| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Variable expressivity 0.6173639810652278 4.213706281549451 2.512139352073284e-05 0.1096697188943201 0.060247707168323 82 Q9BVA1,Q9BUF5,Q9NQT5,Q13885,Q13510,Q9NZJ7,Q9H061,P04350,P00374,Q9H3H5,Q70HW3,P17900,P07196,P07602,Q15125,O95470,Q15058,Q9NR77,P03886,Q53H12,P00403,Q6P4A7,Q8TD16 23 |
| Phenotypic variability 0.5760593487599458 4.205429363598773 2.605869687211104e-05 0.113520239337682 0.060247707168323 102 Q9BVA1,P21912,Q9BUF5,Q9NQT5,Q13885,Q13510,Q9NZJ7,Q9H061,P04350,P00374,Q9H3H5,Q70HW3,P17900,P07196,P07602,O60313,Q15125,P00846,O95470,Q15058,Q9NR77,P03886,Q53H12,P00403,Q6P4A7,Q8TD16 26 |
| Dementia 0.5976573044519417 3.73683458499668 0.0001863514279774 0.577585957011622 0.2463593149540568 57 P27544,P21912,P04062,Q9Y487,Q7LG56,Q13510,Q9NZJ7,O76024,O43681,P04350,P17900,Q9NQZ5,P07602,O60313,P00846,Q14108,Q9UHD9,P03886,P00403 19 |
| Mental deterioration 0.5393086208486849 3.7029420279230214 0.0002131135942509 0.626763226705249 0.2463593149540568 98 P27544,Q10713,Q9BQE5,P21912,P04062,Q9Y487,Q7LG56,Q13510,Q9NZJ7,O76024,Q5XKP0,O43681,P04350,Q8NHS3,P50897,P17900,P54802,Q9NQZ5,P07602,O60313,O15118,P00846,O95470,P21964,Q14108,Q8WWI5,Q9UHD9,P03886,O75503,P00403 30 |
| Cognitive impairment 0.5077869531081106 3.622999930784602 0.0002912059003248 0.7399112033767237 0.2693072166204048 168 P27544,Q10713,Q9BQE5,Q9BVA1,P21912,O75306,P04062,Q6DKK2,O43819,Q9Y2R0,Q9Y487,Q7LG56,Q13510,Q9NZJ7,O76024,Q5XKP0,O43681,P04350,Q8NHS3,P50897,P61916,Q9NZ08,Q9NPL8,P17900,Q9UBB4,P54802,Q9Y619,P10644,P07196,P35637,Q99720,Q9NQZ5,P07602,P06280,O60313,O15118,Q9H6K4,Q9Y5Y5,Q9NQ48,P00846,Q9Y5P6,O95470,P16278,P21964,Q6PML9,O75381,Q14108,P40855,O43826,P13473,Q8WWI5,Q9UHD9,P50542,P49770,P03886,O75503,Q6PGP7,P00403 58 |
| Postural tremor 0.7503123964739923 3.2642478549229086 0.0010975510573816 0.9937667861125776 0.363777464076236 19 O14773,Q9H6K4,Q9NR77,P00846,P04350,Q14108 6 |
| Rigidity 0.5632217178644678 3.1609293881159033 0.0015726661806845 0.9993092500334968 0.363777464076236 52 Q15392,P04062,Q9H6K4,P00846,Q7LG56,Q96CU9,Q9NZJ7,P04350,P07602 9 |
| Hypertrophic cardiomyopathy 0.4631640263844743 3.1233086759154323 0.0017883008934762 0.9997455753866608 0.363777464076236 112 Q9P0J0,Q13423,P21912,O75306,O43819,Q9NVI7,Q86Y39,Q5XKP0,Q9H061,P10253,Q9Y6M9,Q9NPL8,P16930,P15586,Q7KZN9,Q96CU9,P54802,Q99797,P50402,Q96IX5,Q9BUB7,O60313,P00846,Q15056,P16278,O43676,Q8N183,P53701,Q9Y4P3,P50416,P13473,P03886,O96000,Q53H12,P00403,P40939 36 |
| Biliary tract abnormality 0.6764267229352101 3.1212404880326514 0.0018009089877182 0.9997600093567076 0.363777464076236 26 Q10713,Q9UJW0,P04062,P50542,O95202,Q9NSD9,Q9NZJ7,P09601,Q14739,Q5XKP0,O43681,P07602,Q14108 13 |
| Abnormal circulating lipid concentration 0.5100855613851697 3.08814634688164 0.0020140925877318 0.9999106148078408 0.363777464076236 81 Q8N511,Q969N2,P49257,Q9NVI7,Q9NZJ7,Q9BV10,Q15800,Q13045,P23786,P50402,P22830,P07602,Q15125,Q9Y5Y5,Q15904,O95470,Q15056,Q14739,O75880,O75844,O75381,P40855,P50416,Q15392,Q9Y4P3,P50542,O43826,P40939 28 |
| Horizontal nystagmus 0.6935612830456961 3.085524719226839 0.0020319333335421 0.999917706494172 0.363777464076236 23 O14773,O60313,P04062,P00846,Q9NW15,Q9NZJ7,Q9H061,P07602 8 |
| Peripheral demyelination 0.738249634570186 3.05768720960896 0.0022305226637187 0.999967212285325 0.363777464076236 18 Q9NR77,P00846,P03886,Q9NZJ7,P50570,O43681,P07602 7 |
| Abnormal biliary tract morphology 0.6892213507935401 3.0574406866003803 0.0022323581608303 0.999967490005256 0.363777464076236 23 Q10713,P04062,Q9NZJ7,P09601,Q5XKP0,P07602,Q14108 7 |
| Sensorimotor neuropathy 0.6348000295912899 3.05325523103606 0.0022637331166734 0.9999718895076334 0.363777464076236 33 P05023,Q9NR77,P00846,P03886,Q9Y2R0,Q7LG56,Q9NZJ7,P07196,P00403,P40939,P07602 11 |
| Gait ataxia 0.5178989991272416 3.0290533144165632 0.002453213859396 0.9999883195948914 0.363777464076236 67 Q10713,O14773,Q9NR77,P00846,P03886,Q9NVI7,Q8IV08,Q7LG56,Q9NW15,Q9NZJ7,Q05086,P07196,Q15907,O43681,P04350,P07602,Q14108 17 |
| Clumsiness 0.6927803264361826 2.992417553086774 0.0027677741554279 0.9999972828626854 0.363777464076236 21 O14773,O43819,Q9NR77,O75503,Q05086,Q9NZJ7,Q13510,O43681,Q15067,P07602 10 |
| Muscle abnormality related to mitochondrial dysfunction 0.5943510208212024 2.9863104890487846 0.0028236579129217 0.9999979031254702 0.363777464076236 42 Q9Y6M9,Q8N183,P00403,O60313,O75306,P00846,P03886,Q9Y2R0,Q9NP80,O96000,Q9UBX3,Q7LG56,Q96CU9,Q53H12,Q86Y39,O43676,Q9BUK6 17 |
| Respiratory distress 0.5308788805885449 2.970460329289547 0.0029735380773048 0.9999989535668992 0.363777464076236 54 P53701,Q9UHX1,P04062,Q969X5,P00846,P03886,P23786,Q9NZJ7,Q13510,Q9Y619,P04350,P07602,P10253 13 |
| Corneal opacity 0.518327399889864 2.9692742851076326 0.0029850402048969 0.9999990079258566 0.363777464076236 56 P04062,O95202,Q9NVI7,Q6NUK1,Q13510,Q8NAT1,P51648,Q03001,P04066,Q06136,Q9Y5Y5,P10619,P08236,Q15056,O75844,O75381,P40855,P53701,Q9Y4P3,P50542,Q9Y2B2 21 |
| Erythema 0.6884871479367346 2.9651275877926295 0.0030255742000637 0.9999991779479848 0.363777464076236 21 Q06136,P51648,P53701,Q15125,P03886,P00403,P22830,P98194,Q9Y2B2 9 |
| Mitochondrial myopathy 0.6227636103276252 2.9641778265169973 0.0030349285060193 0.9999992128507368 0.363777464076236 33 Q9Y6M9,Q8N183,P00403,O60313,O75306,P00846,P03886,Q9NP80,O96000,Q7LG56,Q96CU9,Q53H12,Q86Y39,O43676,Q9BUK6 15 |
| Abnormal glycosylation 0.680562680368888 2.9566854886344816 0.0031096512987658 0.999999443406654 0.363777464076236 22 Q8N511,Q2TAA5,Q9H3H5,Q9BT22,Q9Y487,Q15904,P46977 7 |
| Respiratory failure 0.5114289009847987 2.9545818211010313 0.0031309311881815 0.9999994957215008 0.363777464076236 66 O75306,O43819,Q9NSD9,Q13510,Q9NZJ7,Q15165,Q5XKP0,P10253,Q70HW3,P23786,Q9Y619,P35637,P07602,Q9BUB7,Q68CQ7,Q9Y5P6,Q9BT22,Q8N183,P53701,Q9UHD9,P40939,Q8TD16 22 |
| Muscle stiffness 0.6850095695182101 2.942956564462507 0.0032509402685778 0.9999997109989516 0.363777464076236 21 Q15392,P00846,P23786,Q9NZJ7,P53985,P07602 6 |
| Bulbar signs 0.8301630954846897 2.9376709325241763 0.0033068781906067 0.9999997770555892 0.363777464076236 12 P04062,P00846,P03886,Q9NZJ7,Q99720,O43681,P07602 7 |
| Abnormal peripheral myelination 0.6217223682083548 2.936935595334154 0.0033147293620021 0.9999997850300928 0.363777464076236 32 Q9NR77,P00846,O15269,P03886,Q7LG56,Q9NZJ7,P50570,O43681,P07602 9 |
| Progressive gait ataxia 0.7995241620947278 2.929521376470058 0.0033948446175153 0.9999998517651062 0.363777464076236 13 O14773,P00846,Q05086,Q9NZJ7,O43681,P07602 6 |
| Action tremor 0.5197282375097707 2.9211034005497445 0.0034879404449263 0.9999999037608268 0.363777464076236 55 Q9BUB7,O14773,Q9H6K4,Q9NR77,P00846,P03886,Q9NW15,Q9NZJ7,Q99720,O43681,P04350,P07602,Q14108 13 |
| Optic disc pallor 0.5246803937897265 2.910345756424215 0.0036102911768429 0.9999999454525136 0.363777464076236 54 Q10713,O75306,Q86Y39,Q9H061,Q8NHS3,Q9Y6M9,Q9NPL8,Q9H3H5,Q96S66,Q96CU9,Q9UG56,O60313,Q9H6K4,Q13277,P00846,O95831,O43676,Q8N183,O95140,P03886,O96000,Q9BUK6 22 |
| Schizophrenia 0.6843014731736063 2.8982443953203663 0.0037525804730382 0.9999999718176812 0.363777464076236 20 Q9BQE5,Q9BUK6,P04062,Q9NZJ7,P21964,O43681,P07602,P16615 8 |
| Abnormal retinal artery morphology 0.653990919055559 2.8710697691225717 0.0040908522386167 0.9999999941387216 0.363777464076236 24 P10619,P00846,P17900,P03886,Q9NZJ7,Q13510,P21964,P07602 8 |
| Abnormality of hepatobiliary system physiology 0.4902296954740542 2.8687449896913946 0.0041210390928385 0.999999994905262 0.363777464076236 81 Q8N511,Q10713,P04062,O43819,Q13510,Q5XKP0,Q96A33,P16930,P23786,Q9Y619,P22830,O15118,Q9Y5Y5,P00846,Q9BT22,P22695,O75381,P40855,P50542,P03886,Q6PGP7,P40939 22 |
| Abnormality of head blood vessel 0.632374372520731 2.851124445855101 0.0043564915444729 0.9999999982928224 0.363777464076236 27 P10619,P00846,P17900,P03886,Q9NZJ7,Q13510,P21964,P07602 8 |
| Myoclonus 0.4709865241905876 2.8508299388544183 0.0043605284400363 0.9999999983245308 0.363777464076236 95 P13073,P27544,Q10713,O14773,P04062,P00846,P03886,O75503,Q9UBX3,Q05086,Q96CU9,Q13510,Q9NZJ7,P50897,P00403,Q9NQZ5,P07602,Q14108 18 |
| Abnormal protein glycosylation 0.7005985828770893 2.8322360086249048 0.0046223717332447 0.9999999995034806 0.363777464076236 18 Q8N511,Q2TAA5,Q9H3H5,Q9BT22,Q9Y487,Q15904 6 |
| Hepatic failure 0.5358600439908165 2.8049066384336445 0.0050331155990608 0.9999999999263643 0.363777464076236 50 P40855,Q10713,O15118,P04062,P16930,Q9Y5Y5,P00846,P03886,P23786,P40939,Q6PGP7,Q13510,Q9Y619,P22830,O75381 15 |
| Polyneuropathy 0.6735216072794536 2.7922719802215163 0.0052339341959086 0.9999999999710448 0.363777464076236 19 O60313,Q9HC21,P00846,P03886,O95831,Q9NZJ7,P04066,P07602 8 |
| Delusions 0.6931575037768226 2.786942760051061 0.0053207876471601 0.9999999999806632 0.363777464076236 18 Q9BQE5,P04062,Q96DF8,Q9NZJ7,P21964,O43681,P07602 7 |
| Hyperintensity of cerebral white matter on mri 0.6922402819377057 2.7813425269971286 0.0054134586699869 0.9999999999874316 0.363777464076236 18 P21912,P17900,O75503,Q9NZJ7,O43681,P07602,Q9BUK6 7 |
| Fetal ultrasound soft marker 0.7117400591422198 2.779156823943212 0.0054500206417562 0.9999999999893964 0.363777464076236 17 P40855,Q15125,P50542,Q9Y5Y5,Q9H6U8,P16435,O75381,Q9Y2B2 8 |
| Ragged red muscle fibers 0.6462153821293475 2.7739655219912436 0.0055377546856711 0.9999999999929482 0.363777464076236 23 P00846,P03886,Q70HW3,Q7LG56,P00403,Q9H2D1 6 |
| Abnormality of retinal pigmentation 0.4831665478337009 2.7668695248417357 0.0056597401810662 0.999999999996001 0.363777464076236 79 Q9P0J0,P21912,O75306,Q7LG56,O76024,Q8NHS3,P51648,Q13432,Q96S66,Q7KZN9,Q96CU9,Q96HR9,Q15067,Q9UG56,Q7Z4L5,Q9Y5Y5,P00846,Q9Y5P6,O75381,P40855,Q8N183,P53701,P50542,P03886,P00403,P40939,Q9BUK6 27 |
| Cns demyelination 0.7665290237884433 2.7563775751181394 0.0058445487033329 0.9999999999983068 0.363777464076236 13 P40855,P51648,Q9H9P8,Q9NZJ7,Q15067,P07602 6 |
| Progressive neurologic deterioration 0.6553901756150835 2.751701914882066 0.0059286458674152 0.999999999998855 0.363777464076236 21 Q10713,P04062,Q7LG56,Q9NZJ7,P54802,Q5XKP0,O43681,P07602 8 |
| Abnormal tissue metabolite concentration 0.7442103871683451 2.748608328152505 0.0059848854665098 0.9999999999991186 0.363777464076236 15 P40855,Q9Y5Y5,P17900,O75381,Q9NZJ7,O43681,P07602 7 |
| Psychomotor deterioration 0.8442707254815954 2.743610495794205 0.0060767593286792 0.9999999999994252 0.363777464076236 10 P07602,Q7LG56,Q9Y487,P50897 4 |
| Proximal muscle weakness 0.4883088559534441 2.724847901670636 0.0064331114944411 0.9999999999998904 0.363777464076236 68 P21912,Q7LG56,Q13510,Q8NAT1,Q8NI60,P10253,Q9H3H5,P50402,P35637,P07196,Q99720,O60313,Q9Y5P6,P00846,Q9NP80,P50570,Q9BQT8,Q13126,Q8TD16,Q9BUK6 20 |
| Episodic vomiting 0.7846976360819253 2.708384812641376 0.0067611577444239 0.9999999999999762 0.363777464076236 12 Q2TAA5,P00846,P03886,Q9NP80,Q9Y619,P00403 6 |
| Frequent falls 0.5448552982957914 2.6741036470630366 0.0074929289608178 0.9999999999999992 0.363777464076236 45 P21912,P04062,Q7RTS9,P00846,Q9NR77,P40939,Q7LG56,Q9NZJ7,Q13510,O43681,P07602 11 |
| Muscle spasm 0.4850957085829397 2.6600560424259636 0.007812765047187 0.9999999999999998 0.363777464076236 63 P04062,Q7LG56,Q15165,P05023,Q9H3H5,P23786,P35637,P07196,O43175,O14662,P06280,Q68CQ7,Q9H6K4,Q16637,Q9Y5P6,P00846,P13473,Q9UHD9,Q9NR77,Q12768,P53985,P40939 22 |
| Abnormal circulating cholesterol concentration 0.5799234420429205 2.658230842551799 0.0078552067886443 1.0 0.363777464076236 34 Q8N511,Q15392,Q15125,O43826,Q9NVI7,Q15904,P50402,Q9NZJ7,Q9BV10,Q14739,Q15800,P07602,Q13045 13 |
| Abnormal csf protein level 0.723502717828498 2.6328138601294313 0.0084680742398091 1.0 0.363777464076236 15 Q9NR77,P03886,Q7LG56,Q9NZJ7,P00403,P07602 6 |
| Visual field defect 0.5353636765549342 2.6277892053755383 0.0085941753215854 1.0 0.363777464076236 46 P40855,P00403,Q9BVA1,O60313,Q9H6K4,Q9Y5Y5,P00846,P03886,Q9H061,O75381,Q8NHS3 11 |
| Vascular skin abnormality 0.4062505729768312 2.6262191267196973 0.0086339215441046 1.0 0.363777464076236 122 Q969N2,P21912,O75306,P04062,P49257,P38435,Q9Y487,Q6NUK1,P51648,Q08J23,Q8IZA0,P04066,P10644,P22830,P06280,Q06136,Q15125,P00846,P10619,Q8NCH0,Q14739,O75844,P21964,P16278,P98194,Q14108,P53701,O43826,P03886,P07858,P00403,Q13126,Q9Y2B2 33 |
| Weakness due to upper motor neuron dysfunction 0.4138549614436926 2.6105786953969914 0.009038917263314 1.0 0.363777464076236 135 Q9P0J0,Q9BVA1,Q13423,P21912,P04062,Q6DKK2,Q7LG56,Q13510,Q9NZJ7,Q5XKP0,O43681,Q9NZ08,Q7RTS9,P17900,Q7KZN9,Q96CU9,Q9Y619,P35637,P07602,O60313,Q9H6K4,Q9H9P8,Q9Y5Y5,P00846,Q9Y5P6,Q9NP80,P51572,Q9UBX3,Q8N183,P50416,P03886,Q12768,P00403 33 |
| Ichthyosis 0.5733855621765248 2.6072367836602095 0.0091276216950417 1.0 0.363777464076236 34 P40855,P51648,Q15125,P04062,Q9Y5Y5,P50542,P50402,O95470,Q15800,O75381,Q9Y2B2 11 |
| Thickened skin 0.4438211217735673 2.6065375178856285 0.0091462803357607 1.0 0.363777464076236 100 P21912,P04062,P07437,P00813,Q15800,P51648,Q9H3H5,P42167,P50402,P04066,O43175,Q06136,Q15125,Q9Y5Y5,O95470,Q14739,O75844,O75381,P98194,P16615,P40855,P50542,O15269,Q9Y2B2 24 |
| Underdeveloped supraorbital ridges 0.7633506522089079 2.598444653741791 0.0093647140187009 1.0 0.363777464076236 12 P40855,P50542,Q9Y5Y5,Q6PGP7,Q6NUK1,P16435,O75381 7 |
| Gowers sign 0.6810260180024763 2.59587321705539 0.0094350872536868 1.0 0.363777464076236 17 Q9H3H5,Q9NP80,Q13510,Q8NAT1,P07196,Q8TD16,Q9BUK6 7 |
| Visual loss 0.5003053937513967 2.564500076165136 0.0103324556672017 1.0 0.363777464076236 52 Q10713,O14773,P53701,P00846,P03886,O75503,Q9NZJ7,P50897,P00403,P40939,Q8NHS3,P07602 12 |
| Pigmentary retinopathy 0.5102249662481438 2.564357048283743 0.0103367149522313 1.0 0.363777464076236 50 Q9P0J0,P21912,O75306,Q7LG56,O76024,Q8NHS3,Q96S66,Q7KZN9,Q96CU9,Q15067,Q9UG56,Q9Y5P6,P00846,Q8N183,P53701,P50542,P03886,P00403,P40939,Q9BUK6 20 |
| Splenomegaly 0.4520112309126359 2.557917093760264 0.0105301193773579 1.0 0.363777464076236 91 Q10713,P04062,Q13510,Q9NZJ7,P00813,P10253,Q96A33,Q9NZ08,P16930,Q6NUQ1,P15586,P54802,P04066,P07602,O15118,Q9BT22,Q15904,P08236,Q14739,P21964,Q14108,Q15392,Q6PGP7 23 |
| Abnormalities of placenta or umbilical cord 0.7287702896129901 2.5535872303703995 0.0106619568218351 1.0 0.363777464076236 13 O43175,P16278,Q6PGP7,O75844,P16435,Q9Y2B2 6 |
| External ear malformation 0.727876376324641 2.548724656755342 0.0108117624852897 1.0 0.363777464076236 13 P40855,Q9Y5Y5,P07437,Q8NCH0,O75381 5 |
| Abnormal epiphyseal ossification 0.6528766096683417 2.5373791693093364 0.011168591535007 1.0 0.363777464076236 18 P40855,Q15125,Q7RTS9,P50542,Q9Y5Y5,P38435,O00116,P08236,Q14739,O75381,Q9UG56 11 |
| Reduced visual acuity 0.4070335472197212 2.5229486472094873 0.0116375394218133 1.0 0.363777464076236 118 Q10713,P68371,O75306,Q9UHX1,P21912,Q9NZJ7,Q86Y39,Q9H061,O43681,Q8NHS3,P50897,Q9Y6M9,Q9NZ08,Q9NPL8,P17900,Q96CU9,Q96HR9,P07602,O60313,Q9H6K4,Q13277,P00846,Q9Y5P6,P16278,O43676,Q8N183,P53701,Q15058,P03886,O96000,P49770 31 |
| Spastic tetraparesis 0.5896321954629498 2.515536827097523 0.0118851259719341 1.0 0.363777464076236 26 Q9H9P8,Q7RTS9,P00846,P17900,Q9NZJ7,P07602 6 |
| Abnormal activity of mitochondrial respiratory chain 0.472582574460225 2.510197583536849 0.0120663625847734 1.0 0.363777464076236 59 Q9P0J0,Q9Y6M9,O43676,P13073,Q8N183,P21912,O75306,Q70HW3,Q9Y2R0,P03886,O96000,Q9UBX3,Q7KZN9,Q96CU9,Q86Y39,Q9Y584 16 |
| Peripheral axonal neuropathy 0.4726850822113417 2.502181122133438 0.0123430760733849 1.0 0.363777464076236 56 P00403,P00846,P03886,O15269,Q9NVI7,Q8IV08,Q7LG56,Q9NZJ7,P07196,O76024,P50570,Q15067,P07602 13 |
| Abnormality of the biliary system 0.4152244939850631 2.484258003337279 0.0129821711801554 1.0 0.363777464076236 112 Q10713,P04062,O95202,Q13510,P09601,Q9NZJ7,Q5XKP0,O43681,P00374,Q96A33,Q9H3H5,Q6NUQ1,P04066,P22830,P07602,O15118,Q9Y5Y5,Q15904,Q15056,P21964,O75381,Q14108,P40855,Q9Y4P3,Q8WWI5,P50542,Q6PGP7,P40939 28 |
| Macular degeneration 0.713875338047647 2.472185794475627 0.0134289703817787 1.0 0.363777464076236 13 P51648,Q13510,P50897,P04062 4 |
| Abnormal retinal vascular morphology 0.4692082988558151 2.4682588745277263 0.0135772090212291 1.0 0.363777464076236 57 P21912,Q9Y4P3,P38435,P10619,P17900,P00846,P03886,Q9NZJ7,Q13510,P21964,O43826,P07602 12 |
| Increased cerebral lipofuscin 0.9277589916999716 2.4654573823986747 0.0136838452439955 1.0 0.363777464076236 5 O14773,Q9NZJ7,P07602,P50897 4 |
| Ventricular arrhythmia 0.5356641435185718 2.463769418857112 0.0137484525641085 1.0 0.363777464076236 41 P21912,O75306,P13473,P00846,P03886,P23786,Q03001,Q7LG56,P50402,P00403,P42892,P10253 12 |
| Segmental peripheral demyelination remyelination 0.8984676820164555 2.461596757988847 0.0138320082702183 1.0 0.363777464076236 6 P50570,Q9NR77,P00846,P03886 4 |
| Brittle hair 0.7029131156833324 2.461228861528108 0.0138462010548048 1.0 0.363777464076236 14 Q6PGP7,O75844,Q9Y487,Q9NVI7 4 |
| Central scotoma 0.7607286950459632 2.4568383185019114 0.0140165753574874 1.0 0.3654491070564935 11 O60313,O95140,O75306,Q9H6K4,P00846,P03886,Q9H061,Q8NHS3 8 |
| Abnormality of the larynx 0.5200308416745874 2.453476904042177 0.0141482624636497 1.0 0.3654491070564935 45 Q68CQ7,Q9UHX1,Q9UHD9,Q9NZJ7,Q13510,P35637,Q15165,P16435,P07602,P21964 10 |
| Progressive spastic quadriplegia 0.8437527638820215 2.4508507181530237 0.0142519046291627 1.0 0.3654491070564935 8 O43681,Q9NZJ7,P07602 3 |
| Hypocholesterolemia 0.803068071212429 2.444649999701292 0.0144992773468328 1.0 0.3654491070564935 9 Q15800,P07602,Q9NZJ7,Q9NVI7 4 |
| Epiphyseal stippling 0.708349751925228 2.4417825756454077 0.0146149456685329 1.0 0.3654491070564935 13 P40855,Q15125,Q9Y5Y5,P38435,P50542,O00116,P08236,Q14739,O75381 9 |
| Paraparesis 0.5672594951049935 2.4416299383728397 0.0146211256067152 1.0 0.3654491070564935 29 Q6DKK2,P21912,P04062,Q9H6K4,Q9Y5Y5,Q13510,Q9Y619,Q5XKP0 8 |
| Abnormality of central nervous system electrophysiology 0.4098211912480008 2.4213830349884184 0.0154615758839153 1.0 0.3690432932088338 149 Q969N2,Q9BQE5,O95202,Q13885,Q9NZJ7,Q8NHS3,P50897,Q96A33,Q96C86,Q9H3H5,P07196,Q9NQZ5,Q15067,P07602,Q2TAA5,O43175,O43292,O60313,Q15125,Q9Y5Y5,Q8NB90,Q9Y5P6,Q9UBX3,Q05086,P21964,O75381,Q14108,P13073,P40855,Q8WWI5,P50542,P03886,O75503,P00403,Q9Y2B2 35 |
| Hypopigmented skin patches 0.5878724311741281 2.414302492821638 0.0157653677195446 1.0 0.3690432932088338 24 P53701,P21912,Q8IZA0,Q9NZJ7,P21964,P07602 6 |
| Elevated pulmonary artery pressure 0.5812159447309331 2.409495679069614 0.0159745852249724 1.0 0.3690432932088338 25 P00403,P04062,P03886,Q8IZA0,Q6NUK1,O75844,O43826,Q14108 8 |
| Abnormality of the cerebrospinal fluid 0.4034478889440278 2.401768457149098 0.0163160322085464 1.0 0.3690432932088338 141 Q9P0J0,Q10713,O75306,P04062,Q8TAA9,O43819,Q9HC21,O95202,Q7LG56,Q9NZJ7,Q86Y39,Q6NUK1,Q8NAT1,O43681,Q8NI60,Q9Y6M9,Q9NPL8,Q08J23,P23786,Q7KZN9,Q96CU9,P10644,P16435,P07602,P07237,Q15125,P00846,Q9Y5P6,Q16625,P08236,P21964,O43676,Q9H490,P13073,P40855,Q8N183,P53701,Q15392,Q9NR77,P03886,O96000,Q12768,P00403 43 |
| Incoordination 0.452386796524328 2.397941187706036 0.0164875122453771 1.0 0.3690432932088338 77 Q10713,Q6DKK2,P21912,P04062,O43819,Q7LG56,Q13510,Q9NZJ7,O43681,Q9H3H5,Q7RTS9,Q9Y619,Q15067,P07602,P00846,Q05086,O14773,Q9NR77,O75503,P40939 20 |
| Abnormality of the spleen 0.3943677114687938 2.395233221995277 0.0166097964587597 1.0 0.3690432932088338 120 Q10713,P04062,O95202,Q13510,Q9NZJ7,P00813,P10253,Q96A33,Q9NZ08,P16930,Q6NUQ1,P15586,Q9H6U8,P54802,P04066,P07602,O15118,P10619,Q9BT22,Q15904,P08236,Q14739,P21964,Q14108,Q15392,Q6PGP7 26 |
| Hemiparesis 0.6651040204399609 2.393949005918325 0.0166680659951836 1.0 0.3690432932088338 16 O60313,Q9BVA1,P03886,Q9NP80,P00403 5 |
| Functional motor deficit 0.4085165919931973 2.3930483584286946 0.0167090386453081 1.0 0.3690432932088338 150 Q8TD16,P21912,P04062,O43819,Q9HC21,Q9Y2R0,Q7LG56,Q13510,Q9NZJ7,O43681,Q9H2D1,Q8NI60,Q9H3H5,Q7RTS9,P23786,P07196,P35637,Q99720,Q15067,P07602,O43292,P00846,Q9Y5P6,Q05086,P50570,Q6PML9,O14773,P53701,P13473,Q9NR77,P03886,Q12768,Q53H12,P00403,P40939,Q15907,Q9BUK6 37 |
| Abnormal muscle fiber morphology 0.453447367007921 2.3848369541544545 0.0170866923294741 1.0 0.3690432932088338 74 O43676,P00403,O60313,P50570,Q9H3H5,P00846,Q70HW3,P03886,P23786,Q7LG56,P50402,P35637,P07196,Q99720,Q9H2D1,Q8NI60,Q9BUK6 17 |
| Nonprogressive 0.8793474004692715 2.3805617612240852 0.0172862630385566 1.0 0.3690432932088338 6 Q10713,Q9BUF5 2 |
| Dysmetria 0.4608757344769022 2.3798676526577607 0.0173188569693591 1.0 0.3690432932088338 57 Q10713,Q6DKK2,Q7LG56,Q9NW15,Q9NPL8,O43292,O60313,O75027,Q9Y5Y5,Q9NP80,Q15056,Q8N183,O14773,Q9Y4P3,O75503,Q8IV08,Q12768,Q6P4A7,Q9BUK6 19 |
| Hemianopia 0.8270816310067151 2.3757302923580057 0.0175142594128481 1.0 0.3714951170872005 8 P03886,Q9BVA1 2 |
| Cherry red spot of the macula 0.7857368506822858 2.362469665229687 0.018153627065671 1.0 0.3812658200593612 9 Q13510,Q9NZJ7,P17900,P07602 4 |
| Very long chain fatty acid accumulation 0.8738631788486666 2.3571770085465067 0.0184144668841359 1.0 0.3835517787038046 6 P40855,Q9Y5Y5,O75381 3 |
| Mitochondrial inheritance 0.8996373016991019 2.348816449890253 0.018833188201438 1.0 0.3840768737069684 5 P00846,P03886 2 |
| Cortical dysplasia 0.550525043229501 2.346434743107944 0.0189539849522681 1.0 0.3840768737069684 30 P07437,Q9BVA1 2 |
| Periventricular white matter hyperintensities 0.8580374480736361 2.3429833584345374 0.0191302363544729 1.0 0.3840768737069684 7 O43681,Q9NZJ7,P17900,P07602 4 |
| Metaphyseal striations 0.895882253468995 2.3331247483470903 0.0196415989043876 1.0 0.3852370186335624 5 P00813,Q13126 2 |
| Decreased muscle mass 0.6207642832435847 2.3329747576479085 0.0196494701896701 1.0 0.3852370186335624 18 Q8TAA9,O95202,Q9Y487,Q7LG56,P04066,Q8NCH0 6 |
| Thickened nuchal skin fold 0.7126970943714842 2.3315094717782108 0.0197265112121138 1.0 0.3852370186335624 12 P40855,Q15125,P50542,Q9Y5Y5,O75381 5 |
| Abnormal retinal morphology 0.4438985011120926 2.319534771961074 0.0203660579918103 1.0 0.3932605922165201 224 Q9P0J0,Q10713,P68371,Q9UHX1,P04062,P21912,Q96DF8,Q9Y2B2,P07437,P38435,O95202,Q9Y487,O43819,Q9NQT5,Q7LG56,Q9NW15,Q13510,Q9NZJ7,Q9BV10,Q8NAT1,O76024,Q5XKP0,Q8NHS3,P50897,Q9NZ08,P51648,Q13432,Q7LGA3,Q9H3H5,P17900,Q7KZN9,Q96CU9,Q9Y619,Q96HR9,Q15067,P07602,Q9UG56,O60313,Q96PZ0,Q9Y5Y5,P00846,P10619,Q9Y5P6,Q15056,Q8NCH0,P16278,P21964,P50570,O75381,P40855,O14773,P53701,Q9Y4P3,O43826,P50542,P03886,O75503,P00403,P40939,Q9BUK6 60 |
| Abnormal chorioretinal morphology 0.5586462174028397 2.3161544325680885 0.020549838163548 1.0 0.3932605922165201 27 P40855,Q10713,P53701,Q9Y5Y5,P50542,P40939,Q8NAT1,Q9Y619,Q5XKP0,O75381 10 |
| Abnormal choroid morphology 0.5505049839276455 2.3141330988404545 0.0206604223274569 1.0 0.3932605922165201 29 P40855,Q10713,P53701,Q9Y5Y5,P50542,P40939,Q8NAT1,Q9Y619,Q5XKP0,O75381 10 |
| Abnormal circulating long chain fatty acid concentration 0.8899477405471892 2.3082693198872817 0.0209841617366817 1.0 0.3932605922165201 5 P40855,Q9Y5Y5,O75381,P23786 4 |
| Generalized joint laxity 0.7299953166631736 2.2995935392538125 0.0214712584676823 1.0 0.3939805522006482 11 Q8NCH0,Q9UHX1,Q9Y487 3 |
| Toe walking 0.5708778632786103 2.292885603215487 0.0218545918887409 1.0 0.3954676617751445 24 Q8TD16,Q9NP80,P40939,P50402,Q9NZJ7,Q99720,O43681,P07602 8 |
| Abnormal cranial nerve physiology 0.4470632874310755 2.2907441542017817 0.0219782152740726 1.0 0.3954676617751445 71 P40855,Q9NZ08,P21912,Q9UHX1,Q9BUF5,O43819,Q9H3H5,Q9Y5Y5,P50542,Q9NR77,Q7LG56,Q13510,Q9NZJ7,P07196,P50570,O75381,P07602 17 |
| Abnormal pupillary light reflex 0.8846485053976949 2.286016548406016 0.022253290457826 1.0 0.3954676617751445 5 Q9NR77,P07602 2 |
| Slow pupillary light response 0.8846485053976949 2.286016548406016 0.022253290457826 1.0 0.3954676617751445 5 Q9NR77,P07602 2 |
| Dyspnea 0.4110181060503635 2.275112558929709 0.0228991784651397 1.0 0.3995690612181372 105 Q68CQ7,P53701,Q9UHX1,P04062,Q9UHD9,Q969X5,P00846,P03886,P23786,Q7LG56,Q13510,Q9NZJ7,O75844,Q15165,Q9Y619,P04350,P07602,P10253 18 |
| Distal arthrogryposis 0.8805681457664062 2.2688448286815635 0.0232777637736976 1.0 0.4004329664152745 5 Q8NCH0 1 |
| Cirrhosis 0.5216187431861891 2.2685602054700436 0.0232950839026186 1.0 0.4004329664152745 38 Q10713,P04062,P16930,Q6PGP7,Q7LG56,P22830,Q14108 7 |
| Abnormality of the mitochondrion 0.4156020003227522 2.2612400778019563 0.0237443945842663 1.0 0.4060125801405594 101 Q9P0J0,P21912,O75306,Q9Y2R0,Q7LG56,Q86Y39,Q9Y6M9,Q70HW3,P23786,Q7KZN9,Q96CU9,P35637,Q9Y584,Q9BUB7,P00846,Q9UBX3,O75880,O43676,P13073,Q8N183,P50542,P03886,O96000,P00403,P40939 25 |
| Juvenile onset 0.5121675319020849 2.260418531112911 0.0237952874606599 1.0 0.4060125801405594 41 O14773,O15118,O75027,Q14566,Q9NR77,P49770,P51649,P50402,P54802,Q13510,P07196,P16278,P50570,Q8NHS3,Q9H269 15 |
| Abnormal peripheral nervous system physiology 0.4732250200660672 2.2496518883926284 0.0244710518484341 1.0 0.4123943998718599 51 O60313,P50570,Q9NR77,O15269,Q7LG56,Q9NZJ7,Q9Y619,P07196,Q99720,O43681,Q9NQZ5,P07602 12 |
| Scotoma 0.6655131209479821 2.2483406469698033 0.024554476717113 1.0 0.4123943998718599 14 O60313,O95140,O75306,Q9H6K4,P00846,P03886,Q9H061,Q8NHS3 8 |
| Spastic paraparesis 0.5789646137595593 2.237278032812325 0.0252681740286488 1.0 0.4123943998718599 21 P21912,P04062,Q9H6K4,Q9Y5Y5,Q9Y619,Q5XKP0 6 |
| Blindness 0.4333915719167629 2.2330372292575804 0.0255464893921464 1.0 0.4123943998718599 83 P21912,O75306,Q9NZJ7,Q86Y39,Q8NHS3,P50897,Q9Y6M9,Q9NZ08,P17900,Q96CU9,Q96HR9,P07602,Q9H6K4,P00846,Q9Y5P6,P16278,O43676,Q8N183,P53701,Q15058,P03886,O96000,P49770 23 |
| Dysarthria 0.4031245650032349 2.23176987039798 0.0256301766295152 1.0 0.4123943998718599 159 Q9P0J0,Q10713,Q6DKK2,O75306,P04062,O43819,Q7LG56,Q9NW15,Q9NZJ7,O76024,Q5XKP0,O43681,P04350,P61916,P51648,Q08J23,P15586,Q7KZN9,Q96CU9,P07196,P35637,P07602,O43292,O15118,Q9H6K4,O75027,Q9Y5Y5,P00846,Q9NP80,Q15056,Q14108,Q8N183,O14773,Q9Y4P3,Q8WWI5,Q9UHD9,O75503,Q8IV08,P49770 39 |
| Emg chronic denervation signs 0.6624892558054692 2.2308920250502986 0.0256882821288617 1.0 0.4123943998718599 14 O60313,Q969X5,Q13510,Q9NZJ7,O43681,P07602 6 |
| Abnormality of lysosomal metabolism 0.936535890331482 2.2308222212853264 0.025692907399307 1.0 0.4123943998718599 4 Q13510,P07602 2 |
| Poor head control 0.4399539204434018 2.2302974208455892 0.0257277042961228 1.0 0.4123943998718599 74 Q9P0J0,Q10713,P21912,O75306,Q9NQT5,Q9NZJ7,Q86Y39,Q5XKP0,P00374,Q9Y6M9,Q9NPL8,Q9H3H5,P17900,Q96CU9,P07602,Q9Y5P6,O43676,P13073,Q8N183,P03886,O96000 21 |
| Cerebellar atrophy 0.3886255981739916 2.229057935094884 0.0258100502632576 1.0 0.4123943998718599 136 Q969N2,Q10713,Q9BVA1,Q6DKK2,P07437,Q9NQT5,Q9NVI7,Q7LG56,Q9NW15,P46977,Q5XKP0,P04350,Q8NHS3,Q8NI60,Q9H6U8,Q96CU9,O43292,O60313,Q9H6K4,Q9H9P8,Q9Y5Y5,Q9BT22,P51572,P51649,Q14108,P13073,O14773,Q8WWI5,O75503,Q8IV08 30 |
| Decreased number of peripheral myelinated nerve fibers 0.6373338505552518 2.226221062518785 0.0259993778213412 1.0 0.4123943998718599 16 P50570,Q9NR77,O15269,Q7LG56 4 |
| Depletion of mitochondrial dna in muscle tissue 0.8411499309697538 2.21637255975139 0.0266659973786602 1.0 0.4123943998718599 6 Q9UBX3 1 |
| Abnormal gallbladder morphology 0.5377989046637562 2.2162221138322113 0.0266762940985489 1.0 0.4123943998718599 29 Q96A33,Q9Y4P3,P04062,Q9NZJ7,P21964,P22830,O43681,P07602 8 |
| Abnormal larynx morphology 0.5444685185888121 2.2094396178577367 0.0271440779562943 1.0 0.4123943998718599 27 Q9UHX1,Q9NZJ7,Q13510,P21964,P07602 5 |
| Dermal atrophy 0.5591100713334223 2.207822740807658 0.0272566321747631 1.0 0.4123943998718599 24 Q03001,P53701,Q8NCH0,O75844 4 |
| Emg neuropathic changes 0.5581313109972956 2.200711213264199 0.0277564744853213 1.0 0.4123943998718599 24 O14773,O60313,Q969X5,Q9NR77,Q9NZJ7,Q13510,O43681,P07602 8 |
| Ventricular preexcitation 0.8251150104085903 2.199184895165066 0.0278647779280678 1.0 0.4123943998718599 7 P13473,P00846,P03886,P00403,P10253 5 |
| Abnormal social behavior 0.4403729054833524 2.1973106848117987 0.0279982650809254 1.0 0.4123943998718599 68 Q9P0J0,Q9UHX1,O75306,Q9NZJ7,Q86Y39,Q5XKP0,O43681,Q9Y6M9,Q96CU9,Q15067,P07602,Q2TAA5,Q15125,Q8NB90,Q15056,O43676,Q8N183,Q9Y4P3,P03886,O96000,Q15907 21 |
| Resting tremor 0.5998571373486642 2.19722626054653 0.0280042909947586 1.0 0.4123943998718599 18 Q9H6K4,Q7LG56,P07602,P04062 4 |
| Global brain atrophy 0.5661450762045674 2.18271749416509 0.0290566208063152 1.0 0.4142596324964206 22 Q969N2,Q9UHX1,Q9H3H5,O43819,Q9H9P8,Q8NB90,Q9H6U8,Q9NZJ7,P35637,P07602 10 |
| Optic neuropathy 0.5556290693161013 2.182504694898342 0.0290723051401804 1.0 0.4142596324964206 24 Q9P0J0,Q9Y6M9,Q8N183,O75306,P00846,P03886,O96000,Q96CU9,Q86Y39,O43676 10 |
| Impaired proprioception 0.5085224582773896 2.1791966900033826 0.0293170597275851 1.0 0.4142596324964206 39 O14773,O43819,Q9H6K4,Q9NR77,P00846,Q8IV08,P54802,Q9Y619,P07196 9 |
| Areflexia of lower limbs 0.5645572538515329 2.1714747897716644 0.0298953008137226 1.0 0.4142596324964206 22 Q9H6K4,Q9NR77,Q7LG56,P07196,P50570,Q15067 6 |
| Left ventricular systolic dysfunction 0.781982118190494 2.1691233615012036 0.0300733195243145 1.0 0.4142596324964206 8 O75844 1 |
| Abnormal larynx physiology 0.6430175382572462 2.1668028085850386 0.0302498932097892 1.0 0.4142596324964206 15 Q68CQ7,Q13510,Q15165 3 |
| Abnormal nervous system electrophysiology 0.4130475264322883 2.1653990308157187 0.0303571402157996 1.0 0.4142596324964206 184 Q969N2,Q9BQE5,O95202,Q13885,Q7LG56,Q9NZJ7,O43681,Q8NHS3,P50897,Q96A33,Q96C86,Q9H3H5,Q9Y619,P07196,Q99720,Q9NQZ5,Q15067,P07602,Q2TAA5,O43175,O43292,O60313,Q15125,Q9Y5Y5,Q8NB90,Q9Y5P6,Q9UBX3,Q05086,P21964,P50570,O75381,Q14108,P13073,P40855,O14773,Q8WWI5,Q9NR77,P50542,P03886,O15269,O75503,P00403,Q9Y2B2 43 |
| Difficulty walking 0.4316376767423707 2.16481421211812 0.030401915990027 1.0 0.4142596324964206 78 Q13510,Q9NZJ7,O43681,Q9H3H5,Q7RTS9,P35637,Q99720,Q15067,P07602,O43292,P00846,Q9Y5P6,P50570,Q6PML9,O14773,Q9NR77,Q12768,Q15907,Q8TD16,Q9BUK6 20 |
| Limb ataxia 0.5418791585548554 2.163295782584308 0.0305184372637834 1.0 0.4142596324964206 26 Q10713,O14773,Q9BUK6,P04062,Q9NR77,Q8IV08,Q9NW15,Q14108 8 |
| Decreased activity of mitochondrial complex iv 0.5940765803546472 2.1593183115560364 0.0308254804679231 1.0 0.4145478206419037 18 Q9Y584,Q70HW3,Q9Y2R0 3 |
| Abnormality of the extraocular muscles 0.9173943996042498 2.15329722185634 0.0312953269949636 1.0 0.4158321609905511 4 Q9BVA1 1 |
| Laryngomalacia 0.6399217685089471 2.1483590228745997 0.0316852453966673 1.0 0.4167617924179209 15 P21964,Q9NZJ7,P07602 3 |
| Abnormal auditory evoked potentials 0.7772223580267834 2.1470289913411604 0.0317909736410448 1.0 0.4167617924179209 8 P07602,Q9NZJ7,O60313,P07196 4 |
| Abnormality of the vasculature of the eye 0.4308234435497739 2.146940613421932 0.0317980097754815 1.0 0.4167617924179209 77 P21912,O75306,Q96DF8,P38435,Q9NW15,Q13510,Q9NZJ7,Q9NZ08,P17900,Q96S66,P04066,P50851,Q96HR9,P07602,O14662,P00846,P10619,Q15056,Q14739,P16278,P21964,Q9Y4P3,P03886,O43826 24 |
| Retinopathy 0.532543387857716 2.146221183306065 0.0318553362953404 1.0 0.4167617924179209 28 Q9NZ08,P51648,O43819,P07437,O95202,P00846,P40939,Q8NHS3 8 |
| Constriction of peripheral visual field 0.5703757249642764 2.144458070334059 0.0319962016237806 1.0 0.4167617924179209 20 P40855,O60313,Q9Y5Y5,P00846,Q9H061,O75381 6 |
| Abnormal pyramidal sign 0.3772902599616182 2.1426053543367036 0.0321448008624221 1.0 0.4171144255394682 120 Q9P0J0,Q969N2,Q6DKK2,P21912,Q7LG56,Q9NZJ7,O43681,Q8NI60,Q9NZ08,P51648,P17900,Q9Y619,P07196,P04066,P35637,Q99720,Q15067,P07602,O60313,Q9H6K4,Q9H9P8,O75027,P00846,Q9Y5P6,O14773,Q8WWI5,Q9NR77,P40939 28 |
| Airway obstruction 0.6235712978089194 2.141873196545432 0.0322036872659148 1.0 0.4171144255394682 16 P21964,P09601,O75844 3 |
| Abnormality of prothrombin 0.6461057903749661 2.13573570801009 0.0327009621297629 1.0 0.4217687764783154 14 P49257,P38435,Q9BV10,Q5XKP0,P40939 5 |
| Abnormal tongue physiology 0.5902003504388011 2.1338073456343984 0.0328585543597914 1.0 0.4217687764783154 18 Q16637,Q9BQT8,Q9NQT5,O95831,Q13510,P04350,P10253 7 |
| Saccadic smooth pursuit 0.8220291210107945 2.133031497324505 0.0329221424725516 1.0 0.4217687764783154 6 Q10713,O14773 2 |
| Retinal dystrophy 0.4380297926003946 2.1318433001676365 0.0330197306808353 1.0 0.4217687764783154 56 P40855,Q10713,P53701,Q9H3H5,Q9Y5Y5,P38435,P00846,Q9NQT5,O75381,P50542,P03886,Q8NAT1,Q15067,Q8NHS3 14 |
| Abnormal delivery 0.5537344598259818 2.130486064887079 0.0331315050742047 1.0 0.4217687764783154 23 O60313,Q969X5,Q9Y487,Q9Y619,O75844,P50570 6 |
| Mania 0.6216688674626449 2.130149517077147 0.0331592713431803 1.0 0.4217687764783154 16 P21964,P00403,Q7LG56,P03886 4 |
| Neoplasm of the gallbladder 0.9110543402378276 2.127487713772729 0.0333795810792447 1.0 0.4217687764783154 4 Q9NZJ7,P07602 2 |
| Biliary tract neoplasm 0.9110543402378276 2.127487713772729 0.0333795810792447 1.0 0.4217687764783154 4 Q9NZJ7,P07602 2 |
| Abnormal renal cortex morphology 0.4517156442875719 2.123459443313722 0.0337153705725112 1.0 0.4228696700417543 53 O43826,P16930,P00846,P03886,Q6PGP7,O95470,P00813,P00403,Q14108 9 |
| Papule 0.5716367853759984 2.122010102558997 0.0338368896875971 1.0 0.4228696700417543 19 P16615,P38435,P21912,O75844 4 |
| Zonular cataract 0.6511464907544261 2.120385241537573 0.0339735702874806 1.0 0.4234333935560925 13 Q9H6K4,O76024,P08670 3 |
| Abnormality of the intrinsic pathway 0.6503805149894157 2.1159986041366623 0.0343449262894697 1.0 0.424524435038033 13 P38435,Q9BV10,Q9Y487,Q9H3H5 4 |
| Ankle clonus 0.693229292485941 2.107558554571313 0.0350691917561734 1.0 0.424524435038033 11 Q9NW15,Q9NZJ7,P07602 3 |
| Neck muscle weakness 0.5861881301637624 2.107324167464712 0.0350894898739297 1.0 0.424524435038033 18 Q9Y5P6,Q7LG56,Q9NZJ7,P35637,Q99720,P07602 6 |
| Central apnea 0.7685892425387792 2.1068142752913688 0.0351336816014471 1.0 0.424524435038033 8 Q10713,Q9NZJ7,P07602 3 |
| Ascites 0.5339723275360484 2.1036145226529284 0.0354120860935924 1.0 0.424524435038033 26 O15118,P04062,P16930,Q9H6U8,Q9NSD9,P08236,Q13510,Q14739,Q14108,P61916 10 |
| Orthostatic hypotension 0.6476833664887816 2.100534894575345 0.0356818143711064 1.0 0.424524435038033 13 Q9NZJ7,P07602,P04062 3 |
