| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Mental deterioration 0.5317927870842067 4.398113390069312 1.091959289212241e-05 0.0484079938423203 0.0496186301018087 94 Q9NZJ7,Q9BQE5,Q13510,Q10713,Q96RL7,O95470,P22626,Q5XKP0,P00846,O60313,P27544,P50897,Q03164,Q9Y487,O43464,Q9NPL8,Q14108,Q9UBB4,P04062,P21964,P35670,P43243,P03886,O00429,Q9NQZ5,P17900,O76024,P07686,P54802,O95140,P16278,P09651,O15118,O43819,P20700,O75503,P21912,O60220,P07602,P00403,P06865,P35637,Q8WVX9 43 |
| Muscle abnormality related to mitochondrial dysfunction 0.6623040322993706 3.571176109533658 0.0003553818302053 0.8011375798776735 0.3690054588471179 35 Q9NPL8,Q9Y2R0,O43676,P00403,Q86Y39,O60313,P00846,Q8IUX1,O96000,Q9Y6M9,Q9UBX3,Q96CU9,P03886 13 |
| Optic neuropathy 0.7376569745876322 3.4849678298020037 0.0004921962134825 0.893231269712493 0.3690054588471179 22 Q9NPL8,Q9P0J0,O43676,Q86Y39,P00846,Q8IUX1,O96000,Q96CU9,P03886 9 |
| Abnormal brainstem mri signal intensity 0.7484835982247714 3.479026092486656 0.0005032395855979 0.8984593689053515 0.3690054588471179 21 Q9NPL8,O95831,O43676,Q86Y39,Q8IUX1,O96000,Q96CU9,P03886 8 |
| Increased csf lactate 0.5647400694583017 3.434341972407167 0.0005939943042716 0.932788577230685 0.3690054588471179 50 Q9NWS8,Q9NPL8,O43819,O95831,Q9P0J0,Q7KZN9,O43676,P00403,Q86Y39,P00846,P13073,Q8IUX1,O96000,Q9Y6M9,Q8NI60,Q96CU9,P03886 17 |
| Dementia 0.5559614994176383 3.4303649980017967 0.0006027698340227 0.93541750930309 0.3690054588471179 57 Q9NZJ7,Q13510,P04350,Q96RL7,P22626,P00846,O60313,P27544,Q9Y487,O43464,Q14108,Q9UBB4,P04062,P35670,P43243,P03886,O00429,Q9NQZ5,P17900,O76024,P09651,O15118,P35637,P20700,O60220,P07602,P00403,P31483,P06865,P21912,Q8WVX9 31 |
| Abnormality of the mitochondrion 0.454014380337571 3.2943784313350215 0.0009863960175484 0.988716294244974 0.3690054588471179 91 Q7KZN9,O43676,O00330,P00846,Q86Y39,Q70HW3,P23786,Q9NPL8,Q16836,Q9Y584,O43772,Q9Y2R0,P09622,P13073,Q9Y6M9,P03886,Q9BUB7,Q9P0J0,Q8IUX1,P21912,P00403,Q9Y4W6,P35914,O96000,P35637,Q9UBX3,Q96CU9,Q4J6C6 28 |
| Cognitive impairment 0.4784404078434936 3.2912095467019933 0.0009975757394486 0.9892757383715586 0.3690054588471179 153 Q9NZJ7,Q9BQE5,O95831,Q13510,Q10713,Q9Y619,Q96RL7,O95470,O75381,P22626,Q5XKP0,P00846,O60313,P27544,P50897,Q03164,Q9Y487,O43464,Q9NPL8,Q14108,Q9Y2R0,Q9UBB4,P04062,Q9UJS0,P21964,P40855,P43243,Q6DKK2,P03886,P35670,O00429,Q9NQZ5,P17900,O76024,Q01082,P07686,Q99720,P54802,O95140,P16278,P09651,P06280,O15118,Q9UMX1,O43819,P20700,Q9NZ08,Q6PI48,O75503,P21912,O60220,P07602,P00403,Q9Y4W6,Q9NR50,P06865,P35637,Q8WVX9 58 |
| Mitochondrial myopathy 0.6679829215164292 3.2903721194835134 0.0010005496897522 0.9894198302368706 0.3690054588471179 28 Q9NPL8,O43676,P00403,Q86Y39,O60313,P00846,Q8IUX1,O96000,Q9Y6M9,Q96CU9,P03886 11 |
| Abnormality of hepatobiliary system physiology 0.5023381778360938 3.2552093068786565 0.0011330882571418 0.9942102851748528 0.3690054588471179 75 P55263,P50416,Q13510,Q10713,Q9Y619,O75381,Q5XKP0,P00846,P23786,Q16836,O43772,P09622,P22695,Q8N511,Q9BT22,O15460,P04062,P35670,P40855,P03886,Q16625,O15118,Q13043,O43819,P16930,P01889,Q9NWS8,Q8TCJ2,P22830,Q9H845,P35914,Q96A33,O75845 33 |
| Abnormal activity of mitochondrial respiratory chain 0.5427359685472357 3.252228440966575 0.0011450395331691 0.994516659421334 0.3690054588471179 53 Q9NPL8,Q9Y584,Q9P0J0,Q7KZN9,Q9Y2R0,O43676,Q86Y39,P13073,Q70HW3,Q8IUX1,O96000,Q9UBX3,Q96CU9,P03886 14 |
| Ragged red muscle fibers 0.7812372310041931 3.247579526612656 0.0011639113248795 0.9949677763009744 0.3690054588471179 16 O95831,P00846,Q9H2D1,Q70HW3,P03886 5 |
| Decreased activity of mitochondrial complex i 0.6230455875373293 3.2282965002444715 0.0012452982647681 0.9965250027359416 0.3690054588471179 34 Q9NPL8,Q9Y584,O43676,Q86Y39,Q70HW3,Q8IUX1,O96000,Q9UBX3,Q96CU9,P03886 10 |
| Hepatic failure 0.5429323060519378 3.2025623878887157 0.0013621079262937 0.9979576161036888 0.3690054588471179 46 P50416,Q13510,Q10713,Q9Y619,O75381,P00846,P23786,Q16836,O43772,P09622,O15460,P04062,P35670,P40855,P03886,O15118,Q13043,P16930,P01889,P22830,O75845 21 |
| Abnormal mitochondria in muscle tissue 0.7024725183364018 3.1911844414846953 0.0014169079594985 0.9984083680610168 0.3690054588471179 21 Q9NPL8,O43676,P00403,Q86Y39,Q8IUX1,O96000,Q96CU9,P03886 8 |
| Abnormality of the cerebrospinal fluid 0.4556363778086861 3.171699316375595 0.0015154983072522 0.998983762064178 0.3690054588471179 125 Q9NZJ7,O95831,Q7KZN9,O43676,Q10713,P48651,O43505,O00330,P00846,Q86Y39,P23786,P16435,Q08J23,Q03252,O43464,Q9H490,Q9NPL8,P13073,O95202,P04062,Q6NUK1,P21964,Q9Y6M9,P40855,P03886,P53701,Q8NI60,Q9HC21,Q8TAA9,Q12768,Q9P0J0,Q01082,Q16625,P08236,O95140,Q15392,Q9UMX1,Q8IUX1,O43819,P20700,Q9NWS8,P07602,P00403,O96000,Q96CU9 45 |
| Horizontal nystagmus 0.6863720052136978 3.156903073151925 0.0015945433954105 0.9992908106869256 0.3690054588471179 22 Q9NZJ7,O14773,O95831,P07602,P00846,O60313,P04062,Q9NW15,P20700,Q9H061,Q8WVX9 11 |
| Abnormal csf metabolite level 0.5319750639990286 3.156895519748899 0.0015945846992531 0.9992909439909328 0.3690054588471179 54 O95831,Q7KZN9,O43676,O00330,Q86Y39,P00846,O43464,Q9NPL8,P13073,Q9Y6M9,Q8NI60,Q9HC21,P03886,Q9P0J0,Q01082,Q8IUX1,O43819,Q6PI48,Q9NWS8,P00403,O96000,Q96CU9 22 |
| Abnormal circulating lipid concentration 0.4996335948059858 3.139705382253069 0.00169117821383 0.999543179146566 0.3690054588471179 72 Q9NZJ7,P50416,O95470,O75381,Q14739,O75880,P23786,O75431,Q03252,Q16836,O43772,P09622,P31751,Q8N511,P37268,Q9UJS0,P35250,P40855,Q15800,P50402,P49257,P06280,Q15392,P22830,P02545,P07602,Q9NVI7,O75844,Q15904,Q9H845,P35914,O75845 32 |
| Myoclonus 0.4594608244007396 3.13310313279713 0.0017296865430282 0.9996166265217376 0.3690054588471179 86 Q9NZJ7,Q13510,Q96AA3,Q10713,P00846,P27544,P50897,Q03252,O14773,Q9NPL8,Q14108,P13073,P04062,Q8NI60,P03886,Q9NQZ5,O75503,Q9NWS8,Q9H936,Q01105,P07602,P00403,Q5THJ4,Q9Y4W6,O75845,Q9UBX3,Q96CU9 27 |
| Abnormal retinal artery morphology 0.6815984688347907 3.1257073498703787 0.0017737797329595 0.9996863434473778 0.3690054588471179 22 Q9NZJ7,P17900,Q13510,P10619,P07686,P07602,P16278,P00846,P06865,P21964,P03886 11 |
| Focal t2 hyperintense brainstem lesion 0.7208751869873283 3.116421280364056 0.0018306054778025 0.999757835747388 0.3690054588471179 18 Q9NPL8,O43676,Q86Y39,Q8IUX1,O96000,Q96CU9,P03886 7 |
| Sensorimotor neuropathy 0.647832622342439 3.1104910897787628 0.0018677653066645 0.9997955242999916 0.3690054588471179 27 Q9NZJ7,O95831,Q9Y2R0,P05023,P07602,P00403,Q5THJ4,P00846,O60313,Q5KU26,P03886 11 |
| Optic disc pallor 0.528840952567164 3.0784599488776094 0.0020807349646623 0.9999224594764792 0.3939524866427333 48 O95831,O43676,Q10713,Q86Y39,O60313,P00846,Q9BUK6,Q9H061,Q9NPL8,Q8WWY3,Q96S66,Q9NX14,Q6P4Q7,Q9Y6M9,P03886,O00429,P04439,P51798,O95140,Q8IUX1,Q9H0B6,Q9Y4W6,O96000,Q96CU9 24 |
| Proximal tubulopathy 0.6538324822942883 2.9786746140201337 0.0028949802625235 0.9999981004025672 0.5190334367433446 23 Q9NPL8,O43676,P00403,Q86Y39,Q8IUX1,O96000,Q96CU9,P03886 8 |
| Hypertrophic cardiomyopathy 0.4300839371197663 2.9708444493189807 0.0029698216010842 0.9999986493813284 0.5190334367433446 105 P09493,P50416,Q7KZN9,O43676,Q5XKP0,P00846,Q86Y39,O60313,Q9H061,Q9NPL8,Q16836,P09622,P15586,P35250,Q9Y6M9,P03886,P53701,Q9BUB7,P50402,Q9P0J0,P54802,P16278,Q13423,P06280,Q9UMX1,Q8IUX1,O43819,P16930,P10253,P01889,P21912,P02545,P00403,Q9NVI7,Q9H845,O96000,Q9Y4P3,Q96CU9 38 |
| Abnormality of head blood vessel 0.6371280129538615 2.944168164379998 0.0032382399582224 0.9999996026461212 0.5322105661503168 25 Q9NZJ7,P17900,Q13510,P10619,P07686,P07602,P16278,P00846,P06865,P21964,P03886 11 |
| Increased serum lactate 0.4248453928722613 2.905100199857357 0.0036713554742235 0.9999999448571302 0.5322105661503168 104 O95831,Q7KZN9,O00330,Q5XKP0,P00846,O75880,Q86Y39,Q70HW3,O43464,Q9Y584,P22695,P09622,Q6P4A7,P13073,Q9Y6M9,Q8NI60,P35610,P03886,Q9BUB7,O00429,Q9BWD1,Q9P0J0,Q07021,Q8IUX1,O43819,Q6PI48,Q9NWS8,O14949,Q5JRX3,Q3ZCQ8,P00403,Q9NVI7,O75208,Q9H845,P35914,P21912,Q7L0Y3,Q9UBX3,Q96CU9 39 |
| Myoclonic seizure 0.5063241837783877 2.8756957489020256 0.004031380908521 0.9999999893277508 0.5322105661503168 51 Q9NZJ7,Q01105,Q13510,O43292,Q96N66,P07686,O43175,Q9H936,Q9Y619,P16278,P07602,Q9Y4W6,O00330,P00846,P04062,P21912,P03886,O75503 18 |
| Phenotypic variability 0.4170496264939923 2.8614147190900656 0.0042175495350271 0.9999999954360292 0.5322105661503168 96 Q9NZJ7,Q15058,Q13510,P04350,O95470,O00330,P00846,O60313,Q70HW3,Q9BVA1,Q9H061,Q969G3,P09622,Q6P4A7,P50995,Q9UBB4,Q92733,Q8NI60,P43243,P03886,O00429,P17900,O95140,Q9UMX1,Q6PI48,Q9NWS8,P36551,P02545,P07602,P00403,Q8TD16,Q5THJ4,O14979,Q9Y4W6,P21912 35 |
| Bulbar signs 0.7787809448081063 2.8514696157741 0.0043517645096509 0.9999999975263474 0.5322105661503168 13 Q9NZJ7,P07602,Q99720,P00846,P04062,P35637,P03886 7 |
| Toe walking 0.6490223334758095 2.8439196021767903 0.0044562290704737 0.9999999984644186 0.5322105661503168 21 P50402,O95831,P02545,Q99720,P07602,P35637 6 |
| Episodic vomiting 0.7974891677263911 2.8428791850475705 0.0044708014206353 0.999999998563233 0.5322105661503168 11 P61978,P36551,Q9Y619,P00403,P00846,P35914,Q2TAA5,P03886 8 |
