| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Cognitive impairment 0.4925982555234136 3.4790152123974103 0.0005032600176739 0.8992832675286693 0.370469114329653 165 Q9BQE5,P50542,Q9Y2R0,P54802,P35637,O60313,P17900,P07196,Q99720,P00846,P40855,O76024,Q9H6K4,O75503,O43826,Q9NQZ5,Q9Y619,P54886,Q9NPL8,O95470,Q15526,P10644,P50897,Q5XKP0,Q9NZ08,P13473,Q9Y263,Q86SQ9,Q14108,P03886,P21964,O75381,P07602,Q13510,Q9UBB4,O95831,Q9NZJ7,Q9Y5Y5,Q10713,Q6DKK2,Q9BRK0,P04062,Q9Y287,P11166,P35670,Q15437,O75306,O43681,O15118 49 |
| Dementia 0.5638211537848401 3.4197506374454334 0.0006267856263395 0.9426761523146154 0.370469114329653 58 Q8IY17,P21912,P35637,O60313,P17900,P00846,O76024,Q9NQZ5,P54886,O96008,Q14108,P03886,P07602,Q13510,Q9UBB4,Q9NZJ7,P04062,Q9Y287,P35670,O43681,O15118,P04080 22 |
| Horizontal nystagmus 0.7062325650680771 3.2637674481693715 0.001099413649098 0.9933695600603996 0.370469114329653 24 P50542,P07602,P54886,O95831,Q9H061,Q15526,Q9NZJ7,O14773,P00846,P04062 10 |
| Mental deterioration 0.5061304379706513 3.25320262467387 0.0011411209515577 0.994519082240339 0.370469114329653 96 Q9BQE5,Q8IY17,P54802,P21912,P35637,O60313,P17900,P00846,O76024,O75503,Q9NQZ5,O95140,P54886,Q9NPL8,O95470,Q15526,P10644,P50897,Q5XKP0,O96008,Q86SQ9,Q14108,P03886,P21964,P07602,Q13510,Q9UBB4,Q9NZJ7,Q10713,P04062,Q9Y287,Q13057,P35670,O75306,O43681,O15118,P04080 37 |
| Muscle abnormality related to mitochondrial dysfunction 0.623262861915741 3.1202098899321866 0.0018072221756899 0.9997383201384036 0.370469114329653 38 Q9Y606,P03886,Q9Y2R0,Q9Y6M9,Q86Y39,O60313,Q53H12,Q96CU9,O75306,O43676,Q9UBX3,Q15526,Q9NP80,P00846 14 |
| Abnormal biliary tract morphology 0.6896760338254772 2.987085707659325 0.0028165074925514 0.9999974036262228 0.370469114329653 22 P50542,Q14108,P09601,Q9NSD9,P07602,Q14739,Q9NZJ7,Q5XKP0,Q10713,P04062 10 |
| Respiratory distress 0.5362713316245219 2.975808501689125 0.002922172716135 0.9999983985718448 0.370469114329653 53 P21281,P03886,P07602,Q9Y619,Q969X5,Q13510,O75306,O95831,P53701,P23786,Q15526,Q9NZJ7,Q9UHX1,P51571,P49748,P00846,P04062 17 |
| Bulbar signs 0.8199416294090941 2.9396819611635507 0.0032854929298407 0.9999996960836012 0.370469114329653 13 Q9Y263,P03886,P07602,P35637,O43681,Q9NZJ7,Q99720,P00846,P04062,Q15043 10 |
| Optic disc pallor 0.5449564194487352 2.9087313909797903 0.0036289851157158 0.9999999368827358 0.370469114329653 50 Q6P4Q7,O60313,O43676,Q9H061,P00846,Q9H6K4,Q86Y39,O95140,Q9NPL8,Q96CU9,P03886,O95831,Q8WWV3,Q10713,Q9Y287,Q9Y6M9,O75306,O95298,Q9Y375 19 |
| Biliary tract abnormality 0.6458579693628814 2.893515693462243 0.0038095525294021 0.9999999723801948 0.370469114329653 25 P50542,Q14108,P09601,Q9NSD9,P07602,Q14739,O95202,Q9NZJ7,Q5XKP0,Q10713,P04062 11 |
| Polyneuropathy 0.7239729092200324 2.8897879408542786 0.0038550177934568 0.9999999775696732 0.370469114329653 18 P03886,P35670,P07602,O95831,Q9NZJ7,Q15041,P00846,P04066,P31930 9 |
| Mitochondrial myopathy 0.6142152130913537 2.805852752138206 0.0050183618969308 0.9999999998911818 0.370469114329653 29 Q9Y606,P03886,Q9Y6M9,Q86Y39,O60313,Q53H12,Q96CU9,O75306,O43676,Q9NP80,P00846 11 |
| Ectopic calcification 0.4980232592948295 2.77347608870546 0.0055460916013334 0.9999999999903162 0.370469114329653 58 P50542,O60313,P38435,O75792,O43175,O75844,P40855,Q14739,P23786,P08236,P10644,O75381,P03886,Q9NSD9,O00116,Q9Y5Y5,P04062,P11166,P35670,O75431 20 |
| Abnormal activity of mitochondrial respiratory chain 0.4977019892644577 2.766235368575301 0.0056707589263567 0.9999999999945328 0.370469114329653 57 Q7KZN9,Q9P0J0,P03886,Q9Y2R0,Q70HW3,Q86Y39,Q9Y6M9,P13073,Q96CU9,O75306,O43676,Q9UBX3,O95298 13 |
| Postural tremor 0.6985017568441245 2.739214635219219 0.0061586152843737 0.9999999999994168 0.370469114329653 18 Q14108,Q9H6K4,P03886,Q9NR77,P35637,P54886,O75306,O14773,P00846,Q9BRK0 10 |
| Peripheral axonal neuropathy 0.4977193910828129 2.707352514698126 0.0067822198438116 0.9999999999999668 0.370469114329653 55 Q7Z392,Q8IY17,O60313,P07196,P00846,O76024,O95140,P54886,P48643,Q9BPX6,Q5THJ4,P03886,O15269,P07602,O95831,Q9NZJ7,Q8IV08,Q13057,Q9NVI7 19 |
| Action tremor 0.4920023631615393 2.7047668105763245 0.0068352353318104 0.999999999999974 0.370469114329653 56 Q9NW15,Q9Y287,Q14108,Q9H6K4,P03886,Q9NR77,Q5JRX3,P35637,P07602,P54886,O75306,Q9UBB4,O43681,Q9NZJ7,O14773,Q99720,P00846,Q9BRK0 18 |
| Poor head control 0.4848240104269061 2.6965357943792214 0.0070064866963466 0.999999999999988 0.370469114329653 69 Q86SQ9,P00374,Q9P0J0,O14617,P03886,Q9Y6M9,Q86Y39,P07602,P13073,Q96CU9,O75306,O43676,P17900,Q9NZJ7,Q5XKP0,Q10713,Q9NWM8,O75340 18 |
| Peripheral demyelination 0.7016467912711237 2.6793541321046805 0.0073764334551089 0.9999999999999978 0.370469114329653 17 P03886,Q9NR77,P07602,Q15526,P07196,P00846 6 |
| Rigidity 0.4945809587282496 2.675880736602857 0.0074533162495156 0.9999999999999984 0.370469114329653 55 Q86SQ9,Q9Y263,Q9Y287,Q9H6K4,P07602,Q96CU9,O75792,Q15392,Q9NZJ7,Q9BPX6,P00846,Q9BRK0,P31930,P04062 14 |
| Sensorimotor neuropathy 0.5763756576405012 2.656064670314108 0.0079058451630169 0.9999999999999998 0.370469114329653 34 P03886,Q9Y2R0,Q15120,Q9NR77,P07602,O60313,O95831,Q9NZJ7,P07196,Q92734,P00846,P05023,Q5THJ4 13 |
| Schizophrenia 0.6584660273820336 2.643112942642479 0.0082147628242605 1.0 0.370469114329653 20 O76024,Q9BQE5,P21964,P07602,P16615,P04062 6 |
| Hyperintensity of cerebral white matter on mri 0.6799157463451588 2.627576627132384 0.008599547105363 1.0 0.370469114329653 18 O75503,P21912,P07602,O43681,P17900,Q9NZJ7,Q13153,O75340,Q15043 9 |
| Scotoma 0.7584105963192721 2.6254346972686977 0.0086538407015059 1.0 0.370469114329653 13 Q9Y287,Q9H6K4,P03886,O60313,O75306,Q9H061,Q8WWV3,P00846 8 |
| Abnormality of corneal stroma 0.7541359283612178 2.6031370370776994 0.0092375022292345 1.0 0.370469114329653 13 P10619,Q9Y5Z9,Q13510,P54886,O43505,P04062 6 |
| Functional motor deficit 0.4193255315282507 2.5998354821658807 0.0093268462847715 1.0 0.370469114329653 149 Q7Z392,P46976,Q9Y2R0,Q15120,P21912,P35637,Q53H12,Q13608,P38606,O75792,P07196,Q99720,P11047,P00846,Q96DX4,O75340,O95140,O43292,Q7RTS9,Q8NI60,P23786,Q15526,P10644,Q9H2D1,Q9NWM8,Q9BPX6,P13473,Q5THJ4,Q86SQ9,Q9Y606,P03886,Q9NSD9,Q9NR77,P07602,Q13510,Q8TD16,Q9NZJ7,Q15041,Q6PML9,Q9Y5P6,P04062,Q3ZAQ7,Q13057,P35670,Q12768,Q05086,O43681,P53701,O14773,O14653,Q92734 51 |
| Corneal opacity 0.4808866205294945 2.591088615900999 0.0095672852041848 1.0 0.370469114329653 56 P50542,Q9Y4P3,O75844,P10619,Q6NUK1,P40855,P54886,P08236,P51648,Q9Y5Z9,O75381,Q13510,Q9Y5Y5,O43505,Q06136,P04062,P35670,P53701,Q9NVI7,P04066 20 |
| Abnormal retinal artery morphology 0.6051443312671358 2.583350903086398 0.0097845748485481 1.0 0.370469114329653 24 P10619,P03886,P21964,P07602,Q13510,P17900,Q9NZJ7,P00846 8 |
| Central scotoma 0.808035304412852 2.581424655738508 0.0098393466347983 1.0 0.370469114329653 11 Q9Y287,Q9H6K4,P03886,O60313,O75306,Q9H061,Q8WWV3,P00846 8 |
| Episodic vomiting 0.7763005407295954 2.5660710668254416 0.0102857751968827 1.0 0.370469114329653 12 P22695,P03886,Q9Y619,Q9NP80,P00846 5 |
| Impaired proprioception 0.5450617784689011 2.5191772027921315 0.0117629441117381 1.0 0.370469114329653 39 Q9H6K4,P54802,Q15120,O95140,Q9NR77,Q12768,Q9Y619,P54886,O00165,Q8IV08,O14773,P07196,P00846,Q9BRK0,Q5THJ4 15 |
| Optic neuropathy 0.5959714181339383 2.5188223423702167 0.0117748050829833 1.0 0.370469114329653 24 Q9P0J0,P03886,Q9Y6M9,Q86Y39,Q96CU9,O43676,P00846 7 |
| Myoclonic seizure 0.4831473441191208 2.5089121111936747 0.0121103611822632 1.0 0.370469114329653 54 Q86SQ9,O14617,O75503,P03886,P11166,O43292,Q9UPT5,P07602,Q9Y619,P00846,Q13510,O43909,Q9NZJ7,Q8WWV3,Q5XKP0,O43175,Q96N66,P04062 18 |
| Vascular skin abnormality 0.4039453130421502 2.487863904145297 0.0128512901404158 1.0 0.370469114329653 121 P38435,O75792,P07858,Q9UER7,P00846,O75844,P10619,Q6NUK1,O43826,P54886,Q14739,P10644,P51812,Q9NWM8,P51648,Q14108,P03886,P21964,Q13126,Q8NCH0,Q06136,P04062,P35670,O75306,P53701,P04066 26 |
| Abnormal full field electroretinogram 0.8647781688238256 2.4865377703511777 0.0128992876003357 1.0 0.370469114329653 7 P00846 1 |
| Abnormal light and dark adapted electroretinogram 0.8647781688238256 2.4865377703511777 0.0128992876003357 1.0 0.370469114329653 7 P00846 1 |
| Abnormal lower motor neuron morphology 0.8073211108531682 2.475652651509567 0.0132992894893462 1.0 0.370469114329653 9 Q99720,Q13510,Q5THJ4 3 |
| Exercise intolerance 0.5510555672715682 2.4754581699773066 0.0133065348298153 1.0 0.370469114329653 35 P03886,Q9Y2R0,Q9NSD9,Q53H12,Q8NI60,P23786,Q15526,Q9H2D1,P13473 9 |
| Abnormal epiphyseal ossification 0.6394790546120426 2.45888906949688 0.0139367673450712 1.0 0.370469114329653 19 P40855,P50542,O75381,Q7RTS9,O00116,Q13608,Q14739,P38435,P56589,P08236,P10644,Q9UG56,Q9Y5Y5 13 |
| Poor eye contact 0.5391179797088028 2.4445107131161214 0.0145048772856173 1.0 0.370469114329653 38 Q9P0J0,P03886,Q9Y6M9,Q86Y39,O75306,Q96CU9,O43676,Q9UHX1,Q5XKP0 9 |
| Myoclonus 0.443339489438382 2.4424751342242663 0.0145869344553899 1.0 0.370469114329653 91 P00846,P00374,O75503,Q9NQZ5,P13073,Q96CU9,Q9UBX3,Q8NI60,P50897,Q5THJ4,Q86SQ9,Q14108,P03886,P07602,Q13510,Q9NZJ7,Q10713,P04062,O14773 19 |
| Abnormal peripheral nervous system physiology 0.5073430717543757 2.43862571336124 0.0147432296531879 1.0 0.370469114329653 47 O15269,Q15120,Q9NQZ5,Q9NR77,P07602,O60313,Q9Y619,O43681,Q9UBB4,O95831,P48643,Q92734,Q9NZJ7,P07196,Q99720,P31930 16 |
| Impaired vibratory sensation 0.5645134147816802 2.436277909991389 0.0148392787560509 1.0 0.370469114329653 29 Q15120,O95140,Q9NR77,Q12768,Q9Y619,P54886,Q13608,O00165,Q9Y6X9,O14773,P07196,O43819,P00846,Q9BRK0,O00400 15 |
| Abnormal muscle fiber morphology 0.4596606669242518 2.4129281521794645 0.0158249387224203 1.0 0.370469114329653 67 P46976,P03886,Q70HW3,P35637,O60313,O43676,Q8NI60,P23786,Q15526,O95831,P07196,Q9H2D1,Q99720,Q9BPX6,P00846 15 |
| Toe walking 0.6023730263556097 2.41188261998592 0.0158703899715733 1.0 0.370469114329653 22 Q9NP80,P07602,P35637,P54886,O43681,O95831,Q8TD16,Q9NZJ7,P50402,Q99720 10 |
| Muscle stiffness 0.6123791894242994 2.4103509612382767 0.015937181323153 1.0 0.370469114329653 21 P11166,P07602,P23786,O75792,Q15392,Q9NZJ7,P49748,P00846,Q9BRK0 9 |
| Erythema 0.6317505829544545 2.4096776468679204 0.0159666208023623 1.0 0.370469114329653 19 P51648,P07858,Q06136,P03886 4 |
| Gowers sign 0.676336078224822 2.3996649560882166 0.016410084185918 1.0 0.3713309725959221 15 Q8NAT1,Q7Z392,Q3ZAQ7,Q13510,Q8TD16,Q5T8D3,P07196,Q9NP80,Q9Y5P6,O75340 10 |
| Fluctuations in consciousness 0.784613407474888 2.396574904842099 0.0165491105926178 1.0 0.3717435679918104 8 O75306,P03886,P04062 3 |
| Pathologic fracture 0.6716818075450325 2.372859184492152 0.017650991813791 1.0 0.3772255733744962 15 Q13126,Q14108,P04062,P35670 4 |
| Decreased activity of mitochondrial complex i 0.5357830528464536 2.37176951901675 0.0177031299785399 1.0 0.3772255733744962 36 P03886,Q70HW3,Q9Y6M9,Q86Y39,O75306,Q96CU9,O43676,Q9UBX3 8 |
| Very long chain fatty acid accumulation 0.7780368087503678 2.365401483890865 0.018010534346895 1.0 0.3819908680085644 8 P40855,P50542,O75381,Q13608,P56589,Q9Y5Y5 6 |
| Epiphyseal stippling 0.6849856307125018 2.336555335058061 0.0194623171888734 1.0 0.3997665152309147 14 P40855,P50542,O75381,O00116,Q14739,P38435,P10644,P08236,Q9Y5Y5 9 |
| Hypothermia 0.7697684350735226 2.326040787662572 0.0200163748677097 1.0 0.4019903148516544 8 P00846,P03886,Q5XKP0 3 |
| Abnormal speech prosody 0.7694699864083319 2.324616545011554 0.0200924733099727 1.0 0.4019903148516544 8 P00846,P03886 2 |
| Retinal telangiectasia 0.9056259597537704 2.319263066196962 0.0203807767495802 1.0 0.4020882988229546 5 P00846,P03886 2 |
| Abnormal peripheral myelination 0.5488270809367942 2.3163530552443117 0.0205389997148479 1.0 0.4020882988229546 29 O15269,P03886,Q9NR77,P07602,O43681,Q15526,Q9NZJ7,P07196,Q92734,P00846 10 |
| Abnormality of head blood vessel 0.5564223576701282 2.31248408084006 0.0207510215890573 1.0 0.4020882988229546 27 P10619,P03886,P21964,P07602,Q13510,P17900,Q9NZJ7,P00846 8 |
| Difficulty walking 0.4435092715960219 2.3074409070228135 0.0210302529724022 1.0 0.4020882988229546 78 Q7Z392,P46976,Q15120,P35637,Q13608,P38606,O75792,Q96DX4,Q99720,P00846,O75340,O95140,O43292,Q7RTS9,Q15526,Q9BPX6,Q86SQ9,Q9NR77,P07602,Q13510,Q8TD16,Q9NZJ7,Q15041,Q6PML9,Q9Y5P6,Q13057,P35670,Q12768,O43681,O14773,O14653 31 |
| Progressive visual loss 0.5968970342830995 2.306523806303921 0.0210813814842441 1.0 0.4020882988229546 21 P03886,O75503,O14773,P50897,P00846 5 |
| Segmental peripheral demyelination remyelination 0.9017949984382604 2.303430022427296 0.0212546601798915 1.0 0.4020882988229546 5 Q9NR77,P00846,P03886 3 |
| Abnormal chorioretinal morphology 0.5586611904962487 2.301249254933275 0.0213775462600904 1.0 0.4020882988229546 26 P40855,Q8NAT1,P50542,O75381,O14936,Q8IY17,Q12768,Q9Y619,P53701,P56589,Q5XKP0,Q9Y5Y5,Q10713,O43505 14 |
| Abnormalities of placenta or umbilical cord 0.6784023354650314 2.299686483882692 0.0214659884143371 1.0 0.4020882988229546 14 P21281,Q12768,P16435,O43175,O75844 5 |
| Progressive spastic quadriplegia 0.7631860096682298 2.2945715616857076 0.0217576895888615 1.0 0.4037210450329233 8 Q9Y263,P17900,Q9NZJ7,P07602 4 |
| Underdeveloped supraorbital ridges 0.723023719967965 2.2941882497468447 0.0217796879557234 1.0 0.4037210450329233 12 P40855,Q6NUK1,P50542,O75381,Q13608,P56589,P52732,Q9Y5Y5,P16435 9 |
| Abnormal social behavior 0.4494515234471427 2.2914877179149302 0.0219352214239618 1.0 0.4049579339808345 65 Q9Y4P3,O43676,Q5KU26,Q9P0J0,Q86Y39,Q9NPL8,Q96CU9,Q5XKP0,P03886,P07602,Q9NZJ7,P11166,Q9Y6M9,O75306,O43681,Q9UHX1,O95298,Q9Y375,O43909 19 |
| Abnormal enchondral ossification 0.5433169705702405 2.2738454104856234 0.0229752828540352 1.0 0.4108890166414736 29 P40855,P50542,O75381,Q7RTS9,O00116,Q9Y619,Q13608,Q14739,O95202,P38435,P56589,P08236,P10644,Q96L58,Q9UG56,Q9Y5Y5,O43909 17 |
| Undetectable electroretinogram 0.9503677520811606 2.2718946504804345 0.0230928740939364 1.0 0.4108890166414736 4 O14773,P50897 2 |
| Increased cerebral lipofuscin 0.8938866012036751 2.270656934965941 0.0231677539329251 1.0 0.4108890166414736 5 P07602,O14773,P50897,O75503 4 |
| Ascites 0.5705992860136885 2.2626003912923234 0.0236603339940608 1.0 0.4108890166414736 23 Q14108,Q9NSD9,Q13510,O15118,P04062 5 |
| Abnormal choroid morphology 0.5495739626304561 2.2609666645784428 0.0237613213937097 1.0 0.4108890166414736 27 P40855,Q8NAT1,P50542,O75381,O14936,Q8IY17,Q12768,Q9Y619,P53701,P56589,Q5XKP0,Q9Y5Y5,Q10713,O43505 14 |
| Abnormal visual electrophysiology 0.4836727222142237 2.2536412672945567 0.0242187449936219 1.0 0.4108890166414736 48 Q86SQ9,O75503,P07602,Q53H12,Q96HR9,O43924,Q9NZJ7,O14773,P50897,P00846 10 |
| Abnormal renal tubule morphology 0.548561076313439 2.253322093666757 0.0242388476922272 1.0 0.4108890166414736 27 P03886,O43826,O75306,P23786,Q15526,P00846 6 |
| Abnormal pyramidal sign 0.3817653962696093 2.243273744872116 0.0248791673648995 1.0 0.4201814932738598 124 P35637,O60313,P17900,O75792,P07196,Q99720,P00846,Q9P0J0,Q9H6K4,Q9Y619,P54886,Q8NI60,P48643,P51812,Q9NZ08,P51648,Q5THJ4,Q15043,Q9Y263,Q9NR77,P07602,Q9UBB4,O95831,Q9NZJ7,Q6DKK2,Q9BRK0,P11166,Q12768,O75306,O43681,O14773,Q92734,P04066 33 |
| High frequency sensorineural hearing impairment 0.9402991854723044 2.2315779458967637 0.0256428705923001 1.0 0.4218640395276566 4 Q9NWM8,O75844 2 |
| Variable expressivity 0.4344668926446492 2.228207285188932 0.0258666954922004 1.0 0.4218640395276566 81 P46976,Q53H12,Q6P4A7,P17900,Q9H061,P07196,Q13885,P00374,P23258,O95140,O95470,Q8NI60,Q15526,Q5THJ4,Q9Y263,Q86SQ9,P03886,Q70HW3,Q9NR77,P07602,Q9BUF5,Q13510,Q8TD16,Q9NZJ7,P11166,Q9Y375 26 |
| Abnormal basal ganglia mri signal intensity 0.5286164698138632 2.226376132152167 0.0259889978284515 1.0 0.4218640395276566 31 Q7KZN9,Q9P0J0,P03886,O75306,Q96CU9,Q8NI60,Q15526,Q9BPX6,P00846 9 |
| Pulmonary infiltrates 0.8061795854228067 2.226264851984194 0.0259964462954542 1.0 0.4218640395276566 7 Q13510,P04062 2 |
| Proximal muscle weakness 0.4432280171489399 2.2231361239862695 0.0262066224348191 1.0 0.4237666606481401 65 Q7Z392,P21912,P10253,P35637,O60313,Q9BQT8,P07196,Q9NP80,P11047,Q99720,P00846,O75340,Q8NAT1,O95140,Q8NI60,Q5T8D3,Q16637,Q9BPX6,P13473,Q13126,Q13510,Q8TD16,P50402,Q9Y5P6,Q3ZAQ7,P35670,Q92734 27 |
| Blindness 0.4320829187947708 2.2185351217030327 0.0265183676169677 1.0 0.4252364525676507 83 Q86SQ9,Q9H6K4,P03886,Q9Y6M9,Q86Y39,P07602,Q96HR9,O75306,Q96CU9,P53701,O43676,P17900,Q9NZJ7,P50897,Q9NZ08,P00846 16 |
| Lower limb spasticity 0.4281349796905874 2.2012751494657294 0.0277165510168455 1.0 0.4252364525676507 86 P35637,O60313,O75792,Q99720,P00846,Q7KZN9,Q9P0J0,Q9H6K4,Q9Y619,P54886,Q96CU9,P48643,Q15526,Q5XKP0,P07602,Q9UBB4,O95831,Q9NZJ7,Q15041,Q9Y5Y5,Q6DKK2,Q9BRK0,P04062,P11166,Q12768,O75306,P56589,Q92734 28 |
| Basal ganglia cysts 0.799444237633783 2.1958250089510827 0.0281044709019175 1.0 0.4252364525676507 7 P00846 1 |
| Impaired social interactions 0.4811249450071772 2.1934083379190974 0.0282779721286565 1.0 0.4252364525676507 47 Q9P0J0,P03886,P11166,Q9Y6M9,Q86Y39,O75306,Q96CU9,Q9NPL8,O43676,Q9UHX1,Q5XKP0,O95298,Q9Y375,O43909 14 |
| Ventricular preexcitation 0.7982915689071806 2.1906047497460603 0.0284804071424489 1.0 0.4252364525676507 7 O75306,P00846,P03886,P13473 4 |
| Abnormality of peripheral nerves 0.4993109645986479 2.1777858067650486 0.0294219870660328 1.0 0.4252364525676507 41 O15269,Q15120,Q9NR77,P07602,Q9Y619,O43681,Q9UBB4,O95831,P48643,Q92734,Q9NZJ7,P07196,Q99720,P31930 14 |
| Abnormal circulating long chain fatty acid concentration 0.7946117274168049 2.173918057350317 0.0297112896750049 1.0 0.4252364525676507 7 P40855,P50542,O75381,P56589,P23786,Q9Y5Y5 6 |
| Proximal tubulopathy 0.557809015000691 2.1713436661724836 0.0299052038362459 1.0 0.4252364525676507 23 P03886,Q9Y6M9,Q86Y39,Q96CU9,O43676 5 |
| Abnormal brainstem mri signal intensity 0.5769578972274277 2.1709571956166407 0.0299344081741701 1.0 0.4252364525676507 21 P03886,Q9Y6M9,Q86Y39,O75306,Q96CU9,Q9NPL8,O43676,O95831 8 |
| Recurrent aspiration pneumonia 0.8316324091252387 2.162570112519256 0.0305742590772835 1.0 0.4289803735151162 6 Q13510,P04062 2 |
| Young adult onset 0.7223491509736297 2.159273102820515 0.0308289855712644 1.0 0.4299087896176328 11 P38435,O15118,P07602,Q14566 4 |
| Capillary hemangioma 0.73411537076355 2.154161603744152 0.0312275008160709 1.0 0.4333234641648655 8 P16435,Q9UHX1,Q7LGA3,O43909 4 |
| Focal t2 hyperintense brainstem lesion 0.603727879985416 2.1536974299766785 0.0312639078311931 1.0 0.4333234641648655 18 P03886,Q9Y6M9,Q86Y39,Q96CU9,O43676 5 |
| Phenotypic variability 0.403455948847956 2.1463243766414983 0.0318471080770819 1.0 0.4398402466770436 105 P46976,P21912,Q53H12,O60313,Q6P4A7,P17900,Q9H061,Q92733,P07196,P00846,Q13885,P00374,P23258,O95140,O95470,Q8NI60,Q15526,Q5THJ4,Q9Y263,Q86SQ9,P03886,Q70HW3,Q9NR77,P07602,Q9BUF5,Q13510,Q9UBB4,Q8TD16,Q9NZJ7,Q9Y5P6,Q3ZAQ7,P11166,Q9Y375 33 |
| Elevated pulmonary artery pressure 0.5378186481246866 2.1453233808763645 0.0319270003618643 1.0 0.4398402466770436 26 Q6NUK1,Q14108,P03886,O75844,P04062 5 |
| Abnormality of the 5th toe 0.7873837938310161 2.141047891176187 0.0322701762034556 1.0 0.4405748607417893 7 Q9Y263,Q10713,O43924,O43909 4 |
| Postaxial foot polydactyly 0.7873837938310161 2.141047891176187 0.0322701762034556 1.0 0.4405748607417893 7 Q9Y263,Q10713,O43924,O43909 4 |
| Progressive neurologic deterioration 0.5808008462309667 2.1354855435055 0.0327213698037109 1.0 0.4454013322534987 20 Q9Y287,P54802,P07602,P54886,Q9NPL8,O43681,Q9NZJ7,Q5XKP0,Q10713,P04062 10 |
| Morphological abnormality of the pyramidal tract 0.5618513493147531 2.131178818279021 0.0330744133397158 1.0 0.4482752061464395 22 P11166,Q12768,P35637,Q9Y619,Q9UBB4,Q9Y4P3,O95831,P00846 8 |
| Ragged red muscle fibers 0.6001079148741323 2.1305150986383112 0.033129110629682 1.0 0.4482752061464395 18 P03886,Q70HW3,O95831,Q9H2D1,P00846 5 |
| Abnormal auditory evoked potentials 0.7846312979224187 2.128497672706242 0.0332958427092613 1.0 0.4491983513438808 7 Q9NZJ7,P07602,P07196 3 |
| Abnormal mitochondria in muscle tissue 0.5706024275524363 2.127306057155345 0.0333946618140024 1.0 0.4492025305954307 21 P03886,Q9Y6M9,Q86Y39,Q96CU9,O43676 5 |
| Hypocholesterolemia 0.7274763288524002 2.121767964461864 0.0338572280796358 1.0 0.4527535485136058 8 Q9NZJ7,P07602,Q9NVI7,Q15800 4 |
| Decreased absent ankle reflexes 0.6637913027103846 2.1170133366635113 0.0342587159281237 1.0 0.4567828790416506 13 Q9H6K4,Q15120,O60313,P54886,Q15041,P07196 6 |
| Paroxysmal involuntary eye movements 0.5771551727149192 2.110911877714598 0.0347798869627304 1.0 0.4612692357890524 20 P03886,P11166,Q9Y6M9,Q86Y39,O75306,Q96CU9,Q9NPL8,O43676 8 |
| Abnormality of hepatobiliary system physiology 0.4195754640646661 2.1079982837554714 0.0350311378860819 1.0 0.4612692357890524 87 P50542,Q9BT22,Q8N511,Q96A33,P00846,P40855,Q9Y619,P23786,Q15526,Q5XKP0,P22695,P03886,O75381,Q9NSD9,Q13510,P50416,Q9Y5Y5,Q10713,P04062,P35670,O75306,O15118 22 |
| Abnormal tissue metabolite concentration 0.6067077454421774 2.1047919768027716 0.0353094198807584 1.0 0.4622748306440151 17 P40855,P50542,O75381,P07602,Q13608,O43681,P56589,P17900,Q9NZJ7,Q9Y5Y5 10 |
| Abnormality of the umbilical cord 0.7238411396803286 2.103979391822084 0.0353802447137634 1.0 0.4622748306440151 8 P16435,Q12768,O75844 3 |
| Abnormal neuron morphology 0.5249818891209235 2.101175363260918 0.0356255752399294 1.0 0.462626048026654 28 Q15165,Q99720,P35637,Q13510,P54886,Q92734,Q16637,Q92804,Q5THJ4 9 |
| Areflexia of lower limbs 0.5667324649025591 2.1006216770693853 0.0356741896251804 1.0 0.462626048026654 21 Q9H6K4,Q15120,Q9NR77,O60313,P54886,Q16637,Q15041,P07196 8 |
| Abnormal nerve conduction velocity 0.4985284820386785 2.0998525238063968 0.0357418162013052 1.0 0.462626048026654 38 O15269,Q15120,Q9NR77,P07602,Q9Y619,O43681,Q9UBB4,O95831,P48643,Q9NZJ7,P07196,Q99720,P31930 13 |
| Abnormal circulating cholesterol concentration 0.5084185831929119 2.0917721074998363 0.0364589066049463 1.0 0.4644271226090477 33 O43826,P07602,Q14739,P48643,Q15392,Q9NZJ7,Q9NVI7,Q8N511,Q15800 9 |
| Emg neuropathic changes 0.5364817571981109 2.088340315558976 0.0367671472065496 1.0 0.4644271226090477 24 Q9NR77,P07602,Q969X5,O60313,Q13510,O43681,Q9NZJ7,Q16637,O14773 9 |
| Abnormality of pulmonary circulation 0.5108693481295529 2.083502290575183 0.0372054631267964 1.0 0.4680748529739135 31 Q6NUK1,Q14108,P03886,Q9NZ08,P04062,O75844 6 |
| Microcytic anemia 0.7188200211670874 2.0793489732960473 0.0375852868846917 1.0 0.4682757054486186 8 Q9UBX3,Q9Y606,Q9BQT8 3 |
| Mitochondrial inheritance 0.8112504869861561 2.0737558827854343 0.0381019883384172 1.0 0.4708538396292215 6 P00846,P03886 2 |
| Cerebral inclusion bodies 0.6374023636922668 2.066356225890395 0.0387948560029838 1.0 0.4743431120449831 14 Q9Y287,P04062 2 |
| Hypertrophic cardiomyopathy 0.396210929760028 2.066297107446154 0.0388004343843813 1.0 0.4743431120449831 106 P54802,P21912,P10253,Q53H12,O60313,Q9Y4P3,O43676,Q9H061,O75792,P00846,Q7KZN9,Q9P0J0,Q86Y39,Q96CU9,Q9NPL8,Q15526,Q5XKP0,P49748,P13473,P03886,P50416,Q9Y6M9,O75306,P53701,Q9NVI7,Q9Y375 26 |
| Pericardial effusion 0.843341362621344 2.058399588278743 0.0395517912360798 1.0 0.4808119412293047 5 Q14108,P04062 2 |
| Periventricular white matter hyperintensities 0.7143613554748468 2.057419438563997 0.0396458969083812 1.0 0.4808119412293047 8 O75503,P07602,O43681,P17900,Q9NZJ7 5 |
| Neck muscle weakness 0.6061341569335803 2.0403308737523353 0.0413173817684997 1.0 0.4888752912889968 16 P46976,P07602,P35637,Q06210,Q9Y6X9,Q9NZJ7,P11047,Q99720,Q9Y5P6 9 |
| Progressive gait ataxia 0.6984268949116423 2.03749849478809 0.0416001126280316 1.0 0.4888752912889968 11 P07602,Q05086,P54886,O43681,Q9NZJ7,O14773,P00846 7 |
| Abnormal retinal vascular morphology 0.4374111260636574 2.037123233269219 0.0416376942086826 1.0 0.4888752912889968 54 P10619,Q86SQ9,O43826,P03886,P21964,P07602,Q96HR9,Q13510,O75306,P38435,P17900,Q9NZJ7,P00846 13 |
| Abnormal caudate nucleus morphology 0.6980542254002577 2.0355878397686125 0.0417917598879509 1.0 0.4888752912889968 11 Q13057,O75306,Q15526,O43819,P00846 5 |
| Cherry red spot of the macula 0.7154295584772647 2.03413916746791 0.0419375658840253 1.0 0.4888752912889968 9 P10619,P17900,P07602,Q13510 4 |
| Fetal ultrasound soft marker 0.584820876546802 2.031942329493124 0.0421594946055705 1.0 0.4891788687058568 18 P40855,P21281,P50542,O75381,Q12768,Q9Y5Y5,P16435 7 |
| Basal ganglia gliosis 0.7195339949203731 2.0259404245872057 0.0427708900458687 1.0 0.4912494217704801 10 P00846,O75306 2 |
| Abnormality of extrapyramidal motor function 0.4209270240406373 2.017424227104487 0.0436512611066213 1.0 0.4968673030580547 74 Q86SQ9,Q9Y263,Q9H6K4,P35637,O14949,P07602,Q9Y4P3,Q9UBB4,P17900,O75792,Q9NZJ7,Q6DKK2,P04062,P61457,Q99720,Q9BPX6,P31930,Q15043 18 |
| Decreased activity of mitochondrial complex iv 0.6108166480661743 2.0141942541958895 0.043989142714119 1.0 0.4968673030580547 15 Q70HW3,Q9Y2R0 2 |
| Unexplained fevers 0.7974367298675035 2.013068898190763 0.0441073816502717 1.0 0.4968673030580547 6 Q9NZJ7,P07602,Q9HC07 3 |
| Emg chronic denervation signs 0.6444632712834358 2.0092494031023076 0.0445106908249279 1.0 0.4968673030580547 13 P07602,O60313,Q969X5,O43681,Q13510,Q9NZJ7 6 |
| Motor neuron atrophy 0.544542615177789 2.008535676953112 0.0445863987948071 1.0 0.4968673030580547 22 Q15165,P35637,Q13510,Q92734,Q16637,Q99720 6 |
| Abnormality of the cerebrospinal fluid 0.3755468961429454 2.0077866011995225 0.0446659732602945 1.0 0.4968673030580547 143 Q9H490,O43676,O95202,O75792,P00846,P40855,Q6NUK1,Q7KZN9,Q9P0J0,Q86Y39,P13073,Q96CU9,Q9NPL8,Q8NI60,Q15392,P23786,P08236,Q15526,P16435,Q8TAA9,P03886,P21964,Q9NR77,P07602,O95831,Q9NZJ7,Q10713,O43505,P04062,Q9Y6M9,Q12768,O75306,P53701 33 |
| Increased csf lactate 0.434465364559342 2.005965705908425 0.0448599070275888 1.0 0.4968673030580547 54 Q7KZN9,Q9P0J0,P03886,Q9Y6M9,Q86Y39,P13073,Q96CU9,O75306,O43676,Q8NI60,Q15526,P00846 12 |
| Focal segmental glomerulosclerosis 0.5435397046615872 2.0013791453257603 0.0453515463627158 1.0 0.4995242787777401 22 Q8N1F7,P03886,Q14108,O43826,O95470 5 |
| Brushfield spots 0.7943599493029093 1.9994980580809243 0.0455544917674581 1.0 0.5004947671379021 6 P40855,P50542,O75381,P56589,Q9Y5Y5 5 |
| Focal t2 hyperintense basal ganglia lesion 0.5339386955352048 1.9985305457884035 0.0456591717388963 1.0 0.5004947671379021 23 Q7KZN9,Q9P0J0,P03886,O75306,Q96CU9,P00846 6 |
| Profound global developmental delay 0.6069373887068944 1.990820050874278 0.0465006741752707 1.0 0.5074534833525135 15 P40855,P50542,O75381,O60313,Q9H490,P56589,Q9Y5Y5 7 |
| Muscle spasm 0.4236535093068692 1.9906755417505044 0.0465165693073137 1.0 0.5074534833525135 60 Q15165,Q9H6K4,Q9NR77,Q12768,P35637,P00846,P54886,P23786,Q16637,P07196,P13473,P49748,O43175,P05023,P04062 15 |
| Polar cataract 0.8787207093096883 1.9814152577958664 0.0475447240827859 1.0 0.5158356069220088 4 Q7LGA3,P08670,Q9Y287 3 |
| Urinary urgency 0.6989886404582475 1.981392364706156 0.0475472893514654 1.0 0.5158356069220088 8 Q12768,P54886,P04062 3 |
| Reduced visual acuity 0.3743536357976546 1.9705555158327053 0.0487747390641113 1.0 0.5210870132180934 117 O43676,P17900,Q9H061,P00846,Q9H6K4,Q86Y39,Q96HR9,Q96CU9,P50897,Q9NZ08,Q15043,Q86SQ9,P03886,P07602,Q9NZJ7,Q10713,Q9Y6M9,O75306,P53701,Q9UHX1 20 |
| Retinal dystrophy 0.4267034345971813 1.9691043939157424 0.0489411043929908 1.0 0.5210870132180934 55 P40855,Q86SQ9,P50542,Q6P4Q7,O75381,P03886,Q9Y287,Q96HR9,P53701,P38435,P56589,Q9Y5Y5,Q10713,O43505,P00846 15 |
| Centrocecal scotoma 0.875554148195069 1.968388816384172 0.0490233176909127 1.0 0.5210870132180934 4 O75306,P00846,P03886 3 |
| Disproportionate short stature 0.5294527040769589 1.9656906448039573 0.0493343561281425 1.0 0.523173637079837 23 Q7RTS9,Q14739,Q15392,P10644,Q9UHX1,Q7LGA3,Q96DX4,O43909 8 |
| Abnormal electroretinogram 0.4945953695167879 1.950583361408416 0.0511066280762702 1.0 0.5407104965842044 31 Q53H12,Q96HR9,O43924,O14773,P50897,P00846 6 |
| Limited extraocular movements 0.6976242021439126 1.945895991569843 0.0516672345521118 1.0 0.5429891246762821 9 Q15526,P11047,Q3ZAQ7,O75306 4 |
| Dyspnea 0.394198611599404 1.9457961765982792 0.05167922809419 1.0 0.5429891246762821 100 P21281,P46976,P35637,P00846,O75844,Q9Y619,Q969X5,P23786,Q15526,P10644,P49748,Q15165,P03886,P07602,Q13510,O95831,Q9NZJ7,P04062,O75306,P53701,Q9UHX1,P51571,Q92734 23 |
| Central apnea 0.6914124861290969 1.9436869874232547 0.0519332087556183 1.0 0.5444032917830337 8 Q9NZJ7,Q10713,O76024,P07602 4 |
| Abnormality of lysosomal metabolism 0.8159995337779675 1.941604891842532 0.0521849502339406 1.0 0.5445386111367719 5 P07602,Q13510 2 |
| Abnormality of the mitochondrion 0.3978877048404302 1.939896682483308 0.052392247352041 1.0 0.545453534076044 96 P46976,P50542,Q9Y2R0,O43676,P00846,Q7KZN9,Q9P0J0,Q86Y39,P13073,Q96CU9,Q9UBX3,P23786,Q15526,P49748,P03886,Q70HW3,Q9Y6M9,O75306,O95298 19 |
| Abnormal saccadic eye movements 0.5250897756231526 1.933642191252372 0.0531571360170211 1.0 0.5509012278127642 23 Q9NW15,O75306,Q15526,O14773,Q10713,Q8IV08,Q5THJ4,P04062 8 |
| Weakness due to upper motor neuron dysfunction 0.367841884155157 1.927465373385292 0.0539216593449976 1.0 0.5575572939074581 139 P21912,P35637,O60313,P17900,O75792,Q9NP80,P00846,Q7KZN9,Q9P0J0,Q9H6K4,Q7RTS9,Q9Y619,P54886,Q96CU9,Q9UBX3,P48643,Q15526,Q5XKP0,Q9NZ08,P03886,P07602,Q13510,O95831,Q9NZJ7,P50416,Q15041,Q9Y5Y5,Q6DKK2,Q9BRK0,P04062,P11166,Q12768,O75306,O43681,P56589,Q92734 36 |
| Hypersplenism 0.685638109083563 1.9148446148337317 0.055512322825316 1.0 0.5650361430433954 8 P07602,Q14108,P04062 3 |
| Occipital encephalocele 0.8091402245540638 1.912093170143492 0.0558642447268025 1.0 0.5665608833086021 5 Q6ZXV5,Q10713,O43505 3 |
| Pedal edema 0.7376965835857574 1.9117289481040656 0.0559109693081381 1.0 0.5665608833086021 7 Q9Y263,Q14108,P04062 3 |
| Dilated cardiomyopathy 0.47208164358567 1.910550623814352 0.0560623548401024 1.0 0.5665608833086021 40 P03886,P42167,O75306,P53701,P23786,Q15526,P49748,P00846 8 |
| Inability to walk 0.4024579054486522 1.907001406645344 0.056520405339641 1.0 0.5687962183978389 88 P21912,P35637,P07196,Q99720,P00846,Q96N66,O75503,O43292,Q7RTS9,O14949,P54886,Q96CU9,Q15043,O15269,Q9NR77,Q13510,Q15041,P11166,Q9NVI7,Q92734,Q13409,O43909 22 |