| Exercise intolerance 0.5018541257034922 2.09992058368529 0.0357358277384041 1.0 0.424524435038033 38 P13473,Q9Y5P6,P03886,Q9Y2R0,P23786,P40939,Q7LG56,Q53H12,P00403,Q9H2D1,Q8NI60 11 |
| Abnormal circulating fatty acid concentration 0.5638772976750387 2.0994150285838113 0.0357803310352133 1.0 0.424524435038033 20 P40855,Q9Y5Y5,P23786,P40939,O75880,O75381 6 |
| Abnormal sensory nerve conduction velocity 0.8024795925576327 2.098945394583848 0.0358217145896535 1.0 0.424524435038033 7 Q9NR77,Q7LG56 2 |
| Fatigable weakness of respiratory muscles 0.6313550607873617 2.0971181409432957 0.035983118478023 1.0 0.424524435038033 15 Q7LG56,Q68CQ7,Q15165 3 |
| Abnormal cardiac ventricular function 0.5539624669759059 2.096096405549322 0.0360736398152321 1.0 0.424524435038033 22 P21912,P03886,Q7LG56,O75844,P00403 5 |
| Abnormal circulating copper concentration 0.8126581433352378 2.091907844209646 0.0364467602580242 1.0 0.424524435038033 6 Q15904,Q9Y487,O43819 3 |
| Abnormality of the tarsal bones 0.5378495430635944 2.0913277720985395 0.0364986919164056 1.0 0.424524435038033 25 O43175,Q9UHX1,Q15125,Q15058,Q969X5,Q7RTS9,O75844,P16435,P40939 9 |
| Tetraplegia tetraparesis 0.465181270778759 2.086037671225696 0.036975210825529 1.0 0.424524435038033 49 Q13423,Q9H9P8,Q7RTS9,P00846,P17900,Q9UBX3,Q9NZJ7,O43681,P07602 9 |
| Abnormal size of the clitoris 0.5829628514673213 2.08597836378366 0.0369805829783154 1.0 0.424524435038033 18 P40855,P53701,Q9Y5Y5,Q9Y619,P16435,O75381 6 |
| Disproportionate short stature 0.5314496440600324 2.084491512426367 0.0371154814673093 1.0 0.424524435038033 26 O75718,Q9UHX1,Q7LGA3,Q15125,Q15392,Q7RTS9,O00116,Q9H6U8,Q9BV10,Q14739,P16278 11 |
| Eeg with spike wave complexes 0.6141475031685409 2.0836468590796264 0.0371923013014523 1.0 0.424524435038033 16 Q9NQZ5,Q9Y2B2,Q14108,O75503 4 |
| Decreased absent ankle reflexes 0.6445480594380417 2.0825247910367177 0.0372945608601142 1.0 0.424524435038033 13 O60313,O95140,Q9H6K4,Q7LG56,P07196 5 |
| High frequency sensorineural hearing impairment 0.9000011721930129 2.0823370699259156 0.0373116921527594 1.0 0.424524435038033 4 Q13510 1 |
| Posterior embryotoxon 0.5516310963063348 2.0794251609156125 0.0375782898787333 1.0 0.424524435038033 22 P40855,P53701,Q7LGA3,Q9Y4P3,Q96DF8,Q9Y5Y5,P50542,P21964,O75381 9 |
| Capillary hemangioma 0.7975872583602084 2.077133860856278 0.0377892061334732 1.0 0.424524435038033 7 Q7LGA3,Q9UHX1 2 |
| Proximal tubulopathy 0.5354435854117616 2.0733440150723235 0.0381402751766724 1.0 0.424524435038033 25 Q9Y6M9,Q8N183,P00403,O75306,P03886,O96000,Q7LG56,Q96CU9,Q86Y39,O43676 10 |
| Nasogastric tube feeding in infancy 0.725948011914129 2.0726876309111977 0.0382013596450836 1.0 0.424524435038033 9 Q9NZJ7,Q9UHX1,P07602 3 |
| Osteoarthritis 0.7256422298551254 2.0711805112204233 0.0383419301504222 1.0 0.424524435038033 9 Q14108,O75844 2 |
| Hypoplastic vertebral bodies 0.8075999205404882 2.069634574048237 0.0384865778123599 1.0 0.424524435038033 6 Q6NUQ1,Q14739,Q8TAA9,P16278 4 |
| Abnormal circulating citrulline concentration 0.8327394107430175 2.065159903011701 0.038907873032983 1.0 0.424524435038033 5 P00846,P03886 2 |
| Diarrhea 0.4255473237390213 2.0627053048418142 0.0391406356021382 1.0 0.424524435038033 74 Q969N2,Q13423,Q7LG56,Q13510,P00813,Q96A33,Q08J23,Q9H6U8,P15586,P54802,P50851,Q13277,Q14566,Q9BT22,Q15904,P42892,P50416,O43826,P03886,Q6PGP7,P00403,P40939 22 |
| Abnormal visual electrophysiology 0.4662484785551763 2.0584104667109333 0.0395507478459524 1.0 0.424524435038033 48 O14773,O60313,P00846,O75503,P40939,Q53H12,Q9NZJ7,P50897,O43681,Q15067,P07602 11 |
| Abnormality of visual evoked potentials 0.5528088983301047 2.05400333986956 0.0399753684574231 1.0 0.424524435038033 21 O75503,Q9NZJ7,O43681,Q15067,P07602 5 |
| Abnormal enchondral ossification 0.517019890582146 2.0538160796788487 0.0399934960485282 1.0 0.424524435038033 29 P40855,Q15125,Q7RTS9,P38435,O95202,Q9Y5Y5,O00116,P50542,P08236,Q9Y619,Q14739,O75381,Q9UG56 13 |
| Abdominal distention 0.5377084438544929 2.0510362631930428 0.0402634154170489 1.0 0.424524435038033 24 P04062,Q7RTS9,Q7LG56,Q9NZJ7,O43681,P07602 6 |
| Heparan sulfate excretion in urine 0.8917838600634619 2.0486443894569435 0.0404969007022364 1.0 0.424524435038033 4 P54802,P15586 2 |
| Nuclear cataract 0.8021281288299409 2.045480701642761 0.0408074898905705 1.0 0.4249861109324289 6 O76024,P08670 2 |
| Increased bone mineral density 0.5315424978182026 2.044110421225887 0.0409426398718135 1.0 0.4252993019421158 25 O14662,Q9Y4P3,Q15125,P04062,Q15392,Q15056,P54802,Q13126,Q14108 9 |
| Death in infancy 0.4289270848072336 2.041338424131608 0.0412172003180881 1.0 0.4263721124627287 61 P40855,Q9BUB7,O75718,P04062,O43819,Q13277,Q9Y5Y5,P50542,Q9BT22,Q15904,Q12768,Q9NZJ7,Q6NUK1,P16278,P50570,O75381,Q15067,P07602 18 |
| Brushfield spots 0.8896742470805168 2.0399773594800483 0.041352580783976 1.0 0.4268177088060388 4 P40855,Q9Y5Y5,O75381 3 |
| Progressive sensorineural hearing impairment 0.680147062630257 2.0381924481425187 0.0415306904507775 1.0 0.4277013644641318 11 O76024,P00403,P03886,O60443 4 |
| Hyperthyroidism 0.6585744827006613 2.0366222583250795 0.0416879104987371 1.0 0.4283664403248007 12 P21964,Q7LG56 2 |
| Inverted nipples 0.7000479993586994 2.03473188938113 0.0418778576416793 1.0 0.4284141896794812 10 Q2TAA5,Q969N2,Q9H3H5,Q9H6U8,Q9BV10,Q15067 6 |
| Abnormal cellular phenotype 0.4074468867409592 2.032149137121671 0.0421385602262252 1.0 0.4300667981134815 190 Q9P0J0,P21912,P04062,Q96DF8,Q9Y2R0,Q7LG56,Q13510,P09601,Q9NZJ7,Q86Y39,P00813,Q9BV10,Q70HW3,P23786,P15586,Q7KZN9,Q96CU9,Q9Y584,P07602,Q9BUB7,P00846,Q15904,Q9UBX3,O75844,O75880,O43676,P21964,Q14108,P13073,O14773,P50542,P03886,O75503,Q6PGP7,P00403,P40939 36 |
| Abnormality of the clitoris 0.549604303996204 2.0312916630082993 0.0422254165967821 1.0 0.4300667981134815 21 P40855,P53701,Q9Y5Y5,Q9Y619,P16435,O75381 6 |
| Rhizomelia 0.6280294811443677 2.0295340337804646 0.0424039261344599 1.0 0.4309357240565779 14 O75718,Q15392,Q15125,Q7RTS9,Q9H6U8,Q9BV10,Q14739 7 |
| Memory impairment 0.4935902096273205 2.028523810628411 0.0425068156887411 1.0 0.4310340257560067 38 P03886,Q7LG56,Q9NZJ7,P00403,P07602 5 |
| Abnormal mitochondria in muscle tissue 0.5435166904080042 2.0211635181168157 0.0432628408566797 1.0 0.4367846640202776 22 Q9Y6M9,Q8N183,P00403,O75306,P03886,O96000,Q96CU9,Q86Y39,O43676 9 |
| Progressive hearing impairment 0.6261365168064531 2.01833901053904 0.0435559665210583 1.0 0.4371755701892519 14 O76024,P00403,P03886,O60443 4 |
| Abnormality of pulmonary circulation 0.5088050738030848 2.0180582591721095 0.0435851941732796 1.0 0.4371755701892519 30 P00403,Q9NZ08,P04062,P03886,Q8IZA0,Q6NUK1,O75844,O43826,Q14108 9 |
| Abnormal nephron morphology 0.4262069634273077 2.016475024818786 0.0437503272555781 1.0 0.4377457451117285 63 Q9Y4P3,O43826,P16930,P00846,P03886,P23786,O95470,P00813,P00403,Q6PML9,Q14108 11 |
| Decreased activity of mitochondrial complex i 0.4893399589545074 2.012232271740871 0.0441954581033419 1.0 0.4398751617736153 39 O43676,Q70HW3,P03886,Q9UBX3,Q96CU9,Q9Y584 6 |
| Weakness of facial musculature 0.4265012812692259 2.011858540916358 0.0442348508271477 1.0 0.4398751617736153 60 P40855,O60313,Q9UHX1,Q9BUF5,Q9H3H5,Q9Y5Y5,P50542,Q9BQT8,Q7LG56,Q13510,P07196,P50570,O75381,Q9BUK6 14 |
| Impaired vibratory sensation 0.5077429047664773 2.009545545428902 0.0444793096017679 1.0 0.4413569261771994 30 O14773,O43819,Q9NR77,P00846,Q9Y619,P07196,O00165 7 |
| 3 methylglutaconic aciduria 0.6533319415633645 2.007523080003248 0.044693995640463 1.0 0.4425375499818012 12 Q9H6K4,Q5XKP0,Q9BUB7,Q9NVI7 4 |
| Abnormality of the umbilical cord 0.7813340206762898 2.0043021768461564 0.0450377008361657 1.0 0.4442154716456241 7 P16435,O43175,Q9Y2B2,O75844 4 |
| Hypersplenism 0.712058951543137 2.0039763946825873 0.0450725890992182 1.0 0.4442154716456241 9 P07602,Q14108,P04062 3 |
| Focal segmental glomerulosclerosis 0.5407827692917796 2.001451143712907 0.0453437938184979 1.0 0.4442154716456241 22 P00403,O95470,P03886,Q14108 4 |
| Nephrotic syndrome 0.5254928772742887 1.9985950419365297 0.0456521872799495 1.0 0.4457929830694478 25 P00813,O95470,Q8NCH0,Q14108 4 |
| Progressive psychomotor deterioration 0.7454579093292094 1.998175496365969 0.0456976371053023 1.0 0.4457929830694478 8 Q10713,P21912,Q9NZJ7,O43681,P07602 5 |
| Loss of speech 0.5531609065621469 1.9947379624444663 0.0460714666726485 1.0 0.4484936039880561 19 P17900,Q9NZJ7,P50897,Q6PML9,O43681,P07602 6 |
| Hypermethioninemia 0.8156024945344293 1.991118411179723 0.0464678708052799 1.0 0.4514021735370049 5 Q6PGP7 1 |
| Lissencephaly 0.443159482366931 1.9885491874866064 0.0467509846950824 1.0 0.4520191595869464 52 O43175,Q9BVA1,Q15392,Q15058,Q9HC21,Q9Y5P6,Q9Y487,P23786,Q86XL3,Q16625,Q96EK5,Q9Y320,Q9BV10,Q8NAT1,Q9UPN3 15 |
| Abnormality of glycolipid metabolism 0.7776871600876639 1.987882839206618 0.0468246491008104 1.0 0.4520191595869464 7 O43681,Q9NZJ7,P07602 3 |
| Weakness of muscles of respiration 0.4930198598133092 1.9866300292361667 0.0469634109371979 1.0 0.4520569845121616 36 Q969X5,Q7RTS9,Q7LG56,Q13510,P50570,Q15067,Q8TD16,P10253 8 |
| Abnormal placenta morphology 0.77644353650763 1.9822771915409625 0.0474482253463106 1.0 0.4551879543596275 7 Q6PGP7,O43175,O75844 3 |
| Abnormality of the amniotic fluid 0.4117658830841683 1.979913900280782 0.0477132042131969 1.0 0.4563080656916087 84 Q9UHX1,P04062,Q9NVI7,Q9BV10,Q6NUK1,Q7LGA3,Q969X5,Q70HW3,P23786,Q9H6U8,P16435,O43175,Q9BUB7,Q15125,Q9Y5P6,Q9BT22,O75844,P21964,P50570,Q15058,Q6PGP7,P40939,Q9Y2B2 23 |
| Bilateral tonic clonic seizure with generalized onset 0.6889639907623484 1.9777408384722672 0.0479579506605447 1.0 0.4569167491440463 10 Q13510,P04062 2 |
| Macrovesicular hepatic steatosis 0.7066664910231389 1.9771587429720443 0.0480236894645342 1.0 0.4569167491440463 9 Q5XKP0,Q7LG56 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.7404997362166093 1.974721801500227 0.0482997274329959 1.0 0.4569694592763019 8 Q9NZJ7,P07602,P04062 3 |
| Neuronal loss in central nervous system 0.6682362008719215 1.97456684018617 0.0483173252357789 1.0 0.4569694592763019 11 O15118,P04062,O43819,Q9NZJ7,P07602 5 |
| Abnormal pupillary function 0.7058560887293577 1.9731217189449115 0.0484816963528682 1.0 0.4569694592763019 9 Q9NR77,P07602 2 |
| Abnormality of the upper respiratory tract 0.3973596916132219 1.970864341572939 0.0487393947682472 1.0 0.4569694592763019 98 Q9UHX1,Q13510,Q9NZJ7,Q9BV10,Q15165,P00813,Q13432,Q03518,Q7RTS9,P15586,P54802,P04066,P35637,P16435,P07602,Q68CQ7,Q13277,P08236,Q14739,P21964,Q9UHD9 21 |
| Fluctuations in consciousness 0.7389313015444819 1.967290440376193 0.0491497365158069 1.0 0.4571673874610473 8 P04062,P00403,P03886,O43819 4 |
| Tetraparesis 0.4885875990993328 1.966107014588738 0.0492862503001003 1.0 0.4571673874610473 37 Q9H9P8,Q7RTS9,P00846,P17900,Q9UBX3,Q9NZJ7,P07602 7 |
| Abnormal nerve conduction velocity 0.4789866830343834 1.9656822932306 0.0493353214409737 1.0 0.4571673874610473 41 Q9NR77,O15269,Q7LG56,Q9NZJ7,Q9Y619,P07196,P50570,O43681,P07602 9 |
| Developmental regression 0.3633156697639185 1.963783284617408 0.0495552293487364 1.0 0.4578517438582269 124 Q969N2,P21912,O43819,Q13510,Q9NZJ7,O76024,O43681,Q8NI60,Q9NZ08,P17900,Q15067,P07602,Q9H9P8,Q9Y5Y5,P00846,P55795,O95470,Q15056,Q6PML9,O75381,P13073,P40855,O14773,Q9Y4P3,P50542,P03886,O75503,P49770 28 |
| Young adult onset 0.6445098189951073 1.9583430819026209 0.0501897687321115 1.0 0.4607954371226894 12 O15118,Q9H269,Q14566,P38435,P51649,Q9NZJ7,P07602 7 |
| Widened cerebral subarachnoid space 0.8697201960970289 1.95765762122881 0.0502702011371885 1.0 0.4607954371226894 4 P00403,P03886 2 |
| Infantile muscular hypotonia 0.4193272798159821 1.9567532055876835 0.0503764911431279 1.0 0.4607954371226894 68 Q2TAA5,Q9BVA1,O43819,Q9H3H5,Q9Y2B2,Q8NB90,Q9Y5P6,P00846,P17900,Q9Y487,P03886,Q05086,Q9NZJ7,Q13510,P07602,P10253 16 |
| Myoclonic seizure 0.4218475823640206 1.95634595411688 0.0504244141834084 1.0 0.4607954371226894 58 Q969N2,O43175,O43292,P21912,P04062,Q9H3H5,Q8NB90,P00846,P03886,P51649,O75503,Q13510,Q9NZJ7,Q9Y619,P16278,Q5XKP0,Q8NHS3,P07602 18 |
| Ectopic calcification 0.4213853620602936 1.9511914067275489 0.0510342808354959 1.0 0.462664348489821 58 O43175,P40855,O60313,Q15125,P04062,Q9Y5Y5,P38435,P50542,P03886,P23786,O00116,Q9NSD9,P08236,Q14739,P10644,O75844,P00403,O75381 18 |
| Urinary glycosaminoglycan excretion 0.7693838616779783 1.950393691003692 0.0511292132522271 1.0 0.462664348489821 7 P08236,P54802,P04066,P15586 4 |
| Aortic valve stenosis 0.7689852147195867 1.9485901574331357 0.0513443884909348 1.0 0.463704008558755 7 P04062,O75844,Q15125,P16278 4 |
| Peripheral axonal degeneration 0.4164879249386189 1.943885007076936 0.0519093196401103 1.0 0.4660751340113986 72 P00403,Q9UHD9,P00846,P03886,Q9BQT8,Q9NVI7,O15269,Q8IV08,Q7LG56,Q9NZJ7,P07196,O76024,P50570,Q15067,P07602 15 |
| Abnormal circulating methionine concentration 0.7773280352707039 1.935240203629056 0.0529608263321135 1.0 0.472762279844967 6 Q6PGP7 1 |
| Retinal coloboma 0.6803284701093177 1.9330921214038117 0.0532248504717636 1.0 0.4732917472719903 10 Q10713,Q9UHX1 2 |
| Elevated hepatic transaminase 0.3882290616097147 1.9292177925836105 0.0537038302306629 1.0 0.4766343780932542 103 Q8N511,Q10713,Q7LG56,Q13510,Q9BV10,Q5XKP0,P10253,Q9H3H5,P16930,P23786,Q9Y619,Q15067,Q2TAA5,Q9Y5Y5,Q15904,O75880,P22695,O43826,P40939 19 |
| Abnormal visual fixation 0.7751152742515377 1.925343853549755 0.0541863547640095 1.0 0.4784916852662557 6 Q13510 1 |
| Depression 0.3879244824359127 1.9250465192198585 0.0542235387282694 1.0 0.4784916852662557 103 Q96N66,Q6DKK2,P04062,Q7LG56,Q9NZJ7,Q15165,O76024,O43681,P50897,Q96C86,Q08J23,Q9UBB4,P10644,P35637,P07602,O14662,Q68CQ7,Q15056,P21964,Q9Y4P3,Q9UHD9,P03886,P00403,Q9BUK6 24 |
| Abnormal protein o linked glycosylation 0.8610757495893728 1.921807216849936 0.0546300199110021 1.0 0.4802456503202926 4 Q8N511 1 |
| Impaired social interactions 0.4484235327721115 1.9196874266674664 0.0548973933705727 1.0 0.481680354735348 49 Q9P0J0,Q9Y6M9,Q2TAA5,O43676,Q8N183,Q9UHX1,O75306,Q8NB90,P03886,O96000,Q96CU9,Q86Y39,Q5XKP0,Q15067,Q15907 15 |
| Dilated cardiomyopathy 0.4679762930985789 1.915959741866858 0.0553702201812973 1.0 0.4830790530534319 43 P00403,P53701,P13473,O75306,O43819,P00846,P03886,P23786,Q9BQP7,P42167,Q7LG56,Q13472,O95817,P16278,Q9H9S5,P40939,P42166 17 |
| Focal t2 hyperintense brainstem lesion 0.5413676991174914 1.912572524177578 0.0558027998998853 1.0 0.4859362462091711 19 Q9Y6M9,Q8N183,O75306,P03886,O96000,Q96CU9,Q86Y39,O43676 8 |
| Paresthesia 0.501650336441006 1.9048442346898071 0.0568003219172286 1.0 0.4886601598975711 28 O14662,Q9NZ08,P06280,O95140,Q9H6K4,Q9NR77,Q7LG56,O15460,P54802,P07196,P49327 11 |
| Emg abnormality 0.4085311135620603 1.903969858213676 0.0569141098714174 1.0 0.4886601598975711 80 O43819,Q9Y606,Q7LG56,Q9NW15,Q13510,Q9NZJ7,O43681,Q8NI60,Q9H3H5,Q969X5,P42167,P50402,P07196,P07602,O60313,P46976,Q16637,Q9Y5P6,P50570,O14773,P13473,O95140,Q9NR77,O15269,P42166,Q9BUK6 26 |
| Decerebrate rigidity 0.8561770129071918 1.9014418512612223 0.0572441621512713 1.0 0.4886601598975711 4 O43681,Q9NZJ7,P07602 3 |
| Epispadias 0.7940153880530272 1.8970771233613877 0.0578177600043281 1.0 0.4886601598975711 5 P53701 1 |
| Neck flexor weakness 0.7937688456653953 1.8959982257967671 0.0579602791324351 1.0 0.4886601598975711 5 Q99720,Q7LG56,P35637 3 |
| Abnormal macular morphology 0.5002397059784572 1.893676841376318 0.0582679170838968 1.0 0.4886601598975711 28 P51648,P04062,Q9NW15,Q13510,P50897 5 |
| Abnormality of the gallbladder 0.4821671915253058 1.8936180471591837 0.0582757262784485 1.0 0.4886601598975711 36 P40855,Q96A33,Q9Y4P3,P04062,O95202,Q9NZJ7,P04066,P21964,P22830,O43681,P07602 11 |
| Polyhydramnios 0.4528516020407558 1.8924855332348032 0.0584263193634195 1.0 0.4886601598975711 47 O43175,Q15125,P04062,Q70HW3,Q9NVI7,Q9H6U8,Q6PGP7,Q9BV10,O75844,P21964,P50570 11 |
| Undetectable electroretinogram 0.8532411498757038 1.88921984452151 0.0588623767275944 1.0 0.4886601598975711 4 P50897 1 |
| Abnormality of coagulation 0.4151788074852362 1.888785577891802 0.0589205660425289 1.0 0.4886601598975711 62 P40855,P49257,O43826,Q9H3H5,P16930,Q9Y5Y5,P38435,P51571,P50542,Q9Y487,P40939,Q4KMQ2,Q9BV10,Q9Y619,Q5XKP0,O75381 16 |
| Positional foot deformity 0.3886137854695622 1.884859088443714 0.059448864861644 1.0 0.4899793714097976 100 Q8TD16,Q9UHX1,Q8TAA9,Q96DF8,O95202,Q9Y487,Q9NVI7,Q9BV10,Q8NI60,Q96A33,Q969X5,Q7RTS9,Q6NUQ1,Q03001,Q9Y619,P07196,P16435,Q15125,P08236,Q8NCH0,P21964,Q15392,Q9NR77,P50542,Q15907 25 |
| Left ventricular hypertrophy 0.5053017987849058 1.8839637720544624 0.0595698760100187 1.0 0.4899793714097976 26 P06280,P21912,O75208,P03886,Q7LG56,Q6NUK1,O75880,P00403,P40939,P10253 10 |
| Abnormality of epiphysis morphology 0.4153219326230537 1.8833420806033312 0.0596540241170611 1.0 0.4899793714097976 58 P38435,O95202,O00116,Q7LGA3,Q6NUQ1,Q7RTS9,Q9Y619,P10644,P16435,Q9UG56,Q7Z4L5,Q15125,Q9Y5Y5,P08236,Q14739,P16278,O75381,P40855,P50542,Q9Y2B2 20 |
| Poor eye contact 0.4696329875494484 1.880994554816739 0.0599726595605205 1.0 0.4916907407940551 41 Q9P0J0,Q9Y6M9,O43676,Q8N183,Q9UHX1,O75306,Q8NB90,P03886,O96000,Q96CU9,Q86Y39,Q5XKP0,Q15907 13 |
| Hypotension 0.5137532634443425 1.8723584546086949 0.0611570286854943 1.0 0.4990674060584221 24 Q9NZJ7,Q13423,P07602,P04062 4 |
| Retinal dysplasia 0.6853754689967853 1.8705170070316948 0.0614120575361682 1.0 0.4990674060584221 9 P07437,P53701 2 |
| Sensory neuropathy 0.4791691474903971 1.867772325321954 0.0617938124947252 1.0 0.4999805343935069 36 P00846,P03886,O15269,Q03001,Q8IV08,P00403,P40939,Q15067 8 |
| Abnormality of skin pigmentation 0.3597189310167858 1.8673781196255317 0.0618488031299926 1.0 0.4999805343935069 128 Q13423,P21912,P04062,P07437,Q9NZJ7,P51648,Q7LGA3,Q03001,Q8IZA0,P07602,Q06136,Q05086,O75844,P21964,P16615,P53701,P03886,Q6PGP7,P00403 19 |
| Abnormal brainstem morphology 0.4025972670066367 1.866098875485533 0.062027533288582 1.0 0.5004880777457075 84 Q10713,Q9BVA1,O75306,O43819,P07437,Q13885,Q86Y39,Q9Y6M9,Q9NPL8,Q96CU9,O60313,Q9Y5P6,O95831,O43676,Q9UPN3,Q8N183,P03886,O96000,Q96EK5 19 |
| Cogwheel rigidity 0.7503115080493536 1.8637372825348852 0.0623586070358175 1.0 0.5004880777457075 7 P00846 1 |
| Enlarged kidney 0.717111958909526 1.8633083080779855 0.0624189019306977 1.0 0.5004880777457075 8 P16930,O43826,P23786 3 |
| Fatigable weakness of bulbar muscles 0.5927279054128273 1.862391857530364 0.062547876032923 1.0 0.5004880777457075 15 Q9UHD9,Q68CQ7,P35637,Q15165 4 |
| Emotional lability 0.442463047583374 1.8598715454797736 0.0629037019793294 1.0 0.5014922350300192 49 Q9P0J0,Q8N183,Q68CQ7,O75306,Q9UHD9,Q7KZN9,Q96CU9,Q9NZJ7,P35637,Q15165,P49770,O43681,P07602 13 |
| Glomerular sclerosis 0.484305098425389 1.858712295189726 0.0630679297542817 1.0 0.5014922350300192 32 P00403,P16930,P03886,O95470,O43826,Q14108 6 |
| Hypoplasia of the brainstem 0.4888738479545109 1.8570695349013204 0.0633012618647734 1.0 0.502066955167603 30 Q10713,P07437,Q9Y5P6,Q13885,Q96EK5,Q9Y320,Q9UPN3 7 |
| Abnormal talus morphology 0.5483753033869492 1.8538946317888456 0.0637542360726626 1.0 0.5035492180923756 18 Q9UHX1,Q15058,Q969X5,O75844,P16435 5 |
| Abnormal metabolic brain imaging by mrs 0.5631572151569687 1.8534712397852349 0.0638148446803918 1.0 0.5035492180923756 17 P21912,O43819,P03886,Q9NZJ7,P00403,P07602 6 |
| Bilateral sensorineural hearing impairment 0.5197861161201768 1.848679108016244 0.0645041621658475 1.0 0.5041340885068654 22 P03886,Q9NZJ7,P00403,O43681,Q15067,P07602 6 |
| Unexplained fevers 0.7578191122970895 1.8476558538277956 0.0646521441359366 1.0 0.5041340885068654 6 P07602 1 |
| Hallucinations 0.4573609973670576 1.843939780425456 0.0651919168193124 1.0 0.5043667950537721 44 Q9BQE5,Q6DKK2,O60313,P04062,O75503,Q9NZJ7,P35637,O76024,P07602,O43681,P50897,P21964 12 |
| Dysostosis multiplex 0.7130435784674725 1.8437977266818668 0.0652126241571255 1.0 0.5043667950537721 8 P10619,P15586,P08236,P54802,P04066 5 |
| Amyotrophic lateral sclerosis 0.5759487074176989 1.8437379913496263 0.0652213334653442 1.0 0.5043667950537721 16 Q9UHD9,Q68CQ7,Q99720,Q15165 4 |
| External ophthalmoplegia 0.5234288452951532 1.8436966147708884 0.0652273666613658 1.0 0.5043667950537721 21 P00403,P21912,P03886,Q7LG56,P50570 5 |
| Centrocecal scotoma 0.8417332513829141 1.841192953920429 0.0655932875508309 1.0 0.5043669420815963 4 P00846,P03886,O60313 3 |
| Areflexia 0.3945508070274638 1.838813592684609 0.0659426082920893 1.0 0.5043669420815963 91 O43819,Q7LG56,Q13510,P10253,P05023,Q9H3H5,Q969X5,Q03001,P07196,Q15067,O60313,Q9H6K4,Q9BT22,P50570,Q9NR77,P50542,O15269,Q9BQT8,P40939,Q8TD16 20 |
| Congenital contracture 0.4623933690365911 1.8386108021556404 0.0659724513112418 1.0 0.5043669420815963 42 Q96A33,Q15392,Q15058,P04062,Q969X5,Q8NCH0,O75844,P50570,Q8TD16 9 |
| Inability to walk 0.4003438121682601 1.8379471744219 0.066070189779676 1.0 0.5043669420815963 84 P21912,Q9NVI7,Q7LG56,Q13510,Q96C86,Q9H3H5,Q7RTS9,Q96CU9,O14949,P07196,P35637,Q99720,O43292,Q8NB90,P00846,Q9NR77,O15269,O75503,Q9BUK6 19 |
| Open mouth 0.4860287979701579 1.8338757857710424 0.0666724347050657 1.0 0.507131479713281 30 Q969N2,Q10713,P04062,Q96DF8,Q96PZ0,Q86XL3,Q03001,P04350,Q13045 9 |
| Abnormal myocardium morphology 0.3861692013161875 1.8338137372864365 0.0666816478515732 1.0 0.507131479713281 175 Q9P0J0,Q969N2,Q13423,P21912,O75306,P04062,O43819,Q9NVI7,Q7LG56,Q86Y39,O76024,Q5XKP0,Q9H061,P10253,Q9Y6M9,Q9NZ08,Q9NPL8,P16930,P23786,P15586,P42167,Q7KZN9,Q96CU9,P54802,Q99797,P50402,Q96IX5,Q9BUB7,P06280,O60313,Q9Y5Y5,P00846,Q9Y5P6,Q9BT22,P08236,Q15056,P16278,O43676,O75381,Q14108,P40855,Q8N183,P53701,Q9Y4P3,P50416,P13473,P50542,P03886,O96000,Q53H12,P00403,P40939 52 |
| Motor neuron atrophy 0.5173294575107494 1.8306463317648207 0.0671533483595825 1.0 0.5090886425799949 22 Q68CQ7,Q9UHD9,Q13510,Q15165,Q99720 5 |
| Polar cataract 0.8392027865042978 1.8306072536057936 0.0671591851154405 1.0 0.5090886425799949 4 Q7LGA3,P08670 2 |
| Status epilepticus with prominent motor symptoms 0.8387406578392995 1.8286730678783 0.06744859939607 1.0 0.5096116398814182 4 Q13510 1 |
| Morphological abnormality of the pyramidal tract 0.5165855168228131 1.825179075738694 0.0679740103057313 1.0 0.5100852067630938 22 Q9Y4P3,Q9H9P8,P00846,Q9UBB4,Q12768,Q15056,Q9Y619,P35637,Q13045 9 |
| Lacticaciduria 0.7524993927221719 1.8236448761449715 0.0682057775089413 1.0 0.5100852067630938 6 P00846,P03886,Q9BQT8 3 |
| Paroxysmal involuntary eye movements 0.5204680527970039 1.822245854148994 0.0684176898347954 1.0 0.5100852067630938 21 Q9Y6M9,Q8N183,O75306,P03886,O96000,Q96CU9,Q86Y39,O43676 8 |
| Decreased number of large peripheral myelinated nerve fibers 0.7406709771938257 1.8196515036767524 0.0688120930267002 1.0 0.5100852067630938 7 Q7LG56,O15269 2 |
| Basal ganglia calcification 0.7405538766841827 1.8191148588999495 0.0688939085890927 1.0 0.5100852067630938 7 P00403,P03886 2 |
| Abnormality of skull ossification 0.5991211011581314 1.8174764130459704 0.0691441967297787 1.0 0.5100852067630938 13 O75718,Q9H6U8,Q6NUK1,P54802,Q14739,O75844 6 |
| Fatigable weakness of swallowing muscles 0.5990664287579608 1.81715285844236 0.06919371096976 1.0 0.5100852067630938 13 Q9UHD9,Q68CQ7,Q15165 3 |
| Color vision defect 0.5852988729062472 1.816565073668796 0.0692837354178377 1.0 0.5100852067630938 15 Q9H6K4,Q9H061,Q13432 3 |
| Retinal degeneration 0.4090960450385753 1.815693744607379 0.0694173641644835 1.0 0.5100852067630938 60 Q10713,O14773,P51648,P68371,Q7LGA3,P04062,O75503,Q9NW15,Q13510,P50897,Q9UG56 11 |
| Talipes equinovarus 0.3999567963199778 1.8151757625811384 0.0694969031705772 1.0 0.5100852067630938 82 Q8TAA9,O95202,Q9Y487,Q9BV10,Q8NI60,Q96A33,Q969X5,Q7RTS9,Q6NUQ1,Q03001,Q9Y619,P16435,Q15125,P08236,Q8NCH0,P21964,Q15392,Q9NR77,P50542,Q15907,Q8TD16 21 |
| Abnormal conjunctiva morphology 0.5011288145815336 1.8130752274921575 0.0698202193759041 1.0 0.5116461083901436 25 O14662,Q9NZ08,P21912,P10619,Q9NW15,Q13510,P04066,Q14739,P50851 9 |
| Dysphagia 0.3618890558356029 1.8109230986000588 0.0701527564710273 1.0 0.5132597108120445 137 Q9UHX1,P21912,Q9BUF5,P04062,Q7LG56,Q13510,Q9NZJ7,O76024,P04350,P15586,Q8IZA0,Q99720,Q15067,P07602,O60313,Q9Y5Y5,P00846,Q05086,Q14108,Q9UHD9,Q9NR77,P03886 22 |
| Sensory ataxia 0.7741039008469617 1.809598158046896 0.0703581257900634 1.0 0.5132597108120445 5 Q9NR77 1 |
| Increased intracranial pressure 0.541524959128866 1.8072478829651344 0.0707236380844194 1.0 0.5132597108120445 18 Q9NZ08,Q9NZJ7,P21912,P07602 4 |
| Mitral valve calcification 0.8333008925232089 1.8058834581235128 0.0709365454822745 1.0 0.5132597108120445 4 O75844 1 |
| Cardiac valve calcification 0.8333008925232089 1.8058834581235128 0.0709365454822745 1.0 0.5132597108120445 4 O75844 1 |
| Supranuclear gaze palsy 0.5260129832465417 1.8045242758033415 0.0711491570517308 1.0 0.5132597108120445 19 Q969N2,O15118,P04062,Q9NZJ7,P35637,Q99720,P07602 7 |
| Abnormal light and dark adapted electroretinogram 0.7373706291823559 1.80451630512231 0.0711504054131748 1.0 0.5132597108120445 7 P00846,P50897 2 |
| Abnormal full field electroretinogram 0.7373706291823559 1.80451630512231 0.0711504054131748 1.0 0.5132597108120445 7 P00846,P50897 2 |
| Progressive visual loss 0.5091477833197018 1.8029329955021505 0.0713987383187433 1.0 0.5134490917354108 23 O14773,P00846,P03886,O75503,P50897 5 |
| Limb tremor 0.7360280248976744 1.7983530174190363 0.0721210830416863 1.0 0.5162351207194388 7 Q9NR77,P04350 2 |
| Disproportionate short limb short stature 0.512794761362629 1.7972742043449208 0.0722920992908235 1.0 0.5166594545916048 22 O75718,Q7LGA3,Q15125,Q15392,Q7RTS9,O00116,Q9H6U8,Q9BV10,Q14739 9 |
| Nyctalopia 0.4733095228256173 1.7890974951327268 0.0735991155129214 1.0 0.5226660726640204 34 P40855,Q10713,Q13432,Q9H3H5,Q9Y5Y5,P38435,P50542,P40939,O75381 9 |
| Tremor 0.3762857269378897 1.7878568896640368 0.0737990996952611 1.0 0.5226660726640204 163 Q10713,P21912,P04062,Q7LG56,Q9NW15,Q13510,Q9NZJ7,O76024,O43681,P04350,Q9H3H5,P07196,Q99720,Q9NQZ5,P07602,Q9BUB7,O60313,Q9H6K4,P00846,Q05086,Q14108,O14773,Q9Y4P3,Q9NR77,P03886,O75503,Q6P4A7,Q9BUK6 28 |
| Abnormal left ventricle morphology 0.4758065002499921 1.7877846513786626 0.073810758098963 1.0 0.5226660726640204 32 P00403,P06280,P21912,O75431,O75208,P03886,Q9H6U8,Q7LG56,Q6NUK1,O75880,Q9H9S5,P40939,P10253 13 |
| Oculomotor apraxia 0.4926114698300772 1.7851376838647444 0.0742389868272683 1.0 0.5230787323896741 26 Q10713,O14773,P04062,Q9NQT5,Q6PML9,Q9Y2B2 6 |
| Chronic diarrhea 0.5382148505565398 1.7846289399107804 0.074321524044121 1.0 0.5230787323896741 18 P00813,Q96A33,Q13510,Q9BT22 4 |
| Abnormal lower motor neuron morphology 0.7325817003037812 1.782516236216125 0.0746650859246864 1.0 0.5233811628544757 7 Q99720,Q13510 2 |
| Abnormal large intestine physiology 0.5147777102492141 1.7808899261841065 0.0749304346474184 1.0 0.5233811628544757 21 Q8TAA9,Q9NZJ7,P21964,O43681,P07602 5 |
| Abnormal placental size 0.8254751424406217 1.773027626158491 0.0762241292348879 1.0 0.5245956927892079 4 Q6PGP7,O75844 2 |
| Prominent nasolabial fold 0.7411533657683906 1.772254797655504 0.0763522710309552 1.0 0.5245956927892079 6 Q8NCH0 1 |
| Abnormality of the nasolabial region 0.7411533657683906 1.772254797655504 0.0763522710309552 1.0 0.5245956927892079 6 Q8NCH0 1 |
| Hypoparathyroidism 0.5849317953194255 1.7712452208198248 0.0765199323921652 1.0 0.5249676073907599 14 Q96DF8,P03886,P21964,P00403,P40939 5 |
| Abnormal renal tubule morphology 0.49071356072512 1.7702748879994152 0.0766813592701864 1.0 0.5252957115042108 26 Q9Y4P3,O75306,O43819,P00846,P03886,P23786,Q15056,O43826,Q6PML9 9 |
| Stroke like episode 0.729334374531613 1.767572630692386 0.0771323768887566 1.0 0.5254897676927793 7 O76024,P00403,P03886 3 |
| Mucosal telangiectasiae 0.6972005572404728 1.7674625194002829 0.0771508006473591 1.0 0.5254897676927793 8 Q14739,Q8IZA0,P10619,P21912 4 |
| Progressive external ophthalmoplegia 0.584124811254572 1.766341983094983 0.0773384921495732 1.0 0.5259017466170979 14 P00403,Q7LG56,P03886 3 |
| Abnormal brainstem mri signal intensity 0.5084165848960204 1.7649491358049492 0.0775723145930589 1.0 0.5262630037952389 22 Q9Y6M9,Q8N183,Q9NPL8,O75306,P03886,O96000,Q96CU9,Q86Y39,O43676 9 |
| Primary adrenal insufficiency 0.5838497261458279 1.7646700162911289 0.077619240611668 1.0 0.5262630037952389 14 P40855,Q13423,Q9Y5Y5,P16435,O75381 5 |
| Fasciculations 0.4651066952643189 1.7613032518697471 0.0781870899628967 1.0 0.5275825264875146 37 Q8TD16,P06280,O43819,Q969X5,Q16637,Q9NQT5,Q9BQT8,Q9NW15,Q9NZJ7,Q13510,P35637,P07196,P07602 13 |
| Abnormal blood transition element cation concentration 0.609592326437617 1.7611209396127088 0.0782179356069308 1.0 0.5275825264875146 12 Q6PGP7,Q15904,Q9Y487,O43819 4 |
| Generalized hyperkeratosis 0.8225704631982393 1.7608118998762754 0.0782702450628103 1.0 0.5275825264875146 4 P21912,O75844 2 |
| Recurrent aspiration pneumonia 0.7377324322088288 1.7567132570615345 0.0789666967222992 1.0 0.52935873184656 6 Q13510,P04062 2 |
| Shoulder girdle muscle weakness 0.5755668653469445 1.7562065695649836 0.0790531433663697 1.0 0.52935873184656 15 Q8TD16,P46976,Q7LG56,Q9NZJ7,P07602 5 |
| Optic atrophy 0.3893827698089286 1.7561430081344287 0.0790639931002419 1.0 0.52935873184656 190 Q9P0J0,O75306,O43819,O95202,Q9NVI7,Q9NZJ7,Q86Y39,Q8NAT1,O76024,Q5XKP0,Q9H061,O43681,P04350,Q8NHS3,P50897,Q9H3H5,Q7KZN9,Q96CU9,Q96HR9,Q15067,P07602,O43292,O60313,Q15125,Q9H6K4,Q9H9P8,Q9Y5Y5,P00846,Q9Y5P6,P51572,P16278,P21964,O75381,Q9H490,P40855,Q8N183,Q8WWI5,P49770,P50542,P03886,Q12768,P00403,Q15907 43 |
| Nephropathy 0.5153253848175354 1.755804732049549 0.0791217561285464 1.0 0.52935873184656 20 P00403,Q10713,P03886,Q14108 4 |
| Abnormality of peripheral nerves 0.445149767827865 1.7556157693801746 0.0791540377762833 1.0 0.52935873184656 45 Q9NR77,O15269,Q7LG56,Q9NZJ7,Q9Y619,P07196,P50570,O43681,P07602 9 |
| Flat occiput 0.5754092627887596 1.7552261031193854 0.0792206406656184 1.0 0.52935873184656 15 P40855,Q9BUB7,Q9Y5Y5,Q05086,O75381 5 |
| Abnormality of temperature regulation 0.3753963436688683 1.7521411304339296 0.0797495433422359 1.0 0.5311237478695139 103 Q2TAA5,Q5XKP0,Q9NR77,P00846,P03886,P23786,Q03001,Q05086,Q13510,Q9NZJ7,P00813,P00403,P07602 13 |
| Upper limb postural tremor 0.8194754877850688 1.747783819378422 0.0805014681751936 1.0 0.5332933937565837 4 P04350 1 |
| Progressive cerebellar ataxia 0.4592116111369291 1.7442660789158586 0.0811127036580219 1.0 0.5365738794201622 39 Q9P0J0,Q8N183,O14773,O75306,Q8WWI5,Q9Y487,Q7KZN9,Q9NW15,Q96CU9,Q9Y619,P35637,O76024,Q8NI60,Q9BUK6 14 |
| Abnormality of the distal phalanges of the toes 0.8180293031297294 1.741691991024229 0.0815623546845616 1.0 0.538016757553198 4 O75844 1 |
| Hypothermia 0.6433567793420465 1.739539843592084 0.0819398501594537 1.0 0.538016757553198 10 P00846,P03886 2 |
| Postaxial foot polydactyly 0.722589663277941 1.736469528936638 0.0824808476418694 1.0 0.538016757553198 7 Q7Z4L5,Q10713,Q14739 3 |
| Abnormality of the 5th toe 0.722589663277941 1.736469528936638 0.0824808476418694 1.0 0.538016757553198 7 Q7Z4L5,Q10713,Q14739 3 |
| Brain imaging abnormality 0.4622306827777619 1.735942868004105 0.0825739369782707 1.0 0.538016757553198 37 P21912,Q9H3H5,Q969X5,P03886,Q9BT22,Q05086,Q9NZJ7,Q9BV10,P00403,P07602 10 |
| Abnormal peripheral nervous system morphology 0.3709663986092176 1.7327388410483209 0.0831420975796781 1.0 0.5386396992002357 160 Q6DKK2,Q9UHX1,P21912,Q9BUF5,Q9NVI7,Q7LG56,Q13510,Q9NZJ7,Q9BV10,O76024,O43681,Q9H3H5,Q9Y619,P07196,Q99720,Q15067,P07602,O60313,Q9Y5Y5,P00846,P50570,O75381,P40855,Q9UHD9,Q9NR77,P50542,P03886,O15269,Q9BQT8,Q8IV08,P00403 31 |
| Recurrent viral infections 0.5843682625493097 1.7297814709556991 0.083669326153789 1.0 0.5395913028383831 13 P00813 1 |
| Abnormal spermatogenesis 0.6223184614395871 1.7251722584242752 0.0844964335497109 1.0 0.5434096088092675 11 Q13423,P04062 2 |
| Paralysis 0.4217157983029164 1.723089315378453 0.084872374700506 1.0 0.5450692508543609 51 Q68CQ7,P21912,P04062,P16930,Q9UHD9,Q9NR77,P17900,P50402,Q15165,P10253 10 |
| Cerebellar vermis atrophy 0.6026916663037116 1.721670452418938 0.0851292327709307 1.0 0.5459605718901303 12 Q10713,P07437 2 |
| Slow decrease in visual acuity 0.6872618227760334 1.719291731535951 0.0855612647856329 1.0 0.547971313530148 8 P00846,P03886,O75306 3 |
| Abnormality of the tongue 0.3867511252255236 1.715180566084764 0.0863121267680802 1.0 0.5520155936038768 89 Q10713,P21912,Q9NQT5,Q13510,Q6NUK1,P04350,P10253,Q96A33,Q7LGA3,P04066,P07196,Q9Y5Y5,Q9Y5P6,Q05086,Q15056,O75844,O75381,P40855,Q9Y4P3,P50542,Q9BQT8 21 |
| Retinal telangiectasia 0.7283951501005548 1.714185262695182 0.0864947066130121 1.0 0.5524192311858678 6 P00846 1 |
| Abnormal systemic blood pressure 0.3865463608412027 1.7125292387240294 0.0867991810535251 1.0 0.5531063934271323 89 Q10713,P16435,Q13423,Q9Y4P3,O43826,P04062,P21912,Q8TAA9,P03886,Q9NZJ7,O75844,P21964,P00403,O43681,P42892,P07602 16 |
| Decreased circulating iga level 0.6538325632667381 1.7103640399588704 0.0871985763598603 1.0 0.5531063934271323 9 Q969N2,Q96J02,Q15904,P50851,P00813 5 |
| Microcytic anemia 0.6534973552334378 1.7086487067248264 0.0875160407036756 1.0 0.5531063934271323 9 Q9UBX3,P22830,Q9BQT8 3 |
| Ventricular hypertrophy 0.4507972685815429 1.7083659734983143 0.0875684568027663 1.0 0.5531063934271323 41 P21912,P03886,P23786,Q7LG56,Q9BV10,O75844,O75880,P00403,P40939 9 |
| Leber optic atrophy 0.9671375921375926 1.7072378817391465 0.087777846650062 1.0 0.5531063934271323 2 P00846 1 |
| Retinal arterial tortuosity 0.9671375921375926 1.7072378817391465 0.087777846650062 1.0 0.5531063934271323 2 P00846 1 |
| Low plasma citrulline 0.9671375921375926 1.7072378817391465 0.087777846650062 1.0 0.5531063934271323 2 P00846 1 |
| Multiple glomerular cysts 0.9671375921375926 1.7072378817391465 0.087777846650062 1.0 0.5531063934271323 2 P00846 1 |
| Hypoglycemic seizures 0.6844940816458129 1.7058391633439662 0.0880380292268796 1.0 0.5531063934271323 8 O43826,P53985,Q13423 3 |
| Abnormality of the supraorbital ridges 0.5003598761110866 1.7051990224968407 0.0881573122741774 1.0 0.5531063934271323 22 P40855,Q9Y5Y5,P50542,Q6PGP7,P16435,O75381 6 |
| Hyperlipidemia 0.4669129027683674 1.7044076636789285 0.088304953173341 1.0 0.5532819830264623 31 Q969N2,P50416,P49257,P23786,P50402,O95470,O75844,O43826,P22830,Q13045 10 |