| Abnormal circulating cholesterol concentration 0.5826406820935418 2.7833809431477294 0.005379560203037 0.9999999999773466 0.5322105661503168 31 O75845,P50402,Q9UJS0,P02545,P07602,Q8N511,Q15904,Q15392,Q14739,P37268,O75431,Q15800 12 |
| Poor head control 0.4772872806897195 2.7739129773609106 0.0055386491789211 0.9999999999890488 0.5322105661503168 67 Q9NPL8,Q9NWM8,P17900,Q9P0J0,P02545,O43676,Q10713,P07602,Q86Y39,P13073,P06865,Q8IUX1,O96000,Q9Y6M9,Q5KU26,Q96CU9,P03886,P21912 18 |
| Generalized myoclonic seizure 0.5396748439736692 2.7598774362332033 0.0057823050288132 0.9999999999964034 0.5322105661503168 39 Q9NZJ7,Q01105,Q13510,Q96N66,O43175,P07602,Q9Y619,P16278,Q9Y4W6,O00330,P00846,P04062,P21912,P03886,Q9H936 15 |
| Paroxysmal involuntary eye movements 0.6500711809816218 2.730699888232126 0.0063199994249756 0.999999999999692 0.5322105661503168 19 Q9NPL8,O43676,Q86Y39,Q8IUX1,O96000,Q96CU9,P03886 7 |
| Left ventricular hypertrophy 0.6149852359401954 2.712023784148854 0.0066873794299475 0.9999999999999426 0.5322105661503168 23 P10253,P06280,P00403,O75208,O75880,Q07021,Q15233,P21912,O75431,Q6NUK1,P03886 11 |
| Delusions 0.6453574006763261 2.7001665463442484 0.0069304772492284 0.9999999999999812 0.5322105661503168 19 Q9NZJ7,Q9BQE5,P36551,O60220,P07602,Q96RL7,Q9NR50,P04062,O43681,Q9UJS0,P21964 11 |
| Impaired proprioception 0.5420979358401579 2.69202236759392 0.0071020181967516 0.9999999999999916 0.5322105661503168 37 O00400,O14773,Q12768,O75298,Q9Y619,Q96RL7,P54802,O95140,Q5THJ4,O00165,P00846,Q8IV08,O43819,P20700,Q6PI48,Q8WVX9 16 |
| Splenomegaly 0.4387600671202945 2.6462228200541857 0.0081396181272361 1.0 0.5322105661503168 80 Q9NZJ7,Q13510,O75533,P11413,Q10713,P00813,Q14739,Q14108,P15586,Q9BT22,P04062,P04066,P21964,P35670,Q16625,P54802,P16278,Q15392,O15118,Q13043,P10253,P16930,Q9NZ08,P36551,P02545,P07602,Q15904,P33991,Q96A33,Q96HY6 30 |
| Abnormal muscle fiber morphology 0.4646006839208472 2.630528099491045 0.0085252321616555 1.0 0.5322105661503168 67 O95831,O43676,P22626,P00846,O60313,Q9H2D1,Q70HW3,P23786,Q9BUK6,P61978,Q8NI60,P03886,P50402,Q99720,P09651,P02545,P00403,Q9Y4W6,O14979,P35637 20 |
| Cherry red spot of the macula 0.8228812068675161 2.628906254627058 0.0085659971125384 1.0 0.5322105661503168 9 P17900,Q13510,P10619,P07686,P07602,P16278,P06865 7 |
| Morphological abnormality of the pyramidal tract 0.6078132500082721 2.6282224350271357 0.0085832370328871 1.0 0.5322105661503168 22 O00400,O95831,Q12768,O75298,Q9Y619,P00846,Q9UBB4,P35637,P35250 9 |
| Elevated hepatic transaminase 0.398851758902596 2.625740999241758 0.0086460578378366 1.0 0.5322105661503168 93 P55263,P50416,Q13510,Q10713,Q9Y619,Q96RL7,Q5XKP0,Q14739,O75880,Q9HC07,P23786,O75431,Q2TAA5,Q15067,Q16836,O43772,P22695,P09622,Q8N511,Q9UJS0,P35670,P40855,Q01082,Q16625,Q07021,Q13043,P10253,P16930,P01889,Q15904,Q9H845,P35914,O75845 33 |
| Ventricular hypertrophy 0.5285281156720916 2.6169545650769854 0.0088718149452629 1.0 0.5322105661503168 38 O43772,P02545,P00403,P06280,O75844,O75208,O75880,Q07021,Q15233,P23786,O75431,P10253,P03886,P21912 14 |
| Abnormal cardiac ventricular function 0.6524547924568636 2.588221808567388 0.0096472836977881 1.0 0.5322105661503168 17 P02545,P09622,P00403,O75844,Q15233,P21912,P03886 7 |
| Increased serum pyruvate 0.552418569954464 2.586468528655076 0.0096965024854804 1.0 0.5322105661503168 32 Q9NPL8,Q9BWD1,O95831,Q5JRX3,O43676,Q86Y39,Q70HW3,Q8IUX1,O96000,Q9Y6M9,Q96CU9,P03886 12 |
| Schizophrenia 0.6629685458130691 2.5588185031038937 0.0105028559699533 1.0 0.5322105661503168 16 Q9NZJ7,Q9BQE5,O76024,P07602,P04062,P16615,P21964 7 |
| Abnormality of corneal stroma 0.7388039663149745 2.542006618934792 0.0110218086282767 1.0 0.5322105661503168 11 Q13510,P10619,Q16625,P16278,P04062,O75845 6 |
| Lower limb spasticity 0.4469321449747727 2.5283163886872835 0.0114611017262322 1.0 0.5322105661503168 72 Q9NZJ7,O95831,Q7KZN9,Q9Y619,O00330,Q5XKP0,O60313,P00846,Q9UBB4,P04062,Q6DKK2,O00429,Q12768,Q9P0J0,O75298,Q99720,P35637,Q9H2M9,O00400,P07602,Q9Y4W6,P21912,Q96CU9,Q8WVX9 24 |
| Polyneuropathy 0.6108629810920414 2.5283082300633204 0.0114613680886574 1.0 0.5322105661503168 20 Q9NZJ7,O95831,Q01082,P07602,P00846,O60313,P04066,P35670,Q9HC21,P03886 10 |
| Blindness 0.4354073690125958 2.5142831908411827 0.011927461491165 1.0 0.5322105661503168 77 Q9NZJ7,Q15058,O43676,P00846,Q86Y39,P50897,Q9NPL8,Q9Y6M9,P03886,P53701,P17900,P07686,P16278,Q8IUX1,Q9NZ08,P07602,P06865,O96000,P21912,Q96CU9 20 |
| Renal tubular dysfunction 0.5108283537876666 2.5036713807969155 0.0122912136655832 1.0 0.5322105661503168 39 P50416,Q9NPL8,O43819,O43676,P16930,P00403,Q86Y39,Q8IUX1,O96000,Q9Y6M9,P40855,Q96CU9,P03886 13 |
| Hepatomegaly 0.4269644528044439 2.4953126125188385 0.0125846205011141 1.0 0.5322105661503168 163 Q9NZJ7,P50416,Q13510,Q96AA3,O75533,O43676,Q10713,Q9Y619,Q96RL7,P00813,O75381,P00846,Q86Y39,Q14739,Q9HC07,P23786,O75431,Q15067,Q9NPL8,Q14108,P09601,O43772,P09622,P31751,P15586,Q9BT22,P04062,P04066,Q9UJS0,Q9Y6M9,P40855,P35670,P35610,P03886,Q9HC21,Q9BUB7,P07686,Q16625,P54802,P16278,O15118,Q07021,Q8IUX1,Q13043,P10253,P16930,Q9NWS8,P36551,P02545,P07602,Q15904,P33991,Q01844,Q96A33,P35914,O96000,O75845,Q96CU9,Q96HY6 59 |
| Abnormal retinal vascular morphology 0.4689650999839153 2.4831325466515666 0.0130232618870269 1.0 0.5322105661503168 48 Q9NZJ7,P17900,Q13510,Q96S66,P10619,P07686,P07602,P16278,P00846,P06865,P21912,P35250,P21964,P03886 14 |
| Depression 0.3977567504678296 2.471351913864307 0.0134603286634831 1.0 0.5322105661503168 90 Q9NZJ7,Q96RL7,Q9BUK6,Q08J23,P50897,O43464,P51812,Q92804,P50995,O15460,Q15165,Q9UBB4,P04062,P35250,P21964,P35670,P43243,Q6DKK2,P03886,O76024,Q01082,P06280,P09651,Q13043,P20700,P01889,P36551,Q96N66,P07602,P00403,Q9Y4W6,P35637 32 |
| Limb ataxia 0.5844143165597618 2.4641738548906544 0.0137329481594488 1.0 0.5322105661503168 22 O14773,Q14108,O75298,Q10713,Q5THJ4,Q9UBB4,P04062,Q8IV08,Q9BUK6,Q9NW15 10 |
| Abnormality of femur morphology 0.4568233775431673 2.4377848692088775 0.0147775655926145 1.0 0.5322105661503168 60 O95831,O75718,Q9Y619,Q14739,Q9UHX1,P16435,O75431,O00116,Q9Y487,P04062,P04066,Q32P28,P16278,Q7LGA3,P02545,P07602,O75844,Q96A33,Q96HY6 19 |
| Clumsiness 0.605132643675575 2.4350286654960636 0.0148906100067882 1.0 0.5322105661503168 19 Q9NZJ7,O14773,O43819,Q13510,Q6PI48,P07602,O00165,P31483,O43681,P35670,Q15067,O75503 12 |
| Neuronal loss in central nervous system 0.7166103259685896 2.42524108333211 0.0152982238277743 1.0 0.5322105661503168 11 P07602,O15118,P04062,P35637,O43819 5 |
| Respiratory distress 0.4618661144870774 2.4202325936370523 0.0155105824656396 1.0 0.5322105661503168 51 O95831,Q13510,Q8TCJ2,P07602,Q9Y619,P00846,Q9UHX1,P04062,P23786,O43819,P03886,P53701 12 |
| Thin ribs 0.7043338259324281 2.419585393074656 0.0155382119975864 1.0 0.5322105661503168 12 O95831,P02545,Q9Y619,O75844,O75431 5 |
| Amyotrophic lateral sclerosis 0.6612050996584411 2.419243565467045 0.0155528223741294 1.0 0.5322105661503168 15 Q92804,Q99720,P09651,P22626,P50995,Q15165,P35637,P43243 8 |
| Impaired social interactions 0.4626136593559449 2.4158564368013673 0.0156982494551147 1.0 0.5322105661503168 47 O43464,Q9NPL8,Q9P0J0,Q9Y6M9,O43676,O75746,Q5XKP0,Q86Y39,Q9UHX1,P03886,Q8IUX1,O96000,Q2TAA5,Q5KU26,Q96CU9,Q15067 16 |
| Progressive cerebellar ataxia 0.5146177850885574 2.41564457066503 0.0157073855957938 1.0 0.5322105661503168 36 Q9Y487,O14773,Q9P0J0,Q7KZN9,O76024,Q9Y619,Q5THJ4,Q9UBB4,P35637,Q9BUK6,Q96CU9,Q9NW15 12 |
| Severe muscular hypotonia 0.5488423161659782 2.410774558780332 0.015918684738817 1.0 0.5322105661503168 28 Q9NWS8,Q9NWM8,Q01105,O95831,P02545,O43505,Q8TD16,O75381,Q5H8A4,P40855 10 |
| Impaired vibratory sensation 0.5402038921700028 2.409785358654428 0.0159619080848485 1.0 0.5322105661503168 30 O00400,O14773,Q12768,O75298,Q9Y619,Q96RL7,O95140,O00165,P00846,O43819,P20700,Q6PI48,Q8WVX9 13 |
| Abnormal csf protein level 0.7763673247997965 2.4076602250034833 0.016055115453464 1.0 0.5322105661503168 9 Q16625,P07602,P00403,P20700,P03886 5 |
| Ectopic calcification 0.4614823670387504 2.406116250465378 0.016123133214893 1.0 0.5322105661503168 48 O75845,P53634,P02545,O43175,Q16625,P00403,O75381,O75844,Q14739,O60313,P04062,P23786,O75431,P40855,P03886,O00116 16 |
| Abnormality of the spleen 0.3919908397835442 2.396345903956719 0.0165594547648588 1.0 0.5322105661503168 108 Q9NZJ7,Q13510,O75533,P11413,Q10713,P00813,Q14739,Q14108,P10619,P15586,O95202,Q9BT22,P04062,P04066,Q9UJS0,P21964,P35670,P07686,Q16625,P54802,P16278,Q15392,O15118,Q13043,P10253,P16930,Q9NZ08,P36551,P02545,P07602,Q15904,P33991,Q96A33,O75845,Q96HY6 35 |
| Abnormal femoral neck head morphology 0.4938449786025414 2.3939116767349327 0.0166697624366896 1.0 0.5322105661503168 40 Q9Y487,O95831,O75718,P02545,Q9Y619,P16278,O75844,Q14739,Q7LGA3,P04066,Q96A33,O75431 12 |
| Dermal atrophy 0.5605632993363832 2.391895374239888 0.0167616197537692 1.0 0.5322105661503168 25 Q9NWM8,P02545,Q15392,O75844,P53634,Q8NCH0 6 |
| Abnormal circulating carbohydrate concentration 0.5073388452079538 2.389417007374026 0.0168751360542531 1.0 0.5322105661503168 37 Q9NPL8,Q9BWD1,O95831,Q5JRX3,O43676,Q86Y39,Q70HW3,Q8IUX1,Q9UJS0,Q9Y6M9,O96000,Q96CU9,P03886 13 |
