 0.4276054216607335 9 P00813,P31751 2 |
| Broad femoral neck 0.8038892663004331 1.5953408757548797 0.1106360296213726 1.0 0.4284305963043753 4 Q7RTS9,Q8WVQ1 2 |
| Abnormality of the distal phalanges of the toes 0.7330561165276483 1.594937081064665 0.110726306469024 1.0 0.4284305963043753 6 P02545,O75431,O75844,Q71SY5 4 |
| Subcutaneous nodule 0.5203303587713436 1.5919758531275945 0.1113901302726847 1.0 0.4300017429797584 19 P31749,P35637,Q9NZ08,Q9Y2U8,P52732,Q15437,P48735,P06280,P35222 9 |
| Joint subluxation 0.6923076044618239 1.5916203376116238 0.1114700375525636 1.0 0.4300017429797584 7 P16278,Q9UHX1 2 |
| Abnormal greater sciatic notch morphology 0.7322332744093212 1.5914759828351352 0.1115024962966664 1.0 0.4300017429797584 6 Q7RTS9,Q96HY6 2 |
| Aplasia hypoplasia involving bones of the thorax 0.4478646633454781 1.586515039925918 0.1126225231585211 1.0 0.4322426690598767 39 Q9UHX1,O95155,P98175,Q96L58,Q7RTS9,O75419,P02545,Q14739,O75431,Q96HY6,O60826,O75844 12 |
| Flat acetabular roof 0.7307891682649779 1.585399843169908 0.1128755167994619 1.0 0.4322426690598767 6 Q9Y366,Q7RTS9 2 |
| Decreased circulating total igg 0.7363361713814842 1.5849536349716604 0.1129768690084369 1.0 0.4322426690598767 2 Q9Y448 1 |
| Decreased circulating total iga 0.7363361713814842 1.5849536349716604 0.1129768690084369 1.0 0.4322426690598767 2 Q9Y448 1 |
| Abnormal pharynx morphology 0.4311317866537135 1.5826731535882803 0.1134959803406006 1.0 0.4322426690598767 45 P16278,O15344,Q7RTS9,P15586,Q86YV9,P08236,P54802,P00813,P29372 9 |
| Abnormal retinal artery morphology 0.505181625668152 1.581029563843327 0.1138712781816477 1.0 0.4322426690598767 25 P03886,P16278,P07602,Q15056,P00846,O00192,P10619 7 |
| Kyphosis 0.3494239429088913 1.580604459234481 0.1139685055971078 1.0 0.4322426690598767 163 Q14108,Q9HC07,Q8IWS0,Q7RTS9,Q8TD16,Q71SY5,P02545,Q5KU26,P06753,Q8N3R9,Q9UBM7,Q9NR77,P16278,Q9UHX1,Q8NCH0,Q8WVQ1,Q8N0X7,O95714,Q9Y487,Q96L58,O95831,Q5MNZ6,Q14739,Q5H8A4,Q96L73,O00754,P55011,O95155,Q15056,Q15233,Q9NWM8,P34059,Q9H9S5,P08236,O96028,P17480,P31749,P04066,Q9NUQ7,Q15437,Q01082,Q93009,O60826,O75844,O75175,Q9UIG0 46 |
| Dilated third ventricle 0.7654636536342494 1.579957687789593 0.114116556701816 1.0 0.4322426690598767 5 Q71SY5,O75787 2 |
| Breathing dysregulation 0.7992249115621097 1.5769460147945755 0.1148079474203558 1.0 0.4344564590084637 4 O75380 1 |
| Proximal muscle weakness in upper limbs 0.5802944678907547 1.5740460714132425 0.1154767987233866 1.0 0.4358031284221446 14 P50402,Q8WXH0,O95140,P02545,Q13642,P07196,P50336 7 |
| Abnormal sweat gland morphology 0.8209765512967013 1.5734747868962558 0.1156089219586116 1.0 0.4358031284221446 3 O75844 1 |
| Abnormal neuron morphology 0.4905174922844441 1.5733778776739642 0.1156313463243536 1.0 0.4358031284221446 28 Q99720,Q15165 2 |
| Pericardial effusion 0.7638436923710261 1.5733719346940562 0.1156327216149137 1.0 0.4358031284221446 5 P02545,Q14108,P49748 3 |
| Abnormality of the neck 0.3586232718037096 1.5719832354514702 0.1159544392218738 1.0 0.4366614903274294 186 Q99720,Q7RTS9,P02545,Q8N201,O00192,Q9UBM7,Q96EK5,P16278,A2RRP1,P11166,O60566,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,P15586,O95831,Q14739,Q9NXR1,Q13049,O00754,Q9Y3D3,O95155,Q15056,O15078,Q9Y448,P08236,O75431,O96028,P11274,Q9UQE7,Q15555,Q96RK4,O75569,P46783,Q01082,Q96HY6,O60826,O75844,Q9UIG0 40 |
| Restrictive cardiomyopathy 0.7333150233452301 1.5715232193803903 0.1160611653478 1.0 0.4367095023248801 2 Q969N2 1 |
| Tongue atrophy 0.7975143070832675 1.570195435097998 0.1163696512427976 1.0 0.4372039264306265 4 P07196,Q14331 2 |
| Abnormality of the musculature of the thigh 0.6651440865023204 1.5689835588444203 0.116651770027 1.0 0.4374254382280697 8 P50402,Q8WXH0,P02545,Q13642,P07196 5 |
| Insulin resistant diabetes mellitus 0.6866662695576803 1.5667015474018455 0.1171844689396608 1.0 0.4380983323914754 7 P02545,O75844,O75431 3 |
| Abnormality of the tarsal bones 0.4792871809402504 1.5661600768433128 0.1173111464559484 1.0 0.4381703352652964 30 Q9UHX1,Q8WVQ1,P98175,Q7RTS9,O75787,P02545,O75844 7 |
| Abnormality of the wrist 0.4539742461380621 1.5657738082453605 0.117401580012644 1.0 0.4381703352652964 35 P16278,Q8WVQ1,Q96L58,Q7RTS9,O95831,P02545,Q9H6K4,Q9NUQ7,O75844 9 |
| Macrogyria 0.6863743241645832 1.5654108686234625 0.1174866016226725 1.0 0.4381703352652964 7 O43505,Q9H9S5,Q15392,O14936 4 |
| Impacted tooth 0.8184693143230749 1.5636721378918392 0.117894584184738 1.0 0.439339320534465 3 O75844 1 |
| Breast aplasia 0.8175824175824181 1.5602035762753024 0.1187117807841056 1.0 0.4398558518677496 3 P02545,O75419 2 |
| Cerebral inclusion bodies 0.6000237709399733 1.5594926384538583 0.1188798255810323 1.0 0.4398558518677496 12 P05067,O15118,P61916 3 |
| Impaired tactile sensation 0.6393958064889849 1.5587381539513068 0.1190583674278911 1.0 0.4398558518677496 9 Q9NR77,Q5TAQ9,P39210 3 |
| Stroke 0.4530819126539713 1.5584896863829394 0.1191172109823264 1.0 0.4398558518677496 35 P03886,Q15056,Q96L58,Q9UIG0,P02545,P06280,O75844,P05067,P13807 9 |
| Flattened epiphysis 0.7944316574905177 1.5580244948285475 0.1192274416716778 1.0 0.4398558518677496 4 Q8WVQ1,O95831 2 |
| Abnormal thyroid morphology 0.4246129982532227 1.5512308720578918 0.120846366267862 1.0 0.4435800709283752 46 P20585,Q15437,P02545,P42892,P00813,Q96RR1,P48735 7 |
| Abnormality of the larynx 0.4102015698042178 1.5455163922697488 0.1222214070134077 1.0 0.4466409095824902 51 Q9UHX1,P07602,Q68CQ7,Q15165,Q14203,P02545,Q01082,Q96HY6,O00192,Q9UBM7 10 |
| Abnormality of neutrophil morphology 0.7207896153066078 1.5432642559379872 0.1227666724572458 1.0 0.4477996286568456 6 P35579,P41440 2 |
| Muscle spasm 0.402772779716866 1.542661336333731 0.1229129675016624 1.0 0.4479816156707651 60 Q9NR77,P49748,Q68CQ7,P23786,P00846,P53985,Q15165,Q14203,O75298,Q9H9S5,P07196,Q96RR1,P06280 13 |
| Blurred vision 0.6810285449761836 1.5417587873542973 0.1231322203705755 1.0 0.4483254643278156 7 P03886,P00846,O75306 3 |
| Focal dystonia 0.4906941220209313 1.5406846263496978 0.1233935602326106 1.0 0.4486775230054315 27 Q96L58,Q99720,O75569 3 |
| Eeg with focal spike waves 0.7258994781653338 1.5385279224589912 0.1239195867009554 1.0 0.4494891021858985 2 P11166 1 |
| Generalized myoclonic atonic seizure 0.7258994781653338 1.5385279224589912 0.1239195867009554 1.0 0.4494891021858985 2 P11166 1 |
| Abnormality of the cheek 0.3975894948503858 1.5381092988443394 0.1240218927503649 1.0 0.4494891021858985 64 Q9UHX1,O15078,Q96JJ3,Q9Y487,P52732,P02545,O75431,Q9Y366,O60826,O96028 10 |
| Progressive neurologic deterioration 0.5062551583910514 1.5376722523524475 0.124128771415207 1.0 0.4494891021858985 22 P16278,P20700,P07602,Q15046,Q7LG56,Q10713,P54802,O43681,P04062 9 |
| Muscle abnormality related to mitochondrial dysfunction 0.4343058453243061 1.534692693307406 0.1248593314803783 1.0 0.4515340960228155 42 P03886,O60313,Q9UBX3,O43676,P00846,Q7LG56,O75306,O75251,O75380,Q96RR1,Q9Y2R0,Q96CU9 12 |
| Fractures of the long bones 0.8108710923105267 1.5339396639253655 0.125044496950496 1.0 0.4518520819043196 3 Q13126 1 |
| Upper limb asymmetry 0.8106365369927158 1.533021249804387 0.1252706192362038 1.0 0.4520875566764902 3 Q15555 1 |
| Abnormal peripheral nervous system morphology 0.3509394116818442 1.5284611648633413 0.1263980785878369 1.0 0.4547934534114798 174 Q99720,Q71SY5,P02545,P06753,P39210,Q9HC21,Q00796,Q9NR77,O60313,Q9UHX1,Q7Z406,Q9BQT8,Q14203,O95831,Q9BPX6,Q96RR1,Q13049,Q6DKK2,P00403,P03886,P20700,P07602,Q15046,Q8IV08,P00846,Q7LG56,Q9Y4W6,Q9H9S5,P51798,P41440,P17480,P31749,Q14331,Q01082,Q5TAQ9,O43681,P07196,Q9GZY8 38 |
| Abnormality of skull ossification 0.572065000034663 1.5284288713578589 0.126406091086874 1.0 0.4547934534114798 14 O75718,Q14739,P02545,P54802,O75844 5 |
| Abnormality of upper limb epiphysis morphology 0.5431108025644041 1.5282692779784164 0.1264456943851155 1.0 0.4547934534114798 16 O96028,Q7RTS9 2 |
| Areflexia of lower limbs 0.5023850085592523 1.52682109024255 0.1268055057240282 1.0 0.4554597791060084 23 Q9NR77,O60313,O75787,Q7LG56,Q96RR1,P07196 6 |
| Symptomatic seizures 0.6776055801122913 1.526596045804309 0.1268614909038865 1.0 0.4554597791060084 7 P53985,Q13423 2 |
| Palpebral edema 0.7161302987615873 1.5235957984584203 0.1276097133874638 1.0 0.456659307708111 6 Q01082,Q9Y448 2 |
| Conjunctival hamartoma 0.8076586625647904 1.5213583579865972 0.1281699328141941 1.0 0.457103359775564 3 Q15437 1 |
| Bone cyst 0.8076586625647904 1.5213583579865972 0.1281699328141941 1.0 0.457103359775564 3 Q15437 1 |
| Follicular thyroid carcinoma 0.8076586625647904 1.5213583579865972 0.1281699328141941 1.0 0.457103359775564 3 Q15437 1 |
| Spastic diplegia 0.4922626928998725 1.5204788065258117 0.1283906813257151 1.0 0.4573562247698162 26 Q99720 1 |
| Calf muscle pseudohypertrophy 0.8073863849771379 1.5202917185369096 0.1284376744834539 1.0 0.4573562247698162 3 Q13049 1 |
| Cupped ear 0.5702071991127698 1.5181111379553558 0.1289863838195406 1.0 0.4579136545287676 14 Q15392 1 |
| Abnormal 3rd finger morphology 0.7843330342540765 1.5181032422437135 0.1289883739569952 1.0 0.4579136545287676 4 Q71SY5 1 |
| Abnormal delivery 0.4958233069418871 1.5163672840572529 0.1294265068170144 1.0 0.4584184277276417 25 Q9Y487,O75718,P02545,Q01082,P06753,Q9UBM7,O75844 7 |
| Decreased cervical spine mobility 0.720406481735782 1.5140622396349863 0.1300100545624753 1.0 0.4590856561943944 2 Q9H9S5 1 |
| Abnormality of the tongue muscle 0.720406481735782 1.5140622396349863 0.1300100545624753 1.0 0.4590856561943944 2 Q9H9S5 1 |
| Abnormal muscle fiber alpha dystroglycan 0.720406481735782 1.5140622396349863 0.1300100545624753 1.0 0.4590856561943944 2 Q9H9S5 1 |
| Fusion of the cerebellar hemispheres 0.720406481735782 1.5140622396349863 0.1300100545624753 1.0 0.4590856561943944 2 Q9H9S5 1 |
| Generalized osteosclerosis 0.8035714285714293 1.5053423307226153 0.1322360873836241 1.0 0.465884077385672 3 Q15392,P51798 2 |
| Microcornea 0.4482772564040311 1.504565193911875 0.1324359004330044 1.0 0.4662345676607361 34 Q9UQE7,Q15555,Q8NCH0,O15078,Q96L58,O43505,P52732,Q71SY5,Q8NAT1,Q9H9S5 10 |
| Fatty replacement of skeletal muscle 0.6276679885482574 1.5024833935417738 0.1329723135393101 1.0 0.4674147814048217 9 Q8NFF5,Q9H9S5,Q7Z406 3 |
| Hyporeflexia of lower limbs 0.5965218580815157 1.500219852187595 0.1335574624740108 1.0 0.468762483471849 11 Q9NR77,P02545 2 |
| Hypochromic anemia 0.5885133212722046 1.499079258592246 0.1338530717072323 1.0 0.4694454522441576 12 O75027 1 |
| Recurrent sinopulmonary infections 0.7092000826353979 1.4943026010658669 0.1350965456088624 1.0 0.4719741998236061 6 Q9Y487 1 |
| Acute phase response 0.4950942257746984 1.4935626232072972 0.135289974820761 1.0 0.4719741998236061 24 P41440,P14174 2 |
| Saccadic oscillation 0.8002747252747258 1.492417433661677 0.1355897475284084 1.0 0.4719741998236061 3 Q5THJ4,P51798 2 |
| Aortic valve calcification 0.800274725274726 1.492417433661677 0.1355897475284084 1.0 0.4719741998236061 3 P02545,O75844 2 |
| Centrocecal scotoma 0.7085694980270671 1.4916350112004997 0.1357948546487219 1.0 0.4723343484675232 6 P03886,P00846,O75306 3 |
| Pseudobulbar paralysis 0.6480015756796963 1.4902141809952982 0.1361679288406709 1.0 0.4732777601515318 8 P20700,Q14203,Q15233 3 |
| Abnormal circulating methionine concentration 0.7078825737062234 1.4887286842533158 0.136558828416146 1.0 0.4737991909712797 6 Q99707,Q6PGP7,P16930,P55263 4 |
| Pancreatic islet cell hyperplasia 0.7992712133365876 1.488482001595314 0.1366238252424176 1.0 0.4737991909712797 3 P53985 1 |
| Abnormality of limb epiphysis morphology 0.4575565059015888 1.4841974149567814 0.1377565554011441 1.0 0.4758059915088489 32 Q8WVQ1,Q96L58,Q7RTS9,O95831,Q9Y366,O96028 6 |
| Abnormal morphology of the conjunctival vasculature 0.6680263197518548 1.4840922321012149 0.1377844537089936 1.0 0.4758059915088489 7 P10619,P06280 2 |
| Talipes equinovarus 0.3810680725782028 1.483659391005513 0.1378993047072363 1.0 0.4758059915088489 93 Q9NR77,O00754,Q8NCH0,O00192,P98175,Q8WVQ1,Q9HD42,Q9Y487,Q96L58,Q7RTS9,Q8TD16,Q15392,Q01082,P06753,Q6ZXV5,O75530,O96028,P32929 18 |
| Abnormal left ventricle morphology 0.4439284927429863 1.4835843193776288 0.1379192318834559 1.0 0.4758059915088489 35 P03886,O60566,O75787,P00403,Q7LG56,Q9H9S5,P10253,O75431,P78536,Q96RR1,P06280,P13807 12 |
| Anemia of inadequate production 0.3820585324147649 1.4827830453650734 0.1381320620991177 1.0 0.4758604651826785 71 P22830,P41440,O75027,Q15437 4 |
| Progressive psychomotor deterioration 0.6462149542526943 1.4819837138300005 0.13834462846176 1.0 0.4758604651826785 8 P07602,O43681 2 |
| Abnormality of visual evoked potentials 0.4956861605308717 1.4814605505004597 0.1384838897766436 1.0 0.4759871566509341 23 O75503,P07602,O43681 3 |
| Abnormality of the thymus 0.5200076406521824 1.479963746790936 0.1388829218421599 1.0 0.4766535729693626 17 O00192,Q6PGP7,P00813 3 |
| Xerostomia 0.5491866068309346 1.478442588787913 0.1392893531474284 1.0 0.4773433805870942 15 P55011,Q68CQ7,P35637,Q15165,Q14203,Q14739,Q92804 7 |
| Adult onset 0.3819830777119132 1.4775600320349622 0.1395255788807596 1.0 0.4777962332440457 73 P20700,P07602,O15118,Q8IV08,P02545,Q71SY5,Q9Y4G8,P31751,Q9Y6M1,Q9NWW5,Q96RR1,P41440,Q14566 13 |
| Broad ribs 0.7402215097785965 1.477081113277515 0.1396538956024433 1.0 0.4777962332440457 5 Q7RTS9 1 |
| Pruritus 0.4925019465071575 1.4757874762776286 0.1400009538153255 1.0 0.4783709061616306 24 P22830,P00813 2 |
| Abnormality of the auditory canal 0.4968152875296786 1.4744617933311108 0.1403572974126228 1.0 0.4789650067550127 22 Q9UQE7,P55011,O75419,Q9H9S5,P78536,O96028 6 |
| Intestinal hypoplasia 0.7730483412896225 1.4734120207271455 0.1406399709207997 1.0 0.4789650067550127 4 O75844 1 |
| Widow s peak 0.795406404458205 1.4733209512922616 0.1406645139159348 1.0 0.4789650067550127 3 O15344 1 |
| Onion bulb formation 0.6440760144397646 1.4721253971822996 0.140987018383883 1.0 0.4789650067550127 8 Q9NR77,P07196 2 |
| Megalocornea 0.5479250033617032 1.4711731518493014 0.1412442959696145 1.0 0.4790965280078822 15 Q15056,Q9H9S5,O96028,Q96EK5,Q9UIG0 5 |
| Homocystinuria 0.771696470960701 1.4680530294570309 0.1420898189165163 1.0 0.480561418125947 4 Q9NUN5 1 |
| Intestinal malrotation 0.4608132987998487 1.4667477003002412 0.1424447016224952 1.0 0.4814112934107166 31 P55011,Q8NCH0,O60826,Q15392,Q14739,O00192,Q9UBM7,O96028 8 |
| Abnormal circulating ige level 0.663755290372022 1.4651100110509596 0.1428909057818632 1.0 0.4820396165728663 7 P00813 1 |
| Abnormal sternal ossification 0.7708978778060533 1.4648868256699354 0.1429517977450112 1.0 0.4820396165728663 4 O96028 1 |
| Calvarial skull defect 0.6424726468580408 1.4647321554747232 0.1429940082998246 1.0 0.4820396165728663 8 O96028,Q14739 2 |
| Left ventricular systolic dysfunction 0.6422191701285254 1.463563097025805 0.1433133617667223 1.0 0.4824235220739828 8 P02545,Q96RR1,O75844,P49748 4 |
| Progressive spastic quadriplegia 0.6421618486543896 1.463298715281322 0.1433856591331339 1.0 0.4824235220739828 8 P07602,O43681 2 |
| Congenital muscular dystrophy 0.7925750876312886 1.4622097622823869 0.1436837372783179 1.0 0.4824235220739828 3 P02545 1 |
| Spinal muscular atrophy 0.5732096658642707 1.461143950525853 0.1439759409559913 1.0 0.482724529309157 13 Q99720 1 |
| Retinal telangiectasia 0.6412853491918307 1.4592556241588217 0.1444947642243343 1.0 0.4834176885172656 8 P03886,P00846,O75306 3 |
| Nephrotic syndrome 0.4425249168414131 1.4578297324084908 0.1448874807556917 1.0 0.4840345960256644 34 Q14108,Q8NCH0,O15078,P51809,Q03252,Q8N1F7,P00813,Q13049,P06280 9 |
| Abnormality of glycolipid metabolism 0.6615799607125273 1.455434992403498 0.1455488748968969 1.0 0.4849386407395245 7 P07602,O43681 2 |
| Limb undergrowth 0.3979024599376518 1.4553387212805589 0.1455755119069586 1.0 0.4849386407395245 56 O00116,A2RRP1,Q9UQE7,Q9UHX1,P98175,Q7RTS9,O15287,Q15392,O75718,Q14739,P48735,Q96HY6,Q9Y366,Q9UBM7,Q969N2 15 |
| Nemaline bodies 0.7683107784257901 1.4546273299284036 0.1457724606627191 1.0 0.4852468658306989 4 O43676,P07196 2 |
| Ragged red muscle fibers 0.4953314850622465 1.4514788460361532 0.1466465685248175 1.0 0.4871097955216775 21 P31040,P03886,Q70HW3,Q9H2D1,P00846,Q7LG56,O95831,Q96RR1,P00403 9 |
| Patchy changes of bone mineral density 0.7893507810930702 1.449552172147282 0.1471834415522639 1.0 0.4879941797126899 3 Q13126 1 |
| Abnormal circulating citrulline concentration 0.6985946470163933 1.4493930283359584 0.147227854520592 1.0 0.4879941797126899 6 P03886 1 |
| Slow saccadic eye movements 0.5935405430994769 1.448410828776587 0.1475021880967761 1.0 0.4884674935901517 10 Q9Y4W6,Q8IV08 2 |
| Vocal cord paralysis 0.4995236328411631 1.4481293360622982 0.1475808825049651 1.0 0.4884674935901517 18 Q9NR77,P31040,P50402,Q8WXH0,Q14203,O95140,P02545,P43243 8 |
| Proximal upper limb amyotrophy 0.6979251875653563 1.4465551025024863 0.1480215685979367 1.0 0.4889283370268882 6 P50402,Q8WXH0,Q13642,P02545 4 |
| Abnormality of the musculature of the upper arm 0.6979251875653563 1.4465551025024863 0.1480215685979367 1.0 0.4889283370268882 6 P50402,Q8WXH0,Q13642,P02545 4 |
| Scapular winging 0.4857372492898065 1.4463831393653217 0.1480697682751794 1.0 0.4889283370268882 25 Q9Y487,Q8TD16,Q14331,P02545,P06753,P07196 6 |
| Abnormal scapula morphology 0.3983545170961217 1.4457540937207047 0.1482461861138122 1.0 0.4889283370268882 54 Q9Y487,Q7RTS9,Q8TD16,P46783,Q14331,Q14739,P02545,P06753,P07196 9 |
| Bradycardia 0.5858547493236494 1.445309713716176 0.1483709106352038 1.0 0.4889926395190014 11 P02545,O43772 2 |
| Rhabdomyolysis 0.5570350825345883 1.4447639842643945 0.1485241906263974 1.0 0.4891508957057894 14 P23786,Q86VD7,O43772 3 |
| Prominent superficial blood vessels 0.5779536299198416 1.443454639703749 0.1488924416474346 1.0 0.4900164138354311 12 Q9Y487,O75844 2 |
| Abnormal brainstem morphology 0.375482673322659 1.44261464776779 0.1491290547856918 1.0 0.4901009318169094 99 P07942,Q9HD42,Q96N67,Q5KU26,Q96EK5,O60313,O43676,O95831,O75251,Q6ZXV5,Q9NXR1,Q96RR1,Q13813,O14936,P03886,P20700,O15078,O43505,P11177,Q9H9S5,Q96CU9,Q9Y3C6,P31749,O75306,O75380 25 |
| Neurodegeneration 0.4675226764645904 1.4404713879567843 0.1497340792794101 1.0 0.4916917792074691 29 Q68CQ7,P35637,Q15165,Q14203,Q5JTZ9,Q01082,P08236,Q8NHS3,Q92804,P17480,Q6DKK2 11 |
| Echolalia 0.5919026275073926 1.440150803438108 0.1498247384027924 1.0 0.4916917792074691 10 Q9UHX1,O95714,O75787,Q01082,Q9UJS0 5 |
| Mitral stenosis 0.7641085434045999 1.437955520421829 0.1504466749758468 1.0 0.4926498533985542 4 P02545,O75844 2 |
| Persistence of primary teeth 0.6957565011135969 1.4373594448525429 0.1506158859996567 1.0 0.4926498533985542 6 O75844 1 |
| Cyanosis 0.4960346502640437 1.4343926468092416 0.1514602448459581 1.0 0.4932275807982952 19 P04066,P98175,O43772,P02545,O75844 5 |
| Acquired abnormal hair pattern 0.6939132518177525 1.4295409997372448 0.1528487995653349 1.0 0.4965662751532375 6 P02545,O75844 2 |
| Fragile nails 0.5897229085631222 1.4291528567902292 0.1529603041853495 1.0 0.4965662751532375 10 Q9Y487,Q13555 2 |
| Abnormality of the radioulnar joints 0.7841038638494349 1.4289459206873771 0.1530197774950368 1.0 0.4965662751532375 3 Q96L58 1 |
| Radioulnar dislocation 0.7841038638494349 1.4289459206873771 0.1530197774950368 1.0 0.4965662751532375 3 Q96L58 1 |
| Vertebral fusion 0.566942594384224 1.4272825116504848 0.1534984793982523 1.0 0.4974249886776001 13 O96028,Q9UHX1 2 |
| Abnormal arterial physiology 0.4548230574404308 1.4207149036270408 0.155399658028275 1.0 0.5028845479508315 31 Q15056,Q9NZ08,Q14739,P02545,P06280,O75844,P05067 7 |
| Diffuse cerebral atrophy 0.4949056599051662 1.4183200921084442 0.1560973332774331 1.0 0.5040891645171868 18 Q06787,Q9NVC6,P16278,P07602,O75787,Q10713,Q96T60,O14936 8 |
| Ventricular preexcitation 0.6100511128657398 1.4176333179766218 0.1562978474965899 1.0 0.5043861786921204 9 P03886,P00846,P10253,O75306 4 |
| Retinal vascular tortuosity 0.4914697171147908 1.4144929470780303 0.1572172167633021 1.0 0.5057527991620466 20 P03886,Q15056,P00846,O75306,O00192 5 |
| Absence of pubertal development 0.7248802938689547 1.4143283949915888 0.1572655035053061 1.0 0.5057527991620466 5 O75844 1 |
| Poor speech 0.3746001891830093 1.41239794708027 0.1578328206066417 1.0 0.5068756858044672 95 Q05639,Q01105,P55263,Q9HD42,Q7RTS9,Q8N3U4,Q96N67,Q71SY5,Q9BRT2,Q9Y487,Q10713,P55011,O95155,Q15233,Q9UBB6,Q9H9S5,P08236,Q96CU9,P35222,Q96N66,Q14139,Q9UQE7,O00584,Q6PJT7,Q9NUQ7,O60826 26 |
| Perseveration 0.6518216602262707 1.4119804997044594 0.1579557030242344 1.0 0.506919994443106 7 Q93009,Q15233,P61916 3 |
| Tinnitus 0.5231965656600054 1.4093635473876762 0.1587276970664395 1.0 0.5083443199639864 16 Q9NR77 1 |
| Intestinal polyp 0.4870526129744393 1.4088396858219563 0.1588825773473916 1.0 0.5084899014692348 22 P20585,O60566,P35222,Q15437,P42892,P31749 6 |
| Broad palm 0.6508453892325237 1.4076286121934087 0.1592410704928215 1.0 0.5092864794082187 7 Q7RTS9 1 |
| Subacute progressive viral hepatitis 0.755812409468624 1.4050182152190922 0.1600158618210363 1.0 0.5103594439823994 4 P11717,Q9NWH9 2 |
| Viral hepatitis 0.755812409468624 1.4050182152190922 0.1600158618210363 1.0 0.5103594439823994 4 P11717,Q9NWH9 2 |
| Spastic tetraparesis 0.4672805064291809 1.404364348397252 0.1602103815438362 1.0 0.5106293847971242 28 Q7RTS9,P07602 2 |
| Abnormality of the pharynx 0.3924502858543987 1.4001183725547326 0.1614778741594074 1.0 0.5134320975873938 56 P16278,O15344,Q7RTS9,P15586,Q86YV9,P08236,P54802,O00192,P00813,P29372 10 |
| Cutaneous syndactyly 0.6063103930641799 1.3995698463915032 0.1616421688767715 1.0 0.5134320975873938 9 P27635,P98175,Q9H4L7,Q9Y2U8,Q9Y619 5 |
| Abnormality of the musculature of the limbs 0.3422163893637176 1.3960754470544252 0.1626917766596405 1.0 0.5164130369790639 173 Q99720,Q7RTS9,Q8TD16,P02545,P06753,O75298,Q13126,P39210,Q9HC21,Q00796,Q9NR77,O60313,Q8N0X7,Q9Y487,Q7Z406,Q9BQT8,Q14203,Q14739,Q96RR1,Q13049,P50336,P07602,Q15046,P00846,Q7LG56,Q9Y4W6,Q96F07,Q9H9S5,P17480,P31749,P46783,Q14331,Q8NAT1,P42356,P07196 35 |
| Difficulty running 0.5480461585112767 1.394533939468697 0.1631564279987181 1.0 0.5169982305913028 14 Q9BPX6,Q9H9S5,Q8TD16,P07196 4 |
| Lipodystrophy 0.4294249799439401 1.3943567562507773 0.1632098997799529 1.0 0.5169982305913028 37 P04066,Q9Y487,P28070,Q03252,P02545,O75431,P09493,O75844 8 |
| Mitochondrial inheritance 0.6467617069837357 1.389416887413232 0.1647060180257891 1.0 0.520871920707802 7 P03886 1 |
| Abnormal conjunctiva morphology 0.4606212478156852 1.3892095490945322 0.1647690388294531 1.0 0.520871920707802 29 P04066,P02786,P28070,Q9NZ08,Q15437,P10619,P06280 7 |
| Encephalocele 0.490235506371917 1.3881246653470267 0.1650990870084037 1.0 0.5213865842268639 18 Q15051,P07942,O15078,O43505,Q9H9S5,Q6ZXV5 6 |
| Decreased methylcobalamin 0.7515126845085107 1.3879369633541372 0.1651562410118234 1.0 0.5213865842268639 4 Q9NUN5 1 |
| Mitochondrial myopathy 0.4320349430417114 1.385801693631441 0.1658074651017407 1.0 0.5228669492016701 35 P03886,O60313,O43676,P00846,Q7LG56,O75306,O75251,O75380,Q96RR1,Q96CU9 10 |
| Functional motor deficit 0.3389602902184045 1.3856617902283606 0.1658502008012183 1.0 0.5228669492016701 167 Q99720,Q7RTS9,Q8TD16,Q71SY5,P06753,O75298,O14773,Q00796,Q9NR77,O75787,Q9BPX6,Q96RR1,P03886,P20700,P07602,P23786,P00846,Q96F07,Q9H9S5,Q9Y2R0,O43681,Q8NFF5,P07196,Q9GZY8 24 |
| Vascular neoplasm 0.4283424978534853 1.3852619014051608 0.1659723988350498 1.0 0.5228974490755776 37 Q9UHX1,O60826,Q15437,O96028,Q9UBM7,P10619 6 |
| Exaggerated cupid s bow 0.6456845245330697 1.3846109753580182 0.1661714536485021 1.0 0.5231698815071745 7 Q71SY5,Q969N2,Q96KP1 3 |
| Eeg with spike wave complexes 0.5188926820013151 1.3835605771479056 0.1664930465904617 1.0 0.5234451273738947 16 O75503,P11166,Q969N2,Q14108 4 |
| Abdominal pain 0.3737706914813628 1.3832252054378935 0.1665958234478111 1.0 0.5234451273738947 89 Q14108,Q70HW3,Q15056,Q13423,P23786,Q9NZ08,Q9NWH9,P14174,O43707,Q01082,Q14566,P42892,Q8N1F7,Q969N2,P06280,P50336,O14936 17 |
| Abnormality of pelvic girdle bone morphology 0.3378719017358936 1.3824058917435198 0.1668471080786071 1.0 0.5234451273738947 165 Q8IWS0,Q7RTS9,Q8IZA0,Q8N3U4,Q8TD16,P02545,P06753,Q8N3R9,Q9Y366,Q9UBM7,Q9Y619,P16278,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,O75718,O95831,Q14739,P00813,Q5H8A4,O00754,P55011,O95155,Q15056,Q03252,Q9H9S5,P08236,O75431,P51798,O75530,O96028,O15287,P31749,Q9UQE7,O15228,Q9NQT5,Q9NUQ7,Q93009,Q96HY6,O60826,O75844,O75175,Q9UIG0 44 |
| Focal white matter lesions 0.6026996366836616 1.3821204265993638 0.1669347275162711 1.0 0.5234451273738947 9 O00584,Q9H2P0,Q7LG56,Q9P0J1,Q96RR1,O00443 6 |
| Thyroiditis 0.5731003814077297 1.3794417571644562 0.1677585921008035 1.0 0.5256737542093285 11 P00813 1 |
| Skin tags 0.4839596091591023 1.3757398054167405 0.1689022035118497 1.0 0.5267708320265541 21 O96028,O60826,Q9UHX1,P31749 4 |
| Distal sensory impairment 0.4052312707548973 1.371928328636722 0.1700857505368189 1.0 0.5293242340923042 46 Q9NR77,O95831,P02545,Q71SY5,P39210,P54802,Q96RR1,P07196 8 |
| Furrowed tongue 0.5783426591849382 1.3716367569266126 0.1701765452407795 1.0 0.5293242340923042 10 Q71SY5,Q15437 2 |
| Aplasia hypoplasia of the nipples 0.4874695567027615 1.370219216352359 0.1706184814761115 1.0 0.5296123670534723 18 O96028,Q9UQE7,O60826,P10586 4 |
| Confusion 0.4861773815147944 1.370031306940752 0.1706771290979487 1.0 0.5296123670534723 19 O00754,P11166,O96008,Q9NZ08,P05067 5 |
| Abnormal brainstem mri signal intensity 0.4746887844013464 1.3694168514396003 0.1708690096677578 1.0 0.5296123670534723 25 P03886,O43676,O95831,O75380,Q96CU9 5 |
| Corpus callosum atrophy 0.5435532451403282 1.369380443989624 0.1708803839600019 1.0 0.5296123670534723 14 O75503,P20700,O00754 3 |
| Ventricular escape rhythm 0.713869970265042 1.3692132127789762 0.1709326370535653 1.0 0.5296123670534723 5 P50402,Q8WXH0,P02545 3 |
| Clonic seizure 0.6422199512290804 1.3691480812445973 0.17095299130196 1.0 0.5296123670534723 7 Q01082,P07602 2 |
| Severe muscular hypotonia 0.431512398327373 1.3680498368874636 0.1712964769333056 1.0 0.5296790155979504 34 Q01105,P80404,Q8TD16,O43505,O95831,P02545,P06753,Q9H9S5,O75380,Q5H8A4,Q9NWS8,Q9GZY8 12 |
| Abnormality of the umbilical cord 0.599776727649235 1.367986014828427 0.1713164537214804 1.0 0.5296790155979504 9 O60826,O75844 2 |
| Delayed menarche 0.6792268873319636 1.3671677850364612 0.1715727203959518 1.0 0.5301186380850985 6 O75844 1 |
| Prenatal maternal abnormality 0.5541639270453441 1.3580566764753066 0.174445700787575 1.0 0.5375657636338602 13 P02545,Q01082,O43772 3 |
| Hypotension 0.4649869962688798 1.3563353407475287 0.1749924958652475 1.0 0.5388933918394999 27 P20700,P07602,Q13423,O43772,O43681 5 |
| Abnormality of carpal bone ossification 0.710456001081369 1.3552143292415966 0.175349280621629 1.0 0.5389118711167737 5 Q96L58,Q8WVQ1 2 |
| Skin pit 0.5606774489998009 1.3520965255092865 0.1763444386802599 1.0 0.5405492127619842 12 O96028 1 |
| Slow pupillary light response 0.7091381660523551 1.349809543824892 0.1770770827191201 1.0 0.5420798441342235 5 Q9NR77 1 |
| Abnormal pupillary light reflex 0.7091381660523551 1.349809543824892 0.1770770827191201 1.0 0.5420798441342235 5 Q9NR77 1 |
| Multifactorial inheritance 0.5522259572957823 1.347539245097103 0.1778066227289805 1.0 0.5429937303349498 13 P11274,P42892 2 |
| Iris coloboma 0.4176312207670543 1.346583243138295 0.1781144939686934 1.0 0.5429937303349498 40 Q9UHX1,O60826,O15078,Q8WXW3,O43505,Q8NAT1,Q01082,Q9H9S5,O96028,Q9UBM7,Q96EK5 11 |
| Aplasia hypoplasia involving the metacarpal bones 0.4592979495595609 1.3459587371116493 0.1783158242703193 1.0 0.5429937303349498 28 Q8WVQ1,Q9NX62,Q96L58,Q7RTS9,Q14739,Q9Y448,Q9Y366 7 |
| Hypoplastic pubic rami 0.7080784346402256 1.345462923791619 0.1784757867556465 1.0 0.5429937303349498 5 O96028 1 |
| Rib segmentation abnormalities 0.7080784346402256 1.345462923791619 0.1784757867556465 1.0 0.5429937303349498 5 O96028 1 |
| Abnormality of abdominal situs 0.7080784346402256 1.345462923791619 0.1784757867556465 1.0 0.5429937303349498 5 O96028 1 |
| Edema of the dorsum of hands 0.6825048063718716 1.344889425887825 0.1786609454878713 1.0 0.5429937303349498 2 Q9Y5S9 1 |
| Edema of the dorsum of feet 0.6825048063718716 1.344889425887825 0.1786609454878713 1.0 0.5429937303349498 2 Q9Y5S9 1 |
| Teratoma 0.7625803391263763 1.344339746195324 0.1788385483944576 1.0 0.5431782577706175 3 P20585 1 |
| Urinary incontinence 0.4075975876911236 1.343146710069623 0.1792244731692791 1.0 0.5434286296246463 44 Q99720,P07602,O43681 3 |
| Atrophy degeneration involving the spinal cord 0.6161498342624477 1.343001526636448 0.1792714795147989 1.0 0.5434286296246463 8 Q96RR1,P07196 2 |
| Heart block 0.4772902806145089 1.343000513881467 0.179271807448802 1.0 0.5434286296246463 22 P49748,P23786,O43772,P02545,P06280 5 |
| Abnormality of the autonomic nervous system 0.3833298328015955 1.340427377966507 0.1801064398135754 1.0 0.5451583742062931 60 P20700,P07602,O15078,Q96RR1,P42892,O43681,O00192,Q9UBM7,P41440,Q96EK5,P06280,P50336 12 |
| Enlarged ovaries 0.7067508077839504 1.3400170421134752 0.1802398044287738 1.0 0.5451583742062931 5 Q15437 1 |
| Vertical supranuclear gaze palsy 0.5582886806720211 1.3394353015983425 0.1804290035569784 1.0 0.5451583742062931 12 Q96RR1,Q969N2,O15118,P61916 4 |
| Bilateral sensorineural hearing impairment 0.4538274854658028 1.3386318480566464 0.1806905527998443 1.0 0.5455938913975807 29 P03886,P07602,Q7Z406,Q01082,O43681,Q96RR1 6 |
| Periodic paralysis 0.6797583081570953 1.3326211631292952 0.1826561565553537 1.0 0.5506313137096684 2 P16930 1 |
| Progressive external ophthalmoplegia 0.5369801097724705 1.332530878549857 0.1826858016271035 1.0 0.5506313137096684 14 P03886,Q96RR1,O60313,Q7LG56 4 |
| Impaired social interactions 0.3880456533825768 1.3323568580633052 0.1827429515675582 1.0 0.5506313137096684 52 P03886,P11166,Q9UHX1,O43676,Q96N67,O75251,Q01082,O75380,Q96RR1,Q96CU9,Q9GZY8 11 |
| Wide intermamillary distance 0.471547069513524 1.331482564208075 0.1830302783410031 1.0 0.5506313137096684 24 Q15555,P23786,O14678,Q9Y448,O75530,Q9UBM7 6 |
| Elevated serum acid phosphatase 0.7371901454593522 1.331002173111826 0.1831882958887771 1.0 0.5506313137096684 4 P07602 1 |
| Osteopenia 0.3696013434746842 1.3302451692814317 0.1834375062345441 1.0 0.5507172347651056 76 O00754,Q14108,P07602,Q96L58,Q9Y487,O75844,O75718,P02545,Q9Y448,Q13126,O75431,O75530,Q969N2 13 |
| Osteolytic defects of the distal phalanges of the hand 0.7369872621028775 1.3301953941374625 0.1834539013162004 1.0 0.5507172347651056 4 O75844,O75431 2 |
| Hypoplasia of the frontal lobes 0.5906096104271652 1.3236094142484451 0.1856327969475879 1.0 0.5543750595790421 9 Q9UBM7,P35606 2 |
| Left ventricular hypertrophy 0.4418885284035558 1.32098406728357 0.1865066767762311 1.0 0.5561491353456541 31 P03886,O75787,P00403,Q7LG56,Q9H9S5,P10253,O75431,P78536,Q96RR1,P06280,P13807 11 |
| Urogenital sinus anomaly 0.7564076574464805 1.3200649861029778 0.1868133217419711 1.0 0.5561491353456541 3 P51809 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.6681226130266733 1.3199342748456224 0.1868569628645318 1.0 0.5561491353456541 6 P07196,Q7LG56 2 |
| Hypermethioninemia 0.7018525222620334 1.319920616176666 0.1868615235768664 1.0 0.5561491353456541 5 Q6PGP7,P16930,P55263 3 |
| Abnormality of the endometrium 0.5679465176138698 1.3189727199224774 0.1871782327696585 1.0 0.5561491353456541 10 P20585,Q15437 2 |
| Abnormality of the synovia 0.3672555481419935 1.3181669521469987 0.1874477658263933 1.0 0.5562386767530331 94 Q7RTS9,Q8TD16,P02545,P06753,Q9Y366,Q9UBM7,P16278,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,O75718,P55011,Q03252,Q9H9S5,P08236,O96028,Q9UQE7,O75844 19 |
| Erlenmeyer flask deformity of the femurs 0.7336330685769409 1.3168565936079983 0.1878866985432674 1.0 0.5567065131415984 4 P07602,P51798 2 |
| Lacticaciduria 0.6102301946483952 1.315552701967453 0.1883242174862476 1.0 0.5567065131415984 8 P03886 1 |