| Dry skin 0.481592344249736 1.6985502103530692 0.0894039645123927 1.0 0.5567849036732528 26 Q2TAA5,Q06136,P51648,Q6PGP7,P00813 5 |
| Hypopigmentation of the skin 0.441872129535303 1.696587930480846 0.0897745932488436 1.0 0.5567849036732528 44 P53701,P21912,Q6PGP7,Q8IZA0,Q05086,Q9NZJ7,P21964,P07602 8 |
| Lipoma 0.7244528866732478 1.69618305530881 0.0898512184172712 1.0 0.5567849036732528 6 P21912,Q9BUK6 2 |
| Abnormal thoracic spine morphology 0.4811473140451623 1.695038348872632 0.0900681461824379 1.0 0.5567849036732528 26 P51648,Q9UHX1,P04062,Q7RTS9,P08236,O75844 6 |
| Mixed demyelinating and axonal polyneuropathy 0.8061945893530172 1.6917418730558866 0.0906952008346748 1.0 0.5593272279545485 4 P00403,P03886 2 |
| Arthrogryposis multiplex congenita 0.4604998057246884 1.6916049185477722 0.0907213280635621 1.0 0.5593272279545485 35 Q15392,Q15058,P04062,Q969X5,Q8NCH0,O75844,Q8TD16 7 |
| Chronic fatigue 0.7228624236332507 1.6889125705066756 0.0912361859253718 1.0 0.5603008313702774 6 Q13423,P07602 2 |
| Abnormality of the shoulder girdle musculature 0.4586181948686165 1.688878267484919 0.0912427608178674 1.0 0.5603008313702774 36 Q8TD16,O60313,Q9H3H5,Q9Y487,Q7LG56,P50402,Q9NZJ7,P07196,P07602 9 |
| Mandibular aplasia 0.7454923512068435 1.6827307081898335 0.0924272342356844 1.0 0.5660709021268939 5 P53701 1 |
| Recurrent hand flapping 0.8031626119759374 1.6789176143960247 0.093168101130824 1.0 0.5688266275302798 4 Q05086 1 |
| Cerebral hypomyelination 0.5501902197310644 1.6785169029881588 0.0932462334922041 1.0 0.5688266275302798 16 O43175,Q8NB90,P49770,P04350,Q9Y2B2 5 |
| Respiratory insufficiency 0.3797343172317886 1.6739145557202877 0.0941473930997596 1.0 0.5691664334142347 182 O75306,O43819,Q9NQT5,Q9NSD9,Q7LG56,Q13510,Q9NZJ7,Q86Y39,Q15165,O76024,Q5XKP0,Q6NUK1,P61916,P10253,Q9Y6M9,Q9NPL8,Q9H3H5,Q969X5,Q7RTS9,Q08J23,Q70HW3,P23786,Q03001,Q96CU9,P50402,Q9Y619,P35637,Q15067,P07602,Q7Z4L5,Q9BUB7,P06280,Q68CQ7,O75208,Q16637,Q9Y5Y5,Q9Y5P6,Q9BT22,Q14739,O43676,P50570,O75381,P40855,Q8N183,P53701,P13473,Q9UHD9,Q9NR77,P50542,P03886,O96000,Q53H12,P40939,Q8TD16 54 |
| Progressive spasticity 0.5494754053672377 1.6738938313531615 0.0941514667570235 1.0 0.5691664334142347 16 O43681,Q9NZJ7,P17900,P07602 4 |
| Abnormal circulating iga level 0.5687756817196438 1.6726288044033066 0.0944003927794363 1.0 0.5691664334142347 14 Q969N2,Q96J02,Q15904,Q9BV10,P50851,P00813,P49327 7 |
| Cytochrome c oxidase negative muscle fibers 0.6126957696978246 1.6721095447773433 0.0945027228260142 1.0 0.5691664334142347 11 Q9Y2R0 1 |
| Generalized onset motor seizure 0.3966816797896729 1.6717409040109328 0.094575424493196 1.0 0.5691664334142347 56 Q969N2,O43175,P21912,P04062,Q9H3H5,Q8NB90,P00846,P03886,P51649,Q05086,Q13510,Q9NZJ7,Q9Y619,P16278,Q8NHS3,P07602 16 |
| Premature rupture of membranes 0.7189733269360146 1.6711159457548137 0.0946987783419133 1.0 0.5691664334142347 6 O75844 1 |
| Broad palm 0.7187129079667938 1.6699233352999654 0.0949345327599924 1.0 0.5691801532602144 6 Q7RTS9,Q14739,P10644 3 |
| Dyschromatopsia 0.6770247455497997 1.669453783594898 0.0950274823349666 1.0 0.5691801532602144 8 Q9H6K4,Q9H061 2 |
| Nemaline bodies 0.7994769245995365 1.663313884182504 0.096249620913156 1.0 0.57217376082146 4 O43676 1 |
| Aplasia hypoplasia involving the vertebral column 0.5478251969188193 1.6632134306146995 0.0962697201382127 1.0 0.57217376082146 16 Q8TAA9,Q6NUQ1,Q7RTS9,P08236,Q14739,P04066,P16278,P10644 8 |
| Malrotation of small bowel 0.7985932244739709 1.6595703239170785 0.0970009224785579 1.0 0.5750413660780154 4 Q8NCH0 1 |
| Abnormal urine protein level 0.3954088814129035 1.657256627223472 0.0974676022155824 1.0 0.5755530542810202 57 Q9Y4P3,O43826,P04062,P03886,O95470,P09601,P00403,Q14108 8 |
| Reduced tendon reflexes 0.3747395026236404 1.656763574077384 0.0975672841436912 1.0 0.5755530542810202 175 Q10713,Q8TAA9,P04062,Q9Y2B2,O43819,Q7LG56,Q13510,Q9NZJ7,Q8NAT1,O43681,P10253,P05023,Q9H3H5,Q969X5,Q03001,P50402,P54802,P07196,P35637,Q99720,Q15067,P07602,O14662,O60313,Q9H6K4,Q9Y5Y5,P00846,Q9Y5P6,Q9BT22,P50570,O75381,P40855,Q9NR77,P50542,P03886,O15269,Q9BQT8,P40939,Q8TD16,Q9BUK6 40 |
| Hyperesthesia 0.9548525798525812 1.656675396034603 0.0975851199299999 1.0 0.5755530542810202 2 P07602 1 |
| Bilateral tonic clonic seizure with focal onset 0.9548525798525812 1.656675396034603 0.0975851199299999 1.0 0.5755530542810202 2 P07602 1 |
| Generalized myoclonic seizure 0.4400951865444739 1.654251734454619 0.0980763752490292 1.0 0.5777135785369569 43 Q969N2,O43175,P21912,P04062,Q9H3H5,Q8NB90,P00846,P03886,P51649,Q13510,Q9NZJ7,Q9Y619,P16278,Q8NHS3,P07602 15 |
| Abnormality of facial musculature 0.389192750815176 1.651443825976974 0.0986479821363686 1.0 0.5801619849116448 78 P40855,P10253,Q9UHX1,O60313,P04062,Q9BUF5,Q9H3H5,Q9Y5Y5,P50542,Q9BQT8,Q7LG56,Q13510,P07196,P50570,O75381,Q15907,Q9BUK6 17 |
| Xerostomia 0.5585591600916813 1.6498581962134862 0.0989719425675441 1.0 0.5804609669719749 15 Q9UHD9,Q68CQ7,P35637,Q15165 4 |
| Hypointensity of cerebral white matter on mri 0.7031618299645053 1.6464019242507433 0.0996810371878829 1.0 0.5827119038644382 7 P07602 1 |
| Transposition of the great arteries 0.7134325222891635 1.6457166556838787 0.0998221082736341 1.0 0.5827997836581872 6 Q9Y2B2,O75844 2 |
| Hemiplegia hemiparesis 0.453447448922355 1.6434044193497814 0.1002992863712661 1.0 0.5841107055172983 36 Q9NZ08,Q9BVA1,O60313,Q9Y5P6,P03886,Q9NP80,Q7LG56,P00403 8 |
| Abnormality of the tonsils 0.6391161532514551 1.6348032381816149 0.1020903017410301 1.0 0.5923030806154624 9 P00813 1 |
| Erlenmeyer flask deformity of the femurs 0.9551459293394772 1.6325023786346866 0.1025736977994729 1.0 0.5940766796967506 3 P07602,P04062 2 |
| Azoospermia 0.6229965007407242 1.6313584210648198 0.1028147128555869 1.0 0.5940766796967506 10 Q13423 1 |
| Increased serum lactate 0.3512775618580844 1.6304262267222729 0.1030114453946187 1.0 0.5940766796967506 115 Q9P0J0,P21912,O43819,Q9NVI7,Q7LG56,Q86Y39,Q5XKP0,Q70HW3,Q7KZN9,Q96CU9,Q99797,O14949,Q9Y584,Q9BWD1,Q9BUB7,P00846,Q9NP80,Q9UBX3,O75880,P22695,P13073,P03886,Q53H12,P00403,Q6P4A7 25 |
| Pruritus 0.4862336530839206 1.6302986817674758 0.1030383860546699 1.0 0.5940766796967506 23 Q96A33,Q13277,P00813,P22830,P16615 5 |
| Episodic respiratory distress 0.9539702502459224 1.6279574582607454 0.1035339066059231 1.0 0.5954487364997368 3 P00846 1 |
| Abnormality of krebs cycle metabolism 0.7328949009722397 1.6264675263751565 0.1038502360565343 1.0 0.5965260764290866 5 P00846 1 |
| Abnormal brain lactate level by mrs 0.6217504334949351 1.6247027710026078 0.1042259066519233 1.0 0.5970890474409596 10 P00403,P03886,P21912,O43819 4 |
| Vegetative state 0.9529953917050684 1.624188289470022 0.1043356293971227 1.0 0.5970890474409596 3 Q9NZJ7,P07602 2 |
| Progressive peripheral neuropathy 0.9529953917050684 1.624188289470022 0.1043356293971227 1.0 0.5970890474409596 3 Q9NZJ7,P07602 2 |
| Distal peripheral sensory neuropathy 0.7322394392792642 1.6235337508677237 0.1044753544989052 1.0 0.5971496158256338 5 P00403,P03886 2 |
| Vascular tortuosity 0.9509260730743216 1.616185826001996 0.10605414235947 1.0 0.6017958990872008 3 P00846 1 |
| Abnormality of the glenoid fossa 0.9447174447174448 1.614913526940833 0.1063294224814539 1.0 0.6017958990872008 2 Q7RTS9 1 |
| Polymicrogyria 0.3856439598228958 1.6140618329084138 0.1065140150025332 1.0 0.6018055951716922 79 Q96N66,Q9NZ01,Q10713,Q9BVA1,P07437,Q9Y487,Q8NAT1,Q9H9S5,P37268,Q96C86,Q08J23,P23786,O43175,Q9Y5Y5,Q9Y5P6,Q16625,O75381,P40855,Q15392,P50542,Q01105,Q96EK5,Q9Y320,Q8TD16 24 |
| Hydrocephalus 0.3886166760310633 1.6069284119256184 0.1080700729669834 1.0 0.6079270284663401 71 Q10713,Q8TAA9,P04062,O95202,Q6NUK1,Q8NAT1,Q08J23,P23786,P10644,P16435,P07237,Q15125,Q9Y5P6,P08236,P21964,Q9H490,P40855,P53701,Q15392,Q12768 20 |
| Duplication involving bones of the feet 0.4908351753735135 1.6050601469564911 0.1084805686939032 1.0 0.6087550359716122 21 Q7Z4L5,Q10713,Q15125,O95202,Q14739,P21964 6 |
| Hypercholesterolemia 0.5629619244216022 1.6011952062137416 0.1093336902827741 1.0 0.6120568811955784 13 Q8N511,Q15904 2 |
| Limb girdle muscle weakness 0.4573276636465295 1.597011815309543 0.1102630735210594 1.0 0.6146178640849762 30 Q8TD16,O60313,Q9H3H5,Q7LG56,Q9NZJ7,Q13126,P07602 7 |
| Endocarditis 0.7258346744203726 1.594835008449384 0.1107491361702752 1.0 0.6153370995100333 5 Q9NZ08,P10644,P04062 3 |
| Cerebral white matter atrophy 0.4855349452716697 1.5943790195753722 0.1108511686617339 1.0 0.6153370995100333 22 Q2TAA5,O43175,O60313,Q9H9P8,Q9Y5Y5,O75503 6 |
| Atlantoaxial abnormality 0.7255545359954076 1.5935784594053288 0.1110304822697043 1.0 0.6155934652459388 5 Q8NCH0 1 |
| Abnormality of the musculature of the lower limbs 0.4654522870747073 1.591667820817794 0.111459362395158 1.0 0.6158650212946525 27 Q9NR77,Q9Y5P6,P00846,P50402,Q9NW15,Q8NAT1,P07196,P50570 8 |
| Temperature instability 0.6611166172356792 1.5915803533430124 0.1114790274272543 1.0 0.6158650212946525 8 Q9NZJ7,P07602 2 |
| Fatigue 0.3846569221417979 1.5890009754763943 0.112060172478986 1.0 0.6168645685033707 77 Q969N2,Q9NZ08,Q13423,Q68CQ7,P21912,P04062,O60313,Q9UHD9,Q70HW3,Q9NP80,Q7LG56,Q53H12,Q9NZJ7,Q14739,P35637,Q15165,P07602 17 |
| Arthritis 0.437819315806683 1.5878520589817031 0.1123197963489215 1.0 0.6170308176926955 41 Q9NZ08,P06280,P04062,Q96HY6,O15460,Q13510,Q14739,O75844,P50851,O43826,P10321,P21964,P14174,Q14108,P49327 15 |
| Equinovarus deformity 0.7241777673917801 1.5874014750965462 0.1124217454366534 1.0 0.6170308176926955 5 Q9NR77,P40939 2 |
| Punctate cataract 0.7815248674342214 1.587096916258542 0.1124906962186294 1.0 0.6170308176926955 4 Q9H6K4,P08670 2 |
| Flat face 0.4647282896239374 1.5858341480575795 0.1127769371520619 1.0 0.6171367543090348 27 P40855,Q9BUB7,Q15125,Q9Y5Y5,P07437,P50542,Q9Y487,P08236,O75381 9 |
| Prolonged partial thromboplastin time 0.6991927085047088 1.5802101871698349 0.114058739587874 1.0 0.6200514498918983 6 P38435,Q9BV10 2 |
| Abnormality of fundus pigmentation 0.7792047618894207 1.577222219298239 0.1147444021200239 1.0 0.6215761514675567 4 P38435 1 |
| Abnormal elasticity of skin 0.3881489931749728 1.5769891676144172 0.1147980175937053 1.0 0.6215761514675567 62 Q9UHX1,Q9Y4P3,P04062,P07437,P38435,Q9Y487,Q15904,Q8NCH0,O75844,Q13126 10 |
| Neurodegeneration 0.4546326135107297 1.574510542338829 0.1153694662193731 1.0 0.6230289540484315 30 Q68CQ7,Q6DKK2,Q9UHD9,P17900,P08236,Q15165,Q8NHS3 7 |
| Cardiac conduction abnormality 0.4493836850809142 1.572998947412815 0.1157190619404437 1.0 0.6230289540484315 33 P06280,P21912,O75306,O43819,P00846,P03886,P23786,Q7LG56,P50402,P00403,Q9H490 11 |
| Cardiovascular calcification 0.65715369235988 1.5721036973544322 0.1159265041805257 1.0 0.6230289540484315 8 O75844 1 |
| Chronic pulmonary obstruction 0.6569440705451 1.571072634445263 0.1161657782264335 1.0 0.6230289540484315 8 P09601 1 |
| Corneal ulceration 0.7204588837538884 1.570703709604248 0.116251487135067 1.0 0.6230289540484315 5 O75844 1 |
| Negativism 0.933968058968063 1.5705854298289217 0.116278976501686 1.0 0.6230289540484315 2 Q9BQE5 1 |
| Social and occupational deterioration 0.933968058968063 1.5705854298289217 0.116278976501686 1.0 0.6230289540484315 2 Q9BQE5 1 |
| Abnormal pericardium morphology 0.5941860449072134 1.5693112873495008 0.1165754235129283 1.0 0.6235487940405368 11 Q9NZ08,P04062,Q9H6U8,O15460,P14174,Q14108 6 |
| Movement abnormality of the tongue 0.7770757450048501 1.5681562029271996 0.1168446827602505 1.0 0.623891239126326 4 P04350 1 |
| Abnormality of femur morphology 0.3866070612921568 1.5663701032317994 0.1172619978409965 1.0 0.6253973218186483 66 Q9UHX1,P04062,O00116,Q9Y487,Q9BV10,Q9NZJ7,Q96A33,Q7LGA3,Q6NUQ1,Q7RTS9,P04066,Q9Y619,P16435,P07602,P06280,O75718,O95831,Q14739,O75844,P16278,P50542 21 |
| Abnormality of fontanelles 0.4101817783353476 1.5647433995580846 0.1176430879282153 1.0 0.6266088620015624 50 P40855,Q15125,Q9Y5Y5,P50542,Q9BT22,Q9Y487,Q9H6U8,Q6NUK1,Q9Y619,Q8NCH0,O75844,P16435,O75381 13 |
| Type i transferrin isoform profile 0.5929468074865814 1.5623958663195303 0.1181947603055133 1.0 0.6274771201523464 11 Q2TAA5,Q9BT22,Q9H3H5 3 |
| Leukodystrophy 0.3868117016651196 1.5589018078166286 0.119019622401256 1.0 0.631131575669046 59 Q9P0J0,Q9Y6M9,Q8N183,P21912,O75306,O43819,Q9Y5Y5,P03886,O96000,Q7KZN9,Q96CU9,Q9NZJ7,Q86Y39,O43676,O43681,P04350,Q15067,P07602 18 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6541683061541818 1.5574117619581034 0.1193727553715182 1.0 0.6318853084861841 8 P00846,P03886,Q9Y619 3 |
| Submucous cleft of soft and hard palate 0.4724372986852825 1.556556007565839 0.119575935454109 1.0 0.6318853084861841 24 O43175,Q7LGA3,Q15392,Q96DF8,Q9Y619,Q8NAT1,O75844 7 |
| Sepsis 0.4913270947156636 1.5561636915710668 0.1196691727945511 1.0 0.6318853084861841 19 P00813,P42892,Q9BT22 3 |
| Abnormality of the fetal cardiovascular system 0.7742223543819544 1.5559988075800633 0.1197083759156352 1.0 0.6318853084861841 4 P16435,Q9Y2B2 2 |
| Limited wrist movement 0.7162010438463096 1.5515637997537612 0.1207666305895049 1.0 0.6319723693623983 5 Q9H6K4 1 |
| Occipital encephalocele 0.7161881780325443 1.5515059299009133 0.1207804873744713 1.0 0.6319723693623983 5 Q10713,Q9Y5P6 2 |
| Impaired vibration sensation in the lower limbs 0.5545890440172362 1.550487908587321 0.1210244534351212 1.0 0.6319723693623983 13 Q9NR77,P00846,O43819 3 |
| Echolalia 0.6822825155126899 1.5488644299649323 0.1214143132050988 1.0 0.6319723693623983 7 P53701 1 |
| Abnormality of salivation 0.4290141843478459 1.5485398279870557 0.1214923803477541 1.0 0.6319723693623983 43 Q68CQ7,Q9BVA1,Q9UHD9,Q9NR77,P55795,P15586,Q05086,P35637,Q15165 9 |
| Demyelinating peripheral neuropathy 0.517279848677219 1.547726793654583 0.1216880883276636 1.0 0.6319723693623983 17 Q9NR77,P00846,P03886,Q7LG56 4 |
| Abnormal sternal ossification 0.7719797916205882 1.5464386477533416 0.1219986664430128 1.0 0.6319723693623983 4 Q9Y619 1 |
| Abnormal speech prosody 0.6512824156746014 1.5431937551058836 0.1227837720607873 1.0 0.6319723693623983 8 P00846,P03886 2 |
| Limited extraocular movements 0.6810350499311218 1.543014244498229 0.1228273198080285 1.0 0.6319723693623983 7 Q9BVA1,O43819 2 |
| Abnormality of the phalanges of the toes 0.5416129395966162 1.542845237633715 0.1228683304621098 1.0 0.6319723693623983 15 Q7LGA3,O75844 2 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9269041769041796 1.541441982484255 0.1232092529785309 1.0 0.6327257706533147 2 O14773 1 |
| Abnormal saccadic eye movements 0.4699449699985927 1.5372148455779495 0.1242407060875512 1.0 0.6327257706533147 24 Q10713,O14773,P04062,Q8WWI5,Q8IV08,Q9NW15 6 |
| Abnormality of the posterior pituitary 0.679148310773848 1.5341614626226088 0.1249899357352901 1.0 0.6344165344017362 7 Q9UHX1 1 |
| Abnormality of facial soft tissue 0.343333562448002 1.531061580244493 0.1257541739934884 1.0 0.6371763617369854 116 Q9UHX1,P21912,Q9BUF5,P04062,Q7LG56,Q13510,P10253,Q9H3H5,P07196,P16435,O60313,Q9Y5Y5,O75844,P50570,O75381,P40855,Q9Y4P3,P50542,Q9BQT8,Q15907,Q9BUK6 21 |
| Scaphocephaly 0.7677320726075363 1.5283180252669848 0.1264335966593524 1.0 0.6391991770565858 4 Q969X5 1 |
| Heterogeneous 0.4331325211057895 1.5246524622948796 0.127345804630387 1.0 0.6407475523513706 40 Q9BQE5,Q9NR77,P00846,P03886,Q9Y619,O75844,P21964,P50570,P40939 9 |
| Thoracic kyphosis 0.5385459105976074 1.5233708066394491 0.1276659614729658 1.0 0.6412337111194706 15 Q7RTS9,P51648,Q9UHX1,P04062 4 |
| Bile duct proliferation 0.7665226088837821 1.5231556179767125 0.1277197768038565 1.0 0.6412337111194706 4 Q5XKP0 1 |
| Abnormal blood monovalent inorganic cation concentration 0.483036264431717 1.5206615787975208 0.1283447851059875 1.0 0.6422795306602668 20 Q6PML9,Q13423,Q9BV10 3 |
| Infantile axial hypotonia 0.6168140852344425 1.5193510146268476 0.1286741651253518 1.0 0.6424364134560965 9 Q9NZJ7,P17900,P07602 3 |
| Parkinsonism with favorable response to dopaminergic medication 0.6017071446176331 1.5171223837210153 0.1292357878479808 1.0 0.6424364134560965 10 P07602,P04062 2 |
| Biliary cirrhosis 0.6849795244612198 1.5145157816998371 0.1298950742318392 1.0 0.6424364134560965 6 Q14739,Q9UJW0,P09601 3 |
| Pathologic fracture 0.5364127617740373 1.5098075840447782 0.1310925293014933 1.0 0.6424364134560965 15 Q13126,Q14108,P04062 3 |
| Elevated serum acid phosphatase 0.9228948403441656 1.50759012003142 0.1316594629536736 1.0 0.6424364134560965 3 P07602 1 |
| Pain 0.3679449117250266 1.506569679617442 0.1319209940997283 1.0 0.6424364134560965 180 Q969N2,Q13423,P21912,Q8TAA9,P04062,Q7LG56,Q13510,Q9NZJ7,Q15165,Q15800,Q9NZ08,Q70HW3,P23786,Q9H6U8,P50402,P35637,P07602,O14662,Q68CQ7,O60313,Q9H6K4,Q14566,P00846,Q15056,O75844,P21964,P50570,P42892,Q14108,Q9Y4P3,Q9UHD9,Q9NR77,O15269,P40939,Q9BUK6 35 |
| Skeletal muscle hypertrophy 0.4140034911552397 1.506396053101211 0.1319655333072633 1.0 0.6424364134560965 47 Q10713,Q96A33,P21912,Q7LGA3,Q9Y4P3,Q9NR77,Q9Y5P6,Q05086,Q15056,Q8NAT1,P04066,P50570,P10253 13 |
| Large placenta 0.9224967411279552 1.5060457359641477 0.1320554332057586 1.0 0.6424364134560965 3 O75844 1 |
| Pericarditis 0.7057480935924503 1.504479713962253 0.1324578928251423 1.0 0.6424364134560965 5 P14174,Q9NZ08,O15460 3 |
| Abnormal heart rate variability 0.7619640895524314 1.5036872925812224 0.1326619026971887 1.0 0.6424364134560965 4 P07602 1 |
| Generalized clonic seizure 0.6825798721812215 1.5033958674870092 0.1327369916175786 1.0 0.6424364134560965 6 P07602 1 |
| Abnormal sternum morphology 0.3507134468395678 1.5030658607397966 0.1328220612595216 1.0 0.6424364134560965 109 Q969N2,Q9BUK6,Q9UHX1,P21912,P04062,P07437,O95202,Q9Y487,Q9NVI7,Q13510,Q96A33,Q7LGA3,Q7RTS9,P50402,Q9Y619,O75718,P55795,P08236,Q15056,Q8NCH0,Q14739,P16278,Q9Y4P3,Q9Y2B2 24 |
| Occipital meningocele 0.6819341034068525 1.5004020496089254 0.1335102889404273 1.0 0.6444170940089105 6 Q10713 1 |
| Venous insufficiency 0.6718139582160905 1.4996963071432394 0.1336930875944704 1.0 0.6444710174499789 7 P04062 1 |
| Migraine 0.4539390130462833 1.4985612517856954 0.1339874912687952 1.0 0.6444710174499789 27 O60313,P03886,Q7LG56,P00403,Q9NQZ5 5 |
| Focal t2 hyperintense basal ganglia lesion 0.4764682860387996 1.498208986049559 0.1340789616753632 1.0 0.6444710174499789 21 P00846,Q7KZN9,Q96CU9 3 |
| Ankylosis 0.7034513317471904 1.4941168777103662 0.1351450733446793 1.0 0.6469056098817775 5 O75844 1 |
| Infantile spasms 0.4411243852747852 1.493488026985009 0.1353094860384378 1.0 0.6470228163823543 32 Q9UBX3,P00846,Q13510 3 |
| Abnormality of exocrine pancreas physiology 0.5335675885465866 1.4916937481105208 0.1357794488241508 1.0 0.6477822781600147 15 P09601,Q9UHX1 2 |
| Happy demeanor 0.9185874829564388 1.490877862497692 0.1359935644484409 1.0 0.6477822781600147 3 Q15907 1 |
| Macrogyria 0.6697256480229755 1.489868452089833 0.1362588281177901 1.0 0.6478851738765071 7 O43175,Q15392,Q8NAT1 3 |
| Varicose veins 0.6794663030625872 1.4889560242168969 0.1364989492037662 1.0 0.6480196520720894 6 P04062 1 |
| Abnormal neuron morphology 0.4525458621547172 1.4872473529585666 0.1369494936729167 1.0 0.648601231949101 27 Q9UHD9,Q13510,Q68CQ7,Q15165 4 |
| Abnormally lax or hyperextensible skin 0.4176049042428982 1.4868960845009913 0.1370422585671002 1.0 0.648601231949101 45 Q9UHX1,Q9Y4P3,P04062,P07437,P38435,Q9Y487,Q15904,Q8NCH0 8 |
| Atrophic scars 0.6683425540127212 1.4833559759076216 0.1379798575142037 1.0 0.6513375521857191 7 Q03001 1 |
| Abnormal cns myelination 0.3423363911502503 1.483118260145842 0.1380429933265581 1.0 0.6513375521857191 139 Q9P0J0,P21912,O75306,O43819,Q9NZJ7,Q86Y39,O43681,P04350,P10253,Q9Y6M9,P51648,Q7LGA3,Q9H3H5,Q9H6U8,Q7KZN9,Q96CU9,P35637,Q9Y584,Q99720,Q15067,P07602,O43175,Q9H9P8,Q9Y5Y5,Q8NB90,P51572,P51649,O43676,Q9H490,P40855,Q8N183,P03886,O96000,P49770,Q9Y2B2 35 |
| Increased csf lactate 0.3879548957446502 1.4809870185077656 0.1386100327768102 1.0 0.6514348795789163 54 Q9P0J0,Q9Y6M9,P13073,P00403,Q8N183,O75306,O43819,Q9HC21,P00846,P03886,O96000,Q7KZN9,Q96CU9,Q86Y39,O43676,Q8NI60 16 |
| Cavernous hemangioma 0.9160222794543212 1.4809228035398576 0.1386271456543368 1.0 0.6514348795789163 3 P50570 1 |
| Central nervous system cyst 0.3838318820957225 1.4784328022806486 0.1392919709212359 1.0 0.6529492678655803 55 O43175,Q9UHX1,Q15125,P07437,O95202,Q9NQT5,Q9Y487,P23786,Q9Y5P6,P00846,Q8NAT1 11 |
| Abnormal pulmonary interstitial morphology 0.4400844095553067 1.4777728490362267 0.1394685879444954 1.0 0.6529492678655803 31 Q13432,P04062,Q13510,P09601,Q14108 5 |
| Absent septum pellucidum 0.4360939960470757 1.4776023436941534 0.1395142466806214 1.0 0.6529492678655803 35 Q96N66,Q9NZ01,O43175,P53701,Q15392,Q96C86,Q08J23,O95202,P51571,Q8NAT1,Q15910 11 |
| Deep palmar crease 0.6081727001264212 1.4743336457588727 0.1403917804260515 1.0 0.6555146363155802 9 P98175,O75431,Q9Y487,P61978,Q6NUK1 5 |
| Asthma 0.4798996395024994 1.473125079444478 0.1407173120700555 1.0 0.6555146363155802 19 P50542,Q08J23,Q9H6U8,P00813,P21964 5 |
| Ketotic hypoglycemia 0.9137946651813332 1.4722766655165629 0.1409461818949653 1.0 0.6555146363155802 3 Q13423 1 |
| Aortic valve calcification 0.913628778118024 1.4716327594674252 0.1411200741978635 1.0 0.6555146363155802 3 O75844 1 |
| Mitral stenosis 0.913628778118024 1.4716327594674252 0.1411200741978635 1.0 0.6555146363155802 3 O75844 1 |
| Calcific stippling 0.7544007419507104 1.4713499857600394 0.1411964917323351 1.0 0.6555146363155802 4 P50542,Q15125 2 |
| Upper airway obstruction 0.7536333562968521 1.46806664726607 0.1420861201949876 1.0 0.657006219781623 4 O75844 1 |
| Rickets 0.696528065188557 1.4628441972626829 0.1435100162214908 1.0 0.6623169117472618 5 P16930,O43175 2 |
| Inappropriate behavior 0.5047359343384498 1.4626488977530214 0.1435634759827666 1.0 0.6623169117472618 17 P17900,Q9H6U8,Q05086,Q9NZJ7,P07602 5 |
| Abnormal basal ganglia mri signal intensity 0.4412639546816795 1.4622806086532594 0.1436643301216487 1.0 0.6623169117472618 30 Q9P0J0,Q8N183,P00846,P03886,Q7KZN9,Q96CU9,P16278,Q8NI60 8 |
| Asymmetric septal hypertrophy 0.9072481572481592 1.4603287228273238 0.1441997517029345 1.0 0.6625053372913341 2 P54802 1 |
| Decreased circulating total igm 0.6051930805304955 1.458777211875799 0.144626436632502 1.0 0.6625053372913341 9 Q15904,Q969N2,P00813 3 |
| Insidious onset 0.6952928202247228 1.4572591788315563 0.1450448504565433 1.0 0.6625053372913341 5 Q9NR77,O60313,P04062 3 |
| Lower limb spasticity 0.3725615998761563 1.4562832313211456 0.1453143391200546 1.0 0.6625053372913341 80 Q9P0J0,Q6DKK2,P21912,P04062,Q9NZJ7,Q5XKP0,Q9H6U8,Q7KZN9,Q96CU9,Q9Y619,P35637,Q99720,P07602,O60313,Q9H6K4,Q9Y5Y5,P00846,Q8N183,Q12768 19 |
| Clonic seizure 0.6625576555212531 1.4560879560328226 0.1453683065494644 1.0 0.6625053372913341 7 P07602 1 |
| Increased circulating antibody level 0.5160388744588036 1.4554948795700664 0.1455323067532841 1.0 0.6625053372913341 16 P00813,Q14108 2 |
| Recurrent bacterial infections 0.4739848952945084 1.4538822107863076 0.1459789656022707 1.0 0.6625053372913341 20 P00813,Q8N5M9,O43826,Q15904 4 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.6945099794975995 1.453718843098171 0.1460242718108748 1.0 0.6625053372913341 5 Q7LGA3 1 |
| Abnormal palmar dermatoglyphics 0.3776874564914697 1.4532985374123064 0.1461408832260295 1.0 0.6625053372913341 57 P40855,Q9UHX1,Q9H3H5,Q9Y5Y5,P50542,O95202,Q9Y487,Q8NCH0,O75381,Q15907 10 |
| Peripheral hypermyelination 0.905098280098284 1.4514581537662656 0.146652326514725 1.0 0.6635542337679139 2 Q9NR77 1 |
| Velopharyngeal insufficiency 0.6713882152043822 1.4514332312495746 0.1466592618751747 1.0 0.6635542337679139 6 Q9BUF5 1 |
| Aplasia hypoplasia of the nipples 0.5029732875034474 1.4506477435937186 0.1468779735196375 1.0 0.6638941833380292 17 Q96A33,P07437,O95202,Q9H6U8,Q6NUK1,Q9Y2B2 6 |
| Abnormal pelvis bone morphology 0.9044840294840318 1.4489238334211951 0.1473588544595423 1.0 0.6654173271688708 2 Q7RTS9 1 |
| Pace of progression 0.3556462574626629 1.446087649244736 0.1481526194270508 1.0 0.6673253668753185 165 P27544,Q10713,Q9BUF5,P04062,Q7LG56,Q13510,Q5XKP0,P04350,Q8NHS3,P05023,Q9H3H5,P15586,P54802,P07196,Q99720,Q9NQZ5,O60313,Q9Y5Y5,O95470,P50570,Q14108,O14773,Q9UHD9,Q9NR77,Q8IV08,Q13126 26 |
| Cerebral dysmyelination 0.6699652587035962 1.4448151326474417 0.1485098193561311 1.0 0.6673253668753185 6 Q9NZJ7,P07602 2 |
| Abnormality of earlobe 0.4538862028147816 1.4437548277001588 0.1488079527384667 1.0 0.6673253668753185 25 P21964,Q15392,P53701,Q7LGA3 4 |
| Personality changes 0.5369562002095154 1.4429963078276091 0.1490215113146951 1.0 0.6673253668753185 13 P00403,P03886,P04062 3 |
| Hyporeflexia of upper limbs 0.9029484029484068 1.4425883144878184 0.1491364771130499 1.0 0.6673253668753185 2 Q9NR77 1 |
| Barrel shaped chest 0.6920331940541096 1.4425137096896536 0.1491575068348323 1.0 0.6673253668753185 5 Q7RTS9,P04066 2 |
| Abnormality of the ribs 0.3763380870581025 1.4404415370592365 0.1497425191429922 1.0 0.6673253668753185 64 Q9UHX1,Q8TAA9,O95202,Q9BV10,P00813,Q7RTS9,P15586,P54802,Q9Y619,P16435,Q7Z4L5,O75718,P07237,O95831,Q14739,P16278,O75844,P50570,Q12768 19 |
| Abnormal greater sciatic notch morphology 0.6687131639385911 1.4389896884981517 0.1501534443056424 1.0 0.6676373966667556 6 Q7RTS9,P08236,Q9H6U8 3 |
| Pulmonary infiltrates 0.6589297757310524 1.4389642211313565 0.1501606601499623 1.0 0.6676373966667556 7 Q13510,P04062 2 |
| Cranial asymmetry 0.6903301443705094 1.434805499681735 0.1513425302880771 1.0 0.6709567210470455 5 O95202 1 |
| Abnormality of the coagulation cascade 0.4167217346283427 1.4302243900079936 0.1526526274310069 1.0 0.6742115027431933 43 P49257,O43826,Q9H3H5,P38435,P51571,Q9Y487,Q4KMQ2,Q9BV10,Q9Y619,Q5XKP0,P40939 11 |
| Hyperventilation 0.6664505466401367 1.4284580351254232 0.1531600651314892 1.0 0.6742115027431933 6 P00846 1 |
| Tongue fasciculations 0.5520433016481346 1.4277239470532983 0.1533713306538073 1.0 0.6742115027431933 12 Q16637,Q9BQT8,Q9NQT5,O95831,Q13510 5 |
| Abnormal metatarsal morphology 0.445211333432127 1.427521302127893 0.1534296894900002 1.0 0.6742115027431933 27 Q15392,Q7RTS9,Q08J23,O95202,Q9NQ48,Q15910,P50542,P08236,Q8NAT1,P10644,P16435 11 |
| Specific learning disability 0.3747647864131754 1.4271516516327891 0.1535361870309843 1.0 0.6742115027431933 67 Q10713,Q9BVA1,P53701,Q9H6K4,P03886,Q9Y619,P21964,P00403,P04350 9 |
| Abnormal caudate nucleus morphology 0.585034349618142 1.426932157409032 0.1535994506400475 1.0 0.6742115027431933 10 P00846,Q9BVA1,O43819 3 |
| Fever 0.367984324183401 1.4261839040173798 0.1538152645360044 1.0 0.6742115027431933 84 Q9NR77,P00846,P03886,Q03001,Q13510,Q9NZJ7,P00813,P00403,P07602 9 |
| Rod cone dystrophy 0.4182705309581435 1.4237694278494035 0.154513228366987 1.0 0.6742115027431933 42 P40855,Q9H3H5,Q9Y5Y5,P00846,P38435,P50542,P03886,O75381,Q15067 9 |
| Pericardial effusion 0.665257597794794 1.4229029078565332 0.1547643031758776 1.0 0.6742115027431933 6 Q14108,P04062 2 |
| Abnormal morphology of the conjunctival vasculature 0.6553902660531812 1.4222411276870763 0.1549562630811751 1.0 0.6742115027431933 7 Q9NW15,P10619,P04066 3 |
| Hypoplastic nipples 0.5511010891396131 1.4221887742842103 0.1549714567360991 1.0 0.6742115027431933 12 P07437,Q96A33,Q6NUK1,Q9Y2B2 4 |
| Abnormal pharynx morphology 0.4201489260483607 1.4218437641715416 0.1550716115618453 1.0 0.6742115027431933 41 Q13432,Q03518,Q13277,Q7RTS9,P15586,P08236,Q13510,Q9BV10,P54802,P00813 10 |
| Abnormality of thyroid physiology 0.3702049496806393 1.4201787713412242 0.1555556422692883 1.0 0.6742115027431933 79 O76024,Q9BUK6,Q13423,Q9Y4P3,O43826,P03886,Q6PGP7,Q7LG56,O95470,P00813,P00403,P21964 12 |
| Abnormal adipose tissue morphology 0.3748743726334973 1.420108644729411 0.1555760539418225 1.0 0.6742115027431933 58 Q2TAA5,P21912,Q8TAA9,Q9H3H5,Q9Y487,Q9H6U8,P42167,P50402,Q9BV10,Q6NUK1,P04066,O75844,Q9BUK6 13 |
| Dysdiadochokinesis 0.5222503987533955 1.4193876981857083 0.155786016921269 1.0 0.6744892717639962 15 O75027,Q9BUK6,P04350,O75503 4 |
| Intestinal pseudo obstruction 0.597333611222828 1.4176637213500791 0.1562889666351972 1.0 0.6747714115043435 9 P03886 1 |
| Lymphopenia 0.4435661215439392 1.414087859216464 0.1573361073900709 1.0 0.6755080413850401 27 P00813,O95470,Q13432,Q6PGP7 4 |
| Dysesthesia 0.6632234788802873 1.413427041454184 0.1575301992793782 1.0 0.6757139531241607 6 Q8NCH0 1 |
| Symptomatic seizures 0.582416843547773 1.4127200821981354 0.1577380444140268 1.0 0.6759784220300835 10 O43826,P53985,P40939,Q13423 4 |
| Myopathy 0.3531376682835152 1.409452248000208 0.158701483944269 1.0 0.6760191057440738 101 P21912,Q7LG56,Q86Y39,O76024,Q9H3H5,Q969X5,P23786,P42167,P50402,P07196,O60313,P00846,Q9Y5P6,Q15056,Q8NCH0,P50570,O43676,Q9Y4P3,Q13126,P03886,Q53H12,P00403,P40939,Q9BUK6 24 |
| Psychotic mentation 0.7398004548499011 1.4088157496484357 0.1588896568363875 1.0 0.6760191057440738 4 P03886 1 |
| Microretrognathia 0.470967506266449 1.4078392942944715 0.1591786619871487 1.0 0.6760191057440738 19 Q9BUB7,Q8NCH0,Q9UHX1,Q15125 4 |
| Abnormal cranial nerve morphology 0.373031137128065 1.4062613375855093 0.1596465362169803 1.0 0.6760191057440738 67 P40855,P21912,Q9UHX1,Q9BUF5,Q9H3H5,Q9Y5Y5,P50542,Q7LG56,Q13510,P07196,P50570,O75381 12 |
| Corneal dystrophy 0.6833280684781844 1.403084804512098 0.1605915518694067 1.0 0.6761154681905747 5 Q53H12 1 |
| Limb dysmetria 0.7378764814092517 1.4005660012566057 0.161343893744283 1.0 0.677615045116771 4 Q7LG56 1 |
| Calcinosis 0.6824266078747853 1.3989978597439523 0.1618136248739303 1.0 0.6788911131433029 5 O75844 1 |
| Concentric hypertrophic cardiomyopathy 0.8948105701128242 1.3985643658300082 0.1619436583741009 1.0 0.6788911131433029 3 P03886 1 |
| Mitochondrial respiratory chain defects 0.6599317182255435 1.3980828487620216 0.1620881896432107 1.0 0.6788911131433029 6 P00846,P03886,O75306,Q4J6C6 4 |
| Profound global developmental delay 0.5185193678132979 1.395464486526622 0.1628758168420589 1.0 0.678962818346221 15 P40855,O60313,Q9Y5Y5,P50542,O75381 5 |
| Dilatation of the cerebral artery 0.5631518606631789 1.394985887619673 0.1630200952594105 1.0 0.678962818346221 11 Q9H6U8,Q9NSD9,P38435,P10253 4 |
| Hemivertebrae 0.5463671060790652 1.3943457361118148 0.163213225962826 1.0 0.678962818346221 12 P16435,Q9UHX1,Q15125,Q9Y619 4 |
| Hypokinesia 0.517959003718438 1.3918679503903193 0.1639623886275032 1.0 0.678962818346221 15 Q2TAA5,Q7LG56,P13473,P04062 4 |
| Abnormality of the peripheral nervous system 0.3518509489181364 1.3912685112651009 0.1641440186941276 1.0 0.678962818346221 101 O76024,Q10713,O60313,P04062,Q99720,Q9NR77,O15269,Q7LG56,P42892,Q9NZJ7,Q9Y619,P07196,P21964,P50570,O43681,Q9NQZ5,Q15067,P07602 18 |
| Cerebellar hypoplasia 0.3342578216384195 1.3910864793521331 0.1641992043606217 1.0 0.678962818346221 116 Q969N2,Q10713,Q9BVA1,P07437,Q9Y487,Q9NVI7,Q9BV10,Q6NUK1,Q8NAT1,Q5XKP0,P00374,Q9H3H5,P23786,O43175,O43292,Q15125,Q9Y5P6,P55795,Q9H490,Q15058,Q12768,Q15907,Q8TD16,Q9BUK6 24 |
| Vaginal atresia 0.8903562653562664 1.3906585795523918 0.1643289835565227 1.0 0.678962818346221 2 P16435 1 |
| Aplasia hypoplasia of the cerebral white matter 0.6201159541273884 1.3887411394743217 0.1649114795009012 1.0 0.6802414640608093 8 P03886 1 |
| Pleural effusion 0.5911476619605214 1.3852274552259365 0.1659829280663385 1.0 0.683441726962377 9 P14174,Q9NZ08,Q14739,P49327 4 |
| Oromandibular dystonia 0.7341160083940054 1.3844363724509008 0.1662248781804445 1.0 0.6836259827414045 4 Q99720,P35637 2 |
| Bradycardia 0.5443582260466638 1.3825144468852124 0.1668137977056005 1.0 0.6836259827414045 12 Q9BTV4,O75208,Q9H0U9,Q03001,O75880,Q99996 6 |
| Oligohydramnios 0.4273048731773203 1.381378088369862 0.1671627394884578 1.0 0.6836259827414045 33 Q9BUB7,Q9UHX1,Q7LGA3,Q15058,Q969X5,Q9Y5P6,P23786,Q9H6U8,Q9NSD9,Q6NUK1,P16435,Q9Y2B2 12 |
| Abnormality of cardiovascular system electrophysiology 0.3265951341674065 1.381222948107985 0.1672104209516713 1.0 0.6836259827414045 121 P21912,P04062,O43819,Q7LG56,Q9NZJ7,P10253,Q9H3H5,P23786,Q03001,P50402,P07602,Q9BUB7,O14662,Q9Y5Y5,P00846,Q9Y5P6,Q15056,O75880,O75381,P42892,Q9H490,P40855,P53701,Q9Y4P3,P50416,P50542,P03886,P00403,P40939 29 |
| Telangiectasia 0.4222797156747748 1.377898559864675 0.1682346096614095 1.0 0.6846130916308596 37 P21912,O75306,P00846,P10619,P03886,Q8IZA0,Q14739,O43826,Q9Y2B2 9 |
| Turricephaly 0.543547291901893 1.3777358169868306 0.1682848686829914 1.0 0.6846130916308596 12 P16435,P50542,Q6NUK1,P21964 4 |
| Elevated circulating long chain fatty acid concentration 0.8894009216589851 1.3775566915161552 0.1683402000831071 1.0 0.6846130916308596 3 P40855,P23786 2 |
| Trismus 0.7315775407824872 1.3735446561733278 0.1695830885715596 1.0 0.6848258112688816 4 P04062 1 |
| Thin ribs 0.5255715639206168 1.3731260170456832 0.1697131742058255 1.0 0.6848258112688816 13 Q9Y619,O75844 2 |
| Gastric ulcer 0.8882390437694088 1.3730449040655626 0.1697383874597522 1.0 0.6848258112688816 3 P04062 1 |
| Generalized onset seizure 0.3485339972568124 1.3729172495514934 0.1697780734262008 1.0 0.6848258112688816 103 Q969N2,P21912,P04062,Q9NVI7,Q9NW15,Q13510,Q9NZJ7,Q8NHS3,P00374,P05023,Q96C86,Q9H3H5,Q9Y619,P07602,O43175,O43292,Q8NB90,P00846,P51649,Q05086,Q14108,P03886,O75503 23 |
| Abnormal nasal mucosa morphology 0.7313151073888464 1.3724184893834606 0.169933197530836 1.0 0.6848258112688816 4 Q13432 1 |
| Cessation of head growth 0.6541729498604236 1.371211731357174 0.1703089622039308 1.0 0.6848258112688816 6 Q05086 1 |
| Cholecystitis 0.616292598269846 1.3696916097684286 0.1707831888883118 1.0 0.685504744287807 8 Q9NZJ7,P07602 2 |
| Abnormal exteroceptive sensation 0.3703480986278191 1.3688701414523223 0.1710398706361309 1.0 0.6855208812459084 56 O14662,Q9NZ08,P06280,Q9H6K4,Q9NR77,O15269,O95831,Q7LG56,P54802,Q9NZJ7,P07196,Q8NCH0,P07602,Q13045 14 |
| Abnormal circulating aromatic amino acid concentration 0.6756263141394296 1.3681460988155016 0.1712663495194668 1.0 0.6856585282926534 5 P16930 1 |
| Hand polydactyly 0.4260341109013919 1.3632215838372437 0.172812686866095 1.0 0.6881296773796298 32 Q7Z4L5,Q10713,Q9UHX1,Q15125,O95202,Q12768,Q14739,P21964,Q15067,Q13045 10 |
| Abnormal rib cage morphology 0.3674317610841497 1.3599270001476755 0.1738530258135697 1.0 0.690039820911542 74 Q9UHX1,Q8TAA9,O95202,Q9BV10,P00813,Q7RTS9,P15586,P54802,P04066,Q9Y619,P16435,Q7Z4L5,O75718,P07237,O95831,P08236,Q14739,O75844,P16278,P50570,Q12768 21 |