| Elevated pulmonary artery pressure 0.5694777638283988 2.3887111626047544 0.0169075889762022 1.0 0.5322105661503168 23 Q14108,P02545,P00403,O75844,P04062,O96000,P03886 7 |
| Abnormal social behavior 0.4499971199408855 2.386318567602233 0.0170180022084442 1.0 0.5322105661503168 62 Q9NZJ7,O43676,Q86Y39,Q5XKP0,Q9UHX1,O43681,Q2TAA5,Q10471,Q15067,O43464,Q9NPL8,Q9NX14,O75746,P35250,Q9Y6M9,P03886,Q9P0J0,Q01082,Q15233,Q8IUX1,Q15056,Q96T58,P07602,O96000,Q9Y4P3,Q5KU26,Q96CU9 27 |
| Incomplete penetrance 0.5436556325177618 2.37041601359374 0.0177680802331148 1.0 0.5322105661503168 28 P36551,O95140,O14979,P00846,O60313,P50995,Q9UBB4,Q9UMX1,P21912,Q92733,P03886,Q969G3 12 |
| Sensory neuropathy 0.5172037826708523 2.369456667970054 0.0178142424249616 1.0 0.5322105661503168 34 O95831,O60220,Q96RL7,O95140,P09651,P22626,P00846,O60313,P00403,P03886,O15269,Q8IV08,Q15067,Q03001 14 |
| Hyperlipidemia 0.5434502200891116 2.3688139528189507 0.0178452276132612 1.0 0.5322105661503168 28 P50416,Q9UJS0,P50402,P49257,P02545,P31751,O95470,O75844,P23786,O75431 10 |
| Fetal distress 0.5573159472310178 2.367682071927805 0.0178999102155907 1.0 0.5322105661503168 25 Q9NPL8,O43676,Q86Y39,Q8IUX1,O96000,Q96CU9,P03886 7 |
| Hemiparesis 0.6714239042685162 2.3619481341002646 0.0181791853683304 1.0 0.5322105661503168 14 O00429,P00403,O60313,Q9NZ08,P35914,Q9UMX1,Q9BVA1,P03886,P01889 9 |
| Mania 0.703799726407605 2.3570783049594626 0.0184193623260118 1.0 0.5322105661503168 11 P16615,P21964,P00403,P03886 4 |
| Basal ganglia cysts 0.8234424664076416 2.3557932760084905 0.0184832004566215 1.0 0.5322105661503168 7 P00846 1 |
| Nasogastric tube feeding in infancy 0.8219108309221278 2.3489330004232216 0.0188272942458391 1.0 0.5322105661503168 7 Q9UHX1,P07602,P61978 3 |
| Abnormality of pulmonary circulation 0.5443561940510339 2.3463094339819417 0.0189603591698663 1.0 0.5322105661503168 27 Q14108,P02545,P00403,O75844,P04062,O96000,Q9NZ08,P03886 8 |
| Progressive psychomotor deterioration 0.7911047575568649 2.343712779401192 0.0190928681691009 1.0 0.5322105661503168 8 P07686,Q10713,P07602,P16278,P21912 5 |
| Progressive neurologic deterioration 0.575310063216594 2.340333564341465 0.0192665236329117 1.0 0.5322105661503168 21 Q9NPL8,P07686,Q10713,P54802,P16278,P07602,P04062,P21912,P20700 9 |
| Poor eye contact 0.4964444057991656 2.33152027306182 0.0197259423442932 1.0 0.5322105661503168 38 Q9NPL8,Q9P0J0,O43676,Q86Y39,Q9UHX1,Q8IUX1,O96000,Q9Y6M9,Q5KU26,Q96CU9,P03886 11 |
| Visual loss 0.4537903234704962 2.3315103281155225 0.019726466111142 1.0 0.5322105661503168 50 Q9NZJ7,Q10713,P00846,O60313,P50897,O14773,P00558,O15460,P03886,P53701,O00429,P04439,Q01082,O95140,Q9UMX1,O75503,O60220,P07602,P00403,O75533 20 |
| Biliary tract abnormality 0.5569132249115799 2.3297115947318763 0.0198213993160887 1.0 0.5322105661503168 24 Q9NZJ7,Q14108,P09601,P02545,Q10713,P07602,O95202,Q14739,P04062,Q13043 10 |
| Abnormal biliary tract morphology 0.5720782951113108 2.3175667563684637 0.0204728786707855 1.0 0.5322105661503168 21 Q9NZJ7,Q14108,P09601,P02545,Q10713,P07602,Q14739,P04062,Q13043 9 |
| Delayed cranial suture closure 0.5328834500191494 2.3172362114016147 0.0204908679603312 1.0 0.5322105661503168 29 Q9Y487,O75718,Q32P28,P02545,P48651,O75381,Q8NCH0,O75844,P16435,O75431,P40855,Q08J23 12 |
| Abnormal tissue metabolite concentration 0.6798820570248898 2.3161383969868825 0.0205507134112179 1.0 0.5322105661503168 13 Q9NZJ7,P17900,P07686,P07602,O75381,P06865,P40855,Q5T8D3 8 |
| Premature rupture of membranes 0.8805142446415957 2.3126382500638853 0.0207425366736004 1.0 0.5322105661503168 6 Q9Y487,P02545 2 |
| Abnormal vascular physiology 0.4577529345046915 2.304394452442549 0.0212005111377409 1.0 0.5322105661503168 45 Q9NWM8,Q14108,Q8IZA0,P02545,P00403,P06280,O75844,Q14739,O15460,P04062,O96000,P35250,Q6NUK1,Q9NZ08,P03886,P01889 16 |
| Fluctuations in consciousness 0.8775998463712624 2.3002534676966033 0.0214338642504352 1.0 0.5322105661503168 6 O43819,P00403,P03886,P04062 4 |
| Generalized onset motor seizure 0.4500242582563496 2.291822401265988 0.0219158934770467 1.0 0.5322105661503168 50 Q9NZJ7,Q01105,Q13510,Q96N66,O43175,P07602,Q9Y619,P16278,Q9Y320,O00330,P00846,Q9Y4W6,P04062,P21912,P03886,Q9H936 16 |
| Decreased activity of mitochondrial complex iv 0.6051345869488503 2.2874155894770873 0.0221715772105599 1.0 0.5322105661503168 17 Q9Y584,Q70HW3,Q9Y2R0 3 |
| Abnormal vertebral morphology 0.3799548660974122 2.286012576898594 0.0222535227923768 1.0 0.5322105661503168 100 O95831,O75718,Q10713,Q9Y619,P00813,P48735,Q14739,Q9UHX1,Q5H8A4,P16435,Q14108,P61978,P10619,P15586,O95202,P04062,P04066,Q8NCH0,Q8TAA9,P54802,P16278,O75845 22 |
| Fasciculations 0.4906391086989878 2.278950048315766 0.0226700348236374 1.0 0.5334684040393628 38 Q9NZJ7,Q9NWS8,O95831,Q13510,P07686,P07602,Q9BQT8,P06280,Q5THJ4,P22626,Q8TD16,P35637,O43819,Q9NW15 14 |
| Psychomotor deterioration 0.7498343889134412 2.278730045434275 0.0226831175573045 1.0 0.5334684040393628 9 Q9Y487,P07602,P06865,P50897,Q03164 5 |
| Reduced visual acuity 0.386791206384501 2.277175966507173 0.0227757197147087 1.0 0.5334684040393628 113 Q9NZJ7,Q15058,Q96AA3,P25054,O43676,Q10713,Q15043,O43505,P00846,Q86Y39,O60313,Q9UHX1,O43681,P50897,Q9H061,Q969G3,Q9NPL8,Q8WWY3,Q96S66,P09622,P00558,Q9Y6M9,P03886,P53701,O00429,P17900,P07686,P16278,Q07021,Q9UMX1,Q8IUX1,Q9NZ08,P01889,O60220,P07602,Q96EV8,Q9Y4W6,Q9NR50,P06865,O96000,P21912,Q96CU9 42 |
| Central apnea 0.8036228829098688 2.266586683194099 0.0234154863475448 1.0 0.5365905477115357 7 P07602,Q10713,O76024 3 |
| Abnormality of the vasculature of the eye 0.4344822289175816 2.2658766282474625 0.0234589379674128 1.0 0.5365905477115357 66 Q9NZJ7,Q13510,P00846,Q14739,P10619,Q96S66,P04066,P35250,P21964,P03886,P04439,P17900,P07686,P16278,Q9NZ08,P07602,P06865,P21912,Q9NW15 19 |
| Dysostosis multiplex 0.8032280209137226 2.264799876559994 0.0235249630189775 1.0 0.5365905477115357 7 P15586,P54802,P16278,P10619 4 |
| Hypoketotic hypoglycemia 0.7734412141184028 2.260877740852776 0.0237668288509329 1.0 0.5365905477115357 8 P50416,P31751,O43772,P23786 4 |
| Wormian bones 0.6138164209113107 2.2548983744452733 0.0241397083845067 1.0 0.5365905477115357 16 Q9Y487,O95831,O75718,P02545,O75844 5 |
| Hallucinations 0.4833297199145974 2.2528283350535316 0.0242699748752173 1.0 0.5365905477115357 39 Q9NZJ7,Q9BQE5,P36551,O76024,P07602,Q6DKK2,P04062,P35637,Q9UJS0,P21964,P50897,O75503 12 |
| Impaired vibration sensation in the lower limbs 0.6520469287318963 2.2498458846850085 0.0244587301393244 1.0 0.5365905477115357 14 O00400,Q12768,O75298,P00846,O43819,Q6PI48,Q8WVX9 7 |
| Abnormality of bone mineral density 0.3902678241847145 2.2472205761700947 0.0246259338118972 1.0 0.5365905477115357 123 Q9NZJ7,O95831,Q13510,O75718,O43175,Q15043,Q14739,Q5H8A4,Q9HC07,O75431,Q9Y487,Q9H490,Q9NWM8,Q14108,P61978,O95202,P04062,P35250,P35670,Q9HC21,Q32P28,P54802,P16278,P06280,Q15392,Q13043,P16930,P02545,P07602,O75844,O75845,Q96HY6 32 |
| Abnormal form of the vertebral bodies 0.411827740760083 2.2428188731108833 0.0249084969238606 1.0 0.5365905477115357 78 O95831,P25054,Q10713,Q9Y619,P00813,P48735,Q14739,Q9UHX1,Q5H8A4,P16435,O75874,P82673,P51812,Q9UM00,P15586,O95202,P04066,P35250,Q6NUK1,Q8TAA9,Q12768,Q32P28,P51798,P54802,P08236,Q9H9E3,P16278,Q9UMX1,Q5JRA6,Q9Y4P3,O75845,Q04656,Q96HY6 33 |
| Abnormal corpus striatum morphology 0.6502293954125984 2.2392551946342856 0.0251393163852418 1.0 0.5365905477115357 14 P00846,O43819,O95831 3 |
| Abnormal middle phalanx morphology of the hand 0.7688154741013206 2.239049709671832 0.0251526819239782 1.0 0.5365905477115357 8 P02545,Q9UHX1,Q15233,Q03164 4 |
| Abnormality of subcutaneous fat tissue 0.6703596954721003 2.2332645011865964 0.0255315070174761 1.0 0.5421269527449151 12 Q9Y487,O43175,P02545,O75844 4 |
| Dysmetria 0.4412347281471452 2.2214291282092677 0.0263219099729452 1.0 0.5462069120771956 55 Q10713,Q9Y3E5,O60313,Q96D71,Q9BUK6,O75027,O14773,Q9NPL8,Q69YN2,Q6P4A7,Q9UBB4,Q8N0X7,P35250,Q8N2K0,Q6DKK2,Q12768,O15020,Q8IV08,P20700,Q15056,O75503,O43292,Q5JRX3,Q96BR5,Q9Y4W6,Q06787,Q9Y4P3,Q5T8D3,Q9NW15 29 |
| Pain 0.4090886511325316 2.2166779554456997 0.0266451062448798 1.0 0.5462069120771956 165 Q9NZJ7,Q13510,O75533,Q02978,P25054,P11413,Q15043,P22626,P00846,Q14739,P48735,O60313,Q70HW3,P23786,O75874,Q9BUK6,Q03252,Q14108,Q8NFH4,Q92804,P00558,Q14566,P50995,O15460,Q15165,P04062,Q15800,P21964,P35250,P42892,P43243,P35670,O00429,P50402,Q8TAA9,Q8N1F7,Q01082,P07686,O95140,Q13423,P06280,P09651,P50570,O15269,Q9UMX1,P35637,Q8IUX1,Q13043,P20700,Q9NZ08,P01889,P21912,P36551,P02545,P07602,O75844,Q9H845,Q01844,Q9Y4P3,Q6UN15,Q04656,Q96HY6,Q8WVX9 63 |
| Motor neuron atrophy 0.5578177330436891 2.216399531654832 0.0266641517484313 1.0 0.5462069120771956 21 Q13510,Q92804,Q99720,P09651,P22626,P50995,Q15165,P35637,P43243 9 |
| Abnormal saccadic eye movements 0.5457136271065491 2.215004863874433 0.026759730675274 1.0 0.5462069120771956 23 O14773,Q10713,Q96RL7,O95140,Q9Y4W6,Q5THJ4,P04062,Q8IV08,O43819,Q9NW15 10 |
| Vascular skin abnormality 0.3787694244120383 2.2076981371418003 0.0272653227888164 1.0 0.5462069120771956 107 P48651,P00846,Q14739,Q08J23,Q9Y487,P51812,Q9NWM8,Q14108,P10619,P04062,P04066,P51648,Q6NUK1,P21964,P35670,Q8NCH0,P03886,P53701,P49257,Q16625,P16278,P06280,Q13043,Q8IZA0,P01889,P22830,P02545,Q96EV8,P00403,O75844,P21912,Q6UN15 32 |