| Abnormal circulating tyrosine concentration 0.7546703296703305 1.313232814989555 0.1891045096323176 1.0 0.5583028311698729 3 Q9NVS9,P16930 2 |
| Abnormal nephron morphology 0.3698215198959731 1.3096899767818244 0.1903007357352431 1.0 0.5607657063802629 69 P03886,Q14108,Q15056,P23786,P00846,Q9NZ08,O75306,O43707,P02545,Q03252,O75431,Q8N1F7,P00813,Q9NQH7,P06280 15 |
| Progressive hearing impairment 0.5064802776226686 1.3089745491993647 0.1905429720014488 1.0 0.5611236951145329 16 P03886,Q96RR1,O60313,Q7Z406 4 |
| Hemangiomatosis 0.7529183199647174 1.3063430795494382 0.1914359132933367 1.0 0.5626835478014774 3 P48735 1 |
| Lymphangioma 0.7529183199647174 1.3063430795494382 0.1914359132933367 1.0 0.5626835478014774 3 P48735 1 |
| Visceral angiomatosis 0.7529183199647174 1.3063430795494382 0.1914359132933367 1.0 0.5626835478014774 3 P48735 1 |
| Posterior pituitary dysgenesis 0.752205066697752 1.303538296878996 0.1923910506064197 1.0 0.5647765080025473 3 Q9UHX1 1 |
| Hip pain 0.6977674201381512 1.303156858361499 0.192521215345953 1.0 0.5648018230509114 5 O75844 1 |
| Hypoplastic vertebral bodies 0.6638113448892226 1.301583928908906 0.1930586565956347 1.0 0.5656914404318263 6 P16278 1 |
| Agitation 0.4231784682150615 1.2998854362961747 0.19364023733647 1.0 0.5656914404318263 34 Q68CQ7,Q15165,P52732,Q14203,Q01082,P42892,P05067 7 |
| Axillary pterygium 0.6723427629771995 1.2995025624598888 0.1937715146432244 1.0 0.5656914404318263 2 O15111 1 |
| Aplasia cutis congenita over the scalp vertex 0.6723427629771995 1.2995025624598888 0.1937715146432244 1.0 0.5656914404318263 2 Q14692 1 |
| Congenital localized absence of skin 0.6723427629771995 1.2995025624598888 0.1937715146432244 1.0 0.5656914404318263 2 Q14692 1 |
| Acral blistering 0.6723427629771994 1.2995025624598875 0.1937715146432248 1.0 0.5656914404318263 2 Q9H4L7 1 |
| Blistering by anatomical location 0.6723427629771994 1.2995025624598875 0.1937715146432248 1.0 0.5656914404318263 2 Q9H4L7 1 |
| Pelvic girdle muscle weakness 0.5640923290134665 1.2994244197918594 0.193798315723578 1.0 0.5656914404318263 10 Q9H9S5,Q13049 2 |
| Episodic vomiting 0.5429795597337361 1.2973013886027511 0.194527506805872 1.0 0.5667519273522805 13 P03886,P22695,P49748,P00846,P00403 5 |
| Papilloma 0.5571043374361059 1.2965695969213316 0.1947793190411324 1.0 0.5667748876544412 11 P20585,P16615,Q15437 3 |
| Temperature instability 0.6059800300640936 1.2958335635818092 0.1950328319667476 1.0 0.5671574281285833 8 P20700,P07602,Q8N3U4,Q9HC21 4 |
| Recurrent hand flapping 0.7282220390217113 1.2953368110138486 0.1952040658253735 1.0 0.5673003714137028 4 P55795,Q9UNW9,O95714 3 |
| Cholecystitis 0.6056546052786165 1.2943233758600523 0.195553745378386 1.0 0.5675984412543312 8 P07602 1 |
| Optic nerve hypoplasia 0.4732434485855926 1.29401747997851 0.1956593830334112 1.0 0.5675984412543312 20 Q9UHX1,Q9Y448,Q9H9S5,Q9NXR1,P07196,O14936 6 |
| Jerky head movements 0.7495788020448367 1.2932112817877326 0.1959379947704016 1.0 0.5675984412543312 3 P11166 1 |
| Hypolipidemia 0.6706948640483337 1.2921446623360793 0.1963070513795135 1.0 0.5675984412543312 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.6706948640483337 1.2921446623360793 0.1963070513795135 1.0 0.5675984412543312 2 Q9Y6B6 1 |
| Mixed demyelinating and axonal polyneuropathy 0.6943148338994203 1.2889870124407072 0.1974026017741195 1.0 0.5697701182884058 5 P03886 1 |
| Dysgenesis of the cerebellar vermis 0.6698709145839009 1.288466033523344 0.1975837852514119 1.0 0.5699390751479275 2 Q10713 1 |
| Abnormality of the foot musculature 0.6695962647624233 1.2872398747688676 0.1980106928831686 1.0 0.5706781628924155 2 O14979 1 |
| Tremor 0.3391299430304965 1.2860257819532055 0.1984340639805486 1.0 0.5706938493968332 182 Q99720,Q14108,O75027,O14773,O75503,Q9NR77,P11166,Q7Z406,O75787,Q14203,O95831,Q9BPX6,Q96RR1,Q9BUB7,P32929,Q6DKK2,O14936,P03886,P20700,P07602,Q15056,Q8WXW3,P00846,Q7LG56,Q96F07,Q9Y448,P41440,O75569,Q01082,O43681,Q9NQH7,P07196 32 |
| Aplasia hypoplasia of the thymus 0.5024695382796422 1.2848280616335352 0.1988523739854204 1.0 0.5711167996973108 16 O00192,P00813 2 |
| Melanocytic nevus 0.5478754064725467 1.2841760440734196 0.1990803652673864 1.0 0.5713888727138008 12 Q01082,Q15437,O75530 3 |
| Cherry red spot of the macula 0.5823584143922178 1.2836165946775364 0.1992761404267735 1.0 0.5713888727138008 9 P10619,P07602 2 |
| Resting tremor 0.4701636182440116 1.2835027956117504 0.1993159807766453 1.0 0.5713888727138008 21 P07602,O75787,Q7LG56,Q9BPX6,Q96RR1 5 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6587631853465443 1.2800914888974653 0.2005129616178236 1.0 0.5735147261445348 6 P50402,Q8WXH0,Q13642,P02545 4 |
| Abnormal dura mater morphology 0.7461538461538471 1.2797450851561674 0.2006348027763289 1.0 0.5735147261445348 3 Q9NXR1,Q8N3U4 2 |
| Generalized lipodystrophy 0.7240529054749062 1.278756167780457 0.2009829336126296 1.0 0.5736902288070578 4 O75844,O75431 2 |
| Unusual fungal infection 0.5465868527928848 1.2773317664734716 0.2014851431204682 1.0 0.5741706800548657 12 P00813,P02786,Q9Y448,P42224 4 |
| Hypokinesia 0.5392891512161867 1.2772275488294889 0.2015219236431 1.0 0.5741706800548657 13 Q96RR1,Q9Y3D3,P06753,O95831 4 |
| Orofacial dyskinesia 0.6018541184216804 1.2766834785220744 0.2017140166072746 1.0 0.5743658303762287 8 Q9BPX6 1 |
| Proximal amyotrophy 0.5265148181621326 1.273758319012547 0.2027490810752206 1.0 0.5766768513162985 14 P50402,Q8WXH0,P35637,P02545,Q16637,Q9H9S5,Q92734,Q13642,P07196 9 |
| Exercise induced muscle cramps 0.6571772680051267 1.2733385752705788 0.2028979238007635 1.0 0.5766768513162985 6 P53985 1 |
| Pedal edema 0.6205732639147084 1.2723878932769597 0.2032353334873433 1.0 0.5772827596061642 7 P04062,Q14108,Q96L73,Q9Y5S9 4 |
| Early onset of sexual maturation 0.3971280715268865 1.2714695218326717 0.2035616635341388 1.0 0.5773319748756016 45 P55011,Q15056,Q13423,Q9UIG0,P48735,P02545,Q93009,Q8N3R9,O96028,Q9UBM7,Q969N2,O14936 12 |
| Abnormal meningeal morphology 0.4570022275051608 1.270983051622423 0.2037346781688038 1.0 0.5773319748756016 26 Q15904,Q9UHX1,Q8TAA9,O15078,Q8N3U4,Q10713,Q9H9S5,Q9NXR1,O00192,Q9NQH7,Q14683,Q14738 12 |
| Amelogenesis imperfecta 0.7220969930814651 1.2709778954951785 0.2037365125344576 1.0 0.5773319748756016 4 Q6P4Q7 1 |
| Increased circulating antibody level 0.486435935783949 1.270941080781106 0.2037496102423039 1.0 0.5773319748756016 17 P00813,P28070,P78536 3 |
| Abnormal light and dark adapted electroretinogram 0.6004234081853967 1.270041535082069 0.2040698354247081 1.0 0.5775350336288786 8 P00846,P50897 2 |
| Abnormal full field electroretinogram 0.6004234081853967 1.270041535082069 0.2040698354247081 1.0 0.5775350336288786 8 P00846,P50897 2 |
| Abnormal thalamic size 0.7208024182467433 1.2658298520635778 0.2055740050013925 1.0 0.5804757616042568 4 P11166,Q9H9S5,Q9UPT5 3 |
| Auditory hallucinations 0.7425242910394708 1.265476879454495 0.2057004313467691 1.0 0.5804757616042568 3 Q9NWW5 1 |
| Depletion of mitochondrial dna in muscle tissue 0.6551238948496985 1.264594773950892 0.2060166274221422 1.0 0.5804757616042568 6 Q96RR1,Q9UBX3 2 |
| Morphological abnormality of the corticospinal tract 0.4711252646174536 1.264133043903618 0.2061822780655069 1.0 0.5804757616042568 18 Q13045,O00400,Q15056,P35637,P00846,Q14203,P11177,O75298,Q9UIG0 9 |
| Photoreceptor layer loss on macular oct 0.6643779181543483 1.263948414205618 0.2062485430322564 1.0 0.5804757616042568 2 P04439 1 |
| Abnormal optical coherence tomography 0.6643779181543483 1.263948414205618 0.2062485430322564 1.0 0.5804757616042568 2 P04439 1 |
| Abnormal heart rate variability 0.719703215168963 1.2614588996975131 0.2071435589756829 1.0 0.5812507273633145 4 Q14683,P07602,Q8N3U4 3 |
| Hip subluxation 0.6179866371454328 1.260814218930957 0.2073757896597823 1.0 0.5812507273633145 7 Q9UBM7,Q03252 2 |
| Abnormal mitochondrial shape 0.6874451727591875 1.2607912822805596 0.2073840555128847 1.0 0.5812507273633145 5 Q9GZY8 1 |
| Combined immunodeficiency 0.5774481775451936 1.259800288364793 0.2077414157472978 1.0 0.5814121291443836 9 P00813,Q9Y448 2 |
| Abnormality of the ankles 0.3903808182098388 1.2595908757919776 0.2078169887042869 1.0 0.5814121291443836 47 O00754,P07602,Q15056,Q8N0X7,Q9HD42,O75844,Q7RTS9,O75787,P02545,P06753,O75298,Q969N2 12 |
| Abnormal pupillary function 0.597766573828491 1.257705829959305 0.2084981630650588 1.0 0.5829506091888723 8 Q9NR77 1 |
| Abnormal auditory evoked potentials 0.6168879222232833 1.2558977073679105 0.2091530599050748 1.0 0.5840951138094247 7 P20700,P07196,P07602 3 |
| External ophthalmoplegia 0.4642573117593638 1.254834390764881 0.209538885287152 1.0 0.5844701080008377 22 P03886,O60313,Q7LG56,Q14331,Q96RR1,Q9GZY8 6 |
| Abnormalities of placenta or umbilical cord 0.4837923819910492 1.2544061338080723 0.2096944242137763 1.0 0.5845530829762561 17 P16278,P02545,Q01082,O60826,O75844 5 |
| Bone pain 0.4640527720167532 1.253448790724339 0.2100424245532612 1.0 0.5851721504190678 22 Q14108,P07602,Q9Y2U8,P51798,P48735 5 |
| Abnormality of pain sensation 0.4377205138857332 1.2520716623850454 0.2105437524122533 1.0 0.5862173861352553 30 P31040,Q13045,Q9NR77,O15269,Q8NCH0,O95714,O95831,P39210,P07196,P17480,Q00796 11 |
| Abnormality of salivation 0.3922680202689725 1.2512499774125392 0.2108432895280474 1.0 0.5866998601418182 46 Q9NR77,P55795,P55011,Q15233,Q8N0X7,Q68CQ7,P15586,O75787,Q14739,Q14203,Q03252,Q15165,Q01082 13 |
| Abnormal duodenum morphology 0.4964362213362943 1.248471258070309 0.2118585276619109 1.0 0.5882019774355025 16 O60566,Q8NCH0,P98175,O75419,O15287,P78536 6 |
| Brachydactyly 0.3628567211606821 1.246055722523311 0.2127439386897505 1.0 0.5899943839064447 82 Q13045,Q7RTS9,P02545,Q9Y366,Q9UBM7,P11166,Q9UHX1,Q8WVQ1,Q8N0X7,O95831,Q14739,Q13868,Q9Y3D3,O95155,Q9UQE7,Q9NX62,Q13555,Q15437,Q96RK4,O60826 20 |
| Fatigable weakness of bulbar muscles 0.4959417593232921 1.2454900836678136 0.2129516583538167 1.0 0.5899943839064447 16 Q68CQ7,P35637,Q15165,Q14203,P06753,Q92804,P43243,Q9Y5P6 8 |
| Diffuse white matter abnormalities 0.5472427558800232 1.2453745036648936 0.2129941208313657 1.0 0.5899943839064447 11 P16278,Q9H9S5,O14936 3 |
| Prematurely aged appearance 0.3965912101293682 1.2430499591638269 0.2138494241097972 1.0 0.5915227820465642 44 Q9Y487,Q03252,P02545,Q13126,O75431,O75844 6 |
| Skeletal muscle hypertrophy 0.3796450098541536 1.2423653266510886 0.2141018025560102 1.0 0.591868576131933 50 Q9NR77,O00754,P16278,P04066,Q15056,Q14331,Q15437,P02545,Q8NAT1,Q9H9S5,P10253 11 |
| Abnormal visual electrophysiology 0.3761686247506042 1.2412098524563913 0.2145282361119198 1.0 0.5923661808410894 57 P07602,O15078,P50897,P00846,O15484,O43681,O75503,Q13049,Q9GZY8 9 |
| Abnormal saccadic eye movements 0.4528140002448336 1.241186796924126 0.2145367510986773 1.0 0.5923661808410894 26 Q5THJ4,Q8IV08,O75306,Q10713,Q9Y4W6,O14773,P51798,P04062 8 |
| Progressive pes cavus 0.6821998904796833 1.2392639206510123 0.2152477754388533 1.0 0.5938635630210296 5 Q12768,O00400,O75298 3 |
| Capillary malformation 0.5077788574490644 1.2384886987572703 0.2155349099276999 1.0 0.5940633015622905 15 Q71SY5,Q9UQE7,Q9UHX1,Q15056 4 |
| Limitation of movement at ankles 0.7129267430743931 1.2345172659972612 0.2170102169348402 1.0 0.5964418602876077 4 O75844 1 |
| Abnormal foot bone ossification 0.7342115931464934 1.232812308809756 0.2176457979634192 1.0 0.5974010768671052 3 Q8WVQ1 1 |
| Malar prominence 0.6566877231529751 1.2296488107540948 0.2188286433871384 1.0 0.5999390594808451 2 Q9Y4W2 1 |
| Areflexia 0.3590558819104062 1.227804287883198 0.2195204456514641 1.0 0.6014808437160104 97 P51114,Q8TD16,Q71SY5,P02545,P06753,P10253,P39210,Q9NR77,O60313,Q7Z406,Q9BQT8,O75787,O95831,Q9H6K4,Q96RR1,Q13049,Q15046,O43505,Q7LG56,Q9H9S5,P41440,Q9NWS8,Q8NAT1,Q5TAQ9,P07196 25 |
| Recurrent gastroenteritis 0.7105459445019984 1.2250543995794063 0.2205547247208175 1.0 0.6032476785036133 4 P78536 1 |
| Gaze evoked nystagmus 0.5701879386838254 1.224570411146582 0.2207371219607139 1.0 0.6033914151479045 9 Q9Y4W6,P41440,Q10713 3 |
| Poor gross motor coordination 0.678253943749087 1.223071727662037 0.2213026059675582 1.0 0.6038870648910463 5 O75503 1 |
| Lymphedema 0.5293392562653604 1.2230566501206754 0.2213083003033036 1.0 0.6038870648910463 13 Q9Y2U8,P52732,Q14739,P08236,P06280,P31749 6 |
| Thin clavicles 0.7310879930807131 1.2205446243303917 0.2222584838497623 1.0 0.6050666628483227 3 O75844 1 |
| Transient ischemic attack 0.5896641728715691 1.220077844003123 0.2224353667005323 1.0 0.6050666628483227 8 O75844,P06280 2 |
| Ovoid vertebral bodies 0.5691953856516313 1.2197531817058032 0.2225584544211805 1.0 0.6050666628483227 9 P16278,Q96L58,P54802 3 |
| Chorea 0.3594322022433759 1.2187794245502006 0.2229279229089331 1.0 0.6050666628483227 93 P03886,P11166,Q99720,Q86VD7,Q96N66,P07602,P55011,Q9HD42,P00846,O75306,Q9BWD1,Q71SY5,O43681,Q9BPX6,Q9NUQ7,O14936 16 |
| Cachexia 0.4604901034659476 1.2186604234564868 0.2229731050637977 1.0 0.6050666628483227 21 Q99720 1 |
| Horizontal nystagmus 0.4550710668007554 1.217442005519224 0.2234360892137652 1.0 0.6054271175372403 24 P20700,P00846,P07602,O95831 4 |
| Atrioventricular canal defect 0.5682737192995593 1.2152798690801905 0.2242593671706609 1.0 0.6070003154717272 9 Q12768,Q9UHX1,Q9UBM7,O75419,O60826 5 |
| Nephronophthisis 0.6071376050864011 1.2122622716732778 0.2254120010753284 1.0 0.6090055633703786 7 Q15051,O15078 2 |
| Abnormality of malar bones 0.3660657993798324 1.211402799243028 0.2257410670832391 1.0 0.6094595527704435 65 O00754,O60566,Q8WVQ1,Q15233,Q96L58,Q9HC07,Q9Y487,Q14739,P02545,O95831,O00192,Q969N2,P11274,O75175 14 |
| Aplasia hypoplasia of the pubic bone 0.6425705804015915 1.211138471465575 0.2258423391157098 1.0 0.6094595527704435 6 O96028 1 |
| Abnormality of the spinal cord 0.3597998280099559 1.210400754017537 0.2261251527147245 1.0 0.6097452438152307 81 O75298,O00192,Q9HC21,P05067,P16278,O00400,Q9UHX1,Q96L58,Q10713,Q96RR1,Q5H8A4,P20700,O00754,Q15056,O15078,Q9Y2U8,Q7LG56,P34059,Q9H9S5,O15287,O96028,P31749,P07196,Q9UIG0 24 |
| Preaxial hand polydactyly 0.5269751718374956 1.2101779151315024 0.2262106305869287 1.0 0.6097452438152307 13 O96028,Q9UHX1 2 |
| Basal ganglia cysts 0.6062394158420104 1.2082426170796454 0.2269539535400111 1.0 0.6112668780167301 7 P00846 1 |
| Hyperlordosis 0.3744534403431837 1.205906454503642 0.2278535616374726 1.0 0.612303141781975 54 P16278,P04066,Q8WVQ1,Q15056,Q7RTS9,Q8TD16,Q14331,P02545,P06753,Q9Y448,Q9H9S5,Q96HY6,P11274 13 |
| Abnormal placenta morphology 0.5662797109835273 1.205601645649193 0.2279711243726958 1.0 0.612303141781975 9 P16278,P02545,O75844,Q01082 4 |
| Retinal detachment 0.458530040457587 1.2055105099367251 0.2280062831979392 1.0 0.612303141781975 21 Q13045,Q8NCH0,P31749,O43505,P52732,Q14331,Q8NAT1,Q9H9S5,O15484,P04439,P35222 11 |
| Cellulitis 0.6738544210426334 1.205022428077642 0.228194643787813 1.0 0.612303141781975 5 P02545 1 |
| Opisthotonus 0.4532508148474492 1.204823781524717 0.2282713372091596 1.0 0.612303141781975 24 Q99720,P07602 2 |
| Aplasia hypoplasia of the breasts 0.565935572372152 1.2039312887779496 0.2286161371700865 1.0 0.6126754264298686 9 P02545,Q9Y619,O75419 3 |
| Noncompaction cardiomyopathy 0.7263665926106198 1.2020101612159002 0.2293595912471175 1.0 0.6136062294331349 3 Q15233 1 |
| Protuberant abdomen 0.6400358711065857 1.2003468559643096 0.2300046592943243 1.0 0.6149688507244196 6 Q7RTS9 1 |
| Ankle clonus 0.5251098396328104 1.2000147852294474 0.2301335983235992 1.0 0.6149688507244196 13 Q969N2,O75787,O75298,P07602 4 |
| Abnormal heart valve morphology 0.3586372839374303 1.1977244742628743 0.2310242981085142 1.0 0.6169637999892427 87 P02545,P06753,O00192,P06280,P16278,Q9UHX1,Q8NCH0,Q96L58,Q6ZXV5,Q9BUB7,Q6PGP7,Q5H8A4,O95155,Q15056,Q15233,P08236,O75431,P51798,O15287,O96028,Q9UQE7,Q01082,O60826,O75844,Q9UIG0 25 |
| Abnormal circulating protein concentration 0.328545544368668 1.1974128432438684 0.2311456801767315 1.0 0.6169637999892427 170 Q86VD7,Q9HC07,O43772,P14174,P02545,P06753,P10253,P39210,Q9Y6N5,P49748,Q9Y487,Q7Z406,P53985,O95831,Q6ZXV5,Q9BPX6,Q96RR1,Q13049,Q15056,P23786,O43505,Q7LG56,O43707,Q9H9S5,P09493,Q8N1F7,P41440,Q9NWH9,Q14331,Q8NAT1,P15291,Q8NFF5,P07196 33 |
| Slow decrease in visual acuity 0.5313936653291864 1.1965601018717755 0.2314780594333736 1.0 0.6172350768283031 12 P03886,P00846,O75306,P35222,O95140,P31749 6 |
| Dyschromatopsia 0.6033518453613411 1.195320505897883 0.2319618310107163 1.0 0.6180771953594029 7 Q9Y4W6,O60313,Q9H6K4 3 |
| Quadriceps muscle weakness 0.6030755040424663 1.194083918652277 0.2324451431178771 1.0 0.6186069162450758 7 Q96RR1,Q13049 2 |
| Abnormality of vitamin b12 metabolism 0.5239675025260245 1.1937903383480757 0.2325599919690439 1.0 0.6186069162450758 13 P41440,Q9NUN5 2 |
| Abnormal hand bone ossification 0.6381710461151424 1.1924082345918037 0.2331012130272665 1.0 0.6192404973876068 6 Q96L58,Q8WVQ1 2 |
| Abnormality of skin physiology 0.3539311860171851 1.192373194937267 0.2331149458837629 1.0 0.6192404973876068 103 P22830,Q8NCH0,O00192,P49748,P28070,P02786,Q9NZ08,P16615,P52732,P14174,Q92542,Q9Y448,P00813,Q9UBM7,Q9NUN5,P78536 16 |
| Abnormality of skeletal muscle fiber size 0.4532826871799338 1.1919996565653364 0.2332613799325722 1.0 0.6192404973876068 23 Q7Z406,O95831,P02545,Q9BPX6,Q96RR1,Q13049 6 |
| Pain 0.3372945749237435 1.1918215977571258 0.2333312052777489 1.0 0.6192404973876068 192 Q14108,P14174,P02545,O00192,P06280,Q9NR77,Q70HW3,P49748,P28070,Q14203,Q14739,P42892,Q96RR1,Q969N2,Q13049,P50336,O14936,P20700,P07602,Q15056,P23786,P00846,Q7LG56,Q03252,O43707,Q9H9S5,P51798,Q8N1F7,P48735,Q68CQ7,Q13423,O75569,Q9NZ08,Q9NWH9,Q15165,Q01082,Q96HY6,Q9NUQ7,O75844,Q14566 40 |
| Abnormal aldolase level 0.701055564179791 1.1873532308710513 0.2350883196048001 1.0 0.6196854893908355 4 Q9H9S5,O43505 2 |
| Polyphagia 0.601458627972735 1.1868489141042258 0.2352872209103704 1.0 0.6196854893908355 7 O95714,O95155,Q4J6C6 3 |
| Immunodeficiency 0.3588171185756991 1.1861339415210586 0.2355694084541182 1.0 0.6196854893908355 69 Q13432,O00754,O60566,P02786,Q15437,P14174,Q03252,Q9Y448,P11274,O00192,Q6PGP7,P00813,O96028 13 |
| Abnormal morphology of the abdominal musculature 0.5621591366402215 1.1856014230497842 0.2357797400171168 1.0 0.6196854893908355 9 Q96JJ3,Q8NCH0 2 |
| Abnormality of the vasculature of the eye 0.3575271300548888 1.18553207469494 0.2358071406692445 1.0 0.6196854893908355 79 P03886,P16278,Q15555,P04066,P07602,Q15056,P28070,P02786,P00846,Q9NZ08,O75306,Q14331,Q14739,O15484,O00192,P10619,P06280 17 |
| Abnormal circulating aspartate family amino acid concentration 0.5621245528289909 1.185433564291947 0.2358460675894189 1.0 0.6196854893908355 9 Q9NVS9,P55263,P16930,Q6PGP7,Q99707 5 |
| Atrophy degeneration affecting the brainstem 0.5292132951846692 1.184961771412429 0.2360325621307895 1.0 0.6196854893908355 12 P20700,Q13813,Q96RR1 3 |
| Dysgraphia 0.4856913836651066 1.1836505996736246 0.2365514016268259 1.0 0.6202176344107607 16 P05067,Q15056,Q9UIG0 3 |
| Cavernous hemangioma 0.6685912206551765 1.1834378854135108 0.23663565005601 1.0 0.6202176344107607 5 Q15437 1 |
| Expressive language delay 0.5615055625390897 1.1824291998646137 0.2370354427335654 1.0 0.620716765650886 9 P31040,Q9UHX1,Q96L73 3 |
| Small placenta 0.7212522886013566 1.181946807182263 0.2372268077891055 1.0 0.620716765650886 3 O75844 1 |
| Short umbilical cord 0.7212522886013566 1.181946807182263 0.2372268077891055 1.0 0.620716765650886 3 O75844 1 |
| Sclerocornea 0.5100577315290443 1.1811644790285651 0.2375373892046846 1.0 0.6211796553934549 14 O75569,Q9UBM7,O96028,O15078 4 |
| Dilatation of the ventricular cavity 0.7206043956043965 1.1794062576116269 0.2382364445669305 1.0 0.6223073400239044 3 P27635,Q9NXR1 2 |
| Aplasia cutis congenita of scalp 0.5995687009188675 1.1783928099913497 0.2386400427921839 1.0 0.6230113926153252 7 O96028 1 |
| Neuronal loss in central nervous system 0.5277865199329507 1.1773717967620192 0.2390471416619453 1.0 0.6237237884913306 12 P04062,P07602,O15118 3 |
| Small earlobe 0.5803835247004941 1.1769762074330576 0.2392050028293328 1.0 0.6237854366711054 8 P98175,P10586 2 |
| Ankyloglossia 0.5802619211905529 1.1764115281883043 0.2394304672315081 1.0 0.6240232087632185 8 P02545,O75844,P11274 3 |
| Delayed social development 0.7191519142345665 1.1737117098151524 0.2405105183374334 1.0 0.6261357863944276 3 Q9Y3C6 1 |
| Heterotaxy 0.6332503928958336 1.171465844344638 0.241411579143129 1.0 0.6274090080420016 6 O96028 1 |
| Atlantoaxial abnormality 0.6329652831321396 1.170252674456364 0.2418993008268239 1.0 0.6274090080420016 6 Q96L58,Q7RTS9 2 |
| Acanthosis nigricans 0.5327461784837522 1.1700438559781785 0.2419833204613495 1.0 0.6274090080420016 11 P02545,P28070,O75431 3 |
| Supernumerary tooth 0.5976722581082247 1.1699084986085626 0.2420377934513817 1.0 0.6274090080420016 7 Q9UHX1 1 |
| Abnormality of primary teeth 0.5077121733148131 1.1679586867548613 0.2428234297767375 1.0 0.627935714063717 14 P02545,O75844,P51798 3 |
| Reduced visual acuity 0.3249311097125438 1.166817510994484 0.2432840737991213 1.0 0.6283292909345531 136 Q71SY5,P16278,A2RRP1,O60313,O43395,Q9UHX1,O43676,Q10713,O75251,Q8NHS3,Q9NXR1,Q9H6K4,Q9H061,P03886,P07602,O15078,P50897,P00846,O43505,P52732,Q9Y4W6,P30533,Q9H9S5,O15484,P51798,Q96CU9,O43172,P31749,Q15051,Q15555,Q8WWY3,Q9NZ08,O75306,Q86YV9,O43681,O75380,P49770 37 |
| Cystic renal dysplasia 0.7172118876824676 1.1661079399129732 0.2435708068615611 1.0 0.6283292909345531 3 P23786 1 |
| Aortic regurgitation 0.4385367533914878 1.165239380730365 0.2439221090694929 1.0 0.6283292909345531 27 O00754,O60566,Q9UHX1,Q9NZ08,P02545,Q01082,Q6ZXV5,O75844,P11274 9 |
| Myoclonus 0.3480838412662847 1.16415180047321 0.2443624993414359 1.0 0.6287666303652563 110 Q05639,Q01105,Q14108,P27544,O96008,Q96N67,O14773,O75503,P05067,Q5THJ4,P11166,Q9UBX3,Q96RR1,Q13813,P00403,P03886,O14936,P07602,P50897,P00846,Q03252,Q9Y4W6,Q9Y4G8,Q96F07,Q96CU9,P31749,Q9NWS8,Q9NWW5,P23378 29 |
| Aplasia hypoplasia of the lungs 0.405147895195311 1.1634691202131189 0.2446392198133389 1.0 0.6291303013129972 35 P98175,Q96L58,O75419,P02545,Q14739,P25705,O96028,Q9UBM7,O75844 9 |
| Arthralgia 0.4002557247764073 1.1628429363065385 0.24489323315415 1.0 0.6294352071168888 38 Q15056,P28070,Q9NZ08,P14174,P02545,Q03252,Q96HY6,Q9NUQ7,Q969N2,P06280 10 |
| Abnormality of the upper arm 0.4505545230133695 1.161926349714183 0.2452653828475248 1.0 0.6300432471489487 22 P02545,Q7RTS9 2 |
| Blindness 0.3545759046152201 1.1590488062252478 0.2464362914521978 1.0 0.6324316666031939 93 P03886,P16278,P07602,O15078,P50897,O43676,P00846,Q9NZ08,O43505,P52732,O75251,Q9H9S5,Q8NHS3,O15484,O75380,Q96CU9 16 |
| Abnormal retinal vascular morphology 0.3686338251191887 1.1576595671626824 0.2470029902281112 1.0 0.6334117683907595 56 P16278,P03886,O43395,Q15555,P07602,Q15056,Q8WWY3,P00846,O75306,Q14331,O15484,P04439,O00192,Q8WYQ5,P10619,O43172,P35222,Q9UIG0 18 |
| Sepsis 0.4498826797311482 1.1573683129508134 0.2471219143732401 1.0 0.6334117683907595 22 P42892 1 |
| Impairment of activities of daily living 0.3665871382904114 1.1569565116830365 0.2472901283934936 1.0 0.6334935097268825 59 P20700,P11166,Q99720,P07602,O75298,O43681,P11274,P07196 8 |
| Diastasis recti 0.693047540533086 1.155574426628964 0.2478552733753118 1.0 0.6342419908453053 4 Q96JJ3,Q15910,Q8NCH0 3 |
| Fasciculations 0.402578110139879 1.1545283790350245 0.2482836106608199 1.0 0.634290235701391 36 Q5THJ4,P07602,P51114,P35637,Q8TD16,Q9BQT8,Q14203,O95831,Q9NQT5,Q92734,P07196,P06280,Q9NWS8 13 |
| Telangiectasia of the skin 0.4493193177374217 1.1535461739670458 0.2486862767905326 1.0 0.6349698506843986 22 P02545,Q96JJ3,Q8IZA0,P06280 4 |
| Cutaneous finger syndactyly 0.7126373626373635 1.1481893800588858 0.2508903924343948 1.0 0.6391927925672328 3 Q9Y619,Q9Y2U8 2 |
| Steppage gait 0.449920443001172 1.147723072155302 0.2510829033881907 1.0 0.6393327408465327 21 Q9NR77,O15269,Q15046,P02545,Q5TAQ9,P07196 6 |
| Hypoplastic labia minora 0.6270887135768025 1.145255299354231 0.2521034170030178 1.0 0.640877778344105 6 O95714,Q9Y619,O75419 3 |
| Clitoral hypoplasia 0.6270887135768025 1.145255299354231 0.2521034170030178 1.0 0.640877778344105 6 O95714,Q9Y619,O75419 3 |
| Impaired distal tactile sensation 0.659048168803341 1.1443334198148294 0.2524853885643638 1.0 0.641465934793311 5 P39210,Q5TAQ9 2 |
| Abnormal corneal epithelium morphology 0.4514447308986493 1.1420073635186172 0.2534509589308964 1.0 0.6426236470212588 19 Q9NZ08,P02545,P39210,O75844,Q96EK5 5 |
| Abnormality of the tongue 0.3498803854800251 1.1404560554794885 0.2540963506962408 1.0 0.6438308297085229 103 P98175,P51114,Q71SY5,P02545,P10253,Q9UBM7,P16278,Q9BQT8,O95831,P20700,O00754,Q15056,O15078,Q03252,Q9H9S5,O75431,P11274,P31749,Q9NWS8,P04066,Q9NQT5,Q15437,Q14331,Q01082,O60826,O75844,Q9NUN5,P07196,Q9UIG0 29 |
| Paroxysmal involuntary eye movements 0.4437087932448115 1.1386488299242223 0.2548496532229509 1.0 0.6450361320953447 24 P03886,P11166,O43676,O75380,Q96CU9 5 |
| Abnormal cellular phenotype 0.3399737110535252 1.1377970427194457 0.2552052401236877 1.0 0.6452332703236001 208 Q14108,P26038,Q4J6C6,O43772,P14174,P02545,O14773,O75503,O00192,Q7KZN9,P11166,O60566,Q70HW3,Q9UBX3,P49748,P28070,O43676,Q7Z406,P02786,O75787,P15586,O75251,Q14739,P00813,Q6PGP7,Q96RR1,Q969N2,Q9BUB7,P00403,P03886,P20674,O00754,P07602,Q15046,P23786,P00846,Q7LG56,Q9Y4W6,Q9Y448,P11177,P51798,O15287,P78536,Q9Y2R0,Q96CU9,O75306,Q15437,Q9NWW5,O75380,O75844,Q9GZY8 51 |
| Polyarticular arthropathy 0.6358143367206756 1.136788127758622 0.255626867607214 1.0 0.6459478269552601 2 Q9UBC1 1 |
| Abnormality of humoral immunity 0.3612159249629715 1.136353173108415 0.2558087852370292 1.0 0.6460562092372146 63 Q14108,P02786,P28070,O75787,P14174,P02545,Q03252,Q9Y448,P00813,Q969N2,P78536 11 |
| Coxa valga 0.4411450991100117 1.1344787570231512 0.2565937795330457 1.0 0.6473351213301105 25 P16278,O00754,P04066,Q8WVQ1,Q96L58,P02545,O75530,O75844,P11274 9 |
| Abnormal urine carbohydrate level 0.5257699045620334 1.1337877081914929 0.2568836082298495 1.0 0.6475551533878912 11 P16278,O00754,P04066,P10253 4 |
| Gynecomastia 0.447817717885444 1.1336063814212536 0.2569596950392234 1.0 0.6475551533878912 21 P51809,Q15437,Q01082,P31751,P31749 5 |
| Abnormality of thalamus morphology 0.4445575102928485 1.1321599020163855 0.2575672146477337 1.0 0.648445943080692 23 P11166,Q9UPT5,P31749,O75306,Q9H9S5,Q9NXR1,Q96RR1,O00443,Q9GZY8,Q96KP1,P49792 11 |
| Limited elbow extension 0.519110690000734 1.1312204955266538 0.2579622975360114 1.0 0.6490258779912533 12 Q96L58,Q7RTS9,Q8WVM7 3 |
| Insulin resistance 0.4496210586475144 1.130008617940935 0.2584725931464358 1.0 0.6499578681555666 19 Q03252,P02545,Q9Y6M1,O75431,O75844 5 |
| Ureteral duplication 0.5304697552037484 1.128622896785318 0.2590569475198316 1.0 0.6510749784341037 10 P23786,O75844,O15078 3 |
| Increased circulating androgen concentration 0.6336171381488547 1.12704114526228 0.2597250851682369 1.0 0.6524013355550253 2 O14802 1 |
| Talipes valgus 0.6226889986886284 1.1265520373093167 0.2599319274540932 1.0 0.6525681614690282 6 Q9HD42,O00754 2 |
| Decreased circulating total igm 0.5298794717004338 1.1256241111790026 0.2603246579478724 1.0 0.6532012340625071 10 P00813,Q969N2 2 |
| Upper limb muscle weakness 0.4292430141651943 1.1251502428914826 0.2605253737342665 1.0 0.6533286005854732 28 Q12824,Q8N0X7,P50402,Q8WXH0,P31749,P00846,O95140,P02545,Q92734,P55265,Q13642,P07196,P50336 13 |
| Limb joint contracture 0.3438941055893179 1.1248405657110565 0.2606566011373934 1.0 0.6533286005854732 112 Q99720,Q86XL3,Q8IZA0,Q8TD16,O75419,Q71SY5,P02545,P06753,Q9HC21,Q9NR77,Q8WVQ1,Q96L58,Q15392,P42892,Q9BUB7,O95155,P23786,Q9H9S5,O75530,P11274,O75844,P07196 22 |
| Eruption failure 0.5875173432079602 1.1245013048009371 0.2608004172877245 1.0 0.6533366787795449 7 O75844 1 |
| Impaired vibration sensation in the lower limbs 0.449089435703526 1.1206319189684455 0.2624445725031024 1.0 0.6562371435840515 18 Q9NR77 1 |
| Adrenocorticotropic hormone deficiency 0.6319692392199888 1.1197352035346704 0.2628266187322525 1.0 0.6562371435840515 2 P04637 1 |
| Sudden loss of visual acuity 0.6319692392199887 1.1197352035346693 0.262826618732253 1.0 0.6562371435840515 2 P35222 1 |
| Abnormally large globe 0.5485027702319542 1.1193385125585835 0.2629957516397203 1.0 0.6562371435840515 9 P30533,Q9H9S5,O75431,O14936 4 |
| 2 3 toe cutaneous syndactyly 0.6308706399340782 1.1148667033004371 0.2649075470732489 1.0 0.6583023375665176 2 P27635 1 |
| Tongue thrusting 0.6308706399340782 1.1148667033004371 0.2649075470732489 1.0 0.6583023375665176 2 Q14683 1 |
| Hand apraxia 0.6308706399340782 1.1148667033004371 0.2649075470732489 1.0 0.6583023375665176 2 Q14683 1 |
| Submucous cleft of soft and hard palate 0.4381275369821064 1.1133061935054744 0.2655769473505778 1.0 0.6584366620511509 25 P62266,O75844,Q15392,Q8N3U4,O75419,P02545,O43505,Q8NAT1,Q9H9S5,Q9Y619,Q8WYQ5 11 |
| Limb tremor 0.6514488151468205 1.1132338805702249 0.2656079951080816 1.0 0.6584366620511509 5 Q9NR77 1 |
| Increased intracranial pressure 0.4433563487998747 1.113089357237648 0.2656700540877788 1.0 0.6584366620511509 22 Q9NZ08,P07602,Q15437 3 |
| Cirrhosis 0.3885795355272198 1.110726530497045 0.266686078867389 1.0 0.6598989395616384 41 P22830,P11717,Q14108,Q9NWH9,O75787,Q14739,P39210 7 |
| Cataplexy 0.68132268121825 1.1091243717564392 0.2673765323689721 1.0 0.6607609622295939 4 O15118 1 |
| Aortic valve stenosis 0.5463559312837287 1.108928513380166 0.2674610221549098 1.0 0.6607609622295939 9 P16278,O60826,O75844 3 |
| Focal t2 hyperintense brainstem lesion 0.442579091897495 1.107816287298007 0.2679411645592713 1.0 0.6610857392036705 22 P03886,O43676,Q96CU9,O75380 4 |
| Flat forehead 0.6182162012584327 1.107551102122358 0.2680557310571883 1.0 0.6610857392036705 6 Q13555,Q9Y448 2 |
| Narrow nasal bridge 0.7021326507198309 1.107109523917183 0.2682465783468428 1.0 0.6610857392036705 3 Q15233 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.3631032958423574 1.1070170559097905 0.2682865542480273 1.0 0.6610857392036705 57 Q9UHX1,Q8WVQ1,Q7RTS9,Q14739,P02545,Q9Y448,P51798,Q9Y366,O60826,O75844,P11274 11 |
| Abnormal oral mucosa morphology 0.3574621669971711 1.106518018745686 0.2685023693494122 1.0 0.6610857392036705 64 P16278,P20700,O00754,Q14108,Q15056,Q96JJ3,Q9NZ08,Q15392,Q14739,P08236,O75431,Q9UBM7,Q9NUN5 13 |
| Dysplasia of the femoral head 0.70027024186324 1.0998375937866078 0.2714028893077556 1.0 0.6634451481394741 3 O75431 1 |
| Thick hair 0.6152651078484723 1.0950228632491306 0.273506620175346 1.0 0.6642712374207219 6 Q9Y487 1 |
| Abnormality of hepatobiliary system physiology 0.3499363885768768 1.0937751518273282 0.2740536046153692 1.0 0.6650272066045017 88 P22830,P03886,P55263,O15118,P23786,P00846,O43772,O75787,P39210 9 |
| Abnormality of the pubic hair 0.6144319629928932 1.0914872420928046 0.2750585426116787 1.0 0.6664218183089005 6 P57740,P51809 2 |
| Adenomatous colonic polyposis 0.6767369420957005 1.0909892082367934 0.275277631225209 1.0 0.6665902081730436 4 P20585 1 |
| Bradykinesia 0.4347376895758631 1.0895252530358197 0.275922324940081 1.0 0.6674706111382388 25 O75569,O75787,Q14203,P06753,Q96RR1,Q6DKK2 6 |
| Ventricular tachycardia 0.4934896601433018 1.0878947038183402 0.2766415944587579 1.0 0.6685145550961249 14 P23786,O43772 2 |
| Abnormality of the nasal tip 0.3442775738163643 1.085852504614958 0.2775442527891263 1.0 0.6690393636248837 106 Q96N67,Q71SY5,P02545,O00192,Q96EK5,P16278,Q9UHX1,Q9Y487,O95831,Q13868,P42892,O14936,P23786,P52732,Q9Y448,O75431,Q9UQE7,Q01082,Q9BSJ2,P10586,O75844 21 |
| Headache 0.3485779729775077 1.0842914303685578 0.2782356037244922 1.0 0.6693564976372982 77 P31040,Q02241,P06753,P05067,P11166,O60313,Q9Y6N5,P57740,P55265,Q96RR1,Q969N2,P00403,P03886,P23786,P00846,Q7LG56,O43707,Q8N1F7,P04062,P35222,P31749,P54277,Q9NZ08 23 |
| Abnormal placental size 0.675013796754892 1.0841801186169746 0.2782849449464846 1.0 0.6693564976372982 4 P02545,O75844 2 |
| Fatigable weakness of swallowing muscles 0.5038497381083644 1.084176907816408 0.2782863682881988 1.0 0.6693564976372982 13 Q68CQ7,P35637,Q15165,Q14203,Q92804 5 |