| Abnormality of the gastric mucosa 0.4896278554611338 1.3594398559234122 0.1740072487772022 1.0 0.6900596212227984 17 Q9Y4P3,P04062,Q6PGP7,Q15056,Q14739,O76024 6 |
| Contractures of the joints of the upper limbs 0.3681008341230349 1.357090487542561 0.174752460597263 1.0 0.6906766211442014 71 Q9BUB7,Q7LGA3,Q15392,Q969X5,P50542,Q9NR77,P23786,Q8IZA0,P50402,Q9Y619,P35637,P07196,P16435,Q99720,O75844,P42892,Q9Y2B2 17 |
| Tritanomaly 0.8840517642081978 1.356786052284663 0.1748492005388158 1.0 0.6906766211442014 3 Q9H6K4 1 |
| Anomalous trichromacy 0.8840517642081978 1.356786052284663 0.1748492005388158 1.0 0.6906766211442014 3 Q9H6K4 1 |
| Bone pain 0.4575942620984353 1.356457291020605 0.1749537154045735 1.0 0.6906766211442014 21 Q14108,P07602,P04062 3 |
| Unilateral renal agenesis 0.4767556229954464 1.3559579286064527 0.1751125544233198 1.0 0.6906766211442014 18 Q86XL3,P16435,Q7LGA3,Q9UHX1 4 |
| Skin nodule 0.4575093568818985 1.35581638536806 0.1751575965814662 1.0 0.6906766211442014 21 Q9NZ08,P21912,Q13510,O43826,P16615 5 |
| Eeg with polyspike wave complexes 0.6134781949733177 1.3556567464018845 0.1752084075696687 1.0 0.6906766211442014 8 Q14108 1 |
| Abnormal pleura morphology 0.460502024043523 1.35378347177745 0.1758054682778427 1.0 0.6908968824355978 20 Q9NZ08,P36543,P08236,O15460,Q6NUK1,Q14739,Q8NCH0,P14174 8 |
| Joint hemorrhage 0.8808353808353854 1.3514327068469754 0.1765568625973472 1.0 0.6908968824355978 2 P38435 1 |
| Malabsorption 0.3864712094536738 1.3480740719966924 0.177634559777807 1.0 0.6908968824355978 51 P40855,Q9UJW0,Q96A33,Q9NZ08,P06280,Q9Y4P3,Q14566,Q08J23,Q9Y5Y5,P50542,Q15056,P09601,Q14739,O76024,O75381 15 |
| Hyperkeratosis 0.3684376820561937 1.3455847338096791 0.178436477733531 1.0 0.6908968824355978 57 Q06136,P51648,P21912,P04062,Q9Y2B2,O15269,P42167,O75844,P98194,P16615 10 |
| Deformed sella turcica 0.6704504949292549 1.3446411627107528 0.1787411436968287 1.0 0.6908968824355978 5 Q7RTS9 1 |
| Abnormal blood potassium concentration 0.520842923213144 1.3440069573558444 0.1789461371160623 1.0 0.6908968824355978 13 Q6PML9,Q13423 2 |
| Retinal vascular tortuosity 0.4750037292565768 1.3435226157570963 0.1791028079796826 1.0 0.6908968824355978 18 Q9Y4P3,Q96DF8,P00846,P03886,Q15056,P21964 6 |
| Spinal deformities 0.6698852861301761 1.342073281136923 0.1795722361992202 1.0 0.6908968824355978 5 Q9BQP7,Q9H9S5,Q9Y5P6 3 |
| Congenital hypothyroidism 0.7238687091721069 1.3404537053789711 0.1800978855577208 1.0 0.6908968824355978 4 Q13423 1 |
| Abnormal pons morphology 0.4520654427296393 1.340365906561561 0.1801264141680536 1.0 0.6908968824355978 22 Q9BVA1 1 |
| Neurofibrillary tangles 0.7233721125231413 1.338321356176029 0.1807917030053172 1.0 0.6908968824355978 4 O15118,P61916 2 |
| Abnormal synaptic transmission at the neuromuscular junction 0.4229549852872868 1.3364971216745611 0.1813868406695851 1.0 0.6908968824355978 32 Q68CQ7,Q9H3H5,Q9UHD9,Q7LG56,P35637,Q15165 6 |
| Thyroiditis 0.5817952705797571 1.3360692665551506 0.181526634248486 1.0 0.6908968824355978 9 Q96J02,P50851,P00813,O43826,P49327 5 |
| Desquamation of skin soon after birth 0.8785196920443736 1.3353094503347258 0.1817750868835219 1.0 0.6908968824355978 3 P00813 1 |
| Thick hair 0.6367200834874452 1.333787480663395 0.1822735150754435 1.0 0.6908968824355978 7 Q9Y487 1 |
| Abnormality of alkaline phosphatase level 0.4511947712786661 1.3336952069295096 0.1823037662553617 1.0 0.6908968824355978 22 Q8N511,Q969N2,Q96A33,Q9Y2B2 4 |
| Myoclonic spasms 0.6366932698523274 1.333660181945508 0.1823152498812681 1.0 0.6908968824355978 7 Q10713,P00846 2 |
| Gastrointestinal hemorrhage 0.421768499956358 1.3329139468663602 0.1825600451289555 1.0 0.6908968824355978 33 Q9NZ08,P21912,Q9UHX1,P49257,P16930,O76024,P21964 7 |
| Diffuse mesangial sclerosis 0.4856208383385726 1.3319425373779692 0.1828790716588855 1.0 0.6908968824355978 17 P00813 1 |
| Knee flexion contracture 0.4284516630346888 1.331046755325794 0.1831736269745718 1.0 0.6908968824355978 29 P21912,Q7LGA3,Q9H3H5,Q969X5,P23786,Q86XL3,Q8TD16 7 |
| Diastasis recti 0.7215155384556116 1.3303487771413065 0.1834033830577877 1.0 0.6908968824355978 4 Q8NCH0 1 |
| Abnormal circulating igg level 0.5186207761379806 1.3303042684900324 0.1834180413749637 1.0 0.6908968824355978 13 Q15904,P00813 2 |
| Abnormal midbrain morphology 0.6078815134098041 1.3277178683156874 0.184271328370126 1.0 0.6908968824355978 8 Q10713,P04062 2 |
| Abnormality of the parathyroid gland 0.4466063460092709 1.325591632651874 0.1849749992722178 1.0 0.6908968824355978 23 Q969N2,O14662,Q96DF8,Q08J23,P03886,P21964,P00403,P40939 8 |
| Aplasia hypoplasia involving the skeletal musculature 0.5502247278689032 1.3217404788185911 0.1862545845183079 1.0 0.6908968824355978 11 Q9NR77,Q8NAT1,Q9Y487,Q9H6U8 4 |
| Aplastic clavicle 0.7189645664388707 1.319392923917581 0.1870377861774375 1.0 0.6908968824355978 4 Q9Y619 1 |
| Foam cells 0.6647767947138054 1.318855229772619 0.1872175159368088 1.0 0.6908968824355978 5 Q13510,O15118,P16278 3 |
| Enlarged thorax 0.4946204378245938 1.3136042268962589 0.1889794255395409 1.0 0.6929449989873795 16 Q7RTS9,P08236,P04066,O75844 4 |
| Stillbirth 0.5486372060197693 1.3127236074925768 0.1892760997083162 1.0 0.6929449989873795 11 P16435,O43175,O75844,P04062 4 |
| B lymphocytopenia 0.5772077668975478 1.3119085014885234 0.189551008705898 1.0 0.6929449989873795 9 P00813,Q13432 2 |
| Abnormality of the intrahepatic bile duct 0.7168954904241288 1.3105057213735591 0.1900248099913142 1.0 0.6929449989873795 4 Q10713 1 |
| Abnormal cortical gyration 0.3238948750119646 1.3089258439761706 0.1905594713288356 1.0 0.6929449989873795 127 Q96N66,Q9NZ01,Q10713,Q9BVA1,Q9HC21,P07437,Q13885,Q9Y487,Q86XL3,Q9BV10,Q8NAT1,Q9H9S5,P37268,Q96C86,Q08J23,P23786,O43175,Q9Y5Y5,Q9Y5P6,Q16625,O75381,Q9UPN3,P40855,Q15392,Q15058,P50542,Q01105,Q96EK5,Q9Y320,Q8TD16 30 |
| Leg muscle stiffness 0.8710421804080632 1.306291141367882 0.1914535684984302 1.0 0.6929449989873795 3 P00846 1 |
| Hyperkalemia 0.6402718047790672 1.306221508786635 0.1914772403923366 1.0 0.6929449989873795 6 Q13423 1 |
| Decreased circulating level of specific antibody 0.603540826838292 1.3060238531412032 0.1915444460053983 1.0 0.6929449989873795 8 P50851,P00813,Q9H0U3,Q9BV10 4 |
| Decreased light and dark adapted electroretinogram amplitude 0.8695761943135336 1.3006039254202568 0.1933940627179291 1.0 0.6929449989873795 3 P50897 1 |
| Myopathic facies 0.6293553300981937 1.2987986799496412 0.1940130277989451 1.0 0.6929449989873795 7 Q969X5,Q9Y5P6,Q9BUK6 3 |
| Abnormal circulating aspartate family amino acid concentration 0.6020900743073692 1.2987686684145237 0.1940233301378016 1.0 0.6929449989873795 8 Q6PGP7 1 |
| Abnormality of the ischium 0.8679361179361225 1.298367811405746 0.1941609745576711 1.0 0.6929449989873795 2 Q8IZA0 1 |
| Hyperextensible skin 0.513428873776401 1.2982445776479234 0.194203304393759 1.0 0.6929449989873795 13 Q8NCH0,Q9UHX1 2 |
| Abnormal heart valve morphology 0.3608973606024783 1.296579749973987 0.1947758237029948 1.0 0.6929449989873795 78 Q9BUB7,P16278,P53701,Q9UHX1,Q9Y4P3,P04062,O95202,P55795,Q9H6U8,Q6PGP7,P08236,Q6NUK1,Q8NCH0,Q15056,O75844,P21964,Q9Y2B2 17 |
| Breech presentation 0.5742181114313011 1.2961474774573436 0.1949246806203088 1.0 0.6929449989873795 9 Q969X5,O60313,Q9Y619 3 |
| Delayed puberty 0.3783974761588362 1.295921754521916 0.1950024434915309 1.0 0.6929449989873795 52 O76024,P04062,Q9NVI7,O75844,Q15800,O43826,Q14108 7 |
| Chorioretinal degeneration 0.6591993204460261 1.293489299580418 0.195841882568728 1.0 0.6937153909590406 5 Q9Y619 1 |
| Cortical cataract 0.867421125978367 1.292244787585966 0.1962723858105604 1.0 0.6943470596380689 3 Q9H6K4 1 |
| Ectopic anus 0.5023297949202449 1.2912115042625891 0.1966303470029979 1.0 0.6944920639595753 15 P16435,Q6NUK1,P53701,Q9Y2B2 4 |
| Abnormality of the pharynx 0.3779365802156906 1.2908585644091848 0.1967527257324921 1.0 0.6944920639595753 52 Q13432,Q03518,Q13277,Q7RTS9,P15586,P08236,Q13510,Q9BV10,P54802,P00813,P21964 11 |
| Peripheral neuropathy 0.3469879679588659 1.28964081053533 0.1971753991905909 1.0 0.6948423592856909 167 Q9P0J0,Q10713,Q9Y2R0,Q9NVI7,Q7LG56,Q9NZJ7,O76024,O43681,P05023,P16930,Q03001,Q7KZN9,Q96CU9,P54802,P07196,Q15067,P07602,O60313,P00846,O95470,P50570,Q9NR77,P50542,P03886,O15269,Q8IV08,P00403,P40939 28 |
| Ophthalmoparesis 0.3605218122018788 1.2867889891395867 0.1981678457950866 1.0 0.6954839047379019 77 Q9P0J0,Q10713,Q8N183,P50570,P21912,O60313,P04062,O43819,P00846,P03886,Q7KZN9,Q96CU9,Q7LG56,O76024,P00403,Q96HR9 16 |
| Abnormal renal vascular morphology 0.7112102046116275 1.2860827488360749 0.1984141840450366 1.0 0.6954839047379019 4 P21912 1 |
| Joint contracture of the hand 0.3893769272465996 1.2832025784387466 0.1994211128827696 1.0 0.6954839047379019 48 Q9BUB7,Q15392,P50542,Q9NR77,Q8IZA0,Q9Y619,P07196,O75844,P16435,P42892,Q9Y2B2 11 |
| Abnormal autonomic nervous system physiology 0.4173685041992282 1.2827630908144585 0.1995750887268814 1.0 0.6954839047379019 31 P04062,Q9NZJ7,O76024,O43681,P42892,P07602 6 |
| Upper limb muscle weakness 0.4296770263536714 1.2818174164790828 0.1999067031041175 1.0 0.6954839047379019 26 P46976,Q969X5,Q9Y5P6,P00846,P50402,P07196,P50570 7 |
| Abnormal csf metabolite level 0.3631272071271054 1.2812782557235525 0.2000959476365538 1.0 0.6954839047379019 60 Q9P0J0,Q9Y6M9,P13073,P00403,Q8N183,O75306,O43819,Q9HC21,P00846,P03886,O96000,Q7KZN9,Q96CU9,Q86Y39,O43676,Q8NI60 16 |
| Heterotropia 0.3627123168375912 1.2797941421268102 0.2006175446037437 1.0 0.6954839047379019 56 Q969N2,O43175,Q9UHX1,P04062,O43819,Q9H3H5,P50542,Q9NVI7,Q9H6U8,Q7LG56,Q05086,P40939,Q9Y2B2 13 |
| Kinetic tremor 0.4147587352857446 1.278829456118792 0.2009571186409633 1.0 0.6954839047379019 34 Q9BUB7,Q9NW15,Q9NZJ7,O43681,P07602,Q14108 6 |
| Abnormal vascular physiology 0.3734810743375746 1.2787788816758976 0.2009749326462857 1.0 0.6954839047379019 53 Q9NZ08,Q9Y4P3,O43826,P04062,P03886,Q8IZA0,Q15056,Q6NUK1,Q14739,O75844,P00403,Q14108 12 |
| Generalized edema 0.7091443353434478 1.2772074314691166 0.2015290240318155 1.0 0.6954839047379019 4 O43175,Q9H3H5 2 |
| Middle age onset 0.5571483463315166 1.2748824728338009 0.2023508436722969 1.0 0.6961832597773073 10 P07602 1 |
| Diaphyseal sclerosis 0.862100737100743 1.2744015275769147 0.2025211512344567 1.0 0.6962511548759314 2 Q13126 1 |
| Onion bulb formation 0.5967804532690183 1.272197251754971 0.2033030438523073 1.0 0.6972923140892267 8 P50570,Q9NR77 2 |
| Abnormal circulating progesterone level 0.6539478783218522 1.2695933599709024 0.2042295158548994 1.0 0.6988771358700554 5 P16435 1 |
| Decreased circulating progesterone 0.6539478783218522 1.2695933599709024 0.2042295158548994 1.0 0.6988771358700554 5 P16435 1 |
| Mortality aging 0.3349161873474086 1.2688512842621935 0.2044941100415624 1.0 0.6988771358700554 109 P04062,O43819,Q9HC21,Q9NVI7,Q9NZJ7,Q6NUK1,Q9NPL8,Q6NUQ1,P16435,Q15067,P07602,O43175,Q9BUB7,O75718,Q13277,Q9Y5Y5,Q9BT22,Q15904,Q15056,Q14739,O75844,P16278,P50570,O75381,P40855,Q9Y4P3,P50542,O96000,Q12768 29 |
| Abducens palsy 0.8609290618774288 1.2670741960292855 0.2051287611750141 1.0 0.699495126602703 3 P07602 1 |
| Arteriosclerosis 0.5035477436651639 1.2657890204206488 0.2055886270303717 1.0 0.70054665540784 14 P16278,O15118,P38435,Q13510,O75844 5 |
| Short chin 0.5672595789822139 1.2594195051605492 0.2078788478917397 1.0 0.701370978653269 9 Q03001 1 |
| Limb muscle weakness 0.3566555481616383 1.2591731156930537 0.2079678098226196 1.0 0.701370978653269 81 O43819,Q7LG56,Q13510,P05023,Q969X5,Q7RTS9,P50402,P07196,Q99720,Q15067,P00846,Q9Y5P6,Q14739,P50570,Q9NR77,Q13126,O15269,Q9BQT8,P40939 19 |
| Status epilepticus 0.3870198735212704 1.258689588913367 0.2081424733248795 1.0 0.701370978653269 48 P05023,O43292,P53701,Q15392,P50542,Q9Y487,Q9NZJ7,Q13510,P42892,P07602 10 |
| Hepatic fibrosis 0.4145299641945661 1.2582262080037228 0.2083099593517894 1.0 0.701370978653269 31 Q10713,P04062,Q6NUQ1,Q15904,Q6PGP7,Q13510 6 |
| Waddling gait 0.4197848511186275 1.2580261590254076 0.2083822959448815 1.0 0.701370978653269 29 Q9H3H5,Q7RTS9,P50402,Q13510,P07196,Q8TD16 6 |
| Glomerulopathy 0.5538610458486117 1.2568762613316768 0.208798445690872 1.0 0.701370978653269 10 P06280,Q9NZ08,Q14108 3 |
| Severe global developmental delay 0.3605910274798975 1.255493572047012 0.2092996400958617 1.0 0.701370978653269 67 Q9H490,O43175,P40855,Q96A33,Q7LGA3,Q96PZ0,Q7RTS9,Q9Y5Y5,P00846,Q9BT22,Q13885,P50542,P03886,Q9BV10,O75381,Q15067 16 |
| Long toe 0.593401306839098 1.2552729785506118 0.2093796809106594 1.0 0.701370978653269 8 Q9UHX1 1 |
| Chorioretinal dysplasia 0.6199570456589862 1.2540863283599812 0.2098106290753925 1.0 0.701370978653269 7 P53701,Q8NAT1 2 |
| Abnormal electroretinogram 0.4140306884235896 1.2539069810750691 0.2098758173039134 1.0 0.701370978653269 31 O14773,P00846,Q96S66,Q53H12,Q96HR9,P40939,Q15067,P50897 8 |
| Coarse hair 0.4499404186483667 1.2529881814696433 0.2102100078372157 1.0 0.701370978653269 19 Q96A33,P54802,Q9Y487,P15586 4 |
| Supernumerary tooth 0.5927835347479908 1.25217783580797 0.2105050704160844 1.0 0.701370978653269 8 Q9UHX1 1 |
| Abnormal glomerular mesangium morphology 0.4621473688449286 1.251974229118418 0.2105792546460394 1.0 0.701370978653269 18 P00813 1 |
| Abnormal meningeal morphology 0.4370038819631794 1.250766431354594 0.2110197054603997 1.0 0.701370978653269 23 Q10713,Q9UHX1,Q8TAA9,Q9H6U8,Q15904,P21964 6 |
| Pancreatic islet cell hyperplasia 0.8565284178187387 1.250023286529741 0.2112910409307966 1.0 0.701370978653269 3 P16930,P53985 2 |
| Hemoglobinuria 0.7023006840697693 1.2478059903171843 0.2121021144360328 1.0 0.7023063110486562 4 Q969N2,Q9H0P0 2 |
| Prenatal movement abnormality 0.3601514268784132 1.2473362976106968 0.2122742135298454 1.0 0.7023063110486562 58 O43175,Q8TD16,P40855,P04062,Q9H3H5,Q969X5,Q9HC21,Q9Y5P6,O95202,Q70HW3,Q9H6U8,Q7KZN9,O75844,P50570,Q13045 15 |
| Blurred vision 0.6479455890348625 1.2422693729935648 0.2141371914410714 1.0 0.7062556157086408 5 P00846 1 |
| Abnormal muscle glycogen content 0.6262932517773396 1.2407295088806845 0.2147056894000738 1.0 0.7071218716424085 6 Q93100,P46976,Q9BUK6 3 |
| Emg impaired neuromuscular transmission 0.5904119053425598 1.2402926940986674 0.214867153692817 1.0 0.7071499777050435 8 O60313,Q9H3H5 2 |
| Absent epiphyses 0.6258113735629393 1.2384699769304175 0.2155418477169146 1.0 0.7083621207128737 6 Q7LGA3 1 |
| Skin dimple 0.4147447540977852 1.2369614934594195 0.2161013785746153 1.0 0.7084537673073033 30 P53701,Q9Y4P3,Q15125,Q8TAA9,Q9H3H5,Q969X5,O95202,Q15056 8 |
| Increased blood pressure 0.3577899805668904 1.236010086936005 0.2164548142674709 1.0 0.7084537673073033 73 Q10713,Q9BUB7,P06280,P21912,Q8TAA9,P04062,Q9Y4P3,O43826,P03886,Q9H6U8,Q9NSD9,Q15056,P10644,O75844,P16435,P00403,P42892,P21964 18 |
| Premature birth 0.4005173204493073 1.2351301668877812 0.2167820637894735 1.0 0.7088363119037608 41 P40855,Q9BUB7,P04062,Q9Y5Y5,Q9BV10,O75844,O43676,O75381 8 |
| Corpus callosum atrophy 0.4827567176034908 1.2344630290254743 0.2170304150339692 1.0 0.7088363119037608 16 Q9H9P8,Q9Y5Y5,O60313,O75503 4 |
| Progressive muscle weakness 0.4935367558024457 1.2343180872018389 0.2170843986756288 1.0 0.7088363119037608 15 P40855,Q9Y5Y5,O75381 3 |
| Hepatomegaly 0.3488407098375176 1.2290616013183076 0.2190487106169427 1.0 0.7117615231366797 177 Q10713,O75306,P04062,Q9HC21,Q9NVI7,Q13510,P09601,Q9NZJ7,Q86Y39,P00813,P61916,P10253,Q9Y6M9,P00374,Q96A33,Q9H3H5,P16930,Q6NUQ1,P23786,P15586,Q9H6U8,Q96CU9,P54802,Q9Y619,P04066,Q15067,P07602,Q9BUB7,O15118,Q9Y5Y5,P00846,Q9BT22,Q15904,P08236,Q14739,O75880,P16278,O43676,O75381,Q14108,P40855,Q8N183,P50416,P50542,P03886,O96000,Q6PGP7,O43826,P40939 49 |
| Accessory spleen 0.6237230781390144 1.2286768345088206 0.21919299501441 1.0 0.7117615231366797 6 Q15904 1 |
| Slender build 0.5020431900585837 1.2277406086676166 0.2195443570262552 1.0 0.712402180273266 13 Q9NSD9,P04350 2 |
| Abnormality of extrapyramidal motor function 0.3570833109235276 1.227187690559069 0.2197520548886971 1.0 0.7125760882225354 73 Q6DKK2,Q9Y4P3,P04062,Q9H6K4,Q9H9P8,P17900,Q7LG56,Q9NZJ7,O14949,P35637,Q15056,Q99720,P07602 13 |
| Abnormal circulating free fatty acid concentration 0.6969883220651522 1.2249861922693055 0.2205804229742578 1.0 0.7142604172499777 4 Q16836,P40939,O75431 3 |
| Abnormal metabolism 0.3837388288986718 1.2245110833001005 0.2207594878591801 1.0 0.7143400083001041 48 Q8N511,Q2TAA5,Q9H3H5,Q9BT22,Q9Y487,Q15904,P46977,O43826 8 |
| Avascular necrosis 0.4397024085239127 1.2208480617588564 0.2221435525805108 1.0 0.7168121333791223 21 Q14108,O75844,P04062 3 |
| Urticaria 0.5319603066726615 1.217752845409643 0.2233179085075265 1.0 0.7178646388745229 11 P51648,P21912 2 |
| Abnormality of metacarpal epiphyses 0.642405739191028 1.2170434740989349 0.2235876755059618 1.0 0.7178646388745229 5 O95202 1 |
| Abnormality of small intestinal villus morphology 0.5855852022133593 1.2160912559779773 0.2239501610938132 1.0 0.7178646388745229 8 Q13277,Q6PGP7,Q9H6U8 3 |
| Diffuse cerebral atrophy 0.4687138022915841 1.215427261297514 0.2242031757727987 1.0 0.7178646388745229 17 Q10713,P07602 2 |
| Abnormality of coordination 0.4089056303700031 1.2150875548465552 0.2243326996482884 1.0 0.7178646388745229 317 Q9BVA1,P07437,Q13510,P04350,P50897,Q7KZN9,Q96CU9,O14949,P07602,Q9H6K4,P00846,O95470,O43676,Q14108,O14773,Q9NR77,P03886,Q8IV08,P00403,Q6P4A7,Q15907,Q10713,P04062,Q9Y487,Q7LG56,Q9NZJ7,Q86Y39,Q5XKP0,O43681,Q7RTS9,Q9Y619,Q9NQZ5,Q2TAA5,Q9Y5Y5,Q05086,Q6PML9,O75381,Q9Y4P3,O75503,P40939,Q9BUK6,P21912,O95202,Q9NVI7,Q9NW15,O76024,Q8NHS3,P00374,Q9H3H5,P07196,Q99720,Q15067,Q9BUB7,O60313,O15118,O75027,Q9NP80,P40855,Q8WWI5,P50542,Q9Y2B2,Q9P0J0,Q969N2,Q6DKK2,O43819,O00165,Q8NI60,Q9NZ08,P35637,O43292,Q9Y5P6,P55795,P51649,Q15056,P16278,Q8N183,O96000 77 |
| Hyperconvex nail 0.5844855936667049 1.2105755322654843 0.2260581263603165 1.0 0.7197860501955465 8 P42892,Q9Y619 2 |
| Multifocal cerebral white matter abnormalities 0.6408728745063695 1.2100628447385673 0.2262547790022888 1.0 0.7197860501955465 5 Q9Y619 1 |
| Chorea 0.3502610396925872 1.2095424669731778 0.2264545062030478 1.0 0.7197860501955465 86 Q9P0J0,Q96N66,O75306,O43819,Q9NZJ7,Q5XKP0,O43681,P04350,Q96C86,Q08J23,P17900,P35637,Q99720,Q96IX5,Q9BWD1,P07602,Q9H6K4,P00846,Q6PML9,P03886 20 |
| Abnormal blood ion concentration 0.3556464446515247 1.206111695110566 0.2277744260493137 1.0 0.7228750487659759 72 Q969N2,P05023,O14662,Q13423,P21912,Q9Y4P3,Q96DF8,O43819,P16930,Q8NB90,Q9Y487,Q15904,Q6PGP7,Q9BV10,P21964,Q6PML9,P40939 17 |
| Type ii lissencephaly 0.6919800408375911 1.2034779672947358 0.228791412453345 1.0 0.724610610400183 4 Q9Y5P6,Q8NAT1 2 |
| Abnormal acetabulum morphology 0.4370780623141764 1.2008735723144264 0.2298002471281663 1.0 0.7250708349852741 21 O75718,Q969X5,Q7RTS9,Q6NUQ1,P08236,Q9Y584 6 |
| Wide anterior fontanel 0.4192522914297517 1.196689846536405 0.2314274660206736 1.0 0.7250708349852741 26 P40855,Q15125,Q9Y5Y5,P50542,Q9Y487,Q9H6U8,Q6NUK1,P16435,O75381 9 |
| Increased muscle glycogen content 0.6901178790325426 1.1954827278979905 0.2318984805674939 1.0 0.7250708349852741 4 Q93100,Q9BUK6 2 |
| Abnormal labia minora morphology 0.6075862053111268 1.19515247184061 0.2320274641142967 1.0 0.7250708349852741 7 Q9Y619 1 |
| Neoplasm of fatty tissue 0.5425780348813762 1.194971691361301 0.2320980906145808 1.0 0.7250708349852741 10 P21912,Q9BUK6 2 |
| Aplasia hypoplasia of the cerebellum 0.3187879876679761 1.194684384448964 0.2322103657757086 1.0 0.7250708349852741 130 Q969N2,Q10713,Q9BVA1,P07437,O95202,Q9Y487,Q9NVI7,Q9BV10,Q6NUK1,Q8NAT1,Q5XKP0,P00374,Q9H3H5,P23786,O43175,O43292,Q15125,Q9H9P8,Q9Y5P6,P55795,Q9H490,Q15058,Q12768,Q15907,Q8TD16,Q9BUK6 26 |
| Axonal degeneration 0.6074297947020413 1.1944069258793262 0.232318828939491 1.0 0.7250708349852741 7 P50570,Q9BQT8 2 |
| Short nail 0.6371527444853966 1.1931210483192245 0.2328219692802129 1.0 0.7250708349852741 5 O75844 1 |
| Hypocalcemia 0.4654483029036082 1.1928424229833925 0.232931092089091 1.0 0.7250708349852741 17 O14662,Q96DF8,Q9NSD9,Q9BV10,P10644,P21964,P40939 7 |
| Limitation of movement at ankles 0.6894622735228324 1.1926681555788816 0.2329993618537971 1.0 0.7250708349852741 4 O75844 1 |
| Severe short stature 0.4258054668304645 1.190118277621434 0.2339999073634338 1.0 0.725198951058921 24 P53701,Q15392,Q7RTS9,P10619,Q9Y619 5 |
| Spastic diplegia 0.4256771657084361 1.1890989207184457 0.2344007430466916 1.0 0.725198951058921 24 P07602,Q99720,Q9NZJ7,P51648 4 |
| Retinal hemorrhage 0.6147376590372094 1.1865233325740887 0.2354156927300772 1.0 0.725198951058921 6 Q9Y487 1 |
| Anteriorly placed anus 0.5109188032504797 1.1843790479506964 0.236263050269105 1.0 0.725198951058921 12 P16435,P53701,Q9Y2B2 3 |
| Prominent superficial blood vessels 0.494663228183284 1.1819157214017206 0.2372391432533787 1.0 0.725641420957954 13 Q9Y487,O75844 2 |
| Quadriceps muscle weakness 0.6137352963109446 1.1818197939843669 0.2372772120433448 1.0 0.725641420957954 6 Q7LG56 1 |
| Diffuse white matter abnormalities 0.5400565682249084 1.1811189896328655 0.2375554571607532 1.0 0.7260121836823019 10 O75306,O43819,Q9Y5P6,P16278,Q9H9S5 5 |
| Basal ganglia cysts 0.6043888306464602 1.1799104311226674 0.2380358406856801 1.0 0.7262246696555446 7 P00846 1 |
| Disproportionate short trunk short stature 0.6339586941049558 1.178575337627636 0.2385673168699766 1.0 0.7262246696555446 5 Q7RTS9,Q9UHX1 2 |
| Hemolytic anemia 0.4041382188543539 1.1776654164221374 0.2389300193405044 1.0 0.7263723927879635 33 P00813,P09601 2 |
| Abnormal temper tantrums 0.5390895702856169 1.1758048532911578 0.239672866557373 1.0 0.7273546105130746 10 Q9BVA1 1 |
| Adrenal insufficiency 0.4145982341739415 1.1756744164111463 0.2397250057140842 1.0 0.7273546105130746 27 P40855,Q13423,Q9Y5Y5,O95470,P16435,O75381 6 |
| Anasarca 0.837530712530717 1.1738643852848192 0.2404493497357918 1.0 0.7280692192501222 2 Q9H3H5 1 |
| Generalized hyperpigmentation 0.5240943781555742 1.172826028338242 0.2408655780995099 1.0 0.7280692192501222 11 P51648 1 |
| Fetal akinesia sequence 0.6116984020253534 1.1722613742948491 0.2410921341816663 1.0 0.7280692192501222 6 P04062 1 |
| Sporadic 0.4194948640515876 1.1682520969165793 0.242705091763927 1.0 0.7297878662135545 25 P21912,P04062,O95202,Q05086,P04350 5 |
| Somatic sensory dysfunction 0.3313510969734369 1.1678670032111285 0.2428604158464038 1.0 0.7297878662135545 106 O14773,Q9NZ08,O43819,Q9H6K4,Q9NR77,P00846,O15269,Q8IV08,Q7LG56,Q9NZJ7,Q8NCH0,P54802,Q9Y619,P07196,P50570,O00165,P07602,Q9BUK6 18 |
| Cold induced muscle cramps 0.8352721229187907 1.1678347060131862 0.2428734458063024 1.0 0.7297878662135545 3 Q9NR77 1 |
| Multicystic kidney dysplasia 0.4384480880264547 1.1677828658826237 0.2428943611813712 1.0 0.7297878662135545 19 Q9Y5Y5,Q10713,O75381,P40855 4 |
| Decreased ldl cholesterol concentration 0.6831591886908437 1.1656175172841603 0.2437691221692466 1.0 0.730044314061267 4 Q15800,P48643,P37268 3 |
| Abnormal corpus striatum morphology 0.4722906200779729 1.1643864900406424 0.2442674200701642 1.0 0.7305902654621212 16 P00846,Q9BVA1,O75306,O43819 4 |
| Decreased plasma carnitine 0.5073660325837317 1.1632221022883753 0.2447394012638077 1.0 0.7315287598214915 12 P23786,O75880 2 |
| Sea blue histiocytosis 0.8337941628264192 1.162133293564083 0.2451813254814903 1.0 0.7318278640946658 3 O15118,P16278 2 |
| Abnormality of corneal stroma 0.5071563983874788 1.16197325651104 0.2452463282661994 1.0 0.7318278640946658 12 P04062,P50542,P10619,Q13510,P16278 5 |
| Recurrent pneumonia 0.4372771716072364 1.1590835217747066 0.2464221419540213 1.0 0.7318278640946658 19 P00813,Q13432 2 |
| Long fingers 0.3503770414463021 1.1579443067840198 0.2468867648594879 1.0 0.732267094746807 77 P16435,Q06136,Q9UHX1,Q9H3H5,P07437,O95202,P23786,Q9BV10,Q8NCH0,P21964,P42892,Q15907 12 |
| Diaphragmatic weakness 0.628669079248204 1.1544892255850354 0.2482996533284698 1.0 0.732971413070171 5 Q9NR77 1 |
| Gastrointestinal obstruction 0.4902132981789994 1.1542447598116992 0.2483998367162239 1.0 0.732971413070171 13 P16930,P42892 2 |
| Temporal pattern 0.5984908447437551 1.1517884956931697 0.2494079964295492 1.0 0.732971413070171 7 Q9NR77,O60313,P04062 3 |
| Abnormal b cell morphology 0.5045991654763496 1.1467353058992602 0.2514910340370482 1.0 0.7350787240122066 12 P00813,Q13432 2 |
| Woolly hair 0.6268216068375863 1.1460782146415305 0.2517627907782991 1.0 0.7354081772323785 5 Q6PGP7 1 |
| Abnormal lung lobation 0.4692676393939704 1.1441087781833268 0.2525785276639194 1.0 0.7366405201239965 16 P21964,Q969N2,Q9UHX1,Q9H6U8 4 |
| Posterior subcapsular cataract 0.6056617417913025 1.1439323110070487 0.2526517098501255 1.0 0.7366405201239965 6 Q9H6K4 1 |
| Skeletal dysplasia 0.3873691220714725 1.143906052879146 0.25266260054426 1.0 0.7366405201239965 43 Q7Z4L5,P40855,P51648,P07237,Q7RTS9,Q9Y5Y5,P10619,P50542,Q9H6U8,Q14739,P16278,O75381 12 |
| Chorioretinal atrophy 0.6779812769960699 1.1434107862771028 0.2528680762008974 1.0 0.7367750373994644 4 Q9Y619 1 |
| Abnormality of the synovia 0.3466444703118458 1.1412967449266984 0.2537464562588121 1.0 0.7369219766693792 83 Q96A33,O75718,Q9UHX1,Q969X5,Q7RTS9,Q6NUQ1,O95202,Q9NQT5,Q9Y487,Q9H6U8,Q9Y5P6,P08236,O75844,P16435,Q9Y584,Q8TD16,Q9Y2B2 17 |
| Decreased specific antibody response to vaccination 0.6774582368858454 1.141168498750483 0.2537998105477781 1.0 0.7369219766693792 4 P50851,Q9BV10 2 |
| Positive romberg sign 0.5324240469744702 1.1391541664903646 0.2546388584512673 1.0 0.7369219766693792 10 Q9H6K4,Q8IV08 2 |
| Abnormal dermatoglyphics 0.3500237708663001 1.138820011066909 0.2547782335818267 1.0 0.7369219766693792 73 P40855,Q9UHX1,Q9Y4P3,Q9H3H5,Q969X5,Q9Y5Y5,P50542,O95202,Q9Y487,Q8NCH0,O75381,Q15907,Q9Y2B2 13 |
| Abnormality of the septum pellucidum 0.3847779729160515 1.138123193002345 0.2550690447672579 1.0 0.7369219766693792 44 Q96N66,Q9NZ01,O43175,Q9BVA1,P53701,Q96C86,Q15392,Q08J23,O95202,P51571,Q9BV10,Q8NAT1,Q15910 13 |
| Brisk reflexes 0.4225424331412158 1.1375386443238635 0.2553131792205287 1.0 0.7369219766693792 23 Q99720,Q10713,Q9NW15,Q8NI60 4 |
| Pharyngitis 0.6762764312141751 1.1361027274709812 0.2559135736865534 1.0 0.7369219766693792 4 Q9BV10 1 |
| Aplasia hypoplasia of the skin 0.3504621444200008 1.1359123995850828 0.2559932283318227 1.0 0.7369219766693792 56 P53701,Q15392,O95202,Q03001,Q8NCH0,Q9Y619,O75844,Q13126 8 |
| Enlarged ovaries 0.8267281105990764 1.134904321276335 0.2564154091578678 1.0 0.7369219766693792 3 P16435,P21912 2 |
| Abnormal ureter morphology 0.4116635458426266 1.1345091120447437 0.2565810537211508 1.0 0.7369219766693792 26 Q969N2,Q7LGA3,Q8TAA9,Q15058,P23786,O75844,O76024 7 |
| Abnormal nipple morphology 0.3501735417778991 1.130741721936935 0.2581638152581769 1.0 0.7369219766693792 57 Q2TAA5,Q969N2,Q96A33,Q7LGA3,Q9H3H5,P07437,O95202,P23786,Q9H6U8,Q12768,Q9BV10,Q6NUK1,Q15910,Q9Y5P4,Q15067,Q9Y2B2 16 |
| Generalized muscle weakness 0.398071614543023 1.130137543151216 0.258418272274507 1.0 0.7369219766693792 34 Q68CQ7,P21912,Q9UHD9,Q15165,P40939 5 |
| Retinal pigment epithelial mottling 0.8252408160733089 1.1291796065628088 0.25882207481373 1.0 0.7369219766693792 3 P00846 1 |
| Bacterial endocarditis 0.8264742014742092 1.1288783848779935 0.2589491402118666 1.0 0.7369219766693792 2 P04062 1 |
| Congenital craniofacial dysostosis 0.826474201474205 1.1288783848779764 0.258949140211874 1.0 0.7369219766693792 2 Q6NUK1 1 |
| Pseudohypoparathyroidism 0.8264742014742038 1.1288783848779729 0.2589491402118755 1.0 0.7369219766693792 2 O14662 1 |
| Dilated fourth ventricle 0.3909524251970213 1.1280631454416377 0.25929325227803 1.0 0.7369219766693792 40 O43175,Q10713,Q15125,P07437,Q9Y5P6,P23786,Q9Y487,Q8NAT1 8 |
| Impaired visuospatial constructive cognition 0.5421356893868203 1.1264310839809135 0.259983095835208 1.0 0.7369219766693792 9 P00403,P03886 2 |
| Increased muscle lipid content 0.5300538256204391 1.1261141068253486 0.2601172236753037 1.0 0.7369219766693792 10 P23786,Q9BUK6 2 |
| Vitiligo 0.5929504654751021 1.1253687688489775 0.2604327996739541 1.0 0.7369219766693792 7 P03886 1 |
| Tremor by anatomical site 0.4084861285577586 1.1250003738403944 0.2605888758575534 1.0 0.7369219766693792 27 Q16637,Q9NR77,Q05086,P07196,P35637,Q99720,P04350 7 |
| Nausea and vomiting 0.3225258250339321 1.1236791926332923 0.261149146614698 1.0 0.7369219766693792 143 Q13423,P21912,O75306,Q9NSD9,Q7LG56,Q9NZJ7,Q86Y39,Q15165,Q9Y6M9,Q9NZ08,P51571,P23786,Q9H6U8,Q8IZA0,Q96CU9,Q9Y619,P35637,Q9Y584,P07602,Q2TAA5,O43175,Q68CQ7,Q13277,P00846,Q9NP80,Q15056,O43676,P22695,P11117,P42892,Q8N183,Q9Y4P3,Q9UHD9,P03886,O96000,P00403,P40939 37 |
| Limited hip movement 0.4764821686125513 1.1235459612447545 0.26120569198986 1.0 0.7369219766693792 15 Q969X5,Q7LGA3,O75844,Q03001 4 |
| Immunodeficiency 0.3495874803207138 1.1210274252060244 0.2622761887480755 1.0 0.7390402783492391 59 Q96A33,Q13432,P21912,Q9BT22,Q6PGP7,P09601,P00813,P21964 8 |
| Angiokeratoma 0.8227342549923173 1.1195371826856717 0.2629110373839136 1.0 0.739660051571461 3 P04066,P16278 2 |
| Abnormal thalamic size 0.672095881991397 1.118190863283513 0.2634854856797881 1.0 0.739660051571461 4 Q9H9S5,Q9Y5P6,Q9UPT5 3 |
| Muscle fibrillation 0.4653669587494184 1.1179230974405463 0.2635998393276439 1.0 0.739660051571461 16 Q16637,Q9BQT8,Q9NQT5,O95831,Q13510,P50570 6 |
| Reduced brain n acetyl aspartate level by mrs 0.822012711938356 1.116762821016673 0.2640957493824571 1.0 0.739660051571461 3 P07602 1 |
| Abnormal brain choline level by mrs 0.822012711938356 1.116762821016673 0.2640957493824571 1.0 0.739660051571461 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.822012711938356 1.116762821016673 0.2640957493824571 1.0 0.739660051571461 3 P07602 1 |
| Hypopigmentation of the fundus 0.8216569501868294 1.1153951253789691 0.2646811375231959 1.0 0.7400793801124042 3 P38435 1 |
| Type i diabetes mellitus 0.4992629742855488 1.1149177309119815 0.2648856777867709 1.0 0.7400793801124042 12 P03886 1 |
| Decreased circulating igg level 0.5138955831155756 1.1144849945157336 0.2650711783360657 1.0 0.7401504399915266 11 P00813 1 |
| Macroglossia 0.3951255760393216 1.110991988022752 0.2665717979790738 1.0 0.7429748843567571 35 Q10713,Q96A33,Q7LGA3,P21912,Q9Y4P3,Q9Y5P6,Q05086,Q15056,P04066,P10253 10 |
| Exercise induced muscle cramps 0.5984989440301718 1.11032272827387 0.2668599825128654 1.0 0.7429748843567571 6 P53985,P23786 2 |
| Skin plaque 0.6189517200945307 1.1102621212399628 0.2668860905961447 1.0 0.7429748843567571 5 P16615 1 |
| Paraplegia paraparesis 0.3470749089411518 1.1081532332711772 0.2677956441808884 1.0 0.7437233107776342 75 Q9P0J0,Q8N183,Q6DKK2,P21912,O60313,P04062,Q9H6K4,Q9Y5Y5,P00846,Q7KZN9,Q96CU9,Q13510,Q9Y619,P35637,Q12768,Q5XKP0 16 |
| Abnormality of female external genitalia 0.3938699156235766 1.1080645468024908 0.2678339408650709 1.0 0.7437233107776342 36 P40855,P53701,Q15392,Q9Y5Y5,P50542,Q9Y619,P16435,O75381 8 |
| Abnormal blood sodium concentration 0.5267411555025057 1.10788407342896 0.267911884689185 1.0 0.7437233107776342 10 Q13423 1 |
| Osteopenia 0.3473746122870543 1.1055579004102296 0.2689179202930798 1.0 0.7450093451856886 73 Q969N2,O43175,O43292,O75718,Q9Y4P3,P04062,Q13277,Q9Y487,Q9NSD9,Q9NZJ7,Q15056,P10644,O75844,O43826,Q13126,Q9H490,P07602,Q14108 18 |
| Metaphyseal cupping 0.8184331797235 1.1030084825494455 0.2700234814788858 1.0 0.7456783270656524 3 P50542,Q14739 2 |
| Prominent sternum 0.8184331797234998 1.1030084825494455 0.2700234814788858 1.0 0.7456783270656524 3 Q7RTS9,P16278 2 |
| Photophobia 0.3932868268271591 1.10274569741386 0.2701376158483133 1.0 0.7456783270656524 36 Q9NZ08,Q13432,P51648,Q9NZJ7,P40939,P07602 6 |
| Cachexia 0.4412297258608145 1.1021310798232085 0.2704046893001244 1.0 0.7456783270656524 18 P04062,Q7LG56,Q9NZJ7,Q99720,P07602 5 |
| Decreased cd4 cd8 ratio 0.6679567456002364 1.1004700032975834 0.2711273923446415 1.0 0.7471353171642566 4 Q13432 1 |
| Chronic hepatic failure 0.6676549307545654 1.0991784237084077 0.27169024802092 1.0 0.7482404448175902 4 Q10713 1 |
| Abnormal shape of the palpebral fissure 0.5959487808242246 1.0983597112456 0.2720474476677443 1.0 0.7483327769278107 6 Q9UHX1 1 |
| Cutaneous photosensitivity 0.4201100346116601 1.093976641927512 0.2739652227630218 1.0 0.7501190358862633 22 Q06136,Q08J23,P22830,P37268,Q14108 5 |
| Decreased calvarial ossification 0.6659022101258121 1.0916795246824302 0.2749739880000446 1.0 0.7501190358862633 4 O75844 1 |
| Single fiber emg abnormality 0.6148513146928856 1.0916127111433291 0.2750033666660592 1.0 0.7501190358862633 5 Q9H3H5 1 |
| Protuberant abdomen 0.5944865938228999 1.0915015043233445 0.2750522703093421 1.0 0.7501190358862633 6 Q7RTS9,P04062 2 |
| Clonus 0.3952514579051852 1.0908252350081626 0.2753497902628292 1.0 0.7501190358862633 31 Q969N2,Q8WWI5,O75027,Q9Y5P6,Q9BQT8,Q9NW15,Q9NZJ7,Q9Y619,P35637,Q99720,P07602 11 |
| Recurrent pancreatitis 0.8150830036906904 1.0901497914533878 0.2756471660857627 1.0 0.7501190358862633 3 P03886 1 |
| Hyporeflexia 0.3078845248160339 1.089316361543846 0.2760144000577227 1.0 0.7501190358862633 123 Q10713,P04062,Q7LG56,Q9NZJ7,Q8NAT1,O43681,P05023,Q9H3H5,P54802,P07196,P35637,Q99720,Q15067,P07602,O14662,P00846,P50570,Q9NR77,P50542,P03886,O15269,P40939,Q8TD16,Q9BUK6 24 |
| Inappropriate crying 0.5602485766383188 1.088878887207282 0.2762072977344516 1.0 0.7501190358862633 8 Q9NZJ7,P07602,Q9H6U8 3 |
| Acetabular dysplasia 0.5232526335625484 1.0886814392687143 0.2762943895116652 1.0 0.7501190358862633 10 Q969X5,P08236,Q9Y584 3 |
| Deformed tarsal bones 0.8160319410319441 1.0865782289257029 0.2772232509202239 1.0 0.7501190358862633 2 O43175 1 |
| Tachycardia 0.403608208045682 1.084495108806429 0.2781453344870863 1.0 0.7501190358862633 27 Q03001,P42892,P23786 3 |
| Scrotal hypoplasia 0.4381411285293664 1.0799387706509542 0.2801694469366378 1.0 0.7509626242267903 18 P16435,P07437,Q9BV10,P46977 4 |
| Delayed cranial suture closure 0.3939739721132048 1.0796957321405578 0.2802776950468753 1.0 0.7509626242267903 31 P40855,Q9Y487,Q9H6U8,Q8NCH0,O75844,P16435,O75381 7 |
| Meningocele 0.5075213892677517 1.077987494521144 0.2810393369791266 1.0 0.751696188552586 11 P21964,Q10713,Q8TAA9 3 |