| Abnormality of the ribs 0.4347994497061295 2.2024746105508344 0.0276318006543407 1.0 0.5462069120771956 61 O95831,O75718,Q8TAA9,P02545,P00813,Q9Y619,P54802,P16278,P15586,O95202,Q14739,O75844,Q9UHX1,Q5H8A4,P16435,O75431,Q03164 17 |
| Falls 0.7335007579168942 2.1983636737299053 0.0279232002104778 1.0 0.5462069120771956 9 Q9BQT8,Q96RL7,P21912,Q5T8D3,Q8WVX9 5 |
| Abnormal nephron morphology 0.4350650783593966 2.194763325166309 0.0281805795568759 1.0 0.5462069120771956 60 Q03252,Q14108,Q8NFH4,P35250,Q8N1F7,P02545,P00813,P00403,O95470,P00846,P23786,O75431,O43819,P16930,Q9NZ08,P03886,P21912 17 |
| Hyperintensity of cerebral white matter on mri 0.5613276985354496 2.1873062472917977 0.0287201749824073 1.0 0.5462069120771956 20 Q9NZJ7,P17900,Q96AA3,Q15043,P07602,P21912,Q9BUK6,P20700,O75503 9 |
| Rhizomelia 0.73098982355261 2.1859415311987775 0.0288198832521515 1.0 0.5462069120771956 9 Q14739,O00116,Q15392,Q03164 4 |
| Abnormality of skull ossification 0.6612715748169126 2.1827186294952003 0.0290565371465372 1.0 0.5462069120771956 12 Q32P28,O75718,P02545,P54802,O75844,Q14739,Q9HC21 7 |
| Focal segmental glomerulosclerosis 0.5529165731907363 2.1813633169487514 0.029156554619377 1.0 0.5462069120771956 21 Q14108,P00403,O95470,O75431,P03886 5 |
| Motor seizure 0.3687548689798038 2.1799203927310593 0.0292633630181666 1.0 0.5462069120771956 93 Q9NZJ7,Q13510,O43175,Q9Y619,Q9Y320,O00330,Q5XKP0,P00846,Q08J23,P13073,Q9UBB4,P04062,P03886,O00429,P07686,P16278,O75503,Q9H936,Q01105,Q96N66,O43292,P07602,Q9Y4W6,P21912,Q9UBX3,Q8WVX9 26 |
| Postural tremor 0.5880702544916365 2.1763170522725206 0.0295315613330251 1.0 0.5462069120771956 17 P00846,Q14108,P03886,P35637 4 |
| Action tremor 0.4380954732593214 2.1759771821305014 0.029556966793669 1.0 0.5462069120771956 53 Q9NZJ7,P04350,Q96RL7,P00846,O43681,O75027,O14773,Q14108,Q9UBB4,P03886,Q9BUB7,Q01082,Q99720,O95140,Q15233,P20700,Q5JRX3,P07602,Q9Y4W6,P35637,Q5T8D3,Q9NW15 22 |
| Respiratory failure 0.4279305578620039 2.17419645468138 0.0296903845253229 1.0 0.5462069120771956 65 Q9NZJ7,Q13510,Q9Y619,Q5XKP0,Q70HW3,P23786,O43464,Q92804,Q5SRE5,P50995,Q9BT22,Q15165,Q9BUB7,P53701,P09651,P10253,O43819,P07602,Q8TD16,P33991,P35637 21 |
| Dilated cardiomyopathy 0.4788716685891441 2.1715156638244677 0.0298922144045239 1.0 0.5464535866092347 38 P09493,Q16836,P02545,P42166,Q96RL7,P16278,P00403,P00846,P35914,P42167,P23786,O43819,P03886,P53701 14 |
| Ventricular preexcitation 0.7822202935507372 2.169197963635548 0.0300676576851763 1.0 0.5464535866092347 7 P00846,P03886 2 |
| Abnormal larynx physiology 0.6537427508927933 2.168710382127635 0.0301046786753655 1.0 0.5464535866092347 13 Q13510,Q92804,P09651,P50995,Q15165,P35637 6 |
| Generalized onset seizure 0.3737844395402923 2.1667824403458384 0.0302514469892027 1.0 0.5464535866092347 91 Q9NZJ7,Q13510,O43175,Q9Y619,P00367,Q9Y320,O00330,P00846,Q08J23,Q14108,P61978,P05023,Q9UBB4,P04062,P03886,P16278,O75503,Q9H936,Q01105,Q96N66,O43292,P07602,Q9Y4W6,P21912,Q9NW15,Q8WVX9 26 |
| Abnormal basal ganglia mri signal intensity 0.5175464326885459 2.1645085289068895 0.0304253427403469 1.0 0.5464535866092347 28 Q9P0J0,P16278,P00846,Q96CU9,P03886 5 |
| Abnormality of glycolipid metabolism 0.7790543982128748 2.154698932330101 0.0311854014113677 1.0 0.5557116235813918 7 Q9NZJ7,P17900,P07686,P07602,P06865 5 |
| Encephalopathy 0.3692000607596809 2.150786385312711 0.0314930641996267 1.0 0.5590018895433743 97 Q9NZJ7,P50416,Q7KZN9,O43676,Q9Y619,Q86Y39,P23786,Q15067,Q9NPL8,Q16836,O43772,P09622,O75746,P04062,Q9UJS0,Q9Y6M9,P03886,Q9BUB7,Q8IUX1,Q13043,Q9H936,P07602,P00403,O75208,O96000,Q5KU26,Q96CU9 27 |
| Metaphyseal dysplasia 0.7496742935105535 2.1481288288948863 0.0317035226082713 1.0 0.5596933357340899 8 O95831 1 |
| Urinary urgency 0.7494771585465052 2.1471874326208615 0.0317783628123669 1.0 0.5596933357340899 8 O75298,Q9UBB4,P04062,P20700,Q8WVX9 5 |
| Dysdiadochokinesis 0.6483275239185646 2.1378510139470275 0.032528837103356 1.0 0.5635756555121672 13 Q9UBB4,Q9BUK6,P20700,Q6DKK2,O75027,O75503 6 |
| Hypothermia 0.6628475039725046 2.135383745672494 0.0327296772886254 1.0 0.5635756555121672 11 O43772,Q5XKP0,P00846,P35914,P20700,P03886 6 |
| Abnormal light and dark adapted electroretinogram 0.8388933521627105 2.1341366989022723 0.032831592552907 1.0 0.5635756555121672 6 P00846,P50897 2 |
| Abnormal full field electroretinogram 0.8388933521627105 2.1341366989022723 0.032831592552907 1.0 0.5635756555121672 6 P00846,P50897 2 |
| Hypoglycemic seizures 0.7740461441310497 2.131713386539629 0.0330304156609417 1.0 0.5635756555121672 7 P31751,Q13423,P53985,P00367 4 |
| Focal t2 hyperintense basal ganglia lesion 0.5448560680878283 2.1234455945712476 0.0337165299437003 1.0 0.5635756555121672 21 P00846,Q96CU9,P03886,Q9P0J0 4 |
| Titubation 0.6861791501293854 2.1206261963949613 0.0339532718074899 1.0 0.5635756555121672 10 Q5JRX3,Q99720,Q96RL7,P35637,P20700,Q5T8D3 6 |
| Peripheral axonal degeneration 0.4149654611126311 2.119746786504807 0.0340274050822708 1.0 0.5635756555121672 71 Q9NZJ7,O95831,Q96RL7,O00330,P22626,O60313,P00846,Q15067,Q9BQT8,Q6DKK2,P03886,Q9HC21,O76024,O95140,P09651,P50570,O15269,Q8IV08,Q6PI48,Q9H0B6,P02545,P07602,Q96BR5,P00403,Q9Y4W6,Q5THJ4 26 |
| Central scotoma 0.6859267741334777 2.119300731755382 0.0340650598618783 1.0 0.5635756555121672 10 O00429,O60220,P00846,O60313,P03886,Q9H061 6 |
| Stroke like episode 0.8350409142069122 2.117437764976267 0.034222711937826 1.0 0.5635756555121672 6 P00403,P03886,O76024 3 |
| Vomiting 0.3699480013526266 2.109969300858209 0.0348610002264937 1.0 0.5635756555121672 91 Q9NZJ7,P11117,O43676,O43175,Q9Y619,P00846,Q86Y39,P23786,Q2TAA5,Q9NPL8,P61978,Q16836,Q9Y584,Q9UJS0,Q9Y6M9,P35610,P03886,Q13423,Q8IUX1,P36551,P07602,P00403,O96000,Q96CU9 24 |
| Retinopathy 0.5270374165149031 2.106176459653761 0.0351890271709782 1.0 0.5635756555121672 24 P07437,P11802,O00330,P00846,O95202,P18074,Q5H8A4,Q5JRA6,P51648,O43819,Q9NZ08,P01889 12 |
| Airway obstruction 0.6471957790534814 2.1038432091400825 0.035392126236762 1.0 0.5635756555121672 12 P09601,P02545,O75844,P16435,P21964,Q96HY6 6 |
| Abnormal femoral neck morphology 0.4863530928045684 2.103319302896911 0.0354378672060331 1.0 0.5635756555121672 34 Q9Y487,O95831,O75718,P02545,Q9Y619,P16278,O75844,Q96A33,P04066,O75431 10 |
| Cardiovascular calcification 0.7395558014229165 2.0996775609018465 0.0357572147923188 1.0 0.5635756555121672 8 P02545,O75431,O75844 3 |
| Spastic paraplegia 0.4320807902546127 2.097335367791477 0.0359638981049263 1.0 0.5635756555121672 47 O00429,O00400,O95831,Q9P0J0,Q7KZN9,Q12768,O75298,Q9Y619,O00330,P00846,O60313,P04062,Q9H2M9,Q96CU9 14 |
| Left ventricular systolic dysfunction 0.829922851711343 2.095206842457857 0.0361526092857249 1.0 0.5635756555121672 6 P02545 1 |
| Telangiectasia 0.4965170420945159 2.0875218205784196 0.0368409907024198 1.0 0.5635756555121672 31 P10619,P02545,P06280,P00846,Q14739,P21912,Q8IZA0,P03886 8 |
| Abnormal heart valve morphology 0.4090690143742092 2.0871351040600805 0.0368759236530296 1.0 0.5635756555121672 73 Q9UHX1,Q5H8A4,O75431,P51812,P61978,Q9NX14,O95202,P37268,P04062,P35250,Q6NUK1,P21964,Q8NCH0,Q9BUB7,P53701,Q12768,P51798,Q01082,P08236,P16278,P06280,Q15233,Q15056,Q96PU5,P01889,Q96T58,P02545,P55795,O75844,Q06787,Q9Y4P3 31 |
| Tetraplegia 0.6394340154142305 2.0869341431873765 0.0368940880254973 1.0 0.5635756555121672 13 Q13423,O95831 2 |
| Peripheral axonal neuropathy 0.4275630407713846 2.08399708761923 0.0371604321797969 1.0 0.5635756555121672 57 Q9NZJ7,O95831,Q96RL7,O00330,P22626,O60313,P00846,Q15067,Q9HC21,P03886,O76024,O95140,P09651,P50570,O15269,Q8IV08,Q6PI48,Q9H0B6,P07602,Q96BR5,P00403,Q9Y4W6,Q5THJ4 23 |
| Contractures of the joints of the upper limbs 0.4265501930341814 2.080317461568233 0.037496424223546 1.0 0.5635756555121672 58 P50402,P02545,O43175,Q99720,Q9Y619,Q15392,O75844,P37268,Q7LGA3,P35637,P23786,P42892,P16435 13 |
| Abnormal ldl cholesterol concentration 0.63755176294907 2.076120341299269 0.0378828222911067 1.0 0.5635756555121672 13 P50402,P02545,Q8N511,P37268,Q15800 5 |
| Lacticaciduria 0.9423445280930584 2.068559524273944 0.0385874394594623 1.0 0.5635756555121672 5 P00846,Q9BQT8,P03886 3 |
| Xerostomia 0.6204074910916144 2.063626210868134 0.0390531704645076 1.0 0.5635756555121672 14 Q92804,P09651,Q14739,P50995,Q15165,P35637 6 |
| Tetraplegia tetraparesis 0.4283223265809009 2.0579623902473347 0.0395937438371234 1.0 0.5635756555121672 46 P17900,O95831,P07602,Q13423,P00846,P51572,P35637,P21912,P20700,Q9UBX3 10 |
| Avascular necrosis 0.5427739309523908 2.056135412874953 0.0397694656570895 1.0 0.5635756555121672 20 Q14108,P02545,Q9Y619,O75844,Q9NZ08 5 |
| Redundant neck skin 0.757531115194735 2.0554932511377375 0.0398313868576529 1.0 0.5635756555121672 7 Q9Y487 1 |
| Abnormal rib cage morphology 0.4126242848282377 2.0545050595032897 0.0399268341951191 1.0 0.5635756555121672 69 O95831,O75718,Q8TAA9,P02545,P00813,Q9Y619,P54802,P16278,P15586,O95202,Q14739,O75844,Q9UHX1,Q5H8A4,P04066,P16435,O75431,Q03164 18 |