| Osteoarthritis 0.6729942327668061 1.9061546055563203 0.0566301498141708 1.0 0.5687962183978389 11 Q14108,P04062,O75844 3 |
| Barrel shaped chest 0.8073596390279743 1.904418736418703 0.0568556709400294 1.0 0.5691307557624634 5 Q7RTS9,P04066 2 |
| Abnormal talus morphology 0.5468248818496945 1.9038607309224371 0.0569283245755993 1.0 0.5691307557624634 20 Q9Y263,Q969X5,Q9UHX1,P16435,Q96DX4,O43175,O75844 7 |
| Resting tremor 0.5545331364039287 1.902064717763788 0.0571626943287737 1.0 0.5691307557624634 19 Q9H6K4,P07602,Q9BPX6,P31930,P04062 5 |
| Abnormal visual fixation 0.7345186606159053 1.8968648756712911 0.057845774248687 1.0 0.5720415882117893 7 Q13510,P04062 2 |
| Abnormal peripheral nervous system morphology 0.3735895875825228 1.8967702809787717 0.0578582632898854 1.0 0.5720415882117893 152 Q7Z392,P50542,Q8IY17,Q15120,P21912,P35637,O60313,Q13608,Q9BQT8,P07196,Q9UER7,P11047,Q99720,P00846,O75340,P31930,P40855,O76024,O95140,Q9Y619,P54886,P48643,Q15526,Q16637,P10644,P51812,Q9BPX6,Q5THJ4,Q15043,O75381,P03886,O15269,Q9NR77,P07602,Q9BUF5,Q13510,Q9UBB4,O95831,Q9NZJ7,Q9Y5Y5,Q6DKK2,Q8IV08,Q9Y5P6,Q13057,O43681,P56589,Q9UHX1,Q9NVI7,Q92734 49 |
| Dyschromatopsia 0.6818798067585606 1.8960241959926345 0.0579568451214576 1.0 0.5720415882117893 8 Q9H061 1 |
| Abnormal csf metabolite level 0.4141056136238008 1.8844270425570864 0.0595072347838641 1.0 0.5767476213674443 60 Q7KZN9,Q9P0J0,P03886,P11166,Q9Y6M9,Q86Y39,P13073,Q9NPL8,Q96CU9,O43676,Q8NI60,O75792,Q15526,O95831,O75306,P00846 16 |
| Amyotrophic lateral sclerosis 0.5887924982071463 1.880674247863382 0.0600162448371281 1.0 0.5798179585959843 15 Q15165,Q99720,P35637 3 |
| Cardiovascular calcification 0.6838534732163966 1.8770566343212616 0.0605103321256934 1.0 0.5833554217614422 9 O75792,P04062,O75844 3 |
| Developmental regression 0.3570190079784655 1.87570754844078 0.0606954488333926 1.0 0.5839055837136505 127 Q7Z392,P50542,O14936,P21912,Q13608,Q9Y4P3,P17900,O75792,P55795,P00846,P40855,O76024,Q9NVH6,O75503,P13073,O95470,Q8NI60,Q15526,Q86VD7,Q9NZ08,Q15043,Q86SQ9,O75381,P03886,P07602,Q13510,O95831,Q9NZJ7,Q9Y5Y5,Q6PML9,Q13057,O75306,O43681,P56589,O14773,O95298 36 |
| Anencephaly 0.5872530960299304 1.8712680878101844 0.0613079314583797 1.0 0.5885561420004457 15 P21281,P21964,O75792,O43505,Q8TAA9 5 |
| Mitochondrial respiratory chain defects 0.7652772642586231 1.870268319881436 0.0614465665298977 1.0 0.588647780202382 6 O75306,P00846,P03886 3 |
| Abnormal conjunctiva morphology 0.4942088944910823 1.858861181024142 0.0630468176955518 1.0 0.6001951747217464 28 Q9NW15,P10619,Q9NSE4,Q99643,P06280,P21912,Q15437,Q13510,Q13608,Q14739,Q9NZ08,P04066 12 |
| Diffuse white matter abnormalities 0.6852456456566074 1.8552767613591832 0.0635567149469682 1.0 0.6003496701827465 10 P16278,O14936,O75306,Q15526,O43819,Q9Y5P6 6 |
| Abnormality of the biliary system 0.363519011892592 1.8544970910829532 0.0636680759342438 1.0 0.6003496701827465 119 P50542,Q9Y4P3,O95202,O75792,Q96A33,P40855,P00374,Q14739,P10644,Q5XKP0,P49748,Q14108,O75381,P21964,Q9NSD9,P22830,P07602,Q13510,Q9NZJ7,Q5HYI8,Q9Y5Y5,Q10713,P04062,P09601,P11166,P35670,Q15437,O43681,O15118,P04066 30 |
| Abnormal size of the clitoris 0.5470093500807983 1.8510540667544129 0.0641617752727867 1.0 0.6003496701827465 19 P40855,P50542,O75381,Q9Y619,P53701,Q9Y5Y5,P16435 7 |
| Macular degeneration 0.6395633589175358 1.8497490443812852 0.0643497281587248 1.0 0.6003496701827465 12 P51648,Q13510,P50897 3 |
| Abnormality of the clitoris 0.5220891593937608 1.847005682943882 0.0647463166571915 1.0 0.6003496701827465 22 P40855,P50542,O75381,Q9Y619,P53701,Q9Y5Y5,P16435 7 |
| Fetal distress 0.5040988390585314 1.8451676402798536 0.0650131562014941 1.0 0.6003496701827465 24 P03886,Q9Y6M9,Q86Y39,O75306,Q96CU9,O43676 6 |
| Abnormality of visual evoked potentials 0.5300503137147569 1.843783839117794 0.0652146488543903 1.0 0.6003496701827465 21 O75503,P07602,O60313,O43681,Q9NZJ7 5 |
| Megaloblastic anemia 0.6707807878371267 1.8402242178299608 0.0657353258756132 1.0 0.6003496701827465 8 P00374,O76024 2 |
| Abnormal circulating citrulline concentration 0.7920538425658039 1.8382225504341048 0.0660296181861461 1.0 0.6003496701827465 5 P00846,P03886 2 |
| Leber optic atrophy 0.9784810126582276 1.836912717170468 0.0662227816012985 1.0 0.6003496701827465 2 P00846 1 |
| Multiple glomerular cysts 0.9784810126582276 1.836912717170468 0.0662227816012985 1.0 0.6003496701827465 2 P00846 1 |
| Retinal arterial tortuosity 0.9784810126582276 1.836912717170468 0.0662227816012985 1.0 0.6003496701827465 2 P00846 1 |
| Low plasma citrulline 0.9784810126582276 1.836912717170468 0.0662227816012985 1.0 0.6003496701827465 2 P00846 1 |
| Parkinsonism 0.4842549023531862 1.8343236045456013 0.0666059722999816 1.0 0.6004397766956259 30 P35637,P07602,Q9NZJ7,P04062,P61457,Q99720,O96008,P31930,Q15043 9 |
| Abnormality of the alveolar ridges 0.7907107904264117 1.8323948040886375 0.0668926216211294 1.0 0.6014634527741303 5 O43924,Q15392 2 |
| Emg abnormality 0.4058532941804322 1.8302081924397369 0.0672188132280076 1.0 0.6014634527741303 72 Q9NW15,P46976,Q15120,O60313,Q06210,P07196,P42166,P11047,O75340,P42167,O95140,Q969X5,Q8NI60,Q16637,Q9H845,P13473,Q9Y606,O15269,Q9NR77,P07602,Q13510,Q8TB36,Q9NZJ7,P15924,P50402,Q9Y5P6,O43681,O14773,O43819,Q92734 30 |
| Anarthria 0.7198946871692999 1.828165627253741 0.0675246979852255 1.0 0.6014634527741303 7 Q99720,P54886 2 |
| Lower limb pain 0.7554808889786212 1.8263567752674603 0.0677965383170839 1.0 0.6014634527741303 6 O95140,O75569,P00846,P54886 4 |
| Abnormal iris pigmentation 0.5012162441866952 1.8232229563406528 0.0682696295341349 1.0 0.6044844867488455 24 P40855,P50542,O75381,O14617,Q8IY17,Q86YV9,Q05086,Q9Y4P3,P56589,P10644,Q9Y5Y5 11 |
| Temporal pattern 0.6659317208874336 1.815743747952068 0.0694096898324228 1.0 0.6110196633896678 8 Q9NR77,Q12768,P04062 3 |
| Increased bone mineral density 0.5086230597370756 1.811720509640668 0.0700293929256665 1.0 0.612823300707997 23 Q14108,P54802,Q13126,Q9Y4P3,Q15392,P04062,Q15043 7 |
| Impaired vibration sensation in the lower limbs 0.5766031106591226 1.8059332634077272 0.0709287645416718 1.0 0.612823300707997 15 Q15120,Q9NR77,Q12768,P54886,Q13608,P00846,Q9BRK0,O00400 8 |
| Paraparesis 0.4841949833855972 1.805202472802916 0.0710430041423211 1.0 0.612823300707997 29 Q9H6K4,P35637,Q9Y619,Q13510,O75792,Q5XKP0,Q9Y5Y5,Q6DKK2,P04062 9 |
| Demyelinating peripheral neuropathy 0.5681361239025768 1.80366704428972 0.0712835188525315 1.0 0.612823300707997 16 Q9NR77,P00846,P03886,P07196 4 |
| Psychosis 0.487276068406751 1.80344243748935 0.0713187579123011 1.0 0.612823300707997 28 O76024,Q9Y287,P03886,Q5JRX3,P54886,P10644,O15118,P51812 8 |
| Abnormal circulating lipid concentration 0.399960938455867 1.800928910789346 0.0717140854943194 1.0 0.612823300707997 79 P50542,Q9Y4P3,Q8N511,O75844,P40855,O43826,Q14739,O95470,P48643,Q15392,P23786,P49748,O75381,P22830,P07602,Q9NZJ7,P50416,Q9Y5Y5,Q15800,O75431,P56589,Q9NVI7 22 |
| Abnormal larynx physiology 0.6074552470604251 1.7992072675793451 0.0719859002610334 1.0 0.612823300707997 13 Q15165,P35637,Q13510 3 |
| Hyperkeratosis 0.4265243392232819 1.798237102022798 0.0721394423492471 1.0 0.612823300707997 51 P04066,O15269,P42167,P21912,Q9H4L7,Q15437,O75431,P16615,Q9NWM8,P51648,Q06136,P04062,O75844 13 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6612310963933707 1.791954219720017 0.0731402996439141 1.0 0.612823300707997 8 P00846,P03886 2 |
| Congenital hypothyroidism 0.8321722609246338 1.78842969359021 0.0737067092163106 1.0 0.6135661954051383 4 Q9Y263,P10644,P21281 3 |
| Abnormality of the tarsal bones 0.4913774588451959 1.7882505958455452 0.0737355866407929 1.0 0.6135661954051383 26 Q9Y263,Q7RTS9,Q969X5,Q14739,Q9UHX1,P16435,Q96DX4,O43175,O75844 9 |
| Respiratory failure 0.4039898949209762 1.7845135575783069 0.0743402537838768 1.0 0.6152382720569116 66 Q15165,Q70HW3,Q9NSD9,P07602,Q9Y619,Q13510,O75306,P53701,P23786,Q15526,Q16637,Q9BT22,Q5XKP0,Q9NZJ7 14 |
| Airway obstruction 0.5729133208889714 1.7831919524776891 0.0745550620280384 1.0 0.6152382720569116 15 P09601,P21964,O75844 3 |
| Limb pain 0.6492900335460299 1.782019491567018 0.0747460532279669 1.0 0.6152382720569116 11 O15269,O95140,P54886,O75569,P00846 5 |
| Scaphocephaly 0.829525845421708 1.7773653707108317 0.0755081445094301 1.0 0.6166753697961933 4 P40855 1 |
| Oromandibular dystonia 0.7777976508399783 1.7762084429057003 0.0756985671904875 1.0 0.6166753697961933 5 Q99720,P35637,Q15043 3 |
| Slowly progressive 0.4045782791069377 1.774849313795935 0.0759227712971084 1.0 0.6166753697961933 58 P46976,Q15120,P07196,Q99720,O75340,Q9P0J0,O95140,P54886,Q15526,Q16637,Q9NR77,O95831,P50402,Q8IV08,Q9BRK0,P05023,Q3ZAQ7,O14773,Q92734 19 |
| Abnormal corneal epithelium morphology 0.5713537883152846 1.7735638949103054 0.0761353142678129 1.0 0.6166753697961933 15 P51648,O75844 2 |
| Nephrotic syndrome 0.4921998644051474 1.7735490575883313 0.0761377704375563 1.0 0.6166753697961933 25 O95470,Q9BT22,Q14108,Q8NCH0 4 |
| Progressive muscle weakness 0.571058757770394 1.7717413925123278 0.0764374952225661 1.0 0.6180052805228753 15 P40855,Q7Z392,Q9Y606,P50542,O75381,P56589,Q9Y5Y5 7 |
| Slow decrease in visual acuity 0.6627437634421959 1.7705473963692957 0.0766359961167792 1.0 0.61851352618144 9 P00846,P03886 2 |
| Neck flexor weakness 0.8273766559433737 1.7683729673730737 0.076998572722517 1.0 0.6192477806255343 4 P46976,Q99720 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.6618540322707506 1.766032608521418 0.077390378337637 1.0 0.6202111163789543 9 Q9NZJ7,P07602,P04062 3 |
| Erlenmeyer flask deformity of the femurs 0.8257365004645363 1.761506272142026 0.0781527523575067 1.0 0.6238689718132732 4 P07602,P04062 2 |
| Cns demyelination 0.6233660565408368 1.760888668405642 0.0782572482186825 1.0 0.6238689718132732 12 P40855,P51648,P07602 3 |
| Neurofibrillary tangles 0.7740053368118494 1.7596556565659052 0.0784662086359118 1.0 0.6240474061548067 5 Q9Y287 1 |
| Arteriosclerosis 0.5842735717111915 1.7544823553253854 0.0793478907098694 1.0 0.6259972000640222 14 O15118,Q13510,O75844 3 |
| Abnormality of fontanelles 0.4386897949235159 1.7529712610501655 0.0796069402553967 1.0 0.6269562134103783 46 P40855,Q6NUK1,O75381,Q9Y619,P54886,Q9BT22,Q9Y5Y5,Q8NCH0,P51812,P16435,O75844 11 |
| Limited wrist movement 0.7719142251252635 1.750518411026706 0.080028900069802 1.0 0.6275707674461561 5 O75844 1 |
| Abnormality of retinal pigmentation 0.3990562951157579 1.7501186169308958 0.0800978479503646 1.0 0.6275707674461561 72 P40855,Q86SQ9,O76024,Q7KZN9,Q9P0J0,O75381,P03886,Q96HR9,O75306,Q96CU9,P53701,Q15526,Q9Y5Y5,P51812,P51648,P00846 16 |
| Skin nodule 0.5076356975440612 1.741601349519911 0.0815782250617116 1.0 0.6337252236480495 22 Q99643,O43826,P06280,P21912,P35637,Q13510,Q15437,P52732,P11802,Q9NZ08,P16615 11 |
| Loss of speech 0.5305234417625828 1.738342609109637 0.0821504626804849 1.0 0.633765382699145 19 P07602,P54886,P17900,O75792,Q9NZJ7,O15118,P50897 7 |
| Abnormal pulmonary thoracic imaging finding 0.5070636359642534 1.7374070202005234 0.0823153529906026 1.0 0.633765382699145 22 Q9NZ08,Q13510,P04062 3 |
| Infantile spasms 0.4724877533846174 1.7373332632732958 0.0823283634819984 1.0 0.633765382699145 30 Q9UBX3,P00846,P03886 3 |
| Telangiectasia 0.4611060157102385 1.7361388516590963 0.0825392861725 1.0 0.633765382699145 36 P10619,O43826,P03886,P21912,Q15437,O75306,Q14739,Q9UER7,P00846 9 |
| 3 methylglutaconic aciduria 0.6176586220001484 1.7293819947487044 0.083740750327667 1.0 0.6353707512382059 12 Q9NVI7,Q9H6K4,Q5XKP0 3 |
| Tremor 0.3732996870281936 1.7274676710463237 0.0840837064207786 1.0 0.6355289846572181 171 Q9NW15,Q15120,P35637,O60313,Q6P4A7,Q9Y4P3,O43924,O75792,P07196,Q99720,P00846,P31930,O76024,Q9H6K4,O75503,Q9NQZ5,O43292,P54886,Q8NI60,Q16637,Q9BPX6,Q5THJ4,Q15043,Q86SQ9,Q14108,P03886,Q9NR77,P07602,Q13510,Q9UBB4,O95831,Q9NZJ7,Q10713,P61457,Q6DKK2,Q9BRK0,P04062,Q9Y287,P11166,P35670,Q5JRX3,O75306,Q05086,O43681,O14773,Q92734 46 |
| Hemivertebrae 0.6172157256284293 1.7269328919514102 0.0841797163888069 1.0 0.6355289846572181 12 P16435,Q12768,Q9UHX1,Q9Y619 4 |
| Generalized myoclonic seizure 0.4513896954409018 1.722794638896311 0.0849256686181967 1.0 0.6384788200767182 40 Q86SQ9,P03886,P11166,P07602,Q9Y619,P00846,Q13510,Q9NZJ7,O43175,Q96N66,P04062 11 |
| Mixed demyelinating and axonal polyneuropathy 0.7654974172747329 1.7224364140904849 0.0849904920584578 1.0 0.6384788200767182 5 P03886,P07196 2 |
| Degeneration of the lateral corticospinal tracts 0.7320816414338248 1.720724145750104 0.0853008926960638 1.0 0.6389641207911981 6 Q12768,P35637 2 |
| Abscess 0.6967997505655051 1.7186951671645772 0.0856698925017425 1.0 0.6389641207911981 7 Q8TAA9 1 |
| Bile duct proliferation 0.8152088651906324 1.7173476159669707 0.0859156768063211 1.0 0.6389641207911981 4 Q9NSD9 1 |
| Extrapyramidal muscular rigidity 0.7311798009093983 1.7166324233496348 0.0860463544070095 1.0 0.6389641207911981 6 Q9BPX6,Q9H6K4 2 |
| Thickened nuchal skin fold 0.5928331673871423 1.7149067861392089 0.0863623182793023 1.0 0.6389641207911981 13 P40855,P21281,P50542,O75381,P56589,Q9Y5Y5 6 |
| Episodic respiratory distress 0.954171119820711 1.7132284265102622 0.0866705239059966 1.0 0.6389641207911981 3 P00846 1 |
| Raynaud phenomenon 0.7300155821375799 1.711348076359613 0.08701687628485 1.0 0.6389641207911981 6 O75792,O75844 2 |
| Deformed sella turcica 0.7626764252795566 1.710070451402707 0.0872528460815003 1.0 0.6389641207911981 5 Q7RTS9,P08236 2 |
| Aplasia hypoplasia involving the vertebral column 0.54499946038295 1.710024054817909 0.0872614249643122 1.0 0.6389641207911981 17 Q8TAA9,Q7RTS9,Q14739,O95831,P08236,P04066,O43909 7 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9477848101265822 1.708721657271384 0.0875025204627641 1.0 0.6389641207911981 2 O14773 1 |
| Neuronal loss in central nervous system 0.5917013527056321 1.708351432793548 0.087571153198209 1.0 0.6389641207911981 13 O15118,Q9NZJ7,P07602,P04062 4 |
| Generalized hyperkeratosis 0.7290874524714729 1.7071335640828764 0.0877972298698648 1.0 0.6389641207911981 6 Q99643,P21912,Q15437,P04066,O75844 5 |
| Blurred vision 0.8121574578641046 1.7045219499798054 0.0882836188922295 1.0 0.6389641207911981 4 P00846,P03886 2 |
| Posterior embryotoxon 0.5024809977339341 1.7037465688989477 0.0884284439525795 1.0 0.6389641207911981 22 P40855,Q8WYQ5,P50542,O75381,P21964,Q13608,Q9Y4P3,P53701,P56589,Q7LGA3,Q9Y5Y5 11 |
| Abnormal nervous system electrophysiology 0.3742944216731979 1.7009882866349146 0.0889451867273183 1.0 0.6389641207911981 176 P21281,Q9BQE5,P50542,Q15120,O60313,O95202,P07196,Q99720,Q96A33,Q13885,O43175,Q96N66,P31930,P40855,O75340,O75503,Q9NQZ5,O43292,Q9Y619,P13073,Q9UBX3,P48643,P50897,Q9BSJ2,Q9Y263,Q86SQ9,Q14108,P03886,O14617,P21964,Q9NR77,O75381,O15269,P07602,Q9UBB4,O95831,Q9NZJ7,Q9Y5Y5,P11166,Q05086,O43681,P48449,P56589,O14773,Q92734 45 |
| Clumsiness 0.5099304912591581 1.6999687875631102 0.0891367966746332 1.0 0.6389641207911981 21 O75503,P35670,Q9NR77,O00165,P07602,Q13510,Q05086,Q9NZJ7,O14773 9 |
| Abnormal placenta morphology 0.6927428269137301 1.6993452621980156 0.0892541490452003 1.0 0.6389641207911981 7 O75844 1 |
| Cardiac valve calcification 0.8104505726588502 1.6973425298310272 0.0896319209845053 1.0 0.6389641207911981 4 O75844 1 |
| Mitral valve calcification 0.8104505726588502 1.6973425298310272 0.0896319209845053 1.0 0.6389641207911981 4 O75844 1 |
| Insidious onset 0.7595758048641387 1.696464580634174 0.0897979324075388 1.0 0.6389641207911981 5 Q9NR77,Q12768,P04062 3 |
| Type ii lissencephaly 0.808747883560113 1.690177193394205 0.0909940602137076 1.0 0.6443057679728365 4 Q8NAT1,O43505 2 |
| Bilateral ptosis 0.5499527731141965 1.6882926810709895 0.0913550594839998 1.0 0.6449159178424795 16 P21281,Q9Y5P4,O60313,O75306,Q5T8D3,Q15526,P11047 7 |
| Fasciculations 0.4538284959745492 1.6882508363022874 0.0913630883610179 1.0 0.6449159178424795 37 P35637,Q969X5,P07602,Q13510,Q9BQT8,O95831,Q9NZJ7,Q16637,P07196,Q92734,Q5THJ4 11 |
| Enlarged ovaries 0.7570478302185637 1.6853607128346706 0.0919189986506114 1.0 0.6460969944626369 5 P16435,P21912,Q15437,P10644 4 |
| Abnormality of the vasculature of the eye 0.3923369267619128 1.6847835529749569 0.0920303392434931 1.0 0.6460969944626369 75 P10619,Q86SQ9,O43826,P03886,P21964,P07602,Q96HR9,Q13510,O75306,Q9Y4P3,P38435,P17900,Q9NZJ7,Q9NZ08,P00846,P04066 16 |
| Vascular tortuosity 0.9464898788504948 1.6831746675668946 0.092341283279838 1.0 0.6460969944626369 3 P00846 1 |
| Abnormal corpus striatum morphology 0.5407281137237474 1.6820912835418975 0.0925511403434633 1.0 0.6460969944626369 17 Q13057,O75306,O95831,O75792,Q15526,O43819,P00846 7 |
| Respiratory arrest 0.6885538304447575 1.6793288009130265 0.0930879809144722 1.0 0.6480490107626324 7 P23786,P49748 2 |
| Osteopenia 0.3937200365624267 1.678609861877372 0.0932281033026944 1.0 0.6480490107626324 70 Q96AY3,Q9NWM8,O43826,Q14108,Q9NSD9,O43292,P07602,Q13126,P54886,Q9H490,Q9Y4P3,Q9NZJ7,Q96DX4,O43175,P04062,O75844 16 |
| Palmar hyperhidrosis 0.939556962025316 1.674257745731319 0.0940799549621376 1.0 0.649332853851763 2 P07858 1 |
| Palmoplantar hyperhidrosis 0.939556962025316 1.674257745731319 0.0940799549621376 1.0 0.649332853851763 2 P07858 1 |
| Abnormal pulmonary interstitial morphology 0.4585093510813075 1.6713726576645276 0.0946480931205357 1.0 0.649332853851763 33 P09601,Q14108,Q9NSD9,Q13510,P04062 5 |
| Abnormal pupillary light reflex 0.8041865393431311 1.6709646352227197 0.0947286632931891 1.0 0.649332853851763 4 Q9NR77,P07602 2 |
| Slow pupillary light response 0.8041865393431311 1.6709646352227197 0.0947286632931891 1.0 0.649332853851763 4 Q9NR77,P07602 2 |
| Bruising susceptibility 0.455317838873684 1.670173563191151 0.0948850289414935 1.0 0.649332853851763 35 Q14108,O43826,P35670,Q13126,P38435,Q8NCH0,Q9NWM8,P04062 8 |
| Ureteral duplication 0.6861774523871781 1.6679572873667503 0.0953242060752839 1.0 0.649332853851763 7 P23786,O75844 2 |
| Endocarditis 0.7528147521599847 1.6667458839619032 0.0955649449662821 1.0 0.649332853851763 5 Q9NZ08,P04062 2 |
| Social and occupational deterioration 0.937658227848101 1.666299426814331 0.095653790848063 1.0 0.649332853851763 2 Q9BQE5 1 |
| Negativism 0.937658227848101 1.666299426814331 0.095653790848063 1.0 0.649332853851763 2 Q9BQE5 1 |
| Abnormal thoracic spine morphology 0.4638198724942565 1.6653283741241622 0.0958472606566325 1.0 0.649332853851763 30 P50542,O43909,O95831,Q9UHX1,P08236,P51648,P04062,O75844 8 |
| Impaired oropharyngeal swallow response 0.937025316455696 1.663646254546645 0.0961831426126194 1.0 0.649332853851763 2 Q9Y263 1 |
| Limb ataxia 0.4801698709536972 1.6615692906142334 0.0965991650189721 1.0 0.649332853851763 24 Q14108,Q9NR77,Q12768,Q9UBB4,O14773,P07196,Q10713,Q8IV08,Q5THJ4,P04062 10 |
| Nemaline bodies 0.8018719736091015 1.6612061188950693 0.0966720570910337 1.0 0.649332853851763 4 O43676 1 |
| Abnormal cerebral artery morphology 0.5530912714135288 1.660112717637782 0.0968917789391179 1.0 0.649332853851763 15 P38435,O75792,P10644,Q9NSD9 4 |
| Joint swelling 0.6841885409421833 1.6584308669177674 0.0972305306757521 1.0 0.649332853851763 7 P14174,Q13510,P35670 3 |
| Bilateral tonic clonic seizure with generalized onset 0.6405338855498329 1.6572457192507517 0.0974698066299615 1.0 0.649332853851763 9 Q13510,P11166,P04062 3 |
| Abnormality of the musculature of the lower limbs 0.4746143725814468 1.6561832058304895 0.0976847231891029 1.0 0.649332853851763 26 Q9NW15,Q8NAT1,O14979,Q9NR77,Q12768,P07196,P50402,P00846,Q9Y5P6 9 |
| Brittle hair 0.567407324280256 1.653291767121768 0.0982714977297647 1.0 0.6507693479275797 14 Q9NVI7,O75844 2 |
| Short lingual frenulum 0.7990598173038319 1.6493412761960915 0.0990777379822247 1.0 0.6547746162303548 4 O75844 1 |
| Abnormal gallbladder morphology 0.4571288704369518 1.6480750323005848 0.0993372750947345 1.0 0.6555397603936174 32 P40855,P22830,P21964,P07602,Q15437,Q9Y4P3,Q9NZJ7,Q96A33,P04062 9 |
| Punctate cataract 0.7977680574453635 1.643888124250774 0.1001993136718759 1.0 0.6583701301783204 4 Q9H6K4,P08670 2 |
| Psychomotor deterioration 0.6377853674784368 1.6431391410523588 0.1003541481569287 1.0 0.6584387274756766 9 P07602,P50897 2 |
| Peripheral axonal degeneration 0.3902786908213441 1.6417470696558474 0.1006424324832904 1.0 0.6593814542008682 71 Q7Z392,Q8IY17,O60313,Q9BQT8,P07196,P00846,O76024,O95140,P54886,P48643,Q15526,Q9BPX6,Q5THJ4,P03886,O15269,P07602,O95831,Q9NZJ7,Q6DKK2,Q8IV08,Q13057,Q9NVI7,Q92734 23 |
| Abnormal myocardium morphology 0.3657685207216343 1.6362625019899055 0.1017846604208889 1.0 0.6626579293828379 168 P46976,P50542,P54802,Q53H12,O60313,Q9Y4P3,O43676,Q9H061,Q9BT22,P00846,P40855,O76024,Q7KZN9,Q9P0J0,Q86Y39,P42167,Q96CU9,P23786,P08236,Q15526,Q5XKP0,Q9NZ08,P49748,P13473,Q14108,P03886,O75381,P50416,Q9Y5Y5,P04062,Q9Y6M9,O75306,P53701,Q9NVI7 34 |
| Paraplegia paraparesis 0.3847648823770354 1.6352926082853687 0.1019877223679919 1.0 0.6626579293828379 82 P35637,O60313,O75792,P00846,Q7KZN9,Q9P0J0,Q9H6K4,Q9Y619,P54886,Q96CU9,P48643,Q15526,Q5XKP0,Q13510,O95831,Q15041,Q9Y5Y5,Q6DKK2,Q9BRK0,P04062,P11166,Q12768,O75306,P56589,Q92734 25 |
| Hydrocele testis 0.7455467651118035 1.63472381090382 0.1021069586422047 1.0 0.6626579293828379 5 Q9UBX3 1 |
| Heparan sulfate excretion in urine 0.7954443858739799 1.6340739948091931 0.1022433145152192 1.0 0.6626579293828379 4 P08236 1 |
| Delusions 0.5333892119669646 1.6339230707804957 0.10227500478337 1.0 0.6626579293828379 17 Q9BQE5,P07602,P21964,P04062 4 |
| Abnormal placental size 0.7953747651032496 1.6337798545474458 0.1023050838345434 1.0 0.6626579293828379 4 O75844 1 |
| Hyperactive patellar reflex 0.6295028072492861 1.6299210516565834 0.1031181837594867 1.0 0.6632142707239206 8 Q15041,P54886,P13073 3 |
| Parkinsonism with favorable response to dopaminergic medication 0.62022013579662 1.6276049462587292 0.1036086796543294 1.0 0.6646264352698668 11 P07602,P31930,P04062 3 |
| Lacticaciduria 0.7115536447503068 1.627227421404005 0.1036888058907523 1.0 0.6646264352698668 6 P00846,P03886 2 |
| Delayed puberty 0.406608723608451 1.6268215431451594 0.103775004805295 1.0 0.6646264352698668 52 O76024,Q14108,O43826,Q9NVI7,P16435,Q15800,P04062,O75844 8 |
| Reduced tendon reflexes 0.3655070442215116 1.6236303937355947 0.1044547146899441 1.0 0.6650994632218866 169 Q7Z392,P21281,P50542,Q8IY17,P54802,Q15120,P10253,P35637,O60313,Q13608,P38606,Q9BQT8,Q9BT22,P07196,Q99720,P11047,P00846,O75340,Q9HC21,Q8NAT1,P40855,Q9H6K4,O95140,Q969X5,P54886,Q15526,Q16637,Q8TAA9,Q86SQ9,O75381,P03886,O15269,Q9NR77,P07602,Q13510,Q9UBB4,O95831,Q8TD16,Q9NZJ7,P50416,Q15041,Q9Y5Y5,Q10713,P50402,O43505,Q9Y5P6,P05023,P04062,Q96AY3,Q13057,O14979,O43681,P56589,O14653,Q92734,O43909 56 |
| Mucosal telangiectasiae 0.5986134510375728 1.623533295031634 0.10447545185851 1.0 0.6650994632218866 12 P10619,Q99643,P21912,Q15437,Q13608,Q14739 6 |
| Emg impaired neuromuscular transmission 0.7104052830505985 1.6219754663856942 0.1048086012989792 1.0 0.6650994632218866 6 P11047,O60313,Q9Y5P6,O75340 4 |
| Abnormality of central nervous system electrophysiology 0.3509858705281432 1.6201427305882672 0.1052016201884538 1.0 0.6653721139431474 144 P21281,Q9BQE5,P50542,O60313,O95202,P07196,Q96A33,O43175,O75340,Q96N66,P40855,O75503,Q9NQZ5,O43292,P13073,Q9UBX3,P50897,Q9BSJ2,Q9Y263,Q86SQ9,Q14108,P03886,O14617,P21964,O75381,P07602,Q9UBB4,Q9NZJ7,Q9Y5Y5,P11166,Q05086,P48449 32 |
| Hepatic failure 0.3981327382358653 1.6141574005045918 0.1064932894464727 1.0 0.6691638407392965 54 P40855,P50542,O75381,P03886,P22830,P35670,Q10713,Q9Y619,Q13510,P23786,O15118,P50416,Q9Y5Y5,Q9UER7,P00846,P04062 16 |
| Delayed cranial suture closure 0.4607343493424238 1.6130373702491254 0.1067363890979997 1.0 0.6691638407392965 29 P40855,P54886,Q8NCH0,P51812,P16435,O75844 6 |
| Arthritis 0.4320414491911474 1.6090135950720932 0.1076133689430822 1.0 0.6717002840273814 43 Q14108,O43826,P21964,P35670,Q13510,Q14739,O75792,Q9NZ08,P04062,O75844 10 |
| Increased serum lactate 0.3548939304438029 1.608919587038226 0.1076339259560767 1.0 0.6717002840273814 113 Q53H12,Q9NP80,P00846,Q7KZN9,Q9P0J0,Q86Y39,O14949,P13073,Q96CU9,Q9UBX3,Q8NI60,Q15526,Q5XKP0,Q9Y606,P22695,P03886,Q70HW3,O95831,O75208,Q9Y6M9,O75306,Q9NVI7,O95298 23 |
| Clonic seizure 0.706430534398712 1.6037801662103304 0.1087625179326039 1.0 0.6751100586855571 6 Q9NZJ7,P07602,O14936 3 |
| Macrogyria 0.7064002561071994 1.6036414598371929 0.1087931064208802 1.0 0.6751100586855571 6 Q8NAT1,Q15392,O43175,O43505 4 |
| Spastic paraplegia 0.4007841502684902 1.6028036656737106 0.1089780072906576 1.0 0.6751100586855571 53 Q7KZN9,Q9P0J0,P11166,Q12768,Q9Y619,O60313,Q96CU9,P54886,O95831,P48643,O75306,Q15526,Q15041,P56589,P00846,Q9BRK0,P04062 17 |
| Abnormal upper motor neuron morphology 0.6298385047117346 1.6022504266726632 0.1091002431312913 1.0 0.6751100586855571 9 Q99720,P54886 2 |
| Slow saccadic eye movements 0.6298271488563655 1.602191890787271 0.1091131827305385 1.0 0.6751100586855571 9 Q8IV08 1 |
| Abnormality of the distal phalanges of the toes 0.7872211638817898 1.5992949265242946 0.1097550863232745 1.0 0.6769662746347662 4 Q7LGA3,O75844 2 |
| Abnormality of epiphysis morphology 0.3889552560301909 1.5988291859710833 0.1098585621117822 1.0 0.6769662746347662 59 P50542,O95202,P38435,Q7LGA3,Q96DX4,P40855,Q7RTS9,Q9Y619,Q14739,P10644,P08236,Q9HC07,P51812,P16435,O75381,O00116,O95831,Q9Y5Y5,O43909 19 |
| Distal sensory impairment of all modalities 0.7365123362202916 1.5948147258850194 0.1107536730390985 1.0 0.6777570911833288 5 P48643,O15269 2 |
| Increased serum pyruvate 0.4479096369501191 1.5919407480255114 0.1113980186425864 1.0 0.680020033480849 34 P22695,P03886,Q70HW3,Q9Y6M9,Q86Y39,Q5JRX3,O75306,Q96CU9,Q9NPL8,O43676,O95831,Q9NP80,Q9Y375 13 |
| Urinary retention 0.7354048613970676 1.5899148323817247 0.1118540038364908 1.0 0.6809803170819734 5 Q8TAA9 1 |
| Abnormality of skull ossification 0.5918239313203904 1.5855408881886974 0.1128434945924896 1.0 0.6816186909103866 12 Q6NUK1,O75844,P54802 3 |
| Abnormal glycosylation 0.493664159877191 1.5822481390176246 0.1135929347888338 1.0 0.6816186909103866 21 P27708,P38606,Q9BT22,Q8N511,Q9H9E3,P51571,P46977,O75340,Q9H0U3 9 |
| Arthrogryposis multiplex congenita 0.4467946487825556 1.5822047441228118 0.1136028377140949 1.0 0.6816186909103866 34 Q96AY3,Q969X5,Q15392,Q8NCH0,O43175,P04062,O75844 7 |
| Persistent head lag 0.6680260166224603 1.5807186697018665 0.1139423776344019 1.0 0.6816186909103866 7 Q9NSD9 1 |
| Personality changes 0.5553508904142077 1.5803477417118004 0.1140272521599354 1.0 0.6816186909103866 14 P00403,P03886,Q8IY17,P35670,P49770,P42858,P04062 7 |
| Abnormality of the wrist 0.4564255083614753 1.5773864371076851 0.1147066342844296 1.0 0.6816186909103866 29 Q9H6K4,O43909,Q7RTS9,Q13510,P54886,O95831,P16435,Q96DX4,O75844 9 |
| Retinal dysplasia 0.6186682412190365 1.5740352653474745 0.1154792967829507 1.0 0.6830350692693452 8 Q8NAT1,P53701,O43924,Q10713,O43505 5 |
| Dyskinesia 0.3851657547914819 1.573869889092046 0.1155175324397834 1.0 0.6830350692693452 69 Q9P0J0,P03886,O75306,Q5BJH7,Q9UBX3,Q15526,P04062,Q9BPX6,P00846,Q96N66,Q15043 11 |
| Generalized clonic seizure 0.7316647290530325 1.5733550073274327 0.115636638920161 1.0 0.6830350692693452 5 Q9NZJ7,P07602,O14936 3 |
| Supranuclear gaze palsy 0.5154247054487624 1.5710478533312244 0.1161715338381801 1.0 0.6850735623840155 18 P07602,O15118,Q9NZJ7,Q99720,P04062 5 |
| Visual field defect 0.4141108035797157 1.568303735677646 0.1168102645353252 1.0 0.6850735623840155 48 P40855,P50542,Q9Y287,O75381,Q9H6K4,P03886,O60313,O75306,Q9H061,Q8WWV3,Q9Y5Y5,P00846 12 |
| Hallucinations 0.4198599352817826 1.5676978635127998 0.1169516605305316 1.0 0.6850735623840155 46 O76024,Q9BQE5,O75503,P21964,P35637,O60313,P07602,Q9NZJ7,P50897,Q6DKK2,P04062 11 |
| Abnormal morphology of the conjunctival vasculature 0.6229399676384253 1.5666355019750604 0.1171999145725792 1.0 0.6850735623840155 9 Q9NW15,P10619,P04066,Q13608 4 |
| Generalized edema 0.7792813741886769 1.565646940241433 0.1174312944004714 1.0 0.6850735623840155 4 Q9NSD9 1 |
| Hyperextensible skin 0.5882378994847721 1.5654215167130372 0.1174841065316447 1.0 0.6850735623840155 12 Q9UHX1,Q9NWM8,P04062,Q8NCH0 4 |
| Aortic valve calcification 0.9159881982022552 1.5634462814680812 0.1179476614906862 1.0 0.6860221127519506 3 O75844 1 |
| Mitral stenosis 0.9159881982022552 1.5634462814680812 0.1179476614906862 1.0 0.6860221127519506 3 O75844 1 |
| Peripheral hypermyelination 0.9123417721518984 1.560044960943889 0.1187492566351657 1.0 0.6898045990526827 2 Q9NR77 1 |
| Muscular hypotonia of the trunk 0.3796369629278896 1.558243368196709 0.1191755680031678 1.0 0.6905217154948481 80 O14936,Q16625,O60313,P17900,O75792,Q9HC21,Q96N66,Q6PJG6,Q5BJH7,O75880,Q5XKP0,Q9BSJ2,Q5THJ4,Q15043,Q86SQ9,O14617,Q9NSD9,Q9Y5P4,P07602,Q9NZJ7,Q96PU5,Q6PML9,P61457,O75306,Q6ZXV5,Q9NVI7,O95298,O43909 28 |
| Nephropathy 0.5038470895552736 1.5533353694619385 0.1203430345565064 1.0 0.6937600980754351 19 O76024,Q14108,P03886 3 |
| Progressive spasticity 0.5283663192076284 1.5496324271748518 0.1212297652340672 1.0 0.697989557408266 16 Q9Y263,P07602,O60313,P17900,Q9NZJ7,P51812 6 |
| Spinal muscular atrophy 0.6049534615553316 1.5456010487669765 0.1222009477731222 1.0 0.6985871785433249 11 Q99720,Q13510 2 |
| Duplication involving bones of the feet 0.4957372406140771 1.5448957592532226 0.1223714793936883 1.0 0.6985871785433249 20 Q9Y263,P21964,O95202,O43924,Q10713,O43909 6 |
| Primary adrenal insufficiency 0.5262982492099718 1.536256166251622 0.1244755655557259 1.0 0.7033563555565182 16 P40855,P50542,O75381,P56589,Q9Y5Y5,Q13423,P16435 7 |
| Neuronal loss in basal ganglia 0.6914249100646617 1.534858077688342 0.1248186930876695 1.0 0.7034453003368425 6 Q15526,O75306,O43819 3 |
| Photophobia 0.4360664884518302 1.529004175422828 0.1262634088167418 1.0 0.7034453003368425 37 Q86SQ9,Q9Y287,Q6P4Q7,Q86YV9,P07602,Q96HR9,P48449,Q9NZJ7,Q8WWV3,P04080,Q9NZ08,P51648 12 |
| Left ventricular systolic dysfunction 0.6886356444196969 1.5220082124044512 0.1280070229568257 1.0 0.7034453003368425 6 O75844 1 |
| Severe global developmental delay 0.3811829894307091 1.5210451001368162 0.1282485199449428 1.0 0.7034453003368425 67 P40855,P50542,O75381,O14617,P03886,Q9H490,O75792,Q9BT22,Q7LGA3,Q9Y5Y5,P51812,O43175,Q96A33,P00846,O75340,Q13409,O43909 17 |
| Elevated serum acid phosphatase 0.7686059236545739 1.5203086515948665 0.1284334206518764 1.0 0.7034453003368425 4 P07602 1 |