| Falls 0.5829965481521797 1.0779115053569872 0.2810732504341309 1.0 0.751696188552586 7 Q9BQT8 1 |
| Recurrent paroxysmal headache 0.5208337889376208 1.0753648171067636 0.2822114271556279 1.0 0.7538680757756347 10 P00403,P03886 2 |
| Muscle hypertrophy of the lower extremities 0.5203981131907391 1.0729661396037735 0.2832863087296853 1.0 0.7542952429871149 10 P50570,Q9NR77,Q8NAT1 3 |
| Apnea 0.3412054573467052 1.0699185406710086 0.2846559767724583 1.0 0.7542952429871149 83 Q9P0J0,Q969N2,Q10713,P04062,Q9NZJ7,Q86Y39,O76024,Q96A33,Q9H3H5,P23786,Q03001,Q7KZN9,Q96CU9,P07602,O60313,P00846,O75880,P50542,P03886 19 |
| Atrophy degeneration involving the corticospinal tracts 0.4765818084581019 1.069341813118409 0.2849156760320066 1.0 0.7542952429871149 13 P00846,Q15056,Q9Y4P3,P35637 4 |
| Bruising susceptibility 0.3974200900590751 1.0684037454349218 0.2853384282553817 1.0 0.7542952429871149 29 P04062,P38435,Q8NCH0,Q13126,Q14108 5 |
| Hypoplasia of the musculature 0.5895495073735719 1.0683517084381986 0.2853618918042446 1.0 0.7542952429871149 6 Q9NR77,Q9Y487 2 |
| Abnormal leukocyte physiology 0.345359224450062 1.067935528479735 0.2855495948204452 1.0 0.7542952429871149 62 P04062,Q96DF8,Q15904,Q6PGP7,P09601,P00813,Q14108,P21964 8 |
| Atelectasis 0.4912676326385182 1.0672056546852522 0.2858789796630026 1.0 0.7542952429871149 12 Q13510 1 |
| Short ribs 0.5055427683592318 1.066655030520823 0.2861276407692408 1.0 0.754306847729173 11 Q7Z4L5,Q9BV10,Q14739,Q9Y619,Q15910 5 |
| Premature skin wrinkling 0.4357878143245109 1.0630218818248147 0.2877720282023528 1.0 0.7558086334181806 18 Q9Y487,O75844 2 |
| Abnormal aortic valve morphology 0.3854991976361659 1.0628819078086018 0.287835508658989 1.0 0.7558086334181806 39 Q9BUB7,Q9UHX1,Q9Y4P3,P04062,Q6PGP7,Q6NUK1,O75844,P21964 8 |
| Short femur 0.588379773334981 1.0628687421436376 0.2878414799847353 1.0 0.7558086334181806 6 Q9BV10,Q9UHX1 2 |
| Abnormal aortic arch morphology 0.5046685529371496 1.0616476875844811 0.2883956561116911 1.0 0.7563592723984383 11 P21964,Q9UHX1 2 |
| Gingivitis 0.6072921625876759 1.0572616671989028 0.2903921826435849 1.0 0.7587542164721758 5 O43826 1 |
| Abnormal ldl cholesterol concentration 0.4742502949354206 1.0548056055415076 0.2915142403870179 1.0 0.7600743578639202 13 Q8N511 1 |
| Metatarsus adductus 0.4658993673689267 1.0546117626553502 0.2916029218967548 1.0 0.7600743578639202 15 Q15392,P50542,Q08J23,O95202,P08236 5 |
| Abnormal circulating sulfur amino acid concentration 0.553133176066346 1.0531449749043649 0.2922745527973125 1.0 0.7605388475716225 8 Q6PGP7 1 |
| Laryngeal dystonia 0.8052709187537916 1.0525764812256817 0.2925351408937968 1.0 0.7607888028644075 3 P04350 1 |
| Cns hypomyelination 0.3826234167431249 1.0487999035972857 0.2942702218631003 1.0 0.7635833366414008 40 O43175,Q9H3H5,P49770,Q8NB90,P35637,Q99720,P04350,Q9Y2B2 8 |
| Abnormal epidermal morphology 0.4445728655451382 1.0480293040634807 0.2946251058314262 1.0 0.7636471352940105 17 P16615,P98194,O75844 3 |
| Abnormal circulating albumin concentration 0.3921391801498524 1.0428159348826922 0.2970335497173169 1.0 0.7664526416812909 30 Q6PGP7,Q5XKP0,O95470,Q9BT22 4 |
| Abnormality of hair texture 0.3522851309058974 1.0407763211360384 0.2979793721092132 1.0 0.7673899940348538 53 O43175,Q96A33,Q15125,Q08J23,P55795,Q9Y487,Q9NVI7,P15586,Q6PGP7,Q6NUK1,P54802,O75844,Q9Y5P4,Q9Y2B2 14 |
| Small placenta 0.8015586882885617 1.0383984671627426 0.2990845829029753 1.0 0.7678376680482872 3 O75844 1 |
| Short umbilical cord 0.8015586882885617 1.0383984671627426 0.2990845829029753 1.0 0.7678376680482872 3 O75844 1 |
| Abnormal bone structure 0.3375645921591438 1.0382268034111952 0.2991644768196972 1.0 0.7678376680482872 178 Q969N2,P21912,P04062,P38435,O95202,Q9Y487,Q86XL3,Q7LG56,Q13510,Q9NZJ7,Q9BV10,Q6NUK1,Q9H3H5,P16930,Q7RTS9,Q9H6U8,P54802,Q9Y619,P07602,Q9UG56,O43175,O14662,O43292,O75718,Q15125,Q13277,Q9Y5Y5,P08236,Q15056,Q14739,O75844,P16278,O75381,Q14108,P40855,Q15392,Q9Y4P3,Q15058,P50542,O43826,Q13126,Q9Y2B2 42 |
| Thoracic scoliosis 0.4860244857496676 1.035902269387276 0.3002477387956563 1.0 0.7695013991936155 12 Q9UHX1,O75844 2 |
| Abnormality of upper limb joint 0.3115979747340521 1.0357353810152374 0.300325611343335 1.0 0.7695013991936155 116 O95202,Q13510,Q9BV10,Q7LGA3,Q969X5,Q7RTS9,P23786,Q8IZA0,P50402,Q9Y619,P07196,P16435,O43175,Q9BUB7,Q15125,Q9H6K4,Q15056,O75844,P42892,Q15392,Q9Y4P3,Q9NR77,P50542,Q9Y2B2 24 |
| Morphological abnormality of the corticospinal tract 0.4628771099798588 1.0349092485444873 0.3007112950568475 1.0 0.7695013991936155 15 Q9Y4P3,P00846,Q12768,Q15056,P35637 5 |
| Talipes calcaneovalgus 0.6019742595523203 1.033124430172328 0.3015456719255636 1.0 0.7707834090568303 5 Q9NR77 1 |
| Recurrent fever 0.4422783778102554 1.0320813567145413 0.3020340066905209 1.0 0.7711790430353224 17 Q13510 1 |
| Abnormal cerebral artery morphology 0.4618381547077065 1.0281351375916716 0.303886264111965 1.0 0.7714693667063304 15 Q9H6U8,Q9NSD9,P38435,P10253 4 |
| Limb joint contracture 0.3246404519076703 1.027040396067341 0.3044014428499122 1.0 0.7714693667063304 103 P21912,Q86XL3,Q7LGA3,Q9H3H5,Q969X5,P23786,Q8IZA0,P50402,Q9Y619,P07196,P35637,P16435,Q99720,O43175,Q9BUB7,O60313,O75844,P42892,Q15392,Q9NR77,P50542,Q8TD16,Q9Y2B2 23 |
| Abnormal lower limb bone morphology 0.3295648092462334 1.0266588162105112 0.3045811482318601 1.0 0.7714693667063304 165 Q10713,Q9UHX1,P04062,Q9NX62,O95202,O00116,Q9Y487,Q13510,Q9NZJ7,Q9BV10,Q8NAT1,P00813,Q96A33,Q7LGA3,Q969X5,Q7RTS9,Q08J23,Q6NUQ1,Q9Y619,P10644,P04066,P16435,Q9Y5P4,P07602,Q7Z4L5,O43175,P06280,O75718,Q15125,Q96PZ0,Q9NQ48,O95831,P08236,Q14739,O75844,P21964,P16278,P13073,Q15392,Q15058,P50542,P40939,Q9Y2B2 43 |
| Limited knee extension 0.7983614393574564 1.0262050927929225 0.3047949213312375 1.0 0.7714693667063304 3 Q7RTS9 1 |
| Abnormal renal echogenicity 0.7979570216336835 1.024663976513441 0.3055217661130425 1.0 0.7714693667063304 3 Q6PML9 1 |
| Ambiguous genitalia male 0.8000614250614353 1.0223042207452704 0.3066369361958641 1.0 0.7731129732659081 2 Q15392 1 |
| Motor seizure 0.3214126681211164 1.0205461203413029 0.3074695277182793 1.0 0.7740541827195555 106 Q96N66,Q9NZ01,Q969N2,P21912,P04062,Q13510,Q9NZJ7,Q5XKP0,Q8NHS3,Q96C86,Q9H3H5,Q08J23,Q9UBB4,Q9Y619,P07602,O43175,O43292,Q8NB90,P00846,P51649,Q9UBX3,Q05086,P16278,P13073,P03886,Q01105,O75503,Q9Y320 28 |
| Recurrent respiratory infections 0.3056736878940196 1.0203359411021526 0.3075691633038155 1.0 0.7740541827195555 120 P04062,Q8N5M9,O95202,Q9Y487,Q13510,P09601,Q9NZJ7,Q9BV10,P00813,P10253,Q13432,Q03518,Q7RTS9,P15586,P54802,P04066,P07602,Q13277,P08236,Q15056,P16278,Q9Y4P3,P50542 23 |
| Subcutaneous nodule 0.4405327289166678 1.019946088322758 0.3077540298109933 1.0 0.7740541827195555 17 Q9NZ08,Q13510,P21912,P35637 4 |
| Retrognathia 0.3364538646283382 1.0193673693201677 0.3080285914457341 1.0 0.7740541827195555 85 Q2TAA5,O43175,Q9BUB7,P53701,Q15392,Q9UHX1,P04062,Q7LGA3,Q96DF8,Q15125,Q96PZ0,Q9H6U8,Q6NUK1,Q8NCH0,Q9Y619,O75844 16 |
| Abnormality of lipoprotein cholesterol concentration 0.4647711255588127 1.0193090916352354 0.3080562491048129 1.0 0.7740541827195555 14 Q8N511 1 |
| Posterior fossa cyst 0.7963133640552965 1.0184033626526117 0.3084863048189166 1.0 0.7740541827195555 3 Q12768,Q9UHX1 2 |
| Narrow mouth 0.340943466608358 1.0183390893596784 0.3085168379654284 1.0 0.7740541827195555 70 Q7LGA3,Q96C86,P04062,Q15392,P07437,Q9NVI7,Q9Y487,Q6PGP7,Q6NUK1,Q9Y619,Q8NCH0,O75844,P16435,P21964 14 |
| Abnormal heart sound 0.6483132473270657 1.0166139623746708 0.3093371094405057 1.0 0.7742587538075048 4 P10253 1 |
| Agitation 0.3865988523940942 1.015387157390906 0.3099213124697224 1.0 0.7742587538075048 31 P42892,Q15165,Q68CQ7,P04062 4 |
| Scleral staphyloma 0.7953917050691217 1.014894857713867 0.3101559497059436 1.0 0.7743850493738031 3 Q969N2,P40939 2 |
| Abnormal muscle fiber alpha dystroglycan 0.7960687960688 1.006326616182761 0.3142584811331117 1.0 0.7780939983953619 2 Q9Y5P6 1 |
| Decreased cervical spine mobility 0.7960687960688 1.006326616182761 0.3142584811331117 1.0 0.7780939983953619 2 Q9Y5P6 1 |
| Fusion of the cerebellar hemispheres 0.7960687960688 1.006326616182761 0.3142584811331117 1.0 0.7780939983953619 2 Q9Y5P6 1 |
| Calf muscle pseudohypertrophy 0.7960687960688 1.006326616182761 0.3142584811331117 1.0 0.7780939983953619 2 Q9Y5P6 1 |
| Abnormality of the tongue muscle 0.7960687960688 1.006326616182761 0.3142584811331117 1.0 0.7780939983953619 2 Q9Y5P6 1 |
| Microdontia 0.3920155795412397 1.0045350228833876 0.3151207987748488 1.0 0.7780939983953619 28 Q96A33,Q7LGA3,Q9Y4P3,Q9Y487,Q6NUK1,Q9Y619,Q9Y2B2 7 |
| Bifid scrotum 0.5956420031353684 1.0044221338871535 0.3151751857687095 1.0 0.7780939983953619 5 P16435,Q96EK5 2 |
| Gliosis 0.3762370570644113 1.0017896231773902 0.3164452100008101 1.0 0.7808125138974099 41 Q10713,P04062,O43819,Q9H9P8,Q9UHD9,P00846,Q7KZN9,P49770 8 |
| Distal amyotrophy 0.3389066298389233 0.9971030720454536 0.3187144820368304 1.0 0.7830689505517023 57 P50570,P21912,Q9NR77,O15269,Q9BQT8,Q9NVI7,Q13510,P07196,Q99720,Q8TD16,Q9BUK6 11 |
| Supernumerary spleens 0.5416557136219504 0.9955518425052154 0.3194679432888745 1.0 0.7840830521369782 8 Q15904 1 |
| Abnormality of the lymphatic system 0.3162978067716415 0.9921274496015676 0.3211353577868454 1.0 0.7860931150907218 146 Q10713,P04062,O95202,Q13510,Q9NZJ7,P00813,P10253,Q96A33,Q9NZ08,P16930,Q6NUQ1,P15586,Q9H6U8,P54802,P04066,P07602,O15118,P10619,Q9BT22,Q15904,P08236,Q14739,P21964,Q14108,Q15392,P50542,Q6PGP7 27 |
| Abnormality of the autonomic nervous system 0.3379996999546783 0.9885752035892734 0.3228710231685123 1.0 0.7873995762904537 56 Q10713,P04062,O15269,Q9NZJ7,O76024,O43681,P42892,Q15067,P07602,P21964 10 |
| Proximal muscle weakness in upper limbs 0.4596390641991885 0.986594727830864 0.3238413558544852 1.0 0.787451844203506 14 P50570,Q9Y5P6,P50402,P07196 4 |
| Abnormal anatomic location of the heart 0.4915016720822966 0.9862313449570288 0.3240196010909948 1.0 0.787451844203506 11 O75844 1 |
| Abnormality of globe size 0.3382185920551869 0.9852136709904212 0.3245191268128777 1.0 0.787451844203506 59 O43175,P53701,Q9UHX1,Q15125,Q15058,P07437,Q6NUK1,Q8NAT1,P21964,Q9BUK6 10 |
| Babinski sign 0.3347237603804281 0.9845746744116228 0.3248330346660186 1.0 0.787451844203506 83 Q969N2,O14773,O60313,P21912,Q9H6K4,O75027,Q9NR77,P00846,Q8WWI5,P40939,Q9NZJ7,P07196,Q99720,O43681,Q15067,P07602 16 |
| Psychosis 0.3933348203705334 0.9838473820881758 0.3251905582985173 1.0 0.787451844203506 26 Q6DKK2,O15118,P03886,P51649,O76024,P00403,P61916 7 |
| Fetal distress 0.3960730388071438 0.9786996908976952 0.3277283848626302 1.0 0.7909269580400846 25 Q9Y6M9,Q8N183,O75306,P03886,Q9NVI7,O96000,Q96CU9,Q86Y39,O43676 9 |
| Abnormality of the achilles tendon 0.458166204631749 0.9772063478467276 0.3284670060097152 1.0 0.791531076229728 14 O60313,Q08J23,P50402,Q9H9S5,Q8TD16 5 |
| Redundant skin 0.3840252306850972 0.972884944780244 0.3306104882812972 1.0 0.7946099934533724 30 Q9Y4P3,P38435,Q9Y487,Q15056,Q6NUK1,Q9BV10,Q8NCH0 7 |
| Pulmonary embolism 0.6374589415478766 0.9705074209362984 0.3317936277151856 1.0 0.7953971909619024 4 Q9NZ08 1 |
| Raynaud phenomenon 0.5685399726432846 0.9700430015039436 0.332025058246326 1.0 0.795483870119695 6 O75844 1 |
| Sideroblastic anemia 0.5123617192194949 0.9686119531746334 0.3327388371924427 1.0 0.7959567424613838 9 O76024,O75027 2 |
| Multiple lipomas 0.5586197304263285 0.9619181213685326 0.3360907350170072 1.0 0.7999699196219169 7 Q8TAA9,Q9BUK6 2 |
| Peroneal muscle atrophy 0.7809187870825722 0.9600095190336778 0.33705042413365 1.0 0.7999699196219169 3 Q9NR77 1 |
| Abnormality of the pubic bone 0.5581618634546901 0.9597449019141788 0.3371836186337433 1.0 0.7999699196219169 7 Q8IZA0,Q7RTS9 2 |
| Cupped ear 0.4732179095275698 0.9594470513222672 0.3373335816070864 1.0 0.7999699196219169 12 P42892,Q15392 2 |
| Abnormality of the extrinsic pathway 0.5661191046142161 0.9587460994131444 0.3376866687205035 1.0 0.7999699196219169 6 P38435 1 |
| Postaxial polydactyly 0.4315762182638711 0.95767177913595 0.338228291563756 1.0 0.7999699196219169 17 Q7Z4L5,Q10713,P98175,Q15125,Q9ULC3,Q9NQ48,Q9BW83,Q14739,Q9UM00 9 |
| Abnormality of the anterior fontanelle 0.3772076518882837 0.9558040104211424 0.3391712618121461 1.0 0.8005757603978374 36 P40855,Q15125,Q9Y5Y5,P50542,Q9Y487,Q9H6U8,Q6NUK1,Q9Y619,P16435,O75381 10 |
| Multiple lentigines 0.633034338005805 0.9517722752972264 0.3412124855726788 1.0 0.8021182172283003 4 P10644 1 |
| Dysphonia 0.3773938614429791 0.9505457288464196 0.3418350297873516 1.0 0.8023124057633467 35 O14662,Q6DKK2,P21912,Q9Y4P3,Q13510,P04350 6 |
| Abnormal gastrointestinal motility 0.3808845440318634 0.9458066268334574 0.3442472249523758 1.0 0.8023124057633467 30 P16930,P00403,Q7LG56,P03886 4 |
| Autoimmune thrombocytopenia 0.5080000253637317 0.9455322521378774 0.3443872131304841 1.0 0.8023124057633467 9 P50851,P00813,Q9H0U3,P40763 4 |
| Abnormal aortic valve physiology 0.373854503747775 0.9423655476117888 0.3460055197476834 1.0 0.802366764540004 38 P16278,Q9NZ08,Q9UHX1,Q15125,P04062,Q9Y4P3,Q6PGP7,Q15056,O75844 9 |
| Abnormality of the optic nerve 0.3679670797314226 0.9386930428523153 0.3478883664405783 1.0 0.8026372234723688 253 Q9P0J0,Q10713,Q9UHX1,O75306,P04062,O43819,Q9HC21,P38435,O95202,Q9NVI7,Q9NZJ7,Q86Y39,Q8NAT1,O76024,Q9H061,Q5XKP0,O43681,P04350,Q8NHS3,P50897,Q9Y6M9,Q9NZ08,Q9NPL8,Q7LGA3,Q9H3H5,Q96S66,Q7KZN9,Q96CU9,P07196,Q96HR9,Q15067,P07602,Q9UG56,O43292,O60313,Q15125,Q9H6K4,Q9H9P8,Q9Y5Y5,P00846,Q13277,Q96PZ0,Q9Y5P6,P51572,P16278,P21964,O43676,O75381,Q9H490,P40855,Q8N183,Q15058,Q8WWI5,P49770,P50542,P03886,O96000,Q12768,P00403,Q15907,Q9BUK6 61 |
| Abnormality of endocrine pancreas physiology 0.5612339061786109 0.9359755410569504 0.349285781052018 1.0 0.8026372234723688 6 P16930,P53985 2 |
| Cerebellar cyst 0.3731120393393841 0.9354316214716564 0.3495659070415566 1.0 0.8026372234723688 38 O43175,Q15125,P07437,Q9Y5P6,Q9NQT5,P23786,Q9Y487,Q8NAT1 8 |
| Wide cranial sutures 0.5525145373003253 0.9329640127764972 0.3508385494511064 1.0 0.8026372234723688 7 O75844 1 |
| Gray matter heterotopia 0.3849827115319245 0.929545589999857 0.3526064100219077 1.0 0.8026372234723688 27 Q2TAA5,Q9BVA1,Q15058,Q86XL3,Q6NUK1 5 |
| Prenatal maternal abnormality 0.4541353141030179 0.9293782313988688 0.3526931051549868 1.0 0.8026372234723688 13 P50416,Q8TAA9,Q14739,P16435,P40939 5 |
| Retinal arteriolar tortuosity 0.4540617584160543 0.9289198873088872 0.3529306056835777 1.0 0.8026372234723688 13 P21964,P00846,Q9Y4P3 3 |
| Abnormal vertebral morphology 0.312299677822785 0.9276030029638972 0.3536135394381106 1.0 0.8026372234723688 109 Q10713,Q9UHX1,Q8TAA9,P04062,O95202,Q9BV10,Q6NUK1,P00813,Q13045,Q7RTS9,Q6NUQ1,P15586,P54802,Q9Y619,P10644,P04066,P16435,O75718,P07237,Q15125,P10619,P08236,Q15056,Q8NCH0,Q14739,P16278,Q14108,Q9Y4P3,Q12768 29 |
| Easy fatigability 0.3864673643563782 0.9273256203371074 0.3537574959854428 1.0 0.8026372234723688 26 P21912,Q9H3H5,Q9Y5P6,Q9BQP7,Q7LG56,Q53H12,P10644,P50570 8 |
| Postaxial hand polydactyly 0.4807364763909708 0.9246299095332132 0.3551584495360125 1.0 0.8042373509571605 11 Q7Z4L5,Q10713,Q9NQ48,Q9BW83,Q14739,Q9UM00 6 |
| Abnormality of adrenal physiology 0.3755799747657989 0.9211692598962222 0.3569620647077394 1.0 0.8049775944625202 32 P40855,Q13423,Q9Y5Y5,O95470,P16435,O75381 6 |
| Abnormal atrioventricular valve morphology 0.3725566997193338 0.9210781529991346 0.3570096254518007 1.0 0.8049775944625202 37 P53701,Q9Y4P3,P04062,P55795,Q9H6U8,Q15056,O75844,P21964 8 |
| Protruding tongue 0.4796388340992034 0.9183550296151808 0.3584330260839703 1.0 0.8073036106245878 11 Q05086,Q10713 2 |
| Vertebral segmentation defect 0.375416733627026 0.9177921795587216 0.3587276772995182 1.0 0.8075738947580197 31 Q9UHX1,Q8TAA9,Q15125,Q9Y4P3,O95202,Q15056,Q9Y619,P16435 8 |
| Abnormal lung development 0.3495121606874095 0.916408349034418 0.3594527579294932 1.0 0.8077788068222044 50 Q969N2,O43175,Q9UHX1,Q8TAA9,Q96DF8,Q9H3H5,O95202,Q9H6U8,Q6NUK1,Q14739,O75844,P21964 12 |
| Abnormality of the basal ganglia 0.328713807765234 0.9162849287792856 0.3595174706834119 1.0 0.8077788068222044 85 Q9P0J0,Q96N66,Q9BVA1,O75306,P04062,O43819,Q8NI60,Q96C86,Q08J23,P23786,Q7KZN9,Q96CU9,Q9H269,O60313,P00846,P16278,Q8N183,Q8WWI5,P03886,P00403 20 |
| Pulmonary fibrosis 0.4046337395443344 0.9158412956860512 0.3597501405779693 1.0 0.8079090092435793 19 P09601,P04062 2 |
| Functional abnormality of male internal genitalia 0.3831919424488705 0.9146429991512722 0.3603790774041555 1.0 0.8082595999473866 27 P16435,Q13423,Q9Y4P3,P04062,Q9H6U8,O76024 6 |
| Abnormality of subcutaneous fat tissue 0.4443684112684807 0.9142336237745752 0.3605940998581893 1.0 0.8082595999473866 15 O43175,O75431,Q9Y487,Q13472,Q6NUK1,O75844 6 |
| Adrenal hypoplasia 0.5479474344467095 0.9113412932743256 0.3621155755223886 1.0 0.8096820218643737 7 O75844 1 |
| Progressive 0.3130878650110078 0.910286206655652 0.3626715908944362 1.0 0.8099287978544397 107 P27544,O60313,P04062,Q99720,Q9UHD9,Q9Y5Y5,P15586,Q7LG56,O95470,Q13510,P54802,Q5XKP0,Q13126,P04350 14 |
| Abnormal lymphocyte morphology 0.3735235691686976 0.9101348178466862 0.362751414436969 1.0 0.8099287978544397 34 Q13432,Q6PGP7,O95470,Q9BV10,P04066,P00813 6 |
| Congenital ichthyosiform erythroderma 0.5745949859124 0.9094406594508816 0.363117567682605 1.0 0.8101328601276983 5 P04062 1 |
| Difficulty standing 0.5745127832850425 0.909071267325006 0.3633125081456927 1.0 0.8101328601276983 5 Q7RTS9 1 |
| Joint contracture of the 5th finger 0.7714987714987787 0.9089653520860992 0.3633684152043352 1.0 0.8101328601276983 2 Q9Y2B2 1 |
| Aplasia hypoplasia of toe 0.3726772762351862 0.9078210666200234 0.3639727662318563 1.0 0.8103654005656162 35 P13073,Q9UHX1,Q7LGA3,Q13510,P00813 5 |
| Dolichocephaly 0.3739422619745321 0.906748371749375 0.3645398773102037 1.0 0.8104001887896068 32 P40855,Q969X5,Q7RTS9,Q9Y5Y5,O95202,O75381 6 |
| Abnormal skin morphology of the palm 0.325173279080866 0.901938346838256 0.3670896195691242 1.0 0.812187093572566 90 P40855,Q06136,Q9UHX1,P21912,Q9H3H5,Q9Y2B2,Q9Y5Y5,P50542,O95202,Q9Y487,P42167,Q6NUK1,Q8NCH0,Q14739,O75381,Q15907,P16615 17 |
| Dysmetric saccades 0.5229417622210895 0.9019185524220832 0.3671001352869081 1.0 0.812187093572566 8 O14773 1 |
| Secondary microcephaly 0.3308008406333273 0.9011951724743764 0.3674845572666398 1.0 0.8122603216065692 75 P00374,Q9UHX1,P49770,Q9HC21,P55795,Q9NQT5,Q9Y487,Q9H6U8,Q9BT22,Q05086,Q96CU9,Q9BV10,Q86Y39,Q5XKP0,Q9Y5P4,P50897 16 |
| Abnormal circulating fatty acid anion concentration 0.4455506942814176 0.8968403710126315 0.3698041022522651 1.0 0.8158273706175925 14 P23786,O75880 2 |
| Renal tubular dysfunction 0.3666109007141046 0.8960540143528728 0.3702239156463571 1.0 0.8163640371715573 40 Q9Y6M9,P40855,Q8N183,P50416,P00403,O75306,O43819,P16930,P03886,O96000,Q7LG56,Q96CU9,Q86Y39,O43676 14 |
| Cutaneous cyst 0.6196181089864498 0.8952153390407955 0.3706719865747208 1.0 0.8165732567515527 4 Q9H488,Q8TAA9 2 |
| Abnormal iris pigmentation 0.3967978486105064 0.8928768020462639 0.3719231513420746 1.0 0.8167833870715993 21 P40855,Q9Y4P3,Q9Y5Y5,P50542,Q05086,Q15056,O75381 7 |
| Lipodystrophy 0.370984878534365 0.8924930489463183 0.3721287168661182 1.0 0.8167833870715993 35 O75431,Q9H3H5,Q9Y487,Q9H6U8,P42167,P31751,P50402,Q6NUK1,P04066,O95817,O75844,P42166 12 |
| Abnormal form of the vertebral bodies 0.3267737808162579 0.8904017983533917 0.3732501770953418 1.0 0.8178241409820481 85 Q10713,Q9UHX1,Q8TAA9,O95202,Q9BV10,Q6NUK1,P00813,Q13045,Q7RTS9,Q6NUQ1,P15586,P54802,Q9Y619,P10644,P04066,P16435,P07237,Q15125,P08236,Q15056,Q14739,P16278,Q9Y4P3,Q12768 24 |
| Abnormal pulmonary thoracic imaging finding 0.3963895110393408 0.8897522912188329 0.3735989091555747 1.0 0.8178241409820481 21 Q13510,P04062 2 |
| Muscle fiber inclusion bodies 0.4612999888754974 0.8883934295259084 0.3743291584634449 1.0 0.8178241409820481 12 O43676,P07196,Q9H3H5 3 |
| Exercise induced myalgia 0.461010898754483 0.8866720539560419 0.3752554883659613 1.0 0.8178241409820481 12 Q7LG56,P23786 2 |
| Abnormal morphology of the abdominal musculature 0.4967624955819788 0.8861820163317625 0.3755194527996766 1.0 0.8178241409820481 9 Q6NUK1,Q8NCH0 2 |
| Increased muscle fatiguability 0.5693345742092084 0.8858317933373573 0.3757081747193322 1.0 0.8178241409820481 5 Q7LG56 1 |
| Choreoathetosis 0.3712258911897325 0.8855903748855961 0.3758383000836618 1.0 0.8178241409820481 33 Q9H6K4,Q5XKP0,P00846,P04350 4 |
| Arthralgia 0.3705647435793939 0.8797171387749538 0.3790125624540503 1.0 0.8212530875293013 33 Q969N2,Q9NZ08,P06280,Q9Y4P3,O95140,O15460,Q13510,Q15056,Q15800,P14174 10 |
| Intellectual disability progressive 0.4592651940809059 0.876280107138311 0.3808777767419506 1.0 0.823750626592507 12 Q9H9P8,Q05086,P53701 3 |
| Scapular winging 0.3799600753608229 0.8737924565917632 0.382231289219952 1.0 0.8252227597792284 26 O60313,Q9H3H5,Q9Y487,P50402,P07196,Q8TD16 6 |
| Angina pectoris 0.7577894220456715 0.873262800025288 0.3825198518625994 1.0 0.8252227597792284 3 O75844 1 |
| Retrocollis 0.757759573923672 0.8731517464907862 0.3825803719633733 1.0 0.8252227597792284 3 Q99720 1 |
| Mutism 0.4418132013739326 0.8730620856769125 0.3826292380983274 1.0 0.8252227597792284 14 Q13510 1 |
| Thickened ribs 0.612426813655693 0.865079392233119 0.3869952147124076 1.0 0.8303785952808227 4 P54802,P15586 2 |
| Leukoencephalopathy 0.322948609710627 0.864327474736522 0.3874080213252124 1.0 0.8307213924005927 89 Q9UHX1,O75306,O95202,Q7LG56,Q9NZJ7,Q86Y39,O43681,Q9Y6M9,P51571,P17900,Q96CU9,P07602,Q9BUB7,O60313,Q9H9P8,Q9Y5P6,O43676,Q8N183,P03886,O96000,O75503,P49770 22 |
| Coronal craniosynostosis 0.5378146594109975 0.8635046823373175 0.3878600461339168 1.0 0.8307213924005927 7 P16435,Q9NX62,Q6NUK1 3 |
| Coxa vara 0.4433193769772848 0.8620506534916269 0.3886596444282391 1.0 0.8307213924005927 13 O75718,Q7RTS9,P50542,Q9Y487,O95831 5 |
| Polycystic kidney dysplasia 0.4176005242814385 0.8605805066479192 0.3894691259355993 1.0 0.8310591778155106 17 Q6PGP7,P50542,P23786,P21964 4 |
| Parkinsonism 0.376605619681681 0.8598608663484673 0.3898657426383638 1.0 0.8311877318442165 27 Q99720,Q9NZJ7,P07602,P04062 4 |
| Increased c peptide level 0.7589066339066438 0.8598188949323955 0.3898888820004553 1.0 0.8311877318442165 2 P40939 1 |
| Broad ribs 0.5632457259427582 0.8585861918492261 0.3905688588761105 1.0 0.8312231211664793 5 Q7RTS9 1 |
| Absent brainstem auditory responses 0.7538059025482455 0.8584641255760458 0.3906362315863374 1.0 0.8312231211664793 3 P07196 1 |
| Eyelid myoclonus 0.4813161514570228 0.8581596809398238 0.3908042961539633 1.0 0.8312231211664793 10 Q13510 1 |
| Diminished movement 0.3895530299310876 0.8568818518487203 0.3915101834528278 1.0 0.8321136573363432 22 Q2TAA5,P13473,Q9H3H5,P04062,Q7LG56 5 |
| Vertical nystagmus 0.7521178027339758 0.8522068356488776 0.3940993033551905 1.0 0.8328679975842783 3 Q9NW15 1 |
| Chordee 0.5350543635448648 0.8505110158138303 0.3950410386065321 1.0 0.8337150901490665 7 P53701 1 |
| Abnormality of lower limb joint 0.3220215535723394 0.8482952272178125 0.3962735749626747 1.0 0.8349329933664431 171 Q969N2,Q9UHX1,P21912,O95202,Q9NQT5,Q9Y487,Q86XL3,Q9NW15,Q13510,Q9NZJ7,Q96A33,Q7LGA3,Q9H3H5,Q969X5,Q7RTS9,Q6NUQ1,P23786,Q9H6U8,Q9Y619,P16435,Q9Y584,P07602,O75718,Q15125,Q9Y5P6,Q05086,P08236,Q15056,O75844,P21964,Q9Y4P3,Q9NR77,Q8TD16,Q9Y2B2 34 |
| Abnormal urine carbohydrate level 0.4541509787880916 0.845866637088208 0.3976271461457306 1.0 0.8349329933664431 12 Q6PGP7,P04066,P10253 3 |
| Abnormality of mouth size 0.2931701176470097 0.8456717721914937 0.3977358744723034 1.0 0.8349329933664431 123 P04062,P07437,Q9Y487,Q9NVI7,Q6NUK1,Q7LGA3,Q96C86,P51571,P15586,Q9H6U8,Q9Y619,P16435,Q9BUB7,Q96PZ0,P55795,Q05086,Q15056,Q8NCH0,O75844,P21964,P16278,Q15392,Q9Y4P3,Q6PGP7,Q9Y2B2 25 |
| Smooth muscle antibody positivity 0.7549140049140043 0.8443587509050886 0.3984689650877075 1.0 0.8349329933664431 2 Q96J02 1 |
| Tetraplegia 0.4370656525773364 0.8428903705242877 0.3992897595374067 1.0 0.8349329933664431 14 O43681,Q13423,P51572 3 |
| Fibrous tissue neoplasm 0.3926140194872312 0.8428023553708027 0.3993389904952384 1.0 0.8349329933664431 20 Q13126,Q15392 2 |
| Proportionate short stature 0.3660056681687262 0.8427263051981646 0.3993815318254032 1.0 0.8349329933664431 34 P53701,Q15392,Q7RTS9,P10619,Q9Y619,P40939 6 |
| Photoreceptor layer loss on macular oct 0.7542997542997578 0.8419858330613648 0.3997958833772612 1.0 0.8349329933664431 2 Q96S66 1 |
| Abnormal optical coherence tomography 0.7542997542997578 0.8419858330613648 0.3997958833772612 1.0 0.8349329933664431 2 Q96S66 1 |
| Abnormal eyelid physiology 0.533079805979816 0.8412271517048214 0.4002206924237141 1.0 0.8349329933664431 7 P04350 1 |
| Abnormality of the foot musculature 0.7533783783783887 0.8384292910842157 0.4017896444410187 1.0 0.8349329933664431 2 P50570 1 |
| Athetosis 0.4236272397544054 0.8373049632089157 0.4024211701564832 1.0 0.8349329933664431 16 Q96CU9,O14949 2 |
| Abnormal cornea morphology 0.313886425161754 0.8362283061508078 0.4030264770767182 1.0 0.8349329933664431 158 Q969N2,P04062,Q96DF8,P07437,O95202,Q9NVI7,Q13510,Q6NUK1,Q8NAT1,Q9NZ08,P51648,Q7LGA3,Q9H3H5,Q03001,P04066,Q96HR9,Q2TAA5,Q06136,Q15125,Q96PZ0,Q9Y5Y5,P10619,Q9Y5P6,P08236,Q15056,Q8NCH0,Q14739,O75844,P21964,O75381,P40855,P53701,Q9Y4P3,P50542,Q53H12,Q9Y2B2 36 |
| Subcutaneous hemorrhage 0.3601996867150112 0.834891603057695 0.4037787430046302 1.0 0.8349329933664431 40 P04062,P38435,Q8NCH0,P21964,Q13126,Q14108 6 |
| Palmar pits 0.7521498771498876 0.8336925755769935 0.404454242937788 1.0 0.8349329933664431 2 P16615 1 |
| Hypermetric saccades 0.7465603555826217 0.8316681559789748 0.4055962797441226 1.0 0.8349329933664431 3 O14773 1 |
| Cutis laxa 0.364262881974602 0.8316479343431893 0.4056076970949989 1.0 0.8349329933664431 35 Q9Y4P3,P38435,Q9Y487,Q15904,Q6NUK1,Q9BV10,Q15056,Q8NCH0 8 |
| Abnormal circulating igm level 0.4227513826140621 0.8314317561701066 0.405729765591349 1.0 0.8349329933664431 16 Q15904,P00813,Q9BV10 3 |
| Abnormality of the wrist 0.3648786223937884 0.827000065697854 0.4082370242437889 1.0 0.8378234984018915 32 Q9H6K4,Q969X5,Q7RTS9,Q13510,Q9BV10,O75844,P16435 7 |
| Abnormal circulating acetylcarnitine concentration 0.5299434910723937 0.8265010783874274 0.4085199065848732 1.0 0.8378234984018915 7 P23786 1 |
| Vertebral hypoplasia 0.4754514784674284 0.8260989210720923 0.4087479796740592 1.0 0.8378234984018915 10 Q8TAA9,Q6NUQ1,Q14739,P10644,P16278 5 |
| Slow saccadic eye movements 0.4631934330079066 0.8245680341559266 0.4096168757014093 1.0 0.838172344550982 11 Q8IV08,P04062 2 |
| Axial muscle weakness 0.5371027471166798 0.8241714927104725 0.4098421224486439 1.0 0.8381733632032418 6 Q9Y5P6,Q8TD16 2 |
| Hypoplasia of the odontoid process 0.5291898391877948 0.8229662510938289 0.4105271856659633 1.0 0.838754128042604 7 Q7RTS9,P08236,P16278 3 |
| Proximal muscle weakness in lower limbs 0.3898547846107359 0.8220088384909854 0.4110718666074755 1.0 0.838754128042604 20 Q16637,Q7LG56,P50402,P07196,P50570 5 |
| Intestinal malrotation 0.370213143761403 0.8210878364163477 0.4115962379432103 1.0 0.838754128042604 28 Q15392,O95202,Q12768,Q9BV10,Q14739,Q8NCH0,P21964 7 |
| Fair hair 0.6008717945934505 0.8169667136518255 0.4139474505963427 1.0 0.8398828484236458 4 Q05086 1 |
| Gastroparesis 0.4830998275593989 0.8143394425921641 0.415450519970387 1.0 0.8418243664956485 9 Q7LG56 1 |
| Hypomimic face 0.4612588082982181 0.8135712908948511 0.4158905901466574 1.0 0.8423469508708471 11 P04062 1 |
| Poor wound healing 0.5528996314958682 0.8125201300560542 0.4164932406072525 1.0 0.8430171946393687 5 P04062 1 |
| Incomplete penetrance 0.368737569204367 0.808698412139901 0.4186886417466695 1.0 0.8446240516502855 28 P00846,P03886,P21912 3 |
| Ovoid vertebral bodies 0.5258702881071501 0.8074152205079274 0.4194273007836995 1.0 0.8446240516502855 7 P54802,P15586 2 |
| Abnormal motor nerve conduction velocity 0.3854429899374549 0.8061032999737099 0.4201832889851893 1.0 0.8446240516502855 21 Q7LG56,P07196,Q9NR77 3 |
| Abnormality of humoral immunity 0.3286506060978231 0.8056638810988469 0.4204366809553037 1.0 0.8446240516502855 54 P04062,Q15904,Q6PGP7,P09601,P00813,Q14108 6 |
| Aplasia hypoplasia of the thymus 0.4188932852282241 0.8055818106657162 0.4204840170157131 1.0 0.8446240516502855 16 Q6PGP7,P00813,P21964 3 |
| Exodeviation 0.374518112641951 0.8041392445658055 0.4213165619561079 1.0 0.8448255778339301 25 Q9UHX1,Q9H3H5,O43819,Q8NB90,Q05086,P40939 6 |
| Abnormal tricuspid valve morphology 0.4468438191809842 0.802509355868212 0.4222583786378058 1.0 0.8462317184901972 12 P21964,P53701 2 |
| Abnormality of neuronal migration 0.302198229385562 0.7997906425152035 0.4238321055140537 1.0 0.8483981194359239 142 Q96N66,Q9NZ01,Q10713,Q9BVA1,Q9HC21,P07437,Q13885,Q9Y487,Q86XL3,Q9BV10,Q6NUK1,Q8NAT1,Q9H9S5,P37268,Q96C86,Q08J23,P23786,Q2TAA5,O43175,Q9Y5Y5,Q9Y5P6,Q16625,O75381,Q9UPN3,P40855,Q15392,Q15058,P50542,Q01105,Q96EK5,Q9Y320,Q12768,Q8TD16 33 |
| Hypoketotic hypoglycemia 0.5021205695442136 0.7984808569779795 0.4245914976856022 1.0 0.8488619403101499 8 P31751,P40939,P50416,P23786 4 |
| Papilloma 0.5238742425608343 0.7980795450482157 0.424824330814008 1.0 0.8488619403101499 7 P16615 1 |
| Neuroinflammation 0.5962417744787222 0.7978083716876104 0.4249817023827849 1.0 0.8488619403101499 4 Q9NZ08 1 |
| Axial dystonia 0.73701996927803 0.7966418744090777 0.4256590505611872 1.0 0.8491427852946135 3 Q99720,P35637 2 |
| Abnormal macrophage morphology 0.5310875725890282 0.7965282154273888 0.4257250824214511 1.0 0.8491427852946135 6 Q13510,O15118,P16278 3 |
| Ectrodactyly 0.4174654685594721 0.7960248202143062 0.4260176091583099 1.0 0.8491427852946135 16 Q9NR77,O95202,P07196 3 |
| Abnormality of chorioretinal pigmentation 0.5491681605104335 0.795985440738578 0.4260404978121763 1.0 0.8491427852946135 5 Q5XKP0 1 |
| Abnormality of the thyroid gland 0.3043430327844388 0.7922577894390992 0.4282103785806184 1.0 0.8503633712078843 108 O76024,Q9BUK6,Q13423,Q9Y4P3,O43826,P21912,P03886,Q6PGP7,Q7LG56,O95470,P00813,P00403,P42892,P21964 14 |
| Abnormal tongue morphology 0.3228177449892839 0.7913907626445676 0.4287159987200575 1.0 0.8503633712078843 69 Q10713,Q96A33,P21912,Q7LGA3,Q9Y4P3,Q9Y5Y5,Q9Y5P6,Q9NQT5,Q05086,Q6NUK1,P04066,P07196,Q15056,O75844,P10253 15 |
| Urinary incontinence 0.3566775159598985 0.7910064365826018 0.4289402354547373 1.0 0.8503633712078843 39 P50570,Q8TAA9,Q8WWI5,Q12768,Q9NZJ7,P07196,P35637,Q99720,O43681,P07602 10 |
| Abnormal arachnoid mater morphology 0.5005473089185479 0.790710212195721 0.4291131154063456 1.0 0.8503633712078843 8 Q15904,Q9UHX1 2 |
| Head banging 0.7404791154791257 0.7890123842943595 0.4301047683341978 1.0 0.8503633712078843 2 Q9H3H5 1 |
| Spina bifida 0.3594321582634747 0.7879828633223157 0.4307067297058931 1.0 0.8503633712078843 35 O43175,Q10713,Q9UHX1,Q8TAA9,Q9Y4P3,Q9HC21,Q9Y5P6,Q15056,P21964 9 |
| Reduced forced vital capacity 0.546564101867818 0.7844739304128118 0.4327620729901724 1.0 0.8513786000015432 5 Q9H9S5,Q9BQT8 2 |
| Exercise induced muscle stiffness 0.7380221130221242 0.7796832085422747 0.4355773648467544 1.0 0.851992273710403 2 P53985 1 |
| Abnormal morphology of the musculature of the neck 0.4235433852459884 0.7788926871555418 0.4360429320691352 1.0 0.8521155036192976 15 Q99720,P04350,P35637,Q9H6U8 4 |
| Abnormality of the protein c anticoagulant pathway 0.5914530351646536 0.7780728715902998 0.4365260546016358 1.0 0.8521155036192976 4 Q9BV10 1 |
| Reduced protein s activity 0.5914530351646534 0.7780728715902975 0.4365260546016372 1.0 0.8521155036192976 4 Q9BV10 1 |
| Headache 0.32155179141608 0.7780722325149464 0.436526431333075 1.0 0.8521155036192976 72 Q969N2,O60313,P21912,Q8TAA9,P04062,P00846,P03886,P23786,Q7LG56,P00403,Q9NQZ5 11 |
| Bull s eye maculopathy 0.7371007371007477 0.7761920223169569 0.4376356157606347 1.0 0.8531311497795846 2 Q8NHS3 1 |
| Writer s cramp 0.7367936117936159 0.7750291830274819 0.4383224154510166 1.0 0.8534352662824344 2 Q9H269 1 |
| Cavum septum pellucidum 0.4418584958685406 0.7730100488033782 0.4395164335987389 1.0 0.8542765821608107 12 Q9BVA1,O95202 2 |
| Achilles tendon contracture 0.4414404810228962 0.7705399974178232 0.4409796384823363 1.0 0.8543858536142488 12 Q08J23,O60313,P50402,Q8TD16 4 |
| Dyskinesia 0.3210420066823376 0.770068667445716 0.4412591609536878 1.0 0.8543858536142488 65 Q9P0J0,Q96N66,O14662,O75306,P04062,O43819,Q96C86,Q08J23,P00846,P03886,Q01105,Q9UBB4,Q9UBX3,Q6PML9 14 |
| Congestive heart failure 0.3210470277334051 0.7695220090586571 0.4415834840719075 1.0 0.8543858536142488 66 Q9BUB7,P21912,O75306,O43819,Q9Y4P3,P07437,Q70HW3,P03886,Q15056,P10644,P16278,P00403,O75880,P40939,P10253 15 |
| Abnormal sella turcica morphology 0.4959775244542514 0.7681830551593372 0.4423784390046397 1.0 0.8543858536142488 8 Q7RTS9,P08236 2 |
| Glucose intolerance 0.303586290452269 0.7672303142749489 0.4429445922691879 1.0 0.8543858536142488 107 O75306,Q8TAA9,Q7LG56,Q86Y39,O76024,Q9Y6M9,Q9NPL8,Q96CU9,P10644,Q96HR9,Q06136,O60313,P00846,Q15056,O75844,O43676,Q8N183,Q9Y4P3,P03886,O96000,P00403 21 |
| Acantholysis 0.5426530589539306 0.7672295494787665 0.4429450469052036 1.0 0.8543858536142488 5 P98194 1 |
| Abnormal pattern of respiration 0.3230324670403925 0.7660712652258472 0.4436338994933044 1.0 0.8544505770152518 182 Q9P0J0,Q969N2,Q10713,Q9UHX1,P04062,Q7LG56,Q13510,Q9NZJ7,Q86Y39,Q15165,O76024,P04350,P10253,Q96A33,Q9H3H5,Q969X5,P51571,P23786,Q03001,Q7KZN9,Q96CU9,Q9Y619,P07602,Q68CQ7,O60313,P00846,O75844,O75880,P22695,P53701,Q9UHD9,P50542,P03886 33 |
| Abnormality of t cell physiology 0.4213664963404152 0.7648047008157901 0.444387848165467 1.0 0.8544505770152518 15 P21964,P00813 2 |
| Pulmonary hypoplasia 0.3649265046745236 0.7629516996105921 0.4454922018170042 1.0 0.8544505770152518 27 O43175,Q8TAA9,Q9H3H5,Q9H6U8,Q6NUK1,Q14739,O75844 7 |
| Ulnar deviation of the wrist 0.5415395816727202 0.7623302931891236 0.4458628981902972 1.0 0.8544505770152518 5 P16435,Q9BV10 2 |
| Abnormal renal insterstitial morphology 0.4241247356498388 0.7609123016783509 0.4467094503621749 1.0 0.8544505770152518 14 Q6PML9,Q9Y4P3,P23786 3 |
| Adrenal hyperplasia 0.7270371880259205 0.7603337639047383 0.4470551045377795 1.0 0.8544505770152518 3 P16435 1 |
| Tubulointerstitial nephritis 0.5228276892282088 0.7587566728865142 0.4479981282572034 1.0 0.8544505770152518 6 P23786 1 |