| Abnormality of endocrine pancreas physiology 0.6125801177168286 1.0836307664258065 0.2785285438160247 1.0 0.6694247738928983 6 P53985 1 |
| Streak ovary 0.5783107941037817 1.083387752198716 0.2786363497259039 1.0 0.6694247738928983 7 P57740,P51809 2 |
| Slender long bone 0.5036200945137798 1.0829264825648282 0.2788410561222443 1.0 0.6694247738928983 13 Q96L58,Q9Y487,Q969N2,O75419 4 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4233848498046081 1.082061820099148 0.2792250593954657 1.0 0.6694247738928983 28 P03886,P20674,P22695,P00846,Q9NUN5,Q7LG56,P25705,Q9BUB7,P32929 9 |
| Respiratory tract infection 0.3234462276111945 1.080541158994804 0.2799012687095681 1.0 0.6694247738928983 175 P26038,Q7RTS9,P14174,Q71SY5,P06753,P10253,P54802,Q13432,P16278,P49748,Q9Y487,P02786,P15586,Q9NXR1,P00813,P20700,O00754,P07602,Q15056,O43707,Q9Y448,P08236,P51798,Q8N1F7,O96028,P11274,P04066,Q86YV9,O60826,Q9UIG0 30 |
| Premature skin wrinkling 0.4397653398929946 1.0795537712361143 0.2803409368512517 1.0 0.6694247738928983 21 P02545,Q9Y487,O75844 3 |
| Retinal arteriolar tortuosity 0.5028152800760007 1.0785444963017257 0.280790835621779 1.0 0.6694247738928983 13 O00192,P00846,Q15056 3 |
| Abnormal larynx morphology 0.4103972977603699 1.0771235504391936 0.2814250731910688 1.0 0.6694247738928983 31 Q9UHX1,P07602,P02545,Q01082,Q96HY6,O00192 6 |
| Tics 0.5588410791789123 1.0770440387156834 0.281460591857507 1.0 0.6694247738928983 8 P11274,Q9UHX1 2 |
| Calcinosis 0.6425780979368023 1.0769917085547929 0.2814839699132179 1.0 0.6694247738928983 5 P02545,O75844 2 |
| Abnormality of the metacarpal bones 0.3759446035259222 1.076145441992828 0.2818622152781103 1.0 0.6699814395894519 45 P16278,Q8WVQ1,Q9NX62,Q96L58,Q7RTS9,Q14739,Q9Y448,P08236,P51798,Q9Y366,Q9UBM7,O96028 12 |
| Lower limb pain 0.6102862074628165 1.073903276997301 0.2828660344608353 1.0 0.6713373146779887 6 P00846 1 |
| J shaped sella turcica 0.640728522501317 1.0694448066399709 0.2848692865055606 1.0 0.6750574066248548 5 O75431 1 |
| Emphysema 0.5187152349683007 1.0689429657126237 0.2850953699280949 1.0 0.6751500279367734 10 P06280 1 |
| Pes cavus 0.3389615100861148 1.067242986839067 0.2858621258021743 1.0 0.676031195217661 113 Q99720,O75175,Q9HD42,Q71SY5,P02545,P06753,O75298,Q8N3R9,P39210,Q00796,Q9NR77,Q5THJ4,O60313,O00400,Q8N0X7,O95831,Q10713,Q14739,Q9H6K4,Q96RR1,P55011,Q15046,Q9Y448,O75530,Q5TAQ9,O00764,P07196 27 |
| Neoplasm of the ear 0.6698675456906205 1.0638636965846906 0.2873904509379446 1.0 0.6789544613668675 4 Q15046 1 |
| Posteriorly rotated ears 0.3303349484502545 1.0631698671864485 0.2877049247435745 1.0 0.6793520250423735 124 P98175,Q4J6C6,Q9HC07,O75419,Q9UBM7,O60566,Q9UHX1,Q8WVQ1,Q8NCH0,Q96L58,Q15392,Q13868,P42892,Q13049,O95155,Q15056,O15078,P23786,O43505,Q9H9S5,O75530,O96028,Q9UQE7,Q15555,Q8NAT1,Q96RK4,Q9UIG0 27 |
| Global brain atrophy 0.4368590685594005 1.0600534335446237 0.2891202909987309 1.0 0.6820010113051282 21 Q9NVS9,Q9UHX1,P07602,P35637,O75306,Q969N2 6 |
| Emg myopathic abnormalities 0.3987178627500437 1.0584210048059477 0.2898635474385167 1.0 0.6834073591815257 33 Q7Z406,Q7LG56,P02545,P06753,Q9H9S5,Q96RR1,Q13049,P07196 8 |
| Extramedullary hematopoiesis 0.6682182377405013 1.0573590342931505 0.2903477602203099 1.0 0.6840414878466077 4 P98175 1 |
| Abnormal cardiac ventricular function 0.4319104090246898 1.0568360556471312 0.2905864158594113 1.0 0.6840414878466077 24 P03886,P49748,Q7LG56,P02545,Q9H9S5,P10253,Q96RR1,O75844,P00403 9 |
| Chronic pulmonary obstruction 0.5544141255903469 1.0565498880055155 0.2907170612130605 1.0 0.6840414878466077 8 O00192,P06280 2 |
| Sensory neuropathy 0.3861125087110932 1.0565405776985382 0.2907213123514203 1.0 0.6840414878466077 39 P03886,Q8IV08,O95831 3 |
| Anotia 0.6663747633935108 1.050092569211338 0.2936755548032252 1.0 0.688828849852471 4 Q9Y619,O75419 2 |
| Meningocele 0.4975402005145115 1.0498358641745864 0.2937935830444582 1.0 0.688828849852471 13 Q8TAA9,O15078,Q10713,Q9H9S5,O00192 5 |
| Limb pain 0.5092055415455292 1.0477882020826077 0.2947361993405648 1.0 0.6892410909229162 11 O75569,P00846,O15269 3 |
| Ileus 0.6655917526128858 1.0470074619553054 0.2950961366556401 1.0 0.6892410909229162 4 P50336,Q01844 2 |
| Verrucae 0.6857142857142868 1.0431441344503676 0.2968815426777387 1.0 0.6892410909229162 3 Q13043,P16615 2 |
| Hypermetric saccades 0.6638568523867613 1.040174709294698 0.2982587391443099 1.0 0.6919662310552211 4 O14773 1 |
| Chorioretinal coloboma 0.5075936254239632 1.0394313415987888 0.2986041740729397 1.0 0.6924219545493767 11 O15078,Q10713,Q01082,O60826,P31749,O14936 6 |
| Meningitis 0.5313156643452426 1.0360994402668398 0.3001557533354262 1.0 0.6946270363403121 9 P02786,Q9NZ08 2 |
| Abnormal thyroid stimulating hormone level 0.6127437517165553 1.0348243790193694 0.3007509354673354 1.0 0.6946270363403121 2 O14654 1 |
| Elevated circulating growth hormone concentration 0.6127437517165553 1.0348243790193694 0.3007509354673354 1.0 0.6946270363403121 2 O00170 1 |
| Abnormal urine hormone level 0.6127437517165553 1.0348243790193694 0.3007509354673354 1.0 0.6946270363403121 2 P04637 1 |
| Increased urinary cortisol level 0.6127437517165553 1.0348243790193694 0.3007509354673354 1.0 0.6946270363403121 2 P04637 1 |
| Dilated fourth ventricle 0.3580362799123623 1.0317939361191055 0.3021686605695168 1.0 0.697208423866209 51 O60826,O15078,P23786,Q9Y487,O43505,Q8NAT1,P15291,Q9H9S5,Q9UBM7,O14936 10 |
| Progressive leukoencephalopathy 0.6826923076923088 1.0314096359052216 0.3023487640503868 1.0 0.697277769996103 3 P31040,Q5JTZ9 2 |
| Fatigable weakness of respiratory muscles 0.4716137623641604 1.0279211733317517 0.3039869088322584 1.0 0.7002586748787564 15 Q68CQ7,P35637,Q7LG56,Q14203,Q15165,Q92804 6 |
| Hypergonadotropic hypogonadism 0.4826781380199759 1.0271075299114658 0.304369833388586 1.0 0.700548100919643 14 P02545,Q96RR1,Q16740,Q7LG56 4 |
| Infantile axial hypotonia 0.5038156494052397 1.0198565900548706 0.3077964798804267 1.0 0.7063359219774532 11 O00754,P07602,Q8N3U4,Q15043,Q14683,Q9GZY8 6 |
| Hypopigmentation of the skin 0.3562558255156041 1.01922601762802 0.3080956775429908 1.0 0.7066735506131681 53 P07602,O95714,P31749,Q8IZA0,O15287,Q9Y2U8,Q15437,Q86YV9,P02545,Q01082,P51798,O00192,Q6PGP7,P50336,Q96L73 15 |
| Osteolysis involving bones of the feet 0.627861400537609 1.0170555052534886 0.3091270254625562 1.0 0.7066982885282916 5 O75844,O75431 2 |
| Foot acroosteolysis 0.627861400537609 1.0170555052534886 0.3091270254625562 1.0 0.7066982885282916 5 O75844,O75431 2 |
| Laryngomalacia 0.4579973388189168 1.016564233175935 0.3093607762639039 1.0 0.7066982885282916 16 P02545,P07602 2 |
| Corneal ulceration 0.6276334343462924 1.0161293190261804 0.3095678089982487 1.0 0.7066982885282916 5 P02545,O75844 2 |
| Generalized clonic seizure 0.5965608287188796 1.0158222996643456 0.3097140149181592 1.0 0.7066982885282916 6 P07602 1 |
| Cerebellar atrophy 0.3078247312876038 1.0154080153485894 0.3099113738509247 1.0 0.7066982885282916 142 Q14108,O14773,O75503,O60313,O00400,Q8N0X7,O75787,Q10713,Q13868,Q8NHS3,Q9NXR1,Q9H6K4,Q96RR1,Q969N2,Q5H8A4,Q13813,Q6DKK2,O14936,O00754,Q8IV08,Q7LG56,Q9Y4W6,Q96F07,Q9H9S5,P51798,P41440,Q96CU9,P17480,Q9NQT5,Q9GZY8 30 |
| Delayed ability to walk 0.3416735089609325 1.0151197552908626 0.3100487456785927 1.0 0.7066982885282916 73 Q99720,Q01105,Q86VD7,Q8N3U4,O95714,Q10713,Q6ZXV5,Q5H8A4,O14936,P20700,P55011,Q15046,Q15233,Q03252,Q9UBB6,Q96N66,O75175,Q15042,Q14738 19 |
| Papillary renal cell carcinoma 0.6272696424335916 1.014651454842694 0.3102720023997216 1.0 0.7066982885282916 5 P02545 1 |
| Megaloblastic anemia 0.5268308581462879 1.0144298326047834 0.3103776951803492 1.0 0.7066982885282916 9 P41440 1 |
| Abnormal renal tubule morphology 0.4141753838739425 1.0143894808431162 0.3103969416995751 1.0 0.7066982885282916 28 P03886,Q15056,P23786,P00846,O75306,Q9NQH7,P06280 7 |
| Tonic seizure 0.4208965993109506 1.013911269418931 0.310625093477618 1.0 0.7066982885282916 26 Q05639,Q01105,Q96JM3,Q9Y6N5,P07602,Q15046,Q00610,P27635,Q96N67,Q96T60,Q969N2,Q9NZJ7,O14936 13 |
| Large earlobe 0.5264430717924989 1.0125574177327454 0.3112716079875817 1.0 0.7069790627166628 9 Q15392,Q96N67 2 |
| Profound sensorineural hearing impairment 0.6263881591721554 1.0110713402795042 0.3119822862595498 1.0 0.7075775187228335 5 Q9NR77,P55011 2 |
| Coarse facial features 0.3413081535252378 1.010918377126643 0.3120554976053795 1.0 0.7075775187228335 73 P16278,O00754,P04066,Q15056,Q7RTS9,P15586,O95831,Q01082,P08236,P54802,P10619,P06280 12 |
| Abnormal conus terminalis morphology 0.5260652164096892 1.010733162355325 0.3121441604006474 1.0 0.7075775187228335 9 O96028,Q5H8A4 2 |
| Aplasia hypoplasia of the earlobes 0.5017477227063124 1.0091499119313043 0.3129027439461675 1.0 0.7083906454002378 11 P98175,P10586 2 |
| Proptosis 0.3523825403280448 1.0090301220383768 0.3129601882949619 1.0 0.7083906454002378 59 O75419,P02545,Q5KU26,Q9UBM7,A2RRP1,Q8WVQ1,Q96L58,Q96JJ3,O75718,Q9NXR1,Q6PGP7,Q5H8A4,O00754,O75431,O15287,O96028,P31749,Q9NX62,Q01082,O75844 20 |
| Delayed epiphyseal ossification 0.6552772865405241 1.0064470360802935 0.314200577148181 1.0 0.7094703994206013 4 Q96L58 1 |
| T lymphocytopenia 0.5008648470863326 1.004580669495642 0.3150988091706077 1.0 0.7108078476775797 11 P00813,Q9Y448 2 |
| Subcortical heterotopia 0.5931602558965053 1.0014706016395851 0.3165993460769356 1.0 0.7132254739218148 6 P07942,Q9BSJ2 2 |
| Abnormal upper limb bone morphology 0.3352334483260165 1.0014051453199924 0.3166309775555636 1.0 0.7132254739218148 111 O00116,P98175,Q7RTS9,P02545,Q8N3R9,Q9Y366,Q9UBM7,P16278,Q9UHX1,Q8WVQ1,Q96L58,Q14739,Q13868,Q969N2,P55011,Q15056,Q15233,Q9Y448,P08236,O75431,P51798,O75530,O15287,O96028,P31749,Q9UQE7,Q9NX62,O75844,Q9UIG0 29 |
| Neoplasm of the thyroid gland 0.4086437243098969 1.000973671105634 0.3168395374539485 1.0 0.7133494818548929 29 P02545,P42892,Q15437 3 |
| Progressive sensorineural hearing impairment 0.4882104311951587 0.999133113372468 0.3177302120727376 1.0 0.7136911387820934 13 P03886,O60313,Q7Z406 3 |
| Short nose 0.338993488071469 0.9960894859096742 0.3192066679542977 1.0 0.7163756764314184 102 Q13045,Q5KU26,Q8N201,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,Q15392,P42892,Q969N2,O14936,P20700,Q15056,Q9UQE7,Q9NX62,Q01082,O60826,O75844,Q9UIG0 20 |
| Vertebral hypoplasia 0.4992012506479117 0.995974046139266 0.3192627557326162 1.0 0.7163756764314184 11 P16278,Q96HY6 2 |
| Poor eye contact 0.3671510414054078 0.9951276986924896 0.31967416061554 1.0 0.7166067652582799 45 P03886,Q9UHX1,O43676,Q96N67,O75251,Q01082,O75380,Q96RR1,Q96CU9 9 |
| Increased muscle fatiguability 0.6518574727172706 0.993034622860854 0.3206930820411715 1.0 0.7167618352127381 4 P53985 1 |
| Pulmonary fibrosis 0.4268036957508253 0.9926586565006584 0.3208763292472469 1.0 0.7167618352127381 21 P14174 1 |
| Cervical subluxation 0.672625547050687 0.992424249703892 0.3209906144877474 1.0 0.7167618352127381 3 P16278 1 |
| Abnormal circulating fatty acid concentration 0.4267674412531118 0.9924159486483396 0.3209946621621817 1.0 0.7167618352127381 21 P23786,Q9NUN5,O43772 3 |
| Milia 0.6725274725274736 0.9920452878983416 0.3211754338914612 1.0 0.7167618352127381 3 Q9H4L7,P50336 2 |
| Abnormality of hair pigmentation 0.4238523731823239 0.9902870007586708 0.3220338585184479 1.0 0.7167618352127381 23 Q86YV9,P02545,Q6PGP7,Q13126,Q9UBM7 5 |
| Shuffling gait 0.4980576774708416 0.9900602744254212 0.3221446589246963 1.0 0.7167618352127381 11 P02545,O75844,Q14203 3 |
| Secondary microcephaly 0.3412869716045271 0.9899831804831478 0.3221823401453587 1.0 0.7167618352127381 83 Q9HD42,Q9HC07,O75419,Q5KU26,Q9HC21,P11166,Q9UHX1,Q9Y487,Q13813,O14936,P50897,Q9BX67,Q96CU9,P55795,Q9UQE7,Q9NQT5,Q9BSJ2,P49770,Q9GZY8 19 |
| Abnormal metabolic brain imaging by mrs 0.4251516241535935 0.9897158694518404 0.3223130160827381 1.0 0.7167618352127381 22 P03886,Q9Y6N5,P07602,O75306,P00403 5 |
| Multiple joint contractures 0.4222003144214235 0.9896086350214206 0.3223654477285609 1.0 0.7167618352127381 24 P02545,Q96L58,O75844,P41440 4 |
| Abnormality of lysosomal metabolism 0.5902506455293434 0.989205046145332 0.3225628300222776 1.0 0.7168577097625652 6 P07602,Q9NWW5 2 |
| Abnormal circulating fatty acid anion concentration 0.4648084832736781 0.988392816016229 0.3229603044876299 1.0 0.71739796125909 15 Q9NUN5,O43772 2 |
| Abnormal circulating amino acid concentration 0.3488815200348849 0.9869354079948282 0.3236743046967651 1.0 0.7185161337844456 61 P03886,P20674,P22695,P55263,Q15046,P00846,Q9NUN5,Q7LG56,O14678,P25705,P23378,Q9P0J1,Q9BUB7,Q6PGP7,P41440,P32929,P05067 17 |
| Abnormality of the ovary 0.3397461224369094 0.9867342695098276 0.3237729253592918 1.0 0.7185161337844456 75 Q92878,Q9UIG0,P02545,Q5JTZ9,Q96RR1,Q13049,P20585,Q15056,O15078,Q03252,P48735,P35222,P31749,Q15051,P51809,Q15437,P31751,Q96RK4,O75844,P49770,Q01844 21 |
| Abnormal corpus striatum morphology 0.4274240868930237 0.9841146274132004 0.3250591556324873 1.0 0.7206822023970271 19 O75306,P00846,Q9NXR1,O95831 4 |
| Genu varum 0.4748064360908224 0.9829358852084468 0.3256389948774942 1.0 0.7210996940477843 14 Q7RTS9,Q8WVQ1,Q96HY6 3 |
| Sleep wake cycle disturbance 0.6490024351452679 0.9818522323857392 0.3261726514229401 1.0 0.7214136494977313 4 Q9UBM7,Q8N3U4 2 |
| Thin skin 0.4192802661843307 0.9812372266075856 0.3264757703666299 1.0 0.7214136494977313 25 Q96L58,P02545,Q13126,O75431,O75844 5 |
| Psoriasiform dermatitis 0.6187103648765195 0.979939929977344 0.3271157712315415 1.0 0.7224012110385278 5 P78536,Q9Y448 2 |
| Lethargy 0.3398988012516397 0.9766845848876088 0.3287253290273504 1.0 0.7242191675418543 92 O43772,Q8N3U4,Q9HC21,A2RRP1,P11166,P49748,O43676,P80404,O75251,O14678,Q9NXR1,Q96RR1,P03886,P20674,Q9Y3D3,P23786,Q7LG56,Q96CU9,Q9NWS8,P46783,O75306,O75380,P23378,Q9NUN5,P49770 25 |
| Moderately reduced visual acuity 0.6681891936974912 0.9752998238919384 0.3294115578202565 1.0 0.7242191675418543 3 O60313 1 |
| Narrow vertebral interpedicular distance 0.6681719840708477 0.9752334665536916 0.3294444649875996 1.0 0.7242191675418543 3 Q96HY6 1 |
| Vertebral arch anomaly 0.6681719840708477 0.9752334665536916 0.3294444649875996 1.0 0.7242191675418543 3 Q96HY6 1 |
| Abnormality of macular pigmentation 0.6466998911671724 0.9728442399867546 0.3306307214192192 1.0 0.7242191675418543 4 Q8NHS3,P35221 2 |
| Bell shaped thorax 0.6466979833704785 0.9728367802970268 0.3306344294952061 1.0 0.7242191675418543 4 Q96HY6 1 |
| Congenital hip dislocation 0.411892611691304 0.9726024526469944 0.3307509232041288 1.0 0.7242191675418543 27 Q9Y487,Q9UHX1,Q8TD16 3 |
| Rib fusion 0.4945903773959892 0.9721432172498772 0.3309793046200615 1.0 0.7242191675418543 11 O96028,O95155 2 |
| Lower limb spasticity 0.3396283954905375 0.971929180822359 0.331085781479973 1.0 0.7242191675418543 91 P31040,Q99720,P07942,P35637,O75298,Q92734,Q9Y619,Q7KZN9,P11166,O60313,O00400,Q8N0X7,O75787,O95831,Q5MNZ6,O75251,Q9H6K4,P55265,Q6DKK2,O00754,P07602,P00846,Q9Y4W6,P04062,Q96CU9,O75306,P42356 27 |
| Abnormality of exocrine pancreas physiology 0.4246801774081201 0.971661001663756 0.3312192240311444 1.0 0.7242191675418543 20 P14174 1 |
| Orthostatic hypotension 0.4727646480246744 0.9714948166941434 0.331301933018745 1.0 0.7242191675418543 14 P07602,O43681 2 |
| Micronodular cirrhosis 0.5529539816284321 0.970624932852716 0.3317350854461924 1.0 0.7242191675418543 7 P11717,O75787 2 |
| Abnormal endocardium morphology 0.4503482952709123 0.970540178858021 0.3317773076516643 1.0 0.7242191675418543 16 Q9NZ08,Q15056,P06280,Q9UIG0 4 |
| Corneal erosion 0.5858069957952624 0.9704998104584214 0.3317974193450845 1.0 0.7242191675418543 6 P39210 1 |
| Entropion 0.5175659576194084 0.9697591496559712 0.332166559282371 1.0 0.7243638283610397 9 O75844 1 |
| Multiple mitochondrial dna deletions 0.6458241137268305 0.9694205606088896 0.3323353979323453 1.0 0.7243638283610397 4 Q96RR1 1 |
| Nocturia 0.6458241137268305 0.9694205606088896 0.3323353979323453 1.0 0.7243638283610397 4 Q96RR1 1 |
| Tetraparesis 0.3774349722910209 0.9682531252706856 0.3329179687963159 1.0 0.7243638283610397 38 P07602,Q9UBX3,P00846,Q7RTS9,P50336 5 |
| Tracheal stenosis 0.6453139253508858 0.9674267354137503 0.3333307502248366 1.0 0.7248423005591089 4 Q9UBM7 1 |
| Abnormal urine ph 0.3513375107749887 0.9656940632920692 0.3341972910397137 1.0 0.7249064947606949 51 P03886,P49748,P23786,P00846,Q9NUN5,O43772,O14678,Q9NPF0,Q9HC21,P48735,Q8NFF5,P50336 12 |
| Abnormal systemic blood pressure 0.3362437460755152 0.9656321145615864 0.3342282995955754 1.0 0.7249064947606949 103 O43772,P02545,O00192,P06280,Q14203,P42892,Q9BUB7,Q13049,P50336,P03886,P20700,P07602,O15078,Q15056,O43707,Q15051,Q13423,O43681,Q96RK4,Q9NQH7,O75844 21 |
| Focal non motor seizure 0.4981221682516295 0.9647283868953812 0.3346808731257837 1.0 0.7249064947606949 10 Q05639,Q01105,Q96JM3,Q00610,P22466,P42356 6 |
| Abnormal t cell morphology 0.4373860801708362 0.963919951057424 0.3350860604181589 1.0 0.7249278038934751 17 P00813,Q9Y448,O75787 3 |
| Hypermetropia 0.3485679709248339 0.9632679017938888 0.3354130970325384 1.0 0.7249603078652122 58 A2RRP1,O00754,Q9UHX1,O95155,Q15056,Q9HD42,Q92878,O95714,Q9UIG0,P52732,Q71SY5,Q9Y366,Q969N2,Q5H8A4,O75175,Q96L73 16 |
| Hypocholesterolemia 0.515979535597434 0.9621251877637944 0.3359867231178897 1.0 0.725624440235946 9 P07602 1 |
| Abnormality of head blood vessel 0.4034208853119762 0.9620337213116128 0.3360326652437606 1.0 0.725624440235946 29 P03886,P00846,P10619,P07602 4 |
| Chronic oral candidiasis 0.6438093533101965 0.9615496972305636 0.3362758500467242 1.0 0.725664222089704 4 Q9Y448 1 |
| Generalized hirsutism 0.3953419442920421 0.960688108409526 0.3367090121469753 1.0 0.7260727514835241 31 Q9UQE7,Q15555,O95155,O15078,Q96JJ3,Q03252,P02545,Q96RK4,Q13049 9 |
| Nephropathy 0.4101510944181444 0.9600500227688687 0.3370300396447492 1.0 0.7260911424335418 27 P03886,Q14108,P06280,O15078 4 |
| Ureteral stenosis 0.5500233851220133 0.957655954198251 0.3382362739359743 1.0 0.7276345895652225 7 Q9UBM7,Q969N2 2 |
| Retinal coloboma 0.48043207703335 0.9569613159134328 0.3385867806952243 1.0 0.7276345895652225 13 Q9UHX1,O15078,Q10713,Q8N201,O14936 5 |
| Limb girdle muscular dystrophy 0.5328106016322667 0.9569082213429856 0.3386135812139614 1.0 0.7276345895652225 8 P50402,Q8WXH0,Q13642,P02545 4 |
| Abnormality of the voice 0.3044941800185313 0.9567648616154488 0.3386859516310687 1.0 0.7276345895652225 150 Q4J6C6,P02545,P06753,Q8N3R9,O00192,Q9NR77,Q8N0X7,Q9Y487,Q7Z406,P80404,O75787,Q14203,Q96RR1,Q6DKK2,P03886,P20700,P55011,Q15056,P00846,Q9H9S5,O75431,O75530,Q9UQE7,O75569,P25705,Q01082,Q96HY6,O75844,Q9UIG0 29 |
| Unilateral renal agenesis 0.4157084249950888 0.9562762369523214 0.3389326922108955 1.0 0.7278281981072233 25 Q9UHX1,P35606,Q9Y448,Q9UBM7,Q9NUN5 5 |
| Periventricular cysts 0.549423409104266 0.9550028637822738 0.3395762487365941 1.0 0.7288733616069065 7 O96028 1 |
| Joint stiffness 0.3423949557198119 0.9537711174289404 0.3401995123835875 1.0 0.7298740231055083 65 Q13045,O76024,P02545,P54802,Q14683,P16278,Q8TAA9,P15586,O95140,Q9NXR1,Q96L73,O00754,O95155,Q15056,Q9Y2U8,P08236,O75431,O75530,P48735,P31749,Q9UQE7,P50402,O75844,Q15042,Q9UIG0 25 |
| Generalized tonic seizure 0.4355538978448176 0.9524930991160055 0.3408469640843796 1.0 0.7306294889723285 17 Q05639,Q01105,Q96JM3,P27635,Q15046,Q00610,Q96N67,Q96T60,Q969N2,O14936 10 |
| Polydactyly 0.3469399074545806 0.9524553646972288 0.3408660925526163 1.0 0.7306294889723285 59 Q13045,Q9Y366,Q9UHX1,O95155,P98175,O15078,Q8WXW3,O60826,O75419,Q14739,Q9BRT2,Q96RK4,O00192,Q9UBM7,O96028,Q13049 16 |
| Spastic paraparesis 0.4195600039315149 0.9519248975059328 0.3411350716669346 1.0 0.7308689156460327 22 P31040,Q8N0X7,O75787,Q9Y4W6,Q9H6K4,P04062,Q9Y619,Q6DKK2 8 |
| High hypermetropia 0.4792799059794782 0.9507242565867764 0.3417443713326986 1.0 0.7314998127973517 13 Q71SY5,Q9Y366,O95155,Q15056 4 |
| Dilated cardiomyopathy 0.359950118537464 0.9497949112498628 0.3422164720773715 1.0 0.7319080808269035 46 P16278,P03886,O95155,P49748,P23786,P00846,Q7LG56,P02545,P06753,Q9H9S5,P09493,Q96RR1 12 |
| Cytochrome c oxidase negative muscle fibers 0.5131791643245955 0.948661693642445 0.3427927025821766 1.0 0.7319525359356849 9 Q96RR1,Q9Y2R0 2 |
| Hydrocephalus 0.3377888015498463 0.9485116944878976 0.3428690221944546 1.0 0.7319525359356849 83 P07942,Q8N3U4,O00192,Q9UBM7,P11166,O60566,Q9Y2V7,Q96L58,Q15392,Q10713,O95140,Q12768,O00754,O15078,P23786,Q8WXW3,O43505,Q9H9S5,P08236,P51798,O15287,O96028,P04062,P35222,P31749,Q8NAT1,Q01082,P15291,Q93009,O60826,Q14738 31 |
| Optic neuropathy 0.4051806534068691 0.948448968236076 0.3429009405491685 1.0 0.7319525359356849 28 P03886,O43676,P00846,O75380,Q96CU9 5 |
| Tetraplegia 0.4786385113622169 0.9472533872455444 0.3435096768951187 1.0 0.7326799596911464 13 O43681,O95831 2 |
| Spastic paraparetic gait 0.6104302400490984 0.946481996805377 0.3439028005023177 1.0 0.7330808779515001 5 Q15043,O75787,Q01433 3 |
| Abnormality of the chin 0.337541489480729 0.9454128955766298 0.3444481211457399 1.0 0.7335703111660191 90 P16278,P20700,O00754,P55011,Q9UHX1,O95155,Q15056,Q7RTS9,P52732,Q71SY5,P02545,Q9Y448,Q01082,Q96EK5,O75530,O75844,P11274,Q9UIG0 18 |
| Simplified gyral pattern 0.3844819583775686 0.9441655838466462 0.3450850393152707 1.0 0.7340597120810716 33 P20700,Q86XL3,P35606,P52732,Q03252,Q5KU26,Q9Y3C6,O14936 8 |
| Sarcoma 0.3440760860867012 0.9441217666509742 0.3451074274550203 1.0 0.7340597120810716 62 P31040,O60566,Q96JJ3,P46783,Q15392,P35222,Q15437,P02545,Q01082,Q13126,P48735,P31749,Q01844 13 |
| Hypopigmented macule 0.6391865897224565 0.9435202900640672 0.3454148420132039 1.0 0.7340597120810716 4 Q15149,Q15233,Q9NP58 3 |
| Narrow mouth 0.3364593338283728 0.9432735950885742 0.3455409782299017 1.0 0.7340597120810716 77 O75419,P02545,Q8N3R9,O00192,Q8NCH0,Q8WVQ1,Q9Y487,Q15392,Q6PGP7,P55011,O95155,Q15046,Q15233,O75431,P11274,P31749,Q15555,Q9NX62,O75844,O75175 20 |
| Raynaud phenomenon 0.5466532617110781 0.9427626358403188 0.3458023272879869 1.0 0.7340993215656807 7 P02545,O75844 2 |
| Horizontal eyebrow 0.5789895792166915 0.941872576613916 0.3462578818139106 1.0 0.7347307656571884 6 P78536,O95155 2 |
| Skin vesicle 0.4831061163293857 0.9402800063189078 0.3470739524131137 1.0 0.7357595206590012 12 P16615 1 |
| Methylmalonic acidemia 0.5291229315690953 0.9399803212356674 0.3472276548469315 1.0 0.7357595206590012 8 Q9NUN5 1 |
| Stereotypy 0.3355798028205671 0.9383087538344368 0.3480857623883413 1.0 0.7357595206590012 70 Q05639,Q13045,Q9UNW9,Q01105,Q9H2P0,Q96N67,Q71SY5,O14646,Q14683,P67870,P11166,Q9UHX1,Q96JM3,O95714,P20700,P55011,O95155,Q8NB90,P15311,Q9UBB6,O96028,P55795,Q96N66,Q14139,Q00610,Q06787,P61916,Q6PJT7,Q01082,Q9NUQ7,Q14738 31 |
| Abnormality of the zygomatic bone 0.3358007106863549 0.9382647924004888 0.3481083483909641 1.0 0.7357595206590012 76 O00754,O60566,Q8WVQ1,Q15056,Q15233,Q96L58,Q9HC07,Q9Y487,Q14739,P02545,O95831,O00192,Q969N2,P11274,O75175,Q9UIG0 16 |
| Aplasia hypoplasia of toe 0.3738923153479562 0.938149327538182 0.3481676750439302 1.0 0.7357595206590012 38 Q9UHX1,Q9NX62,P02545,Q8N3R9,P00813,O96028 6 |
| X linked recessive inheritance 0.3459111537773358 0.9358750528933172 0.3493375230872797 1.0 0.7370659839565817 58 P26038,O15344,P98175,Q15233,O14936,Q8IWS0,O75787,O95831,O75027,O60826,O95239,P06280,P29372 13 |
| Hemoglobinuria 0.6371633508625192 0.9356430904044684 0.3494569807234624 1.0 0.7370659839565817 4 Q969N2,O14936 2 |
| Abnormality of the lymph nodes 0.3667699861603845 0.9351519868386866 0.3497099781716075 1.0 0.7370659839565817 42 P00813,P28070,P14174 3 |
| Abnormality of the posterior pituitary 0.5102904583126169 0.9347906819115788 0.3498961826142068 1.0 0.7370659839565817 9 Q9UHX1,P31749,O76024,P42356,P35222 5 |
| Nevus 0.3782716426590087 0.9317967318001718 0.3514415839649567 1.0 0.7386472368544341 34 Q9UQE7,Q9UHX1,Q15056,Q15437,Q71SY5,Q01082,O75530,Q9UIG0 8 |
| Preauricular skin tag 0.4193773148230552 0.9314070994951352 0.3516430198351581 1.0 0.7387364887766635 19 O96028 1 |
| Profound hearing impairment 0.5761571930592837 0.9300063967875942 0.3523677724926279 1.0 0.7397340841170076 6 Q9NR77,P55011 2 |
| Renal tubular atrophy 0.6356801916232491 0.9298741436491208 0.352436251825921 1.0 0.7397340841170076 4 Q9NQH7 1 |
| Recurrent infection of the gastrointestinal tract 0.5759427536721995 0.929108706474794 0.3528327528523163 1.0 0.740042900489832 6 P78536 1 |
| Abnormal elasticity of skin 0.333489350869001 0.9286933673571534 0.3530480190553007 1.0 0.740042900489832 71 O00754,Q9Y3D3,Q15555,Q9UHX1,Q8NCH0,Q15056,Q96L58,Q9Y487,O75787,P02545,Q13126,O75530,O75844,Q9UIG0 14 |
| Aplasia hypoplasia involving bones of the upper limbs 0.3036954643229803 0.9286680596981408 0.3530611384518953 1.0 0.740042900489832 152 O00116,P98175,Q7RTS9,P02545,Q9Y366,Q9UBM7,Q96EK5,Q9UHX1,Q8WVQ1,Q96L58,O95831,Q14739,Q969N2,O14936,Q03252,Q9Y448,P51798,O96028,P11274,Q9UQE7,Q15555,Q9NX62,Q13555,P46783,O60826,O75844 26 |
| Color vision defect 0.4542444653268404 0.9271972673196952 0.3538241214044126 1.0 0.7408184630543381 15 Q13432,A2RRP1,O60313,Q9Y4W6,Q6P4Q7,Q9H6K4,Q9H061 7 |
| Abnormal leukocyte physiology 0.3333122541997509 0.9266734490649006 0.354096106929632 1.0 0.7408755555614588 71 Q14108,P02786,P28070,Q969N2,O75787,P14174,P02545,Q9Y448,O00192,P00813,P78536 11 |
| Cerebral calcification 0.3707999725150309 0.9248664367160538 0.3550353870559348 1.0 0.7416805703784184 39 P03886,P11166,O60313,O00584,P23786,P05067,Q16625,P00403 8 |
| Hypopigmentation of the fundus 0.6547581064640371 0.923697773756519 0.3556436915314647 1.0 0.7424421538844189 3 Q9Y619 1 |
| Abnormality of pancreas physiology 0.3496699215967728 0.9222102595084726 0.3564189126409154 1.0 0.7435955872527229 49 P03886,Q9UHX1,Q9NZ08,P53985,P14174,P02545,Q9NQH7 7 |
| Periorbital edema 0.4015673063550393 0.922023648963443 0.3565162402408148 1.0 0.7435955872527229 28 Q15056,P28070,Q14331,O43707,Q01082,Q9Y448,Q8N1F7 7 |
| Unexplained fevers 0.5418229448199265 0.9214582464231126 0.35681123081274 1.0 0.7438769805234647 7 P07602 1 |
| Breech presentation 0.5073910231525844 0.9208869626491244 0.3571094459684565 1.0 0.7441648409934607 9 Q9UBM7,O60313,O75718,P06753 4 |
| Absent septum pellucidum 0.3717981583978442 0.92037772867494 0.3573754028704128 1.0 0.7443852519671933 38 Q96N66,Q14139,P55011,O43505,Q15392,Q8N3U4,Q71SY5,Q9UBB6,Q8NAT1,Q9H9S5,O96028,Q9NUQ7 12 |
| Osteolysis 0.4010191463002538 0.9180187305524534 0.3586090598633586 1.0 0.7459517910407465 28 O00754,O60566,Q14108,Q96JJ3,O75844,P02545,O75431,P04062,P48735 9 |
| Incomplete penetrance 0.3809011464787834 0.915523948951286 0.3599166357464562 1.0 0.747417290358339 33 P03886,P11166,O60313,Q8WWY3,P00846,Q9NWH9,P52732,O43707,P42224,P35222,P49792 11 |
| Abnormality of vitamin b metabolism 0.441165998836933 0.9154471430108344 0.3599569390621826 1.0 0.747417290358339 16 O14678,P41440,Q9NUN5 3 |
| B lymphocytopenia 0.506101040377787 0.9147074866155304 0.3603452130114506 1.0 0.7478893277642746 9 P00813,Q9Y448 2 |
| Cerebellar cyst 0.3511786910706613 0.9124075000338572 0.3615542428515366 1.0 0.749331931045955 48 O60826,O15078,P23786,Q9Y487,O43505,P15291,Q9UBM7 7 |
| Abnormal venous morphology 0.3925643939315824 0.9089341674925916 0.3633848769293384 1.0 0.7505108991513936 30 P02545,Q9Y487,Q71SY5,P98175 4 |
| Middle age onset 0.4868399280826397 0.9079483661954564 0.3639055022780513 1.0 0.7510140107798584 10 P07602 1 |
| Bulbous nose 0.3507008536876693 0.9078609327101812 0.3639517005113495 1.0 0.7510140107798584 48 Q9UQE7,P23786,Q96N67,Q01082,Q9BSJ2,P42892,O75431,O00192,Q96EK5 9 |
| Thoracic hypoplasia 0.3797754597951791 0.906531002109428 0.364654863289334 1.0 0.7517074076571768 33 Q9UHX1,Q8WVQ1,O75718,Q14739,P02545,P06753,Q96HY6,Q9Y366 8 |
| Abnormal brain lactate level by mrs 0.4505649908460576 0.9059440698540824 0.3649654567367253 1.0 0.7517074076571768 15 P03886,Q9Y6N5,O75306,P00403 4 |
| Muscle fiber inclusion bodies 0.5041935829912629 0.9055776590742168 0.3651594381463803 1.0 0.7517074076571768 9 O43676,P07196 2 |
| Mottled pigmentation 0.6497316797636947 0.9044909759877338 0.3657351172400167 1.0 0.7523555067792641 3 O75844 1 |
| Hand polydactyly 0.3627957033139315 0.8999641769617467 0.3681393149650078 1.0 0.7556287087643072 42 Q13045,Q9UHX1,O60826,P98175,O15078,Q8WXW3,Q14739,Q96RK4,O00192,Q9UBM7,O96028,Q13049 12 |
| Schwannoma 0.6484021264560018 0.8994209733205808 0.3684284718974406 1.0 0.7557211216876244 3 Q15046 1 |
| Cervical myelopathy 0.6481218715869621 0.8983528478441309 0.3689974661306692 1.0 0.7557211216876244 3 P16278 1 |
| Abnormal sensory nerve conduction velocity 0.5361799978965257 0.8966382559876471 0.369911977442706 1.0 0.756347456089789 7 Q9NR77,O15269,Q7LG56 3 |
| Accessory spleen 0.5021798372208818 0.8959492851239196 0.3702798499256015 1.0 0.756347456089789 9 O96028 1 |
| Corneal dystrophy 0.5678490723261279 0.8953033555423563 0.3706249470447007 1.0 0.7563874083955751 6 Q13868,P06280 2 |
| Pulmonary embolism 0.597182231813725 0.893246986124686 0.3717249210860933 1.0 0.757140897271489 5 Q9NZ08 1 |
| Ectopic calcification 0.3382336366963493 0.8902808628538494 0.3733150942651464 1.0 0.7588780590770496 63 O00116,P11166,O60313,P03886,Q15046,O00584,P23786,Q14739,P02545,P08236,O75431,Q9UBM7,O75844,P05067,Q16625,P00403 16 |
| Facial edema 0.3935639048548641 0.8887747073192982 0.3741241715687633 1.0 0.7598410014860504 29 Q15056,P28070,Q14331,O43707,Q01082,Q9Y448,Q8N1F7 7 |
| Long toe 0.4829585125000277 0.8884860967546816 0.3742793312678221 1.0 0.7598410014860504 10 Q9UHX1 1 |
| Lower limb muscle weakness 0.3553899307797682 0.8871612604938314 0.3749920859833771 1.0 0.7606234061827818 45 Q9NR77,Q8N0X7,Q7Z406,P00846,P02545,P06753,O75298,P07196,Q00796 9 |
| High pitched voice 0.4822568504844531 0.8849722596993175 0.3761715930773959 1.0 0.7616860100351455 10 O75844,O75431 2 |
| Abnormal esophagus physiology 0.3352720174029616 0.8831307983688659 0.3771656055954773 1.0 0.7630337697876287 241 Q13045,Q99720,Q14108,O15344,O15118,Q9HD42,Q8IZA0,Q9UIG0,Q8WVM7,P06753,O00192,Q9UBM7,P06280,P05067,Q9NR77,Q9UHX1,P49748,Q8N0X7,P15586,Q14203,Q14739,O14678,Q6ZXV5,Q96RR1,Q969N2,P29372,P03886,P20700,P55011,O95155,P07602,Q15056,P00846,Q7LG56,Q96F07,Q9Y448,O96028,P48735,Q9UQE7,P61916,O75569,O75306,Q14331,Q93009,O60826,Q8NFF5,Q9UEY8,Q9GZY8 48 |
| Stomatitis 0.4356358253716921 0.882375270023913 0.3775739044862234 1.0 0.7633653966269228 16 Q9NUN5 1 |
| Supernumerary bones of the axial skeleton 0.5941174839420804 0.8809912223033891 0.3783225709473083 1.0 0.7636913320787878 5 Q9UHX1 1 |
| Abnormal nipple morphology 0.3388122950051228 0.8809481799913932 0.3783458682705574 1.0 0.7636913320787878 61 Q9UQE7,Q15555,O60826,P23786,O14678,Q9Y448,P10586,O75530,O96028,Q9UBM7,Q969N2,Q96EK5,Q5H8A4 13 |
| Decreased muscle mass 0.4076003464284097 0.8794946467744015 0.3791331343873869 1.0 0.7639027565024252 23 Q8NCH0,P04066,Q9Y487,Q7LG56,O96028,P31749 6 |
| Diminished movement 0.4098362112842512 0.8794267303787872 0.3791699440568727 1.0 0.7639027565024252 21 Q9Y3D3,P51114,Q7LG56,Q14203,O95831,P06753,Q96RR1 7 |
| Abnormal basal ganglia mri signal intensity 0.3717847254815863 0.8789589820014363 0.3794235163854569 1.0 0.763943275841949 34 P16278,P03886,P00846,O75251,Q7KZN9,Q96CU9,Q9GZY8 7 |
| Sound sensitivity 0.4807547256201809 0.8774546042244857 0.380239765580562 1.0 0.7640763489606686 10 Q9UIG0,Q15056,Q9GZY8 3 |
| Scaling skin 0.4982632089521208 0.8772543426559477 0.3803485053472037 1.0 0.7640763489606686 9 P02545,O75844,P78536 3 |
| Posterior pharyngeal cleft 0.6421998954294235 0.8758309426584768 0.38112194587405 1.0 0.7640763489606686 3 O15344 1 |
| Broad long bones 0.3616084551819307 0.8738612509150882 0.3821938191232397 1.0 0.7655408092524546 41 Q9UHX1,Q96L58,Q71SY5,Q13868,Q9Y448,Q8N3R9,O75530,O14936 8 |
| Gingival overgrowth 0.3914060473767048 0.8727888376341427 0.3827781848960709 1.0 0.7656747280887446 29 P16278,O00754,P20700,Q15056,Q14739,P08236,Q9UBM7 7 |
| Generalized muscle weakness 0.3699542455063473 0.8727035080362872 0.3828247051174256 1.0 0.7656747280887446 35 P31040,Q68CQ7,P35637,Q15165,Q14203,O95831,Q5JTZ9,P06753,Q9H9S5,P10253,P49792 11 |