| Chorioretinal dysplasia 0.7190871053915048 1.5175354689614773 0.1291315454344344 1.0 0.7034453003368425 5 Q8NAT1,O43505,P53701 3 |
| Narrow pelvis bone 0.901582278481012 1.5148322809016057 0.1298148832821504 1.0 0.7034453003368425 2 Q96DX4 1 |
| Echolalia 0.606568885572964 1.51131595802949 0.1307079700584923 1.0 0.7053589863511539 8 Q9UHX1,O75787,Q9UJS0,P53701 4 |
| Limb girdle muscle weakness 0.4687797055206522 1.510679040205432 0.1308702450850383 1.0 0.7053999025860221 23 P46976,Q9Y5P6,P07602,O60313,Q13126,Q8TD16,Q9NZJ7,O75340 8 |
| Abnormality of the supraorbital ridges 0.4761937391716703 1.5086494434891955 0.1313883916756502 1.0 0.7073566305088134 22 P40855,Q6NUK1,P50542,O75381,Q9Y5Y5,P51812,P16435 7 |
| Decerebrate rigidity 0.7656348802815954 1.5076723679421802 0.1316384009498179 1.0 0.7078668730320399 4 Q9NZJ7,P07602 2 |
| Cerebral dysmyelination 0.6522317034320095 1.5042892605516418 0.1325069030970764 1.0 0.7083113767145923 7 Q9NZJ7,P07602 2 |
| Cytochrome c oxidase negative muscle fibers 0.6105630719755237 1.502469008364801 0.1329760259801911 1.0 0.7083113767145923 9 Q15526,Q9Y2R0 2 |
| Glucose intolerance 0.3564239279819762 1.5023550242685106 0.1330054451544395 1.0 0.7083113767145923 105 O60313,Q9Y4P3,O43676,O75792,P00846,O75844,O76024,Q86Y39,Q96HR9,Q96CU9,Q9NPL8,P10644,Q8TAA9,Q86SQ9,P03886,Q5HYI8,P61457,Q06136,Q9Y6M9,O75306,O75431 21 |
| Avascular necrosis 0.4752414571760862 1.5015205413382346 0.1332209778074051 1.0 0.7083113767145923 22 Q9Y619,Q14108,P04062,O75844 4 |
| Abnormality of femur morphology 0.3799115483942473 1.4999552635214906 0.1336259912488067 1.0 0.7083113767145923 64 P50542,Q7LGA3,Q96DX4,Q96A33,O75844,Q7RTS9,Q9Y619,Q14739,P51812,P16435,P07602,O00116,O95831,Q9NZJ7,P04062,Q96AY3,Q9UHX1,P04066,O43909 19 |
| Apnea 0.3744510258494738 1.4998543376527322 0.1336521383339404 1.0 0.7083113767145923 81 P50542,O43924,Q96A33,P00846,O76024,Q7KZN9,Q9P0J0,Q86Y39,Q96CU9,P23786,Q15526,P51812,Q9Y263,P03886,O14617,P07602,Q9NZJ7,Q10713,P04062,O75306 20 |
| Upper airway obstruction 0.7634844802132974 1.498521709729998 0.1339977564753178 1.0 0.7083113767145923 4 O75844 1 |
| Dysarthria 0.3479231459495235 1.4982213560116728 0.134075748834912 1.0 0.7083113767145923 152 P35637,Q9Y4P3,P07196,Q9NP80,P00846,O76024,Q7KZN9,Q9P0J0,Q9H6K4,O75503,O43292,P54886,Q96CU9,Q15526,Q5XKP0,P51648,Q5THJ4,Q14108,P07602,Q9UBB4,Q9NZJ7,Q9Y5Y5,Q10713,Q6DKK2,Q8IV08,P04062,P11166,P35670,O75306,O43681,O15118,O14773,Q13409 33 |
| Generalized onset motor seizure 0.3979172356324734 1.498120905396447 0.1341018405150638 1.0 0.7083113767145923 51 Q86SQ9,P03886,P11166,P07602,Q9Y619,P00846,Q13510,Q05086,Q9NZJ7,O43175,Q96N66,P04062 12 |
| Talipes calcaneovalgus 0.6831439403150079 1.496674923783923 0.1344778642193835 1.0 0.7083113767145923 6 Q9NR77 1 |
| Subcutaneous nodule 0.504162156525028 1.4942968904207097 0.1350980375451331 1.0 0.7083113767145923 18 Q99643,P06280,P21912,P35637,Q13510,Q15437,P52732,P11802,Q9NZ08 9 |
| Hypoplasia of the uterus 0.6029284572520226 1.4923842061484227 0.1355984530438969 1.0 0.7083113767145923 8 Q16740 1 |
| Tetraplegia tetraparesis 0.4173548127000026 1.4913477311706786 0.1358702234075595 1.0 0.7083113767145923 44 Q7RTS9,P21912,P35637,P54886,P07602,O43681,Q9UBX3,P17900,O95831,Q9NZJ7,Q92734,P00846 12 |
| Gait ataxia 0.3772482880097781 1.4894536970687804 0.1363679375815245 1.0 0.7083113767145923 72 P07196,P00846,O43292,P54886,Q5THJ4,Q14108,P03886,Q9NR77,P07602,Q9UBB4,Q9NZJ7,Q10713,Q8IV08,Q05086,O43681,O15118,Q9NVI7,O14773,Q13153 19 |
| Episodic tachypnea 0.6489869250107342 1.4885314489640578 0.1366107947607293 1.0 0.7083113767145923 7 O43924,P49748,P22695 3 |
| Multifocal cerebral white matter abnormalities 0.7122834856581781 1.487262011789981 0.1369456235418145 1.0 0.7083113767145923 5 O75792,Q9Y619 2 |
| Poor wound healing 0.6478539438566957 1.4830249568741476 0.1380677801729102 1.0 0.7118087145684416 7 P04062 1 |
| Visual loss 0.4113177418215467 1.4827265183904454 0.138147086051112 1.0 0.7118087145684416 46 P03886,O75503,P07602,O60313,O75306,P53701,P48449,Q9NZJ7,O14773,P50897,Q10713,Q92734,P00846 13 |
| Papule 0.4935077083872025 1.4808104676901537 0.1386570863523994 1.0 0.7123051863088625 19 Q15437,P38435,Q9NZ08,P16615,O75844 5 |
| Thoracic scoliosis 0.5526128531335887 1.4794335565356922 0.1390244771523876 1.0 0.7123051863088625 13 Q9UHX1,O75844 2 |
| Broad palm 0.5997902947337372 1.4760427304036876 0.1399324214872868 1.0 0.713165091716949 8 O95831,Q7RTS9,P51812,Q14739 4 |
| Chorea 0.3720372586017444 1.4759366831183307 0.1399608906338345 1.0 0.713165091716949 82 Q9P0J0,P03886,Q9H6K4,P11166,P07602,P35637,O75306,P17900,Q15526,Q9NZJ7,Q5XKP0,Q86VD7,Q99720,Q9BPX6,P00846,Q96N66 16 |
| Abnormal circulating carbohydrate concentration 0.4266362545161634 1.4758867806975589 0.1399742888347959 1.0 0.713165091716949 39 P22695,P03886,Q70HW3,Q9Y6M9,Q86Y39,Q5JRX3,O75306,Q96CU9,Q9NPL8,O43676,O95831,Q9NP80,Q9Y375 13 |
| Progressive cerebellar ataxia 0.4243852695164698 1.473053482195474 0.1407366152391549 1.0 0.7154503517174431 40 O76024,Q7KZN9,Q9P0J0,P35637,Q9Y619,O75306,Q96CU9,Q9UBB4,Q8NI60,Q15526,O14773,Q5THJ4 12 |
| Shuffling gait 0.5913682718801085 1.4721393853505826 0.140983241748102 1.0 0.7158505793918885 11 O75844 1 |
| Dilatation of the cerebral artery 0.6103024887626565 1.4715985632441382 0.141129313788006 1.0 0.7158505793918885 10 P38435,P10644,Q9NSD9 3 |
| Agenesis of cerebellar vermis 0.8911392405063285 1.4709386650863785 0.1413077049213034 1.0 0.7159590382679373 2 O43924 1 |
| Ambiguous genitalia 0.4916412213206287 1.46767254970074 0.1421931905971396 1.0 0.7178636109687431 19 P21281,P53701,Q15392,P16435,Q8TAA9 5 |
| Abnormal midbrain morphology 0.6767916115922854 1.4673180264946006 0.1422895621678557 1.0 0.7178636109687431 6 O43924,P04062 2 |
| Ichthyosis 0.4360595544310703 1.4669230688173551 0.1423969842660721 1.0 0.7178636109687431 32 P40855,P50542,O75381,O95470,P48449,Q9Y5Y5,P51648,O43175,Q15800,P04062 10 |
| Dermal atrophy 0.450766925246185 1.4656210516014496 0.142751552886428 1.0 0.7178636109687431 26 Q15392,Q9NWM8,Q8NCH0,O75844 4 |
| Elevated hepatic transaminase 0.3574973691009113 1.463526814660514 0.1433232818225305 1.0 0.7178636109687431 101 O75792,Q8N511,Q9UER7,P40855,O43826,Q9Y619,P23786,Q5XKP0,Q9HC07,P49748,Q86SQ9,P22695,Q9NSD9,Q13510,P50416,Q5HYI8,Q9Y5Y5,Q10713,P35670 19 |
| Thickened skin 0.3655493670977052 1.4630411897443076 0.1434561085093197 1.0 0.7178636109687431 91 Q7Z392,P50542,P21912,Q13608,P42166,O43175,O75844,P40855,P42167,Q14739,O95470,Q9NWM8,P51648,O75381,O15269,P00813,Q9Y5Y5,P50402,Q15800,Q06136,P04062,Q9H4L7,Q15437,O75431,P48449,P56589,P16615,P04066 28 |
| Spastic paraparesis 0.462513721353661 1.4626151250998565 0.1435727221937486 1.0 0.7178636109687431 23 Q9H6K4,P21912,Q9Y619,O75792,Q5XKP0,Q9Y5Y5,Q6DKK2,P04062 8 |
| Cardiac conduction abnormality 0.4364029702354628 1.4610236860270067 0.1440089413387539 1.0 0.7192460391614337 31 P46976,P03886,O75306,P23786,Q15526,P0DP25,P49748,P00846 8 |
| Abnormal metabolic brain imaging by mrs 0.5065984706916641 1.4562956278466288 0.1453109136612291 1.0 0.7192460391614337 17 O75306,P07602,P03886,Q15526 4 |
| Waddling gait 0.4493438202709198 1.4541567665423063 0.145902848218437 1.0 0.7192460391614337 26 Q7Z392,Q9Y5P6,Q9NUQ7,Q7RTS9,Q13510,Q06210,Q8TD16,Q4J6C6,Q5T8D3,P50402,P07196,P11047,O75340 13 |
| Response to drugs acting on neuromuscular transmission 0.7526915769474385 1.4525389080811508 0.146351818822894 1.0 0.7192460391614337 4 P11047,Q9Y5P6,O75340 3 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.7526915769474385 1.4525389080811508 0.146351818822894 1.0 0.7192460391614337 4 P11047,Q9Y5P6,O75340 3 |
| Leukodystrophy 0.3761503632056444 1.451671349939336 0.1465930091983041 1.0 0.7192460391614337 58 Q7KZN9,Q9P0J0,P03886,Q9Y6M9,Q86Y39,P07602,O75306,Q9NPL8,Q96CU9,O43676,O43681,O75792,Q15526,Q9NZJ7,Q9Y5Y5,Q9Y375 16 |
| Spondyloepimetaphyseal dysplasia 0.5943549385874886 1.4476927982849972 0.1477029849424953 1.0 0.7226669649546983 8 Q96HY6,Q7RTS9,O95831,Q96L58,Q96DX4 5 |
| Retinal vascular tortuosity 0.4971738793562966 1.4464295708949877 0.148056752765189 1.0 0.7231529908780263 18 O75306,P00846,P03886,P21964 4 |
| Thin skin 0.4501908005954317 1.443214866080632 0.1489599530348904 1.0 0.7249278397429031 25 Q9H4L7,Q13126,Q9Y619,P54886,Q6ZXV5,P10644,Q96PU5,O75844 8 |
| Hypoketotic hypoglycemia 0.6386852147184964 1.4383834426607731 0.1503252878991081 1.0 0.7286741222869447 7 P23786,P50416 2 |
| Color vision defect 0.5178525451361292 1.4377301118920338 0.1505106458002962 1.0 0.7286741222869447 15 Q6P4Q7,Q9H6K4,O60313,Q9H061,Q8WWV3 5 |
| Abnormality of the larynx 0.4118556540016947 1.437666392264836 0.1505287331566451 1.0 0.7286741222869447 44 Q15165,P21964,P07602,P35637,Q13510,Q9UHX1,Q9NZJ7,P16435,O43909 9 |
| Frequent falls 0.4161219829955232 1.4344992401862164 0.1514298457628951 1.0 0.7291658887843734 42 Q9NR77,O95140,Q7RTS9,P21912,P07602,Q13510,O43681,Q9NZJ7,P00846,O75340,Q5THJ4,P04062 12 |
| Posterior polar cataract 0.8797468354430376 1.4230607592428497 0.1547185425512722 1.0 0.7368337175541274 2 Q9Y287 1 |
| Paraplegia 0.3772488935853924 1.4227807782434077 0.1547997152229943 1.0 0.7368337175541274 55 Q7KZN9,Q9P0J0,P11166,Q12768,Q9Y619,O60313,Q96CU9,P54886,O95831,P48643,O75306,Q15526,Q15041,P56589,P00846,Q9BRK0,P04062 17 |
| Gastric ulcer 0.8800110652908237 1.4216678270806609 0.155122704197498 1.0 0.7371357547283872 3 P04062 1 |
| Brisk reflexes 0.4494549907042475 1.421417127879508 0.1551955300465139 1.0 0.7371357547283872 24 Q5JRX3,P35637,P54886,Q8NI60,Q10713,Q99720,Q9BSJ2 7 |
| Cloverleaf skull 0.8791139240506325 1.4204014684588573 0.1554908355514408 1.0 0.7371357547283872 2 P16435 1 |
| Increased intracranial pressure 0.4933524065857143 1.4201784497499577 0.15555573586985 1.0 0.7371357547283872 18 P07602,Q15437,Q9NZJ7,P10644,Q9NZ08 5 |
| Gingival fibromatosis 0.8787974683544298 1.4190718557354989 0.1558780681803335 1.0 0.7371357547283872 2 Q15392 1 |
| Optic nerve dysplasia 0.8781645569620247 1.4164126980647194 0.1566547082789997 1.0 0.7383771651305622 2 O43505 1 |
| Morphological abnormality of the corticospinal tract 0.5144618268479371 1.4161102662161649 0.1567432227733298 1.0 0.7383771651305622 15 Q12768,P35637,P00846,Q9Y4P3 4 |
| Elevated circulating long chain fatty acid concentration 0.87844254510921 1.4154791899284331 0.156928045672164 1.0 0.7384849208101836 3 P40855,P23786 2 |
| Onion bulb formation 0.6337548340710294 1.4143214785144405 0.1572675333467659 1.0 0.7393180178151701 7 Q9NR77,O95140,Q8TB36,P07196 4 |
| Spastic diplegia 0.4475534798879346 1.4063998628408618 0.1596054209945769 1.0 0.7420144360754551 24 P07602,Q9NZJ7,Q99720,P51648 4 |
| Disproportionate short limb short stature 0.4990606396850255 1.4058469516282437 0.1597695765643558 1.0 0.7420144360754551 17 Q7RTS9,Q14739,Q15392,P10644,Q7LGA3 5 |
| Peripheral cyanosis 0.6316199968690807 1.40389103111119 0.160351300836004 1.0 0.7420144360754551 7 P04066,P51812 2 |
| Hiatus hernia 0.5859657971730788 1.4038265935083605 0.1603704928877671 1.0 0.7420144360754551 8 Q8NCH0 1 |
| Shoulder girdle muscle weakness 0.5786717636696925 1.4030965569451848 0.1605880477571526 1.0 0.7420144360754551 11 Q8TD16,P46976,Q9NZJ7,P07602 4 |
| Hyperventilation 0.6620620096166259 1.399041409811246 0.1618005656862 1.0 0.7420144360754551 6 P00846 1 |
| Abnormal brain lactate level by mrs 0.5772721318011578 1.3954639882763429 0.1628759669944846 1.0 0.7420144360754551 11 O75306,Q15526,P03886 3 |
| Increased circulating acth level 0.6913131268209074 1.3936475937116817 0.1634240488553802 1.0 0.7420144360754551 5 P16435 1 |
| Increased circulating antibody level 0.5040048928447521 1.3911165866602109 0.1641900759203418 1.0 0.7420144360754551 16 Q14108,P04062 2 |
| Fibrous tissue neoplasm 0.4806150453212393 1.3897918512768983 0.1645920932739426 1.0 0.7420144360754551 19 P21281,Q13126,Q15437,Q15392,P10644,Q96DX4 6 |
| Zonular cataract 0.5571018703415959 1.38929595255928 0.164742774156013 1.0 0.7420144360754551 12 O76024,P08670,Q8WWV3,Q9H6K4 4 |
| Distal sensory loss of all modalities 0.7371149991808228 1.386035465958834 0.1657360741470435 1.0 0.7420144360754551 4 P48643 1 |
| Distal amyotrophy 0.3739979152042087 1.386030742594863 0.1657375163705374 1.0 0.7420144360754551 55 Q13057,O15269,Q15120,O95140,P21912,P35637,Q9NR77,Q13510,Q9BQT8,P48643,Q8TD16,Q92734,Q9NVI7,P07196,Q99720,Q5THJ4 16 |
| Urinary glycosaminoglycan excretion 0.6275977092454109 1.384220274404579 0.166291017169232 1.0 0.7420144360754551 7 P08236,P04066 2 |
| Abnormal intraocular pressure 0.689135020568018 1.3839010846032878 0.166388744629149 1.0 0.7420144360754551 5 Q15043,Q8NCH0 2 |
| Babinski sign 0.3614221801051321 1.3832678288344884 0.1665827585836443 1.0 0.7420144360754551 88 P21912,P35637,O60313,P07196,Q99720,P00846,Q9H6K4,O95140,P54886,P48643,P51812,Q5THJ4,Q15043,Q9Y263,Q9NR77,P07602,Q9UBB4,O95831,Q9NZJ7,Q6DKK2,Q9BRK0,P11166,Q12768,O43681,O14773,Q92734 26 |
| Calcification of the aorta 0.6889549521279523 1.3830951487520602 0.1666356930032289 1.0 0.7420144360754551 5 P04062 1 |
| Abnormal macular morphology 0.4405451064050049 1.383064121659121 0.1666452055800342 1.0 0.7420144360754551 26 Q96HR9,Q13510,P50897,P51648,P04062 5 |
| J shaped sella turcica 0.736384401811361 1.382912840925232 0.1666915924922007 1.0 0.7420144360754551 4 P08236 1 |
| Dysmetria 0.3699395183335513 1.3804200731839171 0.1674573432216304 1.0 0.7420144360754551 57 O75503,O43292,Q5JRX3,Q12768,O60313,Q6P4A7,Q9NPL8,Q9Y4P3,Q9UBB4,Q6DKK2,O14773,Q9Y5Y5,Q10713,Q9NP80,Q8IV08 15 |
| Chronic fatigue 0.5812617904468778 1.3791745956354242 0.1678409287713771 1.0 0.7420144360754551 8 Q9NZJ7,P07602,Q5HYI8 3 |
| Xerostomia 0.5216936657691259 1.3742373489838773 0.1693680092177085 1.0 0.7442019498849294 14 Q15165,P35637,Q14739 3 |
| Ankylosis 0.686155030761615 1.3705602067406857 0.1705120949471898 1.0 0.7454694684080969 5 O75844 1 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4389390382143225 1.370049441690118 0.1706714684787464 1.0 0.7454694684080969 26 P22695,Q9P0J0,P03886,Q5XKP0,Q9NP80,P00846,O75208 7 |
| Atlantoaxial abnormality 0.6860292839033514 1.369997110072627 0.1706878037636889 1.0 0.7454694684080969 5 Q9NWM8,Q8NCH0 2 |
| Secondary microcephaly 0.3672608794464279 1.368311615238078 0.1712145565732945 1.0 0.7456909054195063 72 O14936,P38606,O75792,Q9BT22,P55795,Q9HC21,P00374,Q6PJG6,Q5KU26,Q86Y39,Q96CU9,Q5XKP0,Q9HC07,P50897,Q9BSJ2,Q15043,Q9Y263,Q9Y5P4,O75208,P11166,Q05086,Q9UHX1,O43909 23 |
| Abnormal pelvis bone morphology 0.8657803102247541 1.3655140703692992 0.1720915338217632 1.0 0.7457713141511989 3 P16435,Q96DX4 2 |
| Hypoplasia of the odontoid process 0.5782376098274793 1.3633062002568148 0.1727860287736637 1.0 0.7457713141511989 8 Q7RTS9,O95831,P08236,Q9H9E3,O43909 5 |
| Abnormality of the glenoid fossa 0.8655063291139236 1.3632545662371112 0.1728022955163515 1.0 0.7457713141511989 2 Q9Y619 1 |
| Prominent calcaneus 0.8655063291139234 1.3632545662371105 0.1728022955163517 1.0 0.7457713141511989 2 Q96DX4 1 |
| Atlantoaxial instability 0.8655063291139233 1.3632545662371105 0.1728022955163517 1.0 0.7457713141511989 2 Q9NWM8 1 |
| Abnormal circulating pyruvate family amino acid concentration 0.4420909585273329 1.3631720505450962 0.1728282935749776 1.0 0.7457713141511989 24 P22695,Q9P0J0,P03886,Q5XKP0,Q9NP80,P00846,O75208 7 |
| Emphysema 0.5890993945982999 1.3607191423065368 0.1736024628827643 1.0 0.7468181422126468 10 Q03518,Q9NSD9 2 |
| Adult onset 0.3674626669672715 1.3599206573923537 0.1738550331837647 1.0 0.746998096125416 68 O76024,Q14566,Q9NQZ5,P07602,Q8IV08,P38435,Q9NZJ7,Q16637,O15118,Q5THJ4,P31930,P04062 12 |
| Metaphyseal cupping 0.8641975308641978 1.359268420064006 0.1740615472451077 1.0 0.746998096125416 3 O95831,P50542 2 |
| Abnormal vascular physiology 0.3784290992490603 1.3585905388949286 0.1742763748790932 1.0 0.746998096125416 53 Q6NUK1,Q14108,O43826,P03886,Q9Y4P3,O75792,Q9NZ08,Q9NWM8,P04062,O75844 10 |
| Inappropriate behavior 0.4918579148494266 1.3574656506541505 0.1746333005327185 1.0 0.746998096125416 17 P35670,P07602,P17900,Q9NZJ7,O43175 5 |
| Abnormal iliac wing morphology 0.5701866552635054 1.3567633332450555 0.1748564215369283 1.0 0.746998096125416 11 O95831,Q8TAA9,P50542,P51812 4 |
| Neurogenic bladder 0.5759661147043035 1.351377495499326 0.1765745389772433 1.0 0.746998096125416 8 O76024,Q8TAA9 2 |
| Mild short stature 0.8626582278481005 1.351302499917093 0.1765985515596781 1.0 0.746998096125416 2 Q14739 1 |
| Congenital craniofacial dysostosis 0.8626582278481006 1.351302499917093 0.1765985515596781 1.0 0.746998096125416 2 Q6NUK1 1 |
| Bacterial endocarditis 0.8626582278481005 1.351302499917093 0.1765985515596781 1.0 0.746998096125416 2 P04062 1 |
| Aortic valve stenosis 0.5758065268057063 1.3505391149831376 0.1768431156880001 1.0 0.746998096125416 8 P04062,O75844 2 |
| Calcinosis 0.6813844446709868 1.3491893290228028 0.177276161408201 1.0 0.7471158003894609 5 O75844 1 |
| Dysphagia 0.3265348305135433 1.3471406234721894 0.1779349467990796 1.0 0.7481636818536693 132 P35637,O60313,Q99720,P00846,O76024,P54886,Q14739,Q15526,Q9Y263,Q14108,P03886,Q9NR77,P07602,Q13510,Q9UBB4,Q9NZJ7,Q9Y5Y5,P04062,P35670,O75306,Q05086,Q9UHX1,O15118,Q92734 24 |
| Deep palmar crease 0.5864506337360261 1.34680839443614 0.1780419504640462 1.0 0.7481636818536693 10 P21281,Q6NUK1 2 |
| Leg muscle stiffness 0.7277188987845363 1.3458575030076825 0.1783484763976655 1.0 0.7481636818536693 4 P00846 1 |
| Stillbirth 0.568047447728412 1.3450594833832197 0.1786060260637763 1.0 0.7481636818536693 11 P16435,O43175,P04062,O75844 4 |
| Congenital contracture 0.4106852871220405 1.3445321040323217 0.1787763821572612 1.0 0.7481636818536693 40 Q96AY3,Q969X5,Q15392,Q8NCH0,Q96A33,O43175,P04062,O75844 8 |
| Loss of subcutaneous adipose tissue in limbs 0.727342882106543 1.3442488991596966 0.1788679139439015 1.0 0.7481636818536693 4 O75844 1 |
| Abnormal protein glycosylation 0.4898331665279678 1.3438359476199335 0.1790014423031476 1.0 0.7481636818536693 17 P38606,Q9BT22,Q8N511,Q9H9E3,P51571,O75340,Q9H0U3 7 |
| Abnormality of the plantar skin of foot 0.4154722703778098 1.341908307003715 0.1796257279630932 1.0 0.7482895093907133 37 P21281,Q7Z392,Q9Y263,Q99643,P42167,P21912,Q15437,Q9NPE3,O75431,P07858,P15924,P42166,P16615,Q06136,Q9H4L7 15 |
| Cyanosis 0.4815824791592186 1.3390120274504078 0.1805667574507323 1.0 0.7491028192338627 18 O75792,O75844,P04066,P51812 4 |
| Absent thumbnail 0.7260701100901326 1.338803597014271 0.1806346194981363 1.0 0.7491028192338627 4 P21281,O14936 2 |
| Long toe 0.5790759954810817 1.3378262562486092 0.1809530806949115 1.0 0.7491028192338627 9 P23786,Q9UHX1 2 |
| Ventricular arrhythmia 0.4164782961497115 1.3377456834072996 0.1809793535067299 1.0 0.7491028192338627 36 P46976,P03886,P21912,P42892,O75306,P23786,P13473,P0DP25,P49748,P00846 10 |
| Bulbar palsy 0.5846944418504055 1.3375785451302002 0.1810338621978304 1.0 0.7491028192338627 10 Q9Y263,P35637 2 |
| Hyperconvex nail 0.5732450365555112 1.337077139953722 0.1811974582488926 1.0 0.7491028192338627 8 P42892,Q9Y619,P51812 3 |
| Venous insufficiency 0.5727659266905833 1.3345580500676508 0.1820210356125478 1.0 0.7502634399245303 8 P04062 1 |
| Transposition of the great arteries 0.6776464536904816 1.332433248129564 0.1827178627301182 1.0 0.7502634399245303 5 O75844 1 |
| Wide cranial sutures 0.6169830064351443 1.3322000877027669 0.1827944477535423 1.0 0.7502634399245303 7 O75844 1 |
| Heterogeneous 0.4050979965027252 1.32866262079138 0.1839593022272376 1.0 0.7513608849378688 42 Q9BQE5,P03886,P21964,Q9NR77,Q9Y619,P07196,P00846,O75844 8 |
| Abnormal larynx morphology 0.429094673946198 1.3273890904744503 0.1843800066327796 1.0 0.7513608849378688 28 P21964,P07602,Q13510,Q9UHX1,Q9NZJ7,P16435,O43909 7 |
| Falls 0.571136827585928 1.3259899099926775 0.1848430395598721 1.0 0.7519861569078025 8 P21912,Q5T8D3,P54886,Q9BQT8 4 |
| Incoordination 0.3636721689660057 1.3245356519683218 0.1853252106912148 1.0 0.7519861569078025 72 P21912,P00846,O75340,O75503,Q7RTS9,Q9Y619,Q5THJ4,Q9NR77,P07602,Q13510,Q9UBB4,Q9NZJ7,Q10713,Q6DKK2,P04062,P35670,O00165,Q05086,O43681,O14773 20 |
| Skeletal dysplasia 0.4045223396353153 1.323116529549078 0.1857966285602725 1.0 0.7519861569078025 42 P10619,P40855,P50542,Q07864,O75381,Q7RTS9,Q13608,Q14739,O95831,P56589,Q96L58,Q9HC07,Q9Y5Y5,Q96DX4,P51648,O43909 16 |
| Atrophy degeneration involving the corticospinal tracts 0.5262621029370772 1.3226154136658534 0.1859633057329719 1.0 0.7519861569078025 13 Q12768,P35637,P00846,Q9Y4P3 4 |
| Abnormality of female external genitalia 0.4083375761828959 1.322400231501919 0.1860349118226636 1.0 0.7519861569078025 40 P40855,Q6NUK1,P50542,O75381,Q9Y619,P53701,Q15392,P10644,Q9Y5Y5,P16435 10 |
| Abnormality of chorioretinal pigmentation 0.7211062214890466 1.3175616897832874 0.1876504172742001 1.0 0.7565588643472986 4 Q9Y619 1 |
| Genetic anticipation 0.8537974683544297 1.314145545653414 0.1887972294808015 1.0 0.7585157413501807 2 P54886 1 |
| Hypokinesia 0.5619240245012894 1.3115100119421546 0.1896855134311599 1.0 0.760637739896223 11 P13473,P04062 2 |
| Abnormality of krebs cycle metabolism 0.6728044049809965 1.3107152925595025 0.189953970107731 1.0 0.760637739896223 5 P00846 1 |
| Macrovesicular hepatic steatosis 0.5680923824748032 1.3099674543109572 0.19020684582095 1.0 0.760637739896223 8 P23786,Q5XKP0,O75431 3 |
| Titubation 0.5732277982523416 1.3070541134528997 0.191194333901419 1.0 0.7631781672981738 9 Q99720,Q5JRX3,Q6PJG6,P35637 4 |
| Dysostosis multiplex 0.5669945948148472 1.3041867390788928 0.1921699201567022 1.0 0.7645529751067693 8 P10619,P08236,P04066 3 |
| Rod cone dystrophy 0.4025157693515562 1.303770335862254 0.1923118996595316 1.0 0.7645529751067693 42 Q86SQ9,P40855,O75381,P03886,Q96HR9,P38435,Q9Y5Y5,P00846 8 |
| Hand polydactyly 0.4167407776976478 1.298683056492376 0.1940527211454581 1.0 0.7694612247159035 32 Q9Y263,P21964,Q12768,O95202,O43924,Q9UHX1,Q10713,O43909 8 |
| Impaired vibration sensation at ankles 0.8493670886075941 1.2955854213365272 0.1951183544459551 1.0 0.7697505642401846 2 P54886 1 |
| Arm dystonia 0.7154129276576827 1.2931908030887158 0.1959450757301264 1.0 0.7697505642401846 4 Q99720 1 |
| Abnormal placental membrane morphology 0.8487341772151891 1.292935113795071 0.1960335017043541 1.0 0.7697505642401846 2 P21281 1 |
| Ectodermal dysplasia 0.8487341772151891 1.292935113795071 0.1960335017043541 1.0 0.7697505642401846 2 P21281 1 |
| Progressive spastic paraplegia 0.4271518485223638 1.2917753171491462 0.1964349656165651 1.0 0.7697505642401846 27 Q7KZN9,Q9P0J0,Q12768,O75306,Q96CU9,Q15526,P00846 7 |
| Splenomegaly 0.3531256612735748 1.290469520763485 0.1968876877454315 1.0 0.7697505642401846 90 P21281,P54802,O75792,Q9BT22,Q96A33,Q14739,Q15392,P08236,Q9NZ08,Q14108,O14617,P21964,P07602,Q13510,Q9NZJ7,Q10713,P04062,P11166,P35670,Q15437,O15118,P04066 22 |
| Contractures of the joints of the upper limbs 0.3599114929661592 1.2885775564267548 0.1975449901331316 1.0 0.7697505642401846 75 P50542,Q96AY3,O43909,Q9NR77,P42892,P35637,Q9Y619,P54886,P23786,Q15392,Q7LGA3,P07196,P16435,Q99720,O43175,O75844 16 |
| Choreoathetosis 0.4155446428526941 1.288208358457031 0.1976734431805984 1.0 0.7697505642401846 32 Q9P0J0,P00846,Q9H6K4 3 |
| Mania 0.488164591308041 1.2870357321888697 0.1980818339994119 1.0 0.7697505642401846 16 P16615,P03886,P21964 3 |
| Myoclonic absence seizure 0.846835443037974 1.2849860076285669 0.198797173664049 1.0 0.7697505642401846 2 Q86SQ9 1 |
| Foot acroosteolysis 0.7131719413551947 1.283596368144861 0.1992832211856585 1.0 0.7697505642401846 4 O75844 1 |
| Osteolysis involving bones of the feet 0.7131719413551947 1.283596368144861 0.1992832211856585 1.0 0.7697505642401846 4 O75844 1 |
| Motor seizure 0.3436664163144493 1.2830808684877355 0.1994637456469505 1.0 0.7697505642401846 102 O43175,P00846,O75340,Q96N66,O75503,O43292,Q9Y619,P13073,Q9UBX3,Q5XKP0,Q86SQ9,P03886,O14617,Q9UPT5,P07602,Q13510,Q9UBB4,Q9NZJ7,Q8WWV3,P04062,P11166,Q05086,O43909 23 |
| Lower limb muscle weakness 0.4022930044258111 1.2827426484321138 0.199582252891745 1.0 0.7697505642401846 41 O43909,Q15120,O95140,Q9NR77,Q12768,Q969X5,P54886,Q13510,P07196,Q92734,P00846,Q9Y5P6,O00400 13 |
| Fair hair 0.7129677891541939 1.28272228892925 0.199589388197682 1.0 0.7697505642401846 4 P10644 1 |
| Atrophy degeneration involving the spinal cord 0.5629112685357557 1.28267048766473 0.1996075436005611 1.0 0.7697505642401846 8 P48643,P54886,Q8IY17,P07196 4 |
| Osteolysis 0.4529030078549536 1.282204786407908 0.1997708176143362 1.0 0.7697505642401846 21 Q14108,O75844 2 |
| Abnormal cardiac ventricular function 0.4528372476897147 1.281715720352545 0.1999423882704971 1.0 0.7697505642401846 21 P03886,P21912,Q9UER7,P49748,O75844 5 |
| Tritanomaly 0.8445115729073435 1.2816187958905412 0.1999764033894286 1.0 0.7697505642401846 3 Q9H6K4 1 |
| Anomalous trichromacy 0.8445115729073435 1.2816187958905412 0.1999764033894286 1.0 0.7697505642401846 3 Q9H6K4 1 |
| Abnormal elasticity of skin 0.3647443557298443 1.2809508117154176 0.2002109437692303 1.0 0.7697505642401846 55 P21281,Q6NUK1,Q13126,P54886,Q9Y4P3,P38435,Q9UHX1,P10644,Q8NCH0,P51812,Q9NWM8,O43175,P04062,O75844 14 |
| Exercise induced muscle cramps 0.6366406264401192 1.2806418914507307 0.2003194787151467 1.0 0.7697505642401846 6 P23786 1 |
| Vegetative state 0.8442545109211745 1.2806054792956545 0.2003322744613163 1.0 0.7697505642401846 3 Q9NZJ7,P07602 2 |
| Neoplasm of the gallbladder 0.8442545109211745 1.2806054792956545 0.2003322744613163 1.0 0.7697505642401846 3 Q9NZJ7,P07602 2 |
| Biliary tract neoplasm 0.8442545109211745 1.2806054792956545 0.2003322744613163 1.0 0.7697505642401846 3 Q9NZJ7,P07602 2 |
| Progressive peripheral neuropathy 0.8442545109211745 1.2806054792956545 0.2003322744613163 1.0 0.7697505642401846 3 Q9NZJ7,P07602 2 |
| Hyporeflexia 0.323274259446228 1.280278388937054 0.2004472453938233 1.0 0.7697505642401846 121 Q7Z392,P21281,P50542,Q8IY17,P54802,Q15120,P35637,Q13608,P38606,P07196,P11047,Q99720,P00846,Q9HC21,Q8NAT1,O95140,Q16637,Q86SQ9,P03886,O15269,Q9NR77,P07602,Q9UBB4,O95831,Q8TD16,Q9NZJ7,Q10713,O43505,P05023,P04062,Q13057,O14979,O43681,O43909 34 |
| Abnormal motor nerve conduction velocity 0.4803757287387437 1.2800138113290809 0.2005402785783638 1.0 0.7697505642401846 17 Q9NR77,P48643,P07196,Q99720,P31930 5 |
| Contractures of the large joints 0.843937955049064 1.2793576746950692 0.2007711312932256 1.0 0.7699885270791497 3 Q9Y263,P50542 2 |
| Multiple lipomas 0.6654205883553865 1.2775731671059771 0.2013999667396251 1.0 0.7708841047459396 5 O95140,Q8TAA9 2 |
| Carpal bone hypoplasia 0.6355953034360067 1.2757610909087318 0.2020399856936432 1.0 0.7716099956139139 6 Q96DX4,P54886 2 |
| Aplasia hypoplasia involving the carpal bones 0.6355953034360067 1.2757610909087318 0.2020399856936432 1.0 0.7716099956139139 6 Q96DX4,P54886 2 |
| Polyhydramnios 0.3952834589771361 1.274724174295196 0.2024068872536302 1.0 0.7719283766113659 44 P21281,P21964,Q70HW3,O43909,Q9NVI7,O43175,P04062,O75844 8 |
| Saccadic oscillation 0.8426751683744501 1.2743803629083206 0.2025286482553121 1.0 0.7719283766113659 3 P04062 1 |
| Postaxial hand polydactyly 0.5722322298895803 1.2719387172240573 0.2033948940934811 1.0 0.7719283766113659 10 Q9Y263,Q10713,O43924 3 |
| Ventricular hypertrophy 0.4104878361741962 1.271759370721266 0.2034586287426245 1.0 0.7719283766113659 35 P46976,Q6NUK1,O75208,P03886,P21912,P10253,O75431,P23786,O75844 9 |
| Thin ribs 0.5544406066685069 1.2704195842437922 0.2039352108389738 1.0 0.7727464769520549 11 O95831,Q9Y619,O75844 3 |
| Hypermetric saccades 0.7099197449683863 1.2696715645661645 0.2042016457735145 1.0 0.7727464769520549 4 O14773,Q5THJ4 2 |
| Adducted thumb 0.428135974852758 1.2663545822647986 0.2053861635748337 1.0 0.7735612532223634 25 Q86XL3,P42892,P54886,Q9Y4P3,Q8NCH0 5 |
| Chronic pulmonary obstruction 0.559612252332733 1.265271333588154 0.2057740789821769 1.0 0.7735612532223634 8 P09601 1 |
| Abnormal metatarsal morphology 0.4277593930457986 1.2633181295137772 0.2064748734016817 1.0 0.7744562715600456 25 Q8NAT1,P50542,Q7RTS9,Q96S52,O43505,O95202,Q15392,P08236,P10644,Q96L58,P16435,Q96DX4 12 |
| Adrenal hyperplasia 0.6622172764863099 1.2631878662430618 0.2065216724160121 1.0 0.7744562715600456 5 P21281,P16435 2 |
| Leukoencephalopathy 0.3493428592900161 1.2569948045311523 0.2087555169038351 1.0 0.7756436056915867 92 O60313,O43676,P17900,O95202,O75503,Q86Y39,P54886,Q96CU9,Q9NPL8,Q15526,Q9Y263,P03886,P07602,O95831,Q9NZJ7,Q9Y6M9,O75306,O43681,Q9UHX1,P51571,Q13153,O95298 22 |
| Lower limb amyotrophy 0.4834220520600303 1.2557410718387314 0.209209862903565 1.0 0.7756436056915867 16 Q15120,O95140,Q9NR77,Q9NVI7,P07196,Q92734,O00400 7 |
| Abnormal anterior horn cell morphology 0.6013510142852753 1.2553375973574998 0.209356232130818 1.0 0.7756436056915867 7 Q16637,Q13510 2 |
| Limb muscle weakness 0.354090780646439 1.2537880483096009 0.2099190544586961 1.0 0.7756436056915867 83 P46976,Q15120,Q9BQT8,P07196,Q99720,P00846,O95140,Q7RTS9,Q969X5,P54886,Q14739,Q16637,O00400,O15269,Q9NR77,Q13126,Q13510,P50402,Q9Y5P6,P05023,P35670,Q12768,Q92734,O43909 24 |
| Cavernous hemangioma 0.7060449974465206 1.2530803923516454 0.2101764510436023 1.0 0.7756436056915867 4 P21912,Q15437 2 |
| Bilateral tonic clonic seizure with focal onset 0.8372256380268424 1.2529081364545045 0.2102391404502261 1.0 0.7756436056915867 3 P07602 1 |
| Congenital sensorineural hearing impairment 0.659894941811028 1.2527565851028204 0.2102943060026572 1.0 0.7756436056915867 5 Q16740 1 |
| Tongue fasciculations 0.5331365795304946 1.2522017987636211 0.2104963407414313 1.0 0.7756436056915867 12 Q16637,Q13510,Q9BQT8 3 |
| Constriction of peripheral visual field 0.4422328148513275 1.25211940828468 0.2105263565874373 1.0 0.7756436056915867 22 P40855,P50542,O75381,O60313,Q9H061,Q9Y5Y5,P00846 7 |
| Abnormal cellular phenotype 0.3517396128824213 1.2476380106778835 0.2121636519104999 1.0 0.7756436056915867 188 P46976,P50542,Q9Y2R0,P21912,P35637,O43676,P00846,O75844,Q7KZN9,Q9P0J0,O75503,Q86Y39,P13073,Q96CU9,Q9NPL8,Q9UBX3,Q14739,P23786,Q15526,P49748,Q14108,P03886,Q70HW3,P21964,P07602,Q13510,Q4J6C6,Q9NZJ7,P04062,P09601,P11166,Q9Y6M9,Q15437,O75306,O14773,O95298,Q9Y375,O43909 38 |