| Vomiting 0.3099405016937367 0.7575923459268286 0.4486950637188771 1.0 0.8544505770152518 98 Q13423,O75306,Q9NSD9,Q7LG56,Q9NZJ7,Q86Y39,Q9Y6M9,P51571,P23786,Q9H6U8,Q96CU9,Q9Y619,Q9Y584,P07602,Q2TAA5,O43175,Q13277,P00846,Q9NP80,O43676,P22695,P11117,Q8N183,P03886,O96000,P00403,P40939 27 |
| Abnormality of the thymus 0.4025960041474317 0.7567401836005885 0.4492055354650306 1.0 0.8544505770152518 17 Q6PGP7,P00813,P21964 3 |
| Truncus arteriosus 0.4623614351431668 0.7548606528533466 0.450332596726184 1.0 0.8544505770152518 10 Q9UHX1 1 |
| Recurrent pharyngitis 0.7250378659830119 0.7531072564363837 0.4513854642394117 1.0 0.8544505770152518 3 Q9BV10 1 |
| Abnormality of hair pigmentation 0.3759077804624382 0.7513680738299461 0.4524311710982136 1.0 0.8552909792142844 22 Q6PGP7,Q13126 2 |
| Oligosacchariduria 0.5387518745544878 0.7500851972597855 0.4532033942250577 1.0 0.8553714872934455 5 P04066,P10253 2 |
| Ecchymosis 0.437922051796064 0.7497726750826942 0.453391628508268 1.0 0.8553714872934455 12 Q8NCH0,P04062 2 |
| Abnormal pulmonary valve morphology 0.4188552011503972 0.7485720625370659 0.4541151759830499 1.0 0.8560046622963052 15 P21964,Q9BUB7,Q9Y2B2 3 |
| Hyperactive deep tendon reflexes 0.4698707978774022 0.7452564925080398 0.4561166772634597 1.0 0.8560046622963052 9 Q9NR77 1 |
| Short columella 0.7288083538083536 0.7449559542955426 0.4562983472740143 1.0 0.8560046622963052 2 P49711 1 |
| Increased serum pyruvate 0.3537084472229136 0.7411318926643149 0.4586134738218956 1.0 0.8560046622963052 36 Q9Y6M9,Q8N183,Q9NPL8,P21912,O75306,Q70HW3,Q9NP80,P03886,O96000,Q96CU9,Q86Y39,O43676,P22695,Q9BWD1 14 |
| Thoracic hypoplasia 0.3621420736511246 0.7399181541832807 0.4593496581209026 1.0 0.8560046622963052 27 Q96A33,O75718,Q9UHX1,P04062,Q14739,P16435 6 |
| Arrhinencephaly 0.4482180151899085 0.7397265551720174 0.4594659315765965 1.0 0.8560046622963052 11 P21964 1 |
| Genu varum 0.448066895152158 0.7388741382243779 0.459983427638158 1.0 0.8560046622963052 11 Q7RTS9 1 |
| Beaking of vertebral bodies 0.4479526931397047 0.7382300199074101 0.4603746834060573 1.0 0.8560046622963052 11 Q6NUQ1,Q7RTS9,P08236,P04066 4 |
| Aplasia hypoplasia of the scapulae 0.5816349339196023 0.7378858414241335 0.4605838234846902 1.0 0.8560046622963052 4 Q7RTS9 1 |
| Dysphasia 0.3898515560344102 0.7332265837745645 0.4634202440532058 1.0 0.8593555297719976 18 Q9H9P8,P53701 2 |
| Abnormal iliac wing morphology 0.4164571704968071 0.7330927206753617 0.4635018795958827 1.0 0.8593555297719976 15 Q8TAA9,Q7RTS9,P50542,O95831,P16278 5 |
| Bilateral tonic clonic seizure 0.313693237007543 0.7320475064932637 0.464139572128222 1.0 0.8598772096575074 88 P27544,Q969N2,O43175,O43292,P04062,P50542,P00846,P03886,Q8NB90,P51649,Q05086,Q13510,Q9NZJ7,P00403,Q9NQZ5,P07602,Q9Y2B2 17 |
| Abnormal renal pelvis morphology 0.3193145662546585 0.7313689137880643 0.4645538476601696 1.0 0.8599267380226678 55 P40855,P16435,O75718,Q15125,Q9Y5Y5,P50542,P23786,Q9H6U8,Q12768,Q8NCH0,O76024,O75381,Q9Y2B2 13 |
| Abnormality of pelvic girdle bone morphology 0.3022237910344816 0.7310557341988589 0.4647451107105194 1.0 0.8599365313827297 149 Q8TD16,Q9UHX1,Q8TAA9,O95202,Q9NQT5,Q9Y487,Q9NVI7,P00813,Q96A33,Q7LGA3,Q969X5,Q7RTS9,Q6NUQ1,Q9H6U8,Q8IZA0,Q9Y619,P16435,Q9Y584,O75718,Q15125,Q96PZ0,Q9Y5P6,P08236,Q15056,Q14739,O75844,Q9Y4P3,P50542,Q15907,Q9Y2B2 30 |
| Abnormal circulating pyruvate family amino acid concentration 0.3620251894756623 0.7267450310141035 0.4673821622272647 1.0 0.8607881726116438 26 Q9BUB7,P00846,P03886,Q9NP80,Q7LG56,Q99797,O75880,Q5XKP0,P22695 9 |
| Degeneration of the lateral corticospinal tracts 0.5334057980017965 0.7266891161282389 0.467416422293768 1.0 0.8607881726116438 5 P35637 1 |
| Abnormal oral physiology 0.3159290206804601 0.7266866997840215 0.4674179028631533 1.0 0.8607881726116438 56 Q68CQ7,Q9BVA1,Q9UHD9,Q9NR77,P55795,P15586,Q05086,P35637,Q15165 9 |
| Abnormality of the pulmonary veins 0.515695315485697 0.7263388767821346 0.4676310519724254 1.0 0.8607881726116438 6 Q15392 1 |
| Gastritis 0.5149959531744415 0.723170940192621 0.4695748699485422 1.0 0.8626595942161539 6 Q6PGP7,P50851,P49327 3 |
| Abnormal endocrine physiology 0.5319911059590384 0.7205179805571039 0.4712061331008907 1.0 0.8632556099280978 5 Q13423 1 |
| Limb pain 0.4446781651716344 0.7197824797049265 0.4716589338395507 1.0 0.8637429346828049 11 P00846 1 |
| Vertebral fusion 0.4444840772088969 0.7186903901797138 0.4723317056671618 1.0 0.8642903866264173 11 Q9UHX1,Q8TAA9 2 |
| Palmar telangiectasia 0.7211302211302293 0.7163454981694843 0.4737780393876925 1.0 0.8651330217231781 2 Q14739 1 |
| Apraxia 0.316704714040348 0.7161240086397306 0.4739147802821821 1.0 0.8651330217231781 66 Q10713,O43292,Q6DKK2,Q9BVA1,Q7LGA3,P04062,O14773,Q9NQT5,Q05086,Q9Y619,P35637,Q6PML9,Q9Y2B2 13 |
| Weak cry 0.4640277786437421 0.7149390833867356 0.4746466854080373 1.0 0.8657855121604594 9 Q13510 1 |
| Adducted thumb 0.365649115524895 0.7108133455004431 0.4771999095637262 1.0 0.8672008315482921 24 O43175,Q9Y4P3,Q86XL3,Q8NCH0,P42892 5 |
| Erythroderma 0.4835827455192762 0.7074556942810474 0.4792833367383133 1.0 0.8672008315482921 8 P00813 1 |
| Abnormality of bone mineral density 0.2923553725244961 0.7074381972651705 0.4792942066481007 1.0 0.8672008315482921 135 Q969N2,P04062,Q9HC21,O95202,Q9Y487,Q9NSD9,Q7LG56,Q13510,Q9NZJ7,Q9H3H5,P16930,P54802,P10644,P07602,O43175,O14662,P06280,O75718,O43292,P07237,Q15125,Q13277,Q15056,Q14739,O75844,P16278,Q9H490,Q14108,Q15392,Q9Y4P3,O43826,Q13126 32 |
| Excessive salivation 0.3566280326156562 0.7073306650826994 0.4793610132866424 1.0 0.8672008315482921 28 Q05086,Q9BVA1,Q9NR77 3 |
| Primitive reflex 0.5112463257032078 0.7062209755504874 0.4800507280640511 1.0 0.8677695725442426 6 P17900 1 |
| Elevated urinary monocarboxylic acid level 0.711579648894032 0.7048883274775725 0.4808797347341516 1.0 0.8688969911083221 3 P51649 1 |
| Abnormality of ocular smooth pursuit 0.3720967061719611 0.7046143957536487 0.4810502372918046 1.0 0.8688969911083221 21 O14773,Q10713,Q9NW15 3 |
| Skeletal muscle atrophy 0.30974526399064 0.7023886544252417 0.482436818821172 1.0 0.8706113409100592 165 Q9BVA1,P21912,Q6DKK2,O43819,Q9HC21,Q9NQT5,Q9NVI7,Q7LG56,Q13510,Q8NAT1,Q15165,Q9NPL8,Q969X5,P50402,P10644,P07196,P35637,Q99720,O43175,Q68CQ7,P46976,O60313,Q16637,Q9NQ48,Q9Y5P6,P16278,P50570,P50416,P13473,Q9UHD9,Q9NR77,P50542,O15269,Q9BQT8,Q12768,Q13126,Q6P4A7,Q8TD16,Q9BUK6 39 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.3575628673807672 0.7021195624559902 0.4826046034932885 1.0 0.8706113409100592 27 Q9BUB7,P00846,P03886,Q9NP80,Q7LG56,Q99797,O75880,Q5XKP0,P22695 9 |
| Abnormal uvea morphology 0.3046713523355963 0.701590000081483 0.4829348896867129 1.0 0.8706113409100592 100 Q10713,Q9UHX1,P21912,O95202,Q8NAT1,Q5XKP0,Q7LGA3,Q9Y619,Q9Y5Y5,Q9Y5P6,Q05086,Q15056,O75381,P40855,P53701,Q9Y4P3,Q9NR77,P50542,P40939 19 |
| Menorrhagia 0.7106386069660088 0.7015458631379482 0.4829624232851319 1.0 0.8706113409100592 3 O43826 1 |
| Abnormality of the palm 0.2945042801769975 0.6988822111333911 0.484625645414882 1.0 0.8712541840709691 112 P40855,Q06136,Q9UHX1,P21912,Q9H3H5,Q9Y2B2,Q7RTS9,Q9Y5Y5,O95202,P50542,Q9Y487,P42167,Q8NCH0,Q9Y619,P16435,O75381,Q15907,P16615 18 |
| Abnormal muscle fiber protein expression 0.5023976640550334 0.6984869464338794 0.4848727185137114 1.0 0.8712541840709691 7 Q9H9S5,Q9Y5P6,P50402 3 |
| Torsade de pointes 0.7096774193548343 0.6981359645161391 0.4850921684017693 1.0 0.8712541840709691 3 P41227,Q99996 2 |
| Poor gross motor coordination 0.5715517046841578 0.697041866462653 0.4857765934099323 1.0 0.8712541840709691 4 Q9Y5P6,O75503 2 |
| Focal dystonia 0.366345281947031 0.6962284262636819 0.4862857882752225 1.0 0.871544761621949 23 P04350,Q9H6U8,P35637,Q99720,Q9NQZ5 5 |
| Abnormal urinary electrolyte concentration 0.3728204616806256 0.6942009938771294 0.4875561694214441 1.0 0.8727664861410375 20 Q969N2,P05023,Q13423,Q9Y4P3,Q9H6U8 5 |
| Ulnar claw 0.5708166104698981 0.6940826757666054 0.4876303623655471 1.0 0.8727664861410375 4 Q9NR77 1 |
| Abnormal corneal epithelium morphology 0.4098599610224165 0.6906286551490253 0.489798934945163 1.0 0.8741143478141389 15 Q9NZ08,P51648,O75844 3 |
| Distal sensory impairment of all modalities 0.5247092363262909 0.6888947683500919 0.4908894919346105 1.0 0.8747102160715373 5 O15269 1 |
| Macular purpura 0.4126030562107615 0.688398032223175 0.4912021626667968 1.0 0.8749302003741405 14 Q8NCH0,P04062 2 |
| Developmental cataract 0.3183197397087529 0.6870982326386544 0.49202082788331 1.0 0.8755221376039283 54 O76024,P21912,Q9H3H5,P50542,P03886,Q9NVI7,Q99797,Q53H12,Q15800,P00403 10 |
| Meningitis 0.5068328206203937 0.686348945868302 0.4924930907597593 1.0 0.8755221376039283 6 Q9NZ08,O15460,Q8TAA9 3 |
| Purpura 0.3669742657020706 0.6826839450498743 0.4948065768722149 1.0 0.8782926363729772 22 P38435,Q8NCH0,P04062 3 |
| Abnormal umbilicus morphology 0.3132564405828507 0.6812495530395346 0.495713597896918 1.0 0.8782926363729772 61 O43175,Q9BUB7,Q9Y4P3,Q96DF8,P07437,Q9Y487,P08236,Q6NUK1,Q15056,Q8NCH0,O75844,P21964 12 |
| Response to drugs acting on neuromuscular transmission 0.5055365611577882 0.6805294876461588 0.4961692572047522 1.0 0.8782926363729772 6 Q9H3H5 1 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.5055365611577882 0.6805294876461588 0.4961692572047522 1.0 0.8782926363729772 6 Q9H3H5 1 |
| Hyperkinetic movements 0.4485408175795664 0.6802930660868837 0.4963189141095565 1.0 0.8782926363729772 10 P07602 1 |
| Atrioventricular canal defect 0.4980043108315217 0.6783405420968106 0.4975557987000516 1.0 0.8793960402613513 7 Q9UHX1 1 |
| Oral ulcer 0.4567978352701087 0.6776250565646388 0.4980094549152478 1.0 0.8793960402613513 9 O43826,Q9NZ08,P49327 3 |
| Contractures of the large joints 0.7032148863750224 0.6753204071977443 0.4994722212535818 1.0 0.8811749527190241 3 P50542 1 |
| Large for gestational age 0.4767614671734186 0.6743064614151708 0.5001164969614682 1.0 0.881659220312556 8 P50570,Q9Y2B2 2 |
| Abnormality of pancreas physiology 0.3422388837820458 0.6742882750682143 0.5001280568511752 1.0 0.881659220312556 41 Q9UHX1,O43826,P16930,P03886,Q15904,P09601,P00403 7 |
| Abnormal cardiac exercise stress test 0.7094594594594592 0.6734802368611932 0.5006418177503922 1.0 0.8822285690845325 2 Q99996 1 |
| Anophthalmia 0.4471263967489657 0.6727081941939288 0.5011329534871796 1.0 0.8823233562215876 10 P53701,O75569,P41227,Q8NAT1,Q9H9S5 5 |
| Abnormality of the bladder 0.2907808319483939 0.6713122119510512 0.5020216566765556 1.0 0.8826742777146472 114 Q9UHX1,P21912,P04062,Q8TAA9,Q86XL3,Q7LG56,Q9NZJ7,O76024,O43681,P07196,P16435,Q99720,P07602,Q8NCH0,P21964,P50570,Q9Y4P3,Q15058,Q9NR77 19 |
| Convex nasal ridge 0.365468591256227 0.6711505964251375 0.5021245973735873 1.0 0.8826742777146472 22 Q6NUK1,O95202,O75844 3 |
| Preaxial hand polydactyly 0.4758778761752684 0.6700283455169856 0.5028397208242601 1.0 0.8828957173276549 8 Q9UHX1 1 |
| Spinal muscular atrophy 0.4465998566880289 0.6698870688517762 0.5029297836161426 1.0 0.8828957173276549 10 Q99720,Q13510 2 |
| Facial diplegia 0.4119928430189673 0.6686890093151543 0.5036938799317954 1.0 0.8835661990912829 13 Q9H9S5,Q7LG56,O43819 3 |
| Low frustration tolerance 0.4753711955473745 0.6675768496034299 0.5044037393183101 1.0 0.8841405953782661 8 Q9UHX1 1 |
| Central sleep apnea 0.4950569576204471 0.66487529178553 0.5061302604300248 1.0 0.8854181852479563 7 Q96A33 1 |
| J shaped sella turcica 0.5633906219460435 0.6643395882258497 0.5064729887501827 1.0 0.8854181852479563 4 P08236 1 |
| Increased intramyocellular lipid droplets 0.4948265941581103 0.6638246244696595 0.5068025633202216 1.0 0.8856595059685202 7 Q9BUK6 1 |
| Stuttering 0.5186910546974011 0.6629510265335995 0.5073619199055801 1.0 0.8861769831192732 5 P03886 1 |
| Lumbar hyperlordosis 0.368588922303061 0.6626646275764662 0.5075453690214671 1.0 0.8861769831192732 20 O95140,Q9H3H5,Q96J02,Q7RTS9,Q9Y5P6,P04066,Q9H9S5 7 |
| Decreased circulating cortisol level 0.4739333380930007 0.6606269302239964 0.5088515941592417 1.0 0.8861769831192732 8 Q13423 1 |
| Abnormal periventricular white matter morphology 0.3452591718116215 0.6604393219358754 0.5089719452053671 1.0 0.8861769831192732 35 Q9UHX1,O95202,P51571,P17900,O75503,Q9NZJ7,O43681,P07602 8 |
| Adenocarcinoma of the small intestine 0.5623847572218832 0.6603327013140308 0.509040349167484 1.0 0.8861769831192732 4 P43246,P25054,Q6PD74 3 |
| Optic nerve hypoplasia 0.370123537938042 0.6600057421287262 0.5092501444671251 1.0 0.8861769831192732 19 Q9UHX1,Q15058,Q9Y5P6,Q9NVI7,P07196,Q9H9S5 6 |
| Abnormality of the calf musculature 0.3884545781067589 0.6596272931086656 0.5094930350583131 1.0 0.8861769831192732 17 P50570,Q9NR77,Q9Y5P6,Q8NAT1 4 |
| Delayed closure of the anterior fontanelle 0.4225249729088824 0.659476090348943 0.5095900947478693 1.0 0.8861769831192732 12 O75381,Q9Y487 2 |
| Pneumothorax 0.5006882369704025 0.6588354719763878 0.510001426216617 1.0 0.8862257026778042 6 Q8NCH0 1 |
| Cone cone rod dystrophy 0.7048525798525855 0.6567809125170571 0.511321799105958 1.0 0.8867905741162753 2 Q9NQ48 1 |
| Basal ganglia gliosis 0.4524023650185088 0.6550609894622195 0.5124284873419447 1.0 0.8870023055339928 9 P00846,O43819 2 |
| Hyperactive patellar reflex 0.4928893386998465 0.6549993880311935 0.5124681480697639 1.0 0.8870023055339928 7 P13073 1 |
| Elevated circulating aspartate aminotransferase concentration 0.4096026190127962 0.6540994674300594 0.5130477245845122 1.0 0.8871849956913929 13 Q15904,Q9Y5Y5,O75880 3 |
| Unconjugated hyperbilirubinemia 0.6964708187664994 0.6517254368998355 0.5145783100721828 1.0 0.8880233286300886 3 Q9NSD9 1 |
| Single transverse palmar crease 0.3343831654751135 0.6505445477346786 0.5153405361397381 1.0 0.888242270809662 45 P40855,Q9UHX1,Q9H3H5,Q9Y5Y5,O95202,O75381,Q15907 7 |
| Hypoplasia of teeth 0.3683337747749192 0.6468805109260518 0.5177092801076226 1.0 0.8908806266300795 19 P51648 1 |
| Slurred speech 0.4417190583784299 0.6438030253769733 0.5197031716969422 1.0 0.8908806266300795 10 Q9NW15,Q9Y487,P16278 3 |
| Abnormal myelination 0.3294045788924675 0.6419797579250845 0.5208863260945018 1.0 0.8908806266300795 209 Q9P0J0,P21912,O43819,Q7LG56,Q9NZJ7,Q86Y39,Q9BV10,O43681,P04350,P10253,P00374,P51648,Q7LGA3,Q9H3H5,Q9H6U8,Q7KZN9,Q96CU9,P07196,P35637,Q9Y584,Q99720,Q15067,P07602,Q2TAA5,O43175,Q9H9P8,Q9Y5Y5,P00846,Q8NB90,P51572,P51649,Q05086,O43676,P50570,Q9H490,P40855,Q8N183,P49770,Q9NR77,P03886,O15269,P00403,Q15907,Q9Y2B2 44 |
| Aplasia hypoplasia involving bones of the thorax 0.3415575814939653 0.641804211306428 0.5210003149434819 1.0 0.8908806266300795 38 Q7Z4L5,Q9UHX1,Q8TAA9,Q7RTS9,Q12768,Q9BV10,Q9Y619,Q14739,O75844,P16435,Q9Y2B2 11 |
| Urinary urgency 0.489557195288118 0.6398644490711682 0.5222607281917488 1.0 0.8908806266300795 7 Q12768,P04062 2 |
| Abnormal sclera morphology 0.3469150321344136 0.6397485328982802 0.5223360974711073 1.0 0.8908806266300795 29 Q969N2,O75718,P07237,Q9H3H5,Q96EK5,Q8NCH0,P10644,P40939 8 |
| Abnormal circulating protein concentration 0.3001790034482274 0.6393416510340999 0.522600698347617 1.0 0.8908806266300795 155 Q8N511,Q9Y487,Q9NSD9,Q7LG56,Q9BV10,Q8NAT1,Q5XKP0,P10253,Q96D53,Q9H3H5,P16930,Q969X5,Q08J23,P23786,P42167,P50402,P07196,Q9Y584,Q9Y5P6,Q9BT22,O95831,O95470,Q15056,P50570,P50416,Q9Y4P3,P13473,Q8N1F7,Q6PGP7,P53985,P40939,P42166,P14174,Q9BUK6 34 |
| Renal hypoplasia 0.3432693708181069 0.638045997251344 0.5234437383453154 1.0 0.891493129321819 32 Q9Y4P3,Q9UHX1,Q15058,Q6PGP7,P21964 5 |
| Abnormality of prenatal development or birth 0.3433104982379469 0.6376510679244382 0.523700844768688 1.0 0.8916026164250417 239 Q9UHX1,O75306,P04062,Q8TAA9,Q9HC21,O95202,Q9Y487,Q9NVI7,Q9NSD9,Q13510,Q86Y39,Q9BV10,Q6NUK1,Q13045,P61916,Q9Y6M9,Q7LGA3,Q9H3H5,Q969X5,Q70HW3,P23786,Q9H6U8,Q7KZN9,Q96CU9,Q9Y619,P16435,O43175,Q9BUB7,O60313,O15118,Q15125,O75718,Q9Y5Y5,P10619,Q9Y5P6,Q9BT22,P08236,Q15056,Q14739,O75844,P21964,O43676,P50570,O75381,P16278,P40855,Q8N183,P50416,Q9Y4P3,Q15058,P50542,P03886,O96000,Q6PGP7,Q12768,P40939,Q8TD16,Q9Y2B2 58 |
| Short fourth metatarsal 0.6917038190068023 0.6351866214700178 0.525306707667909 1.0 0.8928145967128447 3 Q9NQ48 1 |
| Porokeratosis 0.5556238475722212 0.6335437663734801 0.5263786096472121 1.0 0.8932128545919857 4 Q9H1A4,Q03426,P14324 3 |
| Ureteral duplication 0.4881595725583126 0.6335337159994777 0.5263851705802685 1.0 0.8932128545919857 7 P23786,O75844 2 |
| Aplasia hypoplasia of the phalanges of the toes 0.55543038836676 0.6327809980348175 0.526876667229708 1.0 0.8935168893432783 4 Q9ULC3,Q9Y2B2 2 |
| Abnormal substantia nigra morphology 0.5553138244490018 0.6323215155519782 0.5271768071943583 1.0 0.8935168893432783 4 P04062 1 |
| Decreased facial expression 0.3425031815222438 0.6320759007082785 0.5273372817945083 1.0 0.8935168893432783 31 P04062,Q969X5,Q9Y5P6,Q7LG56,Q05086,Q9H9S5,Q9Y5P4,Q9BUK6 8 |
| Delayed ability to stand 0.5541495885057972 0.627736542686438 0.5301765423939013 1.0 0.8974513862469709 4 P21912 1 |
| Abnormal left ventricular outflow tract morphology 0.4935831988120813 0.6272630542352944 0.5304868171345323 1.0 0.8974513862469709 6 O60566,Q15645,Q9H6U8 3 |
| Arm dystonia 0.553991226892359 0.6271134958521577 0.5305848411907212 1.0 0.8974513862469709 4 Q99720,P35637 2 |
| Macular atrophy 0.4867246235637487 0.6270449401848271 0.5306297772489659 1.0 0.8974513862469709 7 Q9NQ48,P04062 2 |
| Upper limb spasticity 0.4665970146099487 0.6253346701670301 0.531751429699697 1.0 0.8979668212739107 8 Q99720,P35637 2 |
| Abnormality of circulating adrenocorticotropin level 0.486282083731854 0.6250460854762809 0.5319408116239499 1.0 0.8979668212739107 7 P16435,Q13423 2 |
| Agenesis of corpus callosum 0.3077667053766985 0.6245081590113835 0.5322939137352485 1.0 0.8979668212739107 82 O43175,Q10713,P53701,Q9BVA1,Q15392,Q9UHX1,Q7LGA3,Q15058,P03886,O95202,P23786,Q86XL3,Q8NAT1,P00403 14 |
| Aplasia hypoplasia of the cerebellar vermis 0.3087812458019443 0.6232435880363046 0.5331244621700293 1.0 0.8983259503834079 63 O43175,Q10713,Q15125,P07437,Q9Y5P6,Q9Y487,P23786,Q12768,Q6NUK1,Q8NAT1,Q9H490,Q15907 12 |
| Abnormality of muscle size 0.3224274788526367 0.6186927918272328 0.5361187594692125 1.0 0.9005389429763289 198 Q10713,Q9BVA1,P21912,Q6DKK2,O43819,Q9HC21,Q9NQT5,Q9Y487,Q9NVI7,Q7LG56,Q13510,Q8NAT1,Q15165,P10253,Q96A33,Q9NPL8,Q7LGA3,Q969X5,Q9H6U8,P50402,P04066,P10644,P07196,P35637,Q99720,O43175,Q68CQ7,P46976,O60313,Q16637,Q9NQ48,Q9Y5P6,Q05086,Q15056,P16278,P50570,P50416,Q9Y4P3,P13473,Q9UHD9,Q9NR77,P50542,O15269,Q9BQT8,Q12768,Q13126,Q6P4A7,Q8TD16,Q9BUK6 49 |
| Immunologic hypersensitivity 0.3443950356721965 0.6186368099540177 0.5361556466292892 1.0 0.9005389429763289 29 Q9NZ08,P50542,Q08J23,Q9H6U8,P00813,P21964 6 |
| Aortic regurgitation 0.3509349187875872 0.6149149803705504 0.5386108691776841 1.0 0.9010835522867148 25 Q6PGP7,O75844 2 |
| Abnormal endocardium morphology 0.3895877428923479 0.6110541904593336 0.5411637054671281 1.0 0.9020695652775776 16 Q9NZ08,Q9Y4P3,P04062,Q15056,P10644 5 |
| Multiple gastric polyps 0.6919533169533163 0.6107435716996885 0.5413693555772912 1.0 0.9020871712394212 2 P20585 1 |
| Cardiomegaly 0.3387423722061599 0.6055856556891632 0.5447899299224563 1.0 0.9045273378676616 36 P50416,Q9Y4P3,P13473,P04062,P23786,P54802,P04066,Q15056,Q14739,P10253 10 |
| Hand clenching 0.4816919011830746 0.6043789286962259 0.5455917416535137 1.0 0.9048838642058276 7 Q03001 1 |
| Nail dystrophy 0.3440791406944454 0.6031764366359827 0.5463913213924263 1.0 0.9052717513181436 28 Q03001,O75844 2 |
| Abnormality of the knee 0.302258548612458 0.600855279759676 0.5479363812810116 1.0 0.906496539192629 92 Q7LGA3,Q9Y4P3,P21912,Q9H3H5,Q969X5,Q7RTS9,Q9NR77,Q15125,Q9Y5P6,P23786,Q86XL3,P08236,Q13510,Q9Y619,Q15056,P21964,Q8TD16 17 |
| Steppage gait 0.3580322004651631 0.5987036540304059 0.5493705200799537 1.0 0.9075703054125422 21 P05023,Q9NR77,O15269,P07196 4 |
| Hyperreflexia 0.3385893253386378 0.5976666560246812 0.5500623783785548 1.0 0.9075951403116967 234 Q9P0J0,Q96N66,Q10713,Q969N2,Q9BVA1,P21912,O75306,P04062,Q6DKK2,Q9NQT5,Q86XL3,Q9NW15,Q9NZJ7,Q5XKP0,O43681,Q8NI60,Q9NZ08,Q9H3H5,Q7RTS9,Q08J23,P17900,Q9H6U8,Q9UBB4,Q7KZN9,Q96CU9,O14949,Q9Y619,P35637,Q96IX5,Q99720,Q96HR9,Q6IA86,P07602,Q15067,Q2TAA5,O43292,O60313,Q9H6K4,O75208,Q9Y5Y5,P00846,O75027,Q9Y5P6,Q16625,Q05086,Q15056,Q14739,O75381,P13073,P40855,Q8N183,O14773,Q9Y4P3,Q15058,Q8WWI5,Q9NR77,P50542,P03886,Q9BQT8,O75503,Q12768,Q8TD16 62 |
| Short long bone 0.3381402780904857 0.5947155447418647 0.5520336292568109 1.0 0.9075951403116967 34 Q969N2,Q7Z4L5,Q9UHX1,Q7RTS9,Q9NQ48,P50542,O00116,Q9H6U8,Q9BV10,P10644,P16278 11 |
| Cholestasis 0.3067707939008637 0.5927633243539286 0.5533395556538849 1.0 0.9075951403116967 73 P00374,P40855,O15118,Q9H3H5,Q8WWI5,Q6NUQ1,Q9Y5Y5,P50542,P40939,Q15904,Q6PGP7,Q9NSD9,Q13510,Q14739,P10644,O75381,P61916 17 |
| Abnormal shape of the occiput 0.3454967031256286 0.5926581070729957 0.5534099831111454 1.0 0.9075951403116967 26 O43175,Q9BUB7,P40855,Q9Y5Y5,P50542,Q05086,O75381 7 |
| Anencephaly 0.3944880568570219 0.5925625046334461 0.5534739786578271 1.0 0.9075951403116967 15 P21964,Q8TAA9 2 |
| Hypertriglyceridemia 0.3505593766290129 0.592186618032555 0.5537256294390458 1.0 0.9075951403116967 24 Q969N2,O95470,P50402,O43826,P22830 5 |
| Irregular epiphyses 0.4855578562231342 0.5919452820744194 0.5538872299941422 1.0 0.9075951403116967 6 Q7RTS9 1 |
| Abnormal mitochondrial number 0.679064837937712 0.591932958579201 0.5538954825281606 1.0 0.9075951403116967 3 P46976 1 |
| Posteriorly rotated ears 0.2847449851178978 0.5914836568264141 0.5541964023926604 1.0 0.9075951403116967 115 Q10713,Q9UHX1,P04062,P07437,O95202,Q6NUK1,Q8NAT1,Q7LGA3,P23786,Q9H6U8,Q9Y619,P16435,Q9Y5Y5,Q15056,Q8NCH0,O75381,P42892,P40855,Q15392,Q9Y4P3,P50542 21 |
| Retinal detachment 0.3783046174724433 0.5906238492143641 0.5547724815142518 1.0 0.9075951403116967 17 Q9Y5P6,Q9BV10,Q8NCH0,Q8NAT1,Q9H9S5,Q13045,P49327 7 |
| Red green dyschromatopsia 0.6786436138144352 0.5905070753285585 0.5548507436830663 1.0 0.9075951403116967 3 Q9H6K4 1 |
| Abnormal bleeding 0.2918263523623566 0.5899389778756436 0.5552315610864609 1.0 0.9075951403116967 107 O76024,Q9UHX1,O43826,P04062,P16930,P21912,P38435,Q9Y487,P23786,Q4KMQ2,Q8NCH0,O75844,P21964,P50570,Q13126,Q14108 16 |
| Esophageal carcinoma 0.6855036855036857 0.5881488149976959 0.5564324100943132 1.0 0.9075951403116967 2 P25054 1 |
| Macrodontia of permanent maxillary central incisor 0.6848894348894374 0.586012427848849 0.5578671632950012 1.0 0.9075951403116967 2 P49711 1 |
| Hyperacusis 0.4385324141354041 0.5845633320833985 0.5588413691870757 1.0 0.9075951403116967 9 Q15056,Q9Y4P3,P17900 3 |
| Sound sensitivity 0.4385324141354041 0.5845633320833985 0.5588413691870757 1.0 0.9075951403116967 9 Q15056,Q9Y4P3,P17900 3 |
| Bulbous nose 0.3317392581279612 0.5844155302783721 0.5589407805995048 1.0 0.9075951403116967 42 Q96A33,Q96DF8,P23786,P16435,P42892,P21964 6 |
| Genu valgum 0.3369302950124533 0.5840686983524033 0.5591740932774552 1.0 0.9075951403116967 34 Q7LGA3,Q9Y4P3,Q7RTS9,Q9NR77,P08236,Q15056,Q9Y619,P16278 8 |
| Abnormal glomerular filtration rate 0.6765771272486844 0.5835270369416067 0.5595385616459203 1.0 0.9075951403116967 3 O43826 1 |
| Episodic pain 0.4093935089200142 0.5834475246359105 0.5595920728868182 1.0 0.9075951403116967 12 Q13423,P23786 2 |
| Progressive spastic paraplegia 0.3429775714092135 0.5826537707247095 0.5601263999230159 1.0 0.9081432234375968 27 Q9P0J0,Q8N183,P00846,Q7KZN9,Q96CU9,Q12768 6 |
| Sclerocornea 0.4298318228104451 0.5808384308114595 0.5613493512083978 1.0 0.909179263892107 10 P53701,O95202 2 |
| Abnormality of the calcaneus 0.4572504106444307 0.5808203808075029 0.5613615175487598 1.0 0.909179263892107 8 O43175,Q7RTS9,P40939,Q14739 4 |
| Anemia of inadequate production 0.3052134974690123 0.5752783418136884 0.5651030667314507 1.0 0.9130106850336228 66 P00374,O60313,Q9BQT8,Q15904,Q9UBX3,O76024,P22830,Q6P4A7 8 |
| Acute hepatic failure 0.3909835649353345 0.5704194729918773 0.5683932251304769 1.0 0.9164205737283538 15 P16930,Q96J02,Q6NUQ1,O75648,P40939 5 |
| Abnormal circulating carbohydrate concentration 0.3312462539049196 0.5695156800480057 0.5690062327679322 1.0 0.9164205737283538 41 Q9Y6M9,Q8N183,Q9NPL8,P21912,O75306,Q70HW3,Q9NP80,P03886,O96000,Q96CU9,Q86Y39,O43676,P22695,Q9BWD1 14 |
| Glaucoma 0.2948650643916241 0.5694007750255132 0.5690841910007274 1.0 0.9164205737283538 101 Q86XL3,Q7LG56,Q8NAT1,O76024,Q96HR9,Q06136,Q15125,Q9Y5Y5,Q9Y5P6,Q15056,Q8NCH0,P21964,O75381,P40855,P53701,Q9Y4P3,P50542,Q6PGP7,Q53H12 19 |
| Oligomenorrhea 0.5390288875230509 0.5689447055329411 0.5693936652944551 1.0 0.9164205737283538 4 Q15031,P31751,Q9UNE7 3 |
| Renal cyst 0.3042163185280531 0.5680827154407311 0.5699788037430746 1.0 0.9164346611772928 63 Q969N2,Q10713,P40855,Q9UHX1,Q9Y4P3,Q9Y5Y5,P50542,P23786,Q9H6U8,Q6PGP7,P21964,O75381 12 |
| Anterior open bite malocclusion 0.6796683046683052 0.5679652519015616 0.5700585628560517 1.0 0.9164346611772928 2 P21281 1 |
| Shuffling gait 0.416972109841211 0.5658144549276454 0.5715199190764051 1.0 0.9164346611772928 11 O75844 1 |
| Peptic ulcer 0.3928078802785373 0.5654309048107898 0.571780708801144 1.0 0.9164346611772928 14 O76024,Q9Y4P3,P04062 3 |
| Unusual infection by anatomical site 0.3924178504851133 0.5630346192053377 0.5734113104451946 1.0 0.9177549639824212 14 Q9H9P8,Q9BUB7,Q9NZ08,Q8TAA9 4 |
| T lymphocytopenia 0.434088700908132 0.5622345386577458 0.5739562321925451 1.0 0.9180061901713068 9 P00813 1 |
| Hydroureter 0.4050818564821781 0.5587333722442043 0.5763437000701546 1.0 0.9180061901713068 12 O76024,Q7LGA3 2 |
| Periorbital fullness 0.3735641988389451 0.5586574441830819 0.5763955277670485 1.0 0.9180061901713068 17 P07437,Q7LGA3 2 |
| Adult onset 0.3040600090725334 0.5581458017280739 0.5767448268423854 1.0 0.9180061901713068 70 P21912,O15118,P04062,Q9UHD9,P38435,Q8IV08,Q9NZJ7,O76024,Q9NQZ5,P07602 10 |
| Pleuritis 0.6687548364482778 0.5573405044042671 0.5772948065992864 1.0 0.9180061901713068 3 Q9NZ08 1 |
| Orchitis 0.6687548364482778 0.5573405044042671 0.5772948065992864 1.0 0.9180061901713068 3 Q9NZ08 1 |
| Limitation of joint mobility 0.2911839712826742 0.5570021604197446 0.5775259531159886 1.0 0.9180061901713068 105 Q8TAA9,O76024,P51648,Q7LGA3,Q969X5,Q7RTS9,P23786,P15586,Q03001,P50402,P54802,P16435,Q9H6K4,Q9BT22,Q05086,P08236,Q15056,O75844,Q9Y4P3,Q8TD16 20 |
| Mildly elevated creatine kinase 0.3481814021391264 0.5559833902157839 0.578222209534216 1.0 0.9187970779677712 23 P50570,P40939,Q9BUK6 3 |
| Kyphoscoliosis 0.3037776220502027 0.5509932409586547 0.5816383079661 1.0 0.9210066856603668 55 Q9NR77,P04350,Q8NCH0,O75844 4 |
| Nephrolithiasis 0.3450465440523784 0.5493124825289841 0.5827910224911155 1.0 0.9210066856603668 24 Q9Y4P3,Q4J6C6,Q9H6U8,Q15056,Q8NCH0,O43826 6 |
| Distal upper limb amyotrophy 0.3918647546744422 0.5469527064824116 0.5844112240061072 1.0 0.9229226433757648 13 Q9NR77,Q9BQT8 2 |
| Epistaxis 0.3793759361904063 0.5444562443058939 0.5861275507240484 1.0 0.92491922880102 16 O43826,P38435,P04062 3 |
| Abnormality iris morphology 0.3019938755205706 0.5431357825329243 0.5870363173521875 1.0 0.9251724374357584 80 P40855,Q10713,P53701,Q7LGA3,Q9UHX1,Q9Y4P3,P21912,Q9NR77,Q9Y5Y5,O95202,P50542,Q9Y5P6,Q05086,Q15056,Q8NAT1,O75381 16 |
| Spontaneous hemolytic crises 0.6716830466830483 0.5407648096027412 0.5886697011460764 1.0 0.9262064252730164 2 P06744 1 |
| High myopia 0.4486366901142009 0.5403025672062408 0.58898838824113 1.0 0.9262064252730164 8 O15460,Q9Y487 2 |
| Wide intermamillary distance 0.3457917604971059 0.5377477465857342 0.5907512110774609 1.0 0.9262064252730164 23 P07437,Q9Y5P4,P23786,Q9H6U8 4 |
| Slowly progressive 0.3001054770944896 0.5362274732337761 0.5918013483461702 1.0 0.9262064252730164 57 Q9P0J0,P05023,O14773,P50570,P46976,Q9H3H5,Q16637,Q9NR77,O95831,Q8IV08,P50402,P07196,Q99720 13 |
| Wide nasal ridge 0.5304240934234814 0.5361703390846428 0.5918408307859311 1.0 0.9262064252730164 4 P61978,P27635,Q15022 3 |
| Opisthotonus 0.3384407858554186 0.5361176406675001 0.5918772489942528 1.0 0.9262064252730164 26 Q2TAA5,O60313,P04062,Q9NZJ7,P35637,Q99720,P11117,P07602 8 |
| Abnormal femoral neck head morphology 0.3213986218406242 0.535804927295351 0.5920933764750669 1.0 0.9262064252730164 46 Q96A33,O75718,Q7LGA3,Q7RTS9,Q6NUQ1,P50542,Q9Y487,P04066,Q9Y619,Q14739,O75844 11 |
| Generalized abnormality of skin 0.3290844971735656 0.5340193499071069 0.5933281466804368 1.0 0.9264511411166548 222 Q969N2,P21912,P49257,P04062,P38435,Q9Y487,Q6NUK1,P00813,P00374,P51648,Q9H3H5,Q6NUQ1,Q8IZA0,P04066,P22830,O43175,Q06136,O15118,Q15125,Q9Y5Y5,P00846,P10619,Q15904,Q15056,Q8NCH0,Q14739,O75844,P21964,O75381,P98194,Q14108,P40855,P53701,Q9Y4P3,O43826,Q8WWI5,P50542,P03886,O15269,Q6PGP7,P00403,Q13126,Q9Y2B2 43 |
| Limited elbow movement 0.330694646787229 0.5334871596513091 0.5936963971827924 1.0 0.9265110160557652 36 Q7LGA3,Q9H6K4,Q969X5,Q7RTS9,P23786 5 |
| Tinnitus 0.3894957114152245 0.5328190010448136 0.5941588794017545 1.0 0.926737426655064 13 O95831,Q9NR77,Q9NR28,P21912 4 |
| Myalgia 0.3176630901863053 0.5319188501805657 0.5947822010425372 1.0 0.9269541279476547 48 Q9NZ08,O60313,P23786,Q7LG56,P21964,P50570,P40939,Q9BUK6 8 |
| Increased hepatic glycogen content 0.4715988967952665 0.5315042635859542 0.5950693875678188 1.0 0.9270892345396208 6 O43826,Q93100 2 |
| Head titubation 0.4713811436689299 0.5305723281255442 0.5957151756148278 1.0 0.9275981374834724 6 Q99720 1 |
| Foot dorsiflexor weakness 0.3307827922567497 0.5298024844850621 0.5962488824639927 1.0 0.9275981374834724 33 P05023,P46976,O43819,Q9NR77,O15269,Q9BQT8,Q7LG56,Q14739,P07196,Q99720 10 |
| Joint dislocation 0.2983180466700389 0.5291613347422782 0.5966935363193939 1.0 0.9275981374834724 89 Q96A33,Q9UHX1,Q9Y4P3,Q15125,Q969X5,Q9Y5P6,O95202,P51571,Q9Y487,Q9NQT5,Q9H6U8,Q8NCH0,Q9Y619,O75844,P21964,Q8TD16,Q9Y2B2 17 |
| Abnormality of the ankles 0.3234467949067764 0.5276976963089355 0.5977091724236088 1.0 0.9275981374834724 44 Q9Y4P3,Q969X5,Q7RTS9,Q05086,Q9NW15,Q9NZJ7,O75844,P07602 8 |
| Neurogenic bladder 0.4643690779045238 0.5275809314672778 0.5977902307549929 1.0 0.9275981374834724 7 Q8TAA9 1 |
| Exaggerated startle response 0.4192901370541937 0.5257907331735692 0.5990336138415757 1.0 0.928871299302515 10 P16278,P17900,P06865 3 |
| Limited elbow extension 0.3990933690353885 0.5246463098588348 0.5998290873091068 1.0 0.928871299302515 12 Q9H6K4,Q7RTS9 2 |
| High hypermetropia 0.4087564274994898 0.5211114437210108 0.6022891394375345 1.0 0.9317178834560258 11 P68371 1 |
| Abnormal facial expression 0.3292752078479817 0.5208471054556548 0.6024732853662451 1.0 0.9317178834560258 36 P04062,Q9NR77,Q05086,Q7LG56,P50570,Q9BUK6 6 |
| Contractures of the joints of the lower limbs 0.2983541237556991 0.5194744696880875 0.6034299118881332 1.0 0.9325735001907512 56 O60313,P21912,Q7LGA3,Q9H3H5,Q969X5,Q9HC21,Q9Y5P6,P23786,Q86XL3,Q8IZA0,P50402,P35637,Q99720,Q8TD16 14 |
| Difficulty climbing stairs 0.3592851905894691 0.5182029917961815 0.6043166476005015 1.0 0.9326969888199996 18 O95140,Q9H3H5,Q9Y5P6,Q7LG56,P40939 5 |
| Loss of ability to walk 0.3823646246770176 0.5163788516277988 0.6055898334883572 1.0 0.933478400461378 15 P21912,P00846,Q9Y5P6,Q7LG56,Q9H269 5 |
| Dark urine 0.664004914004916 0.5150907043411641 0.6064896381247611 1.0 0.933478400461378 2 P36551 1 |
| Inflammation of the large intestine 0.3844453727058498 0.5143286548745039 0.6070222308811866 1.0 0.933478400461378 14 Q6PGP7,O43826 2 |
| Pectus excavatum 0.2999037768446542 0.5138397073207022 0.6073640639787707 1.0 0.933478400461378 79 Q969N2,Q96A33,O75718,Q9UHX1,Q7LGA3,P04062,Q9Y4P3,P21912,Q9Y2B2,P07437,Q9Y487,P50402,Q15056,Q8NCH0,Q9BUK6 15 |
| Congenital muscular dystrophy 0.6554153514021573 0.5135935915638422 0.6075361609715078 1.0 0.933478400461378 3 Q9Y5P6 1 |
| Abnormal urine cytology 0.3268072296505594 0.512381969866128 0.6083837071774127 1.0 0.933478400461378 39 P06280,P21912,P49257,P04062,Q9H6U8,P09601,P10644,O43826,Q14108 9 |
| Odontogenic neoplasm 0.6630835380835396 0.5120426438208022 0.6086211648414639 1.0 0.933478400461378 2 P25054 1 |
| Hammertoe 0.3665900085157461 0.5119891511143648 0.6086586023769582 1.0 0.933478400461378 17 Q9NR77,P07196 2 |
| Increased adipose tissue 0.5231119434933897 0.5087495775065427 0.610927766642126 1.0 0.9342606696587842 4 P31751 1 |
| Abnormal t cell morphology 0.3832293334363351 0.5069489052654668 0.612190669824493 1.0 0.9342606696587842 14 P00813 1 |
| Aspiration pneumonia 0.3370113171785354 0.5051851367227499 0.6134288087348507 1.0 0.9342606696587842 25 Q6NUK1,Q13510,P04062 3 |
| Short palpebral fissure 0.3332538619110262 0.5041073526489882 0.6141859403662457 1.0 0.9344631334338116 27 P07437,Q9UHX1,O75844 3 |
| Skeletal myopathy 0.4802876345992544 0.502522830409088 0.615299797029311 1.0 0.9344631334338116 5 P40939 1 |
| Impaired tactile sensation 0.440080096549996 0.5005987801813432 0.6166535211048025 1.0 0.9348871742913466 8 Q9NR77 1 |
| Abnormal cervical spine morphology 0.479586614716 0.4996925844240836 0.6172915548156412 1.0 0.9355477382718864 5 Q8NCH0 1 |
| Impairment of activities of daily living 0.301802611252616 0.4990735354084437 0.6177275805955602 1.0 0.9356926806150596 54 P50570,Q8TAA9,O15269,Q9NZJ7,P07196,P21964,Q99720,O43681,P07602 9 |
| Abnormality of mouth shape 0.2989468017358498 0.4989822313626952 0.6177919017988271 1.0 0.9356926806150596 66 Q969N2,Q10713,Q96A33,Q15125,P04062,Q96DF8,Q96PZ0,O95202,Q86XL3,Q03001,P04350,Q9H490,Q13045,Q9Y2B2 14 |
| Hemorrhage of the eye 0.4039577991540717 0.4952581039673662 0.6204179405955255 1.0 0.9387475645660044 11 Q9Y487 1 |
| Redundant neck skin 0.4380664151216175 0.4913411689922286 0.6231851665331694 1.0 0.939498494892782 8 Q9Y487,O96000 2 |
| Abnormal male reproductive system physiology 0.3262398861450338 0.4907048047939123 0.6236352476769533 1.0 0.939498494892782 33 P16435,Q13423,Q9Y4P3,P04062,Q9H6U8,O76024 6 |
| Megaloblastic anemia 0.4378731257045529 0.4904543583718421 0.6238124194083596 1.0 0.939498494892782 8 P00374,O76024 2 |