| Irregular menstruation 0.5920382660804103 0.8726905001008838 0.3828317971232096 1.0 0.7656747280887446 5 Q06787,P02545,O00170 3 |
| Venous thrombosis 0.4339134941483551 0.8720951687501785 0.3831564615634999 1.0 0.7656871150501672 16 Q9NZ08,Q9NWH9,P52732,P48735,P31749 5 |
| Generalized joint laxity 0.4546472673112067 0.8703899682517273 0.3840873270544307 1.0 0.7670192560472451 14 Q9Y487,Q9UHX1 2 |
| Aplasia hypoplasia of the vagina 0.639935445247404 0.8672442946935321 0.385808171242568 1.0 0.7684757272897562 3 P51809 1 |
| Osteolysis involving bones of the upper limbs 0.4960968366347078 0.8669328203045443 0.3859788195026699 1.0 0.7684848218632848 9 O75844,O75431 2 |
| Elevated hemoglobin a1c 0.6397531777584726 0.8665537787980924 0.3861865480958131 1.0 0.7685691173452863 3 O75431 1 |
| Tongue fasciculations 0.468127494894941 0.8615372827911607 0.3889421963761166 1.0 0.7724745103683782 12 P51114,Q9BQT8,Q9NWS8,O95831 4 |
| Abnormal platelet morphology 0.5595657982950093 0.8608761221061292 0.3893062739844555 1.0 0.7724879006100521 6 P12814 1 |
| Abnormal tissue metabolite concentration 0.4527131785111071 0.8596517811986919 0.3899810221554847 1.0 0.7727023975012073 14 P07602,O43681 2 |
| Abnormal metacarpal morphology 0.3671930007565511 0.8594586349514881 0.3900875321396269 1.0 0.7727023975012073 36 P16278,Q8WVQ1,Q9NX62,Q96L58,Q7RTS9,Q14739,Q9Y448,P08236,Q9Y366 9 |
| Abnormal anterior chamber morphology 0.5592216017346223 0.8594496359272735 0.3900924950587114 1.0 0.7727023975012073 6 Q96JJ3 1 |
| Narrow forehead 0.3405079011413371 0.8585763042818763 0.3905743159128039 1.0 0.7733271606505325 50 A2RRP1,P20700,P55011,Q9UHX1,O95714,Q13555,O75787,Q96N67,Q01082,Q9BSJ2,Q9UBM7,Q969N2,Q15042,Q14738 14 |
| Cough 0.392449924824657 0.8555702506269722 0.3922355311188701 1.0 0.7762855677637944 28 Q9NR77 1 |
| Aganglionic megacolon 0.4037248843459582 0.8532097554640523 0.3935429944320905 1.0 0.7778793258723626 23 O15078,Q8WXW3,O15287,Q10713,P42892,O00192,Q9UBM7,Q96EK5 8 |
| Brittle hair 0.4413463606802304 0.8528742235637744 0.3937290574389351 1.0 0.777916211700141 15 Q9Y487 1 |
| Methylmalonic aciduria 0.4930314863938694 0.8523528625057469 0.39401827422415 1.0 0.7781567872161604 9 O14678,Q9NUN5 2 |
| Gastroesophageal reflux 0.3042853562178016 0.8517147011818909 0.3943724590805624 1.0 0.7782272528119542 136 Q05639,Q13045,Q01105,O15344,Q9HD42,Q8IZA0,Q8N3U4,Q8WVM7,O00192,Q9UBM7,Q9UHX1,P49748,Q14739,O14678,Q6ZXV5,Q96RR1,Q969N2,P29372,P55011,O95155,P07602,Q15233,Q15056,P00846,Q7LG56,Q96F07,Q9Y448,O96028,P55795,Q9UQE7,Q93009,P42356,O60826,Q9UIG0 34 |
| Elevated urinary delta aminolevulinic acid 0.6154430310360576 0.8516851014745641 0.3943888918382079 1.0 0.7782272528119542 4 P50336 1 |
| Broad nasal tip 0.3384909012940078 0.8508229166153201 0.3948677295081957 1.0 0.7787147579717466 56 P16278,Q9UHX1,Q9Y487,Q96N67,O95831,P52732,Q13868,Q9Y448,P10586 9 |
| Atrophy degeneration involving the corticospinal tracts 0.4303126771496917 0.8506368795648057 0.3949710963071673 1.0 0.7787147579717466 16 O00400,Q15056,P35637,P00846,Q14203,O75298,Q9UIG0 7 |
| Somatic mutation 0.3532651084987593 0.8491326355719678 0.3958074923959009 1.0 0.7797021692088816 44 P11717,P20585,O60566,O75330,O75533,Q9NWH9,P35222,P11274,P00813,Q969N2,Q9Y6D9,P31749,Q01844 13 |
| Transposition of the great arteries 0.5557072481793361 0.844904603347888 0.3981641040688948 1.0 0.7830724056065708 6 O75844 1 |
| Axial muscle weakness 0.5553285301477078 0.8433393878530762 0.3990386601625975 1.0 0.7843084191778144 6 P02545,Q8TD16 2 |
| Supernumerary spleens 0.4693118456252683 0.8423481951885033 0.3995930813903738 1.0 0.7843084191778144 11 O96028 1 |
| Abnormal circulating carboxylic acid concentration 0.3269030506234736 0.8421495917525077 0.3997042254395331 1.0 0.7843084191778144 102 P03886,P11166,P22695,P55263,P23786,P00846,P32929,P48735,Q14739,O14678,P25705,Q01082,Q9BUB7,P00390,P41440,Q9NUN5,P05067,O14936 18 |
| Abnormal bleeding 0.3203006069392879 0.8405518206648976 0.4005990592170867 1.0 0.7844853890357362 116 Q14108,P02545,Q13126,O00192,P05067,Q16625,P35579,Q9UHX1,Q8NCH0,Q96L58,Q9Y487,Q96JJ3,Q14739,Q6ZXV5,Q9NXR1,P12814,P23786,O15484,P51798,P31749,Q9NZ08,Q86YV9,P11117,O75844,Q9NUN5 25 |
| Cerebral white matter atrophy 0.4046687227825339 0.8397599600261743 0.4010429875312247 1.0 0.7850239103022751 20 O75503,P20700,O00754,Q93009 4 |
| Aplasia hypoplasia of the extremities 0.3177803018435239 0.8387256128161293 0.4016233020316411 1.0 0.7854841639942372 198 O00116,P98175,Q7RTS9,P02545,Q8N3R9,Q9Y366,Q9UBM7,Q96EK5,Q9UHX1,Q8WVQ1,Q8N0X7,Q96L58,Q15392,O75718,O95831,Q14739,P00813,Q969N2,O14936,P55011,O95155,Q03252,Q9Y448,O75431,P51798,O96028,P48735,P11274,Q9UQE7,Q15555,Q9NX62,Q13555,Q9NWH9,P46783,Q96HY6,O60826,O75844 37 |
| Central hypothyroidism 0.4684522769765638 0.8379676331256318 0.402048881928404 1.0 0.7854841639942372 11 P27635,P31749,Q8N3U4,P35222,O14654,Q14683 6 |
| Periventricular heterotopia 0.4684251050277966 0.8378292013766433 0.4021266358653224 1.0 0.7854841639942372 11 Q9UBM7,P11177,Q6ZXV5,Q9NXR1,P19022 5 |
| Long penis 0.6321428571428584 0.8378097356305092 0.4021375700515124 1.0 0.7854841639942372 3 O14802,P31749 2 |
| Delayed puberty 0.3367864480105802 0.8375343123671756 0.4022922983228501 1.0 0.7854841639942372 57 Q13045,Q14108,Q8IWS0,O76024,P02545,P42224,P06280,O95714,P57740,Q15233,P04062,P35222,Q9UQE7,P27635,P51809,Q01082,Q8IY37,O75844,Q15042,Q9UJS0 20 |
| Gangrene 0.4631218857635347 0.8353742031142672 0.4035070498200053 1.0 0.7865363295700112 12 Q9NZ08 1 |
| Cutaneous syndactyly of toes 0.6310439560439574 0.833673847052803 0.4044647994455412 1.0 0.7877401186183697 3 P27635,Q9H4L7 2 |
| Vertebral segmentation defect 0.3658591661982923 0.830890558992043 0.4060354575398708 1.0 0.7889748318394088 34 Q9UHX1,Q15056,Q8N3U4,Q9H9S5,O96028,O60826,Q9UIG0 7 |
| Myoclonic spasms 0.5051151504211866 0.8306105089140369 0.4061936961142671 1.0 0.7889748318394088 8 P00846,P31749 2 |
| Undetectable light and dark adapted electroretinogram 0.5814184016912395 0.8304837377039435 0.4062653386055501 1.0 0.7889748318394088 5 P00846 1 |
| Medial flaring of the eyebrow 0.5210329825922775 0.8304449979699451 0.4062872331809135 1.0 0.7889748318394088 7 Q13049,O15078 2 |
| Specific learning disability 0.3247403320602325 0.8291437687060416 0.407023059381514 1.0 0.7892388074668546 71 Q8N3U4,O75419,O00192,Q9Y619,Q96EK5,P11166,Q5THJ4,Q8N0X7,O95714,Q10713,Q9H6K4,Q9BPX6,Q96RR1,Q8WYQ5,P00403,P03886,O00754,Q96L73,Q9Y2U8,P52732,O43505,Q9H9S5,P62266,Q8NAT1,Q01082,P42356 26 |
| Depression 0.3194266588268273 0.8287032244841664 0.4072723607285382 1.0 0.7892388074668546 116 P31040,P35637,Q8N3U4,Q71SY5,O00192,P06280,P11166,Q14203,Q5JTZ9,Q96RR1,Q6DKK2,P00403,P03886,P20700,O00754,P55011,P07602,Q15056,P50897,Q7LG56,Q9Y4W6,Q9UBB6,P04062,P11274,Q96N66,Q14139,Q68CQ7,P54277,Q6PJT7,Q15165,Q01082,O43681,Q9NWW5,Q9NUQ7,Q9UIG0 35 |
| Aplasia hypoplasia of the clavicles 0.4561796080131734 0.8264086140496634 0.4085723386258415 1.0 0.7900469447604133 13 O75419,P02545,O75431,Q9Y619,O75844 5 |
| Germinoma 0.6087748728715802 0.8261668348209003 0.4087094588345241 1.0 0.7900469447604133 4 P31749 1 |
| Paranoia 0.5506959981595074 0.8242296865139888 0.4098090621137698 1.0 0.790834960322066 6 P50336 1 |
| Increased circulating gonadotropin level 0.4869468149310816 0.8235041736724301 0.410221344720767 1.0 0.790834960322066 9 Q8IY37,P57740,P51809 3 |
| Vertebral wedging 0.6282967032967045 0.8233510510901693 0.4103083902165916 1.0 0.790834960322066 3 Q96AY3,Q8WVQ1 2 |
| Weak voice 0.5501949199942666 0.8221668108009895 0.4109819651443991 1.0 0.7913346018446393 6 P04062,O75787,Q14203 3 |
| Recurrent pneumonia 0.4002142195312477 0.8219350508555754 0.4111138628808037 1.0 0.7913346018446393 22 Q71SY5,P00813 2 |
| Decreased circulating level of specific antibody 0.4695367030629594 0.8215407656815866 0.4113383136718607 1.0 0.7913346018446393 10 P00813 1 |
| Abnormality of earlobe 0.3732281159699033 0.8212250605735834 0.4115180843945947 1.0 0.7913346018446393 32 P98175,Q15392,Q96N67,P10586,P11274 5 |
| Abnormal middle phalanx morphology of the hand 0.5030090976523688 0.821099921067081 0.4115893549942959 1.0 0.7913346018446393 8 P02545,Q9Y448,Q9UHX1,Q15233 4 |
| Muscle fibrillation 0.4355834515577419 0.8198523826489069 0.4123002648891156 1.0 0.7923735859965758 15 P51114,Q9NQT5,Q9BQT8,O95831,Q92734,Q9NWS8 6 |
| Hemivertebrae 0.4546079955371592 0.8180143721667146 0.4133489807117909 1.0 0.7930770905729531 13 O60826,Q9Y619,Q9UHX1,Q8N3U4 4 |
| Red green dyschromatopsia 0.6266072875176116 0.8170153478640043 0.4139196571927224 1.0 0.7933446407847858 3 O60313 1 |
| Mask like facies 0.4347654943105929 0.8151764148622437 0.4149713361242637 1.0 0.7933446407847858 15 Q9H9S5,Q13049,O75787,Q14203 4 |
| Aplasia hypoplasia of the 5th finger 0.4347554120959293 0.8151187964197177 0.4150043133942884 1.0 0.7933446407847858 15 Q12824,Q9UQE7,Q9UHX1,P51532,Q68CP9,O75147,Q8TAQ2,O00443 8 |
| Buphthalmos 0.6058197629208988 0.8149021601270965 0.4151283166081296 1.0 0.7933446407847858 4 Q9H9S5,P31749 2 |
| Abnormal vena cava morphology 0.463309358698426 0.8118150220570137 0.4168977809780494 1.0 0.795288993516008 11 P98175 1 |
| Mandibular aplasia 0.575767082765319 0.8081649801053008 0.4189956146272804 1.0 0.797754819572115 5 P53701,Q9Y619,O75419 3 |
| Abnormal oral physiology 0.3324157456496693 0.8077744861351694 0.4192204151915439 1.0 0.797754819572115 60 Q9NR77,P55795,P55011,Q15233,Q8N0X7,Q68CQ7,P35637,Q02241,O75787,P15586,Q14739,Q14203,P06753,Q03252,Q15165,Q01082,P42356,Q14738 18 |
| Unusual infection by anatomical site 0.4120827383032874 0.8070072566748394 0.4196623023499852 1.0 0.798268816627254 17 Q9BUB7,P02786,Q9NZ08,Q14739 4 |
| Short chin 0.4658360375841279 0.8031948851275791 0.4218621014014778 1.0 0.800368326797775 10 O75844 1 |
| Abnormal shoulder morphology 0.3623498839928049 0.8025312233206285 0.4222457345646511 1.0 0.800368326797775 34 P55011,Q15056,Q7RTS9,P02545,Q6ZXV5,Q8N3R9,O75175,Q9UIG0 8 |
| Pectus excavatum 0.3254217739871866 0.8024618974143851 0.4222858205566426 1.0 0.800368326797775 83 O00754,Q9UQE7,Q15555,Q9UHX1,Q8NCH0,P98175,Q15056,Q96L58,Q9Y487,Q9NWH9,Q15437,O75718,P02545,P06753,O75431,Q9Y366,Q969N2,Q9UIG0 18 |
| Full cheeks 0.3549494601973124 0.8022098510337814 0.422431578939584 1.0 0.800368326797775 40 Q9UHX1,O15078,Q96JJ3,P52732,P02545,O75431,Q9Y366 7 |
| Inflammatory abnormality of the eye 0.34801388553942 0.8018936554158792 0.4226144764977206 1.0 0.800368326797775 44 P02786,P28070,Q9NZ08,Q14739,P14174,O15484,P78536 7 |
| Radioulnar synostosis 0.397178386011307 0.8016842430203243 0.4227356327894656 1.0 0.800368326797775 22 Q9UQE7,Q15056,Q8WVQ1,Q96L58,O96028 5 |
| Hemorrhage of the eye 0.4565960558614889 0.8014046919743448 0.4228973997506902 1.0 0.800368326797775 12 Q9Y487,O15484,P35222,P49792 4 |
| Emg neuropathic changes 0.3907854860130215 0.8012186419784393 0.4230050808296397 1.0 0.800368326797775 26 Q9NR77,P07602,P39210,O43681 4 |
| Exostoses 0.5449190013609468 0.8004979616472155 0.4234223440723665 1.0 0.8005450068444153 6 P48735 1 |
| Colorectal polyposis 0.4610174805234372 0.8001936827158904 0.4235985893673852 1.0 0.8005450068444153 11 P20585,Q15437 2 |
| Stillbirth 0.4650850688242607 0.7994786535718881 0.4240129194654543 1.0 0.8009707466487668 10 P02545,O75844,Q14739 3 |
| Severely reduced visual acuity 0.6011399872379739 0.7971221031373062 0.425380120604395 1.0 0.8028790750310253 4 O15078 1 |
| Abnormal circulating free fatty acid concentration 0.6010667141884698 0.7968443066175822 0.4255414593934614 1.0 0.8028790750310253 4 O75431 1 |
| Thoracic kyphoscoliosis 0.5438162801077051 0.7959812186175915 0.4260429518911368 1.0 0.8031730618410194 6 O75844 1 |
| Gastroparesis 0.4803862993440698 0.7925512011639685 0.4280393495980394 1.0 0.8049772794747428 9 Q9BUB7,Q96RR1 2 |
| Bilateral talipes equinovarus 0.5716171376441151 0.7918441499218319 0.4284515555890444 1.0 0.8054265286497936 5 Q15392 1 |
| Hypopigmented skin patches 0.3803758248618054 0.7914592737383557 0.4286760327815979 1.0 0.8055226544019756 29 P07602,O15287,Q8IZA0,Q15437,O00192 5 |
| Multiple prenatal fractures 0.4957352528413972 0.7883783739181691 0.430475416681082 1.0 0.8075798951240115 8 P06753,O75718 2 |
| Myopia 0.3175953052360248 0.788335919155393 0.4305002427497202 1.0 0.8075798951240115 114 Q13045,P98175,Q9HD42,O75419,Q9Y366,A2RRP1,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,Q13868,Q969N2,O14936,O00754,Q15056,Q15233,P52732,P30533,Q9H9S5,O75530,Q9UQE7,Q15555,Q13555,Q15437,Q93009,Q9UIG0 27 |
| Abnormal adipose tissue morphology 0.3286173787897957 0.7880973531351465 0.4306397633133851 1.0 0.8075798951240115 63 P04066,Q9Y487,P28070,P52732,Q03252,P02545,Q15437,O75431,P09493,O75844 10 |
| Severe global developmental delay 0.3231719688291282 0.7866459885878783 0.4314891300023136 1.0 0.8086174131505867 78 P03886,P07942,P55263,O00584,P00846,Q7RTS9,Q71SY5 7 |
| Abnormal mitochondria in muscle tissue 0.3858638772969822 0.7862089863046638 0.4317450623051959 1.0 0.8086174131505867 27 P03886,O43676,O75306,O75251,O75380,Q96CU9,P00403 7 |
| Loss of eyelashes 0.6181292857465537 0.7853693123817512 0.4322370678429217 1.0 0.8086174131505867 3 O75844 1 |
| Pelvic kidney 0.4786780153394515 0.7845195513113729 0.4327353143613957 1.0 0.8092237448037849 9 Q9UHX1,Q15056 2 |
| Abnormality of secondary sexual hair 0.494616806752931 0.7833653720329532 0.4334125847078547 1.0 0.8101642321550285 8 P57740,P51809 2 |
| Impaired smooth pursuit 0.4290083358881632 0.7823500282822422 0.4340088931455832 1.0 0.8104338519757445 15 O00754,P41440,P11177 3 |
| Progressive microcephaly 0.3350851864751313 0.7822289716163444 0.4340800209958313 1.0 0.8104338519757445 49 P11166,P50897,Q9Y487,O75419,Q5KU26,Q9BSJ2,Q13813,O14936 8 |
| Female reproductive system neoplasm 0.3946651211417692 0.7791068638241856 0.4359167671982948 1.0 0.8131633956035824 21 Q15437,P20585,O60566,P31749 4 |
| Subcortical band heterotopia 0.5679768963467543 0.7775785394299246 0.4368175166811552 1.0 0.8132803447468182 5 P07942 1 |
| Capillary hemangioma 0.4931387802458616 0.7767485976390692 0.437307108781765 1.0 0.8132803447468182 8 Q9UBM7,Q9UHX1 2 |
| Patellar aplasia 0.5957400330044407 0.7767004917519797 0.437335496673318 1.0 0.8132803447468182 4 Q9Y619,O75419 2 |
| Abnormal visual field test 0.5390894337220888 0.7766707019895253 0.4373530765201896 1.0 0.8132803447468182 6 P00846,P35222,P31749 3 |
| Meningioma 0.4604649210081823 0.7766678449972932 0.4373547625397673 1.0 0.8132803447468182 10 P02545,Q15437 2 |
| Cerebral hemorrhage 0.4375208279342906 0.7758032745485222 0.4378651502256949 1.0 0.8139037412395217 14 P05067 1 |
| Abnormality of the gingiva 0.3343615977887944 0.7753306677339512 0.4381442921562821 1.0 0.8140969714715087 49 P16278,P20700,O00754,Q14108,Q15056,Q96JJ3,Q15392,Q14739,P08236,Q9UBM7 10 |
| Ascites 0.386902533871801 0.7740995993218042 0.4388718944158438 1.0 0.8143368770865682 26 Q13043,O60566,Q14108,O15118,P61916,O75787,Q14739,P08236,P04062,Q01844 10 |
| Personality changes 0.4173502174276826 0.7738399300172145 0.4390254561962008 1.0 0.8143368770865682 16 P03886,P20700,Q14203,P49770,P00403 5 |
| Aplasia hypoplasia of the ovary 0.3954663608112497 0.7736300356582723 0.4391496049018593 1.0 0.8143368770865682 18 Q13049,O15078,P51809 3 |
| Focal segmental glomerulosclerosis 0.3904035404151856 0.7714440713516342 0.4404437610750091 1.0 0.8160853898387431 24 P03886,Q14108,O75431,O43707 4 |
| Wide nasal bridge 0.3006073387606156 0.768934448128327 0.4419322261296892 1.0 0.8172474673716671 167 Q13045,Q01105,O15344,P98175,P02545,Q8N201,Q5KU26,Q8N3R9,Q9Y366,Q9UBM7,O00192,Q96EK5,P11166,Q9UHX1,Q9Y487,Q9BUB7,Q6PGP7,Q969N2,Q5H8A4,P29372,O14936,P20700,P55011,O95155,Q15056,P52732,Q9Y448,O75530,O96028,O15228,Q15555,Q8WWY3,Q9NX62,P46783,Q01082,O60826,O75175,Q9UIG0 38 |
| Pain insensitivity 0.5656744777233395 0.7685811885314378 0.4421419763807328 1.0 0.8172474673716671 5 P39210 1 |
| Dermal translucency 0.4751189084348101 0.7678260842335596 0.4425905155926655 1.0 0.8174452025845419 9 P02545,O75844 2 |
| Large intestinal polyposis 0.4498739526865373 0.7666010216628145 0.4433187678558594 1.0 0.8178078033232531 12 P20585,Q15437 2 |
| Pituitary prolactin cell adenoma 0.6129120879120891 0.7660254263749048 0.4436611732683282 1.0 0.8178078033232531 3 O00170,P25490 2 |
| Short femur 0.5357832446134646 0.7632148660615754 0.4453352643662169 1.0 0.8199179768263908 6 Q9UHX1 1 |
| Punctate cataract 0.5915217499299452 0.7608223952876384 0.4467631560069085 1.0 0.8199823223915497 4 P08670 1 |
| Abnormal renal pelvis morphology 0.3278386586405646 0.7604406152159326 0.4469912535175315 1.0 0.8199823223915497 60 P20700,Q8NCH0,O95155,P98175,O60826,P23786,O43505,O75718,Q71SY5,Q9UBM7 10 |
| Thickened calvaria 0.4570415619333938 0.7598272400546137 0.447357858015291 1.0 0.8199823223915497 10 Q7RTS9 1 |
| Autoimmune thrombocytopenia 0.4570323013653043 0.7597817586760303 0.4473850483124884 1.0 0.8199823223915497 10 P00813 1 |
| Submucous cleft soft palate 0.6111755364621596 0.7596101287435296 0.4474876629190811 1.0 0.8199823223915497 3 Q15233 1 |
| Acute coronary syndrome 0.3907285006380401 0.7588353866198266 0.4479510344937205 1.0 0.8205078664928337 22 P35579,Q15056,Q9NZ08,P02545,O75844,P06280 6 |
| Thick corpus callosum 0.6104025764822405 0.7567584582437248 0.4491945849295433 1.0 0.8214178898793459 3 Q15233 1 |
| Hypoparathyroidism 0.4141489595121127 0.7550016488195705 0.4502479929071892 1.0 0.8214178898793459 16 P03886,Q969N2,O00192,P00403 4 |
| Spinal cord lesion 0.4723226134052319 0.7547501369078398 0.4503989174794518 1.0 0.8214178898793459 9 O00400,O75298,Q9Y2U8,P35222 4 |
| Abnormality of lower limb joint 0.3073811381534492 0.7544667350742621 0.4505690125462562 1.0 0.8214178898793459 185 Q86XL3,Q9HD42,Q7RTS9,Q8TD16,P02545,P06753,O75298,Q9Y366,Q9UBM7,O00192,Q9NR77,P16278,Q9UHX1,Q8WVQ1,Q8N0X7,Q96L58,Q9Y487,O75787,O75718,O95831,Q6ZXV5,Q969N2,O00754,P55011,P07602,Q15056,P23786,Q03252,Q9H9S5,P08236,O75431,P51798,O96028,Q9UQE7,Q9NX62,Q01082,Q96HY6,Q9NUQ7,O75844,Q9UIG0 40 |
| Dicarboxylic aciduria 0.3783733279863323 0.7538420893360375 0.4509440473650636 1.0 0.821640337424506 28 P49748,P23786,O43772,O14678,P48735,Q9NUN5 6 |
| Bloody diarrhea 0.4870530173561171 0.7496033362358792 0.4534936409019132 1.0 0.8244855044096991 8 P78536,Q6PGP7,Q02241 3 |
| Abnormality of the thyroid gland 0.3115754627825162 0.7474661609396411 0.4547822216672896 1.0 0.8247390253740803 119 Q13045,Q8N3U4,O76024,P02545,P42224,O00192,Q14683,O60313,O60566,Q13868,P42892,P55265,O14654,P00813,Q6PGP7,Q96RR1,Q96L73,P03886,P00403,Q13043,P20585,O95155,Q15046,Q15056,Q7LG56,O95470,P48735,O00443,P35222,P31749,P04066,P27635,Q13423,P54277,Q15437,Q9UIG0 36 |
| Infantile muscular hypotonia 0.3189006471427413 0.7470474291154858 0.4550349317623692 1.0 0.8247390253740803 75 P16278,P03886,O00754,P07602,P49748,Q9Y487,P00846,Q9H9S5,P10253,Q9GZY8,O14936 11 |
| Agenesis of corpus callosum 0.3207027679105074 0.7460370855750462 0.4556450127094988 1.0 0.8247390253740803 95 Q86XL3,O15344,Q71SY5,Q9HC21,O60566,Q9UHX1,P80404,Q15392,Q9NXR1,Q5H8A4,P29372,P03886,Q9Y3D3,P55011,O95155,P23786,O43505,P11177,Q9H9S5,O96028,Q9Y3C6,P35606,Q8NAT1 23 |
| Generalized myoclonic seizure 0.3398694841740979 0.7460265474496702 0.4556513784246401 1.0 0.8247390253740803 45 Q05639,P11166,P16278,Q01105,O60566,P03886,P07602,Q96N66,P00846,Q969N2,Q9Y4W6,Q9Y448,Q8NHS3,Q9NXR1,P04062,Q9Y619,Q96L73 17 |
| Extrapyramidal muscular rigidity 0.5012951938475958 0.7453737053003714 0.456045835240479 1.0 0.8247390253740803 7 Q9BPX6,Q9H6K4,O75787 3 |
| Decreased activity of mitochondrial complex i 0.3521941654468665 0.745209107056483 0.4561453182256278 1.0 0.8247390253740803 37 P03886,Q70HW3,Q9UBX3,O43676,O75380,Q96CU9 6 |
| Lymphopenia 0.3738636495172442 0.7438152598869799 0.4569882469179354 1.0 0.8256704445675139 29 Q13432,Q13043,P26038,P28070,P42224,Q9Y448,O95470,P00813,Q6PGP7 9 |
| Aplasia hypoplasia of the optic nerve 0.3819590010762266 0.7397217133953093 0.459468870062623 1.0 0.8285416527671747 26 Q9UHX1,Q8N3U4,Q9Y448,Q9H9S5,Q9NXR1,P07196,O14936 7 |
| Short digit 0.2965206364751517 0.7393970407716869 0.4596659386784862 1.0 0.8285754914813521 162 Q7RTS9,P02545,Q8N3R9,Q9Y366,Q9UBM7,P11166,Q9UHX1,Q8WVQ1,Q8N0X7,O95831,Q14739,Q13868,P00813,O14936,Q9Y3D3,P55011,O95155,Q03252,Q9Y448,P51798,O96028,P11274,Q9UQE7,Q9NX62,Q13555,P46783,Q15437,Q96RK4,O60826,O75844 30 |
| Focal impaired awareness seizure 0.3884812483077002 0.7385820071488686 0.4601608532891172 1.0 0.8287054885183968 21 Q05639,Q01105,Q96JM3,Q00610,P22466,Q96CW1,Q96N67,Q96L73,P19022,P67870 10 |
| Abnormality of the cervical spine 0.3095563746871796 0.7380340247307485 0.460493773375775 1.0 0.8287054885183968 121 Q7RTS9,Q8N201,O00192,Q9UBM7,Q96EK5,P16278,A2RRP1,P11166,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,P15586,O95831,Q13049,O00754,O15078,Q9Y448,Q9H9S5,P08236,Q9UQE7,Q15555,P04066,Q96RK4,P46783,Q96HY6,O60826 27 |
| Aggressive behavior 0.3189219419852397 0.7376598613530749 0.4607211691799269 1.0 0.8287054885183968 78 Q05639,Q71SY5,Q9BRT2,P54802,O75503,Q9UBM7,P11166,O95714,Q10713,Q8WYQ5,Q6DKK2,Q96L73,Q15233,P52732,P17480,P35222,P55795,Q01082,Q93009,P23378 20 |
| Oral cavity bleeding 0.4994532154394292 0.7375169417112682 0.4608080444010194 1.0 0.8287054885183968 7 Q6UN15,Q14980,Q02241,P40763,Q9BZK7 5 |
| Delayed cranial suture closure 0.3729097371592627 0.73686394309977 0.4612050930314562 1.0 0.8290986720762773 29 Q9UQE7,Q8NCH0,O95155,Q9Y487,O75718,P02545,O75431,O75844 8 |
| Abnormality of the alveolar ridges 0.4975245239372041 0.7293071298378323 0.4658138119195096 1.0 0.833829141555585 7 Q15392,P98175 2 |
| Tented upper lip vermilion 0.3828431260331065 0.7290195053245045 0.4659897311426413 1.0 0.833829141555585 25 Q13045,Q4J6C6,Q71SY5,Q96F07,Q969N2 5 |
| Recurrent acute respiratory tract infection 0.6022562322730428 0.726854317634625 0.4673152043488766 1.0 0.8352012551596362 3 Q03518 1 |
| Hemiparesis 0.3877161935020229 0.7263715600942752 0.4676110210477886 1.0 0.8352012551596362 19 P03886,P11166,O60313,Q9NZ08,P00403 5 |
| Abnormal aortic valve physiology 0.3430019891493176 0.7262994938800389 0.4676551895686192 1.0 0.8352012551596362 42 P16278,O00754,O60566,Q9UHX1,Q15056,Q9NZ08,P02545,Q01082,Q6ZXV5,O60826,O75844,P11274,Q9UIG0 13 |
| Hepatitis 0.387067588714765 0.7252326324994285 0.4683093265384066 1.0 0.8352676763029563 20 P11717,Q9Y2V7,Q9NWH9,P42224,P08236,Q9Y619,P35222 7 |
| Myoclonic seizure 0.3243786557779528 0.7248167104717984 0.4685644827790454 1.0 0.8352676763029563 60 Q05639,Q01105,O75503,Q9Y619,P16278,P11166,O60566,Q8NHS3,Q9NXR1,Q969N2,Q96L73,P03886,P07602,P00846,Q9UBB6,Q9Y4W6,Q9Y448,Q9Y3C6,Q96N66 19 |
| Unsteady gait 0.326150824691289 0.7241875762487824 0.4689505847803772 1.0 0.8352676763029563 55 Q05639,P31040,Q9NR77,P11166,Q5THJ4,O95714,O75569,Q8N3U4,O75787,Q10713,O95831,Q96F07,Q9H6K4,O75503,P07196,P49770,Q14738 17 |
| Acetabular dysplasia 0.445677810989624 0.723024251640463 0.4696649848218626 1.0 0.8358993429594774 11 P16278,Q96L58 2 |
| Aphasia 0.3408485346360289 0.7220989395302737 0.4702336501568478 1.0 0.8362917882834733 43 P03886,P55011,P17480,O96008,Q8N3R9,O00192,P05067,P00403 8 |
| Ulnar deviation of finger 0.4808271276928735 0.7220103394308353 0.4702881207061558 1.0 0.8362917882834733 8 Q96L58,Q9UBM7 2 |
| Infectious encephalitis 0.4449718533144641 0.7195014838176539 0.4718319883073989 1.0 0.8371910078902187 11 Q9NZ08,Q14739 2 |
| Retinal dystrophy 0.3219996399117649 0.7183143862108298 0.4725634617618071 1.0 0.8377134474572109 63 P03886,Q15051,O15078,P00846,O43505,P52732,Q13868,Q6P4Q7,Q8NHS3,Q9H9S5 10 |
| Status epilepticus 0.3259685008892933 0.7181200709790917 0.4726832556178282 1.0 0.8377134474572109 52 P11166,P07602,Q9Y487,Q15392,P52732,Q03252,P42892,Q96RR1 8 |
| Holoprosencephaly 0.4078061554597771 0.7178536834756452 0.4728475086464954 1.0 0.8377134474572109 16 Q9UBM7,Q9H9S5,O60566,O15078 4 |
| Aplasia hypoplasia of the skin 0.3241045140342444 0.7171609733814722 0.4732747768091172 1.0 0.8381508718871828 59 Q8NCH0,Q96L58,Q15392,P02545,Q13126,O75431,O96028,O75844 8 |
| Severe postnatal growth retardation 0.439640252535556 0.714042155076081 0.4752011129614146 1.0 0.8396424227877164 12 O96028,Q9UQE7,P27635,O76024 4 |
| Short palm 0.3817049682914522 0.7127007143726568 0.4760309743422373 1.0 0.8400227757733639 24 P02545,Q13555,P11274,Q9UHX1 4 |
| Mandibular prognathia 0.3380113943139378 0.7126090558387282 0.4760877064451152 1.0 0.8400227757733639 44 P16278,Q13045,O00754,P55011,Q9UHX1,O95714,Q7RTS9,Q8N3U4,P52732,Q71SY5,O75175,Q96L73 12 |
| Basal ganglia calcification 0.4473038155008136 0.712241568855183 0.4763151999369925 1.0 0.8400227757733639 10 P03886,O60313 2 |
| Loss of ability to walk 0.3965697858128415 0.7122334774075281 0.4763202096326262 1.0 0.8400227757733639 17 Q96RR1,Q9H9S5,P00846 3 |
| Obstructive sleep apnea 0.4433718515908648 0.7115277302638813 0.4767572732053811 1.0 0.8401776368268753 11 P51114,Q969N2,Q15233 3 |
| Urethral stricture 0.5980449478747599 0.7115077970113146 0.4767696208978846 1.0 0.8401776368268753 3 O75419 1 |
| Sloping forehead 0.3243992623561462 0.7092822427186257 0.4781493456273993 1.0 0.8416515186100472 56 Q86XL3,O60566,P98175,O15078,P23786,P35606,Q8N3U4,P52732,Q9H9S5,Q9BSJ2,Q9NXR1,Q15021,O15287,Q9HC21,Q96EK5,Q16625,O14936 17 |
| Generalized hypopigmentation 0.4465327241296301 0.7084951739232178 0.4786378081227791 1.0 0.8418735406307928 10 O95714,Q6PGP7,Q9Y2U8,Q86YV9 4 |
| Peters anomaly 0.5769525305744267 0.7065348780570201 0.4798555707042435 1.0 0.8433770185562102 4 P19022,Q9H9S5 2 |
| Pulmonary hypoplasia 0.3715330727414624 0.7049236962846166 0.4808577226258503 1.0 0.8444995604846284 28 P98175,Q96L58,Q14739,P02545,P25705,Q9UBM7,O75844 7 |
| Limb dysmetria 0.5961503368232764 0.7046298294466131 0.4810406300664072 1.0 0.8445016274720794 3 Q7LG56 1 |
| Abnormality of the brainstem white matter 0.5761004821777116 0.703388507836193 0.4818136664117864 1.0 0.8455007479040554 4 P20700,O15078 2 |
| Abnormality of the phalanges of the toes 0.3839793098613984 0.7025479237821748 0.4823375258647839 1.0 0.8455007479040554 19 Q8WVQ1,P02545,Q71SY5,O75431,O75844 5 |
| Endocarditis 0.5204426855514847 0.7013886922716608 0.4830604768598259 1.0 0.845652264858182 6 Q9NZ08 1 |
| Dolichocephaly 0.3401016072085506 0.7011597937300645 0.4832032982342975 1.0 0.845652264858182 42 Q4J6C6,O95714,O96028,Q7RTS9,O15287,Q8N201,Q01082,P42356,Q9Y366,Q5H8A4,O75175,P31749 12 |
| Aplasia hypoplasia of the cerebral white matter 0.4408558095515739 0.6990186384967413 0.4845403828805925 1.0 0.8456896556205606 11 P03886,P11166 2 |
| Thoracic scoliosis 0.4366661856733421 0.6988766406617779 0.4846291269458904 1.0 0.8456896556205606 12 P02545,O75844,Q9UHX1 3 |
| Carious teeth 0.3239184817027049 0.6983643976423527 0.4849493354908778 1.0 0.8458543035450447 50 P16278,Q9Y366,Q15555,Q15056,O95714,Q9Y487,Q96L58,Q6P4Q7,P51798,O00192,P31749,Q9UIG0 12 |
| Patellar dislocation 0.381031952720727 0.694949354119441 0.4870870413669319 1.0 0.8475508293316526 22 Q15056,Q8WVQ1,Q9NX62,Q6ZXV5,O00192 5 |
| Hyperreflexia 0.3285938554424262 0.6890764542355203 0.4907751564067879 1.0 0.8513150033686848 259 Q99720,Q86XL3,Q9HD42,Q7RTS9,Q8TD16,Q5KU26,O75298,O75027,O14773,O75503,Q9Y619,Q7KZN9,Q16625,Q9NR77,Q5THJ4,O60313,O00400,P11166,Q8N0X7,Q9BQT8,O75787,P80404,O95831,O75251,Q14203,Q14739,Q9H6K4,Q9NXR1,Q969N2,Q13813,Q6DKK2,P50336,P03886,P20674,P20700,O14936,O00754,P07602,Q15233,Q15056,P55011,P00846,Q9Y4W6,Q96F07,Q9H9S5,O15287,Q9BX67,Q96CU9,Q9Y3C6,Q96N66,Q15555,Q8WWY3,O75569,Q9NZ08,Q9NQT5,P35606,O75306,Q01082,Q9BSJ2,O43681,P42356,P23378,Q9GZY8,Q9UIG0 64 |
| Pectus carinatum 0.3453582928415196 0.689062521483201 0.4907839238271372 1.0 0.8513150033686848 37 P16278,O00754,P55795,P55011,Q96L58,Q7RTS9,Q71SY5,P08236,P17480 9 |
| Absence of subcutaneous fat 0.5171006335483085 0.6880651131319295 0.4914117785623921 1.0 0.8513474180118783 6 O75844 1 |
| Elevated circulating follicle stimulating hormone level 0.5910294911534855 0.6861244286206402 0.4926346475218293 1.0 0.8513474180118783 3 P51809 1 |
| Abnormality of the plantar skin of foot 0.3348361258592251 0.6845003691256901 0.4936592563645887 1.0 0.8524840447143233 44 Q9Y487,P16615,Q15437,O75431,P09493 5 |
| Mania 0.3810104691090988 0.6836971562743104 0.4941664195535518 1.0 0.8529587060738328 19 P03886,P16615,Q7LG56,O00192,Q96RR1 5 |
| Abnormal ovarian physiology 0.3684577263815707 0.6830650956937332 0.4945657099655296 1.0 0.8529587060738328 28 P02545,Q15051,O75844,O15078 4 |
| Abnormal tongue physiology 0.3808951811358099 0.6829665653867838 0.4946279698631344 1.0 0.8529587060738328 19 P51114,Q9BQT8,O95831,P10253,Q9NWS8 5 |
| Osteopetrosis 0.5897120733004391 0.6813841799355476 0.4956284304289371 1.0 0.8530315985938041 3 Q15392 1 |
| Metrorrhagia 0.4853757446942295 0.6780191668461287 0.4977595406278443 1.0 0.8545796395278957 7 Q6UN15,P40818,Q14980,P40763,Q9BZK7 5 |
| Abnormality of fibula morphology 0.4280472043478751 0.6779314348900269 0.4978151676785052 1.0 0.8545796395278957 13 Q9NWH9,O75431,Q96HY6 3 |
| Skin nodule 0.3774894721641362 0.6775161861592366 0.4980785038813962 1.0 0.8546866699571123 23 Q9NZ08,P16615,Q15437,P52732,P06280 5 |
| Mild postnatal growth retardation 0.5287009063444024 0.6772531347459544 0.4982453602138621 1.0 0.8546866699571123 2 P10644 1 |
| Abnormal paranasal sinus morphology 0.3702028321331478 0.6760331389408727 0.4990196052020224 1.0 0.8552941234494585 27 P00813,P28070,O00754,P04066 4 |
| Low frustration tolerance 0.4703142023524866 0.6758722034590013 0.4991217872688347 1.0 0.8552941234494585 8 P04062,Q9UHX1 2 |
| Decreased plasma carnitine 0.4318482007612397 0.6744239597385214 0.5000418142599543 1.0 0.8558726743521208 12 O43772 1 |
| Aplasia hypoplasia affecting the fundus 0.3670354057360671 0.6729866927447218 0.5009557569209169 1.0 0.856503573902547 28 Q9UHX1,Q8N3U4,Q86YV9,Q9Y448,Q9H9S5,Q9NXR1,P07196,O14936 8 |
| Lipoma 0.4838174870035817 0.6714976619983607 0.5019035483870962 1.0 0.8571649354483042 7 P31749,P27635,Q15437 3 |
| Sleep disturbance 0.2898414128146747 0.669400624383775 0.5032399534350551 1.0 0.8585007575670709 157 Q05639,Q13045,Q01105,O75175,P51114,Q8N3U4,Q71SY5,P06753,Q8N3R9,P54802,O75503,Q9UBM7,P11166,Q9UHX1,Q8N0X7,O95714,P15586,Q14203,O95831,Q8NHS3,Q96RR1,Q969N2,Q96KP1,O14936,P55011,Q15056,Q15233,P50897,P52732,Q9UBB6,Q9H9S5,P04062,P31749,P35222,Q96N66,Q14139,Q9UQE7,Q01082,Q93009,Q9NUQ7,P07196,Q9UIG0 42 |
| Fatigue 0.3143014443069556 0.6679701351638647 0.5041526562358665 1.0 0.8591116221225051 86 Q70HW3,P07602,Q68CQ7,Q4J6C6,Q13423,Q9NZ08,Q9NWH9,Q15165,Q14203,Q14739,Q01082,P06753,Q96RR1,Q969N2,P11274,P06280 16 |
| Abnormal circulating cholesterol concentration 0.3532278895240722 0.6673454858585006 0.5045514783719249 1.0 0.8594760703791551 32 P07602,P61916,Q15392,Q14739,P02545,O75431,Q9UBM7 7 |
| Neoplasm of the rectum 0.378349405357379 0.6654895714581549 0.5057374115054052 1.0 0.8605498906135547 18 P31040,P20585,P54277,Q15437,P31749 5 |
| Abnormal umbilicus morphology 0.3118123966698149 0.6610033196402224 0.50861018466972 1.0 0.8635409310048188 69 O00754,Q15555,Q8NCH0,Q15056,Q9BUB7,Q9Y487,Q96JJ3,Q14739,P02545,Q9Y448,P08236,O75530,O00192,O75844,O14936 15 |
| Reduced tendon reflexes 0.3014671119986584 0.6599267343243955 0.5093008470861213 1.0 0.864397748871149 185 Q13045,Q99720,P51114,Q8TD16,Q71SY5,P02545,P06753,P10253,P39210,P54802,Q9HC21,Q9NR77,O60313,Q7Z406,Q9BQT8,O75787,O95831,Q9H6K4,Q96RR1,Q5H8A4,Q13049,P50336,P03886,P07602,Q15046,P00846,O43505,Q7LG56,Q96F07,P11177,Q9H9S5,P41440,Q9NWS8,Q8NAT1,Q5TAQ9,O43681,O00764,P23378,P07196 39 |
| Genital neoplasm 0.3283302602083004 0.6594251783902869 0.509622778200622 1.0 0.8646283498715919 46 P20585,O60566,Q13423,P51809,Q92878,P35222,Q15437,Q01844,P02545,P48735,Q9Y6D9,P31749,Q96L73 13 |
| Increased circulating lactate dehydrogenase concentration 0.4159390137768642 0.6587280081715797 0.5100704441274337 1.0 0.8650720269562718 14 P23786,P41440 2 |
| Infection related seizure 0.3757604259238576 0.6561066810802088 0.5117554860026226 1.0 0.867185468091994 21 P20700,P11166,Q96N66,Q01082,P05067 5 |