| Renal tubular dysfunction 0.3966859974544847 1.2474440164497465 0.2122347355897975 1.0 0.7756436056915867 42 P40855,P03886,P35670,Q86Y39,Q9Y6M9,Q9BRT2,Q96CU9,Q9NPL8,O43676,O75306,Q15526,P50416 12 |
| Varicose veins 0.5997227779164496 1.2473166688054576 0.2122814078734869 1.0 0.7756436056915867 7 P04062 1 |
| Athetosis 0.5132244946636618 1.2444159433743422 0.2133465180745575 1.0 0.7776659651638548 13 O14949,P54886,Q96CU9 3 |
| Nuclear cataract 0.7036373434438403 1.2427711245594986 0.2139521859553168 1.0 0.7786288650887828 4 O76024 1 |
| Emg axonal abnormality 0.8357594936708852 1.2386770787061103 0.2154651105014491 1.0 0.7832196016414416 2 Q92734 1 |
| Abnormal peripheral action potential amplitude 0.5540144617201536 1.235719033548656 0.2165630200443362 1.0 0.7850288447560086 8 Q92734,O15269,P31930 3 |
| Abnormality of the amniotic fluid 0.3538818499501866 1.2348046570889808 0.2169032137304869 1.0 0.7850288447560086 80 P21281,Q6NUK1,Q70HW3,Q9NSD9,P21964,O43909,Q969X5,P23786,Q9UHX1,Q9NVI7,Q9BT22,Q7LGA3,P16435,O43175,O75844,P04062 16 |
| Abnormal ureter morphology 0.4232010965728428 1.2265256711157897 0.2200009209698132 1.0 0.7898281183824071 25 P23786,Q8TAA9,O76024,O75844 4 |
| Fatigable weakness of bulbar muscles 0.4977731694717202 1.2258595508470755 0.2202515326712224 1.0 0.7898281183824071 14 Q15165,Q92804,P35637 3 |
| Vascular calcification 0.6247533503874687 1.2250958647884564 0.220539103054032 1.0 0.7898281183824071 6 P04062 1 |
| Abnormality of glycolipid metabolism 0.5946740733949153 1.2224307943711032 0.2215447599255373 1.0 0.7903357415147689 7 P17900,Q9NZJ7,P07602 3 |
| Progressive sensorineural hearing impairment 0.5568311373924921 1.220522405189652 0.2222669013401483 1.0 0.7903357415147689 9 O76024,P03886 2 |
| Abnormality of alkaline phosphatase level 0.464462431858912 1.220198856378914 0.2223895003075213 1.0 0.7903357415147689 18 Q96AY3,Q96S52,Q14739,Q92643,Q8N511,Q96A33 6 |
| Hemiparesis 0.4643297409489714 1.2192749561055558 0.2227398506880762 1.0 0.7903357415147689 18 Q9NZ08,Q9NP80,O60313,P03886 4 |
| Aortic regurgitation 0.4378933632298494 1.219045819166767 0.2228268023569268 1.0 0.7903357415147689 22 Q6ZXV5,Q9UHX1,Q96PU5,Q9NZ08,O75844 5 |
| Intestinal pseudo obstruction 0.5620188293653052 1.21797673201388 0.2232328149762774 1.0 0.7909311679430969 10 P03886 1 |
| Aplasia hypoplasia of the skin 0.3583854543075642 1.2083718031994644 0.2269042806334684 1.0 0.799853307220729 55 P21281,Q9H4L7,Q13126,Q9Y619,P54886,P53701,O95202,Q6ZXV5,Q15392,P10644,Q96PU5,Q8NCH0,Q9NWM8,O75844 14 |
| Hypoplasia of teeth 0.4627373591132593 1.2081842949332178 0.2269763813265617 1.0 0.799853307220729 18 O75844 1 |
| Metatarsus valgus 0.8281645569620245 1.2069926184667468 0.2274349867168439 1.0 0.799853307220729 2 O43505 1 |
| Calvarial hyperostosis 0.6488767344477431 1.2032484209901713 0.2288802022669522 1.0 0.799853307220729 5 Q15043 1 |
| Abnormality of the basal ganglia 0.3496697989344338 1.202740904661785 0.2290765995294301 1.0 0.799853307220729 84 Q7KZN9,Q9P0J0,P03886,O60313,O75306,Q96CU9,O95831,Q8NI60,P23786,Q15526,O75792,Q9BPX6,P00846,Q96N66,P04062 15 |
| Urinary bladder sphincter dysfunction 0.5466308051173749 1.196689257025902 0.2314276958801713 1.0 0.8014982261281283 8 Q9NR77,Q12768 2 |
| Cold induced muscle cramps 0.8229312233022572 1.196657486638473 0.2314400838981196 1.0 0.8014982261281283 3 P23786 1 |
| Skin plaque 0.6471698753016158 1.1955775557440067 0.231861454374239 1.0 0.8014982261281283 5 Q06136 1 |
| Cardiomegaly 0.4004660025833369 1.192139442712776 0.2332065735049975 1.0 0.8017313929787346 36 P54802,Q9Y4P3,Q14739,O75792,P23786,P50416,O95298,P49748,P13473,P04066,P04062 11 |
| Breech presentation 0.5444496284184616 1.185150385512869 0.2359579925377177 1.0 0.8029615268447708 8 O60313,Q9Y619 2 |
| Absent brainstem auditory responses 0.8195491450048102 1.183367737451853 0.2366634377785974 1.0 0.8037551667654189 3 P07196 1 |
| Areflexia 0.3470836122196341 1.1816023150788546 0.2373635345189222 1.0 0.8051237580523604 86 P50542,Q8IY17,Q15120,P10253,O60313,Q9BQT8,Q06210,Q9Y6X9,Q9BT22,P07196,P11047,O75340,Q8NAT1,Q9H6K4,O95140,Q969X5,P54886,Q15526,Q16637,O15269,Q9NR77,Q13510,Q8TB36,O95831,Q8TD16,Q15041,O43505,Q9Y5P6,P05023,P56589,Q92734,O43819,O75477,O14653,O75787 35 |
| Abnormal pericardium morphology 0.555075716287083 1.1812215103451 0.2375147382787339 1.0 0.8051237580523604 10 Q9NZ08,Q14108,P04062 3 |
| Pigmentary retinopathy 0.3813621761393488 1.180874057895336 0.2376527584075607 1.0 0.8051237580523604 46 O76024,Q7KZN9,Q9P0J0,P03886,O75306,Q96CU9,P53701,Q15526,P00846 9 |
| Middle age onset 0.5377779055347438 1.1786229982872436 0.2385483296340615 1.0 0.8057632467639414 11 P07602,P31930 2 |
| Arrhinencephaly 0.5200194524062898 1.1767285142053832 0.2393038830182265 1.0 0.8073120948087432 12 P21281,P21964,Q8TAA9 3 |
| Juvenile onset 0.3911850753185581 1.1763228925613851 0.2394658711542934 1.0 0.8073120948087432 41 Q14566,P16278,Q8IY17,P54802,Q9NR77,Q13510,Q06210,P48643,O15118,O14773,P49770,P07196,P04080,P50402,Q9H0U3 15 |
| Abnormality of pain sensation 0.4169719573777525 1.176142351330287 0.2395379965518047 1.0 0.8073120948087432 25 O15269,Q9NR77,P54886,O95831,P48643,P07196,Q8NCH0 7 |
| Pes cavus 0.3412290535875703 1.1742385104450783 0.2402995048531999 1.0 0.8077683732796684 95 Q9NW15,P21281,P50542,Q15120,O60313,Q7LGA3,P07196,Q96DX4,Q99720,Q9H6K4,O95140,P54886,Q14739,Q8NI60,P13473,Q5THJ4,O15269,Q9NR77,O95831,Q10713,Q9BRK0,P05023,P04062,Q12768 24 |
| Abnormal vertebral morphology 0.3306228565404602 1.1740326503978278 0.2403819479255504 1.0 0.8077683732796684 108 P21281,P54802,Q9Y4P3,O95202,Q96DX4,P10619,Q6NUK1,Q7RTS9,Q9Y619,Q14739,P08236,P51812,P16435,Q8TAA9,Q14108,O95831,Q8NCH0,Q10713,P04062,Q96AY3,Q12768,Q9UHX1,P04066,O43909 24 |
| Fatigable weakness of swallowing muscles 0.5193021052554898 1.1725939888735488 0.2409586611145369 1.0 0.8083997434082781 12 Q15165,P35637 2 |
| Irregular menstruation 0.6132666296841868 1.1713546843288438 0.2414562391495778 1.0 0.8083997434082781 6 O43826 1 |
| Distal lower limb muscle weakness 0.449901308753647 1.1707635312659932 0.2416938404140327 1.0 0.8086015497344016 19 Q9NR77,O95140,P07196,P00846,Q9Y5P6,O43909 6 |
| Equinovarus deformity 0.6415305745712192 1.1702338444061386 0.2419068763924159 1.0 0.8087209357400416 5 P21281,Q9NR77 2 |
| Foam cells 0.6127318021687935 1.1688514426004746 0.2424634900483724 1.0 0.8096731689405287 6 Q13510 1 |
| Corneal dystrophy 0.6124964157882603 1.1677497047333951 0.242907741014535 1.0 0.8096731689405287 6 Q53H12 1 |
| Acquired abnormal hair pattern 0.6408564678946088 1.16720446902809 0.2431278065665385 1.0 0.8096731689405287 5 O75844 1 |
| Abnormality of the palm 0.3299053551391737 1.1635180146119626 0.2446193934436613 1.0 0.8118372882846403 108 P21281,P50542,P21912,O95202,P07858,Q96DX4,P40855,Q6NUK1,P42167,Q7RTS9,Q9Y619,Q14739,P10644,P51812,P16435,Q9Y263,O75381,O95831,Q9Y5Y5,Q8NCH0,Q06136,Q9H4L7,Q15437,O75431,P56589,Q9UHX1,P16615,O43909 28 |
| Severe short stature 0.4164767652899897 1.158982179101524 0.2464634491884074 1.0 0.8147708335103429 24 P10619,Q96HY6,Q07864,Q8IY17,P16278,P21912,Q7RTS9,Q9Y619,P54886,P53701,Q15392,Q96L58 12 |
| Global brain atrophy 0.4363495857146848 1.1587076198183155 0.2465753838254984 1.0 0.8147708335103429 21 P07602,O75306,Q9UHX1,Q9NZJ7,Q15526 5 |
| Thoracic kyphosis 0.4622385829021437 1.1569840646491534 0.2472788709594267 1.0 0.8154991983436479 17 O95831,Q9UHX1,P08236,P51648,P04062,O43909 6 |
| Spastic paraparetic gait 0.6833138967078131 1.155789292655214 0.2477673537482914 1.0 0.815753886709176 4 Q15041,Q15043 2 |
| Abnormality of the phalanges of the toes 0.4860814154306131 1.1529012894619235 0.2489509027629939 1.0 0.8174987632261896 14 P21281,Q6DKJ4,O14936,P09471,O75431,Q7LGA3,O75844 7 |
| External ear malformation 0.4616134307908357 1.1527311159934048 0.2490207656363656 1.0 0.8174987632261896 17 P40855,P50542,O75381,Q13608,P56589,Q9Y5Y5,Q8NCH0 7 |
| Glomerulopathy 0.5496206734417679 1.1523100175804049 0.2491937019483341 1.0 0.8174987632261896 10 Q14108 1 |
| Abnormal proportion of cd4 positive t cells 0.5380591811804392 1.151323819409481 0.2495990414018367 1.0 0.8182398481613053 8 O75787,Q9H0U3,Q96BN8,O43909 4 |
| Subcutaneous hemorrhage 0.378372057867023 1.150473592998264 0.2499488644399787 1.0 0.8187980041999304 46 Q14108,O43826,P21964,P35670,Q13126,P38435,Q8NCH0,Q9NWM8,P04062 9 |
| Abnormality of the gallbladder 0.3901474670727441 1.150029442538402 0.250131744906596 1.0 0.8188088706203002 40 P40855,P22830,P21964,P07602,Q15437,Q9Y4P3,O95202,Q9NZJ7,Q96A33,P04066,P04062 11 |
| Abnormal exteroceptive sensation 0.362500310989373 1.148829177372573 0.2506264256443418 1.0 0.8194239960330191 52 Q9H6K4,O15269,P54802,Q9NR77,P07602,P54886,O95831,P48643,Q9NZJ7,P07196,Q8NCH0,Q9NZ08 12 |
| Increased muscle lipid content 0.5320026414848149 1.146726790557115 0.2514945544633602 1.0 0.8203255853740504 11 Q8NI60,P23786 2 |
| Abnormal greater sciatic notch morphology 0.6078895326268441 1.1461849905942896 0.2517186169469871 1.0 0.8203648287361835 6 P08236,O43909 2 |
| Abnormality of the spleen 0.3121352007842092 1.1426833208797618 0.2531700972774624 1.0 0.8203648287361835 123 P21281,P54802,O95202,O75792,Q9BT22,Q96A33,P10619,Q15392,P08236,Q9NZ08,Q14108,O14617,P21964,P07602,Q13510,Q9NZJ7,Q5HYI8,Q10713,P04062,P35670,O15118,P04066 22 |
| Abnormal thalamic size 0.8091168091168088 1.1424329528964248 0.2532741003943792 1.0 0.8203648287361835 3 Q9UPT5,P11166 2 |
| Overtubulated long bones 0.8088765859985173 1.141491516170308 0.2536654404644778 1.0 0.8203648287361835 3 O75844 1 |
| Abnormal delivery 0.4456903267917287 1.1405452182960472 0.2540592252768403 1.0 0.8210362565957761 19 Q9Y619,O60313,O75844 3 |
| Esophageal varix 0.6345800904624377 1.1390026656274106 0.2547020423909347 1.0 0.8214128660172304 5 P04062,Q9NSD9 2 |
| Upper limb spasticity 0.5351542969294485 1.135939316019206 0.2559819624155999 1.0 0.8226058834497079 8 Q12768,Q99720 2 |
| Dermatological manifestations of systemic disorders 0.3475275192929931 1.1344590119638802 0.2566020575390526 1.0 0.8230195546416776 75 P40855,P00374,P50542,O75381,P11166,P35670,Q15437,Q14739,O75792,P10644,O15118,Q5HYI8,Q9Y5Y5,P51812,Q9UER7,P49748,P04066,O75844 18 |
| Narrow iliac wing 0.6782103481619761 1.1339709805604756 0.2568067209181579 1.0 0.8230195546416776 4 P51812 1 |
| Kyphoscoliosis 0.3579669674189956 1.131704886207535 0.257758526597468 1.0 0.8230195546416776 53 Q96AY3,Q9NWM8,Q9NR77,P54886,Q15526,Q9HC07,Q8NCH0,P51812,Q96DX4,O75844 10 |
| Progressive psychomotor deterioration 0.5337178264187723 1.1283301646894452 0.2591805087532455 1.0 0.8230195546416776 8 Q10713,Q9NZJ7,P07602,O43681 4 |
| Basal ganglia calcification 0.5754043740466261 1.1272840743227852 0.2596223935661581 1.0 0.8230195546416776 7 P03886 1 |
| Dry skin 0.4125063317256311 1.1271555817731205 0.2596767067666601 1.0 0.8230195546416776 24 P00813,O75792,P11802,P51648,Q06136,P04066,Q9H4L7 7 |
| Abnormality of the peripheral nervous system 0.3363579251200768 1.126314857319457 0.2600322712045813 1.0 0.8230195546416776 97 Q15120,P42892,O60313,P07196,Q99720,P31930,O76024,Q9NQZ5,Q9Y619,P48643,O15269,P21964,Q9NR77,P07602,Q9UBB4,O95831,Q9NZJ7,Q10713,P0DP25,P04062,O43681,Q92734 22 |
| Abnormality of the gastric mucosa 0.469465201250646 1.126283675272015 0.2600454653889641 1.0 0.8230195546416776 15 O76024,P04062,Q9Y4P3 3 |
| Abnormal nephron morphology 0.3481122257312348 1.1239861029501452 0.2610189215376008 1.0 0.8230195546416776 66 Q14108,O43826,P03886,Q8N1F7,P21912,O75306,Q9Y4P3,O95470,P00813,P23786,Q15526,O75431,Q9NZ08,P00846 14 |
| Turricephaly 0.5273968158535514 1.1212667142985728 0.262174349488355 1.0 0.8230195546416776 11 P16435,Q6NUK1,P21964 3 |
| Motor polyneuropathy 0.5272111028011488 1.1202397644580693 0.262611602986746 1.0 0.8230195546416776 11 Q15041,P54886,P07196 3 |
| Stroke like episode 0.6022787829465983 1.1199187300581783 0.2627483958959493 1.0 0.8230195546416776 6 P03886 1 |
| Diffuse cerebral atrophy 0.4498273629479408 1.1180732045699933 0.2635357294820042 1.0 0.8230195546416776 18 P16278,O14936,P07602,Q9NZJ7,Q10713,O75787,P31930 7 |
| Abnormal heart valve morphology 0.344177577665464 1.115830188782376 0.26449482888859 1.0 0.8230195546416776 81 Q6NUK1,P21964,O43909,Q12768,P54886,P53701,Q6ZXV5,Q9Y4P3,Q9UHX1,P08236,O95202,Q96PU5,Q8NCH0,Q9UER7,O75844,P51812,P04062 17 |
| Positive romberg sign 0.5362281984799855 1.1113995167098345 0.2663964202715312 1.0 0.8230195546416776 9 Q8IV08,Q9H6K4 2 |
| Lower limb hyperreflexia 0.4416049754480249 1.1111974162640668 0.2664833831494522 1.0 0.8230195546416776 19 P21912,P54886,P13073,Q14739,Q05086,Q15041 6 |
| Osteolytic defects of the distal phalanges of the hand 0.6724954383747733 1.109557957290885 0.2671895566379954 1.0 0.8230195546416776 4 O75844 1 |
| Enlarged kidney 0.5716918093513468 1.1089334410463805 0.2674588962231474 1.0 0.8230195546416776 7 P23786 1 |
| Prenatal maternal abnormality 0.5076664702791046 1.1054497431502277 0.2689647597327784 1.0 0.8230195546416776 12 P16435,P50416,Q8TAA9 3 |
| Small placenta 0.7989221253130573 1.102532812851895 0.2702301013635733 1.0 0.8230195546416776 3 O75844 1 |
| Short umbilical cord 0.7989221253130573 1.102532812851895 0.2702301013635733 1.0 0.8230195546416776 3 O75844 1 |
| Abnormal epidermal morphology 0.4602724183793559 1.1022901224860866 0.2703355621869887 1.0 0.8230195546416776 16 Q06136,O75844 2 |
| Abnormality of the fetal cardiovascular system 0.626392327768279 1.1022299737573833 0.2703617041119859 1.0 0.8230195546416776 5 P16435,Q12768 2 |
| Bulbous nose 0.3777343191709495 1.1006164169693584 0.2710636373867114 1.0 0.8230195546416776 44 P21281,Q8WYQ5,P21964,P42892,P38606,O75431,P23786,Q02252,Q96EK5,P16435,Q96A33,Q9BSJ2,Q13409,O43909 14 |
| Fatigable weakness of respiratory muscles 0.4893529209704915 1.1004642527759063 0.2711298965845896 1.0 0.8230195546416776 13 Q15165,P35637 2 |
| Generalized lipodystrophy 0.6694629237906161 1.096613267182976 0.272810485346008 1.0 0.8230195546416776 4 O75844 1 |
| Abnormal heart rate variability 0.6692485706173037 1.0956985519021742 0.2732107166394897 1.0 0.8230195546416776 4 P07602 1 |
| Joint hemorrhage 0.8012658227848093 1.095398030629117 0.2733422965251306 1.0 0.8230195546416776 2 P38435 1 |
| Head titubation 0.5963747292262955 1.0922813860850116 0.27470943934555 1.0 0.8230195546416776 6 Q99720 1 |
| Tetraparesis 0.3924931363835305 1.092152195039521 0.2747662107167388 1.0 0.8230195546416776 33 P07602,P35637,Q9UBX3,P17900,Q9NZJ7,P00846 6 |
| Scanning speech 0.7961380183602369 1.0916567812091322 0.274983988320975 1.0 0.8230195546416776 3 O14773,Q9UBB4 2 |
| Protruding tongue 0.5219492741503532 1.0911330622123785 0.2752143366153161 1.0 0.8230195546416776 11 Q10713,Q6NUK1 2 |
| Pace of progression 0.3258871846714124 1.090889620667076 0.2753214547863873 1.0 0.8230195546416776 158 P46976,P54802,Q15120,O60313,P07196,Q9NR28,Q9NP80,Q99720,O75340,Q9P0J0,Q9NQZ5,O95140,P54886,O95470,Q15526,Q16637,Q5XKP0,O00400,Q15043,Q14108,Q9NR77,Q9BUF5,Q13510,Q13126,O95831,Q9Y5Y5,Q10713,P50402,Q8IV08,Q9BRK0,P05023,P04062,Q3ZAQ7,Q13057,O14979,Q8N1F7,Q9Y6M9,Q12768,O14773,O14653,Q92734 41 |
| Molar tooth sign on mri 0.6680817248341537 1.0907199168611186 0.2753961440029671 1.0 0.8230195546416776 4 O43924 1 |
| Narrow nasal ridge 0.5957910683885183 1.0895495495892809 0.2759116168741764 1.0 0.8230195546416776 6 P54886,O75844 2 |
| Optic atrophy 0.3398189572869518 1.0894541220866625 0.2759536756618699 1.0 0.8230195546416776 184 P21281,P50542,Q6P4Q7,O60313,Q9H490,O95202,Q9H061,P00846,Q8NAT1,Q5KU26,P40855,O76024,Q9P0J0,Q9H6K4,Q7KZN9,Q86Y39,O43292,Q96HR9,Q96CU9,Q15526,P10644,P50897,Q5XKP0,P51812,Q9BPX6,Q9BSJ2,Q15043,Q9Y263,Q86SQ9,O75381,P03886,P21964,P07602,Q9NZJ7,Q9Y5Y5,Q96PU5,O43505,Q12768,O75306,O43681,Q6ZXV5,P56589,Q9NVI7,Q92734 44 |
| Wormian bones 0.4581929766649688 1.0884625204395186 0.2763909737137386 1.0 0.8232154409762562 16 O95831,P54886,O75844 3 |
| Malabsorption 0.356885207920686 1.0870605242255034 0.2770100623560054 1.0 0.8232486485742924 52 P40855,O76024,P50542,Q14566,O75381,P09601,Q9Y4P3,Q9Y5Y5,Q9NZ08,Q96A33 10 |
| Cupped ear 0.475451674909437 1.086393789758621 0.2773048079408142 1.0 0.8232486485742924 14 Q15392 1 |
| Generalized onset seizure 0.3305107431101509 1.085771939009058 0.2775799041168516 1.0 0.8235291885314531 101 Q9NW15,O43175,P00846,Q96N66,P00374,O75503,O43292,Q9Y619,P51812,Q9Y263,Q86SQ9,Q14108,P03886,P07602,Q13510,Q9UBB4,Q9NZJ7,P05023,P04062,P11166,Q05086,Q9NVI7,O43909 23 |
| Progressive pes cavus 0.6663025418644332 1.0831308743863897 0.2787503366580282 1.0 0.8254718170101502 4 Q12768,P54886 2 |
| Laryngomalacia 0.4746829637329274 1.0815792242074336 0.2794395402478842 1.0 0.8258226205640647 14 P16435,P07602,P21964 3 |
| Abnormality of the nasal bone 0.6649947678234815 1.0775544429070243 0.2812326422087357 1.0 0.8258899385674494 4 Q6NUK1 1 |
| Hydrocephalus 0.3432409133558993 1.0754624906725592 0.2821677169181746 1.0 0.827258833582455 73 Q9H490,O95202,O75792,P40855,Q6NUK1,Q8NAT1,P23786,P08236,Q15392,P10644,P16435,Q8TAA9,P21964,Q10713,O43505,P04062,P11166,Q12768,P53701 19 |
| Abnormally lax or hyperextensible skin 0.3875272124765016 1.0737990588189612 0.2829127518779371 1.0 0.8275061889438057 36 Q6NUK1,P54886,P38435,Q9UHX1,Q8NCH0,P51812,Q9NWM8,P04062 8 |
| Eyelid myoclonus 0.5231014128415197 1.0720748439966763 0.2836864168022959 1.0 0.828434058093112 8 Q13510 1 |
| Motor axonal neuropathy 0.4497455492757263 1.0718776285124128 0.2837749997240002 1.0 0.828434058093112 17 Q7Z392,Q13057,O15269,Q8IY17,O60313,O95831 6 |
| Ulnar claw 0.6630277100191935 1.0691698554383295 0.2849931392353819 1.0 0.8299630914172149 4 Q9NR77 1 |
| Peripheral neuropathy 0.3278407236586916 1.0684924928052613 0.285298414961189 1.0 0.8302238495360702 164 P21281,P50542,Q9Y2R0,P54802,O60313,O75792,P07196,P00846,P31930,O76024,Q7KZN9,Q9P0J0,P54886,Q96CU9,Q9NPL8,O95470,P48643,Q15526,P10644,Q9BPX6,Q5THJ4,P03886,Q9NR77,P07602,O95831,Q9NZJ7,Q15041,Q10713,Q8IV08,P05023,P35670,O75306,Q9NVI7,P04066 34 |
| Progressive hearing impairment 0.5175188065387502 1.0666128782044964 0.2861466827163519 1.0 0.8321612711649009 11 O76024,P03886 2 |
| Abnormal circulating albumin concentration 0.3933039805312598 1.0648793015319598 0.2869305527979546 1.0 0.832847435237857 30 O95470,Q9BT22,Q5XKP0,Q9NSD9 4 |
| Woolly hair 0.6175924083957989 1.0627458145808617 0.2878972381718334 1.0 0.8331796788003513 5 Q96A33,P15924 2 |
| Intermittent diarrhea 0.521222000723479 1.0621146305334597 0.2881836489754097 1.0 0.8331796788003513 8 Q9UER7,Q5HYI8 2 |
| Retrocollis 0.7879479832978145 1.0597204611032074 0.2892717913896723 1.0 0.8331796788003513 3 Q99720 1 |
| Impaired tactile sensation 0.5203328424332118 1.0574024819505587 0.2903279392883466 1.0 0.8341452650197348 8 Q9NR77 1 |
| Impaired pain sensation 0.4406394156064314 1.0537778947854943 0.2919846162792245 1.0 0.8343669780223325 18 O15269,Q9NR77,O95831,P48643,P07196 5 |
| Abnormality of the radioulnar joints 0.7911392405063282 1.0537079237148133 0.2920166600712683 1.0 0.8343669780223325 2 P16435 1 |
| Radioulnar dislocation 0.7911392405063282 1.0537079237148133 0.2920166600712683 1.0 0.8343669780223325 2 P16435 1 |
| Orthostatic hypotension 0.4699754881310061 1.0520845627519748 0.2927607540610935 1.0 0.8343681490741165 14 Q9NZJ7,P07602,P04062 3 |
| Axial dystonia 0.7858649611221489 1.0516127243397968 0.2929772674620627 1.0 0.8344636724715842 3 Q99720 1 |
| Hemiplegia hemiparesis 0.3834044372299829 1.046603565763267 0.2952824566603076 1.0 0.8385705192408944 37 P03886,P11166,O60313,O75792,P50416,Q9NZ08,Q9NP80,Q9Y5P6 8 |
| Hammertoe 0.4395473396780691 1.0461295820580163 0.295501208971086 1.0 0.8385705192408944 18 Q9NR77,Q99720 2 |
| Subcapsular cataract 0.5582269519209926 1.0423675590189607 0.2972413010263857 1.0 0.8386130123021224 7 Q9H6K4 1 |
| Muscle hypertrophy of the lower extremities 0.5171251128172742 1.040403862482994 0.2981523079756223 1.0 0.8386130123021224 8 Q8NAT1,Q9NR77 2 |
| Neurodegeneration 0.3948773273592221 1.0403837108614389 0.2981616664641096 1.0 0.8386130123021224 28 Q15165,P35637,P17900,O75792,P08236,Q6DKK2,Q92804 7 |
| Poor motor coordination 0.4793405274743546 1.0398944449003098 0.2983889436207112 1.0 0.8386130123021224 13 O75503,P35670,O95140,Q10713,Q9Y5P6 5 |
| Redundant skin 0.4203015630036137 1.038422734839275 0.2990732896480275 1.0 0.8386130123021224 21 Q6NUK1,P54886,P38435,Q8NCH0,P51812 5 |
| Skeletal muscle atrophy 0.3231699909228649 1.0377112472977958 0.2994045070678386 1.0 0.8386130123021224 159 Q7Z392,P46976,P50542,Q8IY17,Q15120,P21912,P35637,O60313,Q6P4A7,Q13608,Q9BQT8,P07196,Q99720,P11047,O43175,Q8NAT1,O95140,Q969X5,P54886,Q9NPL8,P48643,Q15526,Q16637,P10644,P51812,Q9NWM8,Q92804,P13473,Q5THJ4,O00400,Q15165,Q9Y606,O15269,Q9NR77,Q13126,Q13510,O95831,Q8TD16,P50416,P50402,O43505,Q6DKK2,Q9Y5P6,Q3ZAQ7,Q13057,O14979,Q12768,Q9NVI7,Q92734 49 |
| Left ventricular hypertrophy 0.4079174159464359 1.0376708041147686 0.2994233418526448 1.0 0.8386130123021224 23 Q6NUK1,P03886,P21912,P10253,O75431,O75208 6 |
| Sensory ataxia 0.654678427340245 1.033626760786268 0.3013106838938841 1.0 0.8386130123021224 4 Q9NR77 1 |
| Axial muscle weakness 0.6104607211667724 1.030788824801877 0.3026398599285713 1.0 0.8386130123021224 5 Q8TD16,P11047,Q9Y5P6 3 |
| Irregular capital femoral epiphysis 0.78512658227848 1.0290571543537894 0.3034528181916194 1.0 0.8386130123021224 2 P50542 1 |
| Small epiphyses 0.6533414398506863 1.0279427730526998 0.3039767477295338 1.0 0.8386130123021224 4 Q96DX4 1 |
| Short fourth metatarsal 0.7835443037974674 1.0225839012366875 0.3065046244871943 1.0 0.8386130123021224 2 Q96DX4 1 |
| Enterocolitis 0.7782510991350011 1.0220336785744082 0.3067649607343514 1.0 0.8386130123021224 3 O43826 1 |
| Eeg with spike wave complexes 0.4532031597369265 1.0206183169636251 0.3074353078001008 1.0 0.8386130123021224 15 Q14108,P11166,O75503,Q9NQZ5,P04080 5 |
| Sensory neuropathy 0.3823896063503133 1.0173611219342256 0.3089816697526266 1.0 0.8386130123021224 35 O15269,P03886,O60313,Q8IV08,O95831,P48643,Q15041,Q92734,P00846 9 |
| Peroneal muscle atrophy 0.7768301292090527 1.0165237418510555 0.3093800475372366 1.0 0.8386130123021224 3 Q9NR77 1 |
| Cerebral white matter atrophy 0.4173594969502194 1.0163366484021406 0.3094691023180798 1.0 0.8386130123021224 21 Q9Y263,O75503,O60313,P54886,Q9Y5Y5 5 |
| Truncal titubation 0.7816455696202521 1.014823908657814 0.3101897747326181 1.0 0.8386130123021224 2 Q6PJG6 1 |
| Hepatomegaly 0.3324089278647054 1.0118191305625777 0.3116245412444867 1.0 0.8386130123021224 179 P21281,P50542,P54802,O43676,O75792,Q9BT22,Q9UER7,Q96A33,P00846,O75340,P40855,P00374,O43826,Q86Y39,Q9Y619,Q96CU9,Q9NPL8,P23786,P08236,Q15526,Q9HC07,P49748,Q86SQ9,Q14108,P03886,O14617,O75381,P07602,Q13510,Q9NZJ7,P50416,Q9Y5Y5,Q10713,P04062,P09601,Q9Y6M9,P35670,O75306,O15118,Q9NVI7,P04066,O43909 42 |
| Abnormality of the intrahepatic bile duct 0.6490752467285661 1.009821418589759 0.3125808565042292 1.0 0.8386130123021224 4 Q10713 1 |
| Abnormality of somatosensory evoked potentials 0.6488283723875949 1.0087735435314011 0.3130832519671094 1.0 0.8386130123021224 4 Q9NQZ5,Q9Y6X9,P20700 3 |
| Muscle fibrillation 0.4461989411086111 1.0086252431580711 0.3131543963362584 1.0 0.8386130123021224 16 O95831,Q16637,Q13510,Q9BQT8 4 |
| Agitation 0.381065909795157 1.0053324250449531 0.3147368067059182 1.0 0.8386130123021224 35 Q15165,Q6PJG6,P35610,P42858,P42892,P35637,P48449,P10644,Q92804,O96008,P04062,P08069 12 |
| Abnormal endocardium morphology 0.4506647839725827 1.00410635407994 0.3153273530529059 1.0 0.8386130123021224 15 Q9NZ08,P04062,Q9Y4P3 3 |
| Adrenal hypoplasia 0.5102468085153861 1.0039643793468955 0.315395783252657 1.0 0.8386130123021224 8 Q12768,O60826,Q07864,O75844 4 |
| Abnormal muscle glycogen content 0.6042899026896649 1.0031772622754982 0.315775341642619 1.0 0.8386130123021224 5 P46976,O75648 2 |
| Anonychia 0.4621304883116506 1.002902235705072 0.3159080338201501 1.0 0.8386130123021224 14 P21281,Q6NUK1,O14936,Q14739,P15924,P14923,P16615 7 |
| Dystonia 0.3262591151087918 0.9985451847579236 0.3180150653870537 1.0 0.8386130123021224 169 P35637,P17900,O75792,Q9NP80,Q99720,P00846,Q96N66,Q7KZN9,Q9P0J0,Q9NQZ5,O14949,P54886,Q96CU9,Q5BJH7,Q8NI60,Q15526,Q86VD7,Q9BPX6,Q5THJ4,Q15043,Q9Y263,Q86SQ9,P03886,O14617,P07602,Q9NZJ7,P61457,Q6DKK2,Q02252,O75208,P04062,P11166,P35670,O75306,O15118 35 |
| Paresthesia 0.3950743835381282 0.9983536077194431 0.3181079212162265 1.0 0.8386130123021224 25 Q9H6K4,P11166,P54802,Q9NR77,P07196,Q9NZ08 6 |
| Anteriorly placed anus 0.5201180360207218 0.995663612561434 0.3194136155487053 1.0 0.8386130123021224 10 P16435,Q6NUK1,P53701 3 |
| Abnormal tricuspid valve morphology 0.4719532388505842 0.9951744147506046 0.319651443155424 1.0 0.8386130123021224 13 P51812,P21964,P53701 3 |
| Respiratory insufficiency 0.3318886760798382 0.9948977547727345 0.3197859949853998 1.0 0.8386130123021224 180 P50542,P35637,Q53H12,O43676,O75792,Q9BT22,P40855,Q6NUK1,O76024,Q86Y39,Q7RTS9,Q9Y619,Q969X5,Q96CU9,Q9NPL8,P23786,Q15526,Q16637,Q5XKP0,P49748,P13473,Q9Y263,Q15165,O75381,P03886,Q70HW3,Q9NSD9,Q9NR77,P07602,Q13510,O95831,Q9NZJ7,Q9Y5Y5,O75208,Q96AY3,Q9Y6M9,O75306,P53701 38 |
| Abnormal oral frenulum morphology 0.4718214114464243 0.9943763007658324 0.3200397015433291 1.0 0.8386130123021224 13 O43924,O75844 2 |
| Abnormal brainstem morphology 0.3328153082168475 0.9941830308523268 0.3201337678898999 1.0 0.8386130123021224 86 O14936,Q9Y375,O60313,O43676,P07437,Q13885,Q5KU26,Q86Y39,Q96CU9,Q9NPL8,Q15526,P03886,Q9UPT5,O95831,Q96EK5,Q10713,O43505,Q9Y5P6,Q13057,Q9Y6M9,O75306,Q6ZXV5,Q13409 23 |
| Infantile muscular hypotonia 0.3370199147527252 0.9917829566133748 0.3213034133775063 1.0 0.8386130123021224 69 P03886,O43909,P07602,Q13510,O75306,P17900,Q15526,Q9NZJ7,P49748,P00846,Q15043 11 |
| Vocal cord paresis 0.6446006348737456 0.9908424594354854 0.3217625128270478 1.0 0.8386130123021224 4 O95140 1 |
| Progressive 0.3237901490071642 0.9903843344837456 0.3219862994816909 1.0 0.8386130123021224 101 Q8N1F7,Q15043,Q9NP80,Q9Y6M9,P54802,Q12768,Q13126,Q13510,P54886,O60313,O95470,O95831,Q16637,Q5XKP0,Q9Y5Y5,Q99720,P04062 17 |
| Ureterocele 0.6004202805501505 0.9858850080476096 0.3241895444690712 1.0 0.8386130123021224 5 O14936,Q13608 2 |
| Neoplasm of fatty tissue 0.5181331876999846 0.985121904044531 0.3245641952891811 1.0 0.8386130123021224 10 Q99643,O95140,P21912,Q15437,Q8TAA9 5 |
| Tetraplegia 0.4867150202951132 0.9843214996733824 0.3249574617090687 1.0 0.8386130123021224 12 O95831,Q92734,P54886,O43681 4 |
| Hypertrophic nerve changes 0.7734177215189864 0.9813022244301136 0.3264437261320141 1.0 0.8386130123021224 2 Q9NR77 1 |
| Dyslexia 0.5058702391581905 0.9807913204796008 0.3266956593062748 1.0 0.8386130123021224 8 Q9H6K4 1 |
| Hypointensity of cerebral white matter on mri 0.54525646674521 0.9782873356520796 0.3279322317365118 1.0 0.8386130123021224 7 P07602 1 |
| Abnormal skin morphology of the palm 0.3311452783058188 0.97790461925088 0.3281215003089566 1.0 0.8386130123021224 87 P21281,P50542,P21912,O95202,P07858,P40855,Q6NUK1,P42167,Q14739,P51812,Q9Y263,O75381,Q9Y5Y5,Q8NCH0,Q06136,Q9H4L7,Q15437,O75431,P56589,Q9UHX1,P16615,O43909 22 |
| Atelectasis 0.4687764788093721 0.9759418163160632 0.329093298298083 1.0 0.8386130123021224 13 Q13510 1 |
| Neonatal death 0.4852215519181492 0.9756849614201104 0.3292206069006673 1.0 0.8386130123021224 12 Q6NUK1,Q9NVI7,P04062 3 |
| Inflammation of the large intestine 0.4850193256074273 0.9745155570669288 0.3298006185480751 1.0 0.8386130123021224 12 O43826,P08183 2 |
| Ankle clonus 0.4684656855261617 0.9740602908987992 0.330026604401155 1.0 0.8386130123021224 13 Q9NW15,P07602,Q9NZJ7,O75787,Q15043 5 |
| Emotional lability 0.3466135020782941 0.9737727584192114 0.3301693819440663 1.0 0.8386130123021224 52 Q15165,Q7KZN9,Q9P0J0,P35637,P07602,O75306,Q96CU9,Q15526,P10644,Q9NZJ7 10 |
| Albinism 0.7656902360807074 0.9734529286341366 0.3303282440543797 1.0 0.8386130123021224 3 O14617 1 |
| Abnormal cardiomyocyte morphology 0.7708860759493659 0.9710240610419676 0.3315362969976425 1.0 0.8386130123021224 2 P46976 1 |
| Trismus 0.6396636040970876 0.9699384357249636 0.3320771800828206 1.0 0.8386130123021224 4 P04062 1 |
| Hyperorality 0.6396453451551538 0.9698612003174698 0.3321156822225455 1.0 0.8386130123021224 4 P55072,Q05086,Q9UQN3 3 |
| Decreased muscle mass 0.4285872234202699 0.9693334200709612 0.3323788598442636 1.0 0.8386130123021224 18 P46976,Q8TAA9,P04066,Q8NCH0 4 |
| Decreased ldl cholesterol concentration 0.6393338861079153 0.9685438156187836 0.3327728475676195 1.0 0.8386130123021224 4 P48643,Q15800 2 |
| Ineffective esophageal peristalsis 0.5694115266619836 0.9662622846928572 0.3339129532695488 1.0 0.8386130123021224 6 Q7Z392,Q9NSE4,Q9NRG9,P06280 4 |
| Hypoplastic vertebral bodies 0.568870748842338 0.963740914427243 0.3351758361344223 1.0 0.8386130123021224 6 Q8TAA9,Q14739 2 |
| Pleural effusion 0.5013670971229315 0.9569636136540646 0.3385856208966189 1.0 0.8411293325729228 8 Q9NZ08,P14174,P52732,Q14739 4 |
| Weakness of facial musculature 0.3335633323689463 0.9563987760792456 0.3388708028483087 1.0 0.8411293325729228 57 P40855,P50542,O75381,Q9Y5P6,Q9BUF5,O60313,Q13510,Q13608,Q9BQT8,P56589,P51812,Q15526,Q9UHX1,Q9Y5Y5,P07196,Q86VD7,O75340,Q15043 18 |
| Abnormal sensory nerve conduction velocity 0.5666676637357899 0.95347262289018 0.3403506609064397 1.0 0.8411293325729228 6 Q9NR77,O15269 2 |
| Hypokalemia 0.5005664539037916 0.9527291256720364 0.3407273322469111 1.0 0.8411293325729228 8 P0DP25 1 |
| Craniofacial dysostosis 0.6355066164910272 0.9523695586882458 0.3409095922045937 1.0 0.8411293325729228 4 Q6NUK1 1 |
| Pneumothorax 0.5661846655755344 0.9512222246325472 0.3414915787037933 1.0 0.8411293325729228 6 Q8NCH0 1 |
| Abnormal urine protein level 0.3335222681301171 0.9509655690149584 0.3416218545405403 1.0 0.8411293325729228 60 Q14108,O43826,P03886,P09601,Q8N1F7,P35670,Q9Y4P3,O95470,O75431,Q15526,P04062 11 |
| Ectopic anus 0.4536614544773639 0.9497958708428668 0.3422159843960097 1.0 0.8411293325729228 14 P16435,Q6NUK1,P49748,P53701 4 |
| Bilateral cryptorchidism 0.511229402206829 0.9484688557128418 0.3428908205688517 1.0 0.8411293325729228 10 P48449,Q07864,O43924 3 |
| Abnormal large intestine physiology 0.408239432998201 0.947852203390592 0.3432047002774183 1.0 0.8414050716478644 21 P21964,P07602,Q9NZJ7,Q9UER7,Q8TAA9 5 |
| Limb fasciculations 0.6336952390388347 0.9447239680292804 0.3447998172927502 1.0 0.8435016989565134 4 Q16637 1 |