| Abnormality of the tongue 0.3930366436125437 2.051721197233204 0.0401967654931667 1.0 0.5635756555121672 80 O95831,Q13510,P04350,Q10713,P48651,Q96RL7,O75381,O75431,P98175,Q03252,P61978,O43924,Q9BQT8,O15460,P04066,P35250,Q6NUK1,P40855,Q01082,P07686,P16278,Q7LGA3,Q9UMX1,Q9H2M9,P10253,P20700,P01889,P21912,Q9NWS8,P02545,O75844,Q96A33,Q9Y4P3 33 |
| Osteoarthritis 0.6728776516010082 2.0504926547476123 0.0403163798425914 1.0 0.5635756555121672 10 Q14108,P02545,O75844,P04062,Q96HY6 5 |
| Muscle fiber atrophy 0.5346246127599565 2.049397747406617 0.0404232373416315 1.0 0.5635756555121672 21 P50402,P02545,Q99720,P22626,P35637,P23786 6 |
| Oromandibular dystonia 0.8193554352366083 2.049140848024155 0.0404483441944412 1.0 0.5635756555121672 6 O60220,Q99720,P35637,Q15043 4 |
| Ventricular arrhythmia 0.4832170796322629 2.0480773659074467 0.040552419318014 1.0 0.5635756555121672 33 P09493,P50402,P36551,O43772,P02545,P00403,P00846,P23786,P10253,P42892,P03886,P21912 12 |
| Abnormality of the nasal tip 0.373895833798505 2.048034584401078 0.0405566107729926 1.0 0.5635756555121672 88 Q9Y487,O75431,P38159,P61978,O95831,P02545,O43924,P16278,O75844,Q9UHX1,Q7LGA3,P23786,O75845,P21964,P10586,P42892,P16435,Q03164 18 |
| Babinski sign 0.3920261059113614 2.038229885809934 0.0415269480264599 1.0 0.5694465352104529 80 Q9NZJ7,O95831,Q15043,P00846,O60313,O75027,Q15067,O14773,P51812,Q9UBB4,Q6DKK2,Q12768,O75298,Q99720,O95140,P20700,P21912,O00400,O60220,P07602,Q5THJ4,Q9Y4W6,P35637,Q8WVX9 24 |
| Shuffling gait 0.6704364449715898 2.0375604004894963 0.0415939156745024 1.0 0.5694465352104529 10 P02545,O60220,O75844 3 |
| Abnormality of lipoprotein cholesterol concentration 0.6152578577956468 2.032944574733858 0.0420581229431995 1.0 0.5694465352104529 14 P50402,P02545,Q8N511,P37268,Q15800 5 |
| Ankle clonus 0.5973737478945578 2.0320961454865434 0.0421439235372151 1.0 0.5694465352104529 15 Q9NZJ7,O75298,O60220,P07602,Q9NW15 5 |
| Emotional lability 0.4252353328199216 2.028941672745293 0.0424642315473728 1.0 0.5694465352104529 51 Q9NZJ7,Q92804,Q7KZN9,Q9P0J0,P00558,Q01082,P07602,Q96RL7,P09651,Q9NR50,P50995,Q15165,P35637,Q9UMX1,O43681,P43243,Q96CU9,Q969G3 18 |
| Abnormal cellular phenotype 0.4013201588152199 2.025225313907368 0.0428442334854799 1.0 0.5694465352104529 176 Q9NZJ7,Q13510,Q7KZN9,O43676,P00813,O00330,P00846,Q86Y39,Q14739,Q70HW3,P23786,O14773,Q9NPL8,Q14108,P09601,Q9Y584,O43772,Q9Y2R0,Q16836,P09622,P15586,P13073,P04062,Q9UJS0,P21964,Q9Y6M9,P03886,Q9BUB7,Q9P0J0,Q8IUX1,Q13043,O75503,P21912,P02545,O60220,P07602,P00403,Q15904,O75844,Q9Y4W6,P33991,P35914,O96000,P35637,Q9UBX3,Q96CU9,Q4J6C6 47 |
| Hypopigmented skin patches 0.5370685561245298 2.0154217078971244 0.043860481798801 1.0 0.5694465352104529 20 P07602,P21912,Q8IZA0,P21964,P53634,P53701 6 |
| Abnormal thoracic spine morphology 0.5182884671424767 2.0103166561821504 0.0443976851215415 1.0 0.5694465352104529 23 O95831,P02545,O75844,Q9UHX1,P51648,O75845 6 |
| Osteopenia 0.4149116315104094 2.0077931353344347 0.0446652786202363 1.0 0.5694465352104529 64 Q9NZJ7,Q9Y487,Q9H490,Q9NWM8,P61978,Q14108,O75718,P35250,Q32P28,O43175,P02545,P07602,O75844,P04062,Q13043,O75431 16 |
| Abnormal sternum morphology 0.3631256254629697 2.005310059175397 0.044929910102663 1.0 0.5694465352104529 103 O95831,Q13510,O75718,Q9Y619,O00330,Q14739,Q9UHX1,O75431,Q9BUK6,Q08J23,Q03164,Q9Y487,Q9H490,P51812,P61978,O95202,P04062,P35250,Q8NCH0,P50402,P08236,P16278,Q7LGA3,Q9UMX1,Q9H2M9,P21912,P07437,P02545,P55795,P78318,Q9NVI7,Q96A33,Q9Y4P3 33 |
| Abnormality of fontanelles 0.4429248484813415 1.998357711793852 0.0456778928298704 1.0 0.5694465352104529 42 Q9Y487,P51812,O75718,Q32P28,Q01082,P02545,P48651,Q9Y619,O75381,Q8NCH0,O75844,Q9BT22,Q08J23,P16435,Q6NUK1,P40855,Q04656 17 |
| Generalized joint laxity 0.6367381469374973 1.9910108247737952 0.0464796971990413 1.0 0.5694465352104529 11 Q9Y487,Q9UHX1,Q8NCH0 3 |
| Insulin resistance 0.5469296148028883 1.9905396366306085 0.0465315222237028 1.0 0.5694465352104529 18 Q03252,O76024,P02545,P31751,O95140,O75844,O00330,O75431,P43304 9 |
| Abnormal pyramidal sign 0.3682439092659555 1.988592693960756 0.04674617847364 1.0 0.5694465352104529 114 Q9NZJ7,O95831,Q15043,Q9Y619,P00846,O60313,O75027,Q15067,O14773,P51812,Q9UBB4,P04066,P51648,Q8NI60,Q6DKK2,O00429,P17900,Q12768,Q9P0J0,O75298,Q99720,O95140,P20700,Q9NZ08,Q6PI48,P21912,O00400,O60220,P07602,Q5THJ4,Q9Y4W6,P51572,P35637,Q8WVX9 34 |
| Nephropathy 0.5398978131892852 1.9870949592941596 0.0469118747425403 1.0 0.5694465352104529 19 Q14108,P36551,O76024,Q10713,P00403,P06280,P03886 7 |
| Social and occupational deterioration 0.9809911744738616 1.984081476692674 0.0472467577282509 1.0 0.5694465352104529 2 Q9BQE5 1 |
| Negativism 0.9809911744738616 1.984081476692674 0.0472467577282509 1.0 0.5694465352104529 2 Q9BQE5 1 |
| Leber optic atrophy 0.9796334012219948 1.9781466398088736 0.0479121663407071 1.0 0.5694465352104529 2 P00846 1 |
| Multiple glomerular cysts 0.9796334012219948 1.9781466398088736 0.0479121663407071 1.0 0.5694465352104529 2 P00846 1 |
| Low plasma citrulline 0.9796334012219948 1.9781466398088736 0.0479121663407071 1.0 0.5694465352104529 2 P00846 1 |
| Retinal arterial tortuosity 0.9796334012219948 1.9781466398088736 0.0479121663407071 1.0 0.5694465352104529 2 P00846 1 |
| Cardiac conduction abnormality 0.4909654304958292 1.9777790983211532 0.0479536324442788 1.0 0.5694465352104529 29 Q9H490,P50402,O43772,P02545,P00403,P00846,P23786,O43819,P03886 9 |
| Supranuclear gaze palsy 0.5580391884992351 1.9773956608612648 0.0479969240725359 1.0 0.5694465352104529 17 P07602,Q99720,O15118,P04062,P35637 5 |
| Abnormal myocardium morphology 0.3921811124583332 1.9747402002223209 0.0482976383847129 1.0 0.5707199096264035 163 P09493,P50416,Q7KZN9,O43676,Q96RL7,O75381,P22626,Q5XKP0,P00846,Q86Y39,P48735,O60313,P23786,Q9H061,Q9NPL8,Q14108,Q16836,O43772,P09622,P15586,Q9BT22,P04062,P35250,Q9Y6M9,P40855,P03886,P53701,Q9BUB7,P50402,Q9P0J0,O76024,P42166,P54802,P08236,Q13423,P16278,P06280,P09651,Q07021,Q15233,Q9UMX1,Q8IUX1,Q9H2M9,O43819,P16930,P10253,Q9NZ08,P01889,P21912,Q9NWS8,P02545,P00403,Q9NVI7,Q9H845,P35914,P42167,O96000,Q9Y4P3,Q96CU9 59 |
| Somatic sensory dysfunction 0.3581588682622567 1.973687047964387 0.0484173388094126 1.0 0.5707199096264035 98 Q9NZJ7,O95831,Q9Y619,Q96RL7,P00846,O00165,Q9BUK6,O14773,P61978,O15460,P43243,Q8NCH0,Q12768,O75298,P07686,P54802,O95140,P06280,P50570,O15269,Q8IV08,O43819,P20700,Q9NZ08,Q6PI48,P01889,O00400,Q9H0B6,P02545,P07602,Q96BR5,Q5THJ4,Q8WVX9 33 |
| Fatigable weakness of swallowing muscles 0.623707334573419 1.970632483502456 0.0487659283036638 1.0 0.5711143768346616 12 Q92804,P09651,P50995,Q15165,P35637 5 |
| Shoulder girdle muscle weakness 0.631402396982806 1.9612178903995572 0.0498536107649376 1.0 0.5823516897580379 11 Q9NZJ7,P46976,P07602,Q8TD16,O14979,P43243 6 |
| Abnormal circulating non proteinogenic amino acid concentration 0.7355927141914087 1.9532454069708476 0.0507905229898946 1.0 0.5872573446974074 7 P00846,Q9Y619,P03886 3 |
| Muscle stiffness 0.5538293978954717 1.9491660264386823 0.0512756007192976 1.0 0.58837456986992 17 P07602,P53985,Q15392,P00846,P23786,Q9NW15 6 |
| Proximal amyotrophy 0.6008675036613051 1.9466575616222672 0.0515758026706663 1.0 0.5888453450640897 14 P02545,P35637,O14979 3 |
| Abnormal pericardium morphology 0.6284797775458787 1.9448578218339423 0.0517920926268633 1.0 0.5893627315042528 11 Q14108,P02545,O15460,P04062,Q9NZ08 5 |
| Symptomatic seizures 0.707372101633364 1.943796465531603 0.0519200001665547 1.0 0.5893627315042528 8 P31751,Q13423,P53985,P00367 4 |
| Stillbirth 0.6280281908592741 1.942327362366024 0.052097482575306 1.0 0.5893627315042528 11 P02545,O43175,O75844,Q14739,P16435 5 |
| Scotoma 0.6143888198515354 1.9419766693920848 0.0521399247501561 1.0 0.5893627315042528 13 O00429,P04439,O60220,P00846,O60313,P03886,Q9H061 7 |
| Abnormal placenta morphology 0.651998272048249 1.939279815312152 0.0524672753329307 1.0 0.5908174724383525 10 P02545,O43175,O75844 3 |
| Ankylosis 0.7942401220693595 1.9387756191513132 0.0525286661234802 1.0 0.5908174724383525 6 P02545,O75844,P16435 3 |
| Arteriosclerosis 0.6131239400888151 1.9345947592799464 0.0530400436438858 1.0 0.5913714437942506 13 Q13510,P02545,P16278,O75844,O15118 5 |
| Ascites 0.4920455870040047 1.9337340705940609 0.0531458325446569 1.0 0.5913714437942506 27 Q14108,Q13510,O15118,Q14739,Q01844,P16930 6 |
| Abnormal electroretinogram 0.4781107368990668 1.931921472747259 0.0533691990165059 1.0 0.5913714437942506 31 O14773,O60220,O43924,P00846,P50897,Q15067 6 |
| Young adult onset 0.6502571989753289 1.9299445526500811 0.0536137083172543 1.0 0.5913714437942506 10 P36551,P02545,P07602,Q14566,O15118 5 |
| Adducted thumb 0.5108376633296908 1.92753444327948 0.0539130598829324 1.0 0.5913714437942506 22 Q04656,Q96AA3,O43175,Q8NBU5,Q9Y4P3,P35250,Q86XL3,P42892,Q8NCH0 9 |
| Bilateral sensorineural hearing impairment 0.5171549291214026 1.921599597201881 0.0546561593291932 1.0 0.5913714437942506 21 P38159,P07602,P00403,P35637,Q15067,P03886 6 |
| Slurred speech 0.6780483455460544 1.919851520050767 0.0548766570472769 1.0 0.5913714437942506 9 Q9Y487,Q96RL7,P16278,Q69YN2,Q8N0X7,Q9NW15,Q6PI48 7 |
| Retinal vascular tortuosity 0.5956215837388521 1.9150024100240064 0.0554921962610264 1.0 0.5913714437942506 14 P00846,P21964 2 |