| Abnormal echocardiogram 0.5087863860958708 0.6551712086492987 0.5123575291336313 1.0 0.867185468091994 6 Q96RR1,P49748 2 |
| Abnormal larynx physiology 0.4061337867231551 0.6537616510401114 0.5132653768287916 1.0 0.867185468091994 15 Q68CQ7,P35637,Q15165,Q14203,Q92804,Q9H0U9 6 |
| Decreased circulating antibody level 0.3214726467565182 0.6535049759452771 0.5134307825635731 1.0 0.867185468091994 49 O00754,P26038,P02786,O75787,P14174,Q9Y448,P00813,Q969N2 8 |
| Generalized onset motor seizure 0.3181052585941694 0.6525612530734832 0.5140391719144728 1.0 0.8673711081650526 58 Q05639,Q01105,Q96N67,Q9Y619,P16278,P11166,O60566,Q8NHS3,Q9NXR1,Q969N2,O14936,P03886,Q96L73,P07602,Q15046,P00846,Q9Y4W6,Q9Y448,Q96N66 19 |
| Facial diplegia 0.4228715092802604 0.6511183732601737 0.5149700769712986 1.0 0.868311301772723 13 Q96RR1,P06753,Q9H9S5,Q7LG56 4 |
| Cerebellar malformation 0.3096809282541954 0.6506517044345134 0.5152713457529425 1.0 0.8685041507848835 73 O00754,O60566,Q15056,Q15233,O15078,P23786,Q9Y487,O60826,O43505,O75419,Q8NAT1,P15291,Q9H9S5,Q9UBM7,Q9UIG0 15 |
| Protruding ear 0.3232884736766527 0.650282418125539 0.5155098118604715 1.0 0.8685910426815123 48 P20700,Q8NCH0,Q15056,Q13555,O43505,P52732,Q8NAT1,Q01082,Q9Y448,Q9H9S5,Q9BSJ2,Q9UIG0 12 |
| Diaphragmatic weakness 0.5338799879565096 0.6466961691977043 0.517828602895311 1.0 0.8710633270631294 5 Q9NR77 1 |
| Variable expressivity 0.3125094196691867 0.6458958055186124 0.5183468362349264 1.0 0.8710633270631294 87 Q8TD16,P02545,P06753,Q9NR77,Q5THJ4,P11166,Q70HW3,Q8WVQ1,Q13868,Q9H061,Q13813,P00403,P03886,P07602,P52732,O43707,Q9Y4W6,Q6P4A7,Q9H9S5,Q9NWS8,Q9NQT5,P07196,Q9UEY8 23 |
| Renal cyst 0.309976240933369 0.6458771522841785 0.5183589173504712 1.0 0.8710633270631294 75 O00192,Q9UBM7,O60566,Q9UHX1,Q6PGP7,Q969N2,Q13049,P20585,O95155,Q15056,O15078,P23786,O43505,Q9BX67,Q9NWS8,Q9UQE7,Q96RK4,Q9NQH7,Q9UIG0 19 |
| Abnormality of the palm 0.3012998104964604 0.6427452032785428 0.5203894445381012 1.0 0.8722290290892138 123 Q15555,Q9UHX1,Q8NCH0,P98175,Q9Y487,Q13555,Q7RTS9,P16615,Q8WVM7,Q15437,O95831,Q71SY5,P02545,Q01082,O75431,P09493,O96028,P11274 18 |
| Increased arm span 0.5785052262600039 0.6414206255974606 0.5212494358839574 1.0 0.8722290290892138 3 Q96L73 1 |
| Abnormal arm span 0.5785052262600039 0.6414206255974606 0.5212494358839574 1.0 0.8722290290892138 3 Q96L73 1 |
| Hepatomegaly 0.3039013719436219 0.6409945800447832 0.5215262043571038 1.0 0.8722290290892138 194 Q14108,O15118,Q9HC07,O43772,P14174,P02545,P10253,P39210,P54802,P16278,P11166,P49748,P28070,O43676,O75787,P15586,O75251,Q14739,P00813,Q9BUB7,P03886,O00754,P07602,P23786,P00846,P08236,O75431,P51798,Q9BX67,Q96CU9,Q9NWS8,P04066,P61916,Q9NWH9,P31751,Q96HY6,O75380 37 |
| Abnormal circulating pyruvate family amino acid concentration 0.3697908699724882 0.6407654470992895 0.5216750853726093 1.0 0.8722290290892138 25 P03886,P20674,P22695,Q15046,P00846,Q7LG56,P25705,Q9BUB7 8 |
| Limited wrist movement 0.5050249796334665 0.640415258118813 0.5219026657759884 1.0 0.8722290290892138 6 P02545,O75844 2 |
| Limitation of neck motion 0.558356888812758 0.6386712798448964 0.5230368000931995 1.0 0.8725886518391721 4 P02545 1 |
| Flared metaphysis 0.4309810058077861 0.6337191711950042 0.5262641112533184 1.0 0.8755432532475173 10 Q96L58,Q96HY6,O75530 3 |
| Fluctuations in consciousness 0.4275265756085934 0.6334189378300794 0.5264601012904611 1.0 0.8755432532475173 11 P03886,P04062,O75306,P00403 4 |
| Hyperconvex nail 0.4599465319810321 0.6310056142172902 0.5280368535673052 1.0 0.8766656872194597 8 P42892 1 |
| Severe failure to thrive 0.5750412269969722 0.6292051917613567 0.5292147303624344 1.0 0.8778295256417558 3 O75844 1 |
| Abnormality of dental color 0.5556588682768525 0.6289751448684398 0.5293653284469819 1.0 0.8778295256417558 4 P16278 1 |
| Olivopontocerebellar hypoplasia 0.5550791294979441 0.6268970105530771 0.5307267469960739 1.0 0.8786203039867316 4 Q9H9S5,Q9Y5P6 2 |
| Lipoatrophy 0.3704992508722593 0.6264475198095083 0.5310214490440979 1.0 0.8787951117193458 22 P09493,P04066,O75431,Q03252 4 |
| Impaired antigen specific response 0.4220104822045222 0.6249834463055942 0.531981922706382 1.0 0.8797580052727962 12 P00813 1 |
| Dermal atrophy 0.3571553866054547 0.623311287506932 0.5330799817263134 1.0 0.8806337273665761 29 P02545,Q96L58,O75844,Q15392 4 |
| Constitutional symptom 0.323374797556521 0.6221286482341766 0.5338572786543585 1.0 0.8816043972660995 255 Q99720,Q14108,Q4J6C6,P14174,P02545,P06753,O75298,O00192,P06280,Q9NR77,P11166,Q70HW3,P49748,P28070,Q14203,Q14739,P42892,Q96RR1,Q969N2,Q13049,P50336,O14936,P20700,O00754,P07602,Q15056,P23786,P00846,Q7LG56,P52732,Q03252,O43707,Q9H9S5,Q8N1F7,P48735,P11274,Q68CQ7,Q13423,O75569,Q9NZ08,Q9NWH9,Q15165,Q01082,Q14566,O43681,Q96HY6,O75844,P07196 48 |
| Mesomelia 0.4997061500368682 0.6196919140316232 0.5354606402266349 1.0 0.8832541282821759 6 Q9UBM7 1 |
| Gowers sign 0.3999174734171504 0.6194551557049867 0.5356165555195118 1.0 0.8832541282821759 15 P06753,Q13049,Q8TD16,P07196 4 |
| Absence of secondary sex characteristics 0.526093056469311 0.6176308821388276 0.5368186827631798 1.0 0.8843113525851586 5 P51809 1 |
| Prolonged bleeding time 0.4707637085781366 0.6174351436896124 0.5369477475447 1.0 0.8843113525851586 7 P35579 1 |
| Blue nevus 0.513595166163134 0.6169393730233372 0.5372747154569792 1.0 0.8843113525851586 2 P10644 1 |
| Abnormal blood sodium concentration 0.4271669519512572 0.615632771207862 0.5381369172602335 1.0 0.8843113525851586 10 P50336 1 |
| Pseudobulbar signs 0.4200518674434854 0.6152257031074025 0.5384056755876059 1.0 0.8843113525851586 12 P20700,Q14203,Q15233 3 |
| Excessive salivation 0.3497498220328073 0.6150681823247982 0.5385096935051885 1.0 0.8843113525851586 31 Q9NR77,P55795,Q15233,Q8N0X7,P15586,O75787,Q03252,Q01082 8 |
| Hypoplastic heart 0.5512153451740199 0.6130961197378205 0.539812785757809 1.0 0.8854606478702924 4 O60826,Q8N3U4 2 |
| Chronic fatigue 0.4412855707174464 0.6124807981279783 0.540219698538229 1.0 0.8858154337004764 9 P07602 1 |
| Atrial arrhythmia 0.4224075686609831 0.6085597901562987 0.5428162637185483 1.0 0.8881926681338359 11 P02545,Q96RR1 2 |
| Ureteropelvic junction obstruction 0.5231439952867958 0.6067168275650939 0.544038852767752 1.0 0.8895666955706345 5 Q9UBM7 1 |
| Pediatric onset 0.3206687835661315 0.6063152766798654 0.5443054161495 1.0 0.8896895071567803 249 P22830,P55263,O15118,Q96N67,P02545,P06753,O75027,P54802,P39210,O14773,P06280,Q9NR77,P16278,P35579,P11166,Q70HW3,P22466,P49748,Q8N0X7,O75787,O95831,Q6ZXV5,Q8NHS3,Q969N2,Q13813,P20700,P07602,P23786,Q03252,O75431,P51798,P41440,Q96CU9,Q969M3,O00584,O75306,Q14331,Q14566,Q9BSJ2,Q9NUQ7,Q9NUN5,P07196,Q9GZY8 43 |
| Joint laxity 0.3088939802780744 0.6048306978802789 0.545291494330072 1.0 0.8903268613392911 86 Q9HC07,Q8WVM7,O75419,Q9Y619,P16278,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,Q5H8A4,Q96L73,O00754,Q15056,Q15233,O75530,P55795,Q01082,Q96HY6,Q9UIG0 20 |
| Hyperglycemia 0.4676084772621041 0.6045316707347986 0.5454902196033258 1.0 0.8903268613392911 7 O75844 1 |
| Abnormal mitochondrial morphology 0.4247622536367549 0.6042863145709693 0.5456533034418551 1.0 0.8903268613392911 10 Q9GZY8 1 |
| Parietal bossing 0.5097500686624463 0.6018619839548224 0.5472660114013206 1.0 0.8923316333269953 2 O14802 1 |
| Abnormality of dental structure 0.307822163623617 0.5998588917770523 0.5486002809440675 1.0 0.8932221558810586 82 P16278,Q15555,P55011,O00192,Q15056,Q96L58,Q9Y487,Q96JJ3,Q9HC07,P02545,Q6P4Q7,O75431,P51798,Q9Y366,Q9UBM7,O75844,Q9UIG0 17 |
| Mildly elevated creatine kinase 0.3646374272718208 0.5993458973278836 0.5489422472287264 1.0 0.8932221558810586 24 Q7Z406,P02545,Q9H9S5,P39210,Q9BPX6,Q96RR1 6 |
| Abnormal circulating metabolite concentration 0.3428951099068522 0.5975054496277428 0.5501699696596702 1.0 0.8936175634423235 379 P22830,Q86VD7,P55263,Q4J6C6,Q9HC07,O43772,P14174,P02545,P06753,P10253,P39210,O00192,P00390,Q9UBM7,P05067,P06280,Q00796,P11166,Q70HW3,Q9Y6N5,P49748,Q9Y487,P28070,O43676,P53985,Q15392,Q7Z406,O95831,O14678,O75251,Q14739,Q6ZXV5,Q9BPX6,Q96RR1,Q969N2,P32929,Q13049,Q9BUB7,P50336,O14936,P03886,P22695,P07602,Q15056,P23786,P00846,O43505,Q7LG56,Q9BWD1,Q03252,O43707,P11177,Q9H9S5,O75431,P51798,P09493,Q8N1F7,P41440,P48735,Q96CU9,Q13423,P61916,Q9NWH9,O75306,Q14331,P25705,Q01082,P15291,P31751,Q8NFF5,Q8NAT1,O75380,O75844,Q9NUN5,P07196,Q9UIG0 76 |
| Myopathy 0.3045411117290333 0.592008184917284 0.5538451075050823 1.0 0.8970784993294241 110 P51114,P02545,P06753,Q13126,O60313,Q8NCH0,O43676,Q7Z406,Q96RR1,Q13049,P03886,O00754,O95155,Q15056,P23786,P00846,Q7LG56,Q03252,Q9H9S5,P09493,Q9NWS8,O75306,P15291,Q8NFF5,P07196,Q9UIG0 26 |
| Abnormal shape of the frontal region 0.3036684165172838 0.591415942448343 0.5542417610360368 1.0 0.8974081754475481 112 Q13045,P55263,O15344,Q4J6C6,Q8N201,Q9Y366,P16278,O60566,Q96L58,Q9Y487,Q15392,P15586,Q14739,Q6PGP7,Q5H8A4,P29372,P20674,O00754,O95155,Q15233,Q9Y448,O75431,P51798,O96028,Q9UQE7,P04066,O60826 27 |
| Abnormal labia morphology 0.3661209484164189 0.5903491481737682 0.5549565954669298 1.0 0.8979398673867767 19 Q9UQE7,P51809,O95714,O75419,P02545,Q8IY37,Q9Y619,Q15042 8 |
| Abnormal uvea morphology 0.3030169664734624 0.5887272678932296 0.5560442429263626 1.0 0.8987609032621937 113 P14174,Q9UBM7,Q9Y619,Q96EK5,Q9NR77,Q9UHX1,O95714,Q9NXR1,Q5H8A4,O14936,O95155,Q15056,O15078,Q8WXW3,O43505,P52732,Q9H9S5,O15484,P04439,O15287,O96028,P31749,Q86YV9,Q8NAT1,Q01082,O60826,Q9UIG0 27 |
| Morphological abnormality of the vestibule of the inner ear 0.5053556715188043 0.5847781618522836 0.5586968901179394 1.0 0.9015024564267016 2 Q06124 1 |
| Aplasia hypoplasia of the tongue 0.4626533310072274 0.5844072436013573 0.5589463544681266 1.0 0.9015024564267016 7 O15078,Q03252 2 |
| Secundum atrial septal defect 0.5620879120879134 0.5841510601452954 0.5591186844942642 1.0 0.9015024564267016 3 P34897,Q15650 2 |
| Mixed hearing impairment 0.4343534537852202 0.5815786878267557 0.5608505017411551 1.0 0.9015024564267016 9 Q96L58,O00754 2 |
| Unusual infection 0.3114985377899513 0.5809804189423832 0.5612536506401824 1.0 0.9015024564267016 225 P26038,Q7RTS9,P14174,Q71SY5,P06753,P10253,P54802,Q9UBM7,Q13432,P16278,P11166,Q9Y487,P28070,P02786,O75787,P15586,Q14739,Q9NXR1,P00813,Q6PGP7,Q9BUB7,P20700,O00754,P07602,Q15056,Q03252,Q9Y448,P08236,P51798,O96028,P78536,P11274,P04066,Q13423,Q9NZ08,Q86YV9,Q01082,O60826,Q9NUN5,Q9UIG0 40 |
| Infantile spasms 0.3416642771339556 0.5803572285178983 0.5616737421737366 1.0 0.9015024564267016 32 P03886,Q9UBX3,P00846,Q96N67,Q01082,Q13813,O14936 7 |
| Abnormal proportion of cd4 positive t cells 0.4196394364038859 0.5802687515770132 0.561733396640405 1.0 0.9015024564267016 10 Q9Y448,O75787 2 |
| Increased urinary non proteinogenic amino acid level 0.4615991599598651 0.5801487467541936 0.5618143132799069 1.0 0.9015024564267016 7 Q9NUN5 1 |
| Abnormal temper tantrums 0.447484809974313 0.5780392125950142 0.5632376454921766 1.0 0.9034196552637372 8 Q06787,Q93009,P04062,P35222,Q14738 5 |
| Abnormality of corneal stroma 0.3640713558747802 0.5771901512661437 0.5638110094458295 1.0 0.9034585382395758 18 P16278,P10619,O43505 3 |
| Misalignment of incisors 0.4882572732167085 0.5756944094610702 0.564821754774905 1.0 0.9045837513990552 6 Q8WVM7,Q96N67 2 |
| Underdeveloped supraorbital ridges 0.4077046443722887 0.5737264141118003 0.5661529509875662 1.0 0.9054423843928942 13 P52732,Q9Y448,P98175 3 |
| Abnormal nervous system electrophysiology 0.3027518889701814 0.5734495813709135 0.5663403275977825 1.0 0.9054423843928942 202 Q99720,Q14108,Q96N67,Q71SY5,P02545,P39210,O14773,O75503,Q00796,Q9NR77,P11166,Q9UBX3,Q7Z406,O95831,Q8NHS3,Q969N2,Q13813,O14936,P03886,P20700,P55011,O95155,P07602,P50897,Q96F07,Q9H9S5,O96028,Q96N66,Q01082,O43681,Q9NWW5,P07196,Q9GZY8 33 |
| Abnormal chorioretinal morphology 0.3332143600788383 0.5717997566177823 0.5674576422086277 1.0 0.9058796644873626 34 O15078,O43505,P52732,Q10713,Q8NAT1,Q01082,Q9H9S5,Q9NXR1,P04439,O60826,Q9Y619,P31749,O14936 13 |
| Abnormal choroid morphology 0.3332143600788383 0.5717997566177823 0.5674576422086277 1.0 0.9058796644873626 34 O15078,O43505,P52732,Q10713,Q8NAT1,Q01082,Q9H9S5,Q9NXR1,P04439,O60826,Q9Y619,P31749,O14936 13 |
| Thick eyebrow 0.3146982715921185 0.571603635298908 0.5675905320697505 1.0 0.9058796644873626 48 O00754,Q9UQE7,Q9UHX1,P04066,P98175,P15586,Q96N67,O95831,Q01082,P08236,Q9BSJ2,Q96EK5 12 |
| Bilateral coxa valga 0.5583954416514744 0.5714993554717952 0.5676611971136647 1.0 0.9058796644873626 3 O00754 1 |
| Angina pectoris 0.5388481056789192 0.5695289751254272 0.5689972129454395 1.0 0.9061446362431314 4 O75844,P06280 2 |
| Bird like facies 0.4857521639287053 0.5661861995138678 0.5712672103666658 1.0 0.9088253086524808 6 P02545,O75844 2 |
| Abnormal enzyme coenzyme activity 0.3033845725088777 0.5654984561686733 0.5717347740626435 1.0 0.9090873158337908 205 P55263,O15118,Q9HC07,O43772,P10253,P39210,P16278,P35579,P49748,P28070,Q96JJ3,O75787,Q14739,O14678,P00813,Q96RR1,Q969N2,P10619,P50336,P03886,P22695,Q9Y3D3,O00754,P07602,P23786,P00846,O43505,Q7LG56,Q9H9S5,O75431,P51798,P41440,P11274,P61916,P46783,Q15437,Q01082,Q9NUN5,Q14566 39 |
| Abnormality of the parathyroid gland 0.3583441526587047 0.5648237703517475 0.572193637304933 1.0 0.9093651958125936 25 P03886,P48735,O00192,Q969N2,P00403 5 |
| Hoarse voice 0.3456680322444032 0.5625328463375967 0.5737530310430587 1.0 0.9102556748077408 30 Q13045,Q15056,Q8N0X7,Q7Z406,Q9UIG0,Q9Y2U8,O95140,Q01082,P06753,O75530,Q96HY6,Q96L73 12 |
| Anal stenosis 0.5366657607120164 0.5619425329522293 0.5741551735759143 1.0 0.9102556748077408 4 O60934,O75419 2 |
| Abnormality of the female genitalia 0.2768527091853739 0.5615368538903276 0.5744316139797743 1.0 0.9102556748077408 144 Q92878,Q9UIG0,O75419,P02545,O00192,Q9UBM7,Q9Y619,O60566,O95714,Q15392,Q96RR1,Q13049,P20585,O95155,Q15056,O15078,Q03252,O15287,O96028,P48735,P31749,Q15051,Q9UQE7,P51809,Q15437,P31751,Q16740,Q96RK4,O75844,P49770,Q01844 31 |
| Nonketotic hypoglycemia 0.4844921399885555 0.5614207218753073 0.5745107609919615 1.0 0.9102556748077408 6 P23786,P31751 2 |
| Cerebral palsy 0.4046001724576588 0.5581302207832664 0.5767554655425182 1.0 0.9125579327123194 13 P48735,P98175 2 |
| Bruising susceptibility 0.3312698062653691 0.5568064586754667 0.5776596705976753 1.0 0.912809742411956 34 P35579,Q14108,Q8NCH0,Q96L58,Q13126,P51798 6 |
| Abnormal b cell morphology 0.4043104017830503 0.5566791248026364 0.577746682066508 1.0 0.912809742411956 13 P00813,Q9Y448 2 |
| Spinal cord compression 0.5350827485200204 0.5564595139262438 0.5778967639715891 1.0 0.912809742411956 4 Q96L58 1 |
| Malignant neoplasm of the central nervous system 0.3548750602970288 0.5553795820112002 0.5786350553869168 1.0 0.913414924381708 26 P20585,Q15555,O95155,P48735,P35222,Q96L73 6 |
| Ulnar deviation of the hand or of fingers of the hand 0.4040396624474963 0.5553240627591666 0.5786730228921344 1.0 0.913414924381708 13 Q96L58,Q9UBM7,P11274 3 |
| Abnormality of ocular smooth pursuit 0.3596430021393386 0.5538354287898276 0.5796914792807568 1.0 0.9145880585668628 21 O00754,P41440,O14773 3 |
| Limitation of joint mobility 0.3019180013359259 0.5536624760802842 0.5798098602405806 1.0 0.9145880585668628 109 Q13045,Q7RTS9,Q8TD16,Q8WVM7,P02545,P06753,P54802,Q9HC21,P16278,Q96L58,P15586,Q9H6K4,O00754,O95155,Q15056,P23786,P08236,O75431,O75530,P48735,Q9UQE7,O75844,Q9UIG0 23 |
| Skin ulcer 0.3302759833143407 0.5491686550490256 0.5828897131767032 1.0 0.9168690873857388 34 Q8IZA0,P52732,P02545,P39210,P48735 5 |
| Tube feeding 0.3013139980171049 0.5490876472374462 0.582945302067376 1.0 0.9168690873857388 75 Q05639,Q99720,Q01105,P35637,Q8N3U4,Q71SY5,P06753,Q9UHX1,Q969N2,P55011,P07602,Q15233,Q9UBB6,Q9Y448,P17480,Q96N66,Q14139,Q6PJT7,Q9NUQ7,Q9GZY8 20 |
| Hirsutism 0.3044268015460258 0.5483306065646566 0.5834649153037348 1.0 0.9171027739507704 65 P16278,Q9UQE7,Q15555,O95155,O15078,Q96JJ3,P15586,Q03252,P02545,P08236,P54802,Q13049 12 |
| Iris hypopigmentation 0.4808561196419573 0.5477343969726131 0.5838742900944844 1.0 0.9171027739507704 6 O95155,Q86YV9 2 |
| Reticular hyperpigmentation 0.4949189783026544 0.5448725470662776 0.5858411786924607 1.0 0.9187998506189216 2 Q9H488 1 |
| Cavum septum pellucidum 0.401711649047813 0.543701758636567 0.5866467220493059 1.0 0.9191326086861512 13 O96028 1 |
| Decreased circulating iga level 0.4085664696711129 0.5424306969349727 0.5875218376141373 1.0 0.9195375415318452 11 P00813,Q969N2 2 |
| Abnormality of the breast 0.2984616059906868 0.5413904009999982 0.5882385220300108 1.0 0.9195375415318452 115 Q92878,Q8IWS0,O75419,P02545,P28340,Q9UBM7,Q9Y619,Q96EK5,Q14683,O75330,P57740,O14678,Q9BZK7,Q969N2,Q5H8A4,Q96KP1,Q12768,Q15067,Q15233,P23786,Q9Y448,O75530,O96028,P19022,P48735,P35222,P31749,Q06787,P11802,Q9UQE7,Q15555,P51809,Q96A33,Q15437,Q01082,P31751,Q8IY37,P10586,O60826,Q14738 40 |
| Congenital malformation of the left heart 0.5051408577470897 0.5413152387921688 0.5882903186946795 1.0 0.9195375415318452 5 O60826,Q8N3U4 2 |
| Contractures involving the joints of the feet 0.3575684732345566 0.5408928859807229 0.5885814146190187 1.0 0.9196831989692602 21 O60313,Q8N2K0,P50402,Q8WXH0,Q8IWS0,Q8IZA0,Q8TD16,P02545,Q9H9S5,Q14738 10 |
| Dyslexia 0.4249471357780751 0.5402728170180653 0.5890089018540245 1.0 0.920016762124668 9 P11166,Q9H6K4,Q01082 3 |
| Long philtrum 0.2816921294447376 0.5400089635067443 0.5891908508893935 1.0 0.920016762124668 138 Q8N201,P06753,Q8N3R9,O00192,Q9UBM7,Q16625,P16278,A2RRP1,P11166,O60566,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,O75718,Q13868,Q9BUB7,Q6PGP7,Q969N2,O14936,P20700,P55011,O95155,Q15056,P52732,O75431,O75530,Q9UQE7,Q15555,Q13555,Q9UIG0 32 |
| Eversion of lateral third of lower eyelids 0.4932710793737887 0.5386620519829745 0.5901200626793808 1.0 0.9208488687948564 2 P60953 1 |
| Acne 0.3761089346885285 0.5369135873220247 0.5913273050831593 1.0 0.9211212017745286 16 Q92542,Q9NZ08 2 |
| Abnormality of the mitochondrion 0.3024424306063024 0.5359076494325848 0.5920223775091573 1.0 0.9211212017745286 102 Q4J6C6,O43772,Q7KZN9,Q70HW3,Q9UBX3,P49748,O43676,Q7Z406,O75251,Q9BUB7,Q96RR1,P00403,P03886,P20674,Q15046,P23786,P00846,Q7LG56,P11177,Q9Y2R0,Q96CU9,O75306,O75380,Q9GZY8 24 |
| Unconjugated hyperbilirubinemia 0.5477215773311258 0.5354427128181511 0.5923437612213531 1.0 0.9211212017745286 3 O14936 1 |
| Juvenile aseptic necrosis 0.5034100750886715 0.5351468532749819 0.5925483134250609 1.0 0.9211212017745286 5 Q9NUQ7,Q8IWS0 2 |
| Abnormal cortical gyration 0.2761388707887102 0.5351464429262613 0.5925485971556097 1.0 0.9211212017745286 146 Q86XL3,Q01105,P07942,Q8TD16,Q71SY5,Q5KU26,Q9HC21,Q96EK5,Q16625,Q9Y487,Q15392,Q6ZXV5,O14936,P20700,P55011,P23786,Q8WXW3,O43505,P52732,Q03252,P11177,Q9H9S5,Q9Y3C6,Q9NWS8,Q96N66,P35606,Q8NAT1,Q9BSJ2,Q9NUQ7 29 |
| Allergy 0.4370775319191052 0.5347254009779995 0.5928397542282524 1.0 0.9211212017745286 8 P00813 1 |
| Gonadoblastoma 0.5470791161345923 0.5332979315591524 0.5938273592825691 1.0 0.9211212017745286 3 P51809 1 |
| Delusions 0.3567425423740489 0.5327774889994962 0.5941876184078114 1.0 0.9211212017745286 19 O00754,P07602,P49770,O43681,Q8WYQ5,P50336 6 |
| Swan neck like deformities of the fingers 0.4916231804449229 0.5324772213516386 0.5943955141950732 1.0 0.9211212017745286 2 Q9UBC1 1 |
| Ambiguous genitalia 0.3491784607985109 0.5320933827404825 0.5946613202702902 1.0 0.9211212017745286 27 O60566,Q8TAA9,Q14839,O15078,P51809,Q15392,Q8IY37,Q9UBM7,Q9H0U9 9 |
| Poor motor coordination 0.3917686089182218 0.5317636453749987 0.5948897048925708 1.0 0.9211212017745286 14 O75503 1 |
| Abnormal aortic valve morphology 0.3156384687927629 0.5315064537341949 0.5950678702731809 1.0 0.9211212017745286 45 Q9UQE7,Q9UHX1,Q15056,Q9BUB7,Q96L58,P02545,Q01082,O00192,Q6PGP7,O75844,P06280,Q9UIG0 12 |
| Gastrointestinal obstruction 0.3751086200728651 0.5313643515587573 0.5951663197211006 1.0 0.9211212017745286 16 P31040,P50336,P42892,P35222,Q01844 5 |
| Phenotypic variability 0.2989678453819656 0.5306338707020544 0.5956725196099244 1.0 0.9214681087307984 112 Q8TD16,P02545,P06753,Q9NR77,Q5THJ4,O60313,P11166,Q70HW3,Q8WVQ1,Q13868,Q9H061,Q13813,P00403,P03886,P07602,P00846,P52732,O43707,Q9Y4W6,Q6P4A7,Q9H9S5,O95470,Q9NWS8,P49792,Q8WWY3,Q9NQT5,Q9NWH9,P07196,Q9UEY8 29 |
| Abnormal talus morphology 0.3561543895167234 0.5301620664082456 0.5959995692310698 1.0 0.9216672207044196 20 O75844,Q9UHX1,P98175 3 |
| Abnormality of complement system 0.5272835361186823 0.5296991860021112 0.5963205124197861 1.0 0.9218567602178132 4 Q03252 1 |
| Abnormality of thyroid physiology 0.3022088167393643 0.5276533008029716 0.5977399912632206 1.0 0.9228887104457144 86 Q13045,Q8N3U4,O76024,P42224,O00192,Q14683,O60313,O60566,Q13868,P55265,O14654,P00813,Q96RR1,Q6PGP7,Q96L73,P03886,P00403,O95155,Q15046,Q15056,Q7LG56,O95470,O00443,P35222,P31749,P04066,P27635,Q13423,Q9UIG0 29 |
| Short palpebral fissure 0.3485067960983272 0.5275921476420176 0.5977824442525501 1.0 0.9228887104457144 27 P55795,Q15555,Q9UHX1,P98175,P02545,Q13868,O15287,O75844 8 |
| Abnormality of the knee 0.3018933484498816 0.526893424459554 0.5982676004032759 1.0 0.9230244153632212 101 Q86XL3,Q7RTS9,Q8TD16,P06753,O00192,Q9NR77,P16278,Q8WVQ1,Q8N0X7,Q96L58,O95831,Q6ZXV5,O00754,Q15056,P23786,P08236,O75431,P51798,Q9NX62,Q01082,Q96HY6,Q9NUQ7,Q9UIG0 23 |
| Multiple cafe au lait spots 0.3819472538668896 0.522297474423112 0.601463227380219 1.0 0.9261098799323648 15 O15287,O60566,Q15437 3 |
| Proximal tubulopathy 0.3369324944651627 0.5218207152124535 0.601795165098308 1.0 0.9261188187359424 31 P03886,O43676,Q7LG56,O75306,O75251,O75380,Q96CU9 7 |
| Gait imbalance 0.3534075481317438 0.5216662376797359 0.601902735892935 1.0 0.9261188187359424 23 Q9NR77,Q7LG56,Q15056,Q9UIG0 4 |
| Intestinal pseudo obstruction 0.3897529353891037 0.5214304923200198 0.6020669144396991 1.0 0.9261188187359424 14 P03886,Q96RR1 2 |
| Intractable diarrhea 0.5243051942936456 0.5195951671281033 0.6033457672373026 1.0 0.9274719749757676 4 Q6PGP7 1 |
| Recurrent viral infections 0.3728164422305071 0.5186932497549638 0.6039746697015111 1.0 0.9280967516316158 16 Q13432,P00813,Q9Y448,P42224 4 |
| Generalized abnormality of skin 0.3139809187441338 0.5179612124037177 0.6044853320526062 1.0 0.9280967516316158 245 P22830,Q14108,P98175,O15118,Q8IZA0,O43772,Q8WVM7,P02545,Q13126,P39210,O00192,Q9UBM7,P06280,P16278,P11166,P35579,Q8NCH0,P49748,Q96L58,Q9Y487,Q96JJ3,O75787,Q14739,P00813,Q969N2,P10619,P50336,O14936,P03886,O95155,Q15056,P00846,Q03252,O75431,P51798,P78536,Q9UQE7,P04066,P61916,O75306,Q15437,Q14331,Q01082,O75844 44 |
| Macular atrophy 0.4459283290054713 0.5178669830098961 0.6045510796619111 1.0 0.9280967516316158 7 Q8WWY3,P04439 2 |
| Uplifted earlobe 0.4875034331227587 0.5171298479168178 0.6050655189273406 1.0 0.9282731813982674 2 Q9BZK7 1 |
| Exercise induced myalgia 0.3995604801260474 0.5151391428509627 0.6064557917427935 1.0 0.9292256541918036 12 P23786,P02545,Q13049,P49748 4 |
| Abnormality of toe 0.2959097244661355 0.5145140453691183 0.6068926431171997 1.0 0.9293095846833715 194 Q13045,Q99720,O75175,Q8WVM7,O75419,Q71SY5,Q8N201,P02545,Q8N3R9,P39210,Q9Y366,Q9UBM7,O00192,Q9NR77,A2RRP1,Q9UHX1,Q8WVQ1,Q8N0X7,Q96L58,Q14739,P00813,Q5H8A4,O14936,P55011,O95155,Q15056,Q15233,O15078,P23786,Q8WXW3,O75431,O75530,O96028,O15287,P11274,P31749,Q9UQE7,Q9NX62,Q93009,Q5TAQ9,O00764,O60826,O75844,P07196,Q9UIG0 45 |
| Cephalohematoma 0.4864048338368482 0.5130654330870927 0.6079055503923936 1.0 0.9302364934938476 2 P17301 1 |
| Myalgia 0.3081631005680713 0.5127204795969388 0.608146861896774 1.0 0.9302364934938476 48 P20700,P49748,P23786,Q9NZ08,Q14739,P02545,Q9H9S5,O00192,Q96RR1,Q13049,P06280 11 |
| Weakness due to upper motor neuron dysfunction 0.2811794924250775 0.5110914579422832 0.6092870170221949 1.0 0.9310610878336532 160 P07942,Q7RTS9,O75298,Q7KZN9,P11166,O60313,Q9UBX3,Q8N0X7,Q96L58,O75787,O95831,O75251,Q9H6K4,Q6DKK2,P00403,P03886,P50336,P20700,O00754,O95155,P07602,O15078,P00846,Q7LG56,Q9Y4W6,Q9H9S5,Q96CU9,P31749,Q15051,Q13423,Q9NZ08,O75306,O43681 33 |
| Gonadal neoplasm 0.3321617624135111 0.5103683976064952 0.609793392665714 1.0 0.9311555309239226 32 P20585,Q13423,P51809,Q92878,P35222,Q01844,P02545,P48735,P31749,Q96L73 10 |
| Colpocephaly 0.4175858597809961 0.5085006519343191 0.6111022820154133 1.0 0.9311555309239226 9 Q8IY37,Q8N3U4,P53701 3 |
| Laryngeal stenosis 0.539562483205883 0.5084303676034534 0.6111515605678397 1.0 0.9311555309239226 3 Q96HY6 1 |
| Abnormality of the distal phalanx of the thumb 0.4699594177009272 0.5073298539606086 0.611923394801928 1.0 0.9318340571648356 6 Q9Y448 1 |
| Irritability 0.2996599159819478 0.5072226412937412 0.6119986103867179 1.0 0.9318340571648356 82 P11166,P07602,P50897,P00846,Q9NZ08,O43772,O95831,P25705,O43707,Q01082,Q8N1F7 11 |
| Restrictive behavior 0.4949299379014003 0.5052531398655472 0.6133810510792841 1.0 0.9330218475827932 5 Q01082 1 |
| Hepatocellular carcinoma 0.3511439115288908 0.5037720495540746 0.6144215711057157 1.0 0.9336877177659454 22 P50336,Q13043,P11717,P16930,P54277,Q9NWH9,P35222 7 |
| Brain imaging abnormality 0.3138764254813556 0.5029349378314578 0.6150100163015328 1.0 0.9338755887560544 44 P03886,P11166,Q9Y6N5,P07602,Q15046,O75306,Q93009,Q9P0J1,P31749,P00403 10 |
| Facial hemangioma 0.494226738046001 0.5027995778069178 0.6151051905098872 1.0 0.9338755887560544 5 O60826 1 |
| Emg abnormality 0.2993324003924591 0.5010245158279588 0.6163538693167245 1.0 0.9338755887560544 83 Q9NR77,P07602,P51114,Q7Z406,Q7LG56,Q14331,P02545,P06753,Q9H9S5,P39210,O43681,P09493,O14773,Q96RR1,Q13049,P07196 16 |
| Hypersplenism 0.4155881348714555 0.4999683569148907 0.6170973584944275 1.0 0.9340884120272328 9 P07602 1 |
| Cerebral hypoplasia 0.3691602226811827 0.498615378747768 0.618050368971004 1.0 0.9346210821321338 16 Q9UBM7,Q86XL3,O60566,P35606 4 |
| Emg chronic denervation signs 0.377377757534147 0.498147984338686 0.6183797416756835 1.0 0.934779154193266 15 P07602,O43681 2 |
| Abnormal lactate dehydrogenase level 0.3509478678102218 0.4977730424071874 0.6186440185899662 1.0 0.934779154193266 19 P23786,O43505,Q9H9S5,P10253,P41440 5 |
| Weight loss 0.298238035399096 0.4970251518411129 0.6191713147499711 1.0 0.9350955799945128 80 Q99720,P07602,Q13423,Q9NZ08,Q14203,P02545,P06753,P42892,O75844 9 |
| Lower extremity joint dislocation 0.2992464110627274 0.4956776385447564 0.620121866311065 1.0 0.9360193435953672 85 Q8TD16,P02545,P06753,O00192,Q9UBM7,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,Q6ZXV5,P55011,Q15056,Q9H9S5,O15287,O96028,P31749,Q9UQE7,Q9NX62,Q9NQT5,O75844,Q9UIG0 21 |
| Aplasia hypoplasia of the sternum 0.5164135507431182 0.4931466165770279 0.6219089944338307 1.0 0.9360193435953672 4 O60566,P98175 2 |
| Branchial anomaly 0.4138115188641769 0.4924141243486762 0.6224266163658152 1.0 0.9360193435953672 9 Q9UHX1 1 |
| Epiphyseal stippling 0.3947151516954586 0.4920790846998732 0.6226634372668065 1.0 0.9360193435953672 12 O00116,Q9UBM7,Q14739 3 |
| Abnormal cranial nerve physiology 0.2968587032941825 0.4920527801490122 0.6226820321448197 1.0 0.9360193435953672 77 Q9NR77,Q9UHX1,P07602,O95155,Q9NZ08,Q7LG56,Q14203,P02545,P06753,Q9H9S5,P51798,Q96RR1,P48735,Q13049,P07196 15 |
| Abnormality of the spinocerebellar tracts 0.5341058535903934 0.4906479472522619 0.6236754681386845 1.0 0.936039562022765 3 O00754 1 |
| Diffuse mesangial sclerosis 0.3493758740579185 0.4887522274071827 0.625017123341445 1.0 0.936039562022765 18 P00813,O43707 2 |
| Pigmentary retinopathy 0.3013497900892828 0.4874883860582029 0.6259122712195127 1.0 0.936039562022765 58 P03886,Q15555,O15078,P00846,Q7LG56,O75306,O75251,Q96CU9,Q9H9S5,Q8NHS3,Q7KZN9,Q13049 12 |
| Absent toe 0.3444844399104809 0.4870951132014594 0.6261909293469392 1.0 0.936039562022765 26 P55011,Q9UHX1,P02545,Q8N3R9,O96028,Q5H8A4 6 |
| Posterior fossa cyst 0.4892832380429465 0.4856649489049047 0.627204738976362 1.0 0.936039562022765 5 Q9H9S5,Q9UHX1 2 |
| Polymicrogyria 0.2978103163933458 0.4839071730675197 0.6284517494522319 1.0 0.936039562022765 83 Q05639,Q01105,Q8TD16,Q71SY5,Q96EK5,Q16625,Q9Y487,Q15392,Q10713,Q6ZXV5,Q9NXR1,P55011,P23786,Q8WXW3,O43505,Q9UBB6,Q9H9S5,Q96N66,Q14139,Q6PJT7,Q8NAT1,P42356,Q9NUQ7 23 |
| Bilateral polymicrogyria 0.4243475360022659 0.4830473809542323 0.6290620942967711 1.0 0.936039562022765 8 Q05639,Q01105,Q96JM3,Q00610,P42356 5 |
| Broad phalanx of the toes 0.4624164867288763 0.479936927869332 0.6312722420994956 1.0 0.9366835441017262 6 Q71SY5 1 |
| Germ cell neoplasia 0.3887229405543158 0.4799008610910116 0.6312978889236209 1.0 0.9366835441017262 13 P20585,P51809,P31749,P35222,Q96L73 5 |
| Arterial thrombosis 0.4233334359163243 0.4789977307826549 0.6319402429897518 1.0 0.9369948395232924 8 Q9NZ08 1 |
| Hepatic encephalopathy 0.5115532822910323 0.4771015517309695 0.6332898097706936 1.0 0.9381248791853404 4 A2RRP1 1 |
| Rimmed vacuoles 0.3806159568516514 0.4751736184272458 0.6346632292902972 1.0 0.9393647908265094 14 P22626,Q8WXH0,P50402,P02545,P43243,Q13642 6 |
| Complete atrioventricular canal defect 0.529032035094399 0.4743261848837116 0.6352673217777214 1.0 0.9397618376152284 3 Q9UHX1 1 |
| Carcinoma 0.4859220819517434 0.474131688710425 0.6354060025364854 1.0 0.9397618376152284 5 P28340 1 |
| Otitis media 0.2976336775554539 0.4728337311268049 0.6363318068363502 1.0 0.9403483473290528 64 Q13432,Q13045,O00754,Q15056,Q14739,Q01082,P51798,O00192,Q9UBM7,P00813,O96028,Q9UIG0 12 |
| Psychosis 0.3202005404407674 0.4727840311666023 0.6363672680193131 1.0 0.9403483473290528 34 P03886,O15118,P61916,Q96RR1,Q6DKK2,P50336 6 |
| Abnormal arachnoid mater morphology 0.4089613125097961 0.4719576592289057 0.6369570108003493 1.0 0.9405590178548532 9 Q9UHX1 1 |
| Abnormal phalangeal joint morphology of the hand 0.3069172239352116 0.4705966568310403 0.6379287954946153 1.0 0.941658105824854 46 O95155,Q8WVQ1,P27635,O75844,P57740,Q9H4L7,O76024,O75419,P02545,Q71SY5,O75530,Q9BUB7,Q9Y619,P11274,Q15042,Q96L73 16 |
| Myositis 0.392930128229398 0.4699583427222495 0.6383847799256444 1.0 0.941658105824854 11 P28070 1 |
| Macroorchidism 0.4846670566510426 0.469850160656438 0.6384620741508407 1.0 0.941658105824854 5 Q06787,P38159,P31749 3 |
| Chondrosarcoma 0.5090704575753942 0.4689797038177566 0.6390841435179477 1.0 0.9421033681812392 4 P48735 1 |
| Abnormality of female external genitalia 0.3184346717928118 0.4686408489580079 0.63932637383075 1.0 0.9421033681812392 36 Q9UQE7,O95155,P51809,Q15392,O75419,P02545,Q9UBM7,Q9Y619 8 |
| Synostosis of joints 0.3167395719954485 0.4678180800671073 0.6399146900303929 1.0 0.9422318011949417 38 Q9UQE7,Q9UHX1,Q15056,Q8WVQ1,Q96L58,Q9H9S5,O96028,Q9UIG0 8 |
| Recurrent fever 0.3547505645427173 0.466936518976444 0.6405452965933316 1.0 0.942563012434836 17 Q9NR77,P28070 2 |
| Abnormality of the fetal cardiovascular system 0.458542117756024 0.4660626719325782 0.6411706413069636 1.0 0.9431845426253432 6 O60826 1 |
| Abnormal gastrointestinal motility 0.3191411842629664 0.4648732506936181 0.642022227315834 1.0 0.9441383830179368 34 P03886,P11802,P16930,Q96RR1,P35637,Q7LG56,Q01844,Q9UBM7,P06280,P50336,P00403 11 |
| Increased csf lactate 0.2984032779292207 0.4639918447807592 0.6426535884928828 1.0 0.9447678664113972 60 P03886,O43676,P00846,O95831,P39210,O75380,Q7KZN9,Q96CU9 8 |
| Central hypoventilation 0.4193367773962161 0.4631401407760301 0.6432639192060403 1.0 0.9453660444498638 8 P06753,Q14203 2 |
| Microglossia 0.5070594501250272 0.4624391443669849 0.6437664335923694 1.0 0.945805443219646 4 Q03252 1 |
| Obsessive compulsive behavior 0.3116918743602941 0.46182258401751 0.6442085540508127 1.0 0.9458679923576272 42 Q9UQE7,Q15056,Q93009,Q01082,O75503,P11274,Q6DKK2 7 |
| Abnormal glial cell morphology 0.2974085532010314 0.4612445213980319 0.6446231830851314 1.0 0.9458679923576272 62 P20700,P20585,O00754,P54277,P35637,P00846,O75306,P49792,O95831,Q10713,Q92734,P04062,P48735,Q7KZN9,P49770,Q96L73 16 |
| Intracranial hemorrhage 0.3311496285221024 0.4607235221526953 0.6449969768062873 1.0 0.9461177245008892 30 P23786,O75844,Q9NUN5,P05067 4 |
| Increased nuchal translucency 0.3535117280425639 0.4599903921039502 0.645523116877154 1.0 0.9464964152290354 17 Q9UQE7,Q15056,Q9UBM7,Q9UIG0 4 |