| Menorrhagia 0.6328960376895804 0.9413526392291824 0.3465241755271508 1.0 0.8437364526573718 4 O43826 1 |
| Vertical nystagmus 0.7570001823900423 0.9400244663115636 0.3472050110083686 1.0 0.8437364526573718 3 P50542 1 |
| Postural instability 0.424337066548233 0.939549573855096 0.3474486523410087 1.0 0.8437364526573718 18 Q9NR77,O75503,P04062 3 |
| Conjunctival hamartoma 0.7565685343463108 0.9383682864695564 0.3480551778771765 1.0 0.8437364526573718 3 P21912,Q15437 2 |
| Bone cyst 0.7565685343463108 0.9383682864695564 0.3480551778771765 1.0 0.8437364526573718 3 P21912,Q15437 2 |
| Follicular thyroid carcinoma 0.7565685343463108 0.9383682864695564 0.3480551778771765 1.0 0.8437364526573718 3 P21912,Q15437 2 |
| Abnormal bone structure 0.3230553710533468 0.9376530466881706 0.3484227407860245 1.0 0.8437364526573718 170 P50542,Q86XL3,P54802,Q9H490,Q9Y4P3,P38435,O95202,Q96DX4,O43175,O75844,P40855,Q6NUK1,O43826,O43292,Q7RTS9,Q9Y619,P54886,Q14739,Q15392,P08236,P10644,Q9HC07,Q9NWM8,Q15043,Q14108,O75381,Q9NSD9,P07602,Q13510,Q13126,O00116,O95831,Q9NZJ7,Q9Y5Y5,P04062,Q96AY3,P35670,Q15437,O75431,P56589,Q9Y375,O43909 42 |
| Shock 0.6318577648110868 0.9369746850994634 0.3487715797749218 1.0 0.8437364526573718 4 Q9UER7,P15924 2 |
| Memory impairment 0.3743356036329202 0.9366230090742046 0.3489525120835381 1.0 0.8437364526573718 34 P03886,P07602,P54886,O43681,Q9NZJ7,Q9NZ08,Q9BRK0 7 |
| Myopathic facies 0.5368052427639027 0.9365959494584862 0.3489664363403078 1.0 0.8437364526573718 7 Q9Y5P4,Q969X5 2 |
| Nasogastric tube feeding in infancy 0.5087991487840653 0.9355733927964194 0.3494928791424732 1.0 0.844561488547789 10 Q9NZJ7,Q9UHX1,P07602 3 |
| Low frustration tolerance 0.5027086135495055 0.9336379800037418 0.3504906669593284 1.0 0.8457521159339106 9 P04062 1 |
| Absent epiphyses 0.4962427012010627 0.929873709034028 0.3524364768790904 1.0 0.8457521159339106 8 Q7LGA3,O43909 2 |
| Abnormal aortic valve physiology 0.371797924116504 0.9295169520767506 0.352621244087687 1.0 0.8457521159339106 36 Q12768,P54886,Q6ZXV5,Q9UHX1,Q96PU5,Q9NZ08,O75844,P04062 8 |
| Myopathy 0.3234180417137509 0.9294739985641 0.3526434941800056 1.0 0.8457521159339106 95 P46976,Q53H12,O60313,Q9Y4P3,O43676,P07196,P00846,O75340,O76024,Q86Y39,P42167,Q969X5,P23786,Q9NWM8,P13473,Q9Y606,P03886,Q13126,Q8NCH0,O75306 20 |
| Urinary incontinence 0.3640025602109076 0.9293663464871932 0.3526992622919502 1.0 0.8457521159339106 42 P11166,Q12768,P35637,P07602,P54886,Q9UBB4,Q9NZJ7,P07196,P51812,Q99720,Q8TAA9 11 |
| Iris hypopigmentation 0.534805687964773 0.9267422901780996 0.3540603545778336 1.0 0.8457521159339106 7 Q05086,O14617 2 |
| Increased intramyocellular lipid droplets 0.4955044381971651 0.9259735131971044 0.3544597452549898 1.0 0.8457521159339106 8 Q8NI60 1 |
| Deformed tarsal bones 0.7591772151898724 0.9237305409972868 0.3556266267976435 1.0 0.8457521159339106 2 O43175 1 |
| Foot dorsiflexor weakness 0.3720378339336057 0.9232708184907836 0.3558660912434395 1.0 0.8457521159339106 35 P46976,Q9NR77,P54886,Q9BQT8,Q14739,P07196,Q99720,P05023 8 |
| Single fiber emg abnormality 0.7524533080088621 0.9226001228799868 0.3562156316270903 1.0 0.8460121251143397 3 Q9Y5P6,O75340 2 |
| Delayed ossification of carpal bones 0.7520718741601693 0.9211406042787228 0.3569770234357083 1.0 0.8462709088115588 3 O43909 1 |
| Proportionate short stature 0.3731911127773812 0.9199561335549226 0.3575956830936702 1.0 0.8462709088115588 33 P10619,Q07864,Q8IY17,Q7RTS9,P21912,Q9Y619,P54886,Q14739,P53701,Q15392,P10644 11 |
| Opisthotonus 0.398805885245913 0.919533749871705 0.3578164610270942 1.0 0.8462709088115588 22 O43909,P07602,P35637,O60313,Q9NZJ7,Q99720,P11117,P04062 8 |
| Abnormal cranial nerve physiology 0.3307644101944278 0.9170078203658704 0.3591385421514101 1.0 0.8470036979646264 71 P50542,P21912,Q13608,P07196,O75340,P40855,P51812,Q9NZ08,Q15043,O75381,Q9NR77,P07602,Q9BUF5,Q13510,Q9NZJ7,Q9Y5Y5,Q9Y5P6,P56589,Q9UHX1,Q92734 20 |
| Abnormal mitral valve physiology 0.3655215484875561 0.9150725143667028 0.3601535631303836 1.0 0.847420148542079 40 P54886,O75306,P53701,Q15526,P51812,Q9NZ08,Q96DX4,P04062,O75844 9 |
| Posterior subcapsular cataract 0.5583257045815486 0.9146502663567742 0.3603752610664537 1.0 0.8475044819303913 6 Q9H6K4 1 |
| Abnormal cornea morphology 0.3110700446354368 0.9139343807524464 0.3607513267434881 1.0 0.847514708887329 151 P50542,Q53H12,Q9Y4P3,Q7LGA3,O75844,P10619,P40855,Q6NUK1,Q96HR9,P54886,P08236,Q9NZ08,Q9NWM8,P51648,Q86SQ9,Q9Y5Z9,O75381,P21964,Q13510,Q9Y5Y5,Q8NCH0,O43505,Q06136,P04062,P35670,P53701,Q9NVI7,P04066 28 |
| Glomus jugular tumor 0.7563291139240494 0.9122913442288706 0.3616153696487456 1.0 0.8482581451316826 2 P21912 1 |
| Abnormality of the nasal skeleton 0.5824677882858269 0.90595313712569 0.3649606572517512 1.0 0.8510356321756796 5 Q6NUK1 1 |
| Headache 0.3300523429750436 0.9056769344415304 0.3651068744486669 1.0 0.8510356321756796 68 Q8N1F7,P03886,P11166,Q9NSD9,Q9NQZ5,O60313,P23786,O75792,P10644,Q9NZ08,P00846,P04062,Q8TAA9 13 |
| Exaggerated startle response 0.4915926461570711 0.9053203527000032 0.3652956971057437 1.0 0.8510356321756796 8 P17900 1 |
| Calcific stippling 0.7479178146410416 0.9052683778485744 0.3653232247206344 1.0 0.8510356321756796 3 P50542 1 |
| Abnormal retinal morphology 0.3412075326404308 0.9037932933446716 0.3661050186375925 1.0 0.8510356321756796 210 P50542,O60313,Q9Y4P3,O43924,P17900,P38435,Q7LGA3,P00846,P10619,P40855,O76024,Q7KZN9,Q9P0J0,O43826,O75503,Q9Y619,Q96HR9,Q96CU9,Q15526,P50897,Q5XKP0,P51812,Q9NZ08,P51648,Q86SQ9,O75381,P03886,P21964,P07602,Q13510,Q9NZJ7,Q9Y5Y5,Q8NCH0,Q10713,O43505,P04062,Q9Y287,Q12768,O75306,P53701,Q9UHX1,O14773 42 |
| Easy fatigability 0.3967543799976712 0.9037926393343564 0.3661053654940087 1.0 0.8510356321756796 22 Q9Y5P6,P21912,Q53H12,P10644,Q15526,Q9NWM8,O75340 7 |
| Abnormal autonomic nervous system physiology 0.3717825611431723 0.9021852382441292 0.3669584751049268 1.0 0.8510356321756796 32 O76024,P42892,P07602,P48643,Q9NZJ7,P0DP25,P04062 7 |
| Infantile axial hypotonia 0.4871897826685036 0.8987646735355684 0.3687780204126576 1.0 0.8510356321756796 11 P17900,Q9NZJ7,P07602,Q15043 4 |
| Flaring of rib cage 0.745805634694522 0.8972144718187043 0.3696044843910577 1.0 0.8510356321756796 3 Q7RTS9,Q96L58 2 |
| Prominent sternum 0.745805634694521 0.8972144718187005 0.3696044843910597 1.0 0.8510356321756796 3 O95831,Q7RTS9 2 |
| Coxa valga 0.4117897512781331 0.8965765131619458 0.3699449354429855 1.0 0.8510356321756796 19 Q9Y619,P51812,Q96A33,P04066,O75844 5 |
| Abnormal palmar dermatoglyphics 0.3284503048085578 0.8963394065347274 0.3700715186878414 1.0 0.8510356321756796 57 P21281,Q6NUK1,P50542,P40855,Q9Y263,O75381,O43909,O75431,O95202,Q9UHX1,Q9Y5Y5,Q8NCH0,P51812,Q9H4L7 14 |
| Angiokeratoma 0.7454890788224104 0.8960084049397581 0.3702482742910857 1.0 0.8510356321756796 3 P16278,P04066 2 |
| Decreased size of nerve terminals 0.7522151898734165 0.8958159995147006 0.370351043321246 1.0 0.8510356321756796 2 P11047 1 |
| Vertebral compression fracture 0.429004932685734 0.8941186517927721 0.3712584107891705 1.0 0.8510956348874779 16 Q14108,P04062 2 |
| Fragile skin 0.4952127014195785 0.8939806403585148 0.3713322494756306 1.0 0.8510956348874779 9 P15924,Q96L58,Q8NCH0 3 |
| Abnormal atrioventricular valve morphology 0.3667555843454404 0.8923701706979951 0.3721945541019411 1.0 0.8524395613786296 37 P21964,O43909,Q12768,Q9Y4P3,O75431,P53701,P51812,O75844,P04062 9 |
| Abnormality of the tonsils 0.4883812688789042 0.8883827476686433 0.374334902364863 1.0 0.8539371090966131 8 Q96DX4,P21964,P00813 3 |
| Abnormal macrophage morphology 0.5526492005655228 0.888294418520683 0.3743824012425345 1.0 0.8539371090966131 6 Q13510 1 |
| Retinopathy 0.372883241413658 0.8882222861744887 0.3744211930769139 1.0 0.8539371090966131 30 O75306,O95202,Q15526,Q9NZ08,P51648,P00846,Q9Y375 7 |
| Abnormal pupillary function 0.5267277299344226 0.8869869688620221 0.37508591633162 1.0 0.8539371090966131 7 Q9NR77,P07602 2 |
| 2 3 finger syndactyly 0.7499999999999989 0.8869689447081665 0.3750956205088851 1.0 0.8539371090966131 2 P15924 1 |
| Hypovolemic shock 0.7499999999999989 0.8869689447081665 0.3750956205088851 1.0 0.8539371090966131 2 P15924 1 |
| 3 4 finger syndactyly 0.7499999999999989 0.8869689447081665 0.3750956205088851 1.0 0.8539371090966131 2 P15924 1 |
| Abnormal circulating fatty acid concentration 0.3941830576461237 0.8840697223391991 0.376658576476196 1.0 0.8557863023076502 22 P40855,P50542,O75381,Q13608,O75431,P56589,P23786,O75880,Q9Y5Y5,Q9H845,P49748 11 |
| Abnormal sternum morphology 0.31007414303941 0.8831448927136282 0.3771579913868621 1.0 0.8561257624416244 109 P21912,Q9H490,Q9Y4P3,O95202,Q7LGA3,Q96DX4,Q96A33,Q7RTS9,Q9Y619,P54886,Q14739,P08236,P51812,Q9Y263,Q9NSD9,Q13510,O95831,Q8NCH0,P04062,Q96AY3,Q15437,O75431,Q9UHX1,Q9NVI7,O43909 25 |
| Enlarged thorax 0.4273486565960804 0.8830977173849113 0.3771834773564086 1.0 0.8561257624416244 16 Q7RTS9,P08236,P04066,O75844 4 |
| Abnormal labia minora morphology 0.4869828319178473 0.8810125362779776 0.3783110347528939 1.0 0.8569787970557359 8 Q9Y619 1 |
| Somatic sensory dysfunction 0.3144529631230815 0.8775793238281522 0.3801720539010902 1.0 0.857978900263206 103 P54802,Q15120,P07196,P00846,Q9H6K4,O95140,Q9Y619,P54886,P48643,Q9NZ08,Q5THJ4,O15269,Q9NR77,P07602,O95831,Q9NZJ7,Q8NCH0,Q8IV08,Q9BRK0,P11166,O00165,Q12768,O14773,Q92734 24 |
| Abnormal femoral neck morphology 0.3651127545071165 0.8771553715856072 0.3804022525731423 1.0 0.857978900263206 37 P50542,Q96AY3,O43909,Q7RTS9,Q9Y619,O95831,P51812,Q96DX4,Q96A33,P04066,O75844 11 |
| Prominent superficial blood vessels 0.4831229641797306 0.8763043431009905 0.3808646046254815 1.0 0.857978900263206 11 Q6NUK1,O75844 2 |
| Abnormal tongue physiology 0.4208443028827452 0.8746181123558207 0.3817817293051759 1.0 0.857978900263206 17 Q16637,Q13510,Q9BQT8 3 |
| Bone pain 0.392885001066325 0.8741166970251698 0.3820547054000105 1.0 0.857978900263206 22 Q14108,P35670,P07602,Q9NZJ7,P04062 5 |
| Short nose 0.3193951544771982 0.8738690725857944 0.3821895590486734 1.0 0.857978900263206 95 Q9Y263,Q6NUK1,Q9Y606,O43909,P42892,Q12768,Q9H490,Q9Y4P3,P38435,Q15392,Q9UHX1,Q9NVI7,Q8NCH0,P16435,Q96DX4,Q02252,O75844,P04062 18 |
| Abnormality of the achilles tendon 0.4517199017648569 0.872762915591836 0.3827923167789671 1.0 0.857978900263206 13 Q08J23,O60313,Q8TD16,Q15041,P50402,Q92734 6 |
| Poor suck 0.3710879540743544 0.8727014310907881 0.3828258374753885 1.0 0.857978900263206 30 P21281,Q9Y263,P50542,P22695,O75306,Q15526 6 |
| Hepatitis 0.4256651342948472 0.8718988994751597 0.3832635341305923 1.0 0.857978900263206 16 P08236,Q9Y619 2 |
| Temperature instability 0.5236375167045888 0.8718043989211384 0.3833150944150616 1.0 0.857978900263206 7 P07602 1 |
| Broad femoral neck 0.7387847561226346 0.8705277463346017 0.3840120629265662 1.0 0.857978900263206 3 Q7RTS9 1 |
| Broad metacarpals 0.7455696202531633 0.8693278886571097 0.3846678129507266 1.0 0.857978900263206 2 O43909 1 |
| Flattened femoral head 0.7455696202531633 0.8693278886571097 0.3846678129507266 1.0 0.857978900263206 2 Q96DX4 1 |
| Abnormal morphology of the abdominal musculature 0.4846930837571483 0.868952621688614 0.3848730455451714 1.0 0.857978900263206 8 Q8NCH0 1 |
| Ventricular septal hypertrophy 0.7452531645569609 0.8680705890520136 0.3853556905932249 1.0 0.857978900263206 2 P46976 1 |
| Rhizomelia 0.4815648635611732 0.8677051289878754 0.385555777336249 1.0 0.857978900263206 11 Q7RTS9,Q15392,Q14739 3 |
| Impairment of activities of daily living 0.3287303507988854 0.8672981822468551 0.3857786524092743 1.0 0.857978900263206 55 O15269,P21964,P11166,Q12768,P35637,P07602,P54886,Q9UBB4,Q9NZJ7,P07196,P51812,Q99720,Q8TAA9 13 |
| Plantar hyperkeratosis 0.3724579281750891 0.8670723818803492 0.3859023518508411 1.0 0.857978900263206 29 Q7Z392,Q99643,P42167,P21912,Q15437,Q9NPE3,O75431,P15924,P42166,P16615,Q06136,Q9H4L7 12 |
| Tubulointerstitial nephritis 0.5214430977961886 0.8610329177349432 0.3892199134724408 1.0 0.8619824267505247 7 P23786 1 |
| Cerebral calcification 0.366981718274122 0.8597489595785832 0.389927440083113 1.0 0.8619824267505247 32 P03886,Q9NSD9,O60313,P23786,O75792,O43175 6 |
| Hypotension 0.3791429371835045 0.8590542142619295 0.3903106061253369 1.0 0.8619824267505247 24 P07602,O43681,Q9NZJ7,Q9UER7,P04062 5 |
| Visual fixation instability 0.7357287236149989 0.8589541593122157 0.3903658072917093 1.0 0.8619824267505247 3 Q13510 1 |
| Hyporeflexia of upper limbs 0.7354297166989565 0.8578232245948241 0.3909900834384967 1.0 0.8619824267505247 3 Q9NR77 1 |
| Abnormal head movements 0.4940685078454907 0.8575399684135183 0.3911465357912607 1.0 0.8619824267505247 10 Q99720,P35637 2 |
| Cardiorespiratory arrest 0.7350427350427323 0.856359930067626 0.3917987214262486 1.0 0.8619824267505247 3 P13473,Q96L58 2 |
| Atrophic scars 0.5456710485283568 0.8559773319701985 0.3920103179703453 1.0 0.8619824267505247 6 Q9NWM8 1 |
| Abnormality of metacarpal epiphyses 0.5711143771209929 0.8557240746401766 0.392150420501506 1.0 0.8619824267505247 5 P16435,P51812 2 |
| Clonus 0.3659713624190844 0.8555625170029592 0.392239810418276 1.0 0.8619824267505247 33 Q9NW15,Q6PJG6,O75787,Q12768,P35637,Q9Y619,O00400,P07602,Q9BQT8,P48643,Q9NZJ7,O75477,Q99720,Q9Y5P6,Q15043 15 |
| Spastic tetraparesis 0.3846243635934984 0.8548112683864918 0.3926556389427611 1.0 0.8623609565406276 23 Q7RTS9,P07602,P17900,Q9NZJ7,P00846 5 |
| Encephalopathy 0.3173438097841805 0.8534010772224665 0.3934369243327695 1.0 0.8623609565406276 96 Q86SQ9,O75208,Q7KZN9,P03886,Q9Y6M9,Q86Y39,P07602,Q9Y619,O75306,Q96CU9,O43676,P23786,P50416,Q9NVI7,P04062 15 |
| Acantholysis 0.6117159254915148 0.852521029804625 0.3939249720337998 1.0 0.8623609565406276 4 P16615,P15924 2 |
| Nonketotic hypoglycemia 0.6113169747079078 0.8508585419837126 0.3948479370363933 1.0 0.8628442992777188 4 P23786 1 |
| Abnormal atrioventricular valve physiology 0.3379628684814669 0.8504143730058923 0.3950947479531783 1.0 0.8628442992777188 51 Q6NUK1,P54886,O75306,Q9Y4P3,P53701,Q15526,P51812,Q9NZ08,Q9UER7,Q96DX4,P04062,O75844 12 |
| Status epilepticus with prominent motor symptoms 0.733290264842081 0.8497388320712701 0.3954703038356211 1.0 0.8628442992777188 3 Q13510 1 |
| Submucous cleft of soft and hard palate 0.3777254265730608 0.8476760465986213 0.3966184098947207 1.0 0.8645058054533129 24 Q9Y619,Q15392,Q7LGA3,O43505,O75844 5 |
| Focal dystonia 0.3948826089584436 0.847638029420364 0.3966395883739899 1.0 0.8645058054533129 21 Q9NQZ5,Q99720,P54886,Q15043 4 |
| Sensory axonal neuropathy 0.4371186131845984 0.846184981073228 0.3974495590225371 1.0 0.8645058054533129 14 O95831,P48643,Q8IV08 3 |
| Distal arthrogryposis 0.5687119205137205 0.845134583899244 0.3980357009943596 1.0 0.8647178639991804 5 Q8NCH0 1 |
| Esodeviation 0.3632862703541514 0.8437742107532964 0.3987955891993537 1.0 0.8659561365471682 35 P50542,O43924,Q9UHX1,Q9NVI7,Q13153,O43175,O75340,P04062 8 |
| Abnormality of dental color 0.7311384804171803 0.8416216383520528 0.3999997733545486 1.0 0.8669196608824818 3 Q6P4Q7 1 |
| Distal upper limb amyotrophy 0.4464335337739579 0.8408490655239121 0.4004324957752281 1.0 0.8670333241856791 13 Q9NR77,P07196,Q9BQT8 3 |
| Mutism 0.4463523879151622 0.8403595510863895 0.4007068211219593 1.0 0.8672155217447245 13 Q13510,P53701 2 |
| Mandibular aplasia 0.6085067940107809 0.839160858469311 0.4013790485951582 1.0 0.8673417243242628 4 Q9Y619 1 |
| Abnormal heart sound 0.567342334579573 0.8391044952955148 0.4014106737492966 1.0 0.8673417243242628 5 P10644 1 |
| Cessation of head growth 0.5670970400508453 0.838025028262533 0.4020166470418651 1.0 0.8673700243458291 5 Q9Y263,Q05086 2 |
| Abnormal femoral neck head morphology 0.3475926404064063 0.8362421739733961 0.4030186769873285 1.0 0.8683795724236605 46 P50542,Q96AY3,O43909,Q7RTS9,Q9Y619,Q14739,O95831,Q7LGA3,P51812,Q96DX4,Q96A33,P04066,O75844 13 |
| Childhood onset sensorineural hearing impairment 0.7367088607594924 0.8342701966753381 0.4041287423454465 1.0 0.8683795724236605 2 P23634 1 |
| Prelingual sensorineural hearing impairment 0.7367088607594924 0.8342701966753381 0.4041287423454465 1.0 0.8683795724236605 2 P23634 1 |
| Abnormal pattern of respiration 0.3204258516630691 0.8339811078052747 0.404291629880577 1.0 0.8683795724236605 177 P21281,P46976,P50542,P35637,O60313,O43924,Q96A33,P00846,O75844,O76024,Q7KZN9,Q9P0J0,Q86Y39,Q9Y619,Q969X5,Q96CU9,P23786,Q15526,P51812,P49748,Q9Y263,Q15165,P22695,P03886,O14617,Q9NSD9,P07602,Q13510,O95831,Q9NZJ7,Q10713,P04062,O75306,P53701,Q9UHX1 35 |
| Recurrent hand flapping 0.7281745756571332 0.8304641620979888 0.4062764020828902 1.0 0.8699742934065914 3 Q05086 1 |
| Unilateral renal agenesis 0.4025544044090841 0.830180372596562 0.4064368106145104 1.0 0.8699742934065914 19 Q86XL3,P54886,Q9UHX1,Q7LGA3,P16435 5 |
| Low levels of vitamin d 0.4828738646770417 0.8288914841714222 0.4071658145551105 1.0 0.8704529368829367 9 Q9NSD9 1 |
| Acne 0.4189254417072285 0.8271103055130654 0.4081745436106965 1.0 0.871900716779594 16 Q9NZ08,P21964 2 |
| Reduced brain n acetyl aspartate level by mrs 0.7263645972910286 0.8236642004439277 0.4101303861339032 1.0 0.8721555154918826 3 P07602 1 |
| Abnormal brain choline level by mrs 0.7263645972910286 0.8236642004439277 0.4101303861339032 1.0 0.8721555154918826 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.7263645972910286 0.8236642004439277 0.4101303861339032 1.0 0.8721555154918826 3 P07602 1 |
| Limited elbow movement 0.3582840477432725 0.8234408091213868 0.4102573641951947 1.0 0.8721555154918826 38 Q96AY3,Q9H6K4,Q7RTS9,P54886,P23786,Q7LGA3,P16435,Q96DX4,O43909 9 |
| Decreased number of peripheral myelinated nerve fibers 0.4329974056458377 0.8204315157669987 0.4119701553302741 1.0 0.87416654644302 14 O15269,Q9NR77,O95140,P07196,Q92734 5 |
| Spastic gait 0.374066795917247 0.8183309789845685 0.4131682214565719 1.0 0.8754865659116952 24 Q12768,Q9Y619,P54886,P48643,Q15041,Q9NVI7,Q9BRK0,Q15043 8 |
| Abnormality of the odontoid process 0.4804845517980404 0.8163227940674832 0.414315540850467 1.0 0.8775099239564003 9 O95831,P08236,O43909 3 |
| Eeg with polyspike wave complexes 0.5122375640439163 0.8159502286146764 0.4145286025893178 1.0 0.877553587654266 7 Q14108,P11166 2 |
| Right ventricular hypertrophy 0.6023334163616545 0.8135457309264753 0.4159052380515466 1.0 0.8788359061700894 4 P11047,Q9H267 2 |
| Furrowed tongue 0.5363308143955864 0.8128895525505719 0.4162813849826734 1.0 0.8792233050120384 6 P21912,Q15437 2 |
| Decreased activity of the pyruvate dehydrogenase complex 0.3848130128054741 0.8122979725188793 0.4166206736625821 1.0 0.8793551383424684 22 Q7KZN9,Q9P0J0,O75306,Q96CU9 4 |
| Oculomotor apraxia 0.373056680817345 0.8102355532174316 0.4178048073223315 1.0 0.8812164298750378 24 O43292,O43924,O14773,Q10713,O96008,P04062 6 |
| Wide anterior fontanel 0.3728661622701952 0.8087090165152094 0.4186825406137437 1.0 0.8822515643247096 24 P40855,Q6NUK1,P50542,O75381,Q13608,P56589,Q9Y5Y5,P16435 8 |
| Limited elbow extension 0.4559573211979127 0.8068410210301445 0.4197580821390028 1.0 0.8831783307952481 12 P16435,Q96DX4,Q9H6K4 3 |
| Hypocalcemia 0.4108556644902205 0.8065998398537242 0.4198970660447583 1.0 0.8831783307952481 17 P49748,P10644,P21964,Q9NSD9 4 |
| Oral ulcer 0.5102258986471475 0.8061234188604169 0.420171689528217 1.0 0.8832492576009368 7 Q9NZ08 1 |
| Hand muscle weakness 0.4555858420506621 0.8047063467582477 0.4209891562325589 1.0 0.8834378980305885 12 Q15120,O95140,Q9NR77,Q8TD16,P07196,P11047 6 |
| Generalized hypopigmentation 0.4781992213313201 0.8043137891185934 0.4212157760497885 1.0 0.8835068715671738 9 O14617 1 |
| Congenital hepatic fibrosis 0.720447348846862 0.801508427874176 0.4228373669804914 1.0 0.8835604443501216 3 Q10713 1 |
| Alopecia universalis 0.7281645569620241 0.8007704348265945 0.42326455782197 1.0 0.8835604443501216 2 P15924 1 |
| Aplasia hypoplasia of the phalanges of the toes 0.7281645569620241 0.8007704348265945 0.42326455782197 1.0 0.8835604443501216 2 P21281 1 |
| Congenital muscular dystrophy 0.728164556962024 0.8007704348265937 0.4232645578219705 1.0 0.8835604443501216 2 Q9Y5P6 1 |
| Status epilepticus 0.3492565997384181 0.8003541026703191 0.4235056651227706 1.0 0.8835604443501216 43 Q86SQ9,P50542,O43292,P42892,P07602,Q13510,Q9UBB4,P53701,Q15392,Q9NZJ7,P05023 11 |
| Aspiration pneumonia 0.3718040521947435 0.8002009338626789 0.4235943888386138 1.0 0.8835604443501216 24 P21281,Q6NUK1,Q13510,P04062 4 |
| Hypomimic face 0.439660905322104 0.8000386113947019 0.4236884267225314 1.0 0.8835604443501216 13 Q9Y263,P04062 2 |
| Aplasia hypoplasia of the uterus 0.4189948037388579 0.7983364115095188 0.4246752934555995 1.0 0.8842554055513853 15 Q16740,P53701 2 |
| Red green dyschromatopsia 0.7191057918464632 0.7965017598087467 0.4257404530606692 1.0 0.8850368975719993 3 Q9H6K4 1 |
| Dolichocephaly 0.3588957478724878 0.7925665429619981 0.4280304079951662 1.0 0.8872128354894507 33 P21281,P40855,P50542,O75381,Q7RTS9,Q969X5,O95202,Q4J6C6,Q9Y5Y5 9 |
| Type i transferrin isoform profile 0.4698149244064757 0.7908777960579402 0.4290153065660651 1.0 0.887912580797949 8 P51571,Q9BT22,O75340 3 |
| Coronal craniosynostosis 0.5560989222521523 0.7898035087955196 0.4296425295820933 1.0 0.8881096713029673 5 P16435,Q6NUK1 2 |
| Abnormal arterial physiology 0.3663409073697881 0.7867201726927601 0.4314456924894316 1.0 0.8906257844055266 27 Q9Y4P3,O75792,Q9NZ08,Q9NWM8,O75844 5 |
| Specific learning disability 0.3201996595502651 0.7862425519037609 0.4317254013465763 1.0 0.8907999231404471 65 Q9H6K4,P03886,Q9NSD9,P21964,P35637,Q9Y619,P54886,P53701,P10644,Q10713,O43505,Q9BPX6,Q5THJ4,O43909 14 |
| Postaxial polydactyly 0.3961571204401473 0.784296381483933 0.4328662222266819 1.0 0.8914052447378814 19 Q9Y263,Q14739,O43924,Q10713,O43909 5 |
| Joint contracture of the hand 0.3340027876196761 0.7819674406491773 0.4342337086836432 1.0 0.8931464644101998 50 P50542,Q9NR77,P42892,Q9Y619,Q15392,P07196,P16435,O43175,O75844 9 |
| Hypoproteinemia 0.7150997150997119 0.781588880068263 0.4344562240617606 1.0 0.8932012541576323 3 P49748,P11047 2 |
| Retinal arteriolar tortuosity 0.4364168336371556 0.7805280081809488 0.4350801482493318 1.0 0.8939724092893337 13 P00846,P21964 2 |
| Perimembranous ventricular septal defect 0.4677453228165685 0.780064523842066 0.4353528967446785 1.0 0.8939724092893337 8 P0DP25,Q9UHX1 2 |
| Heinz bodies 0.7224683544303783 0.7786175872648108 0.436205015812332 1.0 0.8943771906943498 2 O14936 1 |
| Retinal degeneration 0.3357157180034605 0.7765596975056742 0.4374185872313516 1.0 0.8958040266070987 49 Q86SQ9,O75503,Q96HR9,Q13510,O14773,P50897,Q7LGA3,Q10713,P51648,P04062 10 |
| Abnormality of the anterior fontanelle 0.3569672637297814 0.7754261867903268 0.4380878662397889 1.0 0.8958040266070987 33 P40855,Q6NUK1,P50542,O75381,Q9Y619,Q13608,P38606,P56589,Q9Y5Y5,P51812,P16435 11 |
| Psoriasiform dermatitis 0.7132109933329589 0.7745781002563012 0.4385890020534906 1.0 0.8958040266070987 3 Q15800 1 |
| Beaking of vertebral bodies 0.4783162505495397 0.7744946080835703 0.438638355532152 1.0 0.8958040266070987 10 Q96DX4,P08236,P04066 3 |
| Ketotic hypoglycemia 0.7212025316455684 0.7737153402062396 0.4390991463772684 1.0 0.8958040266070987 2 Q13423 1 |
| Increased connective tissue 0.5034551914415408 0.7731253436187911 0.4394482036038531 1.0 0.8958040266070987 7 O95831,P07196 2 |
| Bifid scrotum 0.5520977626490982 0.7723543325302906 0.4399045937211416 1.0 0.8958040266070987 5 P16435 1 |
| Ectrodactyly 0.4003804007160973 0.7720674496059509 0.4400744797883082 1.0 0.8958040266070987 18 Q9NR77,Q99720,O95202,P07196 4 |
| Biliary cirrhosis 0.527288422702416 0.7713954169723478 0.4404725907793754 1.0 0.8958040266070987 6 P09601,Q14739 2 |
| Abnormal renal pelvis morphology 0.3256451479181393 0.7700690308538468 0.4412589453952251 1.0 0.8961224772604129 53 P21281,P40855,O76024,O75381,Q12768,P23786,Q9Y5Y5,Q8NCH0,P16435,O43505 10 |
| Dysesthesia 0.5269540263237164 0.769865596312589 0.441379623668177 1.0 0.8961224772604129 6 Q8NCH0 1 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.5026239159787697 0.7690827121822612 0.4418442103264102 1.0 0.8961542035244168 7 Q7LGA3,O43909 2 |
| Dysplasia of the femoral head 0.7116176005064869 0.7686738395716044 0.4420869586946305 1.0 0.8961542035244168 3 Q96L58,O75431 2 |
| Abnormal circulating ige level 0.4641249624393909 0.7611817314785695 0.4465485282873984 1.0 0.8998233907509114 8 P49327,O43909,P00813 3 |
| Oligohydramnios 0.3581155494363993 0.7608004884931063 0.4467762426024286 1.0 0.8998233907509114 30 Q6NUK1,Q9NSD9,Q9Y5P4,Q969X5,P23786,Q9UHX1,Q7LGA3,Q96L58,P16435,Q9Y5P6 10 |
| Diminished movement 0.3881651970435893 0.7605157609037158 0.4469463518989318 1.0 0.8998233907509114 20 P13473,P04062 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.4698360509406173 0.7604862760462077 0.4469639696076708 1.0 0.8998233907509114 9 Q9NR77,O43505,O43175 3 |
| Vertebral wedging 0.717405063291138 0.7590551408991844 0.447819572248745 1.0 0.8998233907509114 2 Q96AY3 1 |
| Lipoma 0.5005512314929852 0.7590118093734192 0.4478454924642825 1.0 0.8998233907509114 7 P21912,Q15437,Q8TAA9 3 |
| Primitive reflex 0.5241479284484873 0.7570422049002227 0.4490245776298647 1.0 0.8998233907509114 6 P17900 1 |
| Pili torti 0.7081253542543575 0.7557671492523389 0.4497888159689425 1.0 0.9000377389563666 3 Q13608 1 |
| Ecchymosis 0.4124024216748054 0.7557126586381447 0.4498214927810438 1.0 0.9000377389563666 15 P38435,P04062,Q8NCH0 3 |
| Broad phalanx of the toes 0.5233046437994293 0.7531935968394906 0.4513335865654435 1.0 0.9009279174530072 6 Q6DKJ4,Q7LGA3,O14936 3 |
| Upper limb asymmetry 0.7158227848101252 0.7529677676400418 0.4514692832790339 1.0 0.9009279174530072 2 P07437 1 |
| Aplasia hypoplasia of the nasal bone 0.7073306991016662 0.7528368462309855 0.4515479621715368 1.0 0.9009279174530072 3 Q6NUK1 1 |
| Poor gross motor coordination 0.7065730407926682 0.7500452848583337 0.4532274312849933 1.0 0.9009279174530072 3 O75503 1 |
| Enuresis 0.7148734177215177 0.7493214043562908 0.4536635098427841 1.0 0.9009279174530072 2 Q92796 1 |
| Abnormality of the tongue 0.3118595633321582 0.7490572812802013 0.4538226812257802 1.0 0.9009279174530072 92 P21281,P50542,P21912,Q9BQT8,O43924,Q9Y4P3,Q7LGA3,P07196,Q96A33,O75844,P40855,Q6NUK1,Q16637,O75381,Q13510,O95831,Q9Y5Y5,Q10713,Q15437,Q05086,O75431,P56589,P04066 23 |
| Xanthomatosis 0.7056030389363684 0.7464746789355056 0.4553807219652082 1.0 0.9012840389685998 3 P02545,O43826 2 |
| Flat occiput 0.4059249034918771 0.7410130492054712 0.4586855282369864 1.0 0.9012840389685998 16 P40855,P50542,O75381,Q05086,Q9Y5Y5 5 |
| Gastrointestinal obstruction 0.4097668445298821 0.7387094155680796 0.4600834671464386 1.0 0.9012840389685998 15 P42892,P21912,Q01844,Q5HYI8 4 |
| Muscle weakness 0.362696510747156 0.7379931237593069 0.4605186276675241 1.0 0.9012840389685998 287 Q15120,P21912,P10253,O43676,Q99720,P00846,Q8NAT1,Q5KU26,Q86Y39,O95140,Q96CU9,Q9NWM8,Q92804,O00400,Q15165,P03886,Q70HW3,P07602,Q9BUF5,Q13510,Q8TD16,Q8NCH0,P50402,Q9Y5P6,Q3ZAQ7,P17900,Q9NP80,P40855,P00374,Q9P0J0,P13073,P23786,Q16637,Q5XKP0,Q5THJ4,Q9Y263,O14617,Q9NR77,Q13126,P05023,Q9Y6M9,O75306,Q9UHX1,Q53H12,Q9BQT8,P07196,Q6NUK1,P54886,Q8NI60,Q15526,Q9HC07,P51812,P49748,Q9BPX6,P13473,Q15043,Q86SQ9,Q9Y606,O75381,O95831,Q9NZJ7,Q9Y5Y5,Q10713,O43505,P35670,Q12768,O43909,P46976,P50542,P35637,O60313,O75340,Q7RTS9,Q969X5,Q9NPL8,Q14739,P10644,O15269,Q4J6C6,Q6DKK2,O43681,P56589,Q92734,Q9Y375 84 |
| Glomerular sclerosis 0.3524475024276818 0.7353196194401624 0.4621448622935871 1.0 0.9013603815478004 33 Q8N1F7,P03886,Q14108,O43826,O75431,O95470 6 |
| Inappropriate crying 0.4952336501605329 0.7332360245788371 0.4634144869424179 1.0 0.9026783684141076 7 Q9NZJ7,P07602 2 |
| Toxemia of pregnancy 0.5423774124249096 0.7302016391075142 0.4652669407970031 1.0 0.9039900131032428 5 Q14739,O43772 2 |
| Jaundice 0.3144709856375557 0.7271223199186416 0.4671510268519245 1.0 0.90521207429196 59 P40855,P00374,P50542,O75381,P11166,P35670,Q15437,Q14739,O75792,P10644,O15118,Q5HYI8,Q9Y5Y5,P49748 14 |
| Focal myoclonic seizure 0.4575267523004078 0.7268858562563236 0.4672958822112443 1.0 0.90521207429196 8 O14617,O75503,O43909 3 |
| Abnormal abdomen morphology 0.337050739988544 0.7237981363831801 0.4691896736401499 1.0 0.9074339194462796 225 P21281,P50542,P54802,O43676,O75792,Q9BT22,Q9UER7,Q96A33,P00846,O75340,P10619,P40855,P00374,O43826,Q86Y39,Q9Y619,Q96CU9,Q9NPL8,Q14739,Q15392,P23786,P08236,Q15526,Q9HC07,Q9NZ08,P49748,Q86SQ9,Q14108,P03886,O14617,Q9NSD9,P21964,O75381,P07602,Q13510,Q9NZJ7,P50416,Q5HYI8,Q9Y5Y5,Q10713,P04062,P09601,Q9Y6M9,P35670,O75306,O15118,Q9NVI7,P04066,O43909 49 |
| Abnormal systemic arterial morphology 0.2925424586056055 0.7229083677276481 0.4697361823031805 1.0 0.908010594023952 139 P38435,P17900,Q7LGA3,P00846,O75844,P10619,Q6NUK1,Q9NWM8,P03886,P21964,Q9NSD9,P07602,Q13510,Q96PU5,P04062,P53701,Q6ZXV5,Q9UHX1,O15118 19 |
| Facial telangiectasia 0.6982769017656201 0.7196312579401295 0.4717520611101649 1.0 0.9100997132952496 3 Q9UER7 1 |
| Disproportionate short trunk short stature 0.5156992637026557 0.7185967924899728 0.4723893902557563 1.0 0.9108226721210356 6 Q9UHX1,Q96DX4 2 |
| Abnormality of the shoulder girdle musculature 0.3512021730065367 0.7181607509737064 0.4726581753282675 1.0 0.9109557394323328 31 P46976,Q9Y5P6,O14979,P07602,O60313,Q8TD16,Q9NZJ7,P07196,P50402,O75340 10 |
| Abdominal distention 0.3612774490074802 0.7161168742655369 0.4739191851882789 1.0 0.912994473162138 24 Q96HY6,O43826,Q13277,Q7RTS9,P07602,O43681,Q9NZJ7,Q01844,O75648,Q9UGP8,P04062 11 |
| Tremor by anatomical site 0.3545524386602174 0.7148539098330574 0.4746993193464992 1.0 0.912994473162138 29 Q15120,Q9NR77,P35637,Q05086,Q92734,Q16637,P07196,Q99720 8 |
| Aortic atherosclerotic lesion 0.7053797468354415 0.7131172901374213 0.4757731812295795 1.0 0.912994473162138 2 P02545 1 |
| Precocious atherosclerosis 0.7053797468354415 0.7131172901374213 0.4757731812295795 1.0 0.912994473162138 2 P02545 1 |
| Premature arteriosclerosis 0.7053797468354415 0.7131172901374213 0.4757731812295795 1.0 0.912994473162138 2 P02545 1 |
| Premature coronary artery atherosclerosis 0.7053797468354415 0.7131172901374213 0.4757731812295795 1.0 0.912994473162138 2 P02545 1 |