| Disproportionate short stature 0.5158823499708186 1.912223407970629 0.0558475449357651 1.0 0.5913714437942506 21 O75718,Q32P28,P16278,Q15392,Q14739,Q9UHX1,Q7LGA3,Q03164,O00116 9 |
| Abnormality of the basal ganglia 0.3901559489334202 1.9116897084116051 0.05591600515228 1.0 0.5913714437942506 76 O95831,Q96AA3,Q7KZN9,Q9P0J0,Q96N66,O60220,P16278,P00403,P00846,O60313,P04062,Q96CU9,P23786,O43819,Q08J23,P03886 16 |
| Calcinosis 0.9037958318505344 1.9111930963384385 0.0559797707447373 1.0 0.5913714437942506 5 P02545,O75844 2 |
| Abnormal visual fixation 0.7262028356092585 1.909138928673871 0.0562441720463497 1.0 0.5913714437942506 7 P04062,Q13510,Q5THJ4 3 |
| Corneal opacity 0.4143557395079585 1.908363391545887 0.0563442649784708 1.0 0.5913714437942506 50 Q13510,O43505,O75381,Q5H8A4,Q03001,P10619,O95202,P04062,P04066,P51648,P35250,P35670,Q6NUK1,P40855,P53701,Q16625,P08236,P16278,P06280,P02545,Q9NVI7,O75844,O75845 23 |
| Prominent umbilicus 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Epidermal hyperkeratosis 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Stiff skin 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Patchy alopecia 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Abnormal sweat gland morphology 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Aplasia hypoplasia of the colon 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Abnormal shoulder physiology 0.9630006788866255 1.9052890621296523 0.0567425064908215 1.0 0.5913714437942506 2 P02545 1 |
| Abnormal caudate nucleus morphology 0.6729443972321704 1.893781535459405 0.0582540135070761 1.0 0.5984329769265566 9 P00846,O60220,Q96RL7,O43819 4 |
| Abnormal systemic blood pressure 0.3726588374391067 1.892174248608884 0.0584677682135164 1.0 0.5984329769265566 84 Q9NZJ7,Q10713,P16435,O43772,P04062,P35250,P21964,P42892,P35610,P03886,Q9BUB7,Q8TAA9,P07686,Q13423,P06280,Q13043,P20700,P36551,P02545,P07602,P00403,O75844,P35914,P21912 24 |
| Aplasia hypoplasia involving the pelvis 0.619004506720533 1.891618380667772 0.0585418451027852 1.0 0.5984329769265566 11 O95202,O75431,Q5H8A4,O95831 4 |
| Temperature instability 0.6718226697197204 1.8880423146885872 0.0590202699946222 1.0 0.5984329769265566 9 Q9NZJ7,Q2TAA5,P07602,P20700 4 |
| Heterogeneous 0.4400642809773649 1.8836993759297904 0.0596056509055757 1.0 0.5984329769265566 40 Q9BQE5,P02545,O75844,P00846,P21964,P53634,P03886 7 |
| Hypocholesterolemia 0.6950649194709995 1.8834830089649868 0.059634940333801 1.0 0.5984329769265566 8 Q15800,P07602,P37268 3 |
| Abnormal circulating bilirubin concentration 0.4940812958892987 1.882991789952564 0.0597014805955142 1.0 0.5984329769265566 25 P55263,O75845,P36551,Q14739,P23786,Q9UJS0,P40855 7 |
| Submucous cleft of soft and hard palate 0.4971316023289703 1.876935751208754 0.0605269001627617 1.0 0.5984329769265566 24 P02545,O43175,Q9Y619,Q15392,O75844,Q7LGA3,Q08J23 7 |
| Fatigue 0.3939443547430707 1.876781035829667 0.0605481106788412 1.0 0.5984329769265566 72 Q9NZJ7,P50416,Q14739,O60313,Q70HW3,Q92804,P50995,Q15165,O15460,P04062,P43243,O00429,Q01082,P06280,P09651,Q13423,Q07021,Q13043,P35637,Q9NZ08,P01889,P07602,P35914,P21912,Q6UN15,Q04656,Q4J6C6 27 |
| Glomerulopathy 0.6403308645383592 1.8765426560433205 0.0605808031219665 1.0 0.5984329769265566 10 Q03252,Q14108,P02545,P06280,Q9NZ08 5 |
| Abnormal bone structure 0.3828799765404247 1.875127172017007 0.0607752302373905 1.0 0.5990512932726735 157 Q9NZJ7,Q15058,O95831,Q13510,O75718,O43175,Q15043,Q9Y619,O75381,P22626,P48735,Q14739,Q5H8A4,Q9HC07,O75431,O00116,Q9Y487,Q9H490,Q9NWM8,Q14108,P61978,O95202,P04062,P35250,P35670,P40855,Q9HC21,Q32P28,P54802,P16278,P06280,Q15392,P09651,Q13043,Q86XL3,P53634,P16930,P02545,P07602,O75844,P21912,O75845,Q96HY6 43 |
| Abnormal arterial physiology 0.496724029805227 1.8737741719179557 0.0609615577376783 1.0 0.5994962547774697 24 Q9NWM8,P02545,P06280,O75844,Q14739,O15460,P35250,Q9NZ08,P01889 9 |
| Prominent nasolabial fold 0.77820234732213 1.8676654427273716 0.0618087183293047 1.0 0.6033343676366995 6 Q9Y487 1 |
| Abnormality of the nasolabial region 0.77820234732213 1.8676654427273716 0.0618087183293047 1.0 0.6033343676366995 6 Q9Y487 1 |
| Progressive gait ataxia 0.6146393765394275 1.866989862409748 0.061903003551325 1.0 0.6033343676366995 11 P00846,O14773,P07602,Q9NW15 4 |
| Slow decrease in visual acuity 0.6902916197153883 1.8599876896626164 0.0628872676576655 1.0 0.6054231869415934 8 O00429,O95140,P00846,Q9UMX1,P03886 5 |
| Hypoparathyroidism 0.6002189777883876 1.8589498939925784 0.0630342409460249 1.0 0.6055551603778803 13 P21964,Q08J23,P00403,P03886 4 |
| Glucose intolerance 0.3493039167215337 1.8553030964212756 0.0635529562982926 1.0 0.6055967517349878 96 O43676,P00846,Q86Y39,O60313,O75431,Q03252,Q9NPL8,P31751,P61457,P35250,Q9Y6M9,P03886,Q8TAA9,O76024,Q8IUX1,P02545,P00403,O75844,O96000,Q96CU9 20 |
| Metaphyseal cupping 0.9511201629327868 1.8530823387664912 0.063870557824226 1.0 0.6055967517349878 2 O95831 1 |
| Abnormal metabolic brain imaging by mrs 0.5681152730702076 1.848918816882216 0.0644695361611746 1.0 0.6055967517349878 15 P07602,P00403,P21912,O43819,P35610,P03886 6 |
| Morphological abnormality of the corticospinal tract 0.5507097894090174 1.8486556158149283 0.064507556445797 1.0 0.6055967517349878 16 O00400,Q12768,O75298,P00846,P35637,P35250 6 |
| Abnormal renal cortex morphology 0.4083415022355051 1.8482818177170095 0.0645615846477976 1.0 0.6055967517349878 53 Q03252,Q14108,Q8NFH4,Q8N1F7,P02545,P00813,P00403,O95470,P00846,P21912,O75431,P16930,Q9NZ08,P03886 14 |
| Cns demyelination 0.5678104270363312 1.8469917365938875 0.0647483379238131 1.0 0.6055967517349878 15 Q9NZJ7,P07602,Q5H8A4,P51648,P40855,Q15067 6 |
| Abnormality of the musculature of the thigh 0.7128175845933802 1.8459159842408883 0.0649044053906116 1.0 0.6055967517349878 7 P02545,O14979 2 |
| Abnormal left ventricle morphology 0.4802191237884485 1.837977677732428 0.0660656946661339 1.0 0.6151690913174443 27 P10253,P06280,P00403,O75208,O75880,Q07021,Q15233,P21912,O75431,Q6NUK1,P03886 11 |
| Abnormal glycosylation 0.5056885547531059 1.8367940727063128 0.0662403012805252 1.0 0.6155335971752696 21 Q9Y487,P46977,Q96AA3,Q8TCJ2,Q8N511,Q15904,Q9BT22 7 |
| Chronic diarrhea 0.5119632477516919 1.834182660938501 0.0666268843643003 1.0 0.6169443124934956 20 Q13510,P07686,P00813,Q15904,Q9BT22,Q08J23 6 |
| Microcytic anemia 0.6839961855809771 1.8289131041109543 0.0674126268348815 1.0 0.6216244043830556 8 Q9UBX3,Q9BQT8 2 |
| Aplasia hypoplasia involving the vertebral column 0.5469821944391406 1.8241021303748213 0.0681366335337583 1.0 0.6216244043830556 16 O95831,Q8TAA9,P16278,Q14739,P04066 5 |
| Progressive visual loss 0.497098246425391 1.8238184238344843 0.0681795276001657 1.0 0.6216244043830556 22 P00846,P50897,P03886,O75503 4 |
| Abnormality of the parathyroid gland 0.5099955396871096 1.8198358352701829 0.0687840087067066 1.0 0.6216244043830556 20 P00403,P48735,P21964,Q08J23,P03886 5 |
| Progressive spastic quadriplegia 0.682146000567221 1.8197618285411747 0.0687952830628075 1.0 0.6216244043830556 8 Q9NZJ7,P07602,Q01082,P17900 4 |
| Muscle spasm 0.4052860975783467 1.8173615872110072 0.0691617654355711 1.0 0.6216244043830556 54 O43175,P00846,Q5H8A4,P23786,O43464,Q92804,P09622,P00558,P05023,P50995,Q15165,P04062,P43243,Q12768,O75298,P06280,P09651,P53985,P35637,Q8WVX9 20 |
| Shallow orbits 0.6812967168058066 1.8155583275822536 0.0694381509773676 1.0 0.6216244043830556 8 P02545,O75431,O75844 3 |
| Abnormality of the biliary system 0.3524112683123344 1.814003409859404 0.0696772007991437 1.0 0.6216244043830556 106 P55263,Q9NZJ7,Q13510,P11413,Q10713,O75381,Q14739,Q5H8A4,Q14108,P09601,O95202,P04062,P04066,Q9UJS0,P21964,P40855,P35250,Q16625,O15118,P36551,P02545,P07602,Q15904,Q96A33,O75845 25 |
| Skeletal dysplasia 0.4603398107133441 1.8120497284714865 0.0699785130495476 1.0 0.6216244043830556 32 O95831,P10619,P16278,Q14739,P51648,Q9HC07,P40855,Q96HY6 8 |
| Incoordination 0.3940473340689348 1.8108738886203877 0.0701603753436752 1.0 0.6216244043830556 68 Q9NZJ7,O14773,Q01105,Q13510,Q10713,Q9Y619,P07602,Q5THJ4,O00165,P00846,Q9UBB4,P04062,P21912,O43819,Q6DKK2,Q15067,O75503 17 |
| Asymmetric septal hypertrophy 0.9409368635437858 1.8082341204556769 0.0705700702844907 1.0 0.6216244043830556 2 P54802 1 |
| Pericardial effusion 0.7648571197973785 1.8081285946202772 0.0705864887154992 1.0 0.6216244043830556 6 P02545,Q14108 2 |
| Narrow nasal ridge 0.7043558831699099 1.8057403793688256 0.070958902170306 1.0 0.6216244043830556 7 P02545,O75844 2 |
| 3 methylglutaconic aciduria 0.6269739370448155 1.804209600944228 0.0711984548068533 1.0 0.6216244043830556 10 O43464,Q3ZCQ8,Q5XKP0,P35914,Q9BUB7 5 |
| Abnormal aortic valve morphology 0.4487853642340867 1.7963172677945964 0.0724440731250009 1.0 0.6216244043830556 35 P51812,P61978,Q01082,P02545,P06280,O75844,P37268,Q9UHX1,P04062,P35250,Q6NUK1,Q9BUB7,P01889,P21964 14 |
| Exercise intolerance 0.4585362886324789 1.796266695817742 0.0724521118767127 1.0 0.6216244043830556 32 Q9Y2R0,P00403,Q9H2D1,P23786,P03886 5 |
| Juvenile onset 0.4349040121674787 1.7952765146677965 0.0726096549363273 1.0 0.6216244043830556 39 O14773,P50402,Q13510,P02545,P54802,Q14566,O15118,O75027 8 |