| Muscle weakness 0.3555248280485452 0.4901662708293783 0.6240162462755505 1.0 0.939498494892782 291 Q9P0J0,Q10713,Q6DKK2,Q9UHX1,P21912,Q9BUF5,O43819,Q9NQT5,Q7LG56,Q13510,Q9NZJ7,Q86Y39,Q15165,Q6NUK1,Q5XKP0,Q8NAT1,O43681,Q8NI60,P10253,P00374,P05023,Q9H3H5,Q969X5,Q7RTS9,Q70HW3,P17900,P23786,Q96CU9,P50402,P07196,P35637,Q99720,Q15067,P07602,Q68CQ7,O60313,Q9Y5Y5,P00846,Q9Y5P6,Q9NP80,Q8NCH0,Q14739,O43676,P50570,O75381,P13073,P40855,Q8N183,P13473,Q9UHD9,Q9NR77,P50542,P03886,O15269,Q9BQT8,P40939,O96000,Q53H12,P00403,Q13126,Q8TD16,Q9BUK6 62 |
| Epiretinal membrane 0.6479452824670946 0.4896319377499272 0.6243943722708298 1.0 0.9395377733095728 3 P04439 1 |
| Impaired antigen specific response 0.4191305282370925 0.4881701687669298 0.625429312622833 1.0 0.9400737753890092 9 P50851,P00813,Q9H0U3,Q9BV10 4 |
| Overriding aorta 0.4109391993895894 0.4828090875746291 0.6292312976741363 1.0 0.9414819444687568 10 P53701,Q9Y4P3 2 |
| Lower limb muscle weakness 0.3210912292847243 0.4827289445806532 0.6292882086459923 1.0 0.9414819444687568 42 O43819,Q969X5,Q9NR77,Q9Y5P6,P00846,Q13510,P07196,P40939 8 |
| Peripheral pulmonary artery stenosis 0.40156377518578 0.4824371185697251 0.6294954581135941 1.0 0.9414819444687568 11 Q6PGP7,Q9Y4P3,Q9Y2B2 3 |
| Abnormal response to endocrine stimulation test 0.645650749421316 0.4823533307748867 0.6295549680573953 1.0 0.9414819444687568 3 Q13423 1 |
| Patchy changes of bone mineral density 0.6453462708262345 0.4813904239682551 0.6302390413040904 1.0 0.9421216616796422 3 Q13126 1 |
| Abnormal enzyme coenzyme activity 0.3114113623208434 0.4811776705246049 0.6303902295062311 1.0 0.9421216616796422 193 Q8N511,Q969N2,Q10713,P04062,Q7LG56,Q9NW15,Q13510,Q9NZJ7,Q9BV10,Q8NAT1,P00813,Q5XKP0,P10253,Q96A33,Q9H3H5,P16930,Q6NUQ1,P23786,Q9Y619,Q15067,P07602,Q2TAA5,O15118,Q9Y5Y5,P00846,P10619,Q14566,P51649,Q15904,Q14739,O75880,P16278,P22695,P40855,P03886,O43826,P40939,Q9Y2B2 38 |
| Unsteady gait 0.3158670851260849 0.4803509402620546 0.6309778726967272 1.0 0.9422430336972748 46 Q10713,Q9H6K4,Q9NR77,O75503,P07196,P49770,Q15907 7 |
| Chronic neutropenia 0.453120906341886 0.4788851016537875 0.6320203702867433 1.0 0.9422430336972748 7 O43826 1 |
| Aphasia 0.3212497612451673 0.4753554928250114 0.6345336119240144 1.0 0.944346128592418 41 P53701,Q7LGA3,Q9H9P8,P03886,P00403 5 |
| Thin skin 0.3394358401511344 0.4747001955995099 0.6350006785050009 1.0 0.9447371741979164 22 Q13126,O75844 2 |
| Infectious encephalitis 0.4091130068237 0.4734920122177032 0.635862198457116 1.0 0.945328787391578 10 Q9H9P8,Q9BUB7,Q9NZ08 3 |
| Metatarsus valgus 0.6427516492864846 0.4732133116709171 0.636061001613238 1.0 0.945328787391578 3 Q8NAT1 1 |
| Poor motor coordination 0.3793544249840458 0.4728920244737011 0.6362902152887027 1.0 0.945328787391578 13 Q10713,Q9Y5P6,O95140,O75503 4 |
| Hypoglycemic coma 0.4159588859831613 0.4727093897432641 0.6364205266327816 1.0 0.945328787391578 9 Q13423 1 |
| Proximal amyotrophy 0.3679708376290646 0.4711679901031328 0.637520775467693 1.0 0.9460164609725332 16 O14979,Q9BTV4,Q16637,Q9BQP7,P50402,P07196,P35637,Q9H9S5 8 |
| Jaundice 0.2941489566397229 0.4704109802791739 0.638061420802194 1.0 0.9460164609725332 56 P00374,P40855,O15118,Q9H3H5,Q8WWI5,Q6NUQ1,Q9Y5Y5,P50542,Q15904,Q6PGP7,Q14739,P10644,O75381,P61916 14 |
| Abnormality of the proximal phalanx of the thumb 0.6417818740399328 0.4701701292754885 0.6382334734536088 1.0 0.9460164609725332 3 Q9ULC3,Q15233 2 |
| Abnormal abdomen morphology 0.3241948460697009 0.4700551653519643 0.6383156051544774 1.0 0.9460164609725332 220 Q10713,O75306,P04062,Q9HC21,Q9NVI7,Q9NSD9,Q13510,P09601,Q9NZJ7,Q86Y39,P00813,P61916,P10253,Q9Y6M9,P00374,Q96A33,Q9NPL8,Q9NZ08,Q9H3H5,P16930,Q6NUQ1,P23786,P15586,Q9H6U8,Q96CU9,P54802,Q9Y619,P10644,P04066,Q15067,P07602,Q9BUB7,O15118,Q9Y5Y5,P00846,P10619,Q9BT22,Q15904,P08236,Q14739,O75880,P21964,O43676,P16278,O75381,Q14108,P40855,Q8N183,P50416,Q15392,P50542,P03886,O96000,Q6PGP7,O43826,P40939 56 |
| Diaphyseal thickening 0.6413315083621216 0.4687593186961138 0.6392416813929129 1.0 0.9468991328992502 3 P08236 1 |
| Skin erosion 0.4325690213659418 0.4662469338666333 0.6410387580919703 1.0 0.9468991328992502 8 O75844 1 |
| Pelvic kidney 0.4071521171280641 0.4635226360940898 0.642989793421795 1.0 0.9468991328992502 10 Q9Y4P3,Q9UHX1 2 |
| Muscle fiber tubular inclusions 0.4551944761090406 0.4623562315621006 0.6438258810197324 1.0 0.9468991328992502 6 Q9H3H5 1 |
| Abnormality of dental color 0.6383396039645381 0.4594267361654915 0.6459277523853428 1.0 0.9493864993737524 3 P16278 1 |
| Bilateral talipes equinovarus 0.4540528207283673 0.4576292464853154 0.64721882796159 1.0 0.9495750489757776 6 Q15392 1 |
| Abnormality of the adrenal glands 0.3004278976587846 0.4570947803707735 0.6476029218271122 1.0 0.9495750489757776 53 P40855,Q13423,P21912,Q9Y5Y5,O95470,O75844,P16435,O75381 8 |
| Bowing of the legs 0.3064329602914613 0.4535776119607012 0.6501328703350593 1.0 0.9513336684902892 50 O75718,Q7LGA3,Q9Y4P3,Q7RTS9,Q9NR77,P08236,Q15056,Q9Y619,P16278,P16435,Q13126 11 |
| Obstructive sleep apnea 0.3859570775471936 0.450996989528477 0.6519917187199469 1.0 0.9534224160471342 12 Q96A33 1 |
| Gastroesophageal reflux 0.2725766576516546 0.4506126596689926 0.6522687408349164 1.0 0.9534224160471342 128 Q969N2,Q9UHX1,O95202,Q9NSD9,Q7LG56,Q9NZJ7,Q9BV10,Q6NUK1,Q96A33,P51571,Q9H6U8,Q8IZA0,Q9Y619,P16435,Q9Y584,P07602,O43175,P00846,P55795,Q15056,Q14739,P21964,Q9Y4P3,O15269,Q12768 25 |
| Abnormality of the phalanges of the hallux 0.635347955696387 0.4501651276230629 0.6525913790792901 1.0 0.9534224160471342 3 P49711 1 |
| Abnormal drinking behavior 0.5070347381198936 0.44999257940333 0.6527157912351278 1.0 0.9534224160471342 4 O76024 1 |
| Aganglionic megacolon 0.3404328601732296 0.4458924935909119 0.6556749047427255 1.0 0.95581360640932 19 P21964,Q10713,P42892 3 |
| Urinary bladder sphincter dysfunction 0.4451279270864028 0.4449308552192986 0.6563697236895976 1.0 0.9560837428025292 7 Q9NR77 1 |
| Low set posteriorly rotated ears 0.2948334007088062 0.4447775620434223 0.656480511115491 1.0 0.9560837428025292 76 P40855,Q10713,Q9Y4P3,Q15392,P04062,Q9Y5Y5,P07437,O95202,P50542,Q9H6U8,Q6NUK1,Q8NCH0,P16435,O75381 14 |
| Symphalangism of middle phalanx of finger 0.6415847665847696 0.4430515935650279 0.6577284169340296 1.0 0.9567412225088564 2 Q15233 1 |
| Abnormal involuntary eye movements 0.3507024459218796 0.4419343272337167 0.6585367294821047 1.0 0.957570389033098 286 Q9P0J0,Q969N2,Q10713,Q6DKK2,P21912,P04062,O43819,O95202,Q9NQT5,Q9NVI7,Q9NW15,Q13510,Q9NZJ7,Q86Y39,Q6NUK1,O76024,Q9H061,Q5XKP0,P04350,Q7LGA3,Q9H3H5,P17900,Q7KZN9,Q96CU9,P07196,P35637,Q99720,Q96HR9,Q15067,P07602,O43175,O14662,O43292,O60313,Q15125,Q9H6K4,Q9H9P8,Q9Y5Y5,P00846,O75027,Q9BT22,Q13277,Q8NB90,Q9Y5P6,Q96PZ0,Q05086,Q15056,O43676,O75381,Q9H490,P40855,Q8N183,O14773,Q15392,Q9Y4P3,Q9NR77,P50542,P03886,O75503,Q8IV08,Q53H12,Q15907 62 |
| Stage 5 chronic kidney disease 0.3227890790381491 0.4404131208164276 0.6596379236057475 1.0 0.9588700907742774 29 Q7Z4L5,Q96D53,Q9NQ48,P23786,Q9H6U8,O95470,O43826 7 |
| Chorioretinal coloboma 0.4496856041485538 0.4396578789509344 0.6601849138992004 1.0 0.9589166747980038 6 Q10713 1 |
| Hyperkeratotic papule 0.6403562653562689 0.4392387042374566 0.660488583129629 1.0 0.9589166747980038 2 Q9H488 1 |
| Polydactyly 0.3142977146527389 0.4387323548844804 0.6608554801987503 1.0 0.9589166747980038 44 Q7Z4L5,Q10713,Q9UHX1,Q15125,O95202,Q12768,Q14739,P21964,Q15067,Q13045 10 |
| Short thorax 0.4640329487785907 0.4379962246306771 0.6613890202188615 1.0 0.9593045261894654 5 Q7RTS9 1 |
| Complete duplication of phalanx of hand 0.4636368148729974 0.436453918294448 0.6625074263814548 1.0 0.9606253808679356 5 P34897,P41227 2 |
| Esodeviation 0.3188743824361031 0.4351874683913093 0.663426357960585 1.0 0.9610537215569376 38 Q969N2,Q9UHX1,P04062,P50542,Q9NVI7,Q9H6U8,Q7LG56,Q9Y2B2 8 |
| Abnormality of the calf 0.2915646706726824 0.4324712887796629 0.6653989151593072 1.0 0.9620570023617262 58 O75718,Q7LGA3,Q9Y4P3,Q7RTS9,Q9NR77,P08236,Q9BV10,Q9Y619,Q15056,P16278,P16435,Q13126 12 |
| Abdominal pain 0.2922965441136331 0.4314266299642285 0.6661581903466078 1.0 0.9620570023617262 85 Q969N2,P06280,Q13423,Q9Y4P3,Q96D53,P04062,P21912,Q9NZ08,Q14566,Q70HW3,Q8N1F7,P23786,Q7LG56,Q15056,P10644,P35637,P42892,Q14108 18 |
| Bilateral single transverse palmar creases 0.3704638104695161 0.4303892557948708 0.6669125096407673 1.0 0.9620570023617262 14 P40855,Q9Y5Y5,O75381 3 |
| Aplasia hypoplasia of the ribs 0.3294932213072777 0.4302512378452567 0.6670128938218256 1.0 0.9620570023617262 24 Q7Z4L5,Q9UHX1,Q8TAA9,Q12768,Q9BV10,Q9Y619,Q14739 7 |
| Respiratory arrest 0.4245640795164495 0.430207384956481 0.6670447904598236 1.0 0.9620570023617262 8 P13473,P23786 2 |
| Aplasia hypoplasia of the lungs 0.319179599454594 0.4299265717987846 0.6672490557049873 1.0 0.9620570023617262 34 O43175,Q8TAA9,Q9H3H5,O95202,O96000,Q9H6U8,Q6NUK1,Q14739,O75844 9 |
| Aplasia hypoplasia affecting the eye 0.2879745209730354 0.4296533108267808 0.6674478511194675 1.0 0.9620570023617262 96 O43175,P53701,Q9UHX1,Q7LGA3,Q9Y4P3,P21912,Q15125,Q15058,P07437,O95202,Q9Y5P6,Q9NVI7,Q6NUK1,Q8NAT1,P07196,P21964 16 |
| Elevated urinary carboxylic acid 0.4412987024520717 0.4288727969879734 0.6680157978967807 1.0 0.9622757163472628 7 P51649 1 |
| Gingival bleeding 0.3813862132084484 0.4257850584780795 0.6702644753965852 1.0 0.9626803180676544 12 P49257,Q14108,P04062 3 |
| Ambiguous genitalia 0.3307313775499549 0.4244115424957706 0.6712657043141788 1.0 0.9626803180676544 23 P16435,P53701,Q15392,Q8TAA9 4 |
| Bulbar palsy 0.3993242873206295 0.424106554235929 0.6714881057587347 1.0 0.9626803180676544 10 O43681 1 |
| Episodic tachypnea 0.4401411988258591 0.4240466220376436 0.6715318124874581 1.0 0.9626803180676544 7 Q10713 1 |
| Goiter 0.3989645745114195 0.4223106544117343 0.6727982823974039 1.0 0.9626803180676544 10 Q7LG56 1 |
| Diplopia 0.3369429364890505 0.4213861724727152 0.6734731146132189 1.0 0.9626803180676544 19 O14773,P04062 2 |
| Gait imbalance 0.3301581656088501 0.4201607155239944 0.6743680508957719 1.0 0.9626803180676544 23 Q05086,Q7LG56,Q9Y4P3,Q9NR77 4 |
| Focal tonic seizure 0.6339066339066376 0.4194638085883821 0.6748771992027833 1.0 0.9626803180676544 2 Q00577 1 |
| Overlapping toe 0.3319206026652851 0.4194262693908229 0.6749046289264906 1.0 0.9626803180676544 22 Q96A33,Q9UHX1,Q15907 3 |
| Scarring 0.3176454603813609 0.4192849768223367 0.6750078746458292 1.0 0.9626803180676544 32 Q03001,Q92542,Q8NCH0,Q15125 4 |
| Abnormal diaphysis morphology 0.2923417245489148 0.4191889969897317 0.6750780127990041 1.0 0.9626803180676544 66 O14662,O75718,Q7LGA3,Q9Y4P3,Q7RTS9,Q9NR77,Q9Y487,P08236,Q15056,Q9Y619,Q14739,P16278,P16435,Q13126 14 |
| Scleroderma 0.4443419434194405 0.4179170077462268 0.6760077970502769 1.0 0.9626803180676544 6 P06132,Q9Y2U8,P28340,Q14739,Q14191 5 |
| Abnormal platelet volume 0.4384728804245694 0.4171139402370431 0.6765950688950579 1.0 0.9626803180676544 7 Q6PGP7 1 |
| Aplasia hypoplasia of the sacrum 0.6240153893140208 0.4157412672585729 0.6775993405185545 1.0 0.9626803180676544 3 Q8TAA9 1 |
| Prolonged bleeding following procedure 0.6237341037052828 0.4149005062587929 0.6782147392104831 1.0 0.9626803180676544 3 O43826 1 |
| Hepatic cysts 0.4968423161734717 0.4139448841057492 0.6789144717168298 1.0 0.9626803180676544 4 Q9H6U8 1 |
| Osteomyelitis 0.3789133746214903 0.4122449349764555 0.6801599046064877 1.0 0.9635598648591908 12 Q13126 1 |
| Limb dystonia 0.3667751133564468 0.4086118161138367 0.6828245578508878 1.0 0.9664465122444156 14 Q99720,Q8NB90,P04350,P35637 4 |
| Abnormality of the odontoid process 0.4194288542448577 0.4074251574926965 0.6836957528321468 1.0 0.966791792384051 8 Q7RTS9,P08236,P16278 3 |
| Pes cavus 0.2821913926409959 0.4042333676544939 0.6860411187579976 1.0 0.9676770015975824 103 Q10713,P04062,Q9NW15,Q8NI60,P05023,Q7LGA3,P07196,Q99720,O60313,Q9H6K4,Q96PZ0,Q14739,P50570,P13473,Q9NR77,P50542,O15269,P40939,Q15907,Q9BUK6 20 |
| Deposits immunoreactive to beta amyloid protein 0.6277641277641326 0.4010193574785057 0.6884058721115567 1.0 0.9685754835822542 2 O96008 1 |
| Finger agnosia 0.6277641277641326 0.4010193574785057 0.6884058721115567 1.0 0.9685754835822542 2 O96008 1 |
| Aplasia hypoplasia of the uterus 0.3493907112681712 0.3991868613970354 0.6897555234579567 1.0 0.9685754835822542 17 P53701 1 |
| Hypoplastic iliac wing 0.6180240748035523 0.3979813716005946 0.6906439173181169 1.0 0.9685754835822542 3 Q7RTS9 1 |
| Encephalopathy 0.2796937501402461 0.3972256073884594 0.6912011003554273 1.0 0.9685754835822542 106 O75306,P04062,Q9NVI7,Q9NZJ7,Q86Y39,Q9Y6M9,Q9H3H5,Q6NUQ1,P23786,Q9H6U8,Q7KZN9,Q96CU9,Q9Y619,Q15067,P07602,Q9BUB7,O43676,Q8N183,P50416,P03886,O96000,P00403,P40939 23 |
| Pedal edema 0.4336252388701173 0.3971301533235071 0.6912714852482269 1.0 0.9685754835822542 7 Q14108 1 |
| Overlapping fingers 0.3999150624386814 0.3960318308926173 0.6920815462820396 1.0 0.9685754835822542 9 Q9BV10,Q15125 2 |
| Shallow orbits 0.3934564956225237 0.3949910340719408 0.6928495048895078 1.0 0.9685754835822542 10 O75844,P07237,Q9H6U8 3 |
| Mild microcephaly 0.4386038709104701 0.3948926782839603 0.69292209367979 1.0 0.9685754835822542 6 Q05086 1 |
| Hip dislocation 0.2892086744696301 0.3945513980758132 0.6931739880324597 1.0 0.9685754835822542 61 Q96A33,Q9UHX1,Q969X5,O95202,Q9NQT5,Q9Y487,Q9H6U8,O75844,Q8TD16,Q9Y2B2 10 |
| Poor suck 0.3170678225547368 0.3943321579855709 0.693335824104079 1.0 0.9685754835822542 29 O43819,P50542,Q05086,P22695,P40939 5 |
| Biventricular hypertrophy 0.6166621217247946 0.3939881119767686 0.693589816145143 1.0 0.9686376653141472 3 Q9BV10 1 |
| Abnormal renal physiology 0.2908714977426436 0.392970216487278 0.6943414792417881 1.0 0.9689348025784302 165 Q10713,P21912,O75306,P04062,Q8TAA9,P49257,O43819,Q7LG56,P09601,Q86Y39,P00813,O76024,Q9Y6M9,P05023,Q9NZ08,Q9NPL8,Q96D53,P16930,P23786,Q9H6U8,Q96CU9,P10644,Q7Z4L5,P06280,Q13277,Q9NQ48,Q9BT22,O95470,Q15056,Q8NCH0,O43676,Q6PML9,Q14108,P40855,Q8N183,P50416,Q9Y4P3,O43826,P03886,O96000,P00403 41 |
| Emg myopathic abnormalities 0.3144630770910843 0.392789345579479 0.6944750745236743 1.0 0.9689348025784302 32 P46976,P13473,Q7LG56,P50402,P07196,P50570,Q9BUK6 7 |
| Ectopic kidney 0.3483469836961558 0.3924658506428963 0.6947140387571733 1.0 0.9689348025784302 17 Q9Y4P3,Q8TAA9,Q9UHX1 3 |
| Blue irides 0.3927789629091895 0.3916545686708503 0.695313462459926 1.0 0.9689962177259488 10 Q05086,Q15056,Q9Y4P3 3 |
| Micropenis 0.2894242308160895 0.3912315623367779 0.6956260804472567 1.0 0.96913979993616 63 Q10713,P53701,Q9NVI7,O95470,Q9BV10,P46977,Q9Y619,P42892 8 |
| Impaired t cell function 0.3841067729306169 0.3907205815642118 0.6960037839320936 1.0 0.969274808034736 11 P21964 1 |
| Decreased circulating antibody level 0.3118779577833189 0.3884549343611193 0.6976793978467812 1.0 0.969709932054566 41 P00813,Q6PGP7,P09601,Q15904 4 |
| Hypogonadotropic hypogonadism 0.3183925529879362 0.3865389872377913 0.6990975342985313 1.0 0.9705654662019088 27 P00403,Q7LG56,P03886 3 |
| Abnormality of the periorbital region 0.2892451044343311 0.3865283151074785 0.6991054364907374 1.0 0.9705654662019088 64 P40855,Q7LGA3,Q96D53,Q9Y4P3,Q9Y5Y5,P07437,P50542,Q6PGP7,Q6NUK1,Q15056,P16435,O75381 12 |
| Abnormal scapula morphology 0.2893596136258125 0.3862400137864394 0.6993189218957945 1.0 0.9705654662019088 55 O60313,Q9H3H5,Q7RTS9,Q9Y5P6,Q9Y487,P50402,Q9Y619,P07196,P16435,Q8TD16 10 |
| Abnormal femoral head morphology 0.3318607284814344 0.3860269864225572 0.6994766826595644 1.0 0.9705654662019088 19 Q7LGA3,Q7RTS9,Q6NUQ1,P50542,P16278 5 |
| Micromelia 0.3255083066384058 0.3858767452775448 0.6995879539037548 1.0 0.9705654662019088 23 O43175,O75718,Q9UHX1,Q15392,Q14739,P10644 6 |
| Abnormality of circulating glucocorticoid level 0.3829759500924011 0.3848988709612548 0.7003123424271205 1.0 0.9712790256097796 11 P16435,Q13423 2 |
| Stenosis of the external auditory canal 0.4304049441297402 0.3839914847422478 0.7009847587995686 1.0 0.971628754403239 7 O95202 1 |
| Premature loss of teeth 0.3734740196710101 0.3827239962423813 0.7019244202713504 1.0 0.9723306838904848 12 O75844 1 |
| Chronic sinusitis 0.6125524572739989 0.3820393208686353 0.7024321989005298 1.0 0.9723306838904848 3 Q03518 1 |
| Vertebral compression fracture 0.3619455235216773 0.3803632272320469 0.7036758073719933 1.0 0.9723306838904848 14 Q14108 1 |
| Abnormality of the ureter 0.2892435159516805 0.3785361545542052 0.7050323408748362 1.0 0.9731550878224604 68 Q969N2,P16435,P21912,Q9UHX1,Q8TAA9,Q7LGA3,Q9Y4P3,Q15058,Q9Y2B2,P23786,Q9H6U8,Q86XL3,O75844,O76024,P21964 15 |
| Retinal atrophy 0.312090474064578 0.3762453460665173 0.7067345065677131 1.0 0.9732526951920436 31 Q10713,P51648,P04062 3 |
| Lower extremity joint dislocation 0.2891536416490277 0.3751451803368599 0.7075524974984384 1.0 0.9732526951920436 78 Q96A33,Q9UHX1,Q9Y4P3,Q15125,Q969X5,Q9Y5P6,O95202,Q9NQT5,Q9Y487,Q9H6U8,O75844,P21964,Q8TD16,Q9Y2B2 14 |
| Mask like facies 0.3610447245274519 0.3751293644606254 0.7075642593211304 1.0 0.9732526951920436 14 P04062 1 |
| Abnormal atrioventricular valve physiology 0.298829341322388 0.3740304555464019 0.7083816577262625 1.0 0.9732526951920436 50 Q9NZ08,P53701,Q9Y4P3,O75306,P04062,O43819,Q9H6U8,Q15904,Q6NUK1,Q15056,P10644,O75844,P40939 13 |
| Cerebellar cortical atrophy 0.6182432432432476 0.3732091554800649 0.7089927825760818 1.0 0.9732526951920436 2 Q9Y263 1 |
| Titubation 0.4114317431563513 0.3725163994755717 0.709508404172432 1.0 0.9732526951920436 8 Q99720 1 |
| Finger swelling 0.6179361179361227 0.3723282302883465 0.7096484823875411 1.0 0.9732526951920436 2 Q01968 1 |
| Hepatoblastoma 0.3798940397731775 0.3691143016620891 0.7120425293113297 1.0 0.9751905994592582 11 Q6PGP7 1 |
| Recurrent tonsillitis 0.6164004914004961 0.3679390441931043 0.7129186861972394 1.0 0.9755951479656813 2 Q13546 1 |
| Agenesis of maxillary incisor 0.616400491400496 0.3679390441931037 0.7129186861972399 1.0 0.9755951479656813 2 P41227 1 |
| Abnormality of the abdominal wall 0.2705643841269067 0.367269537141656 0.713417974590608 1.0 0.9757008916021802 115 Q10713,Q9UHX1,Q96DF8,P07437,Q9Y487,Q6NUK1,P16930,Q9H6U8,P04066,O43175,Q9BUB7,P08236,Q15056,Q8NCH0,Q14739,O75844,P21964,P16278,Q9Y4P3,Q6PGP7 20 |
| Upslanted palpebral fissure 0.2878601886902985 0.3652711726404687 0.7149089948350649 1.0 0.9765846948647976 82 P40855,Q9UHX1,Q7LGA3,Q15125,Q15058,Q9Y5Y5,P07437,P50542,Q9NVI7,Q86XL3,P21964,O75381,Q15907,Q9Y2B2 14 |
| Patchy hypopigmentation of hair 0.4442053489087145 0.3627792264848252 0.716769811100328 1.0 0.9775701815074532 5 Q9UM00,P49327,Q14191,P12955 4 |
| Cerebellar malformation 0.2860327177013455 0.3608079305743857 0.718243033866377 1.0 0.9775701815074532 60 O43175,Q9Y4P3,Q8TAA9,Q15125,P07437,Q9Y5P6,Q9NQT5,Q9Y487,P23786,Q15056,Q8NAT1,P16435 12 |
| Hypoplasia of the iris 0.4238018044436229 0.3574092831941297 0.7207854281172512 1.0 0.9779482607471988 7 Q7LGA3 1 |
| Bifid uvula 0.3103491462377457 0.3568700103943028 0.7211891215815096 1.0 0.9779482607471988 37 Q15392,Q15058,Q9H6U8,Q6PGP7,Q9Y619,Q8NAT1,Q9Y2B2 7 |
| Hyperpigmentation of the skin 0.2851905056235684 0.3526600734523252 0.7243432952619975 1.0 0.9788321510939256 89 P53701,P51648,Q13423,P04062,Q7LGA3,P07437,Q6PGP7,O75844,P16615 9 |
| Rapidly progressive 0.3678191864106651 0.3524432696344654 0.72450585656576 1.0 0.9788321510939256 12 Q14108 1 |
| Flaring of rib cage 0.6019136582568508 0.3518309987914144 0.7249650093838413 1.0 0.9788321510939256 3 Q7RTS9 1 |
| Hyperinsulinemic hypoglycemia 0.4223398122374784 0.3515913455052737 0.725144756599915 1.0 0.9788321510939256 7 P53985 1 |
| Subcapsular cataract 0.4056068734083254 0.3475588486783895 0.728171515637448 1.0 0.978981343376268 8 Q9H6K4 1 |
| Hand muscle weakness 0.3666446134351855 0.3462092165388282 0.7291854887419493 1.0 0.9793734098148292 12 Q9NR77,P07196 2 |
| Postural instability 0.3477796481139218 0.3452025779089039 0.7299420808616512 1.0 0.9797538989562484 16 Q9NR77,P04062 2 |
| Aplasia hypoplasia of metatarsal bones 0.4045897267587576 0.3432434730559604 0.731415302247362 1.0 0.9806042897085564 8 Q7RTS9,Q9NQ48,P10644 3 |
| Craniofacial dysostosis 0.4386324798927347 0.3424215460037901 0.7320336760940762 1.0 0.9808530044216194 5 Q6NUK1 1 |
| Impaired distal proprioception 0.475414874001232 0.3416143492384244 0.7326411370766515 1.0 0.9812448310765988 4 P54098,O14802,Q96RR1 3 |
| Vascular neoplasm 0.3083053197496059 0.3380429450052882 0.7353308252968911 1.0 0.982656171192587 34 P21912,Q9UHX1,Q7LGA3,P10619,O95202,P50570 6 |
| Pulmonary artery stenosis 0.3397605366450094 0.3378124284750491 0.7355045433601954 1.0 0.982656171192587 17 Q6PGP7,Q9Y4P3,Q9Y2B2 3 |
| Abnormality of the elbow 0.2829045399104494 0.3364730543289209 0.7365141677968396 1.0 0.983436763468838 57 Q7LGA3,Q9H6K4,Q969X5,Q7RTS9,P23786,Q13510,Q9Y619,P16435 8 |
| Moderate global developmental delay 0.386099594207707 0.3323693145843062 0.7396104061822422 1.0 0.9851245165911756 9 O43175,Q9BUB7,P21912 3 |
| Abnormal circulating sex hormone concentration 0.3315678549214557 0.3316309517484775 0.7401679448912812 1.0 0.9851245165911756 18 P16435,Q13423 2 |
| Increased connective tissue 0.4017491936926931 0.3312617528988474 0.7404467786303413 1.0 0.9851245165911756 8 O95831,P31751,P07196 3 |
| Abnormal femoral neck morphology 0.3070772962501595 0.3309081830597313 0.7407138406848308 1.0 0.9851245165911756 38 P16278,Q96A33,O75718,Q7RTS9,P50542,Q9Y487,O95831,P04066,Q9Y619,O75844 10 |
| Supraventricular arrhythmia 0.3225355363838111 0.3308027247131299 0.7407935026332997 1.0 0.9851245165911756 20 P00846 1 |
| Bone spicule pigmentation of the retina 0.401559237799991 0.3304642030851387 0.7410492365160537 1.0 0.9851245165911756 8 Q96S66,Q9NQ48,Q9UG56 3 |
| Cerebral visual impairment 0.2850851533105958 0.3304567891330199 0.7410548376564774 1.0 0.9851245165911756 67 Q969N2,Q9NZ01,Q96A33,Q96N66,O43175,Q96C86,Q8NB90,Q08J23,P03886,Q01105,Q7LG56,Q96CU9,P00403,Q9Y5P4,Q9H490 15 |
| Abnormal muscle fiber type distribution 0.3543694328609161 0.3302717634303508 0.7411946265131193 1.0 0.9851245165911756 13 P50570,Q9H3H5 2 |
| Neonatal death 0.3509304265887942 0.3261161951584235 0.7443364443095462 1.0 0.9873240730026795 15 Q6NUK1,Q14739,Q9NVI7,P04062 4 |
| Increased density of long bones 0.5919030297521812 0.3244008756414431 0.7456345568932956 1.0 0.987912375666074 3 Q13126 1 |
| Abnormal atrioventricular conduction 0.3440079212580056 0.322336608105463 0.7471977026102723 1.0 0.988850079241528 16 Q7LG56,P50402,P21912 3 |
| Shield chest 0.4196589599544709 0.3214810206795457 0.7478458928664731 1.0 0.9892423409586776 6 Q7RTS9 1 |
| Hypoplasia of the frontal lobes 0.3993877527994416 0.3213806071809418 0.7479219775068202 1.0 0.9892423409586776 8 Q86XL3 1 |
| Muscle fiber atrophy 0.3183082956826788 0.311152917460657 0.7556843739999164 1.0 0.9927575136415014 21 Q99720,P50402,P23786 3 |
| Aplasia hypoplasia of the femur 0.3481943528039154 0.3102093912976411 0.7564017293453598 1.0 0.993354614170106 15 Q9UHX1,P50542,O00116,O95831,Q9BV10,Q96HY6 6 |
| Abnormal lateral ventricle morphology 0.3049876180941965 0.3083610083035604 0.7578076481616742 1.0 0.9934968729726688 30 Q9BVA1 1 |
| Restless legs 0.5844958541488807 0.3047533018737612 0.7605540503055235 1.0 0.9939044266049886 3 P07196 1 |
| Abnormality of the gingiva 0.2952771864312562 0.3047209285433911 0.7605787085483637 1.0 0.9939044266049886 48 P49257,Q9Y4P3,P04062,Q15392,P08236,Q15056,Q14739,O43826,Q14108 9 |
| Bicornuate uterus 0.4151291512915197 0.3045756134444279 0.760689395708273 1.0 0.9939044266049886 6 Q9NVI1,Q9BXW9,Q15031,Q9H6U8,Q15427 5 |
| Mild short stature 0.5842730619270315 0.3041711182244574 0.7609975273153928 1.0 0.9940261486741176 3 Q14739 1 |
| Akinesia 0.3796786757146991 0.3036417408114923 0.7614008474806799 1.0 0.9942721035726249 9 P04062 1 |
| Stomach cancer 0.3662609815403848 0.3008465194517317 0.7635315332735777 1.0 0.9960949059612856 11 Q15645,P20585,O43683,P10644,O60566 5 |
| Functional abnormality of the inner ear 0.324717924263748 0.299998037946462 0.7641786522291605 1.0 0.9962114710763006 244 P21912,O75306,P04062,O95202,Q7LG56,Q13510,Q9NZJ7,Q86Y39,O60443,Q9BV10,Q9H061,Q5XKP0,O43681,O76024,O00165,Q9Y6M9,Q9NR28,Q9NPL8,Q7LGA3,Q9NZ08,P42167,Q96CU9,P10644,P07196,P35637,Q9NSV4,Q96HR9,Q15067,P07602,Q9UG56,Q2TAA5,P06280,O60313,Q15125,Q96PZ0,Q9Y5Y5,P00846,Q8NB90,Q9NP80,Q9Y5P6,P51572,Q15904,O95470,Q15056,O75844,O43676,O75381,P42892,P40855,Q8N183,Q9Y4P3,Q9NR77,P50542,P03886,O15269,O96000,P00403 57 |
| Short nose 0.279393877519192 0.2988168202796568 0.7650798162611703 1.0 0.9966107159053744 94 Q969N2,Q9UHX1,P04062,Q9NX62,P38435,Q9Y487,Q9NVI7,Q6NUK1,Q13045,Q96C86,Q9H6U8,P16435,Q15056,Q8NCH0,O75844,P42892,Q9H490,Q15392,Q9Y4P3,Q12768 20 |
| Pneumonia 0.2897178153334411 0.2983094647782623 0.7654669811248302 1.0 0.9966107159053744 51 P00813,Q13432,Q13510,P04062 4 |
| Abnormality of circulating enzyme level 0.2754293071930636 0.2979542538214366 0.7657380788044565 1.0 0.9966107159053744 102 P50570,Q9Y4P3,P10253,Q9H3H5,P50416,Q969X5,Q9Y5P6,P23786,P42167,Q7LG56,P50402,Q15056,Q8NAT1,P07196,Q9Y584,P53985,P40939,Q9BUK6 18 |
| Thoracolumbar kyphosis 0.4127987549132477 0.2959832614423193 0.7672428644200087 1.0 0.997396659257813 6 P04062 1 |
| Abnormal venous morphology 0.306101034943122 0.2923658300205211 0.7700069311263917 1.0 0.999301725941183 27 P21964,Q9Y487,P04062 3 |
| Colitis 0.3644301682578705 0.2918882063282075 0.7703721010207041 1.0 0.9994440011519496 11 Q6PGP7 1 |
| Dental crowding 0.3120607908000754 0.2890014981755613 0.7725802310764152 1.0 0.9995553968934928 23 O75844 1 |
| Cerebral calcification 0.3009507307147789 0.286585195434111 0.7744299514867385 1.0 1.0 31 O43175,O60313,P03886,P23786,Q9NSD9,P00403 6 |
| Abnormality of taste sensation 0.585995085995092 0.2865814437007236 0.7744328245006371 1.0 1.0 2 O95163 1 |
| Broad foot 0.3699279317742968 0.2826285360989059 0.7774616031696855 1.0 1.0 10 O95831,O43175,Q7RTS9 3 |
| Abnormality of the musculature of the thigh 0.3891112088180553 0.2792668499245213 0.7800400445397688 1.0 1.0 8 P50402,O14979,P07196 3 |
| Abnormal lumbar spine morphology 0.3738364902363157 0.2780257126173279 0.7809926207690934 1.0 1.0 9 P04062 1 |
| Regional abnormality of skin 0.2657413741959305 0.277692255215507 0.7812486063100212 1.0 1.0 134 Q9UHX1,P21912,O95202,Q9Y487,Q6NUK1,Q7LGA3,Q9H3H5,Q969X5,P42167,O43175,Q06136,Q96PZ0,Q9Y5Y5,P55795,Q15056,Q8NCH0,Q14739,O75381,P16615,P40855,Q9Y4P3,P50542,Q15907,Q9Y2B2 24 |
| Abnormal cartilage morphology 0.3533454794512523 0.2770899044516015 0.7817110735249206 1.0 1.0 12 Q7LGA3,Q9UHX1 2 |
| Anteverted ears 0.5813882063882132 0.2752195017515451 0.7831476050687258 1.0 1.0 2 O15347 1 |
| Inguinal hernia 0.28107067939026 0.2734930431700282 0.7844742393219626 1.0 1.0 77 O43175,Q10713,Q9BUB7,Q9UHX1,Q9Y4P3,Q96DF8,P07437,Q9Y487,Q6PGP7,Q12768,P08236,Q15056,Q8NCH0,P16278,P21964 15 |
| Acne 0.3525776042570525 0.2731870715047259 0.7847094175751677 1.0 1.0 12 P21964,Q92542 2 |
| Low levels of vitamin d 0.3677678606619985 0.2727130734181633 0.7850737843751672 1.0 1.0 10 O43826 1 |
| Abnormal uvula morphology 0.2990481580845543 0.2724600801726207 0.7852682819540102 1.0 1.0 41 Q15392,Q15058,Q9H6U8,Q6PGP7,Q9Y619,Q8NAT1,Q9Y2B2 7 |
| Lambdoidal craniosynostosis 0.4514389310295479 0.2669999614557083 0.7894691907673406 1.0 1.0 4 P16435,Q9ULC3 2 |
| Hemoptysis 0.4501284192878817 0.2631332274067783 0.79244789431323 1.0 1.0 4 Q9NZ08 1 |
| Hydrops fetalis 0.2923300400766658 0.2624717417046895 0.7929577687160361 1.0 1.0 47 P04062,P10619,Q9BT22,Q9H6U8,P08236,Q13510,Q14739,P16278,P40939 9 |
| Preaxial polydactyly 0.3501723609416233 0.2610287833044613 0.7940703106383074 1.0 1.0 12 Q9UHX1 1 |
| Abnormality of the small intestine 0.280176753891736 0.2597287371042867 0.7950730241479853 1.0 1.0 54 Q96A33,Q13277,Q14566,O95202,Q9BT22,Q9H6U8,Q6PGP7,Q7LG56,Q8NCH0 9 |
| Anal atresia 0.3022844480336899 0.2581009162551269 0.7963290244627095 1.0 1.0 26 P21964,P53701 2 |
| Intestinal polyp 0.3119026124254246 0.2517323048149333 0.8012479852672005 1.0 1.0 19 Q15645,P21912,P20585,O43683,P54277,O60566,P42892 7 |
| Rhabdomyolysis 0.3389911013501488 0.2509707082317098 0.8018367559836883 1.0 1.0 14 P23786 1 |
| Duodenal adenocarcinoma 0.5622119815668131 0.2491627866508275 0.8032348637378588 1.0 1.0 3 P43246,P25054 2 |
| Microcornea 0.2983506239905561 0.2483162685896274 0.803889712610824 1.0 1.0 29 P36404,Q15125,Q9ULC3,P49711,P07437,P41227,Q8NAT1,Q8NCH0,Q9H9S5,Q15042,Q15555,Q13045 12 |
| Interictal eeg abnormality 0.2776453204476114 0.2463373076037393 0.8054211322538793 1.0 1.0 87 Q2TAA5,Q96N66,P13073,Q969N2,O43175,Q96C86,Q9H3H5,Q9Y2B2,Q8NB90,Q08J23,Q13885,O75503,Q9UBX3,Q05086,Q9NQZ5,Q14108 16 |
| Axonal degeneration regeneration 0.4440688383527995 0.2455559269171385 0.8060260099122987 1.0 1.0 4 Q8TB36,P51149,O95140 3 |
| Cellulitis 0.4440688383527993 0.2455559269171379 0.8060260099122991 1.0 1.0 4 P61011,P52732,P40763 3 |
| Foot oligodactyly 0.5687960687960765 0.2455253953268838 0.8060496471995351 1.0 1.0 2 P25054 1 |
| Myeloid leukemia 0.4437615242778148 0.2446778795888317 0.8067058570435346 1.0 1.0 4 Q06124,Q01130,Q02750 3 |
| Osteolysis 0.2960334237859864 0.2437012598757492 0.8074621975452283 1.0 1.0 32 Q14108,O75844 2 |
| Cataplexy 0.4433803977188918 0.243590753322514 0.8075477903979231 1.0 1.0 4 O15118 1 |
| Abnormal cerebellar vermis morphology 0.2784911132420209 0.2431602769705777 0.8078812378240534 1.0 1.0 73 O43175,Q10713,Q15125,Q9Y5Y5,P07437,Q9Y5P6,Q9Y487,P23786,Q12768,Q6NUK1,Q8NAT1,Q9H490,Q15907 13 |
| Prematurely aged appearance 0.2965940133900729 0.2431408822696506 0.8078962618015679 1.0 1.0 39 Q9Y4P3,Q9Y487,Q6NUK1,O75844,Q13126 5 |
| Abnormal connection of the cardiac segments 0.2805337597428958 0.2418164196974374 0.8089224153590902 1.0 1.0 53 O43175,P40855,Q9UHX1,Q9Y4P3,Q96DF8,Q6PGP7,Q15056,O75844,P21964,Q9Y2B2 10 |
| Decreased activity of the pyruvate dehydrogenase complex 0.3080670840127309 0.2415018418953622 0.8091661891002238 1.0 1.0 21 Q7KZN9 1 |
| Lymphedema 0.3375988277261688 0.2398339922892485 0.8104589538614209 1.0 1.0 13 P08236,Q14739 2 |
| Tapered finger 0.2963733020227246 0.2386344881931181 0.8113890198853717 1.0 1.0 35 Q15907,P42892,Q8NCH0,P23786 4 |
| Abnormality of bladder morphology 0.3451139591817113 0.2358003173991605 0.8135876218525386 1.0 1.0 12 P16435,Q9Y4P3,Q9H6U8 3 |
| Crumpled long bones 0.5556544969483286 0.2338549111153781 0.8150976183566565 1.0 1.0 3 O75718 1 |
| Abnormal circulating androgen level 0.3520559024489702 0.2327966885060936 0.8159192844785874 1.0 1.0 11 Q13423 1 |
| Neutrophilia 0.5617321867321947 0.2297581549852918 0.8182797023437838 1.0 1.0 2 Q01130 1 |
| Reduced subcutaneous adipose tissue 0.3581748805360719 0.2296055896397631 0.8183982630081004 1.0 1.0 10 Q13472,Q6NUK1,P36543,O75844 4 |
| Fat malabsorption 0.3763383964087262 0.2291013427151586 0.8187901498811416 1.0 1.0 8 Q96A33 1 |
| Acute coronary syndrome 0.3072019895984374 0.2279780852384207 0.8196632773881998 1.0 1.0 20 Q9NZ08,Q15056,Q9Y4P3,O75844 4 |
| Vertebral arch anomaly 0.552329807046956 0.2262825264998464 0.8209816877923175 1.0 1.0 3 P10644 1 |
| Narrow vertebral interpedicular distance 0.552329807046956 0.2262825264998464 0.8209816877923175 1.0 1.0 3 P10644 1 |
| Ovarian cyst 0.3148643496896962 0.2256002456007985 0.8215123498128749 1.0 1.0 18 P21912,Q9Y4P3,Q15056,P16435,O43826 5 |
| Abnormal heart valve physiology 0.2763492856602174 0.2244831284748221 0.8223813934755544 1.0 1.0 85 Q9UHX1,O75306,P04062,O43819,Q6NUK1,P00813,Q9NZ08,Q9H6U8,P10644,Q15125,Q15904,Q15056,P16278,O75844,P53701,Q9Y4P3,Q6PGP7,Q12768,P40939 19 |
| Abnormality of the nasal bone 0.4364561577951927 0.224194207458841 0.8226061905434432 1.0 1.0 4 Q6NUK1 1 |
| Coxa valga 0.3052538281844911 0.22281125502199 0.8236824079553613 1.0 1.0 21 Q96A33,P04066,O75844,Q9Y619 4 |
| Abnormal pupil morphology 0.3326408045159871 0.2223614444552441 0.824032523360515 1.0 1.0 15 Q9NR77 1 |
| Frontotemporal dementia 0.3561557860532302 0.2207349093327891 0.825298848108436 1.0 1.0 10 Q9UHD9 1 |
| Brachycephaly 0.2754058454985592 0.2191845654031188 0.8265062781948855 1.0 1.0 66 Q969N2,Q96A33,P04062,P07437,Q9H6U8,Q05086,Q12768,Q6NUK1,P04066,Q8NCH0,P16435,Q15067,Q13045,Q9Y2B2 14 |
| Focal onset seizure 0.2757271148201358 0.2145070743984259 0.8301516507854085 1.0 1.0 84 Q9BVA1,P21912,Q9H3H5,P03886,O75503,Q9UBX3,Q9NZJ7,P00403,P07602 9 |
| Hepatocellular adenoma 0.5470073690948163 0.214428158601593 0.8302131849097949 1.0 1.0 3 O43826 1 |
| Olivopontocerebellar hypoplasia 0.4005625954222338 0.2142306772322833 0.8303671743982648 1.0 1.0 5 Q9Y5P6 1 |
| Stroke 0.2934515416868504 0.2139663523500331 0.8305732964584949 1.0 1.0 36 Q9Y4P3,P03886,O75844,O76024,P00403 5 |
| Spastic paraplegia 0.2872333469139841 0.2137797274950934 0.8307188346134997 1.0 1.0 47 Q9P0J0,Q8N183,O60313,P04062,P00846,Q7KZN9,Q96CU9,Q12768,Q9Y619 9 |
| Restlessness 0.2929679567443093 0.2100417733081444 0.8336350697897241 1.0 1.0 36 P42892,Q15165,Q68CQ7,P04062 4 |
| Abnormal thyroid morphology 0.2907038652028511 0.2100405742418387 0.8336360056334045 1.0 1.0 43 P00813,O43826,Q7LG56,P42892 4 |
| Osteomalacia 0.4309294889342269 0.2092036217898145 0.8342892852029908 1.0 1.0 4 O43175,P53680 2 |
| Dilation of virchow robin spaces 0.5515970515970603 0.208275160758529 0.8350141252144425 1.0 1.0 2 P27635 1 |
| Anarthria 0.3876553756905577 0.2082004750081289 0.8350724377138812 1.0 1.0 6 Q99720 1 |
| Abnormal paranasal sinus morphology 0.3002873102222021 0.207565183225581 0.8355684920103272 1.0 1.0 23 Q13432,Q03518,P04066,P10644,P00813 5 |
| Cutaneous abscess 0.5506756756756845 0.2063893589186549 0.8364867822586315 1.0 1.0 2 Q13546 1 |
| Premature loss of primary teeth 0.5506756756756844 0.2063893589186546 0.8364867822586317 1.0 1.0 2 P04080 1 |
| Emg axonal abnormality 0.5503685503685584 0.2057632584916458 0.8369758425093441 1.0 1.0 2 Q15120 1 |
| Abnormal esophagus physiology 0.3115422786177915 0.2053375413338307 0.8373084151597325 1.0 1.0 228 Q969N2,Q9UHX1,O75306,Q9BUF5,P04062,P21912,O43819,O95202,Q9NSD9,Q7LG56,Q13510,Q9NZJ7,Q9BV10,Q6NUK1,O76024,P04350,Q13045,Q96A33,P51571,P15586,Q9H6U8,Q8IZA0,Q9Y619,P35637,P16435,Q9Y584,Q99720,Q15067,P07602,O43175,O60313,O15118,Q9Y5Y5,P00846,P55795,Q05086,Q15056,Q14739,P21964,Q14108,Q8N183,Q9Y4P3,Q8WWI5,Q9UHD9,Q9NR77,P03886,O15269,Q12768 48 |
| Joint subluxation 0.3865529280715652 0.2045722629772057 0.8379063280055401 1.0 1.0 6 Q9UHX1 1 |
| Hamartoma of tongue 0.5491400491400578 0.2032713680829237 0.8389229333001877 1.0 1.0 2 P08754 1 |