| Chronic infection 0.392845814638359 0.4586398519154652 0.6464928135631547 1.0 0.9471205243705412 10 Q6UN15,O75533,Q14980,P40763,P51798,Q9BZK7 6 |
| Osteosarcoma 0.3418196941705591 0.4583518447861744 0.6466996823386544 1.0 0.9471205243705412 25 Q13126 1 |
| Abnormality of the septum pellucidum 0.3035856029802207 0.4564488486738047 0.6480672456273906 1.0 0.948226854669548 47 Q96N66,Q14139,P55011,Q6PJT7,Q15392,Q8N3U4,O43505,Q71SY5,Q9UBB6,Q8NAT1,Q9H9S5,O96028,Q9NUQ7,Q96L73 14 |
| Hyperthyroidism 0.3835978997035126 0.4552599154224205 0.6489222604015841 1.0 0.9487333040310312 13 O00192,Q96RR1,Q7LG56 3 |
| Cerebellar dysplasia 0.4803166130968031 0.4551158990236852 0.6490258604507528 1.0 0.9487333040310312 5 Q9H9S5 1 |
| Abnormal systemic arterial morphology 0.2747777881816539 0.4547681987508402 0.6492760110999507 1.0 0.9487464129356744 154 P55263,O15118,P02545,P06753,P10253,Q8N3R9,O00192,Q9UBM7,P05067,P16278,Q9UHX1,Q96L58,O14678,Q6ZXV5,P10619,P03886,P55011,O95155,P07602,P00846,Q9Y448,P11274,P61916,Q01082,O75844 25 |
| Coarse hair 0.3435509868965761 0.4545359059888478 0.6494431546262924 1.0 0.9487464129356744 18 Q9Y487 1 |
| Abnormally lax or hyperextensible skin 0.2977210891389582 0.4541739391639559 0.6497036387747444 1.0 0.9488286641691503 50 Q9Y3D3,Q15555,Q8NCH0,Q9UHX1,Q15056,Q96L58,Q9Y487,O75787,O75530,Q9UIG0 10 |
| Abnormal morphology of the olfactory bulb 0.5220854357538327 0.4523273666140015 0.6510331637305673 1.0 0.9498747603943316 3 Q8N3U4 1 |
| Single naris 0.5220854357538327 0.4523273666140015 0.6510331637305673 1.0 0.9498747603943316 3 Q8N3U4 1 |
| Chronic mucocutaneous candidiasis 0.4163833046872587 0.451529418036468 0.6516080275325029 1.0 0.9502608066310648 8 P02786,Q9Y448 2 |
| Respiratory distress 0.297324411510837 0.448848250122708 0.6535411294109617 1.0 0.9502608066310648 58 P03886,Q9UHX1,P07602,P23786,P00846,O95831,P10253,Q9Y366 8 |
| Duplication involving bones of the feet 0.3384959567989873 0.4485425574821162 0.6537616795410088 1.0 0.9502608066310648 26 O95155,O15078,Q14739,O00192,Q9UBM7,O96028 6 |
| Addictive behavior 0.4533409472905942 0.4476564828212355 0.6544011326191785 1.0 0.9502608066310648 6 Q6UN15,Q14980,Q9BZK7,P40763 4 |
| Diffuse alveolar hemorrhage 0.4533409472905942 0.4476564828212355 0.6544011326191785 1.0 0.9502608066310648 6 Q6UN15,Q14980,Q9BZK7,P40763 4 |
| Decreased facial expression 0.3168041781428236 0.447510133210817 0.6545067730947238 1.0 0.9502608066310648 34 O75787,Q14203,Q7LG56,P06753,Q9Y448,Q9H9S5,Q96RR1,Q13049 8 |
| Impaired visuospatial constructive cognition 0.4028956533892903 0.4467344999337528 0.6550667688879976 1.0 0.9506855949476968 9 P03886,P11166,P00403 3 |
| Abnormal csf metabolite level 0.2923581145557659 0.4442609040758286 0.6568539637003474 1.0 0.951648850259164 68 P03886,P11166,O43676,P00846,O75306,O95831,O75251,Q01082,P39210,O75380,Q9HC21,Q7KZN9,Q96CU9,Q9NWS8,P00403 15 |
| Abnormal pulmonary interstitial morphology 0.3197208508291553 0.4438904223981667 0.6571218093916416 1.0 0.951648850259164 33 Q8IZA0,P14174 2 |
| Dysmetric saccades 0.4265430103050354 0.4438320546754435 0.6571640112936641 1.0 0.951648850259164 7 Q9Y4W6,O14773 2 |
| Esophageal atresia 0.4140302613480094 0.442346696739719 0.658238344561727 1.0 0.9516576996207452 8 Q9Y2W2,Q15029,Q8NCM8,Q9P2D1,Q15149,Q96GM5,P25490 7 |
| Nail dysplasia 0.3194633417124081 0.4420267348082107 0.658469859898942 1.0 0.9516576996207452 33 O96028,P42892,O75530 3 |
| Dystrophic toenail 0.4763222970858741 0.4417382125902926 0.6586786544332779 1.0 0.9516576996207452 5 O75844 1 |
| Malrotation of small bowel 0.4761105300978189 0.4410330763232685 0.6591890515371597 1.0 0.9516576996207452 5 O96028 1 |
| Coma 0.313228102150841 0.4406132038780654 0.6594930422296916 1.0 0.9516576996207452 38 Q13423,P23786,O43772,P31751,P05067,P50336 6 |
| Increased head circumference 0.280095131333177 0.4392294977049663 0.6604952533882638 1.0 0.9526033700582632 132 P07942,P55263,Q8TD16,P02545,Q8N3R9,P11166,P49748,Q15392,Q14739,Q969N2,O00754,P55011,P07602,O43505,Q9H9S5,P08236,P51798,O75530,Q13555,Q15437,Q8NAT1,Q01082,P15291,O60826,O75844 25 |
| Foam cells 0.4507615322857202 0.4386247017235195 0.6609334954087802 1.0 0.9526033700582632 6 P16278,O15118 2 |
| Rapidly progressive 0.3857293548794088 0.4375121979817342 0.6617399317801953 1.0 0.9529301093841238 11 Q14108,Q8NHS3 2 |
| Abnormality of the musculature of the hand 0.3140432914617299 0.4353834526512719 0.6632841193107328 1.0 0.9542883454403976 36 Q9NR77,Q8TD16,P46783,Q14203,P07196 5 |
| Duodenal adenocarcinoma 0.4644328481186383 0.4344650466137775 0.6639507716415509 1.0 0.9542883454403976 2 P43246 1 |
| Flexion contracture of digit 0.29244183882434 0.4329917094032611 0.6650207928400604 1.0 0.9542883454403976 80 O95155,Q8WVQ1,Q8N0X7,Q7RTS9,Q71SY5,P02545,P06753,P42892,O75530,O60826,O75844,P11274,P07196 13 |
| Developmental regression 0.278005941380885 0.4327305757890779 0.6652105141999249 1.0 0.9542883454403976 134 Q86VD7,Q9UIG0,O14773,O75503,P06280,P16278,O95831,O75251,Q969N2,Q13813,O14936,P03886,Q15046,P07602,Q15056,P00846,Q96F07,P17480,P49792,P55795,Q9NZ08,O75306,Q01082,O43681,P49770,Q9GZY8 26 |
| Abnormal cornea morphology 0.283649911717456 0.4326309118316979 0.665282928691183 1.0 0.9542883454403976 177 Q13045,Q9HD42,Q71SY5,Q8N201,P02545,Q8N3R9,P39210,Q9Y5Z9,O00192,Q9UBM7,Q96EK5,P06280,Q16625,P16278,O60566,O43395,Q8NCH0,Q96L58,Q14739,Q13868,Q969N2,Q8WYQ5,Q5H8A4,P10619,Q96L73,O00754,P55011,Q15056,O15078,Q9NWM8,O43505,P52732,P34059,Q9H9S5,P08236,O15287,O96028,P04062,P31749,Q15051,Q9UQE7,Q15555,P04066,Q8WWY3,O75569,Q9NZ08,Q8NAT1,O75844,O75175,Q9UIG0 50 |
| Overlapping toe 0.3389814026680914 0.4321079925575825 0.6656629259606388 1.0 0.9542883454403976 23 Q71SY5,O60826,Q9UHX1 3 |
| Thoracolumbar kyphosis 0.4487541975199186 0.4316414826914323 0.6660020038743222 1.0 0.9542883454403976 6 O00754,P08236,P04062 3 |
| Abnormality of coordination 0.3313216426250223 0.430742686619796 0.6666554770484234 1.0 0.9542883454403976 355 Q99720,Q86VD7,Q14108,O15118,Q7RTS9,P06753,O75298,O75027,P39210,O14773,O75503,Q7KZN9,P05067,Q9NR77,P16278,P11166,Q8N0X7,Q9Y487,O43676,O75787,O95831,O75251,Q8NHS3,Q9BPX6,Q96RR1,Q969N2,Q9BUB7,Q6DKK2,O14936,P03886,P20700,O00754,P07602,Q8IV08,P50897,O15078,Q15056,Q8WXW3,P00846,Q7LG56,Q03252,Q96F07,Q9Y448,Q9H9S5,O75530,O96028,P41440,Q96CU9,Q15051,O00584,P61916,Q9NZ08,Q15437,Q01082,O43681,Q9NWW5,O75380,Q9NUN5,P07196 59 |
| Microretrognathia 0.3393897050488572 0.4304240235252216 0.6668872230719649 1.0 0.9542883454403976 18 Q9UHX1,Q8NCH0,Q8WVQ1,Q8N201,Q9BUB7 5 |
| Low set posteriorly rotated ears 0.2929801571097425 0.4300683648065435 0.6671459115020526 1.0 0.9542883454403976 83 Q9UQE7,O60566,O95155,Q15555,P98175,Q4J6C6,O15078,Q96L58,Q8WVQ1,Q8NCH0,Q15056,Q15392,Q96RK4,O75530,O96028,Q9UBM7,Q13049,Q9UIG0 18 |
| Ocular albinism 0.4725082565075725 0.4291029797183532 0.6678482839160584 1.0 0.9542883454403976 5 O95155 1 |
| Ventriculomegaly 0.2968882713906866 0.4283400223179735 0.668403584612725 1.0 0.9542883454403976 211 Q13045,Q86XL3,Q01105,Q8TD16,Q71SY5,Q5KU26,Q9HC21,Q9UBM7,Q96EK5,Q16625,P16278,Q9UHX1,Q8NCH0,Q9Y487,Q15392,O75787,Q6ZXV5,O14936,P20700,Q9Y3D3,O95155,P07602,O15078,P23786,P00846,O43505,Q03252,Q96F07,Q9Y448,Q9H9S5,P11177,O96028,Q9BX67,Q96CU9,Q969M3,Q9UQE7,O00584,P35606,O75306,Q8NAT1,Q01082,P15291,Q93009,O60826 44 |
| Abnormality of fluid regulation 0.2788628512851058 0.426138894529306 0.6700066402241838 1.0 0.9542883454403976 167 P22830,Q14108,P14174,Q9UBM7,P06280,P16278,P28070,Q14739,P00813,Q96RR1,P10619,Q9Y3D3,Q15056,P23786,Q7LG56,P52732,O43707,Q9Y448,P08236,Q8N1F7,Q9UQE7,Q15555,Q9NZ08,P46783,Q14331,Q01082 26 |
| Abnormal liver morphology 0.3150162811992016 0.4256864825989556 0.6703363131227358 1.0 0.9542883454403976 269 P22830,P55263,Q14108,O15118,Q9HC07,O43772,P14174,P02545,P10253,P39210,P54802,Q7KZN9,P16278,P11717,P11166,P49748,P28070,O43676,O75787,P15586,O75251,Q14739,P00813,Q9BUB7,Q13049,P10619,P03886,O00754,O95155,P07602,O15078,P23786,P00846,Q7LG56,Q03252,P08236,O75431,P51798,Q9BX67,Q96CU9,Q9NWS8,Q15051,P04066,P61916,Q9NWH9,O75306,Q01082,P31751,Q96HY6,O75380 50 |
| Abnormality of periauricular region 0.3378124111119454 0.4250067338651979 0.6708317658691312 1.0 0.9542883454403976 23 O96028 1 |
| Hypoventilation 0.3554570289792751 0.4249780993966222 0.6708526399983823 1.0 0.9542883454403976 16 O75380,P06753,Q9H9S5,Q14203 4 |
| Protruding tongue 0.3800246519602883 0.4238454171603048 0.6716785532062066 1.0 0.9545230081801964 12 P20700,Q9NRZ9,Q10713,P42356,O15111,O60826 6 |
| Abnormal aortic valve cusp morphology 0.3324877147263712 0.4224969690909922 0.6726623125400273 1.0 0.9553895167191844 27 Q9UQE7,Q9UHX1,Q15056,Q96L58,Q01082,Q9UIG0 6 |
| Schizophrenia 0.3380691402938046 0.4223280966847205 0.6727855528155895 1.0 0.9553895167191844 21 P07602,O43681 2 |
| Abnormality of fundus pigmentation 0.4702769229769435 0.4217753902636347 0.6731889702229696 1.0 0.9553895167191844 5 Q9Y619,O15484 2 |
| Abnormal thalamic mri signal intensity 0.3967104165407562 0.4214509677732198 0.6734258082450872 1.0 0.9553895167191844 9 Q96RR1,Q9GZY8 2 |
| High frequency sensorineural hearing impairment 0.4699607977581511 0.420741157309551 0.6739441038083356 1.0 0.9554613508550214 5 Q9NWM8,P02545,O75844 3 |
| Calvarial hyperostosis 0.4454995612922045 0.4204054055685315 0.6741893198738143 1.0 0.9554613508550214 6 P22626,P10644,Q15043,P31749 4 |
| Motor seizure 0.2890263815669454 0.4192810232126783 0.6750107637270344 1.0 0.95593048264771 115 Q05639,Q01105,Q96N67,Q71SY5,O75503,Q9Y619,P16278,P11166,O60566,Q9Y6N5,Q9UBX3,O75787,Q8NHS3,Q9NXR1,Q969N2,Q13813,Q96L73,P03886,O14936,P55011,P07602,Q15046,P00846,Q9Y4W6,Q9UBB6,Q9Y448,P04062,Q9Y3C6,Q96N66,Q14139,Q01082,P42356,Q9NUQ7,Q9GZY8 34 |
| Duodenal atresia 0.4195520487186898 0.4180669375973203 0.6758981773037522 1.0 0.95593048264771 7 O60566 1 |
| Contractures of the joints of the lower limbs 0.2943245262549128 0.4180302184694154 0.6759250235003207 1.0 0.95593048264771 55 Q99720,Q86XL3,P23786,Q8IZA0,Q8TD16,P02545,P06753,Q9H9S5,Q9HC21 9 |
| Abnormal endocrine physiology 0.4690296852192224 0.4177006181129762 0.6761660203277431 1.0 0.95593048264771 5 P50336 1 |
| Increased muscle lipid content 0.3949670923085807 0.4144082658539969 0.6785751364022969 1.0 0.9575884175103172 9 P23786,P06753,Q9Y4W6 3 |
| Absent brainstem auditory responses 0.5094318349183794 0.4133477841219929 0.679351825117966 1.0 0.9583934217738884 3 P07196 1 |
| Delayed eruption of permanent teeth 0.4675444434041258 0.4128682503586165 0.6797031438317738 1.0 0.9585980301627474 5 Q12824,Q96L73 2 |
| Hamartoma of the eye 0.3944079434827205 0.4121574083736853 0.680224052838017 1.0 0.9590416181851532 9 P31749,Q15437 2 |
| Abnormal abdomen morphology 0.3070980909107048 0.408720012264845 0.6827451457687164 1.0 0.9599747934605825 245 Q14108,O15118,Q9HC07,O43772,P14174,P02545,P10253,P39210,P54802,O00192,P16278,P11166,P49748,P28070,O43676,Q15392,O75787,O75251,P15586,Q14739,P00813,Q9BUB7,P10619,O14936,P03886,O00754,P07602,P23786,P00846,P08236,O75431,P51798,Q9BX67,P11274,Q96CU9,Q9NWS8,P04066,P61916,Q9NZ08,Q9NWH9,Q15437,Q01082,P31751,Q96HY6,O75380 45 |
| Focal t2 hyperintense basal ganglia lesion 0.3336885354093247 0.4076560633192643 0.6835261984148762 1.0 0.9601050363758604 25 P03886,P00846,Q7KZN9,Q96CU9 4 |
| Abnormal glomerular mesangium morphology 0.3355908982800436 0.4074938672442389 0.6836452975141194 1.0 0.9601050363758604 19 P00813,O43707 2 |
| Ankylosis 0.4657097993526646 0.4069293768555504 0.6840598590165317 1.0 0.9601050363758604 5 O75844 1 |
| Short sternum 0.5071888268137027 0.4065925817238387 0.6843072465884679 1.0 0.9601050363758604 3 P98175 1 |
| Agenesis of permanent teeth 0.4559187036528374 0.40549940119857 0.6851104584941581 1.0 0.9601050363758604 2 Q14696 1 |
| Abnormal number of permanent teeth 0.4559187036528374 0.40549940119857 0.6851104584941581 1.0 0.9601050363758604 2 Q14696 1 |
| Astrocytoma 0.3925235176358884 0.404600636420782 0.685771090665432 1.0 0.9601312035944938 9 P20585,P48735 2 |
| Abnormal insulin level 0.3330419946096956 0.403680040429193 0.6864480188500834 1.0 0.9605311483277138 25 O43395,Q15555,Q8WWY3,O95714,P53985,P02545,P31751,O75431,O75844 9 |
| Multifocal seizures 0.4642660802638682 0.402279773856589 0.687478138338457 1.0 0.961201895461374 5 Q10471,Q14683,Q9UGM6,Q6PJG6 4 |
| Multifocal epileptiform discharges 0.3198604569938169 0.4021881094453789 0.6875455923988139 1.0 0.961201895461374 31 Q96N66,P55011,Q9UBX3,Q96N67,Q71SY5,Q01082,O75503,Q969N2,O14936 9 |
| Dimple chin 0.5054945054945069 0.4015217681751513 0.6880360147166193 1.0 0.961482402212418 3 Q15910,Q2VPK5 2 |
| Fetal akinesia sequence 0.4639738932239887 0.4013413381613877 0.6881688324772091 1.0 0.961482402212418 5 P06753 1 |
| Muscular dystrophy 0.3223447380917484 0.4009556017122129 0.688452812234023 1.0 0.961482402212418 30 O60566,P22626,Q8WXH0,P50402,Q13642,O43505,Q14331,P02545,Q8NAT1,Q9H9S5,Q96T60,Q9Y5P6,Q13049 13 |
| Organic aciduria 0.3015641807803342 0.4006669408984027 0.6886653534975979 1.0 0.961482402212418 44 P49748,P23786,Q9NUN5,O43772,O14678,Q9NPF0,P48735,Q8NFF5,P50336 9 |
| Apraxia 0.2873254755483591 0.3996910185044393 0.6893841081571881 1.0 0.961482402212418 69 O96008,Q8N3U4,O14773,Q8N3R9,Q9Y619,P05067,P11166,Q8N0X7,O75787,Q10713,Q6DKK2,P55011,Q15233,O15078,Q8WXW3,Q9Y4W6,P11274,Q9NQT5,Q93009,P42356,O75175 21 |
| Abnormality of the skull base 0.2872956429643603 0.3993834541898663 0.6896106835752076 1.0 0.961482402212418 69 O00754,Q9UHX1,O60826,P49748,O15078,Q96L58,Q9Y487,P23786,P80404,O43505,Q14739,P15291,Q9H9S5,Q9UBM7 14 |
| Duplication of hand bones 0.2890915803085382 0.397896758196508 0.6907062897631737 1.0 0.9618799304034844 66 Q13045,Q9UHX1,Q8WVQ1,P98175,O15078,Q8WXW3,O60826,P46783,Q14739,Q96RK4,O00192,Q9UBM7,O96028,Q13049 14 |
| Hip dysplasia 0.2920670572125243 0.397653305602349 0.6908857616175794 1.0 0.9618799304034844 54 Q9UQE7,P55011,Q9UHX1,O95155,Q96L58,Q8TD16,P02545,Q93009,Q8N3R9,O96028 10 |
| Neoplasm of fatty tissue 0.3740802453676461 0.3970308225258048 0.6913447315574861 1.0 0.9618799304034844 12 P27635,Q9Y2U8,Q15437,O95140,P31749 5 |
| Nausea and vomiting 0.2704668231935849 0.395694626699558 0.6923303199344004 1.0 0.9620813223553848 153 Q8IZA0,P39210,Q9UBM7,P06280,A2RRP1,P49748,O43676,Q14203,O75251,P42892,P50336,P00403,P03886,P22695,P07602,Q15046,Q15056,P23786,P00846,Q7LG56,Q96CU9,P31749,Q68CQ7,Q13423,Q9NZ08,Q9NWH9,Q15165,O75306,Q01082,P11117,O75380,Q9UIG0 32 |
| Athetosis 0.3333625472431079 0.3947329654974997 0.6930399713250357 1.0 0.9620813223553848 19 Q96CU9,O00584 2 |
| Abnormality of blood circulation 0.2882329071430273 0.3943944994235521 0.6932898042105728 1.0 0.9620813223553848 78 P31040,O75533,Q02241,O76024,P02545,O00192,P05067,Q12824,Q9UHX1,Q9Y487,Q14739,P49257,Q9NXR1,Q9BZK7,Q9UGP8,P23786,O15484,P04062,P35222,P31749,P49792,P16930,P38435,P54277,Q9NZ08,O75844,Q9NUN5,Q9UJS0 28 |
| Abnormality of facial soft tissue 0.2791449160242713 0.3942575390723757 0.6933909086077512 1.0 0.9620813223553848 129 Q86VD7,P02545,P06753,P10253,Q9UBM7,O60313,Q9UHX1,P28070,O75787,Q14203,Q96RR1,Q13049,O00754,Q15056,Q7LG56,Q03252,O43707,Q9Y448,Q9H9S5,P51798,Q8N1F7,Q13555,Q15437,Q14331,Q01082,O60826,O75844,P07196,Q9UIG0 29 |
| Hypocalcemia 0.333248834540256 0.3940842874594666 0.6935188111057942 1.0 0.9620813223553848 19 O00192,P49748,Q4J6C6 3 |
| Reticulocytosis 0.3566177071665659 0.3919310472886498 0.6951091620866761 1.0 0.9633655548431552 15 P11166,Q15437,O14936 3 |
| Glomerular sclerosis 0.3089708563325468 0.3902661848040207 0.6963397253644912 1.0 0.9633655548431552 34 P31040,P03886,Q14108,Q8NFH4,O95470,P57740,O43707,O75431,Q8N1F7,P00403 10 |
| Short phalanx of the thumb 0.3764308635239523 0.3881493600634784 0.6979055057457633 1.0 0.9633655548431552 10 Q9Y448,Q8WVQ1 2 |
| Abnormality of the axillary hair 0.435798735221319 0.3875739089387494 0.6983313802065321 1.0 0.9633655548431552 6 Q9H7N4,P51809,Q14574,P62304,Q8IY37 5 |
| Kyphoscoliosis 0.2901635490389073 0.3873397130774081 0.6985047288825972 1.0 0.9633655548431552 61 Q9NR77,Q8NCH0,Q96L58,Q9HC07,Q9Y487,P02545,Q5KU26,P06753,Q9H9S5,O75844 10 |
| Abnormal protein o linked glycosylation 0.4998270222068623 0.3847635725675227 0.7004125900922353 1.0 0.9633655548431552 3 Q15904 1 |
| Chronic otitis media 0.3172694693273348 0.3845882356034316 0.7005425116026756 1.0 0.9633655548431552 31 Q13045,Q15056,O96028,O00192,Q5H8A4,Q9UIG0 6 |
| Degeneration of the lateral corticospinal tracts 0.3987027983398962 0.3840966734914328 0.7009067969134872 1.0 0.9633655548431552 8 O00400,P35637,O75298,Q14203 4 |
| Aplasia hypoplasia of the hallux 0.3309294156817066 0.3837275075092781 0.7011804225152154 1.0 0.9633655548431552 23 P55011,Q9UHX1,Q8N3R9,O96028,Q5H8A4 5 |
| Sandal gap 0.3141354338750763 0.3824488747336734 0.7021284437960356 1.0 0.9637572460712645 32 A2RRP1,Q8WVQ1,Q96L58,O95714,Q14739,O75431,O75530,Q9Y366,P11274 9 |
| Lower limb asymmetry 0.3977100428160982 0.3804227940571589 0.7036315970620104 1.0 0.9645357025212868 8 Q15555,O95155 2 |
| Microdontia 0.3165710859586759 0.3798724516780033 0.7040400975549794 1.0 0.9645649774708012 31 Q9UQE7,Q15555,Q15056,Q96L58,Q9Y487,Q9Y366 6 |
| Solitary median maxillary central incisor 0.4979651357051135 0.3793278358849589 0.7044444314790799 1.0 0.9645649774708012 3 Q8N3U4 1 |
| Abnormal clavicle morphology 0.3305285795334245 0.3782311157531486 0.7052589123687312 1.0 0.964843387492566 21 Q14739,P02545,O75419,O75431,O75844 5 |
| Abnormal circulating igm level 0.3298625373160775 0.3763705434737268 0.7066414417177656 1.0 0.9651557051997762 18 P00813,Q969N2 2 |
| Exercise intolerance 0.3054030735884266 0.3758318326477712 0.7070419207900109 1.0 0.9651557051997762 37 P03886,P23786,Q7LG56,P06753,Q8NFF5,Q96RR1,Q9Y2R0,P13807 8 |
| Abnormality of the bladder 0.2763125688213015 0.3752626026151833 0.7074651760324338 1.0 0.9651557051997762 131 Q99720,Q86XL3,O75298,O00192,Q9NR77,P11166,Q9UHX1,Q8NCH0,Q8N0X7,Q96RR1,P50336,P20700,P07602,Q15056,Q7LG56,Q9UQE7,P35606,O43681,P07196,Q9UIG0 20 |
| Epidermoid cyst 0.4465806097225991 0.3747822860409635 0.7078223893524378 1.0 0.9651557051997762 2 Q9H488 1 |
| Non midline cleft palate 0.4465806097225935 0.3747822860409465 0.7078223893524505 1.0 0.9651557051997762 2 O15111 1 |
| Bilateral cleft lip and palate 0.4465806097225935 0.3747822860409465 0.7078223893524505 1.0 0.9651557051997762 2 O15111 1 |
| Bilateral cleft palate 0.4465806097225935 0.3747822860409465 0.7078223893524505 1.0 0.9651557051997762 2 O15111 1 |
| Cerebral visual impairment 0.2841560574836365 0.3727743385124724 0.7093164033557886 1.0 0.9660590053910756 73 Q05639,Q01105,Q9HD42,Q8N3U4,Q96N67,Q71SY5,Q96RR1,Q969N2,P00403,P03886,P20700,P55011,Q7LG56,Q9UBB6,Q96CU9,Q96N66,Q14139,Q6PJT7,P35606,Q9BSJ2,Q9NUQ7 21 |
| Stage 5 chronic kidney disease 0.3152652150502645 0.3710875329934741 0.7105723363894489 1.0 0.9672025914475012 31 Q15051,O15078,P23786,O43707,Q8N1F7 5 |
| Abnormality of t cell physiology 0.3369612738878327 0.369580195720085 0.7116953094416774 1.0 0.9681639645712748 17 P00813 1 |
| Abnormal anatomic location of the heart 0.3587143212415785 0.3688065325631871 0.712271935130705 1.0 0.9683437873136946 14 P02545,O75844,O15078 3 |
| Premature ovarian insufficiency 0.3278244988825059 0.3681757802643169 0.7127421684516313 1.0 0.9683437873136946 24 P02545,Q15051,O15078 3 |
| Finger syndactyly 0.2974725441965845 0.3676224397680365 0.7131547802916864 1.0 0.9683437873136946 44 Q96RK4,O60826,P98175,O15078,O15287,Q71SY5,O75530,Q9Y366,Q9UBM7,Q9Y619,Q96EK5,Q13049,P31749,Q96L73 14 |
| Abnormal macrophage morphology 0.4289609308956308 0.3650554162636112 0.7150700402516976 1.0 0.9697337203355274 6 P16278,O15118 2 |
| Occipital meningocele 0.4288019595949688 0.3645382705284832 0.7154561010980707 1.0 0.969872958518884 6 O00192 1 |
| Patent ductus arteriosus 0.2885419511487621 0.3636816374153638 0.7160957569577191 1.0 0.9699891074676408 97 Q9UQE7,Q9Y3D3,Q9UHX1,O60826,Q15233,Q9UBM7,O95155,Q15056,Q969N2,Q15392,P02545,Q6ZXV5,P42892,O75530,O00192,Q6PGP7,O75844,Q9UIG0 18 |
| Abnormal labia minora morphology 0.3930676692330722 0.3634124256771996 0.7162968210297045 1.0 0.9699891074676408 8 O95714,Q9Y619,O75419 3 |
| Abnormal erythrocyte morphology 0.2919453644418786 0.3633054537481434 0.716376719782428 1.0 0.9699891074676408 209 P22830,Q14108,O75027,P00390,Q7KZN9,P06280,P11166,Q9UBX3,P28070,Q96JJ3,O75251,O14678,P00813,Q969N2,P50336,P03886,P07602,O43707,O75431,P41440,P48735,Q96CU9,Q15437,Q9NUN5 24 |
| Aortic arch aneurysm 0.3697668540703803 0.3605757534245732 0.7184166175830788 1.0 0.9711609744269544 10 O95155,Q15056 2 |
| Abnormal superior cerebellar peduncle morphology 0.4913107303251259 0.3601899388241799 0.7187050981395084 1.0 0.9711609744269544 3 O15078 1 |
| Prominent eyelashes 0.3810394713533784 0.359558486907757 0.7191773326494959 1.0 0.9712881446579998 9 Q12824,P20700,Q8TAQ2,P51532 4 |
| Abnormality of iron homeostasis 0.4505601515950284 0.3592256999906368 0.719426252186967 1.0 0.9712881446579998 5 Q6PGP7 1 |
| Vitreous hemorrhage 0.4495496517631162 0.3561321316473063 0.7217416150614846 1.0 0.9718728731355314 5 O15484,P35222 2 |
| Scleroderma 0.4259657975833618 0.3553619081389392 0.7223184818657415 1.0 0.9721816651471248 6 P02545,Q9Y2U8,Q14739 3 |
| Vitritis 0.4893528007580539 0.3546468212074319 0.7228541949338791 1.0 0.9721816651471248 3 P04439 1 |
| Truncus arteriosus 0.3661880442337078 0.3529294282109412 0.7241413481396437 1.0 0.9731367583770496 11 P11274,Q9UHX1 2 |
| Episodic ataxia 0.4484974562979136 0.3529230945991189 0.7241460965069588 1.0 0.9731367583770496 5 P11166 1 |
| Abnormal circulating androgen level 0.35522443049471 0.3525348121384316 0.7244372157202101 1.0 0.973246528317958 14 P31749,Q8IY37,Q13423,P51809 4 |
| Absent thumbnail 0.4707493634144741 0.3507740079187312 0.7257578983804929 1.0 0.974587872203312 4 O14936 1 |
| Macroglossia 0.3012107123038245 0.3499437716270308 0.7263808963723313 1.0 0.974587872203312 38 P16278,O00754,P04066,Q15056,Q15437,Q9H9S5,P10253,P31749,Q9UIG0 9 |
| Hyperphenylalaninemia 0.4383411150782698 0.3486446653965739 0.7273560910807881 1.0 0.974587872203312 2 P09417 1 |
| Distal sensory impairment of all modalities 0.4466735354433759 0.347390087631806 0.7282982791420713 1.0 0.974587872203312 5 O15269 1 |
| Hypohidrosis 0.3639824856842104 0.3437351146401907 0.7310455008289156 1.0 0.9750539951195598 11 P20700,P06280,O14936,Q9Y2V7 4 |
| Myotonia 0.3768226941562043 0.3434791280288637 0.7312380402392222 1.0 0.9750539951195598 9 P50402,Q8WXH0,P02545 3 |
| Skeletal muscle atrophy 0.2811816576599381 0.3431844008550627 0.731459739190838 1.0 0.9750698244463064 185 Q99720,P55263,Q8TD16,Q71SY5,P02545,P06753,O75298,Q13126,P39210,Q9HC21,Q9NR77,P16278,O60313,Q8N0X7,Q7Z406,Q9BQT8,Q14203,O95831,Q13049,Q6DKK2,O15078,O43505,Q7LG56,Q03252,Q9H9S5,Q68CQ7,Q15165,Q14331,Q8NAT1,Q96RK4,P07196 31 |
| Broad neck 0.3636675815203747 0.3424286368483529 0.7320283405779182 1.0 0.9755479491441312 11 P11166,O60826 2 |
| Cerebellar hypoplasia 0.2708036506264065 0.3418219520425891 0.7324848882690451 1.0 0.975876512553398 135 P07942,P98175,Q9HD42,Q8TD16,Q8N3U4,Q8N201,Q9HC21,Q9UBM7,Q16625,O60566,Q9Y487,P80404,Q10713,Q9NXR1,Q969N2,Q5H8A4,Q96KP1,O14936,Q15233,O15078,P23786,Q8WXW3,O43505,Q9Y4W6,P11177,Q9H9S5,Q9BX67,Q9Y3C6,P55795,P25705,Q8NAT1,P15291,P42356,O60826 34 |
| Axonal degeneration 0.3977311487906754 0.3413109191775249 0.7328695286129898 1.0 0.9760710218009064 7 Q9BQT8,Q6DKK2 2 |
| Subcutaneous hemorrhage 0.2899327993584968 0.3410423797125699 0.7330716777602766 1.0 0.9760710218009064 47 P35579,Q14108,Q8NCH0,Q96L58,Q86YV9,Q13126,P51798,O00192 8 |
| Abnormal pulmonary valve physiology 0.2991257112198854 0.3400780002486543 0.7337977887223901 1.0 0.9760710218009064 39 Q9UQE7,P55263,Q15056,O75306,P00813,O60826,Q9UIG0 7 |
| Cutis laxa 0.3009781012088747 0.3393791974533193 0.7343240876987394 1.0 0.9760710218009064 36 Q9Y3D3,Q8NCH0,Q15056,Q96L58,Q9Y487,O75787,O75530,Q9UIG0 8 |
| Type ii transferrin isoform profile 0.4439227651633245 0.3391174216914633 0.7345212746369205 1.0 0.9760710218009064 5 O75787,Q9Y2V7 2 |
| Abnormality of corneal thickness 0.3310669924810623 0.3385777707684171 0.7349278308811489 1.0 0.9760947763954202 17 Q15051,O43395,Q15555,Q8WWY3,O15078 5 |
| Abnormal renal medulla morphology 0.3605463210748553 0.3379212801960834 0.7354225106362708 1.0 0.9764309734076432 12 Q15051,O15078 2 |
| Downturned corners of mouth 0.2936073379656718 0.336899715408291 0.7361924998627991 1.0 0.9764650426905724 44 Q05639,Q9UQE7,Q9UNW9,O95714,Q96A33,Q9Y2U8,Q8N201,Q8IY37,O96028,Q969N2,Q5H8A4,O75175,Q14683 13 |
| Overlapping fingers 0.3637413651188803 0.3362147390963038 0.7367089390301587 1.0 0.9764650426905724 10 Q71SY5 1 |
| Red eye 0.3229297221793307 0.3352268885330829 0.7374539402184281 1.0 0.977173783916463 20 P02786,P28070,Q9NZ08 3 |
| Aplasia hypoplasia of the cerebellum 0.2653954831875003 0.3330714881586177 0.7390803209407286 1.0 0.9782131163234308 151 P07942,P98175,Q9HD42,Q8TD16,Q8N3U4,Q8N201,Q9HC21,Q9UBM7,Q16625,O60566,Q9Y487,P80404,Q10713,Q9NXR1,Q969N2,Q5H8A4,Q96KP1,O14936,P20700,Q15233,O15078,P23786,Q8WXW3,O43505,Q9Y4W6,P11177,Q9H9S5,O96028,Q9BX67,Q9Y3C6,P55795,Q15051,Q9UQE7,P25705,Q8NAT1,P15291,P42356,O60826 38 |
| Erythroderma 0.3606458085057499 0.3299728372481363 0.7414204864227383 1.0 0.9797292347064052 11 P00813 1 |
| Preaxial polydactyly 0.3215092525739169 0.3285169204066396 0.7425208529240024 1.0 0.9797292347064052 19 O96028,Q9UHX1 2 |
| Fine hair 0.3290969071003096 0.3283710753309471 0.7426311101274536 1.0 0.9797292347064052 17 A2RRP1,O75530,Q6PGP7 3 |
| Overweight 0.3825365867301132 0.3259073923989802 0.7444944224816965 1.0 0.9797292347064052 8 Q01082,P49748 2 |
| Pollakisuria 0.4619400934322802 0.3257155830993051 0.7446395530387524 1.0 0.9797292347064052 4 Q06787,O60934,P54886 3 |
| Eeg with polyspike wave complexes 0.3824690608170135 0.3256719516629571 0.744672567587648 1.0 0.9797292347064052 8 P11166,Q14108 2 |
| Irregular vertebral endplates 0.4392459642607716 0.325254904845198 0.7449881575891688 1.0 0.9797292347064052 5 Q96L58,O15228 2 |
| Broad thumb 0.3027643043667588 0.3247288716137259 0.7453862814487235 1.0 0.9797292347064052 33 Q9UHX1,Q8N3R9,O75530 3 |
| Abnormal pulmonary valve morphology 0.3358105719828508 0.3246811911058875 0.7454223714062671 1.0 0.9797292347064052 16 Q9BUB7,O00192 2 |
| Depressed nasal tip 0.4390170968643865 0.3245831616836845 0.7454965728258767 1.0 0.9797292347064052 5 Q01082 1 |
| Congenital hepatic fibrosis 0.3816921712916493 0.3229679487678673 0.7467195155573862 1.0 0.980781681400558 8 O15078 1 |
| Facial asymmetry 0.2983767716918682 0.3208570202394565 0.7483187460455167 1.0 0.9815450424746188 36 A2RRP1,Q9UQE7,Q01105,Q8NCH0,Q9UHX1,Q96JJ3,O15287,O96028,P11274 9 |
| Coloboma 0.2835337506076818 0.3200247901013338 0.7489495382175964 1.0 0.9815450424746188 57 Q9UHX1,O60826,O15078,Q8WXW3,O43505,Q8NAT1,Q8N201,Q01082,Q9H9S5,O96028,Q9UBM7,Q96EK5,Q5H8A4,O14936 14 |
| Abnormal inflammatory response 0.3074873601735123 0.3193277373616231 0.7494780014573132 1.0 0.9815450424746188 266 P22830,Q13045,P26038,P14174,Q71SY5,P02545,P06753,Q13126,P39210,O00192,Q9UBM7,Q13432,P16278,P11717,P35579,P10321,Q8NCH0,P49748,P28070,P02786,Q14739,Q9NXR1,P00813,Q6PGP7,Q5H8A4,Q92542,P00403,P03886,P20700,O00754,Q15056,P52732,Q03252,O43707,Q9Y448,P08236,O15484,P51798,P04439,O96028,P78536,Q8N1F7,P31749,Q9UQE7,Q9NZ08,Q9NWH9,Q15437,Q01082,Q9NQH7,Q9NUN5,Q9UIG0 51 |
| Celiac disease 0.4594668865073031 0.3188367795452849 0.7498502866117589 1.0 0.9815450424746188 4 Q13043,Q9Y5L0,P40763 3 |
| Lateral clavicle hook 0.4593639795958469 0.3185520768823855 0.7500661986129167 1.0 0.9815450424746188 4 Q9Y619 1 |
| Hyperammonemia 0.296476574035083 0.3153971727194345 0.7524601132206192 1.0 0.9823677309579728 38 P22695,Q86VD7,P49748,P23786,O43772,P11177,Q9BUB7 7 |
| Hemianopia 0.357024257414214 0.3152421319972178 0.7525778184227208 1.0 0.9823677309579728 11 P03886,P31749,P00403 3 |
| Underdeveloped tragus 0.4268058225762039 0.3136611517967895 0.7537784091046922 1.0 0.9833824444439936 2 Q5SRE5 1 |
| Aplasia hypoplasia of the cerebellar vermis 0.2811334986153909 0.3115910683545235 0.7553513229641688 1.0 0.9846052167782589 80 Q15051,P07942,O60826,P98175,O15078,P23786,Q9Y487,Q9UBM7,Q8WXW3,O43505,Q8NAT1,Q8N201,P15291,Q9H9S5,Q9HC21 15 |
| Acidemia 0.3460267335693263 0.3106647560449747 0.7560554929409486 1.0 0.98524674024021 14 O14678,Q9NUN5 2 |
| Varicose veins 0.4112912620597326 0.3094526979730828 0.756977188953236 1.0 0.985342576208876 6 O00192 1 |
| Venous insufficiency 0.4112912620597326 0.3094526979730828 0.756977188953236 1.0 0.985342576208876 6 O00192 1 |
| Abnormality of the hallux 0.2819690623366085 0.3071695079712857 0.7587143534273539 1.0 0.9867745872871296 59 P55011,Q9UHX1,Q8WVQ1,Q15056,Q15233,Q96L58,Q93009,Q8N3R9,O96028,O60826,Q5H8A4,P31749,Q9UIG0 13 |
| Ureteral obstruction 0.3668891712032002 0.3066501538727958 0.7591096742862775 1.0 0.9870124947980784 9 Q9UBM7 1 |
| Multifocal cerebral white matter abnormalities 0.4101508532646587 0.3059995924011798 0.7596049561191767 1.0 0.9871348018411924 6 Q9Y619,P10253 2 |
| Motor polyneuropathy 0.3527975144993771 0.3054106167390059 0.7600534368383445 1.0 0.9871348018411924 12 P07196 1 |
| Epistaxis 0.331698886701552 0.3046102904978131 0.7606629815967008 1.0 0.9873745462234268 16 P35579,P12814,P38435,Q86YV9,P49257,P04062 6 |
| Hemiplegia hemiparesis 0.2867923125520938 0.3038197882132182 0.7612651901234937 1.0 0.9876677286463522 46 P03886,P11166,O60313,Q15051,O95155,O15078,Q9NZ08,Q7LG56,Q9H9S5,P00403 10 |
| Adducted thumb 0.3022646327746399 0.3026110137144995 0.762186320067801 1.0 0.9879720583975092 32 Q8NCH0,Q15056,Q96L58,Q71SY5,P42892,Q9UIG0 6 |
| Broad philtrum 0.3439697065003548 0.3015125566879126 0.7630236764052429 1.0 0.9887816576283224 14 Q12824,P11166,Q96CW1,P51532,Q01082,Q9BZK7,Q8TAQ2 7 |
| Abnormal nasal mucosa morphology 0.4526474550396043 0.3002360497513907 0.7639971090007902 1.0 0.9889801621553896 4 Q13432 1 |
| Abnormality of globe size 0.2767984618527115 0.2998966413162163 0.764255996329513 1.0 0.9889801621553896 70 P11166,O60566,Q9UHX1,Q15555,O15078,O75569,O15287,O43505,Q96N67,P52732,Q71SY5,Q8N201,P30533,Q9H9S5,Q8NAT1,O75431,O00192,O14936 18 |
| Leukodystrophy 0.2799101543610954 0.299358390245945 0.7646666069774726 1.0 0.9889801621553896 64 P03886,P20700,P07602,O43676,O75251,Q01082,O43681,O75380,Q7KZN9,Q96CU9 10 |
| Oculomotor apraxia 0.3106873776577488 0.29852971050202 0.765298903593393 1.0 0.9894781631044932 28 O15078,Q8WXW3,O96008,Q9NQT5,Q10713,Q9Y4W6,O14773,P11274,P05067 9 |
| Vocal cord paresis 0.4518232939669656 0.2980250905544548 0.7656840137832361 1.0 0.9894781631044932 4 O95140 1 |
| Abnormal size of pituitary gland 0.4069672266174287 0.2964506358567915 0.7668859603339377 1.0 0.9900130429440344 6 P35222,Q9NXR1,P31749 3 |
| Abnormal serum iron concentration 0.45118751280159 0.2963250222922626 0.7669818785603424 1.0 0.9900130429440344 4 Q6PGP7 1 |
| Broad forehead 0.2894981499474285 0.2960442365567079 0.7671962988048096 1.0 0.9900130429440344 43 Q13045,O00754,Q8NCH0,Q15056,Q9UIG0,Q01082,O75530,O60826,O14936 9 |
| Abnormality of alkaline phosphatase level 0.3148956881307608 0.2958729772176043 0.7673270886641856 1.0 0.9900130429440344 25 Q13043,Q9Y2V7,P22626,Q96JJ3,Q96A33,Q14739,P51798,Q969N2,P11274,Q9UJS0 10 |
| Shyness 0.4508522170289174 0.2954303915904165 0.7676651196732802 1.0 0.9900130429440344 4 Q15233 1 |
| Dilatation of the cerebral artery 0.353032603991787 0.2943553549884227 0.7684863779832058 1.0 0.99061198293702 10 Q01082,P42224,P10253 3 |
| Increased serum iron 0.4667379980074033 0.2936781742166775 0.7690038337036198 1.0 0.9906253045927615 3 Q6PGP7 1 |
| Ovarian neoplasm 0.3121606033881027 0.2878339681838684 0.7734738343212175 1.0 0.99395725111158 26 P20585,P51809,Q92878,P31749,P02545,P48735,P35222,Q01844 8 |
| Vestibular dysfunction 0.3024484474605458 0.28732676138944 0.7738621335316755 1.0 0.99395725111158 31 P41440,Q9NZ08,P06280 3 |
| Short fourth metatarsal 0.4640109890109908 0.2867231700221058 0.774324295029682 1.0 0.994048106351692 3 Q9NQ48,Q15910 2 |