| Abnormal left ventricle morphology 0.3582703171151822 0.7091931106388353 0.4782046481718036 1.0 0.9143032266932598 26 Q6NUK1,P03886,P21912,P10253,O75431,O75208 6 |
| Posteriorly rotated ears 0.2958437297736787 0.706559711389616 0.4798401333385471 1.0 0.914949085746654 112 P50542,P42892,Q9H490,Q9Y4P3,O43924,Q7LGA3,P40855,Q6NUK1,Q9Y619,Q15392,P23786,Q9HC07,P16435,Q9Y263,O75381,Q9Y5Y5,Q8NCH0,Q10713,O43505,P04062,Q9UHX1 21 |
| Low set posteriorly rotated ears 0.3136361382893766 0.7061957038471007 0.4800664416999565 1.0 0.914949085746654 73 P40855,Q6NUK1,P50542,Q9Y263,O75381,Q9Y4P3,O95202,O43924,Q15392,Q4J6C6,Q9Y5Y5,Q8NCH0,P16435,Q10713,P04062 15 |
| Gastrointestinal hemorrhage 0.349490925500358 0.7057425255530726 0.4803482700169934 1.0 0.914949085746654 32 O76024,Q99643,Q9UJS0,P21964,P21912,Q14739,Q9UHX1,P49327,P54198,P49257,O00192,Q9NZ08,Q9UER7,Q9UGP8 14 |
| Narrow mouth 0.3135655041601736 0.7053149096255369 0.4806142839494309 1.0 0.9150735427179144 73 Q6NUK1,P21964,Q9Y619,P54886,Q15392,Q9NVI7,Q7LGA3,Q8NCH0,P04062,O75844 10 |
| Pseudobulbar signs 0.451844100594804 0.7046815226560614 0.4810084526367646 1.0 0.9154417963370812 11 P17900 1 |
| Autoamputation 0.5356940819809447 0.7014357866996228 0.4830310951086245 1.0 0.9167260502704072 5 P48643 1 |
| Distal muscle weakness 0.3127855495628828 0.6978971948556876 0.4852414888113163 1.0 0.9167260502704072 64 P46976,Q9Y5P6,O15269,Q8IY17,Q9NR77,O95140,P35637,Q9BQT8,O95831,Q8TD16,P07196,Q99720,P00846,O75340,Q5THJ4,O43909 16 |
| Hyperesthesia 0.6913657452019063 0.6945197607428787 0.4873563127462539 1.0 0.9167260502704072 3 P07602 1 |
| Gingival bleeding 0.4361187541739964 0.6933947564038974 0.4880618520309023 1.0 0.9167260502704072 12 Q14108 1 |
| Antenatal onset 0.4627570199343411 0.6931198371525408 0.4882343496146424 1.0 0.9167260502704072 10 Q9NSD9 1 |
| Abnormality of circulating adrenocorticotropin level 0.4627097071705758 0.6928736699238036 0.4883888346900593 1.0 0.9167260502704072 10 P16435,Q9UER7,P10644 3 |
| Retinal coloboma 0.4508568816828259 0.6923937188536571 0.4886901092735947 1.0 0.9167260502704072 8 Q10713,Q9UHX1 2 |
| Absent facial hair 0.4567084919721876 0.6921535935328862 0.4888408781727849 1.0 0.9167260502704072 9 O75844,O43175,P15924,P14923 4 |
| Impaired distal vibration sensation 0.5092741865591967 0.6895414068279104 0.4904826253932288 1.0 0.9167260502704072 6 P54886 1 |
| Central hypoventilation 0.4857759048384701 0.6876374354215958 0.4916811278095969 1.0 0.9167260502704072 7 O75306 1 |
| Abnormal metacarpal morphology 0.3474059754443799 0.6874865159848544 0.4917761950157389 1.0 0.9167260502704072 32 Q7RTS9,Q96S52,Q14739,O43924,P10644,P08236,Q96L58,Q9H9E3,P16435,Q96DX4,P51812,O43909 12 |
| Hypercholesterolemia 0.4114410673757547 0.6864753622327797 0.4924133956071468 1.0 0.9167260502704072 14 O43826,Q8N511 2 |
| Malrotation of small bowel 0.5701235449238883 0.6821274630394166 0.495158356426078 1.0 0.9167260502704072 4 Q8NCH0 1 |
| Abducens palsy 0.5696189365744591 0.6801037847957432 0.4964387481655596 1.0 0.9167260502704072 4 P07602 1 |
| Muscle flaccidity 0.6873314188637856 0.6799616363641485 0.496528752534034 1.0 0.9167260502704072 3 P13473 1 |
| Severe muscular hypotonia 0.3465739118696794 0.6779890781381284 0.4977786182074735 1.0 0.9182324025186404 31 P40855,P50542,O75381,O43505,O95831,Q8TD16,P56589,Q9Y5Y5,Q9NWM8 9 |
| Episodic ataxia 0.530090463189052 0.6774681870973307 0.4981089479834604 1.0 0.9184701992739908 5 P11166,O14936 2 |
| Epidermal acanthosis 0.45341625848703 0.6751233440219283 0.4995974035094805 1.0 0.918992036590714 9 P16615,Q06136,P15924,Q9H4L7 4 |
| Muscle fiber inclusion bodies 0.4592293495667889 0.6747899081863634 0.499809252957387 1.0 0.918992036590714 10 O43676,P07196 2 |
| Desquamation of skin soon after birth 0.6856862752177486 0.6740471323516528 0.5002813491491036 1.0 0.918992036590714 3 P04062 1 |
| Bilateral external ear deformity 0.6834441278885695 0.6660074412791424 0.5054063440974323 1.0 0.9233385132549244 3 P15924,P14923 2 |
| Metatarsus adductus 0.4169856842054005 0.6643852202788203 0.5064437898708118 1.0 0.9233841190767302 13 P50542,P08236,Q15392 3 |
| Pain 0.3094104071278002 0.6622750561714832 0.5077949597951377 1.0 0.9237994837753832 176 P42892,P35637,O60313,Q9Y4P3,Q9UER7,P00846,O75844,Q14566,Q9H6K4,P54886,Q14739,P23786,P10644,Q9NZ08,P49748,Q8TAA9,Q15043,Q15165,Q14108,Q70HW3,P21964,Q9NR77,P07602,Q13510,Q9NZJ7,Q5HYI8,Q15800,P04062,Q8N1F7,P35670 30 |
| Subcortical heterotopia 0.5261903475500002 0.66087428044367 0.5086929413554833 1.0 0.9237994837753832 5 Q9BSJ2 1 |
| Subcortical band heterotopia 0.5261903475500002 0.66087428044367 0.5086929413554833 1.0 0.9237994837753832 5 Q9BSJ2 1 |
| Intestinal malrotation 0.3463550868077223 0.6600188033173502 0.5092417628096901 1.0 0.9237994837753832 30 P21964,Q9NSD9,Q12768,O95202,Q15392,Q8NCH0 6 |
| Saccadic smooth pursuit 0.5025310543968844 0.6592373683626843 0.5097433542589143 1.0 0.9237994837753832 6 Q10713,O14773 2 |
| Mild postnatal growth retardation 0.6908227848101249 0.6585928125283028 0.5101572795660776 1.0 0.9237994837753832 2 P10644 1 |
| Lack of skin elasticity 0.3970161393691735 0.6568397927419876 0.5112839346050302 1.0 0.9241067943993616 15 P10644,O43175,O75844 3 |
| Proximal amyotrophy 0.3926472372028726 0.6537201039774824 0.5132921485701369 1.0 0.9247776363017876 16 O14979,P35637,Q13608,Q06210,Q9Y6X9,Q16637,P50402,P07196,Q92734 9 |
| Cerebellar atrophy 0.2881310923329838 0.649818119949072 0.5158097130144306 1.0 0.9250050841851156 139 Q9NW15,Q7Z392,O14936,Q8IY17,O60313,Q13608,P38606,Q9H490,P07437,Q92643,Q9BT22,O75792,Q6PJG6,Q9H6K4,O75503,O43292,P13073,Q96CU9,Q5BJH7,Q8NI60,Q5XKP0,O00400,Q9Y263,Q15043,Q14108,Q9UBB4,Q9Y5Y5,Q10713,Q6DKK2,Q8IV08,P46977,O75208,Q5JRX3,O14773,Q9NVI7 35 |
| Weakness of muscles of respiration 0.3410851931364627 0.6489737053997682 0.5163553722393153 1.0 0.9250050841851156 36 O95140,Q7RTS9,P10253,Q969X5,Q13510,O95831,Q8TD16,Q15526 8 |
| Abnormal circulating free fatty acid concentration 0.5612781638415524 0.6468385840089151 0.5177364177842738 1.0 0.9250050841851156 4 P49748 1 |
| Progressive inability to walk 0.3822737135393123 0.6466567116713763 0.5178541452552636 1.0 0.9250050841851156 18 P21912,P00846,P54886,Q15043 4 |
| Distal lower limb amyotrophy 0.4138014495162087 0.6455040644146255 0.518600585240951 1.0 0.9250050841851156 13 Q15120,O95140,Q9NR77,P07196,Q92734 5 |
| Shoulder dislocation 0.5595084841267302 0.6398272407499739 0.5222849206204103 1.0 0.9267983388465788 4 Q96PU5 1 |
| Limb joint contracture 0.2966935080321388 0.6396784455986905 0.5223816712977722 1.0 0.9267983388465788 105 P50542,Q86XL3,P42892,P35637,O60313,Q7LGA3,P07196,Q99720,O43175,O75340,O75844,Q9Y619,P54886,Q15392,P23786,P16435,Q9NR77,Q96AY3,O43909 19 |
| Brain imaging abnormality 0.338450399685537 0.6390927812008113 0.5227625757580487 1.0 0.9267983388465788 38 P03886,P11166,P07602,Q969X5,O75306,Q05086,Q15526,Q9BT22,Q9NZJ7 9 |
| Upper limb amyotrophy 0.390282244007567 0.6382638161151838 0.5233019618811401 1.0 0.9267983388465788 16 Q15120,Q9NR77,Q8TB36,Q9BQT8,P07196 5 |
| Abnormality of the calf musculature 0.3940259969797403 0.6377538762260242 0.5236339083944381 1.0 0.9267983388465788 15 Q8NAT1,Q12768,Q9Y5P6,Q9NR77 4 |
| Myositis 0.4460192511325057 0.6370434391731069 0.5240965489703056 1.0 0.9267983388465788 9 Q9NZ08 1 |
| Angiofibromas 0.5204750229124776 0.6366959517292515 0.5243229110118919 1.0 0.9267983388465788 5 P21912,Q99643,Q15437 3 |
| Adenoma sebaceum 0.5204750229124776 0.6366959517292515 0.5243229110118919 1.0 0.9267983388465788 5 P21912,Q99643,Q15437 3 |
| Limb dystonia 0.3937990850399199 0.6363075428304039 0.5245759895971536 1.0 0.9267983388465788 15 Q99720,Q5BJH7 2 |
| Abnormal csf protein level 0.403058083770213 0.6348810739618479 0.5255059815015413 1.0 0.9271023396420466 14 Q9NR77,Q9NZJ7,P07602,P03886 4 |
| Hyperlipidemia 0.3429532603892965 0.6310458717551526 0.5280105314600649 1.0 0.9286046835842235 30 P22830,O43826,O75431,O95470,P23786,Q92734,P50416,P50402,O75844 9 |
| Papilloma 0.444125974250713 0.6273411509521787 0.5304356343773331 1.0 0.9286046835842235 9 P21912,Q15437,P16615 3 |
| Cutis laxa 0.3478968987030057 0.6250541786330163 0.5319355000740777 1.0 0.9286046835842235 26 Q6NUK1,P54886,P38435,Q8NCH0,P51812 5 |
| Finger agnosia 0.6816455696202516 0.6248954910490452 0.5320396518545936 1.0 0.9286046835842235 2 O96008 1 |
| Deposits immunoreactive to beta amyloid protein 0.6816455696202516 0.6248954910490452 0.5320396518545936 1.0 0.9286046835842235 2 O96008 1 |
| Generalized hyperpigmentation 0.437032279014104 0.62455705022677 0.5322618159864729 1.0 0.9286046835842235 11 P21281,P51648,Q13423 3 |
| Migraine 0.3600420890205918 0.6241604717601036 0.5325222034150756 1.0 0.9286046835842235 22 Q9NQZ5,O60313,P03886,Q9NZ08 4 |
| Patchy changes of bone mineral density 0.6707700415466459 0.6210431624222326 0.5345712244315055 1.0 0.9293346486495102 3 Q13126 1 |
| Restless legs 0.5164190151183046 0.6196433874714209 0.5354925951392886 1.0 0.9299270208070152 5 P07196 1 |
| Peptic ulcer 0.4361123801696099 0.6196154741454356 0.5355109765991473 1.0 0.9299270208070152 11 O76024,P04062 2 |
| Gliosis 0.3340718068168153 0.6162145133655123 0.5377529508814463 1.0 0.9316692462079768 40 Q6PJG6,Q7KZN9,Q9H9P8,P35637,O75306,P38606,Q15526,P49770,O43819,Q10713,Q92734,P00846,P04062 13 |
| Abnormality of the optic nerve 0.3373833322243502 0.6153926151169807 0.5382954672281692 1.0 0.9319010366592452 241 P21281,P50542,O60313,Q9H490,O43676,P38435,Q9H061,O95202,Q7LGA3,P07196,P00846,P40855,O76024,Q7KZN9,Q9P0J0,Q9H6K4,Q86Y39,O43292,Q96HR9,Q96CU9,Q9NPL8,Q15526,P10644,P50897,Q5XKP0,P51812,Q9NZ08,Q9BPX6,Q9BSJ2,Q15043,Q9Y263,Q86SQ9,O75381,P03886,P21964,P07602,O95831,Q9NZJ7,Q8WWV3,Q9Y5Y5,Q96PU5,Q10713,O43505,P04062,Q9Y287,Q9Y6M9,Q12768,O75306,O43681,Q6ZXV5,P56589,Q9UHX1,Q9NVI7,Q92734,O95298,Q9Y375 56 |
| Abnormal circulating copper concentration 0.4923579761099028 0.6139328850254986 0.5392596783461776 1.0 0.9324172236147992 6 O43819,P35670 2 |
| Bladder diverticulum 0.4354659746170762 0.6136238242381508 0.5394639365075959 1.0 0.9324172236147992 8 Q9NWM8 1 |
| Chordee 0.4919755202882667 0.6122402229200213 0.5403788328707391 1.0 0.9324172236147992 6 P53701 1 |
| Abnormality of bone mineral density 0.2823104226119667 0.6117622040704763 0.5406950996402158 1.0 0.9324172236147992 133 P54802,Q9H490,Q9Y4P3,O95202,Q96DX4,O43175,O75844,O43826,O43292,P54886,Q14739,Q15392,Q9HC07,Q9NWM8,Q15043,Q14108,Q9NSD9,P07602,Q13510,Q13126,O95831,Q9NZJ7,P04062,Q96AY3,P35670 25 |
| Decreased number of large peripheral myelinated nerve fibers 0.4913495224029097 0.6094714381899343 0.5422119988632499 1.0 0.9324172236147992 6 O15269,P07196 2 |
| Hamartomatous polyposis 0.5516839685080153 0.6090360328810862 0.5425005553689317 1.0 0.9324172236147992 4 P21912,Q15437 2 |
| Abnormality of salivation 0.3283161224085746 0.6088871331017786 0.5425992534001916 1.0 0.9324172236147992 44 Q15165,P35670,Q9NR77,P35637,Q05086,Q14739,P51812,Q92804,P55795,O43909 10 |
| Agnosia 0.4342404856346367 0.6074087368813669 0.543579691761289 1.0 0.9325392328821632 8 O75787,O96008,Q9UQN3,P43246 4 |
| Abnormal stomach morphology 0.3050911454825278 0.6011951660768986 0.5477100037298928 1.0 0.933823911749976 75 P40855,O76024,P50542,O75381,P21912,P54886,Q9Y4P3,Q14739,Q6ZXV5,P56589,P10644,Q9Y5Y5,Q96PU5,P51812,Q8NCH0,P04062 16 |
| Hip contracture 0.419575494711185 0.6000061643028458 0.5485021273130086 1.0 0.933823911749976 12 Q96AY3,Q969X5,Q7LGA3 3 |
| Lumbar hyperlordosis 0.3754108265376116 0.5995957474348422 0.5487756819698011 1.0 0.933823911749976 18 Q96HY6,Q9Y5P6,O95140,Q7RTS9,O75340,P04066,O43909 7 |
| Delayed eruption of permanent teeth 0.4889786073758254 0.5990047762736439 0.5491696995214734 1.0 0.933823911749976 6 O43826 1 |
| Steppage gait 0.3566387821510535 0.5986084715746007 0.5494340054663169 1.0 0.933823911749976 22 O15269,Q15120,O95140,Q9NR77,Q8TB36,P07196,P05023 7 |
| Abnormality of bladder morphology 0.4320045916472048 0.5976054644279969 0.5501032172389193 1.0 0.933823911749976 11 P16435,Q9NWM8 2 |
| Difficulty running 0.3875440392479384 0.5965607213464788 0.5508007020849575 1.0 0.933823911749976 15 Q3ZAQ7,Q9Y5P6,O95140,Q06210,Q8TD16,P07196,Q9BPX6,O75340 8 |
| Death in infancy 0.3044535521952395 0.5964609057767828 0.5508673630967964 1.0 0.933823911749976 65 P50542,O60826,Q13608,Q9BT22,Q9H0R6,Q9HC21,P40855,Q6NUK1,Q6PJG6,P16278,P49748,Q6DKJ4,O75381,P07602,Q9BUB7,Q9NZJ7,Q9Y5Y5,P02545,P04062,Q13277,Q13057,Q12768,P20674,P56589,O43819 25 |
| Aplasia hypoplasia of the patella 0.4883973397894299 0.5964435880052966 0.5508789290328826 1.0 0.933823911749976 6 Q9Y619 1 |
| Epileptic spasm 0.3034138352417614 0.5943682095142507 0.5522658663979478 1.0 0.933823911749976 60 P03886,Q13510,Q9UBX3,P00846,Q96N66 5 |
| Aplasia hypoplasia involving bones of the thorax 0.3354444133000886 0.5929359319007036 0.5532240298624465 1.0 0.933823911749976 35 P21281,Q8TAA9,Q7RTS9,Q12768,Q9Y619,Q14739,Q9UHX1,P16435,O75844 9 |
| Acetabular dysplasia 0.4432830964209336 0.5926412066940349 0.553421295832599 1.0 0.933823911749976 10 P08236,Q969X5,Q96L58,O43909 4 |
| Hyperreflexia 0.3354842740606791 0.5913143329376036 0.5543098278257257 1.0 0.933823911749976 240 Q9NW15,P50542,Q86XL3,P35637,O60313,Q9BQT8,Q9Y4P3,P17900,Q99720,P00846,O75340,Q96N66,P40855,Q7KZN9,Q9P0J0,Q9H6K4,O75503,O43292,Q7RTS9,O14949,Q9Y619,P13073,Q96CU9,Q96HR9,P54886,Q8NI60,Q14739,Q15526,P48643,Q5XKP0,Q9NZ08,Q9BSJ2,Q5THJ4,Q15043,Q86SQ9,O75381,P03886,Q9NR77,P07602,Q9UBB4,O95831,Q9NZJ7,Q15041,Q9Y5Y5,Q10713,Q6DKK2,Q9BRK0,P04062,O75208,P11166,Q5JRX3,Q12768,O75306,Q05086,O43681,P56589,O14773,Q92734,Q13409,O43909 60 |
| Ventricular tachycardia 0.4178898944939201 0.590573701300373 0.5548060901183578 1.0 0.933823911749976 12 P0DP25,P23786,P49748 3 |
| Occipital meningocele 0.4649163680121275 0.5884564578770056 0.55622595183121 1.0 0.933823911749976 7 P21964 1 |
| Regional abnormality of skin 0.2771304448859735 0.5878825569981342 0.5566111252418606 1.0 0.933823911749976 124 P21281,P50542,P21912,Q9Y4P3,O95202,P07858,Q7LGA3,P42166,O43175,P40855,Q6NUK1,P42167,Q969X5,Q14739,P51812,Q9Y263,O75381,Q9Y5Y5,Q8NCH0,Q06136,Q9H4L7,Q96AY3,Q15437,O75431,P56589,Q9UHX1,P16615,O43909 28 |
| Aplasia hypoplasia of the sacrum 0.6611969761626675 0.587662569706118 0.5567588041140752 1.0 0.933823911749976 3 Q8TAA9 1 |
| Nasal regurgitation 0.660652105096546 0.58577869594323 0.5580242419390111 1.0 0.933823911749976 3 Q13472,Q9BUF5 2 |
| Irritability 0.303915741917301 0.5857527179954674 0.5580417016488344 1.0 0.933823911749976 74 Q8N1F7,P11166,P21912,P07602,Q13510,P00846,Q5BJH7,O95831,O75792,Q9NZJ7,P50897,Q9NZ08,P61457,O43175 14 |
| Corpus callosum atrophy 0.3856392838717529 0.5845077242610794 0.558878769969924 1.0 0.9345387572654394 15 Q9Y5Y5,P54886,O75503 3 |
| Decreased proportion of cd4 positive helper t cells 0.4855391144802556 0.5838783488254001 0.5593021608590991 1.0 0.9345613241178058 6 O43909,Q9H0U3 2 |
| Extra axial cerebrospinal fluid accumulation 0.6699367088607578 0.582739554203675 0.5600686416045324 1.0 0.9345950836456208 2 Q03252 1 |
| Abnormality of the bladder 0.2815937559530579 0.5808158176094407 0.5613645933256677 1.0 0.9345950836456208 119 Q86XL3,P35637,Q9Y4P3,P07196,Q99720,O76024,P54886,P51812,P16435,Q9NWM8,Q8TAA9,P21964,Q9NR77,P07602,Q9UBB4,Q9NZJ7,Q8NCH0,Q9BRK0,P04062,P11166,Q12768,O43681,P56589,Q9UHX1 24 |
| Nyctalopia 0.3344747877985581 0.5802708058624867 0.5617320115294819 1.0 0.9345950836456208 34 P40855,Q86SQ9,P50542,Q6P4Q7,O75381,Q9Y287,Q96HR9,P38435,P56589,Q9Y5Y5,Q10713 11 |
| Abnormality of limb epiphysis morphology 0.3350495858400864 0.5800022187833623 0.5619131215395925 1.0 0.9345950836456208 32 P50542,Q7RTS9,O95202,O95831,Q7LGA3,P51812,P16435,Q96DX4,O43909 9 |
| Abnormal ossification involving the femoral head and neck 0.5064114184722708 0.5779778629953816 0.5632790649330759 1.0 0.93515257440154 5 Q7RTS9,Q96L58,Q14739 3 |
| Abnormal dermatoglyphics 0.3030513029065231 0.5747214305294971 0.5654797113765744 1.0 0.93515257440154 70 P21281,P40855,P50542,Q6NUK1,Q9Y263,O75381,O43909,Q969X5,Q9Y4P3,O95202,O75431,Q9UHX1,Q9Y5Y5,Q8NCH0,P51812,Q9H4L7 16 |
| Advanced eruption of teeth 0.4276011760870977 0.5741204734355418 0.5658862798914772 1.0 0.93515257440154 11 O75844 1 |
| Abnormality of earlobe 0.3414866087654124 0.5734964616287964 0.5663085942013906 1.0 0.93515257440154 26 Q15392,Q7LGA3,P21964,P53701 4 |
| Abnormality of the metacarpal bones 0.3294567888962681 0.5729153567554028 0.566702006188601 1.0 0.93515257440154 40 Q6NUK1,Q7RTS9,Q14739,O95202,O43924,P08236,P51812,P16435,Q96DX4,O43909 10 |
| Abnormality of upper limb joint 0.2853403957325536 0.5707308915738171 0.568182075178238 1.0 0.93515257440154 114 P50542,P42892,Q9Y4P3,O95202,Q7LGA3,P07196,Q96DX4,O43175,O75844,Q9H6K4,Q7RTS9,Q9Y619,P54886,Q969X5,Q15392,P23786,P16435,Q9NR77,Q13510,O95831,Q96AY3,O43909 22 |
| Aplasia hypoplasia of metatarsal bones 0.4263703250251214 0.5677254433684543 0.5702214121673315 1.0 0.93515257440154 8 Q96DX4,Q7RTS9,P10644,Q96S52 4 |
| Abnormal form of the vertebral bodies 0.3007515891152028 0.5667470803395702 0.5708860291629261 1.0 0.93515257440154 85 P21281,P54802,Q9Y4P3,O95202,Q96DX4,Q6NUK1,Q7RTS9,Q9Y619,Q14739,P08236,P51812,P16435,Q8TAA9,O95831,Q10713,Q96AY3,Q12768,Q9UHX1,P04066,O43909 20 |
| Talipes equinovarus 0.3017556500557105 0.5663223490835062 0.5711746703879548 1.0 0.93515257440154 80 Q96AY3,P50542,P21964,Q9NR77,Q7RTS9,Q9Y619,P54886,Q6ZXV5,Q8NI60,Q15392,P08236,O95202,Q8NCH0,P16435,Q9NWM8,Q96A33,Q8TAA9 17 |
| Decreased circulating copper concentration 0.6645569620253149 0.5637076017261036 0.5729531431056298 1.0 0.935837164745678 2 Q10567 1 |
| Brachydactyly 0.3016805439645776 0.5604568184434898 0.5751678855483231 1.0 0.9383860936415076 67 P21281,P11166,Q7RTS9,P21912,Q12768,Q15437,Q14739,O43924,O95831,P48449,P10644,Q9UHX1,P51812,P16435,Q96DX4,Q06136,O43909 17 |
| Multicystic kidney dysplasia 0.3642943918480611 0.5585418129298094 0.5764744606691581 1.0 0.939836803951148 19 P40855,P50542,O75381,Q9Y5Y5,Q10713 5 |
| Axonal degeneration regeneration 0.5380518148383359 0.5562754140186692 0.578022591840738 1.0 0.9410150013544324 4 O95140,Q8TB36 2 |
| Nausea and vomiting 0.2824535163724608 0.5556727139076166 0.5784346130396707 1.0 0.9411324224400838 139 P42892,P35637,Q9Y4P3,O43676,Q9UER7,Q9NP80,P00846,O43175,Q86Y39,Q9Y619,P54886,Q96CU9,P23786,Q9NZ08,P49748,P11117,Q15165,P22695,P03886,Q9NSD9,P07602,Q9NZJ7,Q5HYI8,Q9Y6M9,O75306 25 |
| Abnormal periventricular white matter morphology 0.3275358677619679 0.5549625548692027 0.5789202730141305 1.0 0.9411324224400838 40 O75503,P07602,O60313,P54886,O43681,O95202,P17900,Q9UHX1,Q9NZJ7,P51571,O95298 11 |
| Epispadias 0.5007346121849836 0.554623160370528 0.5791524440283315 1.0 0.9411743210153928 5 Q9Y619 1 |
| Back pain 0.3398065959063932 0.5527383944010376 0.5804425585645121 1.0 0.9415595850529056 25 Q5HYI8,P54886,Q8TAA9 3 |
| Insulin resistance 0.3803040863851737 0.5508873353885593 0.5817109097066004 1.0 0.942644544513894 15 O75844 1 |
| Kyphosis 0.2866884026484456 0.5495835054422625 0.582605074788709 1.0 0.94282089942348 147 P21281,Q9Y4P3,O95202,Q9BT22,Q7LGA3,Q96DX4,O75844,Q7RTS9,P54886,Q14739,P08236,Q15526,Q9HC07,P51812,Q9NWM8,P51648,Q9Y263,Q9Y606,Q14108,Q9NR77,O95831,Q8NCH0,P04062,Q96AY3,Q12768,Q9UHX1,P04066,O43909 28 |
| Staring gaze 0.660443037974682 0.54930472008964 0.5827963486765886 1.0 0.94282089942348 2 P42858 1 |
| Choking episodes 0.660443037974682 0.54930472008964 0.5827963486765886 1.0 0.94282089942348 2 P42858 1 |
| Vomiting 0.2971427761612695 0.5486090911439285 0.5832737455598678 1.0 0.9431099187446093 92 P22695,P03886,Q9NSD9,Q86Y39,Q9Y6M9,P07602,Q9Y619,O75306,Q96CU9,P54886,O43676,P49748,P23786,Q9NP80,P00846,P11117 16 |
| Vertebral segmentation defect 0.3330256484030231 0.5471174092554727 0.5842980725270799 1.0 0.9434841397746048 30 P21281,Q12768,Q9Y619,Q9Y4P3,Q9UHX1,P16435,Q8TAA9 7 |
| Late onset 0.4280987322324268 0.5460533328512592 0.5850292771234193 1.0 0.9436907466769424 9 O76024 1 |
| Abnormal mitochondrial morphology 0.4280877651183288 0.5459982828535836 0.5850671175635997 1.0 0.9436907466769424 9 P46976 1 |
| Functional abnormality of the inner ear 0.3343818319618704 0.5457266897646408 0.5852538227198232 1.0 0.9436907466769424 244 P21281,P46976,P50542,Q16740,P42892,O60313,P35637,Q9Y4P3,O43676,O95202,Q9H061,Q7LGA3,P07196,Q9NR28,Q9NP80,P00846,O75844,P40855,O76024,Q86Y39,P42167,Q96HR9,P54886,Q96CU9,Q9NPL8,O95470,Q15526,Q5XKP0,P51812,Q9NZ08,Q9NWM8,Q15043,Q9Y263,Q86SQ9,O75381,P03886,Q9NR77,P23634,P07602,Q13510,O95831,Q9NZJ7,Q9Y5Y5,P0DP25,P04062,Q9Y6M9,O00165,O75306 48 |
| Abnormal acetabulum morphology 0.3623735124006637 0.5451582567226402 0.5856446784120297 1.0 0.9439417820322564 19 Q96AY3,Q7RTS9,Q969X5,P08236,Q96L58,O43909 6 |
| Abnormal cns myelination 0.2799185633723812 0.5426713147300475 0.5873561278895316 1.0 0.9441815602733766 136 P35637,Q9H490,O43676,O75792,Q7LGA3,Q99720,O43175,O75340,P40855,Q7KZN9,Q9P0J0,Q86Y39,Q96CU9,Q5BJH7,Q15526,P51648,P03886,O14617,P07602,O95831,Q9NZJ7,Q9Y5Y5,Q9Y6M9,O75306 24 |
| Cholecystitis 0.4213098424015701 0.5424369157356719 0.5875175545507223 1.0 0.9441815602733766 8 Q9NZJ7,P07602 2 |
| Weak cry 0.4214289550603861 0.5414100267203436 0.5882249976697915 1.0 0.9444739399205104 11 Q13510,O75208 2 |
| Abnormality of circulating enzyme level 0.2957301469585053 0.5403597990898885 0.5889489261338132 1.0 0.9453034506054868 94 Q7Z392,Q15120,P10253,Q9Y4P3,P42166,P07196,O75340,Q8NAT1,P42167,Q969X5,P23786,Q9HC07,Q86VD7,P49748,Q9NWM8,Q9BPX6,P13473,O95831,P50416,P50402,O43505,Q9Y5P6,Q3ZAQ7,O14979,Q5JRX3,Q6ZXV5,O14653,Q92734 28 |
| Hypoparathyroidism 0.374807126502351 0.5380428546224719 0.5905474629660161 1.0 0.9464916304122056 16 P03886,P21964 2 |
| Abnormal renal cortex morphology 0.2999917205651807 0.5377827922662628 0.5907270131914775 1.0 0.9464916304122056 55 Q14108,O43826,P03886,O95470,Q9NZ08,P00846 6 |
| Decreased facial expression 0.334605081690593 0.5364264778782935 0.591663836028306 1.0 0.946846653103909 28 Q9Y263,Q9Y5P4,Q969X5,Q05086,Q9Y5P6,P04062,Q15043 7 |
| Abnormality of fundus pigmentation 0.6457932845030847 0.5351176316706487 0.5925685184978082 1.0 0.946846653103909 3 Q9Y619 1 |
| Hypopigmentation of the fundus 0.6457932845030847 0.5351176316706487 0.5925685184978082 1.0 0.946846653103909 3 Q9Y619 1 |
| Aplasia hypoplasia of the femur 0.3777025063082591 0.5345738428288567 0.592944575100173 1.0 0.9470498292317998 15 P50542,O00116,O95831,Q9UHX1,Q96DX4 5 |
| Fasting hypoglycemia 0.6452821038840509 0.5334002687120895 0.5937565315378093 1.0 0.9472680839266316 3 Q9NSE4 1 |
| Metaphyseal dysplasia 0.4075704951893054 0.5332339714768067 0.5938716281443306 1.0 0.9472680839266316 12 Q07864,Q7RTS9,O95831,Q9HC07,O43909 5 |
| Dysmetric saccades 0.4526252113332223 0.5311478831700001 0.5953163049239047 1.0 0.9472680839266316 7 Q9NW15,O14773 2 |
| Epiphyseal dysplasia 0.452289325088331 0.5295956923352151 0.5963922816520024 1.0 0.9477555255904068 7 Q7RTS9,Q9HC07,O43909 3 |
| Gastroesophageal reflux 0.2731855454564556 0.5293971499565581 0.5965299748473492 1.0 0.9477555255904068 126 P21281,Q9Y4P3,O95202,Q96A33,P00846,O43175,Q6NUK1,Q9Y619,P54886,Q14739,P16435,P49748,Q86SQ9,O15269,P21964,Q9NSD9,P07602,Q9NZJ7,Q96PU5,Q12768,Q6ZXV5,Q9UHX1,P51571 23 |
| Limited hip movement 0.37627104797153 0.5256219018979404 0.5991509361508547 1.0 0.9488259488269908 15 Q96AY3,Q7LGA3,O75844 3 |
| Ocular albinism 0.4721185284862902 0.5255670105187229 0.5991890828865949 1.0 0.9488259488269908 6 O14617 1 |
| Kinetic tremor 0.328203487392562 0.5252837498325934 0.599385952245485 1.0 0.9488259488269908 34 Q9NW15,Q9Y287,Q14108,P07602,O43681,Q9UBB4,Q9NZJ7,P04080 8 |
| Hypoplasia of the brainstem 0.3303890586273324 0.5250129379029734 0.5995741969708401 1.0 0.9488259488269908 30 Q13057,O14936,Q9UPT5,Q6ZXV5,P07437,Q96EK5,Q10713,O43505,Q13885,Q9Y5P6,Q13409 11 |
| Positional foot deformity 0.2912110342261189 0.5248684464385254 0.5996746457279358 1.0 0.9488259488269908 101 P50542,O95202,P07196,Q96A33,Q7RTS9,Q9Y619,P54886,Q8NI60,Q15392,P08236,P16435,Q9NWM8,Q8TAA9,P21964,Q9NR77,Q8NCH0,Q96AY3,Q6ZXV5,Q9UHX1,Q9NVI7 20 |
| Abnormal shape of the occiput 0.3313197497881698 0.5204408858029065 0.6027563195234444 1.0 0.9511728549738474 29 P21281,P40855,P50542,O75381,Q12768,Q05086,Q13608,P56589,Q9Y5Y5,O43175 10 |
| Difficulty standing 0.4501578225057909 0.5197641235750854 0.6032279875113034 1.0 0.9511728549738474 7 O43292,Q7RTS9 2 |
| Abnormal peristalsis 0.4500621891168991 0.5193237717153284 0.6035349789233151 1.0 0.9511728549738474 7 Q7Z392,Q9NSE4,Q9NRG9,P06280 4 |
| Abnormal ldl cholesterol concentration 0.3913866507308624 0.5143407022963844 0.607013809370305 1.0 0.9525965924156852 13 Q9UJS0,P02545,P48643,Q8N511,P50402,Q9Y6B6,Q15800 7 |
| Hepatic cysts 0.5267405948713028 0.5134517939163735 0.6076353231714031 1.0 0.9525965924156852 4 O43909 1 |
| Short ribs 0.4486854741773515 0.5129919061775076 0.6079569824103144 1.0 0.9525965924156852 7 Q9Y619,Q96HY6,Q14739 3 |
| Abnormality of the nasal septum 0.4903723478875709 0.5125696595809909 0.6082523811405229 1.0 0.9525965924156852 5 P51812 1 |
| Cholestasis 0.2977323217137911 0.510802971808118 0.6094890280198129 1.0 0.9525965924156852 77 P40855,P00374,P50542,O75381,P11166,Q9NSD9,P35670,Q15437,Q13510,Q14739,O75792,O15118,P10644,Q5HYI8,Q9Y5Y5,P49748 16 |
| Lack of insight 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Grammar specific speech disorder 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Eeg with continuous slow activity 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Alexia 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Collectionism 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Expressive aphasia 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Senile plaques 0.6474683544303781 0.5047850379429364 0.6137098257274325 1.0 0.9525965924156852 2 Q9UQN3 1 |
| Increased susceptibility to fractures 0.3075833335831855 0.5009855127569302 0.616381318763737 1.0 0.9533371398613736 50 Q96AY3,Q14108,O43826,P35670,Q13126,Q14739,P10644,P16435,P04062 9 |
| Prolonged bleeding following procedure 0.6353561928055074 0.500411559883543 0.6167853153450262 1.0 0.9533371398613736 3 O43826 1 |
| Head tremor 0.3806387212591424 0.4990786811073281 0.6177239556786596 1.0 0.9533371398613736 14 Q99720,P07196 2 |
| Fatigue 0.296513421528254 0.4978564612039101 0.6185852167851893 1.0 0.9533371398613736 79 Q15165,Q70HW3,P21912,P07602,Q53H12,P35637,O60313,Q14739,Q4J6C6,Q9NZJ7,P50416,Q13423,Q5HYI8,P10644,Q9NZ08,Q9NP80,P04062 17 |
| Hypoventilation 0.3883687399816419 0.4969671002575008 0.6192122519039325 1.0 0.9533371398613736 13 P11047,Q15526,O75306 3 |
| Abnormal sternal ossification 0.5222249220511764 0.4966213998812243 0.6194560593639564 1.0 0.9533371398613736 4 Q9Y619 1 |
| Abnormal t wave 0.5221434791196583 0.496319315102975 0.6196691409098929 1.0 0.9533371398613736 4 P0DP25 1 |
| Thyroiditis 0.4238463956426933 0.4945201849012886 0.6209388546938008 1.0 0.9538765188690944 10 Q15437,O43826 2 |
| Abnormality of muscle size 0.3070261186497536 0.4889832333646317 0.6248535671979363 1.0 0.9564727312596808 192 Q7Z392,P21281,P46976,P50542,Q8IY17,Q15120,P21912,P10253,P35637,O60313,Q13608,Q9BQT8,Q6P4A7,Q9Y4P3,Q7LGA3,P07196,Q99720,P11047,Q96A33,O43175,Q8NAT1,O95140,Q969X5,P54886,Q9NPL8,P48643,Q15526,Q16637,P10644,P51812,Q9NWM8,Q92804,P13473,Q5THJ4,O00400,Q15165,Q9Y606,O15269,Q9NR77,Q13126,Q13510,O95831,Q8TD16,P50416,Q10713,P50402,O43505,Q6DKK2,Q9Y5P6,Q3ZAQ7,Q13057,O14979,Q12768,Q15437,Q05086,Q9NVI7,Q92734,P04066 58 |
| Abnormality of facial soft tissue 0.2782637721414513 0.4864090035559452 0.626677208232191 1.0 0.9579778979345596 116 P50542,P21912,O60313,Q9BQT8,Q9Y4P3,P07196,O75340,O75844,P40855,Q15526,P51812,P16435,Q86VD7,Q15043,Q9Y263,O75381,Q13510,Q9Y5Y5,P04062,Q8N1F7,Q12768,Q15437,P56589,Q9UHX1 24 |
| Abnormality iris morphology 0.2951666228164916 0.4860386591586156 0.6269397565708115 1.0 0.9580580730438674 82 Q7Z392,P50542,Q8IY17,P21912,Q13608,P38606,Q9Y4P3,O95202,Q7LGA3,O75340,Q8NAT1,P40855,P10644,O75381,O14617,Q12797,Q9NR77,Q86YV9,Q9Y5Y5,Q96EK5,Q10713,O43505,Q9Y5P6,Q12768,Q05086,P53701,P56589,Q9UHX1 28 |
| Aplasia hypoplasia of the scapulae 0.5192724110581809 0.4857039181954898 0.6271771052256407 1.0 0.9580996984351496 4 P16435 1 |
| Abnormal cortical bone morphology 0.3681606019208335 0.4752550506979543 0.6346051931482193 1.0 0.9649215340966588 15 P40855,Q9NSD9 2 |
| Hemoglobinuria 0.516001918364855 0.473693418028588 0.6357185476436187 1.0 0.9656484268004336 4 O14936,Q9H0P0 2 |
| Ophthalmoparesis 0.2946967914634307 0.4720588936761688 0.636884752165928 1.0 0.9658112636769642 76 Q86SQ9,O76024,Q7KZN9,Q9P0J0,P03886,Q96HR9,O75306,Q96CU9,Q15526,Q10713,Q9BPX6,P00846,P04062 13 |
| Posterior fossa cyst 0.6259390924114976 0.4697751758554179 0.63851565180684 1.0 0.9663373421211702 3 Q9UHX1 1 |
| Coarse hair 0.3513288980548146 0.4689347179816817 0.6391162994164099 1.0 0.9663373421211702 19 Q6NUK1,P54802,Q9Y5P4,P51812,Q96A33 5 |
| Open mouth 0.3249423862190144 0.4681252930152083 0.6396949926526412 1.0 0.9663373421211702 29 P21281,Q86XL3,O43909,P51812,Q10713,P04062 6 |
| Microdontia 0.3272371722801154 0.4678693700869802 0.6398780087717633 1.0 0.9663373421211702 27 P21281,Q6NUK1,Q9Y619,Q7LGA3,Q96A33 5 |
| Flat face 0.3271648570369638 0.4672948654547378 0.6402889294827268 1.0 0.9663373421211702 27 P40855,P50542,Q15555,O75381,Q9UM00,Q96C86,Q13608,Q9BUB7,P56589,P07437,P08236,Q96L58,Q9Y5Y5,O60716,Q9NX62 15 |
| Abnormal systemic blood pressure 0.2910909711456901 0.4666393605650238 0.6407579212683983 1.0 0.9663373421211702 92 Q8TAA9,P03886,P21964,Q9NSD9,O43826,P21912,P07602,P42892,Q9UER7,O43681,Q9Y4P3,Q9NZJ7,P10644,P16435,Q10713,P04062,O75844 17 |
| Delayed epiphyseal ossification 0.5131843393610522 0.4634178440172471 0.6430648907124537 1.0 0.9681042146910032 4 Q9UG56,Q96L58 2 |
| Generalized joint laxity 0.4064423562713239 0.4631645609006996 0.6432464164007361 1.0 0.9681042146910032 11 Q8NCH0 1 |
| Abnormal circulating protein concentration 0.2825042280970467 0.4617462159178651 0.6442633245271716 1.0 0.9681042146910032 149 Q7Z392,Q15120,P10253,Q13608,P38606,Q9Y4P3,P14174,Q9BT22,P42166,Q8N511,P07196,O75340,Q8NAT1,P42167,Q969X5,O95470,P23786,Q5XKP0,Q9HC07,Q86VD7,Q9NWM8,P49748,Q9BPX6,P13473,O00400,Q9Y606,Q9NSD9,O95831,P50416,P50402,O43505,Q9Y5P6,Q3ZAQ7,Q8N1F7,O14979,Q5JRX3,Q6ZXV5,O14653,Q92734 39 |