| Attenuation of retinal blood vessels 0.3693216439285717 0.2026636416388537 0.8393979431697229 1.0 1.0 8 Q96S66,P38435 2 |
| Abnormality of lower limb epiphysis morphology 0.3233798565961061 0.2019989876448126 0.8399175156108689 1.0 1.0 16 Q7RTS9,Q7LGA3,P50542 3 |
| Abnormal systemic arterial morphology 0.2658462810370201 0.2017871076778904 0.8400831608130566 1.0 1.0 142 P53701,Q9UHX1,Q7LGA3,P04062,Q9Y4P3,P21912,Q96DF8,P00846,P03886,P38435,P17900,P10619,Q13510,Q9NZJ7,O75844,P21964,P07602 17 |
| Vertebral wedging 0.5476044226044239 0.2001846828863105 0.8413361460033129 1.0 1.0 2 Q15436 1 |
| Arachnodactyly 0.2908453694830128 0.1994974026101293 0.8418736749363465 1.0 1.0 33 P21964,O95202,Q8NCH0,Q9H3H5 4 |
| Congenital onset 0.262061465213423 0.1986251313265999 0.8425559933311124 1.0 1.0 112 Q9UHX1,O43819,P07437,Q9NQT5,Q9NZJ7,P46977,Q6NUK1,Q5XKP0,Q7LGA3,Q96C86,Q9H3H5,Q969X5,P51571,P08670,Q9H6U8,P07602,Q9BUB7,Q15125,P50570,P50542,Q8TD16 21 |
| Multiple cafe au lait spots 0.3446178384170273 0.198603185301116 0.8425731617383643 1.0 1.0 11 O60566,Q15645,P21912 3 |
| Muscular hypotonia of the trunk 0.2746855736189272 0.1971530164296008 0.8437077963880064 1.0 1.0 81 Q96N66,O75306,Q9HC21,Q9NQT5,Q9NVI7,Q9NSD9,Q9NZJ7,Q5XKP0,P04350,Q9H3H5,Q08J23,P17900,Q9Y5P4,Q6IA86,P07602,Q2TAA5,O60313,Q8NB90,O75880,Q6PML9 20 |
| Abnormal aldolase level 0.4262331140658761 0.1968158951550619 0.8439716118722878 1.0 1.0 4 Q8NAT1 1 |
| Hypoplastic facial bones 0.3222819163039592 0.195847446965544 0.8447295718111003 1.0 1.0 16 P16435,Q7RTS9,Q9Y4P3 3 |
| Myoglobinuria 0.3368303242281464 0.1955497432447452 0.8449625997696562 1.0 1.0 12 P23786 1 |
| Medial flaring of the eyebrow 0.5377921468749828 0.1946952177698702 0.8456315559392029 1.0 1.0 3 Q9NQ48 1 |
| Dermatological manifestations of systemic disorders 0.2742871909077357 0.19416543013823 0.8460463504703244 1.0 1.0 72 P00374,P40855,O15118,Q9H3H5,Q8WWI5,Q6NUQ1,Q9Y5Y5,P50542,Q15904,Q6PGP7,P04066,P10644,Q14739,O75844,O75381,P61916 16 |
| Recurrent bacterial skin infections 0.5445331695331784 0.1941053946047544 0.8460933576796363 1.0 1.0 2 P53634 1 |
| Increased fecal porphyrin 0.5445331695331785 0.1941053946047544 0.8460933576796363 1.0 1.0 2 P36551 1 |
| Abnormal stool composition 0.5445331695331785 0.1941053946047544 0.8460933576796363 1.0 1.0 2 P36551 1 |
| Abnormal liver morphology 0.3154144140233046 0.1939364518087212 0.846225641101948 1.0 1.0 238 Q8N511,Q10713,P04062,Q9NVI7,Q7LG56,Q13510,P09601,Q9NZJ7,Q86Y39,P00813,Q5XKP0,P10253,P00374,Q96A33,Q9H3H5,P16930,P23786,P15586,Q7KZN9,Q96CU9,P54802,Q9Y619,P22830,Q15067,P07602,Q9BUB7,O15118,Q9Y5Y5,P00846,P10619,Q9BT22,Q15904,P08236,O75880,O43676,O75381,Q14108,P40855,P03886,Q6PGP7,O43826,P40939 42 |
| Abnormal blood phosphate concentration 0.3535317161070356 0.1933219029413724 0.8467068738095231 1.0 1.0 9 P16930,O14662 2 |
| Aplasia hypoplasia of the optic nerve 0.295042569948331 0.1933133379829476 0.8467135811470059 1.0 1.0 25 Q9UHX1,Q15058,Q9Y5P6,Q9NVI7,P07196,Q9H9S5 6 |
| Aplasia hypoplasia involving bones of the feet 0.273656282078345 0.191863120577114 0.8478494262184162 1.0 1.0 69 P13073,Q7Z4L5,Q96A33,Q9UHX1,Q7LGA3,Q9NX62,Q7RTS9,Q08J23,O95202,Q96PZ0,Q9NQ48,Q13510,P10644,P00813,Q9Y5P4,Q9Y2B2 16 |
| Elevated circulating alanine aminotransferase concentration 0.3428337118806407 0.190561206794207 0.8488693856526752 1.0 1.0 11 Q15904,O75880 2 |
| Elbow flexion contracture 0.2946154558735835 0.1903546898698748 0.8490312006834679 1.0 1.0 25 P16435,Q969X5,Q7LGA3,P23786 4 |
| Motor delay 0.3086812375763363 0.1896564651341327 0.8495783373343133 1.0 1.0 224 Q10713,Q8TD16,Q9BVA1,P21912,P04062,O43819,P07437,Q9Y487,Q13510,Q9BV10,Q8NAT1,Q5XKP0,P04350,P10253,Q7LGA3,Q96C86,Q9H3H5,Q7RTS9,P07196,P35637,P16435,Q99720,O60313,Q96PZ0,Q9Y5P6,Q05086,Q8NCH0,P50570,P00403,Q15058,Q9NR77,P03886,Q53H12,O43826,P40939,Q15907,Q9BUK6 37 |
| Abnormality of blood circulation 0.2739929840832345 0.1877309030429853 0.8510876038259503 1.0 1.0 75 Q9NZ08,P21912,Q9UHX1,P49257,Q9H3H5,P16930,P04062,P38435,Q13277,Q9Y487,P23786,O75844,O76024,P50570,P21964 15 |
| Abnormal head movements 0.3350671326636545 0.1871627786268191 0.8515330074594347 1.0 1.0 12 Q969N2,Q99720 2 |
| Narrow foot 0.5408476658476661 0.1869761550937886 0.8516793287096662 1.0 1.0 2 O60828 1 |
| Macular coloboma 0.5405405405405493 0.186390232313884 0.8521387516994792 1.0 1.0 2 Q92620 1 |
| Impaired temperature sensation 0.3772263926468449 0.1862171243426542 0.8522744955458041 1.0 1.0 7 Q9NR77 1 |
| Pituitary growth hormone cell adenoma 0.4215227346309066 0.1847210601274125 0.8534478268463783 1.0 1.0 4 Q9H6U8 1 |
| Abnormality of the plantar skin of foot 0.2893693630566731 0.1845293629851277 0.8535981943247977 1.0 1.0 40 Q06136,P21912,Q9Y2B2,Q9Y487,P42167,P16615 6 |
| Perseveration 0.3765651683819458 0.1840240103931445 0.853994619010815 1.0 1.0 7 P35637 1 |
| Nocturnal hypoventilation 0.532447533720573 0.1837167071640393 0.854235701575339 1.0 1.0 3 Q9H9S5 1 |
| Abnormality of the anus 0.2867198309493869 0.1813491738157757 0.856093510723666 1.0 1.0 44 P53701,Q8TAA9,Q9Y2B2,Q12768,Q6NUK1,P16435,P21964,P16615 8 |
| Mediastinal lymphadenopathy 0.389503630749846 0.181009683355067 0.8563599753494655 1.0 1.0 5 Q9H0U3,O15460 2 |
| Distal muscle weakness 0.272494117364009 0.1806059139057859 0.8566769135981289 1.0 1.0 68 P50570,Q9H3H5,Q9NR77,P00846,O15269,Q9BQT8,Q7LG56,P07196,P35637,Q99720,P40939,Q8TD16 12 |
| Nephrocalcinosis 0.2946977586098872 0.1798967534295215 0.8572336240101124 1.0 1.0 24 Q969N2,Q9Y4P3,P16930,Q13277,O43826 5 |
| Hypokalemia 0.3743584826768053 0.1767587883647264 0.8596978613757249 1.0 1.0 7 P05023,P0DP25,Q99996 3 |
| Lipid accumulation in hepatocytes 0.2727617381956819 0.1749028831050584 0.8611559448062072 1.0 1.0 73 Q8N511,O43826,P23786,Q15904,Q7LG56,Q7KZN9,O75880,Q5XKP0,P40939 9 |
| Abnormality of the helix 0.2883291567921685 0.1721026869786262 0.8633568003804619 1.0 1.0 37 Q7LGA3,P50542,P23786,O75844,P21964 5 |
| Recurrent lower respiratory tract infections 0.288816561033948 0.1714543097725774 0.8638665539129102 1.0 1.0 28 P00813,Q13432 2 |
| Abnormal carotid artery morphology 0.3231371354126089 0.1711419640225015 0.8641121400783678 1.0 1.0 15 Q9Y4P3,O75844 2 |
| Abnormality of upper limb metaphysis 0.4149258014642061 0.1683475075130932 0.8663099015520344 1.0 1.0 4 O14662 1 |
| Bifid tongue 0.4148740012292591 0.1682215808075431 0.8664089638414727 1.0 1.0 4 P61978,Q6DKJ4,Q8NCM8 3 |
| Esophageal varix 0.5245872571237883 0.168200268311807 0.8664257298702855 1.0 1.0 3 P04062 1 |
| Lacrimation abnormality 0.311492024874481 0.1679018215522612 0.8666605170824602 1.0 1.0 17 Q03001 1 |
| Abnormality of the musculature of the limbs 0.2780222516553937 0.1674427514025641 0.8670216892167453 1.0 1.0 167 P21912,O43819,Q9Y487,Q7LG56,Q9NW15,Q13510,Q9NZJ7,Q8NAT1,P05023,Q9H3H5,Q969X5,Q7RTS9,P50402,P07196,Q99720,Q15067,P07602,Q2TAA5,O60313,Q15125,Q8NB90,P00846,Q9Y5P6,P50570,Q6PML9,Q9NR77,Q13126,O15269,Q9BQT8,P40939,Q8TD16 31 |
| Abnormal ossification involving the femoral head and neck 0.3846786134195384 0.1671414446045808 0.8672587565787713 1.0 1.0 5 Q7RTS9 1 |
| Displacement of the urethral meatus 0.2533350807251711 0.1653526955556367 0.8686663845442646 1.0 1.0 120 P40855,P16435,Q9BUB7,P53701,Q9UHX1,Q9Y5Y5,P07437,O95202,P51571,Q6PGP7,Q9UBX3,Q9BV10,Q9Y619,O75844,P21964,O75381 16 |
| Fine hair 0.3166331485623906 0.1646566616608777 0.869214230264149 1.0 1.0 16 Q6PGP7,Q08J23,Q9Y2B2 3 |
| Abnormal tendon morphology 0.3023087707759486 0.1645719585728343 0.8692809040440772 1.0 1.0 214 P21912,P04062,Q9NQT5,Q86XL3,Q13510,Q9BV10,P50897,Q96A33,Q7LGA3,Q9H3H5,Q969X5,Q7RTS9,P23786,P15586,Q9H6U8,Q03001,Q8IZA0,P50402,Q9Y619,P07196,P04066,P16435,Q99720,P35637,O43175,Q9BUB7,O60313,Q9BT22,P08236,Q8NCH0,O75844,P50570,P42892,Q15392,Q15058,Q9NR77,P50542,Q8TD16,Q9Y2B2 39 |
| Hydranencephaly 0.5226357000675269 0.1644647557672609 0.8693652897411817 1.0 1.0 3 O43175 1 |
| Aplasia hypoplasia of the clavicles 0.3224957394537343 0.1631082822362699 0.8704331788463602 1.0 1.0 13 Q9Y619,O75844 2 |
| Facial hemangioma 0.3831443649220961 0.1628135124605173 0.8706652688277463 1.0 1.0 5 P16435 1 |
| Synovitis 0.5210445468509904 0.1614536612484652 0.8717361054288875 1.0 1.0 3 O14802,Q02750 2 |
| Visual impairment 0.3314362782342915 0.161400898506758 0.8717776590453381 1.0 1.0 281 Q96N66,Q10713,Q969N2,Q9BVA1,P68371,O75306,Q9UHX1,P21912,O43819,Q7LG56,Q9NZJ7,Q86Y39,Q9H061,Q5XKP0,O43681,P04350,Q8NHS3,P50897,Q9Y6M9,Q96A33,Q9NPL8,Q13432,Q7LGA3,Q9NZ08,Q96C86,Q08J23,P17900,Q96CU9,Q96HR9,P07602,O43175,O43292,O60313,Q9H6K4,Q13277,Q9Y5Y5,P00846,Q8NB90,Q9Y5P6,Q96PZ0,Q15056,P16278,O43676,O75381,Q9H490,P40855,Q8N183,O14773,P53701,Q9Y4P3,Q15058,P13473,P49770,P50542,P03886,O96000,O75503,P00403,P40939,Q6P4A7,Q15907 61 |
| Abnormal cry 0.3294554733812835 0.1609157901038919 0.8721597256720452 1.0 1.0 12 O75208,O60313,Q13510 3 |
| Dicarboxylic aciduria 0.2903075777640094 0.160831295792762 0.8722262756162766 1.0 1.0 25 Q9H9P8,P23786,O75880 3 |
| Weight loss 0.2707548950164665 0.1606171599776605 0.8723949386718091 1.0 1.0 68 Q13423,P21912,P04062,Q7LG56,Q9NZJ7,O75844,Q99720,P42892,P07602 9 |
| Neoplasm of the liver 0.2862144048815598 0.155151015348542 0.8767022646453546 1.0 1.0 37 P16930,Q10713,Q6PGP7 3 |
| Hyperphenylalaninemia 0.522113022113027 0.1535405512935022 0.8779720141008336 1.0 1.0 2 P61457 1 |
| Hypermetropia 0.2719744070479077 0.1529351613604439 0.8784494073056195 1.0 1.0 53 Q969N2,Q96A33,P68371,Q9UHX1,Q9Y4P3,Q15904,Q6NUK1,Q15056,Q15907,Q9Y2B2 10 |
| Abnormal mitral valve physiology 0.285659768689359 0.1515759770478126 0.8795213819853105 1.0 1.0 39 Q9NZ08,P53701,Q9Y4P3,O75306,P04062,O43819,Q15056,O75844,P40939 9 |
| Reduced factor xiii activity 0.5208845208845314 0.1515115799225936 0.8795721768307365 1.0 1.0 2 Q02750 1 |
| Reduced factor xii activity 0.5208845208845314 0.1515115799225936 0.8795721768307365 1.0 1.0 2 Q02750 1 |
| Amegakaryocytic thrombocytopenia 0.5208845208845314 0.1515115799225936 0.8795721768307365 1.0 1.0 2 Q02750 1 |
| Parietal bossing 0.5208845208845307 0.1515115799225922 0.8795721768307376 1.0 1.0 2 O14802 1 |
| Severe hearing impairment 0.5208845208845247 0.1515115799225826 0.8795721768307452 1.0 1.0 2 P21281 1 |
| Lower limb amyotrophy 0.3140149339591139 0.1504704461733348 0.8803934657854278 1.0 1.0 16 P07196,Q9NR77,Q9NVI7 3 |
| Cerebral hemorrhage 0.3270960329012762 0.15008970066951 0.8806938456155367 1.0 1.0 12 P23786 1 |
| Bilateral ptosis 0.3011178987308759 0.1433180417139148 0.8860390076917251 1.0 1.0 18 Q7LG56,O60313,O75306,O43819 4 |
| Prominent nasal bridge 0.2796292368574615 0.1428286743994072 0.8864254903531723 1.0 1.0 47 P13073,Q10713,Q15125,Q9NQ48,Q08J23,Q96EK5,Q9BV10,P21964,P42892,Q9Y2B2 10 |
| Abnormality of the humerus 0.3069782394791738 0.1425232215138988 0.8866667384801294 1.0 1.0 17 O14662,Q7RTS9,P50542,O00116,Q9BV10,P16435 6 |
| Aplasia hypoplasia affecting the fundus 0.2858437962403052 0.1417792115428332 0.8872544049608349 1.0 1.0 26 Q9UHX1,Q15058,Q9Y5P6,Q9NVI7,P07196,Q9H9S5 6 |
| Abnormal aortic valve cusp morphology 0.2883997106625434 0.1379819773095194 0.8902546613148801 1.0 1.0 24 Q6PGP7,Q9Y4P3,Q6NUK1,Q9UHX1 4 |
| Abnormality of tibia morphology 0.3172043818230182 0.1376193954678496 0.8905412260168011 1.0 1.0 14 Q7RTS9,Q9BV10 2 |
| Lower limb hyperreflexia 0.3114767005930486 0.1368887369936843 0.8911187416041739 1.0 1.0 16 P13073,Q05086,P21912 3 |
| Spina bifida occulta 0.293490433809045 0.1361946692585402 0.8916673892179305 1.0 1.0 19 Q9Y4P3,Q15056,Q9UHX1,Q8TAA9 4 |
| Diaphragmatic paralysis 0.4010172420166951 0.1360405864112129 0.8917891958823052 1.0 1.0 4 P10253 1 |
| Progressive inability to walk 0.2922778241650174 0.1336759051997872 0.8936588590004424 1.0 1.0 20 Q7LG56,P00846 2 |
| Primitive neuroectodermal tumor 0.3051924349807055 0.1326377358775941 0.8944798871598179 1.0 1.0 17 P07437 1 |
| Motor polyneuropathy 0.3230410269000259 0.1317851465570882 0.8951542354061701 1.0 1.0 12 P07196,O43819 2 |
| Skin vesicle 0.3292017933885536 0.1313160684341836 0.8955252810874312 1.0 1.0 11 P98194 1 |
| Morphological abnormality of the vestibule of the inner ear 0.5067567567567672 0.1296114325985443 0.8968738576458806 1.0 1.0 2 Q06124 1 |
| Aplasia of the semicircular canal 0.5067567567567672 0.1296114325985443 0.8968738576458806 1.0 1.0 2 Q06124 1 |
| Focal motor status epilepticus 0.5064496314496422 0.1291644067667083 0.8972275595234536 1.0 1.0 2 Q96RR1 1 |
| Slender long bone 0.3153560405515367 0.1285165670791301 0.8977401883071234 1.0 1.0 14 Q969N2,Q9Y487,Q9Y619,Q9H490,P37268 5 |
| Aplasia hypoplasia involving the nose 0.2818601364556162 0.127690403644429 0.8983939847049534 1.0 1.0 29 Q96DF8,Q8NB90,Q08J23,P55795,Q9H6U8,O75844 6 |
| Primary gonadal insufficiency 0.3478985987527288 0.1274109717154181 0.8986151328402756 1.0 1.0 8 O76024 1 |
| Persistent head lag 0.3576988296816711 0.1246831061094356 0.9007744323937752 1.0 1.0 7 Q5XKP0 1 |
| Asymmetric growth 0.3276104893851808 0.1246674276923361 0.9007868451136822 1.0 1.0 11 P07437 1 |
| Abnormality of corneal size 0.2809220787861693 0.1246196877696658 0.9008246413163904 1.0 1.0 43 Q9Y4P3,Q15125,P07437,O95202,Q9Y5P6,Q96EK5,Q15056,Q8NAT1,Q8NCH0,Q9H9S5,Q13045 11 |
| Broad based gait 0.2863220122422866 0.124442719503172 0.9009647509294774 1.0 1.0 24 Q05086,O14773,P50542,P04062 4 |
| Subvalvular aortic stenosis 0.368592544774896 0.1237840470021094 0.9014862633082892 1.0 1.0 5 O60566,Q15645 2 |
| Minicore myopathy 0.5000000000000033 0.120058913185381 0.9044364794299368 1.0 1.0 2 P51114 1 |
| Paraplegia 0.2747368010100196 0.1194123273946557 0.9049486953271892 1.0 1.0 49 Q9P0J0,Q8N183,O60313,P04062,P00846,Q7KZN9,Q96CU9,Q12768,Q9Y619 9 |
| Central hypoventilation 0.3553901480526666 0.117867612560699 0.9061725557548715 1.0 1.0 7 Q8N183,O43819 2 |
| Abnormal foot bone ossification 0.4955324839743407 0.1174356429292092 0.9065148404987952 1.0 1.0 3 Q15125 1 |
| Agyria 0.3921327596803965 0.1170098935038629 0.9068522134575718 1.0 1.0 4 Q9H9S5,P43034,O00139 3 |
| Abnormal insulin level 0.2836885298571129 0.116665328790455 0.9071252662209444 1.0 1.0 25 O75431,P53985,P31751,Q16836,O75844,Q96HR9,P40939 7 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2667650565934846 0.1152564705204876 0.9082418398533152 1.0 1.0 90 Q9UHX1,Q9NX62,O95202,O00116,Q13510,Q9BV10,P00813,Q96A33,Q7LGA3,Q7RTS9,Q08J23,Q9Y619,P10644,Q9Y5P4,Q7Z4L5,Q96PZ0,Q9NQ48,O95831,P13073,P50542,Q9Y2B2 21 |
| Dermal translucency 0.3431312087501149 0.111869910990663 0.9109265543633998 1.0 1.0 8 O75844 1 |
| Cerebral cortical atrophy 0.263375807200937 0.1094004107080162 0.9128849080068068 1.0 1.0 99 Q9BUB7,Q7LGA3,Q9Y4P3,P04062,Q9H3H5,Q96PZ0,Q8NB90,P00846,P03886,Q9Y5P6,P51572,O75503,Q05086,Q9Y619,O76024,P00403,Q8TD16,Q9Y2B2 18 |
| Autoimmunity 0.2798005636775842 0.1086966577864418 0.9134430928492784 1.0 1.0 35 P00813,Q8IZA0 2 |
| Increased circulating androgen concentration 0.4895577395577494 0.1064425426819602 0.9152312406031377 1.0 1.0 2 O14802 1 |
| Lung adenocarcinoma 0.4895577395577453 0.1064425426819551 0.9152312406031416 1.0 1.0 2 P30154 1 |
| Hyperaldosteronism 0.4895577395577408 0.1064425426819492 0.9152312406031462 1.0 1.0 2 Q01968 1 |
| Increased level of l fucose in urine 0.4895577395577385 0.1064425426819467 0.9152312406031482 1.0 1.0 2 P25054 1 |
| Epidermoid cyst 0.4881720430107439 0.1062261503412957 0.9154029233538036 1.0 1.0 3 Q9H488,P25054 2 |
| Multiple rows of eyelashes 0.4881720430107439 0.1062261503412957 0.9154029233538036 1.0 1.0 3 Q9Y606,Q9Y2Z4 2 |
| Head tremor 0.3101787203935814 0.104476610813126 0.9167911285556304 1.0 1.0 13 Q99720,P07196 2 |
| Abnormal neural tube morphology 0.2787744408499565 0.1022457289869474 0.9185616314397184 1.0 1.0 42 O43175,Q10713,Q9UHX1,Q8TAA9,Q9Y4P3,Q9HC21,Q9Y5P6,Q15056,P21964 9 |
| Abnormal sputum 0.3586279611495403 0.0992277260830444 0.9209574612575028 1.0 1.0 5 Q9NZ08 1 |
| Gastrointestinal inflammation 0.2846619291884372 0.0987694275545577 0.921321343046826 1.0 1.0 22 P08183,O43175,Q6PGP7,O43826 4 |
| Abnormal rectum morphology 0.2759173074726578 0.0980831018775432 0.9218663055692088 1.0 1.0 31 Q9Y4P3,P53701,P21912 3 |
| Respiratory failure requiring assisted ventilation 0.350379272337981 0.0971671463422601 0.9225936579762406 1.0 1.0 6 P10253 1 |
| Vasculitis 0.3383702419442299 0.0968143813712636 0.922873802904091 1.0 1.0 8 Q9NZ08,O15460 2 |
| Macroscopic hematuria 0.4788083538083668 0.0938404609748409 0.9252358902689636 1.0 1.0 2 P07741 1 |
| Hyperuricosuria 0.4788083538083612 0.0938404609748348 0.9252358902689686 1.0 1.0 2 P60891 1 |
| Uric acid nephrolithiasis 0.4789554531489926 0.0931206737141768 0.9258076935481792 1.0 1.0 3 P60891,P07741 2 |
| Severe postnatal growth retardation 0.3141632095097126 0.0931056242309653 0.9258196493571976 1.0 1.0 12 O95202 1 |
| Abnormal urine metabolite level 0.2694176720588591 0.0930593428899784 0.9258564168957124 1.0 1.0 160 Q969N2,P21912,P04062,Q9NVI7,Q7LG56,P09601,Q5XKP0,P10253,P16930,P23786,P15586,Q9H6U8,P54802,Q9Y619,P04066,Q9BUB7,Q9H6K4,P51649,O95470,P08236,Q15056,Q14108,P00403,Q9Y4P3,P50542,P03886,Q6PGP7,Q53H12,O43826,P53985,P40939 31 |
| Abnormal labia majora morphology 0.3141249311443403 0.0929431588538705 0.9259487183117016 1.0 1.0 12 P16435,Q9Y619 2 |
| Hypoplastic labia majora 0.3141249311443403 0.0929431588538705 0.9259487183117016 1.0 1.0 12 P16435,Q9Y619 2 |
| Cystic liver disease 0.3556611869565728 0.0922657847614313 0.9264868721845962 1.0 1.0 5 Q9H6U8 1 |
| Childhood onset 0.2775571789198824 0.0921720224734348 0.926561366231296 1.0 1.0 42 Q9H3H5,Q14566,Q9NR77,Q15904,P50402,P22830,O00165 7 |
| Hypertrichosis 0.2601996561905951 0.0911400781957947 0.9273812873489308 1.0 1.0 103 Q9P0J0,Q9UHX1,O75306,O43819,Q6NUK1,Q13045,Q96A33,Q9H3H5,Q08J23,P15586,Q9H6U8,Q7KZN9,Q96CU9,P54802,Q8NB90,P16278,Q9H490,Q8N183,P03886,P00403 20 |
| Agnosia 0.3454321747154679 0.0896396507454851 0.928573574484172 1.0 1.0 7 P60866,Q16658,P43246,O96008,P54277,P05067 6 |
| Polyuria 0.3533796011167279 0.0870218740018024 0.9306541251225756 1.0 1.0 5 P05023 1 |
| Hyperphosphatemia 0.4743578567595657 0.0869658414563026 0.9306986637735382 1.0 1.0 3 O14662 1 |
| Skin pit 0.3125582041043391 0.0863261590656334 0.9312071441655758 1.0 1.0 12 P16615 1 |
| Bilateral cryptorchidism 0.3242185334027654 0.0849976079967691 0.9322632923712112 1.0 1.0 9 P36543,P37268 2 |
| Curly hair 0.3120908302434634 0.0843646510480364 0.9327665114362592 1.0 1.0 12 Q6PGP7,Q96A33,P55795 3 |
| Subcortical heterotopia 0.4703533026113586 0.0818100209065101 0.9347977872576598 1.0 1.0 3 Q9BSJ2,P43034 2 |
| Subcortical band heterotopia 0.4703533026113586 0.0818100209065101 0.9347977872576598 1.0 1.0 3 Q9BSJ2,P43034 2 |
| Recurrent bronchitis 0.3501609716197698 0.0797878699088302 0.9364059719755964 1.0 1.0 5 Q9H0U3,Q03518 2 |
| Small epiphyses 0.4673633136819484 0.0780838190409473 0.9377613784268172 1.0 1.0 3 O95831 1 |
| Plagiocephaly 0.2738536458791338 0.0777830620605561 0.9380006201410702 1.0 1.0 32 Q969X5,Q10713,Q96A33,Q9BV10 4 |
| Feeding difficulties in infancy 0.2723113106023033 0.077095241395087 0.938547778551972 1.0 1.0 167 Q969N2,Q10713,Q9UHX1,O75306,Q9BUF5,P21912,O43819,Q9Y487,Q9NVI7,Q9NZJ7,Q9BV10,O76024,O43681,Q13045,P10253,P23786,Q9Y619,P35637,Q9Y584,Q99720,P07602,O60313,Q9Y5Y5,Q8NB90,Q05086,O75880,P21964,P22695,O75381,Q9H490,P40855,P50416,P50542,Q12768,P40939,Q9Y2B2 36 |
| Abnormality of the common coagulation pathway 0.2998144019205475 0.0767970963109374 0.9387849607265136 1.0 1.0 16 P38435,Q9BV10,Q4KMQ2 3 |
| Calvarial hyperostosis 0.3693915181315336 0.074102983820153 0.9409284410460212 1.0 1.0 4 P55072,P22626,P10644 3 |
| Tongue atrophy 0.3469804171016875 0.072828218298761 0.9419428156203512 1.0 1.0 5 P07196 1 |
| Difficulty running 0.2938837192775476 0.0722293834409732 0.9424193616331792 1.0 1.0 17 O95140,Q9H3H5,Q9Y5P6,P07196,Q8TD16 5 |
| Delayed social development 0.4566953316953344 0.0721794464238434 0.9424591018805752 1.0 1.0 2 Q9Y3C6 1 |
| Ventricular escape rhythm 0.3462758428531646 0.0713119326990186 0.9431494984888033 1.0 1.0 5 P50402 1 |
| Poor speech 0.2641601245648692 0.0710333930095097 0.9433711788280914 1.0 1.0 84 Q9P0J0,Q10713,Q15058,Q96C86,Q7RTS9,Q9Y487,Q9NVI7,Q9H6U8,Q05086,Q96CU9,P08236,P04350 12 |
| Retinal fold 0.4542383292383438 0.0701068511910584 0.9441086136604062 1.0 1.0 2 P35222 1 |
| Glomerular deposits 0.4536240786240762 0.0695986531099124 0.944513109005346 1.0 1.0 2 P52565 1 |
| Mandibular prognathia 0.2753543675606001 0.0693906029235992 0.9446787086713142 1.0 1.0 39 Q9BUK6,Q9UHX1,Q7RTS9,Q9NVI7,Q05086,Q6NUK1,P10644,P16278,Q13045,Q9Y2B2 10 |
| Cardiac diverticulum 0.3452197971103657 0.0690565750772092 0.9449445865370628 1.0 1.0 5 P43246,Q16658,P54277,P60866 4 |
| Absent hypoplastic paranasal sinuses 0.4594680491818421 0.0687446818863519 0.9451928513044784 1.0 1.0 3 P04066 1 |
| Abnormality of the upper arm 0.2774272914315785 0.0682388328023255 0.9455955148941368 1.0 1.0 24 O14662,Q7RTS9,P50542,O00116,P50402,Q9BV10,P16435 7 |
| Sinus bradycardia 0.4576395977224097 0.0666839813554843 0.9468332869505304 1.0 1.0 3 Q99996 1 |
| Tissue ischemia 0.2799282739780173 0.0651131450799259 0.9480839143835662 1.0 1.0 21 P06280,Q9NZ08,Q9Y4P3,Q15056,O75844 5 |
| Congenital malformation of the right heart 0.3277671149810066 0.0650070582630846 0.9481683804627652 1.0 1.0 8 P40855,Q12768 2 |
| Cerebral hypoplasia 0.301646099912535 0.0638628178864671 0.9490794588435068 1.0 1.0 14 O43175,Q15058,Q86XL3,Q00534,O60566 5 |
| Ventricular septal hypertrophy 0.454665611589738 0.063413127491352 0.9494375340643082 1.0 1.0 3 P06280 1 |
| Recurrent sinusitis 0.3368112809806751 0.0631583751562115 0.9496403903832472 1.0 1.0 6 P50851,Q13432 2 |
| Chylothorax 0.4543778801843224 0.0631019569129443 0.9496853160155264 1.0 1.0 3 Q06124,Q02750 2 |
| Premature arteriosclerosis 0.443796068796071 0.0619939847062 0.9505676222981227 1.0 1.0 2 Q14191 1 |
| Second degree atrioventricular block 0.4437960687960653 0.0619939847061961 0.950567622298126 1.0 1.0 2 P0DP25 1 |
| Inguinal freckling 0.443488943488945 0.0617719245897254 0.95074446170862 1.0 1.0 2 Q9H488 1 |
| Deviated nasal septum 0.4434889434889445 0.0617719245897248 0.9507444617086204 1.0 1.0 2 Q15233 1 |
| Vocal cord paralysis 0.2806353425554645 0.0616710575680486 0.9508247887973365 1.0 1.0 19 Q9NR77,P21912 2 |
| Hypolipidemia 0.4419533169533181 0.0606754068414713 0.9516177180826186 1.0 1.0 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.4419533169533181 0.0606754068414713 0.9516177180826186 1.0 1.0 2 Q9Y6B6 1 |
| Abnormal blood inorganic cation concentration 0.2736843979404095 0.0582452703572423 0.9535532613750428 1.0 1.0 41 Q969N2,P05023,O14662,P21912,Q9Y4P3,Q96DF8,Q9NSD9,Q9BV10,Q15056,P21964,P40939 11 |
| Aplasia hypoplasia of the 5th finger 0.3003701706435011 0.0581167583788451 0.9536556256985392 1.0 1.0 14 Q9UHX1 1 |
| Lack of skin elasticity 0.2994844406135328 0.0568358836253241 0.954675929126234 1.0 1.0 13 O43175,O75844 2 |
| Neoplasm of the gastrointestinal tract 0.261897750439137 0.0564075105796729 0.955017173906135 1.0 1.0 91 Q10713,P16930,Q6PGP7,Q9NZJ7,O43826,O43681,P42892,P07602 8 |
| Abnormality of the hypothenar eminence 0.3577135832821177 0.0553104896880629 0.9558911053978568 1.0 1.0 4 Q96IJ6,Q9NRG9,P62913 3 |
| Abnormality of hindbrain morphology 0.3215620338243674 0.0550761385346271 0.956077805974718 1.0 1.0 273 Q969N2,Q10713,Q8TD16,Q9BVA1,P21912,Q8TAA9,Q6DKK2,P07437,O95202,Q9NQT5,Q9Y487,Q9NVI7,Q7LG56,Q9NW15,Q9BV10,P46977,Q6NUK1,Q8NAT1,Q5XKP0,P04350,Q8NHS3,Q8NI60,P00374,Q9H3H5,P23786,Q9H6U8,Q96CU9,P35637,P16435,Q99720,O43175,O43292,O60313,Q15125,Q9H6K4,Q9H9P8,Q9Y5Y5,P00846,Q9Y5P6,Q9BT22,P55795,P51572,P51649,Q15056,Q14108,P13073,O14773,Q9Y4P3,Q15058,Q8WWI5,O75503,Q8IV08,Q15907,Q9BUK6 54 |
| Metaphyseal irregularity 0.3140893418389155 0.0548416835221052 0.9562645917044068 1.0 1.0 10 Q7RTS9 1 |
| Pili torti 0.4439324116743421 0.0524254816870895 0.9581896705810478 1.0 1.0 3 Q9Y276,Q14191 2 |
| White forelock 0.4439324116743389 0.0524254816870865 0.9581896705810502 1.0 1.0 3 Q14191,P12955 2 |
| Juvenile myelomonocytic leukemia 0.4436251920122792 0.0521294535494958 0.9584255443267762 1.0 1.0 3 Q06124,Q02750 2 |
| Pectus excavatum of inferior sternum 0.4436251920122792 0.0521294535494958 0.9584255443267762 1.0 1.0 3 Q06124,Q02750 2 |
| Abnormality of the nasal skeleton 0.3367028910312649 0.0516280816183634 0.9588250432767352 1.0 1.0 5 Q6NUK1 1 |
| Aplasia hypoplasia of the nasal bone 0.4430105969170396 0.0515402802683711 0.9588950054741654 1.0 1.0 3 Q6NUK1 1 |
| Cystic hygroma 0.3229495189262439 0.0513629397478953 0.9590363155705696 1.0 1.0 8 P61978,Q53EZ4,Q14739 3 |
| Complex febrile seizure 0.4272113022113036 0.051269444596872 0.959110815750864 1.0 1.0 2 Q8WVX9 1 |
| Abnormal sacrum morphology 0.2717639425513902 0.0495240858393926 0.9605016430230888 1.0 1.0 35 P53701,Q9Y4P3,Q15125,Q8TAA9,O95202,Q15056,P04066,Q14739 8 |
| Motor regression 0.4213759213759264 0.0480741264815351 0.9616571664335564 1.0 1.0 2 P51659 1 |
| Neuronal loss in basal ganglia 0.3339099464721752 0.0462077668196676 0.9631446520619472 1.0 1.0 5 O43819 1 |
| Aplasia hypoplasia of the eyebrow 0.2719183631624317 0.0430221747208312 0.9656838573455586 1.0 1.0 39 P00813,Q9NVI7,O75844 3 |
| Vacuolated lymphocytes 0.4334957274865192 0.0429263626119031 0.965760233789868 1.0 1.0 3 P04066 1 |
| Portal fibrosis 0.3484941610325784 0.0419990111551776 0.966499486406927 1.0 1.0 4 P55263,Q9H3U1,P28288 3 |
| Gait disturbance 0.3345507187401158 0.0409316873886744 0.9673503557249346 1.0 1.0 310 Q10713,Q8TD16,Q9BVA1,P21912,P04062,Q9Y2B2,O43819,Q9NVI7,Q7LG56,Q9NW15,Q13510,Q9NZJ7,Q5XKP0,O43681,P04350,P05023,Q9NZ08,Q7LGA3,Q96C86,Q9H3H5,Q7RTS9,Q96CU9,P50402,O14949,Q9Y619,P07196,P35637,Q99720,Q15067,P07602,O43292,O60313,O15118,Q9H6K4,Q96PZ0,Q8NB90,P00846,Q9Y5P6,Q9NP80,P55795,Q05086,Q15056,O75844,P50570,Q6PML9,Q14108,O14773,Q9Y4P3,P49770,Q9NR77,P50542,P03886,O15269,Q9BQT8,O75503,Q8IV08,P00403,P40939,Q15907,Q9BUK6 60 |
| Recurrent mycobacterial infections 0.4054054054054055 0.0406986146046167 0.9675361660674368 1.0 1.0 2 P42224 1 |
| Female infertility 0.4054054054054009 0.040698614604615 0.9675361660674382 1.0 1.0 2 Q15645 1 |
| Generalized hirsutism 0.272788768030251 0.0401424777222189 0.9679795367518376 1.0 1.0 24 Q06136,P07437 2 |
| Ectodermal dysplasia 0.4038697788697789 0.0400871129369884 0.9680236759305756 1.0 1.0 2 P21281 1 |
| Abnormal placental membrane morphology 0.4038697788697789 0.0400871129369884 0.9680236759305756 1.0 1.0 2 P21281 1 |
| Bone marrow foam cells 0.4300067468516764 0.0400010913695678 0.96809225620378 1.0 1.0 3 O15118 1 |
| Hypoplastic female external genitalia 0.2959340120569941 0.0373123130607253 0.9702359879273176 1.0 1.0 15 P16435,Q9Y619 2 |
| Simplified gyral pattern 0.2684937749350489 0.0372522414302147 0.9702838848546642 1.0 1.0 29 Q86XL3,Q13885 2 |
| Agenesis of lateral incisor 0.4245775729646605 0.0356897657035316 0.9715297311400648 1.0 1.0 3 P54132,P41227 2 |
| Anosmia 0.3437391330026271 0.0356483759083813 0.9715627344171608 1.0 1.0 4 Q9NQ48 1 |
| Abnormal circulating glutamine concentration 0.3885135135135147 0.0348061774979723 0.972234294686763 1.0 1.0 2 Q9UJS0 1 |
| Nephronophthisis 0.3276975099907845 0.0346728548801427 0.9723406065752978 1.0 1.0 5 Q7Z4L5,Q9NQH7,Q16658,Q8NCM8 4 |
| Abnormal circulating monocarboxylic acid cocentration 0.3234932349323572 0.0333134299966573 0.973424644116036 1.0 1.0 6 P37837,Q7Z2Z2,P61011,Q9H3U1,P28288 5 |
| Blepharophimosis 0.2653163168336189 0.0331527792241328 0.9735527541225806 1.0 1.0 49 Q9Y4P3,Q7LGA3,P07437,Q9Y619,O75844 5 |
| Capillary malformation 0.2906988723952932 0.032699725624156 0.9739140426956868 1.0 1.0 16 Q9Y4P3,Q9UHX1 2 |
| Premature osteoarthritis 0.3805282555282566 0.0326017552488361 0.9739921700897696 1.0 1.0 2 Q96HY6 1 |
| Sensory axonal neuropathy 0.2906365250451679 0.0324073889783464 0.9741471700318802 1.0 1.0 16 O95831,Q15067,O95140,Q8IV08 4 |
| Abnormality of canine 0.3792997542997529 0.0322921296879419 0.974239085532443 1.0 1.0 2 P25054 1 |
| Hypergalactosemia 0.3759213759213786 0.0314789381016918 0.9748875887799237 1.0 1.0 2 Q9UJS0 1 |
| Elevated tissue non specific alkaline phosphatase 0.3753071253071222 0.0313369688811083 0.975000807972191 1.0 1.0 2 Q13043 1 |
| Arterial thrombosis 0.3221048602408103 0.0304063742380248 0.975742961300864 1.0 1.0 6 Q9NZ08,O15460 2 |
| Abnormal posterior segment imaging 0.3396017605544738 0.0304022589851325 0.975746243280292 1.0 1.0 4 Q96S66 1 |
| Contractures involving the joints of the feet 0.2737257828859551 0.0298896730541111 0.9761550418802108 1.0 1.0 21 O60313,Q08J23,Q8IZA0,P50402,Q8TD16 5 |
| Epidermal acanthosis 0.3065595741656215 0.0290343402119866 0.9768372026031408 1.0 1.0 9 P16615 1 |
| Congenital hip dislocation 0.2708499715822264 0.028661845382899 0.9771342868302116 1.0 1.0 24 Q9UHX1,Q9Y487 2 |
| Recurrent acute respiratory tract infection 0.4146281783340296 0.0285206707644443 0.97724688184819 1.0 1.0 3 Q03518 1 |
| Abnormality of vitamin a metabolism 0.3233937903473795 0.0271023712065646 0.978378083507308 1.0 1.0 5 Q9NSD9,P61011,Q7Z2Z2,Q13043 4 |
| Widow s peak 0.3507371007371005 0.0269481157542648 0.9785011166133286 1.0 1.0 2 P21281 1 |
| Anorexia 0.2679958108511351 0.0262423836323878 0.97906401026116 1.0 1.0 26 Q13423,Q14108 2 |
| Low back pain 0.3445945945945967 0.0261832693219897 0.9791111604552208 1.0 1.0 2 Q8WVX9 1 |
| Eversion of lateral third of lower eyelids 0.3442874692874687 0.0261479263319842 0.9791393504296544 1.0 1.0 2 P61978 1 |
| Abnormality of the lymph nodes 0.2692624663617125 0.0258111575554184 0.979407962372455 1.0 1.0 37 Q13510 1 |
| Elevated circulating parathyroid hormone level 0.322539840060625 0.0256409470950369 0.9795437257371644 1.0 1.0 5 O14662 1 |
| Decreased methylcobalamin 0.3387592137592131 0.0255555847983612 0.9796118126843728 1.0 1.0 2 Q99707 1 |
| Insulin resistance 0.2740060869007007 0.0255554741757276 0.9796119009196468 1.0 1.0 19 O95140,O75431,P31751,O75844,O76024 5 |
| Upper limb amyotrophy 0.2891507253085809 0.0254791859848442 0.979672750275538 1.0 1.0 16 Q9NR77,Q9BQT8 2 |
| Reduced forced expiratory volume in one second 0.3378378378378376 0.0254645962942362 0.9796843873886288 1.0 1.0 2 Q96J02 1 |
| Shallow acetabular fossae 0.3249385749385733 0.0243953185977108 0.9805372824337732 1.0 1.0 2 Q9ULC3 1 |
| Increased susceptibility to fractures 0.264213076883745 0.0233494955464233 0.9813714907236112 1.0 1.0 49 O75718,P04062,O15269,Q14739,P10644,P16435,O43826,Q13126,Q14108 9 |
| Tracheal stenosis 0.3331099740266687 0.0226848707332182 0.981901644137258 1.0 1.0 4 Q15125 1 |
| Abnormal globus pallidus morphology 0.3040721977795534 0.0214283103158486 0.9829039903811004 1.0 1.0 10 Q8WWI5,O75306,O43819 3 |
| Acne inversa 0.4019383554742199 0.0206659535689611 0.9835121283326134 1.0 1.0 3 Q92542 1 |
| Abnormality of the lower urinary tract 0.290999875720952 0.018089533292619 0.9855674278093374 1.0 1.0 210 Q9UHX1,P21912,P04062,Q8TAA9,P07437,O95202,Q86XL3,Q7LG56,Q9NZJ7,Q9BV10,O76024,O43681,P51571,Q9Y619,P07196,P16435,Q99720,P07602,Q9BUB7,Q9Y5Y5,Q9UBX3,Q8NCH0,O75844,P21964,P50570,O75381,P40855,P53701,Q9Y4P3,Q15058,Q8WWI5,Q9NR77,Q6PGP7 33 |
| Megalocornea 0.2913277508344092 0.0168107936356332 0.98658755903845 1.0 1.0 15 Q9Y4P3,Q9Y5P6,O95202,Q96EK5,Q15056 5 |
| Constipation 0.2570398408987973 0.0156734976825759 0.9874948701860232 1.0 1.0 97 O76024,Q13423,Q7LGA3,Q9Y4P3,P04062,P21912,Q8TAA9,Q9Y5Y5,P03886,Q7LG56,Q05086,Q8NCH0,P21964,P00403,P42892 15 |
| Plantar hyperkeratosis 0.2656084845579846 0.0155050888240238 0.9876292246871908 1.0 1.0 33 P42167,Q06136,P21912,P16615 4 |
| Limb girdle muscular dystrophy 0.3092307692307591 0.0153617086362919 0.9877436119014642 1.0 1.0 8 O14979,Q9BTV4,P09651,Q7Z392,Q13642,P50402,P02545 7 |
| Acanthocytosis 0.3892473118279488 0.0141294461204581 0.9887267081913788 1.0 1.0 3 Q9Y6B6,Q05682 2 |
| Abnormality of the musculature of the upper limbs 0.2594124075358708 0.0135343160262817 0.9892015078764532 1.0 1.0 80 Q8TD16,O60313,Q9H3H5,Q9NR77,Q9BQT8,Q9Y487,Q7LG56,P50402,Q9NZJ7,P07196,P50570,P07602 12 |
| Abnormal glial cell morphology 0.2536520241857193 0.0131761435196111 0.9894872627030415 1.0 1.0 58 Q10713,P04062,O43819,Q9H9P8,Q9UHD9,P00846,Q7KZN9,P49770 8 |
| Abnormality of vitamin k metabolism 0.3232944068838387 0.0121722927984176 0.9902881553326076 1.0 1.0 4 P61011,Q7Z2Z2,Q13043 3 |
| Abnormality of neutrophil physiology 0.3232944068838387 0.0121722927984176 0.9902881553326076 1.0 1.0 4 P06744,P61011,Q7Z2Z2 3 |
| Abnormality of vitamin e metabolism 0.3232944068838387 0.0121722927984176 0.9902881553326076 1.0 1.0 4 P61011,Q7Z2Z2,Q13043 3 |
| Metaphyseal chondrodysplasia 0.3232944068838386 0.012172292798417 0.990288155332608 1.0 1.0 4 O95831,P61011,Q7Z2Z2 3 |
| Hepatocellular carcinoma 0.2696412897399735 0.0112438275665378 0.9910289126070092 1.0 1.0 22 P16930 1 |
| Adenomatous colonic polyposis 0.312634491238861 0.0096655452911778 0.992288130717975 1.0 1.0 5 P28340,P25054,P20585,P78549 4 |
| Irritability 0.2589014744634853 0.0088775418255481 0.9929168394778332 1.0 1.0 78 O43175,Q9NZ08,P21912,P00846,Q9H6U8,Q9NZJ7,Q13510,P50897,Q15067,P07602 10 |
| Lymphoproliferative disorder 0.3110807218129389 0.0073211757085393 0.9941585991180832 1.0 1.0 5 P50851 1 |
| Soft tissue sarcoma 0.2634645182333861 0.0069214547131545 0.9944775222399088 1.0 1.0 32 Q13126,Q15392 2 |
| Spondyloepimetaphyseal dysplasia 0.3107155574082932 0.0068027201666309 0.994572256470898 1.0 1.0 7 Q96HY6,O95831,Q7RTS9 3 |
| Fibroadenoma of the breast 0.3167286365178488 0.0058862081393774 0.9953035125241504 1.0 1.0 4 P10644,P49327 2 |
| Abnormal cardiac test 0.2668714886725443 0.0056090190369567 0.9955246737756188 1.0 1.0 24 O14662,Q9H3H5,Q7LG56,P40939,P10253 5 |
| Myotonia 0.3091356505690535 0.0036248330195406 0.9971078080318396 1.0 1.0 7 Q9BTV4,Q13642,P08237,P50402,P02545,Q00577 6 |
| Type 1 muscle fiber atrophy 0.3091356505690523 0.0036248330195384 0.9971078080318414 1.0 1.0 7 P06753,Q9BTV4,Q13642,P61978,P50402,P02545 6 |
| Abnormality of pain sensation 0.2635357065760033 0.0028791886935605 0.9977027429677094 1.0 1.0 28 Q9NR77,O15269,Q8NCH0 3 |
| Spastic paraparetic gait 0.3559406371862738 0.0022091200994765 0.9982373786133294 1.0 1.0 3 Q15041 1 |
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