| Abnormality of the nasal alae 0.2744467149042943 0.2861716470627225 0.7747466584146889 1.0 0.994048106351692 178 Q13045,O15344,P98175,Q96N67,Q71SY5,Q5KU26,Q9Y366,Q9UBM7,Q16625,P16278,P11166,O60566,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,Q15392,P15586,O95831,Q13868,Q9BUB7,Q6PGP7,Q969N2,P29372,O14936,O15078,Q8WXW3,P52732,Q9Y448,O75431,P11274,P31749,P55795,Q9UQE7,O15228,Q15555,Q01082,P10586 38 |
| Left atrial enlargement 0.4635926929210348 0.2856641862215135 0.775135337355445 1.0 0.994048106351692 3 P13807 1 |
| Abnormal left atrium morphology 0.4635926929210348 0.2856641862215135 0.775135337355445 1.0 0.994048106351692 3 P13807 1 |
| Neoplasm of the male external genitalia 0.3477969381598986 0.2849899914572348 0.7756518097774197 1.0 0.994048106351692 12 P31749,Q13423,P51809 3 |
| Anhidrosis 0.4249008225178862 0.2843921096925658 0.7761099050370683 1.0 0.994048106351692 5 P04066 1 |
| Ectopic kidney 0.3274312125812727 0.2841522387430264 0.7762937153612544 1.0 0.994048106351692 16 Q9BX67,Q9Y448,Q9UHX1,Q15056 4 |
| Cardiovascular calcification 0.3501300196781269 0.2833442980804068 0.7769129230261496 1.0 0.994048106351692 10 P02545,P42224,O75431,P04062,O75844 5 |
| Large basal ganglia 0.3130616473195096 0.2832157090235602 0.7770114870751177 1.0 0.994048106351692 19 Q96N66,Q14139,P55011,Q71SY5,Q9UBB6,Q9NUQ7 6 |
| Aplasia hypoplasia of the phalanges of the thumb 0.3489080305622798 0.2830460364349089 0.7771415473156222 1.0 0.994048106351692 11 Q9Y448,Q8WVQ1 2 |
| Nasal regurgitation 0.4155451798956253 0.2814207051344184 0.7783877391647014 1.0 0.994474301063562 2 Q9BUF5 1 |
| Abnormal circulating estrogen level 0.3465429375351208 0.279940855373454 0.7795228817658901 1.0 0.9949032770024968 12 Q8IY37,P57740,P31749,P51809 4 |
| Hypoplastic nipples 0.3479722986793935 0.2794093920191288 0.7799306642058768 1.0 0.9951504109183716 11 P10586 1 |
| Abnormality of muscle size 0.2900642657043075 0.2790620004409442 0.7801972443606573 1.0 0.9952172919417992 219 Q99720,P55263,Q8TD16,Q71SY5,P02545,P06753,O75298,Q13126,P10253,P39210,Q9HC21,Q9NR77,P16278,O60313,Q8N0X7,Q9Y487,Q7Z406,Q9BQT8,Q14203,O95831,Q13049,Q6DKK2,O00754,Q15056,O15078,O43505,Q7LG56,Q03252,Q9H9S5,P04066,Q68CQ7,Q15165,Q15437,Q14331,Q8NAT1,Q96RK4,P07196,Q9UIG0 38 |
| Limited hip movement 0.3192455991772907 0.2785877212325407 0.780561236831433 1.0 0.9954083610196676 17 P02545,O75844,Q8TD16 3 |
| Abnormal electroretinogram 0.2905720565434193 0.2778569306841953 0.7811221867818592 1.0 0.9958504257819752 39 Q15051,Q15555,O15078,P50897,P00846,O15484,Q13049 7 |
| Puberty and gonadal disorders 0.2707451519598699 0.2762970069436914 0.7823199545918378 1.0 0.9971039026298052 171 Q13045,Q14108,Q4J6C6,Q8IWS0,P02545,Q8N3R9,Q9UBM7,P06280,O60313,O43395,O95714,Q96RR1,Q969N2,Q13049,P00403,P03886,O14936,P55011,O95155,Q15056,Q15233,O15078,Q7LG56,O95470,O15287,O96028,P04062,P48735,O43172,P31749,Q9UQE7,Q15555,Q8WWY3,Q13423,P51809,Q01082,Q93009,Q16740,Q96RK4,O75844,O75175,P49770,Q9UIG0 43 |
| Urethrovaginal fistula 0.4133479813238001 0.2753584828228558 0.783040837482766 1.0 0.99747554051053 2 Q8NCM8 1 |
| Bifid epiglottis 0.4133479813238001 0.2753584828228558 0.783040837482766 1.0 0.99747554051053 2 Q8NCM8 1 |
| Abnormal circulating iga level 0.3254944409936374 0.2749983782229581 0.7833174842828357 1.0 0.9975544942346772 16 P00813,Q969N2 2 |
| Poor coordination 0.3466169367125538 0.2741702918734988 0.7839537573220436 1.0 0.9978178883252636 11 Q96L73,Q9Y619,O75530 3 |
| Poor wound healing 0.3763131204075929 0.2721128474137437 0.785535251345566 1.0 0.9982917851135248 7 P40818,O15269,P04062 3 |
| Saccadic smooth pursuit 0.4202079061724195 0.2715899966357205 0.7859372919715057 1.0 0.9982917851135248 5 O14773,Q10713 2 |
| Neoplasm of the endocrine system 0.2835986857495702 0.2687212478475151 0.788144199598356 1.0 0.9983285763598814 45 P02545,P20585,P42892,Q15437 4 |
| Prominent nasal bridge 0.277478832874371 0.2664682216060677 0.78987863039537 1.0 0.9983285763598814 57 P20700,Q9UQE7,O15078,Q8WXW3,Q8WVM7,Q96N67,P11274,Q9NXR1,P42892,Q96RK4,O00192,Q96EK5,Q13049,O14936 14 |
| Muscle weakness 0.3150449300137621 0.266270004226924 0.7900312726069734 1.0 0.9983285763598814 313 Q99720,Q4J6C6,Q9HC07,Q7RTS9,Q8TD16,O43772,Q71SY5,P02545,Q5KU26,P06753,Q13126,P10253,P39210,O75298,Q00796,Q9NR77,Q70HW3,Q9UHX1,Q8NCH0,P49748,Q8N0X7,O43676,Q7Z406,Q14203,O95831,O75251,Q14739,Q9BPX6,Q96RR1,Q13049,Q6DKK2,P50336,P03886,P20700,O14936,P07602,P23786,P00846,O43505,Q7LG56,Q96F07,Q9H9S5,P51798,P41440,Q96CU9,Q68CQ7,Q15165,O75306,Q14331,O43681,O75380,Q8NFF5,P07196,Q9GZY8 54 |
| Abnormal cerebral artery morphology 0.3092724399281426 0.2659713299395856 0.7902612893676557 1.0 0.9983285763598814 18 P10253,P05067 2 |
| Dysphonia 0.2910544857889559 0.2658791077933674 0.7903323157105797 1.0 0.9983285763598814 34 P20700,Q15056,Q15233,O75569,Q14203,Q96RR1,Q6DKK2,Q9UIG0 8 |
| Recurrent fractures 0.2908878198275634 0.264771116399772 0.791185788782891 1.0 0.9983285763598814 34 Q96L58,P48735,Q13126,O75718 4 |
| Facial hypotonia 0.3294794942075767 0.2639172839318614 0.7918436570387097 1.0 0.9983285763598814 15 O00754,P10253,Q8N3U4,Q13555 4 |
| Abnormally low pitched voice 0.3546561398265008 0.263465409478926 0.7921918812154924 1.0 0.9983285763598814 9 Q9UQE7,Q96L73,Q14683,O75530 4 |
| Arthropathy 0.3729372937293843 0.2618219126106073 0.7934587443913361 1.0 0.9983285763598814 7 O15269,Q9Y3Z3,P40763,Q6DD88,O95163,Q9UBC1 6 |
| Thyroid adenoma 0.3948620814080981 0.2614029311040096 0.7937817969055962 1.0 0.9983285763598814 6 P20585 1 |
| Agammaglobulinemia 0.4533730430909011 0.2604511592023426 0.7945157848160651 1.0 0.998408559232086 3 Q9NRZ9 1 |
| Reduced forced vital capacity 0.4153043163801606 0.2585229503966864 0.7960033389183778 1.0 1.0 5 P06753,Q9H9S5 2 |
| Dyspareunia 0.4355592195658316 0.2560881302817919 0.7978827871222272 1.0 1.0 4 Q9P2D1,P01889,O00170 3 |
| Recurrent ear infections 0.4142431474860412 0.2557374912000126 0.7981535437585925 1.0 1.0 5 Q9Y448 1 |
| Visual hallucinations 0.3924300187426584 0.2546098407623399 0.7990244578033341 1.0 1.0 6 Q9NWW5 1 |
| Hypoplasia of penis 0.2741842103691012 0.2539932130161735 0.7995008014365697 1.0 1.0 119 Q8IWS0,O75419,Q9UBM7,Q9Y619,Q9H0U9,O60566,O43395,O95714,Q10713,P42892,P55265,Q13049,Q14839,Q96L73,O14936,O95155,Q15056,O15078,O43505,Q03252,Q9H9S5,O95470,O75530,O43172,Q9UQE7,Q15555,Q8WWY3,P51809,Q8NAT1,Q01082,Q93009,Q96RK4,O60826,Q15042,Q9UIG0 35 |
| Hip dislocation 0.2733048283622738 0.2537674242101952 0.7996752414836421 1.0 1.0 68 Q9UQE7,P55011,Q9UHX1,Q96L58,Q9Y487,O15287,Q8TD16,Q9NQT5,P02545,P06753,Q9H9S5,O96028,Q9UBM7,O75844,P31749 15 |
| Congenital diaphragmatic hernia 0.3076991391928314 0.2533994881152617 0.7999595231772498 1.0 1.0 24 O96028,Q9UBM7,Q5H8A4,Q9UQE7 4 |
| Syringomyelia 0.4130573315252746 0.2526428507342304 0.8005442138170575 1.0 1.0 5 Q9Y2U8 1 |
| Semilobar holoprosencephaly 0.4337652378211835 0.2516651302339998 0.8012999116728952 1.0 1.0 4 Q8N3U4 1 |
| Anisopoikilocytosis 0.449175824175826 0.2504700389991416 0.8022238718147465 1.0 1.0 3 O75845,Q05682 2 |
| Axonal degeneration regeneration 0.4322682792805068 0.2480060591805602 0.8041297186879801 1.0 1.0 4 P02545 1 |
| Hypogonadotropic hypogonadism 0.2936547101778238 0.2473837945925212 0.8046112145459228 1.0 1.0 32 P03886,Q15056,O95714,Q9UIG0,Q7LG56,P35222,Q15042,Q8IY37,P31749,P00403 10 |
| Bulbar palsy 0.3380267833472277 0.2464449210727154 0.8053378362835553 1.0 1.0 12 O43681 1 |
| Limited elbow movement 0.2860005432331634 0.24568344598034 0.8059272876969867 1.0 1.0 39 Q96L58,P23786,Q7RTS9,Q8WVM7,P02545,P06753 6 |
| Myoglobinuria 0.3390445064484804 0.2455339595357215 0.8060430168468902 1.0 1.0 11 P23786,Q9H9S5 2 |
| Bone marrow foam cells 0.4468944388559906 0.2451379106406285 0.8063496498052003 1.0 1.0 3 O15118 1 |
| Bilateral cleft lip 0.4467032967032984 0.2446941642689575 0.8066932469468284 1.0 1.0 3 O15111,Q9NXE4 2 |
| Cutaneous cyst 0.4467032967032984 0.2446941642689575 0.8066932469468284 1.0 1.0 3 Q9H488,Q8TAA9 2 |
| Squamous cell carcinoma of the skin 0.4305574346731188 0.2438596245305374 0.8073395402179984 1.0 1.0 4 P02545 1 |
| Increased proteinogenic amino acid level in urine 0.3354373582152642 0.2429834603061456 0.8080182103110842 1.0 1.0 13 Q9NUN5,Q4J6C6 2 |
| Decreased cd4 cd8 ratio 0.4299746433871429 0.2424558326005808 0.8084269764295375 1.0 1.0 4 Q13432 1 |
| Postaxial polydactyly 0.2989282526902676 0.2396238807052851 0.8106218499340019 1.0 1.0 29 P98175,O15078,Q14739,Q96RK4,Q9Y366,Q9UBM7,Q13049 7 |
| Short foot 0.2868217562779824 0.2380526483487853 0.8118402601946288 1.0 1.0 34 Q9UQE7,O95155,Q9NX62,Q8N0X7,Q13555 5 |
| Panniculitis 0.3468109023535871 0.2371243188667453 0.8125603465802027 1.0 1.0 9 P28070 1 |
| Optic disc hypoplasia 0.3859581260131501 0.2369518149050736 0.8126941718946583 1.0 1.0 6 O14802,Q96KP1,Q00839,Q9H3H1 4 |
| Epileptic encephalopathy 0.3001325938916075 0.2363705187270958 0.8131451707402584 1.0 1.0 28 P11166,Q8WVM7,Q96F07,Q96RR1,Q13813 5 |
| Recurrent bacterial infections 0.3046818154108672 0.2361864481541042 0.8132879948852367 1.0 1.0 23 P00813,Q9Y448,P78536 3 |
| Bowel diverticulosis 0.336963235112875 0.2353195794006977 0.8139606995915754 1.0 1.0 10 Q15056,Q9UIG0 2 |
| Congestive heart failure 0.2713652753938838 0.2352993829672765 0.8139763740008015 1.0 1.0 68 P16278,P03886,Q70HW3,Q15555,Q15056,O75306,P02545,Q01082,P25705,P10253,P09493,Q9BUB7,P06280 13 |
| Arterial rupture 0.4417582417582437 0.2333762485745056 0.8154692549065672 1.0 1.0 3 Q9NWM8,O60568 2 |
| Abnormal central sensory function 0.4051375259583562 0.2324684707386658 0.816174173183287 1.0 1.0 5 O75787,P31749 2 |
| Gonadal dysgenesis 0.3352472920908544 0.2315926732273401 0.8168543987348937 1.0 1.0 11 Q96RR1,P57740,P51809 3 |
| Dysarthria 0.2667109756856297 0.2298174270715471 0.8182336422971375 1.0 1.0 169 Q14108,O15118,Q9UEY8,O75027,O14773,O75503,Q7KZN9,Q5THJ4,P11166,Q8N0X7,P15586,Q14203,Q10713,O75251,Q9H6K4,Q96RR1,Q6DKK2,P20700,O00754,P07602,Q8IV08,Q15233,Q15056,P00846,Q7LG56,Q9Y4W6,P41440,Q96CU9,P17480,P49792,P61916,O75569,O75306,O43681,P42356,P07196,P49770,Q9UIG0 38 |
| Decreased fertility in females 0.3613861386138736 0.2279690576318768 0.819670295610476 1.0 1.0 7 P51809,Q96RD7,Q15645,Q8IY37,O00170,P54132 6 |
| Productive cough 0.3613861386138728 0.2279690576318745 0.8196702956104778 1.0 1.0 7 Q6UN15,P10644,Q14980,P40763,P06748,Q9BZK7 6 |
| Restrictive ventilatory defect 0.3211730404348604 0.2277470215535093 0.8198429149613138 1.0 1.0 15 P16278,Q96L58,Q9H9S5 3 |
| Paraparesis 0.2966069354446557 0.2261158731034405 0.8211112993283147 1.0 1.0 29 P31040,Q8N0X7,P35637,O75787,Q9Y4W6,Q9H6K4,P42356,P04062,Q9Y619,Q6DKK2 10 |
| Spotty hypopigmentation 0.3941224938203754 0.2256335690735176 0.8214864297009905 1.0 1.0 2 Q9NP58 1 |
| Abnormality of the abdominal wall 0.2645297858279805 0.2244558656485217 0.8224026048903401 1.0 1.0 132 Q71SY5,P02545,O00192,Q9UBM7,P16278,Q9UHX1,Q8NCH0,Q8WVQ1,Q9Y487,Q96JJ3,Q14739,O14678,Q9BUB7,O14936,O00754,Q15056,Q9Y448,O75530,P11274,Q15555,P04066,Q96HY6,O60826,O75844 24 |
| Abnormality of vitamin metabolism 0.2962612384865029 0.2241195564969615 0.8226642756275151 1.0 1.0 29 O14678,Q01082,P41440,Q9NUN5 4 |
| Abnormal thorax morphology 0.295436075467854 0.2239577278696785 0.8227901960209003 1.0 1.0 246 P98175,Q7RTS9,Q8TD16,O75419,Q71SY5,Q8N201,P02545,P06753,Q8N3R9,P54802,Q9Y366,Q9UBM7,O00192,P16278,P11166,O60313,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,Q96JJ3,P15586,O75718,O95831,Q14739,Q6ZXV5,P00813,Q969N2,O00754,P55011,O95155,Q15056,P08236,O75431,P51798,O96028,Q9UQE7,Q15555,P04066,Q9NWH9,P46783,Q15437,Q14331,Q96HY6,O60826,O75844,P07196,Q9UIG0 49 |
| Abnormal circulating follicle stimulating hormone concentration 0.3598131174925596 0.2235264512753327 0.8231257987186551 1.0 1.0 7 Q8IY37,P31749,P51809 3 |
| Abnormal odontoid tissue morphology 0.270657963803614 0.223019048292275 0.823520681436126 1.0 1.0 50 P16278,Q9Y366,Q15056,Q96L58,Q9HC07,Q96JJ3,Q6P4Q7,O00192,Q9UBM7 9 |
| Oligomenorrhea 0.3590359853669577 0.2213467753334042 0.8248224316374109 1.0 1.0 7 P31751 1 |
| Spinal canal stenosis 0.3501781656124619 0.2212269762505884 0.8249157055756369 1.0 1.0 8 O95155,P31749 2 |
| Bimanual synkinesia 0.4354395604395623 0.2193741074129019 0.826358638085404 1.0 1.0 3 P19022,Q9P2D1 2 |
| Abnormal libido 0.4354395604395622 0.2193741074129016 0.8263586380854042 1.0 1.0 3 Q9P2D1,O00170 2 |
| Emotional lability 0.2717836164621489 0.2172037378711437 0.8280495718205398 1.0 1.0 59 P07602,Q68CQ7,Q8N0X7,Q15165,Q14203,O75251,Q01082,O43681,Q7KZN9,Q96CU9 10 |
| Leukocytosis 0.2993379350868403 0.2160610412510435 0.8289401670209671 1.0 1.0 26 P00813,P11274,Q03252 3 |
| Aplasia hypoplasia of the ribs 0.3000070526830247 0.2137921694039983 0.8307091316926767 1.0 1.0 25 Q9UHX1,O95155,Q96L58,Q96HY6,O60826 5 |
| Poor appetite 0.3054463365900106 0.2127223367686057 0.8315435432657616 1.0 1.0 17 P11274,Q70HW3,P06753 3 |
| Exercise induced myoglobinuria 0.3764982845927376 0.2122665522816714 0.8318990882488826 1.0 1.0 6 Q9H9S5 1 |
| Abnormal joint morphology 0.3095363735539455 0.2111813593683411 0.8327457558154558 1.0 1.0 303 Q14108,Q9HD42,Q7RTS9,Q8IZA0,Q8TD16,Q8WVM7,P14174,Q71SY5,P02545,P06753,O75298,Q9Y366,Q9UBM7,O00192,P06280,Q9NR77,P16278,Q9UHX1,Q8NCH0,Q8WVQ1,Q8N0X7,Q96L58,Q9Y487,P28070,Q7Z406,Q15392,O75787,O95831,O75718,Q14739,Q6ZXV5,P42892,Q9BUB7,Q969N2,O00754,P55011,O95155,P07602,Q15056,P23786,Q03252,Q9Y448,Q9H9S5,P08236,O75431,P51798,O75530,O96028,P11274,Q9UQE7,Q9NX62,Q9NZ08,Q01082,Q96HY6,Q9NUQ7,O75844,P07196,Q9UIG0 58 |
| Recurrent herpes 0.4163866700066643 0.2109967770540228 0.8328897862834794 1.0 1.0 4 Q13432 1 |
| Limb fasciculations 0.4313607635469878 0.2106130197286727 0.8331892519204982 1.0 1.0 3 Q92734 1 |
| Abnormal connection of the cardiac segments 0.2707524305647931 0.2084607600434041 0.8348692185256323 1.0 1.0 58 Q9UHX1,Q15056,P98175,O95155,O60826,O15287,Q8N3U4,P02545,O00192,Q6PGP7,O75844,Q9UIG0 12 |
| Abnormal aortic arch morphology 0.3276706107696633 0.2076774027810832 0.8354808629558064 1.0 1.0 12 O00192,Q9UHX1 2 |
| Nasogastric tube feeding 0.293303427828136 0.2072050583049298 0.8358497170835626 1.0 1.0 29 Q96N66,Q14139,P55011,Q15233,Q71SY5,Q9UBB6,Q9Y448,Q9NUQ7,Q9GZY8 9 |
| Gastric ulcer 0.4292433915461834 0.2061516560715901 0.8366724495351325 1.0 1.0 3 P04062 1 |
| Cerebral cortical atrophy 0.272640732510397 0.2056634169275146 0.8370538366909552 1.0 1.0 112 O96008,Q8TD16,Q96N67,Q5KU26,Q8N3R9,O75503,P05067,Q16625,Q9NXR1,Q9BUB7,Q96RR1,O14936,P03886,O00754,P00403,P55011,O95155,Q15056,P00846,Q9H9S5,Q9NWS8,Q9UQE7,Q9UIG0 23 |
| Renal cell carcinoma 0.2983453838701123 0.2033400556289173 0.8388692495719803 1.0 1.0 23 O60566,Q9NWH9,P35222,Q15437,P02545,P31749 6 |
| Abnormality of the epiphyses of the distal phalanx of finger 0.3839604504257022 0.2018349856151435 0.8400457297996542 1.0 1.0 2 P82673 1 |
| Atresia of the external auditory canal 0.3141941386860961 0.198602496022242 0.8425737009634293 1.0 1.0 15 Q9UQE7,Q9H9S5,O75419 3 |
| Smooth philtrum 0.2673089577052464 0.1977725667318836 0.8432230107785135 1.0 1.0 74 Q9UQE7,P55011,Q9UHX1,O15344,Q8WVQ1,Q9Y487,Q01082,Q8N3R9,P10586,P11274,P29372,O14936 12 |
| Dystrophic fingernails 0.3418977537042984 0.1972836315198669 0.8436055877833142 1.0 1.0 8 O75844 1 |
| Convex nasal ridge 0.2967144905573017 0.1965566868252275 0.8441744682027565 1.0 1.0 21 O96028,O75844 2 |
| Neurofibromas 0.3700740402533696 0.1962869104236302 0.8443856060778665 1.0 1.0 6 Q01082,P31749 2 |
| Focal onset seizure 0.2725897047774462 0.1951721303039723 0.8452581962844217 1.0 1.0 90 Q05639,Q01105,Q96N67,Q71SY5,O75503,P11166,Q9UBX3,P22466,Q6ZXV5,Q96L73,P03886,P00403,O14936,P55011,P07602,Q9UBB6,Q9Y3C6,P31749,Q96N66,Q14139,Q6PJT7,Q01082,P42356,Q9NUQ7 24 |
| Progressive inability to walk 0.296563682531978 0.194658277928103 0.8456604764141653 1.0 1.0 24 Q96RR1,Q9H9S5,P00846 3 |
| Abnormal patella morphology 0.2871585415948944 0.1941528135709538 0.8460562290681235 1.0 1.0 31 Q15056,Q8WVQ1,Q9NX62,Q6ZXV5,O00192,Q9UIG0 6 |
| Visual field defect 0.2673925676142096 0.1938470157141579 0.8462956719609533 1.0 1.0 51 P03886,O60313,O43395,Q15555,Q8WWY3,P54277,P00846,P35222,O75306,Q9H6K4,Q8NHS3,P04439,Q9H061,P31749,P00403 15 |
| Abnormality of the pulmonary vasculature 0.2724003336443403 0.1938051313492293 0.8463284689587012 1.0 1.0 46 P55011,Q15056,Q15392,O75718,P02545,Q8N3R9,P51798,Q6PGP7,O75175,Q9UIG0 10 |
| Abnormal circulating proline concentration 0.408154312135513 0.1931482387286755 0.846842874827725 1.0 1.0 4 P20674,Q9P0J1 2 |
| Lipid accumulation in hepatocytes 0.2667561723531094 0.1924424232023241 0.8473956644596852 1.0 1.0 74 P55263,O95155,P49748,P23786,O43772,O75787,Q7LG56,P02545,Q03252,Q01082,P31751,P39210,O75431,Q7KZN9 14 |
| Abnormality of retinal pigmentation 0.2718196773751599 0.1915051520701777 0.848129844471949 1.0 1.0 88 P02545,Q7KZN9,Q13432,Q96JJ3,O75251,Q6P4Q7,Q8NHS3,Q13049,P00403,P03886,O15078,P00846,Q7LG56,P52732,Q9H9S5,Q96CU9,P31749,Q15051,Q15555,O75306,Q96RK4 21 |
| Abnormal heart valve physiology 0.2727995251006773 0.1902613060518866 0.8491043730728254 1.0 1.0 95 P55263,P02545,P06280,P16278,O60566,Q9UHX1,Q96L58,Q6ZXV5,P00813,Q6PGP7,O00754,Q15056,O75431,P09493,P11274,Q9UQE7,Q9NZ08,O75306,Q01082,O60826,O75844,Q9UIG0 22 |
| Embryonal renal neoplasm 0.3214681303179689 0.1895607206274375 0.8496533694471329 1.0 1.0 13 Q96L73,O60566,P51809 3 |
| Nephritis 0.295328860593556 0.1881350573807928 0.8507707799359192 1.0 1.0 23 P35579,Q03252,O43707 3 |
| Respiratory insufficiency 0.2752309731459867 0.1879872056528875 0.850886680786008 1.0 1.0 196 Q7RTS9,Q8TD16,O43772,P02545,P06753,P10253,P06280,Q9NR77,Q70HW3,Q8WVQ1,P49748,Q96L58,O43676,Q14203,O95831,O75251,Q14739,Q96RR1,P03886,P07602,P23786,Q9Y448,Q9H9S5,Q96CU9,Q68CQ7,P61916,Q15165,O75380,Q8NFF5 29 |
| Aspiration 0.322247013836099 0.1856523388158819 0.8527174065395329 1.0 1.0 10 O15344,Q9H2P0,P43243,P42356,P29372 5 |
| Delirium 0.3765449052458044 0.1855829437455821 0.8527718301200118 1.0 1.0 2 Q9UJS0 1 |
| Gingival bleeding 0.3201206309325056 0.184637227621982 0.8535135845138122 1.0 1.0 13 Q14108,Q96JJ3,Q02241,P49257,P04062 5 |
| Increased susceptibility to fractures 0.267729154675724 0.1838869456474185 0.8541021460398 1.0 1.0 57 Q14108,Q96L58,O75718,Q14739,P06753,Q13126,P39210,P48735 8 |
| Difficulty climbing stairs 0.2920865645652388 0.1819777622915424 0.8556001776189661 1.0 1.0 18 Q96RR1,P06753,Q9H9S5 3 |
| Facial shape deformation 0.4027058075226689 0.1818489742770324 0.8557012493187872 1.0 1.0 4 O75431 1 |
| Disinhibition 0.2675758286443944 0.1815596792000892 0.855928294176155 1.0 1.0 59 Q05639,Q96N66,Q14139,P55011,P17480,Q15233,O96008,Q6PJT7,Q9NUQ7,Q14203,Q71SY5,Q9UBB6,Q96F07,Q93009,Q01082,P04062,P23378,P05067 18 |
| Hepatoblastoma 0.3207906987665934 0.1809816640008794 0.8563819683539047 1.0 1.0 10 Q12824,P51532,Q8TAQ2,Q6PGP7 4 |
| Alkalosis 0.3829026937877837 0.1805951587784751 0.8566853561360968 1.0 1.0 5 P01889,Q9Y619,P40818,O00170 4 |
| Abnormal location of ears 0.2981489170629025 0.1801303628224462 0.8570502263751572 1.0 1.0 265 P98175,Q4J6C6,Q9HC07,Q8WVM7,O75419,Q71SY5,Q8N201,P02545,P06753,Q9Y366,Q9UBM7,O00192,Q96EK5,Q16625,P16278,O60566,Q9UHX1,Q8WVQ1,Q8NCH0,Q8N0X7,Q96L58,Q9Y487,Q15392,O75787,O95831,P15586,Q13868,Q14739,P42892,Q9BUB7,Q6PGP7,Q969N2,Q13049,Q9Y3D3,P55011,O95155,Q15056,O15078,P23786,Q8WXW3,O43505,Q9H9S5,O75530,O96028,Q9UQE7,Q15555,Q13555,P46783,Q8NAT1,Q93009,Q96RK4,O60826,O75844,Q9NUN5,Q9UIG0 55 |
| Chronic kidney disease 0.2766996943517441 0.1798503546180748 0.8572700508274373 1.0 1.0 38 Q15051,O15078,P23786,O43707,Q8N1F7,P50336 6 |
| Spastic tetraplegia 0.2702846395786877 0.1784315142809855 0.8583841015839984 1.0 1.0 46 P16278,Q86XL3,P04066,Q15046,Q01082,Q9NXR1,O43681,Q13813,Q9Y3C6,Q9UEY8,P49792 11 |
| Abnormal cerebellar vermis morphology 0.2702097156727231 0.177604364054934 0.8590336970159711 1.0 1.0 87 Q15051,P07942,O60826,P98175,O15078,P23786,Q9Y487,Q9UBM7,Q8WXW3,O43505,Q8NAT1,Q8N201,P15291,Q9H9S5,Q9HC21 15 |
| Increased hepatic glycogen content 0.4005749199513101 0.1775422843431994 0.8590824546478659 1.0 1.0 4 P31040,P31751 2 |
| Pancreatic cysts 0.3422132615881463 0.1766833478904608 0.8597571215453264 1.0 1.0 7 O15078 1 |
| Spontaneous hematomas 0.414010989010991 0.1758253225246706 0.860431175045721 1.0 1.0 3 P17301,Q6YHK3 2 |
| Male infertility 0.3612867748144155 0.175485337256931 0.8606982911821484 1.0 1.0 6 Q02750,P51809,Q8IY37,Q06124,P54132 5 |
| Long fingers 0.2684582652463549 0.1753541744926425 0.860801346058734 1.0 1.0 82 Q15555,Q9UHX1,O00192,P23786,Q96L58,Q03252,Q96EK5,P42892,O75530,O96028,P11274 11 |
| Widely spaced incisors 0.3804252026608405 0.1752645354126958 0.8608717770474597 1.0 1.0 5 Q8WVM7 1 |
| Uterus didelphys 0.4134615384615404 0.1747899614421392 0.8612446765178345 1.0 1.0 3 Q8NCM8,O14974 2 |
| Horizontal ribs 0.4134615384615403 0.1747899614421389 0.8612446765178348 1.0 1.0 3 Q8NCM8,O75147 2 |
| Primary gonadal insufficiency 0.3336292335268791 0.1746281798928617 0.8613718044577909 1.0 1.0 8 Q8IY37,P49770,P51809 3 |
| Abnormality of hindbrain morphology 0.3069625535575886 0.1745290828402324 0.8614496766948427 1.0 1.0 302 Q99720,P07942,Q14108,P98175,Q9HD42,Q9UIG0,Q8TD16,Q96N67,O75419,Q8N201,O14773,O75503,Q9HC21,Q9UBM7,Q16625,O60313,O60566,Q8N0X7,Q9Y487,P80404,O75787,Q13868,Q8NHS3,Q9NXR1,Q9H6K4,Q96RR1,Q969N2,Q5H8A4,Q13813,Q6DKK2,O14936,P20700,O00754,Q15056,Q8IV08,Q15233,O15078,P23786,Q8WXW3,P00846,O43505,Q7LG56,Q9Y4W6,Q96F07,P11177,Q9H9S5,P51798,O96028,Q9BX67,P41440,Q96CU9,P17480,P31749,Q9Y3C6,P55795,Q15051,Q9UQE7,Q9NQT5,Q15437,P25705,Q8NAT1,P15291,O60826,Q9GZY8 64 |
| Abnormality of skin pigmentation 0.2529942978604219 0.1740380960027959 0.8618355227899492 1.0 1.0 142 Q8IZA0,P02545,Q8N3R9,O00192,O60566,O95714,P16615,Q14739,Q6PGP7,P50336,Q96L73,P03886,P00403,P55011,P07602,Q9Y2U8,Q9Y448,O75431,P51798,O75530,O15287,P04062,P31749,Q15555,Q13423,Q15437,Q86YV9,Q01082,O75844,O75175 30 |
| Gait disturbance 0.3155120713601381 0.1736975397392824 0.8621031711376568 1.0 1.0 352 Q13045,Q99720,Q7RTS9,Q8N201,O75503,Q9HC21,P05067,Q9NR77,O60313,Q9BQT8,O95831,Q9H6K4,Q5H8A4,P00403,P03886,P07602,Q8IV08,Q15046,P00846,Q9Y4W6,O75530,P41440,Q96CU9,P17480,P31749,P49792,P55795,Q5TAQ9,O43681,O75175,P07196,P49770,Q05639,Q9GZY8,P98175,Q4J6C6,Q8N3U4,Q71SY5,Q8N3R9,Q9P0J1,Q9Y619,Q00796,P16278,Q5THJ4,O00400,O95714,Q10713,Q13049,Q03252,Q9NZ08,O75844,Q14108,O15118,Q8TD16,P02545,P39210,P11166,O75787,Q9BPX6,Q96RR1,P20700,O95155,Q96F07,Q9H9S5,Q96N66,O75569,Q01082,Q96N67,P06753,O75298,O14773,Q8WVQ1,Q8N0X7,Q14203,O14936,O00754,P55011,Q15056,Q8WXW3,Q7LG56,Q93009,Q9NUQ7,Q9UIG0 83 |
| Restlessness 0.2746254681472907 0.1727674637994944 0.8628342125436261 1.0 1.0 40 Q68CQ7,Q15165,P52732,Q01082,P42892,P05067 6 |
| Rotary nystagmus 0.3979872898281424 0.1723979150261809 0.8631247112082063 1.0 1.0 4 Q14738 1 |
| Communicating hydrocephalus 0.379000765270221 0.172241304712842 0.863247826624792 1.0 1.0 5 P11166 1 |
| Hyperacusis 0.3256273320839994 0.1717486414216326 0.8636351436187484 1.0 1.0 9 Q15056,Q9UIG0 2 |
| Abnormality of the diencephalon 0.2744635808355749 0.1717032475683368 0.8636708325450553 1.0 1.0 40 P11166,Q15056,Q9UPT5,P31749,Q96KP1,Q8N3U4,P35222,P49792,O75306,Q9H9S5,Q9NXR1,P19022,Q96RR1,O00443,Q9GZY8,Q14683,Q9UIG0 17 |
| Hyperaldosteronism 0.369404009887385 0.1708312487607428 0.8643564572755331 1.0 1.0 2 P04637 1 |
| Abnormality of the liver 0.3132806216984208 0.1694611435865627 0.8654339332160235 1.0 1.0 338 P22830,P55263,Q14108,O15118,Q9HC07,O43772,P14174,Q71SY5,P02545,P10253,P39210,P54802,O00192,Q9UBM7,Q7KZN9,P16278,P11717,P11166,P49748,P28070,O43676,O75787,P15586,O75251,Q14739,P00813,Q96RR1,Q9BUB7,P10619,Q13049,P50336,O14936,P03886,O00754,O95155,P07602,O15078,Q15056,P23786,P00846,Q7LG56,Q03252,P08236,O75431,P51798,O96028,Q9BX67,Q96CU9,Q9NWS8,Q15051,Q96RK4,P04066,P61916,Q9NWH9,O75306,Q15437,Q01082,P31751,O43681,Q96HY6,O75380,Q9NUN5 62 |
| Renal tubular dysfunction 0.2637527837778856 0.1691853763744424 0.8656508319403817 1.0 1.0 50 P03886,O43676,Q7LG56,O75306,O75251,Q9BRT2,O75380,Q96CU9,Q9NWS8 9 |
| Embryonal neoplasm 0.2902401917461768 0.1682676985294827 0.8663726843424011 1.0 1.0 26 Q12824,P20585,O60566,P51809,P51532,Q8IY37,Q8TAQ2,Q6PGP7,Q96L73 9 |
| Increased vertebral height 0.3940126245192032 0.1646792417489819 0.8691964565729617 1.0 1.0 4 O00754 1 |
| Recurrent skin infections 0.2881901466662946 0.1641257710858469 0.8696321345088154 1.0 1.0 18 P78536,Q9Y448,Q8NCH0 3 |
| Broad finger 0.272624105197006 0.163624612207012 0.8700266680947801 1.0 1.0 41 Q9UHX1,Q96L58,Q13868,Q9Y448,Q8N3R9,O75530,O14936 7 |
| Plagiocephaly 0.2743793689063425 0.1629272229121604 0.8705757364262183 1.0 1.0 37 Q9UQE7,Q01105,Q15233,O95714,Q96L58,Q10713,Q96F07,Q93009,Q01082,Q14738,P55265,O75175,O14936 13 |
| Acute encephalopathy 0.3555198290219783 0.1625093900059612 0.8709047344102934 1.0 1.0 6 Q9Y6N5,P49792 2 |
| Hyperkalemia 0.3551199554941753 0.1616297369665438 0.8715974384941632 1.0 1.0 6 P11166 1 |
| Encephalopathy 0.2672355568724158 0.1605314798366034 0.87246242585245 1.0 1.0 117 P03886,P11166,Q9Y6N5,P07602,P23786,O43676,O43772,Q8WVM7,O75251,P25705,Q96F07,Q96N67,Q5KU26,Q13813,O75380,Q96RR1,Q7KZN9,Q96CU9 18 |
| Facial erythema 0.4054945054945075 0.1602390359255225 0.8726927804429854 1.0 1.0 3 P40818,O00170 2 |
| Macular degeneration 0.3127586884365001 0.158488316726033 0.8740720262137975 1.0 1.0 13 Q8WWY3,P04439,P50897 3 |
| Anosmia 0.3721825178669667 0.1581936561971153 0.8743042024342187 1.0 1.0 5 Q8WWQ0,Q9P2D1,Q9NQ48,O95140 4 |
| Abnormal hypothalamus physiology 0.3271198517263043 0.1577001207801004 0.8746931053159026 1.0 1.0 8 Q14683,Q8N3U4,P31749 3 |
| Colitis 0.3135407535120941 0.1576802230181968 0.8747087852656563 1.0 1.0 11 Q13043,P42224,P49748,Q6PGP7 4 |
| Peripheral neuropathy 0.2677591476088988 0.1572012557422261 0.8750862386676013 1.0 1.0 183 P39210,P54802,Q7KZN9,Q9NR77,Q7Z406,O95831,O75251,Q9BPX6,Q96RR1,P03886,P07602,Q8IV08,P00846,P41440,Q9Y2R0,Q96CU9,P04066,O43681,P07196,Q9GZY8 20 |
| Increased blood pressure 0.2672777299912605 0.1570627949452858 0.8751953589345924 1.0 1.0 84 P03886,Q15051,Q15056,O15078,Q9BUB7,O43707,P02545,P42892,Q96RK4,O00192,Q9NQH7,O75844,Q13049,P06280,P50336 15 |
| Abnormality of upper limb metaphysis 0.4035714285714304 0.1568564492442687 0.8753579833605007 1.0 1.0 3 Q15910,Q9H1A4 2 |
| Abnormality of the 1st metacarpal 0.3201471319888461 0.1562839795195404 0.8758091836624866 1.0 1.0 9 Q9UQE7,Q8WVQ1 2 |
| Patellar subluxation 0.3617138148860152 0.1559349387776978 0.8760843049965066 1.0 1.0 2 P25490 1 |
| Dermatological manifestations of systemic disorders 0.2652777241486684 0.1558284631374896 0.8761682343422748 1.0 1.0 79 A2RRP1,P11166,P04066,P98175,O15118,P61916,P49748,O43772,Q15437,O75787,P02545,Q01082,Q14739,P39210,O75844,Q16625,O14936 17 |
| Abnormal cardiac atrium morphology 0.2583805447437829 0.1551730614745693 0.8766848848574849 1.0 1.0 162 P55263,P98175,O75419,Q71SY5,P02545,O00192,Q9UBM7,P13807,O60566,Q8NCH0,P49748,Q96L58,O14678,P42892,Q6PGP7,Q969N2,Q5H8A4,P22695,P20700,Q15056,Q15233,O15078,P52732,O75431,O15287,O96028,P11274,Q9UQE7,P46783,O60826,O75844,Q9UIG0 32 |
| Interrupted aortic arch 0.3887876729349059 0.154871609376498 0.8769225359989685 1.0 1.0 4 Q8WYQ5 1 |
| Tall stature 0.2640457805233521 0.1543240827187175 0.8773542095089923 1.0 1.0 63 O00754,P55011,Q8NCH0,Q15233,Q13423,P80404,P06753,Q8N3R9,O75530,O96028,Q5H8A4,Q13049,O75175,P31749,Q96L73 15 |
| Progressive spasticity 0.2977992564553465 0.1540553740485333 0.8775660744901623 1.0 1.0 16 P07602 1 |
| Cleft upper lip 0.2732449013557261 0.1537564672213001 0.877801759695219 1.0 1.0 35 Q13045,O15344,Q96L58,Q9H9S5,O96028,Q5H8A4,P29372 7 |
| Dyspnea 0.2690008381271209 0.1527941993563583 0.8785605722652352 1.0 1.0 107 P03886,Q9UHX1,P07602,Q68CQ7,P23786,Q96L58,P00846,Q15165,O95831,P02545,P10253,Q9Y366,Q96RR1,O75844,P06280 15 |
| Infertility 0.3104683195592339 0.1506174606838149 0.880277486894687 1.0 1.0 13 Q02750,Q9H7N4,P51809,O95714,Q8WWQ0,P40818,Q96RD7,Q15645,Q8IY37,Q86Y56,Q06124,P54132 12 |
| Absent distal phalanges 0.3586926668497625 0.1503637633283268 0.8804776288668155 1.0 1.0 2 O15111 1 |
| Apnea 0.2688416610223549 0.1501633484749048 0.8806357416447721 1.0 1.0 94 P98175,P51114,O43772,Q8N3U4,Q7KZN9,P11166,O60313,O60566,O95714,Q14203,Q10713,O75251,Q969N2,Q96KP1,P03886,P07602,Q15233,O15078,P23786,Q8WXW3,P00846,P51798,P04062,Q96CU9,O75306,P25705,Q93009,P42356 28 |
| Cortical dysplasia 0.2750286427316729 0.1496588923951249 0.8810337419388015 1.0 1.0 33 Q96N66,Q14139,P55011,O43505,Q71SY5,Q9UBB6,Q9NUQ7 7 |
| Hypoplasia of teeth 0.2863401192407534 0.1495358973720126 0.881130785780097 1.0 1.0 20 P02545,O75844,O75431 3 |
| Joint dislocation 0.2691661637721088 0.149464466594328 0.8811871459291347 1.0 1.0 100 Q8TD16,Q8N3U4,O75419,P02545,P06753,O00192,Q9UBM7,Q9UHX1,Q8NCH0,Q8WVQ1,Q96L58,Q9Y487,Q6ZXV5,P55011,Q15056,Q9H9S5,P51798,O15287,O96028,P31749,Q9UQE7,Q9NX62,Q9NQT5,O75844,Q9UIG0 25 |
| Aspiration pneumonia 0.2841678233743394 0.1492686355098709 0.8813416632093547 1.0 1.0 28 Q12824,P16278,P20700,Q4G0N4,P51532,Q8N3U4,P06753,Q9Y448,Q92734,Q8TAQ2,P04062,Q14683 12 |
| Gonosomal inheritance 0.2610184162447356 0.1484230572865553 0.882008904513963 1.0 1.0 72 P55795,P26038,O15344,P98175,Q15233,O14936,Q8IWS0,O75787,O95831,O75027,O60826,O95239,P06280,P29372 14 |
| Ovotestis 0.3575940675638517 0.1483771063973171 0.8820451665210354 1.0 1.0 2 P53701 1 |
| Glioma 0.3055706263237377 0.1472506986140675 0.8829341449901322 1.0 1.0 14 P20585,P48735,Q96L73 3 |
| Neoplasm of the small intestine 0.3293286514802587 0.1458505780200643 0.8840393472890073 1.0 1.0 7 P02545 1 |
| Paraplegia 0.2629851036847547 0.1453435771064981 0.8844396104318293 1.0 1.0 63 P11166,P07942,O00754,Q8N0X7,Q96L58,P00846,O75306,O95831,O75251,O75298,Q7KZN9,Q96CU9 12 |
| Abnormal circulating sex hormone concentration 0.2861329061981597 0.14465021640656 0.8849870471829901 1.0 1.0 22 Q13423,P51809,P49770,P57740,Q8IY37,P31749 6 |
| Respiratory failure 0.2604710413695312 0.1437218917157114 0.8857200835811452 1.0 1.0 70 Q70HW3,P07602,Q68CQ7,P61916,P23786,Q8TD16,O75306,Q14203,Q15165,P06753,Q9H9S5,P10253,Q9BUB7 13 |
| Dyscalculia 0.3089893767261799 0.1435050179147085 0.8858913485453261 1.0 1.0 11 Q06787,Q96L73,P35637,P22626 4 |
| Abnormality of the ulna 0.2703608275303035 0.1421837025882972 0.8869349044500368 1.0 1.0 39 Q9UQE7,Q15056,Q8WVQ1,Q96L58,O96028,Q969N2,Q9UIG0 7 |
| Upper extremity joint dislocation 0.2852072654625646 0.1420997960216808 0.8870011792932326 1.0 1.0 21 Q9UQE7,Q8WVQ1,Q96L58,O75419,Q6ZXV5 5 |
| Central sleep apnea 0.3275874553887039 0.141915007406116 0.8871471401013491 1.0 1.0 7 Q969N2 1 |
| Abnormal thumb morphology 0.2606345474535824 0.1416134090132331 0.8873853748212523 1.0 1.0 128 Q86XL3,Q71SY5,Q8N3R9,Q9UBM7,Q9UHX1,Q8NCH0,Q8WVQ1,Q8N0X7,Q96L58,Q13868,Q9H6K4,P42892,Q5H8A4,P55011,Q15056,Q15233,O15078,Q03252,Q9Y448,O75530,O96028,Q9UQE7,P46783,Q9UIG0 24 |
| Depressed nasal ridge 0.2856947499179478 0.141407400689441 0.887548108114508 1.0 1.0 25 P16278,O00754,O60566,O95155,O15078,Q6PGP7,O75175 7 |
| Decreased pulmonary function 0.3635285827471974 0.1413803273125277 0.8875694946892836 1.0 1.0 5 P08236,P31749 2 |
| Retinal degeneration 0.2617847608054057 0.1408911831035006 0.8879559075320929 1.0 1.0 66 Q05639,P02545,O14773,Q8N3R9,O75503,O60313,Q10713,O00754,P55011,P50897,Q96F07,Q9H9S5,P04439,P04062,Q9NWW5,O43172,Q8WWY3,Q96RK4,O75175 19 |
| Decreased proportion of cd4 positive helper t cells 0.320025341838199 0.140181715052241 0.8885164185197796 1.0 1.0 8 Q9Y448 1 |
| Breast hypoplasia 0.3620120945574588 0.138551731471925 0.889804388008306 1.0 1.0 5 Q8WWQ0,Q9P2D1,P25490,Q9Y619 4 |
| Abnormal ureter morphology 0.2790213015349126 0.1382481007820926 0.8900443411117693 1.0 1.0 30 O15078,P23786,O75844,P02545,Q969N2,O14936 6 |
| Abnormal morphology of the limbic system 0.3065085254529493 0.1359807520265837 0.8918364972724797 1.0 1.0 11 Q05639,Q01105,Q96JM3,Q00610,Q9NXR1 5 |
| Abnormal vertebral segmentation and fusion 0.3504531722054337 0.1359720346544586 0.891843388723689 1.0 1.0 2 Q8TAA9 1 |