| Nephrotic syndrome 0.4866394488077557 1.7952337843201047 0.0726164598674072 1.0 0.6216244043830556 24 Q03252,Q14108,Q8N1F7,P00813,O95470,P06280,Q9BT22,Q8NCH0 8 |
| Abnormal brainstem morphology 0.3720191683309057 1.794877217575656 0.0726732645053986 1.0 0.6216244043830556 81 O95831,O43676,Q10713,O43505,Q9Y320,O00330,Q86Y39,O60313,Q9BVA1,Q969G3,Q9NPL8,Q9NX14,Q9Y6M9,P03886,O00429,Q9UMX1,Q8IUX1,O43819,P20700,P07437,O96000,Q5KU26,Q96CU9 23 |
| Atrophy degeneration involving the corticospinal tracts 0.5756533094550031 1.7935487655649247 0.0728852204241492 1.0 0.6216244043830556 14 O00400,Q12768,O75298,P00846,P35637,P35250 6 |
| Leukoencephalopathy 0.3514101075297232 1.7925775813443543 0.0730404937777433 1.0 0.6216244043830556 90 Q9NZJ7,O95831,O43676,O00330,Q86Y39,O60313,Q9UHX1,Q9NPL8,O95202,Q9Y6M9,P03886,Q9BUB7,O00429,P17900,P51571,Q8IUX1,P20700,Q6PI48,O75503,Q01105,P07602,Q9NR50,P35914,O96000,Q96CU9 25 |
| Abnormality of alkaline phosphatase level 0.4929547849239422 1.7923297998725432 0.073080152493141 1.0 0.6216244043830556 22 O75845,Q13043,P51798,Q8N511,P09651,P22626,Q14739,Q96A33,Q92643,Q9UJS0 10 |
| Abnormality of the bladder 0.3492744480079625 1.791881176138689 0.0731520018853277 1.0 0.6216244043830556 103 Q9NZJ7,Q15058,P22626,Q9UHX1,O43681,P16435,Q10471,P51812,Q9NWM8,P61978,Q9UBB4,P04062,Q9UJS0,P21964,P35250,Q8NCH0,Q8TAA9,Q12768,O76024,O75298,P07686,Q99720,P09651,P50570,Q9UMX1,Q86XL3,P20700,Q6PI48,P01889,P21912,Q9Y4P3,P07602,Q3ZCQ8,P35637,Q04656,Q8WVX9 36 |
| Eeg with focal spikes 0.8743470315578113 1.7895727978367033 0.0735226147734215 1.0 0.6216244043830556 5 O75503 1 |
| Kyphoscoliosis 0.4031836808845917 1.7881188817277969 0.0737568299103441 1.0 0.6216244043830556 52 Q9Y487,Q9NWM8,P02545,Q9HC07,Q8NCH0 5 |
| Laryngomalacia 0.5879918766560024 1.786729847545962 0.0739811625268407 1.0 0.6216244043830556 13 P02545,P21964,P07602,P16435 4 |
| Increased bone mineral density 0.4853647254446012 1.7852635269930772 0.0742185819456746 1.0 0.6216244043830556 24 Q14108,P51798,P02545,Q15043,P48651,P54802,Q15392,Q14739,P04062,Q9Y4P3,P35250,Q13126,Q15056 13 |
| Prenatal maternal abnormality 0.5734041123221234 1.7797745788169008 0.0751128595271974 1.0 0.6216244043830556 14 P50416,Q8TAA9,O43772,P02545,Q01082,Q14739,P16435 7 |
| Mortality aging 0.3450054049077393 1.7794849253030762 0.0751602941810951 1.0 0.6216244043830556 97 Q9NZJ7,O75718,O43175,O75381,Q14739,P16435,O75431,Q15067,O43464,P51812,Q9NPL8,Q9BT22,P04062,P35250,Q6NUK1,P40855,Q9HC21,Q9BUB7,O00429,Q12768,P07686,P16278,P50570,O43819,Q9H936,Q9NWS8,Q8TCJ2,P02545,P07602,Q9NVI7,O75844,Q15904,P35914,O96000,Q9Y4P3 35 |
| Increased cerebral lipofuscin 0.8708800543662792 1.7751799042502514 0.075868186765585 1.0 0.6216244043830556 5 O14773,P07602,P50897,O75503 4 |
| Mucosal telangiectasiae 0.6976530062686448 1.7738032232242469 0.0760957047960182 1.0 0.6216244043830556 7 Q8IZA0,Q14739,P21912,P10619 4 |
| Fever 0.3724301849121051 1.77369107834577 0.0761142629779114 1.0 0.6216244043830556 80 Q9NZJ7,Q13510,P11413,P00813,P00846,Q14739,Q9HC07,P23786,Q03001,P61978,Q8NFH4,O15460,P35610,P03886,Q8N1F7,Q01082,P06280,Q13043,P10253,Q9NZ08,P07602,P00403,Q9NR50,P51572,P35914,Q6UN15 26 |
| Increased muscle lipid content 0.6494251151131092 1.7727296421732726 0.0762735168197352 1.0 0.6216244043830556 9 Q9BUK6,Q8NI60,P23786 3 |
| Limb pain 0.6484613950062492 1.7677377649662016 0.0771047534366971 1.0 0.6234234868618356 9 P00846,P36551,O95140,Q8WVX9 4 |
| Abnormal visual electrophysiology 0.4014449458469011 1.7666743183192124 0.077282786737612 1.0 0.6237530780385595 48 Q9NZJ7,O14773,Q96S66,O60220,P07602,O43924,P00846,P50897,Q15067,O75503 10 |
| Prominent sternum 0.931093007467748 1.7648017577698756 0.0775970891434112 1.0 0.6244808040116201 2 O95831 1 |
| Tinnitus 0.5842460769583386 1.764500143350556 0.0776478112382406 1.0 0.6244808040116201 13 Q9NR28,O95831,Q02978,Q15043,O95140,Q9UMX1,P21912 7 |
| Abdominal pain 0.3673276153788891 1.7578695298120657 0.0787697114023928 1.0 0.6323843968418253 82 Q02978,P11413,Q70HW3,P23786,Q14108,Q8NFH4,Q14566,O15460,P04062,P35250,P42892,Q8N1F7,Q01082,P07686,Q13423,P06280,P35637,Q13043,Q9NZ08,P01889,P21912,P36551,Q01844,Q9Y4P3,Q6UN15,Q04656 26 |
| Personality changes 0.5247693380115729 1.7520394542911366 0.0797670239326 1.0 0.6371948917877017 17 O60220,P00403,Q96RL7,Q9NR50,P04062,P35670,P20700,P03886 8 |
| Limb joint contracture 0.3559553461683792 1.751403775786686 0.0798763830709403 1.0 0.6371948917877017 87 O43175,Q9Y619,O60313,P23786,P16435,Q08J23,P37268,P42892,Q9HC21,P50402,Q99720,Q15392,Q7LGA3,Q8IZA0,Q86XL3,P21912,P02545,Q8TD16,O75844,P35637 20 |
| Abnormality of the umbilical cord 0.6683162900639846 1.7510934345140627 0.0799298169716087 1.0 0.6371948917877017 8 P02545,O43175,O75844 3 |
| Abnormal delivery 0.4842208387562594 1.7498305247293653 0.0801475618084184 1.0 0.6378117703282895 23 Q9Y487,O75718,Q01082,P02545,Q9Y619,O75844,O60313,P33991 8 |
| Hypolipoproteinemia 0.6675384184323903 1.7472173834735485 0.0805996374645297 1.0 0.6378324483684229 8 P02545,P37268,Q15800 3 |
| Inverted nipples 0.749993292455443 1.7414398547474994 0.0816065073122636 1.0 0.6378324483684229 6 Q15067,P61978,Q96AA3 3 |
| Posterior embryotoxon 0.5340656762075952 1.7385584416417534 0.0821124619140301 1.0 0.6378324483684229 16 Q9NX14,Q96DF8,O75381,Q7LGA3,Q9Y4P3,P35250,P21964,P40855,P53701 9 |
| Tongue fasciculations 0.5828328480287097 1.7341702968476098 0.0828878715647063 1.0 0.6378324483684229 12 Q9BQT8,O95831,Q13510 3 |
| Insulin resistant diabetes mellitus 0.664873815262799 1.73392904859332 0.0829306729737051 1.0 0.6378324483684229 8 P02545,O75431,P31751,O75844 4 |
| Thoracic scoliosis 0.6140149712433222 1.7335215845018692 0.0830030044748149 1.0 0.6378324483684229 10 P02545,O75844 2 |
| Abnormality of the musculature of the upper arm 0.6889045340986085 1.7319728495048885 0.0832783966392136 1.0 0.6378324483684229 7 P02545,O14979 2 |
| Proximal upper limb amyotrophy 0.6889045340986085 1.7319728495048885 0.0832783966392136 1.0 0.6378324483684229 7 P02545,O14979 2 |
| Premature loss of teeth 0.5823887282262498 1.7315695971800575 0.083350223273485 1.0 0.6378324483684229 12 P02545,P53634 2 |
| Dyspnea 0.3406432312128067 1.7297261466499438 0.0836792148950682 1.0 0.6379838128912586 95 Q9NZJ7,O95831,Q13510,Q9Y619,P00846,Q9UHX1,P23786,Q92804,P50995,Q15165,P04062,P43243,P03886,P53701,P06280,P09651,P51571,O43819,P10253,Q8TCJ2,P02545,P07602,O75844,P35637,Q6UN15 25 |
| Basal ganglia gliosis 0.6635434109127628 1.7272880526037524 0.0841159437911058 1.0 0.6402392773647991 8 P00846 1 |
| Variable expressivity 0.3788448239467362 1.7217757550143382 0.0851101481754208 1.0 0.643348136172097 74 Q9NZJ7,Q15058,Q13510,O95470,O00330,Q70HW3,Q9H061,P09622,Q6P4A7,Q8NI60,P43243,P03886,O00429,P17900,O95140,Q9UMX1,Q9NWS8,P02545,P07602,P00403,Q8TD16,Q9Y4W6,Q5THJ4 23 |
| Abnormal cochlea morphology 0.9212491513917151 1.7213000766577085 0.0851963855938944 1.0 0.643348136172097 2 Q9Y619 1 |
| Abnormal bleeding 0.3412164024856177 1.720388530389782 0.0853618404706779 1.0 0.643348136172097 97 P11117,Q96AA3,Q02978,Q14739,Q9UHX1,P23786,Q9Y487,Q9NWM8,Q14108,O15460,P04062,Q9UJS0,P21964,P35670,Q8NCH0,P49257,O76024,Q16625,P50570,Q9UMX1,P16930,Q9NZ08,Q96PU5,P01889,P02545,Q96EV8,O75844,Q9H845,Q4KMQ2,P21912,Q6UN15,Q04656,O75533 33 |
| Undetectable electroretinogram 0.8575870074749858 1.719857493485326 0.0854583487307243 1.0 0.643348136172097 5 O14773,O43924,P50897 3 |
| Abnormal speech prosody 0.6620353135790011 1.7197550242572737 0.0854769811754938 1.0 0.643348136172097 8 P00846,P03886 2 |
| Abnormal large intestine physiology 0.5079450472484163 1.7174859551260135 0.0858904184565387 1.0 0.643348136172097 18 Q9NZJ7,Q8TAA9,O75298,P07602,P06280,P21964,P20700 7 |
| Vitiligo 0.6858605918869136 1.7173801148178172 0.0859097425361243 1.0 0.643348136172097 7 P03886 1 |
| Sensory axonal neuropathy 0.5761990031015505 1.7165808856823992 0.0860557773964383 1.0 0.643348136172097 13 O95831,O95140,P09651,P22626,Q8IV08,Q15067 6 |
| Short umbilical cord 0.9541595925297102 1.716438621517868 0.0860817928680974 1.0 0.643348136172097 3 P02545,O75844 2 |
| Small placenta 0.9541595925297102 1.716438621517868 0.0860817928680974 1.0 0.643348136172097 3 P02545,O75844 2 |
| Anencephaly 0.6102391037870644 1.71283272926781 0.0867433170051723 1.0 0.6467209440963723 10 O43175,Q8TAA9,P21964 3 |
| Abnormal circulating dicarboxylic acid concentration 0.4263504701194802 1.7124284905425282 0.0868177323720922 1.0 0.6467209440963723 39 P55263,O75845,P36551,P48735,Q14739,P37268,P23786,Q9UJS0,P40855 9 |
| Abnormal talus morphology 0.5010004856882886 1.7094424238432877 0.0873690282283328 1.0 0.6497624619796142 19 P02545,O43175,Q5SRE5,O75844,Q9UHX1,P16435 6 |
| Slender long bone 0.5740868205950234 1.7039666485633391 0.0883873181974259 1.0 0.655190822005063 13 Q9Y487,Q9H490,P37268,Q9Y619 4 |
| Ambiguous genitalia male 0.9161575016972154 1.698774979548478 0.0893615896455597 1.0 0.659742230430184 2 Q15392 1 |
| Weakness due to upper motor neuron dysfunction 0.3563168227316248 1.6961361496189953 0.0898600990156091 1.0 0.6607189157393653 127 Q9NZJ7,P50416,O95831,Q13510,Q7KZN9,Q9Y619,O00330,Q5XKP0,P00846,O60313,P04062,Q6DKK2,P03886,O00429,P17900,Q12768,Q9P0J0,O75298,Q13423,Q9UMX1,Q9H2M9,P20700,Q9NZ08,P01889,P21912,O00400,P07602,P00403,Q9Y4W6,P51572,P35914,P35637,Q9UBX3,Q96CU9,Q8WVX9 35 |