| Abnormality of lower limb epiphysis morphology 0.3501431439089155 0.4608336029781647 0.6449179912441454 1.0 0.9681042146910032 19 P50542,O95831,Q7LGA3,Q96DX4,O43909 5 |
| Coarse facial features 0.2926924909508243 0.4608205504325685 0.6449273565409619 1.0 0.9681042146910032 63 P21281,P10619,Q9Y263,P54802,Q9Y4P3,O95831,P08236,Q7LGA3,P51812,Q96A33,P04066,O43909 12 |
| Leukonychia 0.4565541283640982 0.4595664895443265 0.6458274169057088 1.0 0.9681042146910032 6 P16615,P15924,Q13608 3 |
| Abnormality of nail color 0.4565541283640982 0.4595664895443265 0.6458274169057088 1.0 0.9681042146910032 6 P16615,P15924,Q13608 3 |
| Recurrent fever 0.3616881715484283 0.4546789846354901 0.6493402019800176 1.0 0.9710154053657032 16 Q13510 1 |
| Abnormal cranial nerve morphology 0.2917781866260742 0.4527123531889664 0.6507558831293867 1.0 0.9719773426367518 62 P50542,Q99643,P21912,Q13608,P07196,P11047,O75340,P40855,P10644,P51812,Q15043,O75381,Q9BUF5,Q13510,Q9Y5Y5,Q92796,Q9Y5P6,P56589,Q9UHX1,O43819,Q92734 21 |
| Absent hair 0.4152667839926206 0.4521039647543232 0.65119408759358 1.0 0.9723133724383513 10 O75844,O43175,P15924,P14923 4 |
| Incomplete penetrance 0.3200061424582033 0.4514673281469573 0.6516527674638981 1.0 0.9724945430366811 32 Q3ZAQ7,P03886,P11166,O95140,P21912,O60313,Q9UBB4,Q92733,P00846 9 |
| Abnormal lower limb bone morphology 0.2884802289889249 0.4504808140711526 0.6523637852196609 1.0 0.9724945430366811 161 P21281,P50542,O43924,O95202,Q7LGA3,Q96DX4,Q96A33,O43175,O75844,Q7RTS9,Q9Y619,P13073,Q969X5,Q14739,Q15392,P08236,P10644,P51812,P16435,Q9Y263,P21964,Q9UPT5,P07602,Q13510,O95831,Q9NZJ7,Q10713,O43505,P04062,Q96AY3,Q9UHX1,P04066,O43909 33 |
| Eeg with irregular generalized spike and wave complexes 0.6196098604946529 0.4495685700904387 0.6530215549952452 1.0 0.9724945430366811 3 Q9NQZ5 1 |
| Mortality aging 0.27960299758641 0.4476207871976125 0.6544268983814585 1.0 0.9733370857985432 111 P50542,Q9Y4P3,O75792,Q9BT22,O43175,O75844,P40855,Q6NUK1,Q9NPL8,Q14739,P51812,P16435,P49748,O75381,P07602,Q9NZJ7,Q9Y5Y5,P04062,Q12768,O75431,Q9NVI7 21 |
| Abnormal uvea morphology 0.2866731981854417 0.4460432372741724 0.6555660139029209 1.0 0.9733370857985432 99 Q7Z392,P50542,O14936,Q8IY17,P21912,Q13608,P38606,Q9Y4P3,P14174,O95202,Q7LGA3,O75340,Q8NAT1,P40855,Q9Y619,P10644,Q5XKP0,O75381,O14617,Q12797,Q9NR77,Q86YV9,Q9Y5Y5,Q96EK5,Q10713,O43505,Q9Y5P6,Q12768,Q05086,P53701,P56589,Q9UHX1 32 |
| Crumpled long bones 0.6294303797468337 0.4453656199841243 0.6560555533635057 1.0 0.9733370857985432 2 P07237 1 |
| Bilateral sensorineural hearing impairment 0.3358145748678264 0.4448008807299891 0.6564636578411753 1.0 0.9733370857985432 22 Q9NZJ7,P07602,P35637,P03886 4 |
| Broad foot 0.407580138850337 0.444727588363817 0.6565166295244791 1.0 0.9733370857985432 9 O95831,O43175 2 |
| Bilateral single transverse palmar creases 0.3600125459185017 0.4441620091210423 0.6569254570877816 1.0 0.9733370857985432 16 P40855,P50542,O75381,Q8IY17,P56589,Q9Y5Y5 6 |
| Abnormality of lipoprotein cholesterol concentration 0.3713080460804578 0.4438117795334036 0.6571786711853194 1.0 0.9733370857985432 14 Q9UJS0,P02545,P48643,Q8N511,P50402,Q9Y6B6,Q15800 7 |
| Chorioretinal coloboma 0.45243355719462 0.4424260988099324 0.6581808965597165 1.0 0.9733370857985432 6 Q10713,Q12768,O14936 3 |
| Lipodystrophy 0.3186119607213807 0.4422346345273939 0.6583194258584633 1.0 0.9733370857985432 34 Q6NUK1,P42167,P38606,O75431,P08069,O75792,P42166,P50402,P04066,O75844 10 |
| Abnormal lumbar spine morphology 0.4021301173787363 0.4410058878234535 0.6592087345040822 1.0 0.9733370857985432 11 P08236,P04062,P51812 3 |
| Cupped ribs 0.4520765558780623 0.4409481416000735 0.659250540352111 1.0 0.9733370857985432 6 O95831,P00813 2 |
| Abnormality of the posterior pituitary 0.4004308878049578 0.4403478182313952 0.6596852123731074 1.0 0.9733370857985432 8 O76024 1 |
| Abnormal aortic valve morphology 0.3150613720757516 0.4396214348767375 0.6602113134238716 1.0 0.9733370857985432 40 Q6NUK1,P21964,Q9UHX1,P51812,O75844,P04062 6 |
| Prenatal movement abnormality 0.2887747043213914 0.4383418287758748 0.6611385082682504 1.0 0.9733370857985432 56 P40855,Q86SQ9,Q7KZN9,Q70HW3,Q969X5,P38606,O95202,Q8TD16,Q4J6C6,P56589,Q16637,P04062,O43175,Q9Y5P6,Q9HC21,O75844 16 |
| Abnormal pleura morphology 0.3460183157463152 0.4327924987079215 0.6651655234127087 1.0 0.9733370857985432 19 Q9NZ08,Q6NUK1,P08236,Q8NCH0 4 |
| Lissencephaly 0.2905349318767882 0.4313635684605703 0.666204035444653 1.0 0.9733370857985432 55 Q8NAT1,Q86XL3,O14936,Q16625,P23258,O43505,P38606,Q6ZXV5,P23786,Q15392,Q96EK5,Q9BSJ2,O43175,Q9Y5P6 14 |
| Macular purpura 0.3502758662731218 0.4307459788073672 0.6666530829886703 1.0 0.9733370857985432 18 P38435,P04062,Q8NCH0 3 |
| Nephrolithiasis 0.3293699826486047 0.4303484020965464 0.666942223017347 1.0 0.9733370857985432 23 P35670,O43826,Q8NCH0,Q9Y4P3 4 |
| Nonprogressive 0.430265232511264 0.4297166069054582 0.6674018015946279 1.0 0.9733370857985432 7 Q9NQZ5,Q10713,Q9BUF5 3 |
| Aplasia hypoplasia of the ribs 0.3291731813430577 0.4288922668461793 0.6680016281941037 1.0 0.9733370857985432 23 P21281,Q12768,Q9Y619,Q9UHX1,Q8TAA9 5 |
| Upper limb muscle weakness 0.322264079369664 0.4285515989071738 0.6682495753425828 1.0 0.9733370857985432 27 P46976,O95140,Q969X5,Q92734,P07196,P50402,P00846 7 |
| Micromelia 0.345251739257007 0.4276061984440178 0.6689378523978327 1.0 0.9733370857985432 19 Q14739,Q9UHX1,Q15392,P10644,O43175 5 |
| Rickets 0.4297785587679146 0.4275561900063873 0.6689742676445296 1.0 0.9733370857985432 7 Q9NSD9 1 |
| Abnormal renal insterstitial morphology 0.368412896655138 0.4268497072267571 0.6694887988874914 1.0 0.9733370857985432 14 P23786,O43826,Q9Y4P3 3 |
| Abnormal femoral head morphology 0.333231123246582 0.4261006067560563 0.6700345380912114 1.0 0.9733370857985432 22 P50542,Q7RTS9,O75431,O95831,Q7LGA3,Q96L58,Q96DX4,O43909 8 |
| Absent hypoplastic paranasal sinuses 0.6119467787232873 0.4255388895320838 0.670443878035607 1.0 0.9733370857985432 3 P04066 1 |
| Diaphyseal thickening 0.6117202180429907 0.4248359291577684 0.670956283886021 1.0 0.9733370857985432 3 P08236 1 |
| Keratoconjunctivitis 0.4033422671929048 0.4242702124476514 0.6713687604634633 1.0 0.9733370857985432 9 Q9NZ08 1 |
| Progressive microcephaly 0.3115369266898879 0.4242048754828236 0.6714164054711185 1.0 0.9733370857985432 42 Q9Y263,Q5KU26,Q6PJG6,O14936,P11166,O43909,P38606,O75792,Q9BT22,P50897,Q9BSJ2,Q9HC21,Q15043 13 |
| Congenital nystagmus 0.3567422653428067 0.4237322713619939 0.6717610770603146 1.0 0.9733370857985432 16 P00846,Q7LGA3 2 |
| Abnormal involuntary eye movements 0.3402361223615052 0.4226638595007582 0.6725405273310192 1.0 0.9733370857985432 278 Q9NW15,P21281,P50542,Q6P4Q7,P35637,Q53H12,O60313,Q9H490,Q9Y4P3,O43676,O43924,Q9H061,P17900,Q9BT22,Q7LGA3,P07196,O95202,O75792,Q99720,P00846,O43175,O75340,P40855,Q6NUK1,O76024,Q7KZN9,Q9P0J0,Q9H6K4,O75503,Q86Y39,O43292,Q96HR9,P54886,Q96CU9,Q9NPL8,Q15392,Q15526,Q5XKP0,Q5THJ4,Q9Y263,Q86SQ9,O75381,P03886,O14617,Q9NR77,P07602,Q13510,Q9UBB4,O95831,Q9NZJ7,Q8WWV3,Q9Y5Y5,Q10713,Q6DKK2,Q8IV08,P04062,P11166,Q9Y6M9,O75306,Q05086,P56589,O14773,Q9NVI7,Q9Y375,O43909 65 |
| Abnormality of the autonomic nervous system 0.2871548211280664 0.4199780748964151 0.6745014706141097 1.0 0.9739476586448196 56 O76024,P0DP25,O15269,P21964,P42892,P07602,P48643,Q9NZJ7,Q10713,P04062 10 |
| Aplasia hypoplasia involving the femoral head and neck 0.408434626061078 0.4187939576522665 0.6753667211641368 1.0 0.9743872647288264 10 P50542,O75431,O95831,Q96L58,Q96DX4 5 |
| Glomerular deposits 0.6208860759493652 0.4183117006175692 0.6757192359767246 1.0 0.9743872647288264 2 P57740 1 |
| Abnormal circulating igm level 0.3587543692405443 0.417698167497029 0.6761678122907233 1.0 0.9743872647288264 15 Q13724,Q15904,P50851,Q96MG7,Q9Y2Q5,P00813,Q05655,Q9Y5L0,P49327,Q96AX1,Q96BN8,Q969N2,O95394,O43909 14 |
| Meningitis 0.4462905345116261 0.4171575418629379 0.6765631785922972 1.0 0.9743872647288264 6 Q9NZ08 1 |
| Degeneration of the striatum 0.4993375670978348 0.4139400084723935 0.6789180424983607 1.0 0.9743872647288264 4 O75792 1 |
| Retinal atrophy 0.3223625354335112 0.4129037374672622 0.6796771426830399 1.0 0.9743872647288264 24 P51648,Q96HR9,Q7LGA3,P04062 4 |
| Abnormal globus pallidus morphology 0.4063268238112191 0.4086082261390616 0.6828271928233962 1.0 0.975285792226998 10 Q15526,Q13057,O75306 3 |
| Convex nasal ridge 0.3424307211449002 0.4085915907012065 0.682839402965608 1.0 0.975285792226998 19 O95202,Q6NUK1,Q12797,O75844 4 |
| Fibroadenoma of the breast 0.606411267329656 0.4084900513275381 0.6829139330221063 1.0 0.975285792226998 3 P10644 1 |
| Lactic acidosis 0.2860497938206709 0.4081187101870043 0.6831865243115871 1.0 0.9753395474361372 94 Q53H12,Q6P4A7,O43676,Q9NP80,O43826,Q86Y39,Q96CU9,Q9NPL8,Q8NI60,Q15526,Q5XKP0,Q86VD7,Q9Y606,P03886,Q70HW3,Q10713,O75208,Q9Y6M9,O75306 19 |
| Abnormality of the carpal bones 0.3570366664027897 0.4072998274998689 0.6837877894711735 1.0 0.9753395474361372 15 Q7RTS9,P54886,Q96L58,P16435,Q96DX4,O43909 6 |
| Sparse or absent eyelashes 0.3344170957390192 0.4050147161819806 0.6854666937084528 1.0 0.9764869677410092 21 Q969E8,P02545,P04080,Q15427,Q9NPE3,P48449,P15924,P14923,O43175,O75844 10 |
| Abnormal magnesium concentration 0.4617964929581836 0.4011392693959265 0.6883175903274534 1.0 0.9782389836794264 5 P61457,P05023 2 |
| Cutaneous photosensitivity 0.3293119987213386 0.3979289459979886 0.6906825624017388 1.0 0.9783580009937138 22 Q14108 1 |
| Chronic diarrhea 0.3405476207217613 0.395963414164321 0.6921320182932473 1.0 0.9783580009937138 19 Q96A33,Q13510 2 |
| Cachexia 0.340387329688767 0.3948909580496952 0.6929233632765719 1.0 0.9783580009937138 19 Q99720,P07602 2 |
| Abnormality of hand joint mobility 0.4600658524242729 0.3946351959641083 0.6931121347901315 1.0 0.9783580009937138 5 Q9Y263 1 |
| Hyperextensibility of the finger joints 0.4600658524242729 0.3946351959641083 0.6931121347901315 1.0 0.9783580009937138 5 Q9Y263 1 |
| Abnormality of the gingiva 0.3021198204550124 0.3936197565158243 0.6938617928100155 1.0 0.9783580009937138 47 P21281,Q14108,O43826,O43909,Q14739,Q9Y4P3,Q15392,P08236,P04062 9 |
| Coxa vara 0.3624096255836365 0.3919911449059908 0.6950647566418717 1.0 0.9786459814890602 14 O95831,P50542,Q96DX4,Q96AY3 4 |
| Decreased circulating total igm 0.3961306692039523 0.389886437572308 0.6966205231342519 1.0 0.9798992004643604 9 Q13724,Q15904,P50851,Q9Y2Q5,P00813,Q05655,P49327,O43909 8 |
| Abnormality of the calcaneus 0.3961079797090235 0.3897791536603956 0.6966998599710617 1.0 0.9798992004643604 9 Q7RTS9,Q96DX4,O43175 3 |
| Unsteady gait 0.2985503148763416 0.3893286639944258 0.6970330348966094 1.0 0.9798992004643604 49 Q86SQ9,Q9H6K4,O75503,P11166,Q9NR77,Q5JRX3,Q9UBB4,O95831,P07196,Q10713,Q5THJ4 11 |
| Prolonged partial thromboplastin time 0.4584671274419346 0.3886542197936316 0.6975319522241694 1.0 0.9798992004643604 5 P38435 1 |
| Abnormal cervical spine morphology 0.4578333844652609 0.3862906801108707 0.6992814020630767 1.0 0.9798992004643604 5 Q8NCH0 1 |
| Proximal muscle weakness in upper limbs 0.3608778288560983 0.383168484514675 0.7015948438035053 1.0 0.981585009350489 14 O95140,Q9Y6X9,P07196,P50402,Q9Y5P6 5 |
| Abnormal patella morphology 0.3154727201329675 0.382883954812429 0.7018058086998682 1.0 0.981585009350489 28 Q96AY3,P21964,Q9Y619,Q6ZXV5,Q96PU5 5 |
| Ventricular fibrillation 0.4895927927679023 0.3802127397489167 0.7037875031696323 1.0 0.9836507755962516 4 P46976,P49748 2 |
| Dysdiadochokinesis 0.3675896812473111 0.3798094446956681 0.7040868709531063 1.0 0.9836507755962516 13 O75503,Q9UBB4 2 |
| Abnormal bleeding 0.2762825488269483 0.377490861628781 0.7058088543053938 1.0 0.9852428908003892 109 P38435,Q9UER7,O75844,O76024,O43826,Q14739,P23786,Q9NZ08,Q9NWM8,P11117,Q14108,P21964,Q13126,Q96PU5,Q8NCH0,P04062,P35670,Q6ZXV5,Q9UHX1 19 |
| Abnormal circulating bilirubin concentration 0.3147386926210974 0.3771178400160674 0.7060860339179142 1.0 0.9852428908003892 28 P40855,P23786,Q9NSD9,Q14739 4 |
| Sparse eyelashes 0.3489952521189562 0.3758850221614839 0.7070023759532993 1.0 0.9852428908003892 16 Q969E8,Q15427,Q9NPE3,P48449,P15924,P04080,P02545,O75844 8 |
| Diarrhea 0.2866898577329733 0.3754437841409768 0.7073304473400963 1.0 0.9852428908003892 71 Q14566,O43826,P03886,P54802,P42892,Q13510,Q9BT22,P50416,Q5HYI8,Q96A33 10 |
| Abnormal circulating acetylcarnitine concentration 0.4357341293787559 0.3745920685109906 0.7079638726564839 1.0 0.9853826515863487 6 Q9H845,P23786,O43772 3 |
| Increased blood pressure 0.2868033715385767 0.3743651421917797 0.7081326730498279 1.0 0.9853826515863487 75 Q8TAA9,O43826,P03886,Q9NSD9,P21964,P42892,Q9Y4P3,P16435,Q10713,P04062,O75844 11 |
| Recurrent bronchitis 0.4545130326554046 0.3739767771767253 0.7084215937759042 1.0 0.9853826515863487 5 Q03518 1 |
| Telecanthus 0.3088086848787191 0.3710590578108039 0.7105935447162133 1.0 0.9857757856705854 38 P21281,Q86XL3,P21964,Q8NCH0,P51812,O75844 6 |
| Large beaked nose 0.4347384367234546 0.3706366241606871 0.7109081997706999 1.0 0.9857757856705854 6 Q12797 1 |
| Retinal detachment 0.3772266656989929 0.36991642729164 0.7114447611056791 1.0 0.9857757856705854 12 Q8NAT1,O43505,Q8NCH0 3 |
| Thick corpus callosum 0.4863837872070885 0.3693179933002787 0.7118907153797196 1.0 0.9857946134623508 4 Q7LBC6,O00459,Q15233 3 |
| Anterior rib cupping 0.4853090239417518 0.365693401595453 0.7145938703649222 1.0 0.9864679321418348 4 O95831 1 |
| Gray matter heterotopia 0.3119183908013185 0.3633547439416796 0.7163399038972642 1.0 0.9880550398582956 29 Q6NUK1,Q86XL3,P23258,Q6ZXV5,Q96PU5,O43505,Q9BSJ2 7 |
| Meningocele 0.3644551623663473 0.3625712447907951 0.7169251939468151 1.0 0.9880847767470308 13 P21964,Q8TAA9 2 |
| Premature birth 0.3055380404014601 0.3604714020764326 0.7184946390163722 1.0 0.9880847767470308 41 P40855,O75381,O43676,Q9Y5Y5,P04062,O75844 6 |
| Abnormality of prenatal development or birth 0.3146304535026559 0.3581978123081038 0.7201952843005399 1.0 0.9880847767470308 225 P21281,P50542,O60313,Q9Y4P3,O43676,O95202,Q9BT22,Q7LGA3,O43175,O75844,P10619,P40855,Q6NUK1,Q7KZN9,Q86Y39,Q9Y619,Q969X5,Q96CU9,Q9NPL8,P23786,P08236,Q16637,P16435,Q8TAA9,Q86SQ9,O75381,P03886,Q70HW3,Q9NSD9,P21964,Q13510,P50416,Q9Y5Y5,P0DP25,P04062,Q9Y6M9,Q12768,O75306,Q9UHX1,O15118,Q9NVI7,O43909 42 |
| Myoclonic spasms 0.4135393773095726 0.3568217413038644 0.7212252590618746 1.0 0.9880847767470308 7 P00846 1 |
| Multiple rows of eyelashes 0.5888409530479283 0.3562039456676334 0.7216878372725168 1.0 0.9880847767470308 3 Q9Y606 1 |
| Sound sensitivity 0.3823058281450363 0.3553418569861462 0.7223335014927814 1.0 0.9880847767470308 8 P17900 1 |
| Hyperacusis 0.3823058281450363 0.3553418569861462 0.7223335014927814 1.0 0.9880847767470308 8 P17900 1 |
| Lipoatrophy 0.3386227121977663 0.3550576180077823 0.7225464266171426 1.0 0.9880847767470308 18 Q6NUK1,P42167,O75431,O75792,P04066 5 |
| Purpura 0.3135084248627627 0.3546095039298046 0.7228821552020075 1.0 0.9880847767470308 26 P04062,P21964,Q8NCH0 3 |
| Abnormality of the lymphatic system 0.2747756477194686 0.35304221104206 0.7240567955863471 1.0 0.989124921472062 147 P21281,P50542,P54802,O95202,O75792,Q9BT22,Q9UER7,Q96DX4,Q96A33,P10619,Q14739,Q15392,P08236,Q9NZ08,Q14108,O14617,P21964,P07602,Q13510,Q9NZJ7,Q5HYI8,Q10713,P04062,P35670,O15118,P04066 26 |
| Corticospinal tract hypoplasia 0.5984177215189853 0.350848959658032 0.7257016645394763 1.0 0.99018539506284 2 Q13045 1 |
| Cervical spinal canal stenosis 0.5863518881189786 0.349033023240778 0.7270645177418664 1.0 0.9909327666674568 3 O43909 1 |
| Impaired visuospatial constructive cognition 0.3803050607565564 0.3462033993268594 0.729189860216366 1.0 0.9926711737583762 8 Q10713,P03886 2 |
| Protuberant abdomen 0.4285006072969803 0.3461034017199195 0.7292650070374036 1.0 0.9926711737583762 6 O43826,P04062 2 |
| Premature skin wrinkling 0.3369810791689313 0.3445639131797104 0.7304222392581101 1.0 0.9939496899483682 18 Q6NUK1,O75844 2 |
| Knee flexion contracture 0.3111288341817169 0.3421131110352184 0.7322657709625919 1.0 0.9952655648188418 27 Q96AY3,Q86XL3,P21912,Q969X5,Q8TD16,P23786,Q7LGA3,O75340 8 |
| Dental crowding 0.3116552613696429 0.3405865842937159 0.7334148304302541 1.0 0.9953486984410592 26 O75431,Q96A33,P51812,O75844 4 |
| Cholangitis 0.5933544303797448 0.3364286752048665 0.7365476287183219 1.0 0.9981150629882758 2 Q9Y276 1 |
| Abnormality of thalamus morphology 0.3356053817847102 0.3358051932535928 0.737017773716325 1.0 0.9984554510238984 18 P11166,Q9UPT5,O75306,Q15526,Q9Y5P6 5 |
| Abnormality of vitamin d metabolism 0.3901892484754256 0.3322148213138358 0.7397270529367759 1.0 1.0 10 Q9NSD9 1 |
| Muscle fiber atrophy 0.3238518062451188 0.3318917378564642 0.7399710093622072 1.0 1.0 21 Q7Z392,P35637,P23786,P50402,Q99720 5 |
| Limb tremor 0.4420381047347829 0.3288022995565864 0.7423051248449064 1.0 1.0 5 Q9NR77 1 |
| Delayed closure of the anterior fontanelle 0.368724358264799 0.3260013602098311 0.7444233260033082 1.0 1.0 12 P40855,P51812 2 |
| Abnormality of the knee 0.2813591081325057 0.3254029799537337 0.7448761004602034 1.0 1.0 89 Q96AY3,Q86XL3,P21964,Q9NR77,Q7RTS9,Q9Y619,Q13510,Q9Y4P3,Q6ZXV5,O95831,P23786,P08236,Q15041,Q7LGA3,Q96PU5,Q96DX4,O75340 17 |
| Chondrocalcinosis 0.4730632571322754 0.3252901084358052 0.7449615164760428 1.0 1.0 4 P53680,P35670 2 |
| Cystoid macular edema 0.4407323563153015 0.3241782088503216 0.7458031188260499 1.0 1.0 5 Q96HR9 1 |
| Focal onset seizure 0.2823184787364851 0.3225702116497937 0.7470207563684303 1.0 1.0 82 P21281,P03886,O75503,O14617,P11166,Q9UPT5,P07602,Q9UBB4,Q9UBX3,Q6ZXV5,Q9NZJ7,Q96PU5,Q9NP80,O43175,Q96N66,O43909 16 |
| Abnormality of prothrombin 0.3771932710679951 0.3167685277041508 0.7514192465703253 1.0 1.0 11 P38435,P49257,Q5XKP0 3 |
| Pseudoepiphyses of hand bones 0.4700256504809645 0.3155323386925273 0.7523575014043677 1.0 1.0 4 P51812 1 |
| Pseudoepiphyses of the metacarpals 0.4700256504809645 0.3155323386925273 0.7523575014043677 1.0 1.0 4 P51812 1 |
| Pseudoepiphyses 0.4700256504809645 0.3155323386925273 0.7523575014043677 1.0 1.0 4 P51812 1 |
| Multifocal epileptiform discharges 0.3080727310523516 0.3136899503443343 0.753756534257974 1.0 1.0 26 Q9UBX3,Q96N66 2 |
| Cystic liver disease 0.4367927129712322 0.3103520919631982 0.756293221685771 1.0 1.0 5 O43909 1 |
| Acanthocytosis 0.4361735825150503 0.3081966575225599 0.7579326956759247 1.0 1.0 5 O75845,P27708,Q9Y6B6,Q05682 4 |
| Decreased specific anti polysaccharide antibody level 0.5710137008813543 0.3062198073520696 0.7594372922510508 1.0 1.0 3 Q9H0U3 1 |
| Cranial asymmetry 0.4173168165353316 0.303247653880595 0.7617011351224101 1.0 1.0 6 P40855 1 |
| Abnormality of facial musculature 0.2808084217165719 0.3010540812716195 0.7633732553771 1.0 1.0 76 P40855,Q9Y263,P50542,O75381,O60313,Q13510,Q9BQT8,P56589,P51812,Q15526,Q9UHX1,Q9Y5Y5,P07196,Q86VD7,O75340,P04062,Q15043 17 |
| Pulmonary carcinoid tumor 0.5690129772092536 0.3008154339301491 0.7635552386334108 1.0 1.0 3 Q9UER7 1 |
| Carcinoid tumor 0.5690129772092536 0.3008154339301491 0.7635552386334108 1.0 1.0 3 Q9UER7 1 |
| Brachycephaly 0.2785475696187275 0.3003978643724594 0.7638736924933127 1.0 1.0 62 P21281,Q6NUK1,Q96AY3,Q12768,P54886,Q05086,P10644,Q8NCH0,P16435,Q96A33,P04066,P04062 12 |
| Biparietal narrowing 0.3999254608709565 0.2997952078203977 0.7643333709037077 1.0 1.0 7 O43924 1 |
| Decreased circulating progesterone 0.4646663344343082 0.2985845532754002 0.7652570527942415 1.0 1.0 4 P16435 1 |
| Abnormal circulating progesterone level 0.4646663344343082 0.2985845532754002 0.7652570527942415 1.0 1.0 4 P16435 1 |
| Gastrointestinal inflammation 0.3255200166639044 0.29729312925971 0.7662427267084748 1.0 1.0 19 P49748,O43826,P08183 3 |
| Patent ductus arteriosus 0.2795034616826318 0.2958519731734977 0.7673431297988709 1.0 1.0 87 P40855,P21964,P42892,Q96DX4,Q6ZXV5,Q15392,Q9UHX1,Q96PU5,P0DP25,Q9NWM8,O75844 11 |
| Abnormality of the elbow 0.2767325880492324 0.2948538087447868 0.768105559237984 1.0 1.0 58 P50542,Q96AY3,Q9H6K4,Q7RTS9,Q9Y619,Q969X5,P54886,Q13510,P23786,Q7LGA3,P16435,Q96DX4,O43909 13 |
| Renal agenesis 0.2800904422157727 0.2935640107897935 0.7690910798126853 1.0 1.0 54 Q86XL3,P54886,O75306,O43924,Q15392,Q15526,Q9UHX1,Q7LGA3,P16435,O43175,Q8TAA9 11 |
| Keratitis 0.3812750269879963 0.2913693716664185 0.770768836684036 1.0 1.0 10 Q9NZ08 1 |
| Schistocytosis 0.4620012666244421 0.2902871404081124 0.7715965759712236 1.0 1.0 4 O75845,P27708,P41440 3 |
| Abnormal astrocyte morphology 0.3345296348982873 0.2889509356600717 0.7726189243401602 1.0 1.0 16 P00846 1 |
| Hypoglycemic seizures 0.3962921267660251 0.2849697412312059 0.7756673241652523 1.0 1.0 7 Q16836,P53985,Q13423,O43826 4 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.3004702331620772 0.2823537349689671 0.7776722863933703 1.0 1.0 30 Q6NUK1,P38435,P51812,P16435,O75844 5 |
| Elbow flexion contracture 0.3031135690521664 0.2815302456471664 0.7783037331092009 1.0 1.0 27 Q96AY3,P54886,P23786,Q7LGA3,P16435,O43909 6 |
| T lymphocytopenia 0.3722966434548632 0.280722013353217 0.778923623195189 1.0 1.0 9 O43909,P00813 2 |
| Adrenocorticotropic hormone deficiency 0.5721518987341749 0.2794031294574197 0.7799354697200189 1.0 1.0 2 P04637 1 |
| Multiple joint contractures 0.3224130114936878 0.2774198113853948 0.7814577711049013 1.0 1.0 19 O75792,Q96L58,O75844,Q9Y5P6,Q15043 5 |
| Abnormal adipose tissue morphology 0.2785670331556721 0.2773727605950876 0.7814938952673227 1.0 1.0 54 Q99643,P53680,P21912,P38606,O75792,P42166,O43175,O75844,Q6NUK1,P42167,O95140,P52732,Q8TAA9,P08069,P15924,P50402,P02545,Q15437,O75431,P04066 20 |
| Pulmonary hypoplasia 0.3036203175980513 0.2772379336726961 0.7815974138788877 1.0 1.0 25 Q6NUK1,O43175,Q8TAA9,O75844 4 |
| Long ear 0.5712025316455674 0.2769810595688544 0.7817946496665673 1.0 1.0 2 Q7LBC6 1 |
| Orofacial dyskinesia 0.3942752975558379 0.2768165969382893 0.7819209364702955 1.0 1.0 7 Q9BPX6,O75569,P09471 3 |
| Periventricular heterotopia 0.3588551417105395 0.2763021737032937 0.7823159865067282 1.0 1.0 12 Q6ZXV5,Q96PU5 2 |
| Abnormality of carpal bone ossification 0.425364204696892 0.2713556421937536 0.7861175149003192 1.0 1.0 5 Q96L58,O43909 2 |
| Reduced subcutaneous adipose tissue 0.3700247194018742 0.270724763601973 0.7866027292125244 1.0 1.0 9 O75844 1 |
| Abnormality of the parathyroid gland 0.3109000918244623 0.2693632220812088 0.7876501850643698 1.0 1.0 22 P00403,Q8WYQ5,P03886,P21964,P35670,P53680,Q08J23,P10644,P54198 9 |
| Motor regression 0.5677215189873395 0.2681992594034617 0.7885459450297305 1.0 1.0 2 P11766 1 |
| Abnormality of subcutaneous fat tissue 0.3398523241914249 0.2655206778532714 0.7906083827248807 1.0 1.0 14 Q6NUK1,P38606,O75431,O43175,O75844 5 |
| Abnormal dermoepidermal junction morphology 0.5554513018897491 0.2653305180534143 0.7907548567401403 1.0 1.0 3 P15924 1 |
| Lower limb hypertonia 0.3660426774223703 0.2638034226053244 0.7919313971161099 1.0 1.0 11 P21912,P54886,Q14739 3 |
| Abnormal foramen magnum morphology 0.4530503348977505 0.2630747131950022 0.7924929936012057 1.0 1.0 4 Q96DX4 1 |
| Absent septum pellucidum 0.2969898759613065 0.262801553368535 0.7927035381959724 1.0 1.0 32 P53701,O95202,Q15392,Q13409,P51571,O43505,O43175,Q96N66 8 |
| Scarring 0.2978396230355415 0.261966945703892 0.7933469259779546 1.0 1.0 30 Q9NWM8,Q96HR9,Q8NCH0,Q92542 4 |
| Renal dysplasia 0.3386350961657997 0.2589318479135614 0.7956878248530761 1.0 1.0 14 Q15526,O75306 2 |
| Abnormal oral mucosa morphology 0.2732720575014147 0.2566170155801434 0.7974744382464651 1.0 1.0 58 P21281,Q14108,O43826,O43909,Q14739,Q9Y4P3,Q15392,P08236,Q9NZ08,P04062 10 |
| Oval face 0.3890712500605968 0.2560394721894928 0.7979203584967285 1.0 1.0 7 Q9UHX1,O14936 2 |
| Frontotemporal dementia 0.372913410484311 0.2540543341929461 0.7994535821224387 1.0 1.0 10 P35637,Q9UQN3,P05067,P55072,O96008 5 |
| Colitis 0.3728799323024607 0.2539070030041637 0.799567404437658 1.0 1.0 10 O43826 1 |
| Sideroblastic anemia 0.3718171387456642 0.2492387258014431 0.8031761255245433 1.0 1.0 10 O76024 1 |
| Scleroderma 0.4183787907573713 0.2483782185699807 0.8038417847125912 1.0 1.0 5 Q14739 1 |
| Abnormality of exocrine pancreas physiology 0.3214700231368003 0.2478544144706903 0.8042470514825286 1.0 1.0 18 P09601,Q5HYI8 2 |
| Skin rash 0.3245044587066322 0.2466072879757102 0.8052121637361664 1.0 1.0 17 Q99643,P21912,Q14739,P14174,Q06136,Q9H4L7 6 |
| Adrenal insufficiency 0.2957560706321719 0.2459576577208224 0.8057150099900166 1.0 1.0 30 Q7Z392,P40855,P50542,O75381,O95470,P56589,Q13423,Q9Y5Y5,P16435 9 |
| Abnormality of coordination 0.3423557320398257 0.2451039000239138 0.8063759832356139 1.0 1.0 316 Q9NW15,P50542,P21912,P35637,O60313,Q6P4A7,Q9Y4P3,O43676,O43924,O95202,Q92643,P07196,Q9NP80,Q99720,P00846,O75340,P40855,P00374,O76024,Q7KZN9,Q9P0J0,Q9H6K4,O75503,Q86Y39,Q9NQZ5,O43292,O14949,Q9Y619,P54886,Q96CU9,Q7RTS9,O95470,Q8NI60,Q9NPL8,Q15526,P50897,Q5XKP0,Q86VD7,Q9NZ08,Q9BPX6,Q5THJ4,Q86SQ9,Q14108,P03886,O75381,Q9NR77,P07602,Q13510,Q9UBB4,O95831,Q9NZJ7,Q8WWV3,Q9Y5Y5,Q10713,Q6DKK2,Q8IV08,P04062,Q9Y287,P11166,Q9Y6M9,P35670,Q5JRX3,O00165,Q12768,Q15437,O75306,Q05086,O43681,P56589,O15118,O14773,Q9NVI7,Q13153,Q9Y375 74 |
| Tachycardia 0.2993678652049273 0.2447492950051691 0.8066505566492523 1.0 1.0 24 P23786,P0DP25,P42892,P49748 4 |
| Mask like facies 0.3619030784389427 0.2446200423459451 0.8067506439127663 1.0 1.0 11 Q05086,P04062,P38606 3 |
| Abnormality of lower limb metaphyses 0.4169465694374159 0.2437512083470121 0.807423510712292 1.0 1.0 5 O95831 1 |
| Impaired temperature sensation 0.3858130409639654 0.243228520566287 0.8078283739347834 1.0 1.0 7 Q9NR77,O15269 2 |
| Type ii transferrin isoform profile 0.4461733308857961 0.2428775566652155 0.8081002522579643 1.0 1.0 4 O75787,Q9H9E3 2 |
| Abnormal endocrine physiology 0.4162434599618452 0.2414903768452885 0.8091750739872441 1.0 1.0 5 P16435 1 |
| Abnormality of the antitragus 0.5456243311101856 0.2409108781630048 0.8096241908609763 1.0 1.0 3 Q92643 1 |
| Flattened epiphysis 0.5453437896470574 0.2402301647380885 0.8101518301807276 1.0 1.0 3 O95831 1 |
| Aqueductal stenosis 0.445218492716908 0.240123530392929 0.810234493158678 1.0 1.0 4 Q8WUM0,P57740,Q15427 3 |
| Impaired antigen specific response 0.3557387444514901 0.238717317265573 0.8113247876835994 1.0 1.0 8 P50851,Q96MG7,P00813,Q05655,P49327,O95394,Q9H0U3 7 |
| Micropenis 0.272012833762235 0.2386141625415326 0.811404782194252 1.0 1.0 59 Q86SQ9,Q6NUK1,Q07864,O14936,Q8IY17,Q9Y5P6,P42892,Q9Y619,P53701,O95470,P48449,O75792,Q9NVI7,P16435,Q10713,O43505,P46977 17 |
| Acute coronary syndrome 0.3161324594452204 0.2378802694489383 0.811973959005287 1.0 1.0 19 Q9NZ08,O75844 2 |
| Hallux valgus 0.3227133047393913 0.2360660397613872 0.8133814255943577 1.0 1.0 17 P21281,P04062 2 |
| Hepatocellular adenoma 0.4429438358341346 0.2336129677301149 0.8152854594996259 1.0 1.0 4 O43826 1 |
| Diffuse mesangial sclerosis 0.3190536618004871 0.2332311192495563 0.8155819424158322 1.0 1.0 18 O95470,Q8N1F7,P00813 3 |
| Bradykinesia 0.2961705261658802 0.2303731132388725 0.8178018518449721 1.0 1.0 27 Q86SQ9,O75787,Q13057,Q15043,O75569,Q6DKK2,P31930,P04062 8 |
| Soft skin 0.3605784817122697 0.2300244783062637 0.8180727487261272 1.0 1.0 9 Q9NWM8,Q13126 2 |
| Abnormality of tibia morphology 0.3672528583493387 0.2293899212530777 0.8185658690131068 1.0 1.0 10 O95831,P16435 2 |
| Abnormal liver morphology 0.3118992417292152 0.2285371083373426 0.8192287110266285 1.0 1.0 237 P21281,P50542,P54802,O43676,O75792,Q9BT22,Q8N511,Q9UER7,Q96A33,P00846,O75340,P10619,P40855,P00374,Q7KZN9,O43826,Q86Y39,Q9Y619,Q96CU9,Q9NPL8,P23786,P08236,Q15526,Q5XKP0,Q9HC07,P49748,Q86SQ9,Q14108,P03886,O14617,Q9NSD9,O75381,P07602,Q13510,Q9NZJ7,P50416,Q5HYI8,Q9Y5Y5,Q10713,P04062,P09601,Q9Y6M9,P35670,O75306,O15118,Q9NVI7,P04066,O43909 48 |
| Focal tonic seizure 0.5506329113924028 0.2273940622090255 0.8201173370375945 1.0 1.0 2 Q9H936 1 |
| Abnormal enzyme coenzyme activity 0.2868844810732049 0.2268303147756656 0.8205556902470685 1.0 1.0 184 O75792,Q8N511,Q9UER7,Q96A33,P00846,O75340,P10619,P40855,Q14566,O43826,Q9Y619,P23786,Q5XKP0,Q9HC07,P49748,Q86SQ9,P22695,P03886,Q9NSD9,P07602,Q13510,Q9NZJ7,P50416,Q5HYI8,Q9Y5Y5,Q10713,O43505,P04062,Q96AY3,P35670,Q5JRX3,O15118 32 |
| Inverted nipples 0.3957541191381399 0.2252104526804911 0.821815558249958 1.0 1.0 6 P61978,O60762,P56589,Q15067,P83436 5 |
| Neoplasm of the breast 0.2958556752901929 0.2243397681872536 0.822492934153904 1.0 1.0 26 P35232,P21912,Q15437,P10644,Q5HYI8,P11802 6 |
| Tachypnea 0.3138736437581056 0.2238800653365455 0.8228506275970944 1.0 1.0 19 P22695,Q9NSD9,Q9Y619,O43924,P49748 5 |
| Tapered finger 0.2921402948463621 0.2237926512283549 0.8229186484269713 1.0 1.0 36 P23786,P42892,Q06136,Q8NCH0 4 |
| Tinnitus 0.324811712202246 0.2205313623929579 0.8254573498841089 1.0 1.0 15 Q9NR77,P21912,O95831,Q9NR28,Q15043 5 |
| Moderate sensorineural hearing impairment 0.35801584964314 0.2192357978761538 0.8264663710385198 1.0 1.0 9 Q9NP80 1 |
| Hyperaldosteronism 0.5468354430379724 0.2188568890747723 0.826761529844807 1.0 1.0 2 P04637 1 |
| Spinal deformities 0.4371839689246597 0.2174477513828124 0.8278594211035912 1.0 1.0 4 Q9Y5P6 1 |
| Abnormal dentin morphology 0.4084521835017615 0.2169176820547954 0.8282724973845443 1.0 1.0 5 Q96AY3 1 |
| Increased circulating iga level 0.4082990180551188 0.2164435933698236 0.8286419889053382 1.0 1.0 5 Q05655,O95394,P49327,Q96BN8 4 |
| Preaxial hand polydactyly 0.3568840569832988 0.2145067786972009 0.8301518813547404 1.0 1.0 9 Q9UHX1,O43909 2 |
| Paralysis 0.2760445373437267 0.2130313657591723 0.8313024978266488 1.0 1.0 52 Q15165,P11166,Q9NR77,O95140,P21912,P10253,P35637,P54886,P17900,Q92804,P04062 11 |
| Flared iliac wing 0.4063993996823015 0.2105930645839813 0.8332048246116965 1.0 1.0 5 O95831,Q96L58 2 |
| Aplasia hypoplasia of the clavicles 0.3450282560037604 0.2093232384680886 0.8341959119122995 1.0 1.0 12 O75844 1 |
| Abdominal pain 0.2728925118051737 0.2060568722425025 0.8367464867580112 1.0 1.0 83 Q14566,Q14108,Q8N1F7,Q70HW3,P42892,P35637,Q9Y4P3,P23786,Q5HYI8,Q9NZ08,Q9UER7,P04062 12 |
| Aplasia hypoplasia involving the metacarpal bones 0.2926222278967261 0.2013835494098871 0.8403986773836332 1.0 1.0 26 Q7RTS9,Q96S52,Q14739,P10644,Q96L58,Q9H9E3,P16435,Q96DX4,P51812,O43909 10 |
| Slender build 0.3520544344694341 0.2001280578147974 0.8413804302588173 1.0 1.0 11 Q9NSD9 1 |