| Hallux valgus 0.2841542980500851 0.1355606882788017 0.8921685847019767 1.0 1.0 22 Q15056,Q15233,Q96L58,Q93009,P04062,P31749,Q9UIG0 7 |
| Abnormal foveal morphology 0.3775924893045068 0.1351597510552603 0.8924855690227989 1.0 1.0 4 Q86YV9 1 |
| Abnormal respiratory system morphology 0.3104353463322679 0.1344646723775913 0.8930351447117284 1.0 1.0 334 Q13045,Q14108,O15344,P98175,P26038,Q7RTS9,Q8IZA0,P14174,Q71SY5,P02545,P06753,O75419,P10253,Q8N3R9,P54802,O00192,Q9UBM7,Q92888,P06280,P16278,Q13432,O60566,Q9UHX1,Q8NCH0,P49748,Q96L58,Q9Y487,P28070,P02786,Q15392,O75718,P15586,Q14203,Q14739,Q9NXR1,P00813,Q6PGP7,Q969N2,P29372,P20700,O00754,P55011,P07602,Q15056,P52732,O43707,Q9Y448,P08236,P51798,Q8N1F7,O96028,P11274,P04066,Q68CQ7,Q9NZ08,Q15165,Q86YV9,P25705,Q01082,Q96HY6,O60826,O75844,Q9UIG0 63 |
| Abnormal facial expression 0.2685278546927951 0.1335435437573554 0.893763529702186 1.0 1.0 40 Q9NR77,O75787,Q14203,Q7LG56,P06753,Q9Y448,Q9H9S5,Q96RR1,Q13049 9 |
| Abnormal macroscopic urine appearance 0.2816568809079131 0.1316880487482971 0.8952310389044713 1.0 1.0 19 P23786,O43707 2 |
| Constipation 0.2674188106868579 0.1316196825976755 0.8952851165073441 1.0 1.0 103 Q71SY5,O00192,Q9UBM7,Q8NCH0,Q8N0X7,P42892,Q96RR1,P50336,P03886,P20700,P55011,O95155,Q15056,Q7LG56,Q03252,Q13423,Q01082,Q93009,Q9UIG0 19 |
| Decreased circulating androgen concentration 0.3041126078636101 0.1288513260478983 0.8974752916861444 1.0 1.0 11 Q8IY37,P31749,P51809 3 |
| Asymmetric growth 0.304211167223233 0.1286393309744906 0.8976430432337483 1.0 1.0 12 P31751,Q15555,O95155 3 |
| Neuropathic arthropathy 0.3726298433635843 0.1269905202681032 0.8989479015335362 1.0 1.0 4 O15269,Q6DD88,O95163 3 |
| Distal sensory loss of all modalities 0.3726298433635802 0.1269905202680968 0.8989479015335413 1.0 1.0 4 P48643,P19367,O15269 3 |
| Abnormality of mouth size 0.2563419814730656 0.1261448670900882 0.8996172523071371 1.0 1.0 133 Q01105,Q8WVM7,O75419,P02545,Q8N3R9,O00192,Q9UBM7,P16278,P11166,Q8NCH0,Q8WVQ1,Q9Y487,Q15392,P15586,Q9BUB7,Q6PGP7,P55011,O95155,Q15046,Q15233,Q15056,O75431,P11274,P31749,Q15555,Q9NX62,O75844,Q9UIG0 28 |
| Abnormal internal genitalia 0.2563264107411749 0.1259451169094013 0.8997753688643484 1.0 1.0 133 Q92878,Q9UIG0,P02545,O00192,Q9UBM7,Q9Y6D9,O60566,Q96RR1,Q13049,P20585,Q15056,O15078,Q03252,O15287,O96028,P48735,P31749,Q15051,Q9UQE7,P51809,Q15437,P31751,Q16740,Q96RK4,O75844,P49770,Q01844 27 |
| Involuntary movements 0.3139475104360129 0.1254237965473671 0.9001880499463 1.0 1.0 364 Q13045,Q99720,Q01105,P27544,P51114,O96008,O75027,O75503,P05067,Q9NR77,O60313,Q9BQT8,O95831,Q9H6K4,Q9NXR1,P00403,P03886,P07602,Q15233,P50897,P00846,Q9BWD1,Q9Y4W6,Q9Y4G8,O96028,P41440,Q96CU9,P17480,P31749,O00584,O43681,P07196,Q71SY5,P06280,Q9UHX1,P32929,Q6DKK2,Q03252,Q9NWW5,Q86VD7,Q14108,Q9HD42,Q8TD16,P11166,Q9UBX3,Q7Z406,O75787,Q9BPX6,Q96RR1,Q969N2,Q13813,P20700,O95155,Q96F07,Q9Y448,Q9H9S5,P11274,Q96N66,P61916,O75569,Q01082,Q9NQH7,Q96N67,O75298,O14773,Q8N0X7,Q14203,Q9BUB7,O14936,P55011,Q15056,Q8WXW3,Q7LG56,P51798,Q9NWS8,O75306,Q9NUQ7,Q9UIG0 78 |
| Pneumonia 0.2607346556752345 0.1253219224131003 0.900268697425135 1.0 1.0 60 Q13432,P16278,P20700,O00754,P49748,Q71SY5,P06753,Q9Y448,Q9NXR1,P00813,P49792 11 |
| Impaired glucose tolerance 0.3545762390291482 0.125191633508538 0.90037184062823 1.0 1.0 5 P02545,O76024 2 |
| Abnormal activity of mitochondrial respiratory chain 0.2603737625094069 0.1237628753061324 0.9015030269759738 1.0 1.0 58 P03886,Q70HW3,Q9UBX3,O43676,Q9Y2R0,O75380,Q7KZN9,Q96CU9 8 |
| Rod cone dystrophy 0.2624047896034889 0.1232042285010469 0.9019453772222792 1.0 1.0 46 P03886,Q13868,P00846,O15078 4 |
| Coarctation of aorta 0.2678337114222906 0.1221831031342317 0.9027540079322204 1.0 1.0 36 P55263,Q9UHX1,P46783,O14678,Q9UBM7 5 |
| Craniofacial osteosclerosis 0.381460885878195 0.1215876777575318 0.9032255728035136 1.0 1.0 3 P51798 1 |
| Hereditary nonpolyposis colorectal carcinoma 0.3117806777851887 0.1210649467867377 0.9036395933222008 1.0 1.0 8 O60566,P31749 2 |
| Pes planus 0.2640518845461372 0.1195793843145281 0.9048163514575448 1.0 1.0 86 Q13045,Q7RTS9,Q8N3U4,P02545,P06753,Q9UHX1,Q8WVQ1,Q96L58,Q9Y487,O75787,Q10713,Q5H8A4,Q96L73,Q15056,Q15233,O15287,P11274,P55795,Q15555,O75175,Q9UIG0 21 |
| Abnormal t cell subset distribution 0.297223535642665 0.1184301354158852 0.9057268491848108 1.0 1.0 14 Q9Y448,O75787 2 |
| Microtia third degree 0.3786113349745232 0.1175241168954269 0.9064447339487932 1.0 1.0 3 O75419 1 |
| Hypoplastic fifth toenail 0.3050676405522179 0.1169725201262925 0.9068818297253464 1.0 1.0 9 Q12824,P51532,Q8TAQ2,Q14738 4 |
| Back pain 0.2788413445900671 0.1167929370335856 0.9070241408774996 1.0 1.0 27 Q12824,Q8TAA9,P50402,Q8WXH0,P31749,P02545,Q01082,P51798,Q9UGP8,P50336 10 |
| Large for gestational age 0.3049241411652922 0.1166217092265268 0.907159833638722 1.0 1.0 9 Q969N2 1 |
| Aplasia hypoplasia involving the nose 0.2731375289071788 0.1164191605125814 0.9073203507517492 1.0 1.0 31 P55795,Q8N3U4,P02545,Q5KU26,P11274,O75431,O75844,Q8WYQ5 8 |
| Urinary tract neoplasm 0.2651823702041056 0.1158416773152438 0.9077780191236402 1.0 1.0 41 O60566,P54277,Q96L58,P51809,Q9NWH9,P35222,Q15437,P02545,P31749,Q96L73 10 |
| High narrow palate 0.2655195378575803 0.1106427676258421 0.91189963200831 1.0 1.0 38 Q15233,P23786,Q969N2,O75419,Q71SY5,Q01082,P06753,O60826,Q9Y619,P11274 10 |
| Macular purpura 0.2767008523437256 0.1105800518431518 0.9119493667809282 1.0 1.0 19 Q6UN15,Q8NCH0,P38435,P17301,P40818,Q14980,P40763,Q9BZK7,P51798,P04062,Q16625 11 |
| Abnormal pons morphology 0.2789552551566726 0.1098092598530899 0.912560647158234 1.0 1.0 25 Q9H9S5,O15078,Q96N67,O14936 4 |
| Trophic changes related to pain 0.3725274725274747 0.1092112952151128 0.913034901612298 1.0 1.0 3 O15269,Q6DD88 2 |
| Penetrating foot ulcers 0.3725274725274747 0.1092112952151128 0.913034901612298 1.0 1.0 3 O15269,Q6DD88 2 |
| Emg slow motor conduction 0.3725274725274747 0.1092112952151128 0.913034901612298 1.0 1.0 3 O15269,Q6DD88 2 |
| Abnormality of the inner ear 0.2969346232416857 0.1083110268730246 0.9137489758959588 1.0 1.0 11 Q15046,P31749 2 |
| Long palpebral fissure 0.2785544073419188 0.1082287384395635 0.9138142488662888 1.0 1.0 24 P20700,Q13555,Q01082 3 |
| Arnold chiari malformation 0.2769080422180039 0.1075591922032679 0.9143453690332132 1.0 1.0 27 O00754,Q9UNW9,Q8TAA9,Q15056,Q15233,Q9Y2U8,O75419,Q9BZK7,Q14839,Q9UIG0 10 |
| Abnormality of the urethra 0.2469024557958927 0.1068082850143177 0.9149410745872026 1.0 1.0 145 O15344,O75419,Q71SY5,P02545,O00192,Q9UBM7,Q96EK5,O60566,Q9UHX1,Q9UBX3,O75787,Q9BUB7,Q6PGP7,Q5H8A4,P29372,O95155,Q15046,O15078,Q15056,O96028,Q9UQE7,Q15555,P51809,P46783,Q01082,O60826,O75844,Q9UIG0 28 |
| Abnormality of the nasal bone 0.3588898048914749 0.1061851397632354 0.9154354610357648 1.0 1.0 4 P10644,P35222,O14974 3 |
| Hypoplastic female external genitalia 0.28511199549689 0.1056309775389214 0.9158751457202372 1.0 1.0 16 Q9UQE7,O95714,O75419,Q9Y619,Q15042 5 |
| Corneal scarring 0.3697802197802218 0.1056182600208851 0.9158852363856832 1.0 1.0 3 P09884,Q86XI2 2 |
| Plantar hyperkeratosis 0.2649380344384625 0.1054541652793433 0.9160154379381626 1.0 1.0 36 P16615,O75431,Q15437,P09493 4 |
| Immunologic hypersensitivity 0.264670223025772 0.1043406010054012 0.9168990587928632 1.0 1.0 34 O00192,Q01082,P00813,Q9NZ08 4 |
| Vertebral compression fracture 0.2742226758886398 0.104132037617055 0.9170645667141296 1.0 1.0 18 Q14108,O75718 2 |
| Persistent head lag 0.3090468196538961 0.1034809671896089 0.9175812543752008 1.0 1.0 7 Q01082 1 |
| Congenital nystagmus 0.2762848936254395 0.1029264619011007 0.9180213356720948 1.0 1.0 21 P00846 1 |
| Synovitis 0.3673076923076942 0.1024692729208639 0.9183842010993312 1.0 1.0 3 O14802,Q06124 2 |
| Abnormality of neuronal migration 0.2563304432776787 0.1008816766004565 0.9196443888477625 1.0 1.0 166 Q86XL3,Q01105,P07942,Q8TD16,Q71SY5,Q5KU26,Q9UBM7,Q9HC21,Q96EK5,Q16625,Q9Y487,Q15392,Q6ZXV5,O14936,P20700,P55011,O15078,P23786,Q8WXW3,O43505,P52732,Q03252,P11177,Q9H9S5,Q9Y3C6,Q9NWS8,Q15051,Q96N66,P35606,Q9NUQ7,Q8NAT1,Q9BSJ2,O60826,Q9UEY8 34 |
| Glomerulonephritis 0.2742726182479751 0.1005466243145089 0.9199103694998904 1.0 1.0 19 Q03252,O43707 2 |
| Carpal synostosis 0.3017881705639748 0.0997085396902625 0.9205757206396528 1.0 1.0 8 Q96L58,O75367,O75369,Q6DKJ4,Q9Y5S9,P21333,P16435 7 |
| Synostosis of carpals tarsals 0.3017881705639748 0.0997085396902625 0.9205757206396528 1.0 1.0 8 Q96L58,O75367,O75369,Q6DKJ4,Q9Y5S9,P21333,P16435 7 |
| Decreased circulating igg level 0.2913024207153946 0.0991175785513099 0.9210449151493492 1.0 1.0 14 P00813 1 |
| Bladder neoplasm 0.3008056665934895 0.0977165644774848 0.922157361955524 1.0 1.0 8 O60566,P31749 2 |
| Vomiting 0.2641990848841067 0.0975907069030905 0.9222573040972776 1.0 1.0 102 P39210,Q9UBM7,P06280,A2RRP1,P49748,O43676,O75251,P50336,P00403,P03886,P22695,Q15046,P07602,P23786,P00846,Q7LG56,Q96CU9,Q13423,Q9NWH9,O75306,Q01082,P11117,O75380 23 |
| Pointed chin 0.2634488607252568 0.0974809532009166 0.9223444593299206 1.0 1.0 37 P20700,O95155,Q15056,P52732,Q01082,P11274,Q96EK5 7 |
| Abnormality of circulating fibrinogen 0.3006877579092293 0.0974788103969167 0.9223461609363024 1.0 1.0 8 Q6UN15,P10644,Q14980,P40763,P06748,Q9BZK7,P23526 7 |
| Short thumb 0.2610193780278075 0.097475097752628 0.9223491091578936 1.0 1.0 43 Q9UQE7,Q8WVQ1,P46783,Q03252,Q9Y448,O96028,Q9UBM7 7 |
| Abnormality of the choanae 0.2629252254771696 0.0969960180382069 0.9227295566851216 1.0 1.0 39 Q9UQE7,P55011,O15287,O75419,P02545,O00192,Q9UBM7,O75844,P11274 9 |
| Spina bifida 0.2628997225255107 0.0968458936781494 0.9228487773172812 1.0 1.0 39 Q9UHX1,Q15056,O15078,O15287,Q9H9S5,O00192,Q9HC21,Q9UIG0 8 |
| Abnormality of the nail 0.2564248037117739 0.0965038301198664 0.923120432130363 1.0 1.0 129 P02545,Q9Y366,Q96L58,Q9Y487,P16615,Q14739,P42892,O14936,P23786,P52732,O75431,O75530,O96028,P78536,P11274,P04066,Q13555,O60826,O75844 19 |
| Fatiguable weakness of proximal limb muscles 0.3517727490058311 0.0964436596412301 0.9231682183305794 1.0 1.0 4 P06753 1 |
| Delayed eruption of teeth 0.2551068196218862 0.0964314739374578 0.9231778960084962 1.0 1.0 49 Q9UQE7,Q9Y487,Q96JJ3,P02545,P51798,O75844 6 |
| Abnormal circulating proteinogenic amino acid concentration 0.2630703423004072 0.0953199653800012 0.9240606847771884 1.0 1.0 37 Q9NUN5,P41440,P55263 3 |
| Myelomeningocele 0.3506457818082014 0.0949650182573211 0.9243426126938148 1.0 1.0 4 Q96ST3,O75845,Q8TAA9 3 |
| Anteverted ears 0.3216149409502835 0.0946262273420045 0.9246117168993302 1.0 1.0 2 P27635 1 |
| Cerebellar vermis atrophy 0.2949917446340058 0.0934244686385581 0.925566352362582 1.0 1.0 9 Q96S52,P07437,P47897,Q8WVX9,Q15334,Q13620,Q10713,Q9UHD1 8 |
| Bladder diverticulum 0.2942801406712153 0.0918449363811713 0.9268212408497876 1.0 1.0 9 Q15056,Q9UIG0 2 |
| Synostosis involving bones of the upper limbs 0.2664525441233459 0.0912291604742111 0.9273105048521956 1.0 1.0 32 Q9UQE7,Q15056,Q8WVQ1,Q96L58,O96028,Q9UIG0 6 |
| Macular thickening 0.3158959624309018 0.0882238919052694 0.9296987283598794 1.0 1.0 6 Q8WWY3,P04439 2 |
| Recurrent lower respiratory tract infections 0.2705176725826565 0.0878592175434425 0.9299885708912324 1.0 1.0 29 Q71SY5,P00813 2 |
| Generalized osteoporosis 0.3438527845144034 0.0864175464308271 0.931134499073569 1.0 1.0 4 P02545 1 |
| Platybasia 0.2995049504950571 0.0861884341579926 0.931316624699242 1.0 1.0 7 Q92890,Q92766,O00192,O75369,P53992,Q04721 6 |
| Scarring 0.2653568308101722 0.0856067038258901 0.9317790691441544 1.0 1.0 32 O43395,Q8NCH0,Q15555,Q8WWY3,Q96L58,Q9NWM8,Q9Y2U8,P04439,Q92542,P50336 10 |
| Impaired distal vibration sensation 0.2867413417852342 0.0853295347532073 0.9319994118162872 1.0 1.0 10 P20700,Q96RR1 2 |
| Male hypogonadism 0.2911392405063199 0.0850053166798659 0.9322571639118448 1.0 1.0 9 P51608,P41091,Q9P2D1,Q8WWQ0,O76024,P09884,Q9H1A4,O00170 8 |
| Aplasia hypoplasia of the thyroid gland 0.3284771852666358 0.0849598104119039 0.93229334178536 1.0 1.0 5 O15160,Q13428,Q15738,O14654 4 |
| Inflammation of the large intestine 0.2832094254014913 0.0846127290956291 0.932569279006428 1.0 1.0 15 Q6PGP7,P42224,P49748,Q9Y2V7 4 |
| Abnormal macular morphology 0.2717419842669883 0.0836194252595756 0.9333590219024815 1.0 1.0 27 Q8NHS3 1 |
| Hemifacial spasm 0.3271833545170536 0.0832310124189127 0.933667853937719 1.0 1.0 5 P31749,Q10713 2 |
| Chromosomal breakage induced by ionizing radiation 0.3271833545170528 0.0832310124189116 0.93366785393772 1.0 1.0 5 Q92878,P31749 2 |
| Tricuspid valve prolapse 0.3505494505494525 0.0831966626342104 0.9336951663736428 1.0 1.0 3 Q9NX14,P53701 2 |
| Abnormality of the uterus 0.2551475176624237 0.0823550591585512 0.934364372195144 1.0 1.0 59 Q9UQE7,P20585,O60566,O15287,Q15437,Q16740,O00192,Q9UBM7,O96028 9 |
| Pulmonary hemorrhage 0.2964796479648094 0.0810573820218809 0.9353963183319453 1.0 1.0 7 Q6UN15,P10644,Q14980,P40763,P06748,Q9BZK7 6 |
| Dyskinesia 0.2567552142680214 0.0808790194336555 0.9355381653603488 1.0 1.0 78 Q05639,Q01105,Q71SY5,P11166,Q9UBX3,Q9BPX6,O14936,P03886,P55011,P00846,Q9UBB6,Q96F07,Q9Y448,P04062,Q96N66,Q14139,P54277,O75569,O75306,Q9NUQ7 20 |
| Hypoplastic fifth fingernail 0.2918844566712651 0.0805136207403452 0.9358287636198166 1.0 1.0 8 Q12824,O14497,Q969G3,P51532,Q96GM5,Q68CP9,Q8TAQ2 7 |
| Abnormal mitral valve physiology 0.2565418335543151 0.0787729339981941 0.9372132326727396 1.0 1.0 45 O00754,Q15056,Q96L58,Q9NZ08,O75306,P02545,O75431,P09493,O75844,P06280 10 |
| Anorexia 0.265654380275891 0.0783590101994834 0.9375424783561191 1.0 1.0 31 Q14108,P06280,Q9NZ08 3 |
| Hydrocele testis 0.2905911319722188 0.0781516412835524 0.9377074289680004 1.0 1.0 8 Q9UBX3,P31749 2 |
| Chorioretinal hypopigmentation 0.345054945054947 0.0776403179606004 0.9381141700662352 1.0 1.0 3 Q9Y619,Q96AX1 2 |
| Peripheral edema 0.3045866520186707 0.0764178621559652 0.939086659211908 1.0 1.0 2 O95235 1 |
| Abnormal right atrium morphology 0.3045866520186707 0.0764178621559652 0.939086659211908 1.0 1.0 2 O95235 1 |
| Pulmonary venous hypertension 0.3045866520186707 0.0764178621559652 0.939086659211908 1.0 1.0 2 O95235 1 |
| Orthopnea 0.3045866520186707 0.0764178621559652 0.939086659211908 1.0 1.0 2 O95235 1 |
| Interstitial cardiac fibrosis 0.3045866520186707 0.0764178621559652 0.939086659211908 1.0 1.0 2 O95235 1 |
| Zonular cataract 0.2863756825259586 0.0758533270263123 0.93953578946106 1.0 1.0 13 P08670 1 |
| Type ii diabetes mellitus 0.2575074608838369 0.0758151797012777 0.9395661392289144 1.0 1.0 43 P03886,O43395,Q15555,Q15056,Q8WWY3,O95714,Q9UIG0,P02545,P31751,Q9Y6M1,O43172,P00403 12 |
| Congenital malformation of the great arteries 0.2597860681128399 0.0752650475694255 0.9400038305736318 1.0 1.0 117 P98175,Q8N3U4,P02545,O00192,Q9UBM7,Q9UHX1,Q15392,Q6ZXV5,P42892,Q6PGP7,Q969N2,Q8WYQ5,Q96L73,Q9Y3D3,O95155,Q15056,Q15233,O75530,O15287,P11274,Q9UQE7,O60826,O75844,Q9UIG0 24 |
| Spastic paraplegia 0.2541205288863029 0.0746020899532017 0.940531311217274 1.0 1.0 59 P31040,P11166,P07942,O00400,O60313,O00754,Q8N0X7,P00846,O75306,O95831,Q5MNZ6,O75251,O75298,P04062,Q9Y619,Q7KZN9,Q96CU9 17 |
| Abnormality of the anus 0.2512225217999947 0.0743394930913648 0.9407402530093883 1.0 1.0 51 O95155,O15344,P49748,P16615,O75419,Q9H9S5,O00192,O60826,P29372,P78536 10 |
| Thoracic aortic aneurysm 0.258912581106076 0.0737999866783336 0.9411695376272002 1.0 1.0 39 P55011,O95155,Q15056,Q96L58,P02545,P06753,Q8N3R9,O75844 8 |
| Abnormal tracheal morphology 0.2591794544259997 0.0735361081673887 0.941379511680061 1.0 1.0 37 P55011,Q15056,Q96L58,Q14739,Q96HY6,Q9UBM7,Q9UIG0 7 |
| Renovascular hypertension 0.2879041500158878 0.0733508449302177 0.9415269322307324 1.0 1.0 8 Q15056,Q9UIG0 2 |
| Abnormality of the abdominal organs 0.3133395041752937 0.0729749922564088 0.941826017728074 1.0 1.0 395 P22830,P55263,Q14108,O15118,Q9HC07,O43772,P14174,Q71SY5,P02545,P10253,P39210,P54802,O00192,Q9UBM7,Q7KZN9,P16278,P11717,P11166,Q9UHX1,Q8NCH0,P49748,P28070,O43676,P53985,Q15392,O75787,O75251,P15586,Q14739,P00813,Q96RR1,Q9BUB7,P10619,Q13049,P50336,O14936,P03886,O00754,O95155,P07602,O15078,Q15056,P23786,P00846,Q7LG56,Q03252,O43707,P08236,O75431,P51798,Q8N1F7,O96028,Q9BX67,P11274,Q96CU9,Q15051,P04066,P61916,Q9NZ08,Q9NWH9,Q15437,Q01082,P31751,O43681,Q96HY6,O75380,Q9NQH7,Q9NUN5 68 |
| Abnormality of fontanelles 0.2535702560808937 0.0713383250438878 0.9431284939402644 1.0 1.0 47 P20674,Q9UQE7,Q8NCH0,P98175,Q9Y487,O75718,O75419,P02545,Q93009,Q01082,Q9NXR1,O75844 12 |
| Pituitary hypothyroidism 0.2902153557997706 0.0709664091243315 0.9434244896967364 1.0 1.0 7 P35222,P31749 2 |
| Ecchymosis 0.2749566088240165 0.0703904217777066 0.94388291465353 1.0 1.0 16 Q6UN15,Q8NCH0,P38435,P17301,P40818,Q14980,P40763,Q9BZK7,P04062,O00170 10 |
| Enlarged posterior fossa 0.2535344820359735 0.0702103609363802 0.944026227843442 1.0 1.0 59 O00754,O60826,O15078,P49748,P23786,Q9Y487,O43505,Q8NAT1,P15291,Q9H9S5,Q9UBM7 11 |
| Abnormal cartilage morphology 0.2817111509754005 0.0698930868724756 0.9442787555512124 1.0 1.0 14 Q9UHX1 1 |
| Abnormal atrioventricular valve morphology 0.2575815085874229 0.0678626768606137 0.9458949497801284 1.0 1.0 40 Q15056,Q15233,Q96L58,P02545,P06753,O75431,O00192,O60826,O75844,Q9UIG0 10 |
| Abnormal vitreous humor morphology 0.2790557978530152 0.0674910160140442 0.9461908139014984 1.0 1.0 10 O15484,P35222,P04439 3 |
| Polycystic kidney dysplasia 0.2739320231131296 0.0670153560849939 0.9465694782946474 1.0 1.0 16 P23786,O00192 2 |
| Hypogonadism 0.2608636519785999 0.0642216737335273 0.9487937198725752 1.0 1.0 100 Q4J6C6,Q8IWS0,P02545,O60313,O43395,O95714,Q96RR1,Q13049,P00403,P03886,O95155,Q15056,O15078,Q7LG56,O95470,O15287,O43172,P31749,Q15555,Q8WWY3,P51809,Q93009,Q16740,Q96RK4,O75844,Q9UIG0 26 |
| Periventricular leukomalacia 0.2795599704974167 0.0636946299087829 0.9492133807780354 1.0 1.0 14 Q93009,P11177,Q9UHX1 3 |
| Right ventricular dilatation 0.2892062620159237 0.0635168199076778 0.9493549659379076 1.0 1.0 2 P19022 1 |
| Abnormal proximal phalanx morphology of the hand 0.3204176971695662 0.0615701918467227 0.95090511535017 1.0 1.0 4 P42345,Q9ULC3,Q14807 3 |
| Broad face 0.3204176971695647 0.0615701918467213 0.9509051153501712 1.0 1.0 4 P21333,Q9BZK7,Q6PJG6 3 |
| Abnormal urine protein level 0.2526212093663246 0.0613638796283512 0.9510694180064064 1.0 1.0 62 P31040,P35579,P03886,Q14108,Q15056,Q15046,P09601,O95470,Q9UIG0,P57740,O43707,Q03252,O75431,Q8N1F7,P04062,P06280,P00403 17 |
| Spina bifida occulta 0.2648684219531352 0.0601044902995443 0.9520724136892252 1.0 1.0 20 Q9UHX1,Q15056 2 |
| Deviation of the hand or of fingers of the hand 0.256856962606182 0.0575747916704315 0.9540873296882056 1.0 1.0 121 Q13045,Q7RTS9,Q8TD16,Q8N3U4,Q8WVM7,O75419,Q71SY5,P02545,Q9Y366,Q9UBM7,Q9Y619,O60566,Q9UHX1,Q8WVQ1,Q96L58,Q14739,Q9H6K4,O95155,Q15056,Q15233,Q03252,Q9Y448,O15287,P11274,P31749,Q9UQE7,Q93009,P42356,O75175,Q9UIG0 30 |
| Granulocytopenia 0.3157460840890465 0.0574347923862403 0.9541988484178496 1.0 1.0 4 P54819,Q9Y4L1,O75533 3 |
| Simple ear 0.3045629466740023 0.0568823107097259 0.9546389455039644 1.0 1.0 5 P16435,O60231,Q96KP1,Q92925 4 |
| Poikilocytosis 0.2664216220377103 0.0560435249767233 0.9553071337088213 1.0 1.0 17 P11166,P41440 2 |
| Generalized onset seizure 0.2596706910129019 0.0555533886174152 0.9556975976169256 1.0 1.0 109 Q05639,Q01105,Q14108,Q96N67,Q71SY5,O75503,Q9Y619,P16278,P11166,O60566,Q8NHS3,Q9NXR1,Q969N2,Q96L73,P03886,O14936,P55011,P07602,Q15046,P00846,Q9Y4W6,Q9UBB6,Q9Y448,P04062,O95239,Q96N66,Q14139,Q6PJT7,Q9NUQ7 29 |
| Inverted nipples 0.2770241984783254 0.0553680805128756 0.9558452248748086 1.0 1.0 8 Q969N2,Q15067 2 |
| Heteronymous hemianopia 0.2905735200304794 0.0542301924653481 0.9567517659619696 1.0 1.0 6 P35222,P31749 2 |
| Abnormal dental root morphology 0.2750624035206901 0.0533685447783526 0.9574382671129592 1.0 1.0 9 Q9Y366 1 |
| Abnormal dental pulp morphology 0.2750624035206901 0.0533685447783526 0.9574382671129592 1.0 1.0 9 Q9Y366 1 |
| Optic atrophy 0.2726592002234407 0.0528396659250349 0.9578596567914196 1.0 1.0 214 P07942,P98175,Q5KU26,O00192,Q9HC21,Q9UBM7,Q7KZN9,P06280,P16278,A2RRP1,O60313,O75251,Q6P4Q7,Q8NHS3,Q9H6K4,Q6ZXV5,Q9BPX6,Q96RR1,Q5H8A4,P00403,P03886,O14936,O95155,P07602,O15078,P50897,P00846,O43505,P52732,Q9Y4W6,Q96F07,Q9Y448,Q9H9S5,P51798,O96028,P41440,Q96CU9,Q15555,Q8WWY3,O75306,Q8NAT1,Q9BSJ2,O43681,O60826,O75175,P49770,Q9GZY8 47 |
| Aplasia hypoplasia of the patella 0.2890058952940721 0.0524547658591897 0.9581663372971962 1.0 1.0 6 Q9Y619,Q9Y5S9,O75419 3 |
| Pulmonic stenosis 0.2546328553454609 0.0512889159363162 0.9590953002825432 1.0 1.0 34 Q9UQE7,P55263,Q15056,O75306,O60826,Q9UIG0 6 |
| Renal cortical cysts 0.2878350449249394 0.0511527928324172 0.9592037684248595 1.0 1.0 6 O15078 1 |
| Hypoplasia of the pons 0.2618596729450063 0.0489120283583129 0.9609894030928614 1.0 1.0 20 Q9H9S5,Q96N67,O14936 3 |
| Chronic hepatic failure 0.3027856171489083 0.0472799634960104 0.9622900970354344 1.0 1.0 4 Q10713 1 |
| Leiomyosarcoma 0.2713849778648403 0.0469528419329275 0.9625508127296888 1.0 1.0 8 O60566,P31749 2 |
| Large fleshy ears 0.3016483516483537 0.0455668754116791 0.963655471327262 1.0 1.0 3 Q9BZK7,P21281 2 |
| Gastrointestinal hemorrhage 0.2536093698347121 0.0449237989571181 0.9641680471669556 1.0 1.0 35 P31040,P16930,Q9UHX1,P54277,Q9NZ08,Q02241,O76024,Q14739,P49257,O00192,Q9UGP8,P35222,Q9UJS0 13 |
| Aplasia hypoplasia of the ear 0.2503389771673233 0.0445964808476301 0.9644289477476172 1.0 1.0 61 Q15555,O95155,P98175,Q9NUN5,P46783,Q8N3U4,O75419,Q9H9S5,O96028,Q6PGP7,Q5H8A4 11 |
| Focal emotional seizure 0.269310367026475 0.0440096127575954 0.9648967414204916 1.0 1.0 8 Q05639,Q01105,Q96JM3,Q00610 4 |
| Tetralogy of fallot 0.2479093302315434 0.041675545005445 0.9667573492776872 1.0 1.0 48 Q9UHX1,Q15056,P98175,O95155,O60826,O00192,Q6PGP7,Q9UIG0 8 |
| Abnormality of the diaphragm 0.2602659649028098 0.0412086985934595 0.9671295190900184 1.0 1.0 29 O96028,Q9UBM7,Q5H8A4,Q9UQE7 4 |
| Arnold chiari type i malformation 0.2681665778261921 0.0410197525769186 0.967280148834682 1.0 1.0 7 Q9UNW9,Q15233,O75419 3 |
| Abnormal circulating aromatic amino acid concentration 0.2780008764817283 0.0410126995399403 0.967285771612318 1.0 1.0 6 Q9NVS9,P16930 2 |
| Short ribs 0.2686777479787692 0.0397412903629132 0.9682993827141056 1.0 1.0 11 Q96HY6,Q14739 2 |
| Abnormal drinking behavior 0.2907392140698137 0.0394622069058127 0.9685218845519064 1.0 1.0 4 Q9NQ48,Q6P1J9,O76024 3 |
| Upper motor neuron dysfunction 0.3119460977831883 0.0389853385528983 0.96890207786758 1.0 1.0 409 Q99720,P07942,Q86XL3,O15118,Q9HD42,Q7RTS9,Q8TD16,Q9UIG0,Q71SY5,Q5KU26,O75298,O75027,O14773,O75503,Q7KZN9,Q9NR77,P16278,P11166,Q9UBX3,Q8N0X7,Q96L58,Q9Y487,Q15392,O75787,O95831,O75251,Q14203,Q6ZXV5,Q969N2,Q13813,Q6DKK2,P50336,P03886,P20700,O14936,O00754,O95155,P07602,O15078,P50897,P55011,Q15056,P00846,O43505,P52732,Q7LG56,Q96F07,Q9H9S5,O75530,Q9BX67,P41440,Q96CU9,Q9Y3C6,Q15051,Q96N66,P04066,Q68CQ7,O00584,Q13423,P61916,O75569,Q9NZ08,P35606,Q15165,O75306,Q01082,P11117,Q9BSJ2,O43681,Q9NUQ7,P07196,Q9UEY8,Q9GZY8 73 |
| Abnormality of refraction 0.2530877493446115 0.0382707795179257 0.9694717882785348 1.0 1.0 169 Q13045,P98175,Q9HD42,O75419,Q71SY5,Q8N201,Q8N3R9,Q9Y366,A2RRP1,Q9UHX1,Q8WVQ1,Q8NCH0,Q96L58,Q9Y487,Q13868,Q969N2,Q5H8A4,O14936,O00754,P55011,O95155,Q15056,Q15233,P52732,P30533,Q9H9S5,O75530,O15287,Q9UQE7,Q15555,Q13555,Q15437,Q93009,Q9UIG0 34 |
| Anencephaly 0.2588989862510339 0.0382343075691598 0.9695008674004556 1.0 1.0 20 O00192,O43505,O15078 3 |
| Ischemic stroke 0.2835164835164857 0.0374419453102104 0.970132628581242 1.0 1.0 3 O00443,P18583 2 |
| Subarachnoid hemorrhage 0.2835164835164857 0.0374419453102101 0.9701326285812422 1.0 1.0 3 P17301,Q6YHK3 2 |
| Abnormal fear anxiety related behavior 0.254960581622944 0.0363291597292314 0.971019899179356 1.0 1.0 121 Q13045,Q8N3R9,O00192,O75503,P06280,P11166,Q8N0X7,Q14203,Q96RR1,P50336,Q6DKK2,P03886,P00403,O00754,P55011,Q15056,Q15233,Q7LG56,P55795,Q9UQE7,Q68CQ7,Q15165,Q01082,O75175,Q9UIG0 25 |
| Congenital onset 0.2528150166488598 0.0353375275772338 0.971810599327294 1.0 1.0 126 Q4J6C6,Q9HD42,Q8TD16,Q71SY5,Q5KU26,P06753,Q9HC21,Q96EK5,Q9UHX1,O14678,Q9NXR1,Q9BUB7,Q5H8A4,P20674,Q9Y3D3,P55011,P07602,Q15046,O43505,Q03252,Q9H9S5,O75530,Q9BX67,Q9NWS8,Q96N66,P08670,Q9NQT5,P25705 28 |
| Hyperpituitarism 0.25698880803079 0.0352758598721106 0.9718597723789067 1.0 1.0 19 Q12824,P51809,P57740,P35222,Q8IY37,P31749 6 |
| Aplasia hypoplasia of fingers 0.2574318166964269 0.0323559300164122 0.9741882068224648 1.0 1.0 98 Q9Y366,Q9UQE7,Q9UHX1,Q8WVQ1,Q9UBM7,Q03252,O95831,P02545,Q9Y448,P51798,O96028,O60826,O75844,P11274,O14936 15 |
| Impaired mastication 0.2599176584631532 0.031944487949044 0.9745163204745112 1.0 1.0 7 P06753,Q14738 2 |
| Lower limb hypertonia 0.2672024634298804 0.0315322550885198 0.9748450690871266 1.0 1.0 12 O00400,Q14739 2 |
| Erythrocyte inclusion bodies 0.2753793892163641 0.0315181143342211 0.9748563461714737 1.0 1.0 4 O14936 1 |
| Aplasia hypoplasia of the humerus 0.2611235501158059 0.0313583864316504 0.9749837276335728 1.0 1.0 10 O00116,O15228,Q9Y5S9 3 |
| Increased megakaryocyte count 0.2598901098901122 0.0303426447259727 0.975793786643175 1.0 1.0 3 O75533,P04637 2 |
| Abnormal cd4 cd8 ratio 0.2642287599670092 0.0290858970885666 0.9767960835333168 1.0 1.0 6 Q13432,Q9H0U3,O75083,P17812,O00203 5 |
| Abnormal number of granulocyte precursors 0.2513736263736288 0.0285570354864035 0.9772178788113834 1.0 1.0 3 Q01130,O75533 2 |
| Abnormality of the pancreas 0.2539158258214478 0.0257599999176019 0.9794487666942596 1.0 1.0 86 P03886,Q9UHX1,O95155,O15078,Q9NZ08,P53985,P14174,P02545,Q9NQH7 9 |
| Neuronal loss in the cerebral cortex 0.2609603567394208 0.0245504694659201 0.980413527017062 1.0 1.0 5 Q9NXR1 1 |
| Abnormal granulocytopoietic cell morphology 0.2514427040395784 0.0229296761803436 0.9817063684461352 1.0 1.0 4 Q01130,Q14980,O75533 3 |
| Abnormal cardiac ventricle morphology 0.2707797912272408 0.0219740728168342 0.982468637438102 1.0 1.0 215 O43772,O75419,Q71SY5,P02545,P06753,P10253,O00192,Q9UBM7,Q7KZN9,P06280,P13807,O60566,Q9UHX1,Q8WVQ1,P49748,Q96L58,O75787,O75251,Q14739,Q9NXR1,P42892,Q6PGP7,Q96RR1,P00403,P03886,O14936,P55011,Q15056,O15078,P23786,Q7LG56,Q9H9S5,O75431,P78536,O96028,P11274,Q96CU9,Q9UQE7,P46783,O75306,Q01082,O60826,O75844,Q9UIG0 44 |
| Abnormal neural tube morphology 0.2462978973192306 0.0214295028482827 0.9829030390963224 1.0 1.0 46 Q9UHX1,Q8TAA9,Q15056,O15078,Q9Y5P6,O15287,Q9UIG0,Q8N3U4,Q10713,Q9H9S5,Q9Y5S9,O00192,Q9HC21,Q99707,Q14683,Q14807 16 |
| Abnormal metabolism 0.2449469863500222 0.0213474769612904 0.9829684713168524 1.0 1.0 54 Q9Y487,O75787,O14678,P41440,Q9NUN5 5 |
| Primary microcephaly 0.2549764944903882 0.0195917179574889 0.9843690706792124 1.0 1.0 17 Q9UQE7,Q8NB90,Q03252,Q9NXR1,P35222 5 |
| Glucose intolerance 0.2530356557632486 0.019056737184305 0.984795843881878 1.0 1.0 122 P02545,O60313,O43395,O95714,Q96JJ3,O43676,O75251,Q9Y6M1,Q96RR1,Q96L73,P03886,P00403,Q15056,P00846,Q9Y2U8,Q7LG56,Q03252,O75431,Q96CU9,O43172,Q969M3,Q15555,Q8WWY3,O75306,P31751,O75380,O75844,Q9UIG0 28 |
| Abnormality of urine calcium concentration 0.2623633240802166 0.0189229937033163 0.984902536501174 1.0 1.0 14 Q969N2,Q15056 2 |
| Abnormality of cardiovascular system electrophysiology 0.2551047192129418 0.0188672154817616 0.9849470331390612 1.0 1.0 115 O43772,P02545,P06753,P10253,P06280,P49748,P42892,Q9BUB7,Q96RR1,P50336,P03886,P07602,Q15056,P23786,P00846,Q7LG56,P09493,O75306,Q8NFF5 19 |
| Lewy bodies 0.247388675096213 0.0185377106469033 0.9852098939822832 1.0 1.0 5 P04062,Q6Y7W6,Q96QK1,O75165 4 |
| Flat occiput 0.262045444983147 0.0181757846878685 0.9854986204653688 1.0 1.0 14 Q9BUB7,O00754,Q9Y2U8,P52732 4 |
| Abnormality iris morphology 0.2547574268289348 0.0172791374891331 0.98621392899148 1.0 1.0 92 Q9NR77,Q9UHX1,O95155,O15078,Q9UBM7,Q15056,Q8WXW3,O15287,O43505,Q86YV9,Q8NAT1,Q01082,Q9H9S5,Q96EK5,O96028,O60826,Q5H8A4,Q9UIG0 18 |
| Phimosis 0.2214894201703879 0.0169999948572927 0.9864366198751986 1.0 1.0 4 Q9UJX6,O60832,Q96L73 3 |
| Photophobia 0.247840772906216 0.0149966704338268 0.988034836693534 1.0 1.0 40 Q13432,O43395,Q15555,P07602,Q8WWY3,Q9NZ08,Q86YV9,Q9Y4W6,Q6P4Q7,P04439 10 |
| Oral cleft 0.2548708605577036 0.0148710442775164 0.9881350606874156 1.0 1.0 177 Q13045,O15344,P98175,Q8IWS0,Q8N3U4,Q8WVM7,O75419,Q71SY5,Q8N201,P02545,O00192,Q9HC21,Q9Y619,Q9UBM7,Q96EK5,O60566,Q9UHX1,Q8NCH0,Q96L58,Q15392,Q10713,Q14739,Q6PGP7,Q5H8A4,Q8WYQ5,P29372,O14936,Q15233,O15078,Q8WXW3,O43505,Q9H9S5,O15287,O96028,P11274,Q9UQE7,Q15555,Q9NX62,P46783,Q8NAT1,O60826,O75844,Q9NUN5 43 |
| Wide anterior fontanel 0.2537067865538142 0.013859335396544 0.9889422042643132 1.0 1.0 22 Q9Y487,O75718,O75419 3 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.2473836002015457 0.0124929729114748 0.9900323090795972 1.0 1.0 37 P02545,Q9Y448,Q9Y366,O60826,O75844,P11274 6 |
| Abnormal number of incisors 0.2350838603244494 0.0114814235326287 0.9908393506918964 1.0 1.0 6 Q8N3U4,A5YKK6,P41227,Q14683,P54132 5 |
| Abnormal blistering of the skin 0.2536292470268761 0.0109679775205476 0.991248995526054 1.0 1.0 23 Q9NZ08,O95155,P50336 3 |
| Hypomimic face 0.2584489807991394 0.0099249967315601 0.9920811283508972 1.0 1.0 14 Q96RR1,O75787 2 |
| Decreased lacrimation 0.2332233223322416 0.009668908763056 0.9922854471810908 1.0 1.0 7 Q9NRG9,P55011,Q10567,O95163,Q03001,Q7Z392 6 |
| Pain in head and neck region 0.2379577856235081 0.0089322568312042 0.9928731849504572 1.0 1.0 8 Q12824,O75533,P31749 3 |
| Aplasia hypoplasia of the thumb 0.2430861638790464 0.007302188966724 0.9941737479412986 1.0 1.0 47 Q9UQE7,Q8WVQ1,P46783,Q03252,Q9Y448,O96028,Q9UBM7 7 |
| Mediastinal lymphadenopathy 0.1932380428807117 0.0068094089159971 0.9945669197446544 1.0 1.0 5 P01889,O15460,Q9H0U3,Q01844 4 |
| Displacement of the urethral meatus 0.2488510876355023 0.0064515670631886 0.9948524299566311 1.0 1.0 129 O15344,O75419,Q71SY5,P02545,O00192,Q9UBM7,Q96EK5,O60566,Q9UHX1,Q9UBX3,O75787,Q9BUB7,Q6PGP7,Q5H8A4,P29372,O95155,Q15046,O96028,Q9UQE7,Q15555,P51809,P46783,Q01082,O60826,O75844 25 |
| Hypophosphatemia 0.2213362661534319 0.0061429075963601 0.9950986996957958 1.0 1.0 6 P16930,P53680,Q6P1J9,P51798,Q01968 5 |
| Abnormal involuntary eye movements 0.2992754593803127 0.0056987454940284 0.995453083565099 1.0 1.0 319 Q05639,Q99720,O75175,Q9HD42,Q8IWS0,O43772,Q5KU26,O75027,Q8N3R9,P39210,O75503,Q9Y366,Q9UBM7,Q7KZN9,O14773,Q9P0J1,Q16625,Q9NR77,P11166,O60313,O60566,Q5THJ4,O00400,O43395,O43676,Q15392,O95831,O75251,Q13868,Q10713,Q6P4Q7,Q9H6K4,Q5JTZ9,Q96RR1,Q969N2,Q5H8A4,Q13049,Q9H061,Q6DKK2,O14936,P03886,P20700,O00754,P55011,O95155,P07602,Q8IV08,O15078,Q15056,Q8WXW3,Q15046,P00846,P52732,Q9Y4W6,Q96F07,P51798,O96028,O15287,P41440,Q96CU9,Q15051,Q9UQE7,Q15555,Q8WWY3,O00584,Q9NQT5,O75306,Q86YV9,P25705,Q93009,P42356,Q96RK4,O75380,P07196,Q9UEY8,Q9UIG0 76 |
| Hyperextensible skin 0.2462630755039188 0.0047030665442787 0.996247509649349 1.0 1.0 18 Q9NWM8,Q9UHX1,Q96L58,Q8NCH0 4 |
| Abnormal vascular morphology 0.2818336913710715 0.0042512069323934 0.996608037840888 1.0 1.0 251 P55263,P98175,O15118,Q71SY5,P02545,P06753,P10253,Q8N3R9,O00192,Q9UBM7,P05067,P16278,Q9UHX1,Q96L58,Q9Y487,Q15392,O75718,O14678,Q6ZXV5,P42892,Q969N2,P10619,P03886,Q9Y3D3,P55011,O95155,P07602,Q15056,P00846,Q9Y448,P08236,P51798,O75530,P11274,Q9UQE7,P61916,Q9NZ08,Q01082,O60826,O75844 40 |
| Progressive cerebellar ataxia 0.245629901237686 0.0037750582657011 0.9969879464478292 1.0 1.0 40 Q9Y487,P41440,Q7KZN9,Q96CU9 4 |
| Abnormal cns myelination 0.2406068344209705 0.0028671810506611 0.9977123236410452 1.0 1.0 148 P03886,Q99720,P07602,O00584,O43676,O75787,O95831,O75251,P10253,O43681,Q13813,O75380,Q7KZN9,Q96CU9 14 |
| Azoospermia 0.2553066527001713 0.0022743197357318 0.9981853569609132 1.0 1.0 13 O15287,P04062,Q13423,P51809 4 |
| Abnormality of the gastric mucosa 0.2486212800528651 0.0013413280831916 0.9989297753523678 1.0 1.0 17 Q15056,P50851,O76024,Q14739,P04062,Q6PGP7,Q9UIG0 7 |
| Abnormality of bladder morphology 0.2467642072306302 0.0001414075927622 0.9998871730653308 1.0 1.0 11 Q15056,Q9UIG0 2 |
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