| Hypoplastic fingernail 0.3189451812544785 0.19960657444643 0.8417882855962713 1.0 1.0 16 P21281,Q12768,P51812,Q14739 4 |
| Abnormal lung lobation 0.3270375364896393 0.19758049604815 0.8433732958683378 1.0 1.0 14 Q9UHX1,P21964 2 |
| Ovarian cyst 0.3130610154236081 0.1975463192405144 0.8434000379996096 1.0 1.0 18 O43826,Q15437,Q9Y4P3,P10644,P16435 5 |
| Achilles tendon contracture 0.350995055387314 0.1954438045642063 0.8450455266777004 1.0 1.0 11 Q08J23,O60313,Q8TD16,P50402,P02545 5 |
| Hyperhomocystinemia 0.4281190626978869 0.1929623724773523 0.8469884366376088 1.0 1.0 4 O14678,Q99707,P41440 3 |
| Decreased circulating level of specific antibody 0.3861130313889812 0.1925035126915345 0.8473478166400177 1.0 1.0 6 Q9H0U3,P00813 2 |
| Abnormal spermatogenesis 0.3503138227200746 0.1924424434304105 0.8473956486161165 1.0 1.0 11 P16435,P04062 2 |
| Hypoplastic heart 0.5242580253401872 0.1917616273737729 0.8479289299920496 1.0 1.0 3 Q12768 1 |
| Abnormal delayed hypersensitivity skin test 0.5319620253164533 0.1873191403443997 0.8514104167693175 1.0 1.0 2 P49327 1 |
| Reduced delayed hypersensitivity 0.5319620253164533 0.1873191403443997 0.8514104167693175 1.0 1.0 2 P49327 1 |
| Osteomyelitis 0.3245513857085091 0.1847876136940524 0.8533956233902806 1.0 1.0 14 P48643,Q13126 2 |
| Hepatosplenomegaly 0.2865217319729555 0.1845820386861334 0.8535568749087539 1.0 1.0 39 P10619,Q13510,Q14739,O75792,Q5HYI8,P04062 6 |
| Delayed ability to stand 0.5207800520626759 0.184289218113748 0.8537865717674431 1.0 1.0 3 P21912 1 |
| Abnormal metabolism 0.2775770615089794 0.1830522451723367 0.8547570253903947 1.0 1.0 49 P27708,O43826,Q9NSD9,P38606,O14678,Q9BT22,Q8N511,Q9H9E3,P51571,O75787,P46977,O75340,Q9H0U3 13 |
| Aplasia hypoplasia of the phalanges of the hand 0.2744396959193643 0.1809699776038777 0.8563911412956833 1.0 1.0 51 P21281,Q6NUK1,O43909,Q7RTS9,Q14739,P38435,Q9UHX1,P51812,P16435,O75844 10 |
| Abnormal gastrointestinal motility 0.2879752717754591 0.1809370683232443 0.8564169727074755 1.0 1.0 29 Q7Z392,O76024,P03886,P35637,Q5HYI8,P11802 6 |
| Retrognathia 0.2706292182270767 0.1777858722592139 0.8588911428950068 1.0 1.0 78 Q6NUK1,O14617,Q12797,Q9UPT5,Q9Y619,P53701,Q15392,Q9UHX1,Q7LGA3,Q8NCH0,O43175,O75844,P04062 13 |
| Abnormal macroscopic urine appearance 0.3061934702265682 0.177225207632211 0.8593314962306686 1.0 1.0 19 P23786 1 |
| Dermal translucency 0.3476511503205801 0.1767819849003885 0.8596796401401243 1.0 1.0 9 O75844 1 |
| Pancreatic islet cell hyperplasia 0.5167649048218256 0.1758505099412017 0.860411386689665 1.0 1.0 3 Q14739 1 |
| Abnormal vitamin b12 level 0.3676703645007838 0.1748978240971204 0.8611599200416804 1.0 1.0 7 Q99707,Q05655,O14678,P49327,P41440,Q96EY8 6 |
| Increased hepatocellular lipid droplets 0.5154157621927409 0.1730604110054812 0.8626039427960066 1.0 1.0 3 Q15526 1 |
| Sporadic 0.2925891992664647 0.1719447415692631 0.8634809716762752 1.0 1.0 23 Q05086,P54886,O95202,P51812,P04062 5 |
| Short palpebral fissure 0.2867002208424412 0.1716991863069314 0.8636740255472777 1.0 1.0 29 Q9UHX1,Q9Y619,O75844 3 |
| Abnormal blistering of the skin 0.3018149640542238 0.1678278792164254 0.8667186891259608 1.0 1.0 20 Q06136 1 |
| Depression 0.2646327270858292 0.1634762906530369 0.870143439339816 1.0 1.0 103 Q15165,O76024,P03886,P21964,P35670,P11166,P07602,P35637,Q9Y4P3,Q9UBB4,Q9NZJ7,P10644,P50897,P51812,Q6DKK2,P31930,Q96N66,P04062 18 |
| Abnormality of endocrine pancreas physiology 0.390243902439029 0.163100170010959 0.8704395659402495 1.0 1.0 5 P40763,P53985,O00330,Q14739 4 |
| Thoracic hypoplasia 0.2867144911569468 0.1629971609315939 0.8705206700266301 1.0 1.0 27 P16435,Q9UHX1,Q96A33,P04062 4 |
| Abnormality of the anus 0.2766577312401135 0.1622935635682644 0.8710746830175575 1.0 1.0 48 Q6NUK1,P21964,Q12768,P53701,P16435,P49748,P16615,Q8TAA9 8 |
| Suicidal ideation 0.5096549540993915 0.1614053082613175 0.871774186102902 1.0 1.0 3 Q14203,P42858 2 |
| Lymphocytosis 0.5093383982272804 0.1607770479526904 0.8722690031202345 1.0 1.0 3 P49327,Q03252 2 |
| Posterior pharyngeal cleft 0.5093383982272802 0.1607770479526895 0.8722690031202351 1.0 1.0 3 O15344,P29372 2 |
| Vascular neoplasm 0.2840524192997421 0.1600930995424214 0.8728077368349831 1.0 1.0 37 P21281,P10619,Q12768,Q15437,O95202,Q9UHX1,Q7LGA3,P16435,O43909 9 |
| Diminished motivation 0.2867926322961847 0.159158341023623 0.8735441244668776 1.0 1.0 25 P17900,P35637,P04062 3 |
| Short femur 0.3884056735342059 0.1579613634850186 0.8744872438901043 1.0 1.0 5 Q9UHX1 1 |
| Weight loss 0.2679954634338208 0.1563343408158438 0.8757694890560654 1.0 1.0 71 P35670,P42892,P35637,P07602,Q9NZJ7,Q5HYI8,Q9NZ08,Q9UER7,Q99720,Q06136,P04062,O75844 12 |
| Hyperkinetic movements 0.3417405934568139 0.1554213209774489 0.876489176688148 1.0 1.0 11 P07602 1 |
| Facial erythema 0.5049066160177207 0.1521152771020633 0.8790960150425164 1.0 1.0 3 O00170,P40818 2 |
| Pulmonary fibrosis 0.2960606853496556 0.1510756509288861 0.8799160397653911 1.0 1.0 21 P04062 1 |
| Polyphagia 0.3335460700910575 0.150472985248884 0.8803914627017411 1.0 1.0 8 P42858,Q4J6C6,Q05086 3 |
| Macular thickening 0.33315136764729 0.1489908444421011 0.8815608574062894 1.0 1.0 8 Q96HR9 1 |
| Narrow palate 0.2806480011065669 0.1483439172736715 0.8820713577726662 1.0 1.0 42 P21281,Q6NUK1,Q12768,Q9Y619,P23786,P51812,P16435 7 |
| Aplasia hypoplasia of the 5th finger 0.3171629757099639 0.1475854366615024 0.8826699490890695 1.0 1.0 14 Q9UHX1,P13073 2 |
| Laryngeal cleft 0.5094936708860733 0.1454898875813476 0.8843240993424439 1.0 1.0 2 Q69YQ0 1 |
| Abnormal cry 0.3166744170774033 0.1451702410057582 0.8845764612412195 1.0 1.0 14 Q13510,O75208 2 |
| Decreased serum complement c3 0.5091772151898709 0.1449508484004533 0.8847496791183826 1.0 1.0 2 Q03252 1 |
| Burkitt lymphoma 0.5091772151898708 0.144950848400453 0.8847496791183829 1.0 1.0 2 P49327 1 |
| Follicular hyperplasia 0.5091772151898708 0.144950848400453 0.8847496791183829 1.0 1.0 2 P49327 1 |
| Abnormal proportion of double negative alpha beta regulatory t cell 0.5091772151898708 0.144950848400453 0.8847496791183829 1.0 1.0 2 P49327 1 |
| Coombs positive hemolytic anemia 0.5091772151898708 0.144950848400453 0.8847496791183829 1.0 1.0 2 P49327 1 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 0.5091772151898708 0.144950848400453 0.8847496791183829 1.0 1.0 2 P49327 1 |
| Increased b cell count 0.5091772151898708 0.144950848400453 0.8847496791183829 1.0 1.0 2 P49327 1 |
| Iris coloboma 0.2821036270479337 0.1448444189095471 0.8848337107834963 1.0 1.0 34 Q7Z392,Q8NAT1,Q8IY17,Q12768,P53701,O95202,Q9UHX1,Q96EK5,Q10713,O43505,O75340 11 |
| Abnormal umbilicus morphology 0.2644751893408414 0.1445883537630564 0.8850358929527582 1.0 1.0 62 Q6NUK1,P21964,P54886,Q9Y4P3,P08236,Q8NCH0,Q9NWM8,O43175,O75844 9 |
| Interstitial pneumonitis 0.5088607594936684 0.14441319653123 0.8851741967157514 1.0 1.0 2 P51692 1 |
| Proximal muscle weakness in lower limbs 0.2978082079950435 0.1437379586809526 0.8857073957314661 1.0 1.0 20 P35670,O95140,Q16637,P07196,P50402 5 |
| Abnormal atrioventricular conduction 0.3216455886555364 0.1431175030341977 0.8861973818185025 1.0 1.0 13 P06280,O43772,P21912,P49748,P0DP25,P50402 6 |
| Anorexia 0.2832763461399473 0.1426365151516954 0.8865772574051429 1.0 1.0 28 Q14108,Q5HYI8,Q9NZ08,Q9UER7,P04062 5 |
| Pectus carinatum 0.281672930628721 0.1415831076956177 0.8874093106108407 1.0 1.0 34 Q9Y263,Q96AY3,P16278,Q7RTS9,Q9Y619,Q96S52,P55011,P08236,Q9NVI7,Q96L58,Q9H9E3,P55795,P51812 13 |
| Polycystic liver disease 0.4069031032298959 0.1404383014327408 0.8883136975360002 1.0 1.0 4 Q14697,Q9UGP8,P14314 3 |
| Increased circulating igm level 0.3578446909667232 0.1402017385681575 0.888500598295078 1.0 1.0 7 Q96MG7,Q9Y5L0,P49327,Q96AX1,O95394,Q96BN8 6 |
| Hydrops fetalis 0.2797777835125644 0.136361541440143 0.8915354751216529 1.0 1.0 41 P10619,P08236,Q13510,P04062 4 |
| Bilateral tonic clonic seizure 0.2668165807246805 0.1352658574473481 0.8924016787486035 1.0 1.0 87 Q86SQ9,P21281,P50542,P03886,O14617,P11166,Q9NQZ5,O43292,P07602,Q13510,Q14739,Q9NZJ7,P51812,O43175,P49748,P00846,P04062 17 |
| Hand tremor 0.3143603626157836 0.1338090889572092 0.8935535398857972 1.0 1.0 14 Q15120,Q92734,Q16637,P07196 4 |
| Fatty replacement of skeletal muscle 0.3791574279379204 0.1329622264813774 0.894223254093981 1.0 1.0 5 P22626,Q8NFF5,P55072,P51114 4 |
| Supernumerary bones of the axial skeleton 0.3789211201093102 0.1323424053353642 0.894713467723852 1.0 1.0 5 Q9UHX1 1 |
| Macroscopic hematuria 0.5012658227848077 0.1319246351505648 0.8950439028965322 1.0 1.0 2 P00492 1 |
| Uric acid nephrolithiasis 0.5012658227848077 0.1319246351505648 0.8950439028965322 1.0 1.0 2 P00492 1 |
| Oliguria 0.5012658227848075 0.1319246351505646 0.8950439028965325 1.0 1.0 2 O43772 1 |
| Decreased urine output 0.5012658227848075 0.1319246351505646 0.8950439028965325 1.0 1.0 2 O43772 1 |
| Sudden loss of visual acuity 0.5003164556962001 0.1304194121982986 0.8962346090446953 1.0 1.0 2 O00170 1 |
| Retinal fold 0.5003164556962 0.1304194121982983 0.8962346090446955 1.0 1.0 2 P52732 1 |
| Progressive external ophthalmoplegia 0.3428865144798648 0.1294790774165833 0.8969785793863267 1.0 1.0 10 P03886 1 |
| Increased muscle glycogen content 0.4922443811332627 0.1287512537251514 0.8975544782719125 1.0 1.0 3 O75648,Q9BUK6 2 |
| Single transverse palmar crease 0.2768778872193638 0.1283300197341433 0.8978878091984304 1.0 1.0 44 Q9Y263,P40855,P50542,O75381,O43909,O95202,Q9UHX1,Q9Y5Y5,P51812,Q9H4L7 10 |
| Stroke 0.2792920278676598 0.1277754355177006 0.8983266903089993 1.0 1.0 32 P03886,O75844 2 |
| Abnormal aldolase level 0.4915763594990748 0.1275757661370682 0.8984847102158846 1.0 1.0 3 O43505 1 |
| Abnormal heart valve physiology 0.2664519589420037 0.1271241072326819 0.8988421714407884 1.0 1.0 82 Q6NUK1,Q12768,O75306,P54886,P53701,Q6ZXV5,Q9Y4P3,Q9UHX1,Q15526,Q96PU5,P51812,Q9NZ08,Q9UER7,Q96DX4,O75844,P04062 16 |
| Abnormal esophagus physiology 0.2993638347759271 0.1266474643101797 0.8992194282915185 1.0 1.0 223 P21281,P35637,O60313,Q9Y4P3,O95202,Q99720,Q96A33,P00846,O43175,Q6NUK1,O76024,Q9Y619,P54886,Q14739,Q15526,P16435,P49748,Q9Y263,Q86SQ9,Q14108,P03886,P21964,Q9NSD9,Q9NR77,O15269,P07602,Q13510,Q9UBB4,Q9NZJ7,Q9Y5Y5,Q96PU5,P04062,P35670,Q12768,O75306,Q05086,Q6ZXV5,Q9UHX1,O15118,P51571,Q92734,Q13153 42 |
| Myoglobinuria 0.3417149963741409 0.1249565872644015 0.9005579192267028 1.0 1.0 10 P23786 1 |
| Metaphyseal striations 0.3644437397715946 0.1245362567201938 0.9008906951022486 1.0 1.0 6 Q13126,Q9UG56 2 |
| Abnormal sharpey fiber morphology 0.3758528746076524 0.1243815572890005 0.9010131750980834 1.0 1.0 5 P53680,P35670 2 |
| Hypoplastic labia majora 0.3173940708037263 0.1233311279121259 0.9018448924777416 1.0 1.0 13 Q6NUK1,Q9Y619 2 |
| Abnormal labia majora morphology 0.3173940708037263 0.1233311279121259 0.9018448924777416 1.0 1.0 13 Q6NUK1,Q9Y619 2 |
| Neonatal onset 0.2882020614017947 0.1222380673244864 0.9027104791308024 1.0 1.0 22 Q13277,P49748,Q8TB36,Q9H490,P11047,Q9H4L7 6 |
| Patellar dislocation 0.2911489359069705 0.1213154082268747 0.9034412161572316 1.0 1.0 21 Q6ZXV5,Q96PU5,P21964 3 |
| Spinal cord lesion 0.363254294129245 0.1210416773609308 0.9036580241004282 1.0 1.0 6 Q12768 1 |
| Polycystic kidney dysplasia 0.3042324899580809 0.1203462361019572 0.9042088791248704 1.0 1.0 16 P23786,P21964 2 |
| Generalized abnormality of skin 0.2998640205425514 0.1202631841206094 0.9042746672089224 1.0 1.0 225 P21281,P50542,Q9Y4P3,P38435,O75792,P07858,Q9UER7,P00846,O43175,O75844,P10619,P40855,P00374,Q6NUK1,O43826,P54886,Q14739,P10644,P51812,Q9NWM8,P51648,P49748,Q14108,P03886,P21964,O75381,P22830,O15269,Q13126,Q5HYI8,Q9Y5Y5,Q8NCH0,Q06136,P04062,Q9H4L7,P11166,P35670,Q15437,O75306,P53701,O75431,O15118,P04066 43 |
| Symphalangism of middle phalanx of finger 0.4930379746835418 0.1192885391683381 0.905046763084123 1.0 1.0 2 Q15233 1 |
| Abnormality of the proximal phalanx of the thumb 0.4930379746835418 0.1192885391683381 0.905046763084123 1.0 1.0 2 Q15233 1 |
| Thoracolumbar scoliosis 0.3514667843714379 0.1186226443953282 0.9055743243868544 1.0 1.0 7 Q96DX4 1 |
| Atrial flutter 0.4924050632911367 0.1183546712751283 0.9057866403465542 1.0 1.0 2 P02545 1 |
| Heart block 0.287512476756079 0.1180131239725161 0.9060572591251284 1.0 1.0 22 P46976,P06280,O43772,Q9H490,P38606,P23786,P50402,P14923,P0DP25,P49748 10 |
| Abnormal facial expression 0.2782177650666555 0.1174899549840586 0.9064718036757312 1.0 1.0 33 Q9Y263,Q9Y5P4,Q9NR77,Q969X5,Q05086,Q9Y5P6,P04062,Q15043 8 |
| Vertebral hypoplasia 0.3395583140623522 0.1167037340102449 0.9070948311866198 1.0 1.0 10 Q8TAA9,Q14739 2 |
| Microcornea 0.2794904749503745 0.1165125889758539 0.907246309489055 1.0 1.0 28 Q9NWM8 1 |
| Abnormality of skin pigmentation 0.2490252464370248 0.1138056427864931 0.9093918653623771 1.0 1.0 123 P21281,P21912,Q13423,Q7LGA3,O75844,Q14739,P10644,P51648,P03886,O14617,P21964,P07602,Q9NZJ7,Q06136,Q9H4L7,P04062,Q96AY3,Q15437,Q05086,P53701,O75431,P16615 22 |
| Hyperactive deep tendon reflexes 0.3311990175340118 0.11363133540142 0.9095300461689624 1.0 1.0 9 Q9NR77,P11166 2 |
| Abnormal clavicle morphology 0.2983049530035475 0.1136210519026335 0.909538198417166 1.0 1.0 18 Q96AY3,Q9Y619,O75844,Q14739 4 |
| Abnormality of upper limb epiphysis morphology 0.3045107730914624 0.1135428403482327 0.9096002009731028 1.0 1.0 15 O95202,Q7RTS9,P16435,P51812 4 |
| Abnormality of chromosome segregation 0.3947380825324872 0.1134735359986719 0.9096551427631074 1.0 1.0 4 Q14739 1 |
| Hypopigmented skin patches 0.2793389560223868 0.1106620446036621 0.9118843450786204 1.0 1.0 26 P21964,P07602,Q15437,P53701,Q9NZJ7 5 |
| Polydactyly 0.2696803047028118 0.1095572667880448 0.9127605027377096 1.0 1.0 49 Q9Y263,P21964,Q12768,Q14739,O95202,O43924,Q9UHX1,Q10713,O43909 9 |
| Infectious encephalitis 0.3376496175817003 0.1094795079775419 0.9128221743277384 1.0 1.0 10 Q9BUB7,Q9H9P8,Q9NZ08,Q14739 4 |
| Abnormal renal physiology 0.2685772975844851 0.1093132074173201 0.912954071367921 1.0 1.0 163 O43676,Q9BT22,P40855,O76024,O43826,Q86Y39,Q96CU9,O95470,P23786,Q15526,Q9NZ08,Q8TAA9,Q86SQ9,Q14108,P03886,P50416,Q8NCH0,Q10713,P05023,P04062,P09601,Q8N1F7,Q9Y6M9,O75306 24 |
| Squamous cell carcinoma of the skin 0.3916210317676026 0.106943605751374 0.9148337191466648 1.0 1.0 4 Q9H4L7 1 |
| Abnormality of adrenal physiology 0.277056042446699 0.1053168956454226 0.9161243567450772 1.0 1.0 36 Q7Z392,P40855,P50542,O75381,O95470,P56589,P10644,Q13423,Q9Y5Y5,P16435 10 |
| Inappropriate antidiuretic hormone secretion 0.4825949367088583 0.104567386379308 0.9167190946890642 1.0 1.0 2 Q13724 1 |
| Diaphragmatic weakness 0.3677415125313327 0.1041228649263513 0.9170718458929188 1.0 1.0 5 Q9NR77,P10253 2 |
| Ileus 0.3901203293223599 0.1038553679827543 0.9172841266908258 1.0 1.0 4 P08397,Q01844,P50336 3 |
| Rhabdomyolysis 0.3023223163997389 0.1026296607521448 0.9182569012556708 1.0 1.0 15 P23786,P49748 2 |
| Abnormal response to endocrine stimulation test 0.4759196729876802 0.1016655243291473 0.919022167913892 1.0 1.0 3 P16435 1 |
| Death in adolescence 0.4803797468354403 0.1016310482832098 0.9190495340741348 1.0 1.0 2 P15924 1 |
| Mildly elevated creatine kinase 0.2877521690942113 0.1011918238177177 0.919398187051398 1.0 1.0 21 Q969X5,Q13608,Q06210,O75648,Q92734,Q9BPX6,O75340 7 |
| Vertebral arch anomaly 0.4754247713297308 0.1008976703026671 0.919631692500726 1.0 1.0 3 P10644 1 |
| Narrow vertebral interpedicular distance 0.4754247713297308 0.1008976703026671 0.919631692500726 1.0 1.0 3 P10644 1 |
| Abnormal urine phosphate concentration 0.3559111042857332 0.1000388208418629 0.9203135054416274 1.0 1.0 6 Q15526 1 |
| Hyperphosphaturia 0.3559111042857332 0.1000388208418629 0.9203135054416274 1.0 1.0 6 Q15526 1 |
| Abnormality of complement system 0.3882203926535812 0.0999975028455691 0.9203463079498152 1.0 1.0 4 Q05655,P02545,Q03252 3 |
| Aplasia hypoplasia involving the sinuses 0.3659286101294453 0.0997530430662898 0.9205403882327992 1.0 1.0 5 P04066 1 |
| Ectopic kidney 0.3014976282848555 0.0985513275679584 0.9214945167788776 1.0 1.0 15 Q9UHX1,Q8TAA9 2 |
| Hypoplastic female external genitalia 0.2993106266461121 0.0951086935656025 0.9242284929142666 1.0 1.0 16 Q6NUK1,Q9Y619 2 |
| Facial hemangioma 0.3532209559362886 0.0925944794372582 0.9262257296778688 1.0 1.0 6 P16435 1 |
| Abnormality of adrenal morphology 0.2763016968804256 0.0905288534285846 0.9278669663631492 1.0 1.0 24 P21281,P21912,Q12768,P10644,P16435,O75844 6 |
| Abnormal glial cell morphology 0.2583518071577763 0.0884039122498477 0.9295556519470056 1.0 1.0 55 Q7KZN9,O75306,O95831,Q15526,Q10713,P00846,P04062 7 |
| Aplasia involving bones of the extremities 0.4680379746835417 0.0864357703815702 0.9311200126693784 1.0 1.0 2 P02545 1 |
| Aplasia of the phalanges of the hand 0.4680379746835417 0.0864357703815702 0.9311200126693784 1.0 1.0 2 P02545 1 |
| Childhood onset 0.2738812187971319 0.0819936864764313 0.9346517340139436 1.0 1.0 38 Q14566,P22830,Q9NR77,Q5JRX3,O00165,Q8WWV3,O95298 7 |
| Melanocytic nevus 0.3162247580703837 0.0819341300240871 0.934699093836682 1.0 1.0 12 Q96AY3,Q15437,P10644 3 |
| Anisopoikilocytosis 0.461855017410565 0.0810532094642803 0.9353996366327566 1.0 1.0 3 O75845,P27708 2 |
| Cystic hygroma 0.34883545166121 0.0807512945575798 0.9356397428189992 1.0 1.0 6 Q96S52,Q14739 2 |
| Abnormality of the nasal tip 0.2594897970449983 0.078082510239428 0.9377624195207352 1.0 1.0 100 P21281,P21964,O43909,O43292,P42892,O43924,O95831,P23786,Q9UHX1,Q02252,Q7LGA3,P10644,P51812,P16435,Q96A33,Q13409,O75844 17 |
| Restlessness 0.2728836675956254 0.0776740565461266 0.9380873316183658 1.0 1.0 40 Q15165,Q6PJG6,P35610,P42892,P35637,P48449,P10644,Q92804,O96008,P04062 10 |
| Moderate global developmental delay 0.3287239198434351 0.0767212040963257 0.9388453358265209 1.0 1.0 10 O95831,O43175 2 |
| Severe viral infection 0.3554006968641158 0.0755353974708842 0.939788734862122 1.0 1.0 5 Q7L590,P29144,O95394,Q9H0U3 4 |
| Bloodstream infectious agent 0.3554006968641156 0.0755353974708836 0.9397887348621226 1.0 1.0 5 Q05655,P29144,O95394,Q9H0U3 4 |
| Lymphoproliferative disorder 0.3554006968641153 0.075535397470883 0.939788734862123 1.0 1.0 5 Q05655,P33991,P50851,Q9H0U3 4 |
| Aplasia hypoplasia involving the nose 0.2738706159285102 0.0751932494508723 0.9400609553084154 1.0 1.0 26 P21281,O75431,P10644,P55795,O75844 5 |
| Secretory diarrhea 0.4572784810126554 0.0747494298827866 0.9404140782913926 1.0 1.0 2 Q13277 1 |
| Abnormal synaptic transmission at the neuromuscular junction 0.2737211351720765 0.0742405189473385 0.9408190053334392 1.0 1.0 26 Q15165,Q9Y5P6,P35637,Q92734,Q92804,P11047,O75340 7 |
| Arthropathy 0.3450570342205249 0.0708420443838753 0.9435234692845637 1.0 1.0 6 Q9Y3Z3,O15270,O15269,P40763,Q6DD88 5 |
| Abnormal meningeal morphology 0.2730471869018128 0.0696787871294132 0.94444932615517 1.0 1.0 25 Q9UHX1,P21964,Q8TAA9 3 |
| Sclerocornea 0.3266092473566094 0.0692148646252703 0.9448185912236656 1.0 1.0 10 Q6NUK1,P53701 2 |
| Multiple prenatal fractures 0.3437896070975816 0.0675797441290144 0.946120180373026 1.0 1.0 6 Q32P28,Q14739,Q14696,O75718,P06753 5 |
| Generalized muscle weakness 0.270657057852088 0.0661969191490595 0.9472210495594348 1.0 1.0 32 Q15165,P21912,P10253,P35637,O95831,Q92804,Q9H845,P11047,P42858 9 |
| Reduced systolic function 0.4499573532068345 0.0655451801326835 0.9477399351061592 1.0 1.0 3 P15924 1 |
| Elevated lactate pyruvate ratio 0.3695376820772659 0.065163019868892 0.9480442043930506 1.0 1.0 4 Q96RP9,P53597,O96000 3 |
| Non midline cleft lip 0.3496304510723252 0.0631092165635668 0.9496795351744104 1.0 1.0 5 O60716,Q96L58 2 |
| Abnormality of cardiovascular system electrophysiology 0.2500752901095483 0.0630383576634072 0.9497359600475184 1.0 1.0 117 P46976,P50542,P42892,Q9H490,Q9Y4P3,P00846,P40855,P23786,Q15526,P49748,P13473,O75381,P03886,P07602,Q9NZJ7,P50416,Q9Y5Y5,P0DP25,O75208,P04062,O75306,P53701 22 |
| Stage 5 chronic kidney disease 0.2706181612749145 0.0604242885200026 0.9518177145555484 1.0 1.0 29 O95470,P23786,O43826 3 |
| Poikiloderma 0.3666877770740925 0.0603437233451965 0.9518818791785212 1.0 1.0 4 P19447,Q9H1A4,O75431 3 |
| Exercise induced muscle fatigue 0.4455563401287165 0.0602461097870049 0.9519596220847082 1.0 1.0 3 Q7Z392 1 |
| Hypoplasia of the ear cartilage 0.4450775561886644 0.0596836438858243 0.9524075987985854 1.0 1.0 3 Q8WUM0,P57740 2 |
| Abnormal renal vascular morphology 0.4448048821532689 0.0593645343082693 0.952661760740803 1.0 1.0 3 P21912 1 |
| Abnormality of circulating glucocorticoid level 0.316991044158414 0.0571953686600853 0.9543895673968956 1.0 1.0 11 P16435,P10644 2 |
| Pelvic kidney 0.3148943027364814 0.0567617731257727 0.954734965444024 1.0 1.0 9 Q9UHX1 1 |
| Soft tissue sarcoma 0.2693279076604878 0.0557615875324216 0.955531736015804 1.0 1.0 30 P21281,Q13126,Q15437,Q15392,P10644,Q96DX4 6 |
| Genu valgum 0.2701792498947672 0.0555720888669308 0.9556826999904215 1.0 1.0 35 Q9NR77,Q7RTS9,Q9Y619,Q9Y4P3,P08236,Q7LGA3,Q96DX4 7 |
| Abnormality of hair texture 0.2646571877579375 0.0546606109596351 0.9564088503228942 1.0 1.0 48 Q6NUK1,P54802,Q9Y5P4,P04080,Q96A33,Q9NVI7,P51812,P55795,O43175,O75844 10 |
| Poor fine motor coordination 0.330903328050709 0.054482348039743 0.9565508719232734 1.0 1.0 7 O95140,Q8TC12,Q06787,O00330,P55072,P42858 6 |
| Amelogenesis imperfecta 0.440415153565703 0.0543486392586839 0.9566573982637429 1.0 1.0 3 Q9HC07 1 |
| Genu varum 0.3220743834797257 0.0534577330704235 0.9573672065906031 1.0 1.0 10 Q9NUQ7,Q7RTS9,Q9Y619 3 |
| Abnormal mitochondrial shape 0.4393795504906553 0.0531984133353215 0.9575738198020576 1.0 1.0 3 Q00325,P53597 2 |
| Abnormality of the musculature of the thigh 0.3049850575948057 0.0521099796007921 0.958441061199945 1.0 1.0 8 P50402,P07196 2 |
| Abnormal cartilage morphology 0.3086681667196222 0.0517019989805173 0.9587661444158606 1.0 1.0 12 Q9UHX1,Q7LGA3 2 |
| Heterotropia 0.2632091459807521 0.0515534750154722 0.9588844915666024 1.0 1.0 49 P50542,Q05086,O43924,Q9UHX1,Q9NVI7,P55795,O43175,O75340,P04062 9 |
| Missing ribs 0.2915672689523787 0.0509763053497204 0.9593444015860304 1.0 1.0 15 P21281,Q12768,Q8TAA9 3 |
| Bowel diverticulosis 0.3035782927922908 0.0477578293064996 0.9619092455195836 1.0 1.0 8 P54886 1 |
| Protruding ear 0.2686156706260343 0.0470694391414899 0.9624578843619996 1.0 1.0 41 P54886,Q9Y4P3,Q8NCH0,P51812,O43505,Q06136 6 |
| Increased circulating igg level 0.3575047498416724 0.0456973759904679 0.9635514552825712 1.0 1.0 4 Q05655,O95394,P49327 3 |
| Minicore myopathy 0.4189873417721491 0.0437946317228 0.965068106245123 1.0 1.0 2 P51114 1 |
| Aplasia hypoplasia of the eyelid 0.299035316520436 0.043121175429501 0.9656049394456244 1.0 1.0 13 Q6NUK1,O75792 2 |
| Gastritis 0.3395628761482464 0.0428778451482171 0.9657989095155984 1.0 1.0 5 Q05655,Q6PGP7,P49327,P50851 4 |
| Hyperconvex fingernails 0.3334704761211737 0.0421866910158219 0.9663498721465726 1.0 1.0 6 P51812 1 |
| Hyposmia 0.2895474368947556 0.0416606825424609 0.9667691975173268 1.0 1.0 15 P04062 1 |
| Abnormal circulating dicarboxylic acid concentration 0.2675066816089269 0.0415126808207442 0.966887183736068 1.0 1.0 42 P40855,P23786,Q9NSD9 3 |
| Membranoproliferative glomerulonephritis 0.4148734177215162 0.0413471373458767 0.9670191550098282 1.0 1.0 2 Q03252 1 |
| Abnormal blood inorganic cation concentration 0.2678113313366682 0.0386639974781552 0.969158277783892 1.0 1.0 40 P21964,Q9NSD9,Q9Y4P3,Q4J6C6,P10644,P61457,P49748,P05023,Q15043 9 |
| Onychomycosis 0.4079113924050603 0.0375441161328911 0.970051165336978 1.0 1.0 2 P40818 1 |
| Absent toenail 0.3246767946060298 0.0367882473632158 0.9706538449519516 1.0 1.0 7 P21281,P15924,Q14739 3 |
| Symptomatic seizures 0.299099882725777 0.0342279565669959 0.9726953734810002 1.0 1.0 8 Q16836,P53985,Q13423,O43826 4 |
| Epiphora 0.3494131883798858 0.0338949411841539 0.9729609272221896 1.0 1.0 4 Q15043 1 |
| Abnormality of skeletal muscle fiber size 0.2865415183027306 0.032996081639211 0.9736777123404634 1.0 1.0 16 O95831,Q9BPX6 2 |
| Decreased methylcobalamin 0.4187790223032535 0.0328522382348625 0.9737924205831308 1.0 1.0 3 O14678 1 |
| Stenosis of the external auditory canal 0.3230640703274055 0.0323412968401337 0.974199876300633 1.0 1.0 7 P16435 1 |
| Non midline cleft palate 0.3920886075949337 0.030353521174279 0.9757851124883898 1.0 1.0 2 O60716 1 |
| Bilateral cleft palate 0.3920886075949337 0.030353521174279 0.9757851124883898 1.0 1.0 2 O60716 1 |
| Increased circulating lactate dehydrogenase concentration 0.302919449784888 0.0296949136885806 0.9763103684230716 1.0 1.0 12 Q5JRX3,P23786,P10253 3 |
| Rheumatoid factor positive 0.4150047483380807 0.0296271711900433 0.9763643953456926 1.0 1.0 3 Q05655,P49327 2 |
| Persistent ebv viremia 0.4150047483380742 0.0296271711900381 0.9763643953456967 1.0 1.0 3 Q05655,Q9H0U3 2 |
| Abnormal circulating tyrosine concentration 0.3898734177215159 0.0294942183361257 0.976470430036553 1.0 1.0 2 Q9UJS0 1 |
| Night sweats 0.3895569620253134 0.0293742160557757 0.976566136535497 1.0 1.0 2 Q9UJS0 1 |
| Abnormal blood potassium concentration 0.2864061375276153 0.0274265496008563 0.9781195226912448 1.0 1.0 15 P0DP25,Q13423,P11166,P05023 4 |
| Hypoplasia of the iris 0.3211707233254098 0.0271926982333698 0.9783060395199136 1.0 1.0 7 O95202,P11047,Q7LGA3 3 |
| Dysphasia 0.2789940732849784 0.0259857941189875 0.9792686692767448 1.0 1.0 19 P21964 1 |
| Abnormality of the upper respiratory tract 0.2567884601602277 0.0256856474666562 0.9795080717436696 1.0 1.0 95 Q15165,P21964,P54802,Q7RTS9,P07602,Q13510,P35637,Q14739,Q9UHX1,P08236,Q9NZJ7,Q03518,P16435,Q96DX4,P04066,O43909 16 |
| Metaphyseal irregularity 0.3016778571514232 0.0250582016349058 0.9800085399670851 1.0 1.0 12 P50542,Q96DX4 2 |
| Extrapyramidal dyskinesia 0.4077060032596213 0.0238072473744885 0.9810063591201724 1.0 1.0 3 P11166 1 |
| Hypolipidemia 0.3699367088607564 0.0231640010249385 0.9815194539178986 1.0 1.0 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.3699367088607564 0.0231640010249385 0.9815194539178986 1.0 1.0 2 Q9Y6B6 1 |
| Slender long bone 0.2853475348271017 0.0227005376249322 0.9818891469844176 1.0 1.0 15 Q96DX4,Q9Y619 2 |
| Recurrent bacterial infections 0.280710649428944 0.022169918448559 0.9823124132912252 1.0 1.0 18 O00165,Q8N5M9 2 |
| Blue irides 0.3032184915453236 0.019860722226027 0.9841544780828032 1.0 1.0 9 P10644,Q9Y4P3 2 |
| Focal motor seizure 0.2777503310702853 0.0196722829495026 0.9843048015023208 1.0 1.0 19 O43909,O14617,O75503,Q9UBB4 4 |
| Periorbital fullness 0.2800633981112904 0.0190070128652763 0.984835510963721 1.0 1.0 18 P40855,Q7LGA3 2 |
| Anophthalmia 0.3027630158880924 0.018488865401285 0.9852488601713832 1.0 1.0 9 Q8NAT1,O43505,O75569,P53701 4 |
| Gastrointestinal stroma tumor 0.3370312448889643 0.0177845626425163 0.9858107200403212 1.0 1.0 4 P21912 1 |
| Abnormality of macular pigmentation 0.3982272871161761 0.0170342186126314 0.986409317222666 1.0 1.0 3 P55265,Q9UM00 2 |
| Thenar muscle atrophy 0.397357895183385 0.0164556491030561 0.986870884180706 1.0 1.0 3 Q15120 1 |
| Chylothorax 0.3300632911392371 0.0162433294723043 0.987040268095556 1.0 1.0 2 P52732 1 |
| Third degree atrioventricular block 0.3300632911392372 0.0162433294723043 0.987040268095556 1.0 1.0 2 P02545 1 |
| Abnormal venous morphology 0.2641903761940729 0.0160376219393529 0.9872043775819692 1.0 1.0 25 P21964,P04062 2 |
| Aplasia hypoplasia of the epiglottis 0.2993670886075915 0.0140715747661327 0.9887728782614053 1.0 1.0 2 Q15427 1 |
| Large hands 0.2986840882997593 0.0140514801079598 0.9887889098938976 1.0 1.0 12 P21912,O43175,Q13608,P51812 4 |
| Overriding aorta 0.2919928611266428 0.0137879583542048 0.9889991494631988 1.0 1.0 8 P53701 1 |
| Hypergalactosemia 0.3880974992086071 0.0107164565555527 0.991449668424948 1.0 1.0 3 Q96C23,Q9UJS0 2 |
| Aganglionic megacolon 0.2758936051926215 0.0103557822791203 0.991737428887472 1.0 1.0 19 P42892,P21964 2 |
| Coloboma 0.2594473964881786 0.0102507040310376 0.9918212647492624 1.0 1.0 48 Q7Z392,Q8NAT1,Q9Y5P6,O14936,Q8IY17,Q12768,P53701,O95202,O43924,Q9UHX1,Q96EK5,Q10713,O43505,O75340 14 |
| Abnormal labia morphology 0.2758622043099951 0.0101993516897253 0.9918622358477074 1.0 1.0 19 Q6NUK1,Q9Y619 2 |
| Atrophy degeneration affecting the cerebrum 0.2964218693285284 0.0097998039692524 0.9921810128651528 1.0 1.0 233 P04066,O60313,Q9H490,Q9Y4P3,O43924,P17900,Q9BT22,Q7LGA3,Q96A33,P00846,Q96N66,P31930,P40855,P00374,O76024,O75503,Q9Y619,P13073,P54886,Q5BJH7,P50897,P51812,Q15043,Q9Y263,Q86SQ9,P03886,O14617,Q9NSD9,P07602,O95831,Q9NZJ7,Q9Y5Y5,Q10713,P04062,O75208,Q5JRX3,Q9UHX1,O14773,Q13409 39 |
| Decreased adipose tissue 0.2867438174591851 0.0092982113676856 0.9925812076075567 1.0 1.0 14 O75844 1 |
| Multifactorial inheritance 0.2973604181212522 0.0092639812445663 0.9926085181180349 1.0 1.0 12 P42892 1 |
| Microretrognathia 0.2904090105261655 0.008636800037488 0.9931089162680647 1.0 1.0 13 Q8NCH0 1 |
| Decreased circulating cortisol level 0.2896444312521733 0.0073158471317546 0.9941628505933736 1.0 1.0 8 P16435,Q13423 2 |
| Limitation of joint mobility 0.2537128987059571 0.0061156105630298 0.9951204791681376 1.0 1.0 101 Q8TAA9,O76024,Q96AY3,Q9H6K4,O43909,P54802,Q7RTS9,P54886,Q9Y4P3,P23786,P08236,Q9BT22,Q7LGA3,P16435,Q96DX4,P51648,O75844 17 |
| Spinal cord compression 0.3765988328640148 0.0046058662919976 0.9963250633898508 1.0 1.0 3 O43909 1 |
| Metaphyseal widening 0.2796590112458567 0.0016951819038487 0.9986474411789616 1.0 1.0 16 Q96HY6,Q7RTS9,Q14739,O95831,Q96L58,Q9H9E3 6 |
| Abnormality of blood volume homeostasis 0.3223559214692888 0.0016139390963859 0.9987122634719668 1.0 1.0 4 P40763,O00330,Q13277 3 |
| Abnormality of the adrenal glands 0.2487427744504169 0.0010220201107514 0.9991845460747616 1.0 1.0 58 P21281,P40855,P50542,O75381,P21912,Q12768,O95470,P56589,P10644,Q13423,Q9Y5Y5,P16435,O75844 13 |
| Abnormal circulating aromatic amino acid concentration 0.3217226092463542 0.0009844271631602 0.9992145408921438 1.0 1.0 4 P16930,P61457,Q9UJS0 3 |
| Proximal upper limb amyotrophy 0.310798720434446 0.0003878534588461 0.9996905377210914 1.0 1.0 7 Q9Y6X9,P50402,O14979 3 |
| Abnormality of the musculature of the upper arm 0.310798720434446 0.0003878534588461 0.9996905377210914 1.0 1.0 7 Q9Y6X9,P50402,O14979 3 |
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