| Goiter 0.7393685375980603 1.693536189721492 0.0903534523665967 1.0 0.6622033670222832 6 P48735,P21912,O75874,Q9UNW1 4 |
| Multiple lipomas 0.6799329721465885 1.688907253107513 0.0912372050913321 1.0 0.6667757621513236 7 Q9BUK6,O95140,Q8TAA9 3 |
| Pedal edema 0.6798555488729587 1.6885348742299882 0.091308600321772 1.0 0.6667757621513236 7 Q14108 1 |
| Abnormal lower limb bone morphology 0.3673039501196525 1.6860027186463122 0.0917952757228885 1.0 0.6684579052641118 150 Q9NZJ7,Q15058,O95831,Q13510,O75718,O43175,Q10713,Q9Y619,P00813,O43505,Q14739,Q9UHX1,Q5H8A4,P16435,O75431,Q08J23,O00116,Q03164,Q9Y487,O43924,Q5SRE5,P13073,O95202,P04062,P04066,P21964,Q32P28,P16278,Q15392,Q7LGA3,P02545,P07602,O75844,Q96A33,O75845,Q96HY6 36 |
| Paralysis 0.3939951605191996 1.684747620100936 0.092037274677917 1.0 0.6691478018183278 48 P50402,P36551,P17900,Q92804,P02545,P20700,P09651,P50995,Q15165,P04062,Q15233,P35637,P21912,P10253,P16930,P43243,Q9HC21 17 |
| Reduced consciousness confusion 0.3494505522190083 1.6812260640664487 0.0927190127087749 1.0 0.6696562309844961 116 Q9NZJ7,P50416,O43676,Q9Y619,P00367,Q86Y39,Q5H8A4,P23786,Q9NPL8,Q16836,O43772,P62847,P09622,P31751,P04062,Q9UJS0,Q9Y6M9,P35670,P35610,P03886,Q9HC21,Q13423,Q8IUX1,O43819,Q9NZ08,Q9H936,Q9NWS8,P36551,P07602,P00403,Q9NR50,O96000,Q96CU9 33 |
| Color vision defect 0.5571725129418517 1.679824662333048 0.092991435244546 1.0 0.6696562309844961 14 O00429,O43464,O60220,Q9Y4W6,O60313,Q6P4Q7,Q13432,Q9H061 8 |
| Abnormal umbilicus morphology 0.3935012598487228 1.67841145944063 0.0932668020452771 1.0 0.6699021922810695 51 Q9Y487,Q9NWM8,P02545,O43175,O75844,P21964,Q8NCH0 7 |
| Increased connective tissue 0.6776775831881348 1.678054574320292 0.0933364455587626 1.0 0.6699021922810695 7 P02545,O75431,O95831 3 |
| Dental crowding 0.4843085557568872 1.676770232851064 0.0935874207204516 1.0 0.6699021922810695 21 P51812,Q01105,P02545,O75844,Q96A33,Q15233,O75431 7 |
| Exaggerated startle response 0.6033874727949454 1.6751868352903465 0.0938975796943906 1.0 0.6699021922810695 10 P07686,P06865,P16278,P17900 4 |
| Contractures of the joints of the lower limbs 0.3924709106327803 1.6668611633564974 0.0955420148686392 1.0 0.6699021922810695 51 P50402,P02545,Q99720,P48651,Q8TD16,O60313,P37268,Q7LGA3,P35637,P23786,Q8IZA0,Q86XL3,Q9HC21,Q08J23,P21912 15 |
| Paraplegia 0.3923102588879292 1.6650904775032225 0.0958947062498747 1.0 0.6699021922810695 49 O00429,O00400,O95831,Q9P0J0,Q7KZN9,Q12768,O75298,Q9Y619,O00330,P00846,O60313,P04062,Q9H2M9,Q96CU9 14 |
| Neonatal hypoglycemia 0.6285528080140597 1.6640761264847952 0.0960972172557155 1.0 0.6699021922810695 9 P31751,Q16836,O43772 3 |
| Pseudoarthrosis 0.9563196349792952 1.6615298157852358 0.0966070858681287 1.0 0.6699021922810695 4 P02545 1 |
| Abnormality of cranial sutures 0.3678026613705876 1.6614282104772664 0.0966274759412384 1.0 0.6699021922810695 78 Q9Y487,O75431,P61978,O95831,O75718,P02545,Q9Y619,Q5SRE5,O75844,Q08J23,P16435,O75845,P21964,P40855,Q8NCH0 15 |
| Foam cells 0.7322679158474538 1.6614171669128717 0.0966296923624376 1.0 0.6699021922810695 6 O15118,P16278,Q13510 3 |
| High frequency sensorineural hearing impairment 0.9558423913043496 1.659670141876169 0.0969808291648717 1.0 0.6699021922810695 4 P02545,Q9NWM8,O75844 3 |
| Abnormal neuron morphology 0.4583498245877343 1.6585994881575148 0.0971965250026327 1.0 0.6699021922810695 27 Q13510,Q92804,Q99720,P09651,P22626,Q5THJ4,P50995,Q15165,P35637,P43243 10 |
| Abnormality of the alveolar ridges 0.731569200795651 1.6582521813035145 0.0972665764003806 1.0 0.6699021922810695 6 P53634,O43924 2 |
| Respiratory arrest 0.8426757471408868 1.657554123163881 0.0974074960187965 1.0 0.6699021922810695 5 P23786 1 |
| Neurodegeneration 0.4690986205041804 1.657222355259358 0.0974745284405631 1.0 0.6699021922810695 24 P17900,Q92804,Q01082,P09651,P50995,Q15165,P35637,P43243,Q6DKK2 9 |
| Atrophic scars 0.7311901325915333 1.6565347807704174 0.0976135675919858 1.0 0.6699021922810695 6 Q9NWM8,Q8NCH0 2 |
| Coarse facial features 0.390028896662828 1.6558943718369104 0.0977432115938268 1.0 0.6699021922810695 57 O95831,Q969G3,P51812,P61978,P10619,P15586,P04066,P35250,P07686,Q01082,P08236,P54802,P06280,P16278,Q7LGA3,Q9UMX1,Q15056,Q8TAQ2,P38159,Q96T58,Q96A33,Q06787,Q9Y4P3,Q8WVX9 24 |
| Absent facial hair 0.6486550507249124 1.652689196314177 0.098394134278001 1.0 0.6711933975744662 8 P02545,O75844 2 |
| Anorexia 0.4715659230299479 1.6513823893238464 0.0986605184890117 1.0 0.6711933975744662 23 Q14108,P06280,Q13423,O15460,P04062,Q9NZ08,P35914,Q6UN15,P35610 9 |
| Abnormal circulating pyruvate family amino acid concentration 0.4870399667210291 1.650997320356658 0.098739122060993 1.0 0.6711933975744662 20 Q9P0J0,P22695,O00330,Q5XKP0,P00846,O75880,O75208,Q8IUX1,O96000,Q9UJS0,Q7L0Y3,P03886,Q9BUB7 13 |
| Prominent superficial blood vessels 0.5652363897233188 1.65094903156864 0.098748982708487 1.0 0.6711933975744662 13 Q9Y487,P02545,P48651,O75844,Q13043 5 |
| Abnormalities of placenta or umbilical cord 0.5206227027948623 1.6487852018040008 0.0991916476755236 1.0 0.6711933975744662 16 P02545,O43175,P16278,O75844 4 |
| Episodic respiratory distress 0.9377064894191782 1.6486520346443414 0.0992189419590654 1.0 0.6711933975744662 3 P00846 1 |
| Abnormal circulating aspartate family amino acid concentration 0.647725758224632 1.6480161788316534 0.099349351242715 1.0 0.6711933975744662 8 P55263,P16930 2 |
| Glomerular sclerosis 0.4416953075926254 1.6478184560669604 0.0993899305708938 1.0 0.6711933975744662 32 Q14108,Q8NFH4,P00403,O95470,P21912,O75431,P16930,P03886 8 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4804620583092024 1.6477269983366023 0.0994087052305492 1.0 0.6711933975744662 21 Q9P0J0,P22695,O00330,Q5XKP0,P00846,O75880,O75208,Q8IUX1,O96000,Q9UJS0,Q7L0Y3,P03886,Q9BUB7 13 |
| Urinary incontinence 0.4255395248626614 1.6384402581611608 0.1013298868925725 1.0 0.6715939352081158 37 Q9NZJ7,P51812,Q8TAA9,Q12768,P07686,O75298,Q99720,Q3ZCQ8,P07602,P50570,Q9UBB4,P35637,Q9UMX1,O43681,Q10471,Q8WVX9 16 |
| Head titubation 0.6694545823524429 1.6383990374114938 0.101338479832596 1.0 0.6715939352081158 7 Q99720,Q96RL7,P20700,P35637 4 |
| Abnormal circulating citrulline concentration 0.8372864345777762 1.6349759268421789 0.1020540942149788 1.0 0.6740316920245112 5 P00846,Q9Y619,P03886 3 |
| Bilateral cryptorchidism 0.5954224233847205 1.631257797940734 0.1028359342038158 1.0 0.6776988423437561 10 P78318,O43924,P37268 3 |
| Transposition of the great arteries 0.7255418941363407 1.630918039805447 0.1029076147044876 1.0 0.6776988423437561 6 P02545,O75844 2 |
| Cachexia 0.5174117283844905 1.6272336557801823 0.1036874823009972 1.0 0.6782100786506486 16 P02545,P07602,Q99720,Q01844,P04062,P35637 6 |
| Hypotension 0.4611367269009737 1.620752041419938 0.105070827656605 1.0 0.6816866940381284 25 Q9NZJ7,Q04656,O43772,P07686,P07602,Q13423,P04062,P35914,P20700,P35610 10 |
| Leukodystrophy 0.3868172815301073 1.6185819106031916 0.1055372498126241 1.0 0.6816866940381284 57 Q9NPL8,O43819,Q9P0J0,Q7KZN9,O43676,P07602,Q86Y39,P03886,Q8IUX1,O96000,Q9Y6M9,P20700,Q96CU9,Q15067,P21912 15 |
| Progressive spasticity 0.5320543341594416 1.6184187246025383 0.1055723893763951 1.0 0.6816866940381284 15 Q9NZJ7,P51812,P17900,Q01082,P07602,O60313,Q6PI48 7 |
| Fatigable weakness of respiratory muscles 0.5596798186070615 1.6175322014394355 0.1057634505494895 1.0 0.6816866940381284 13 Q92804,P09651,P50995,Q15165,P35637 5 |
| Aortic valve stenosis 0.6413626604167433 1.6159674133168995 0.1061013588475057 1.0 0.6819300913763309 8 P02545,P16278,O75844 3 |
| Retrocollis 0.9293753293742356 1.614265619045865 0.1064698241645953 1.0 0.6823679562819767 3 Q99720 1 |
| Mitochondrial respiratory chain defects 0.8314969473738849 1.6106876371610954 0.1072478216280861 1.0 0.6835256671938308 5 P00846,P03886 2 |
| Scanning speech 0.8961303462321755 1.6100467328207653 0.1073876544598195 1.0 0.6835256671938308 2 O14773 1 |
| Aplasia hypoplasia of the nipples 0.5144823496728411 1.607536658574456 0.1079366944694331 1.0 0.6835256671938308 16 Q12768,O95202,Q96A33,Q5H8A4,Q6NUK1,P10586 6 |
| Impotence 0.662488544675629 1.6047004284537123 0.108559747611844 1.0 0.6835256671938308 7 P07686,P20700,Q9UMX1,Q969G3 4 |
| Erectile dysfunction 0.662488544675629 1.6047004284537123 0.108559747611844 1.0 0.6835256671938308 7 P07686,P20700,Q9UMX1,Q969G3 4 |
| Impairment of activities of daily living 0.3866070976346866 1.6029849820998412 0.1089379697608943 1.0 0.6835256671938308 48 Q9NZJ7,O43681,Q10471,P51812,Q9UBB4,P21964,Q8TAA9,Q12768,P07686,O75298,Q99720,P50570,O15269,Q9UMX1,P20700,Q3ZCQ8,P07602,P35637,Q8WVX9 19 |
| Abnormal circulating tyrosine concentration 0.8944331296673432 1.602519772111417 0.1090407188473099 1.0 0.6835256671938308 2 P16930 1 |
| Elevated circulating long chain fatty acid concentration 0.893754243041408 1.5995087274234638 0.1097076109674102 1.0 0.683614717973172 2 P23786 1 |
| Cerebral white matter atrophy 0.4737543259058584 1.5969026265440769 0.110287414240451 1.0 0.6855622576041173 21 O43175,Q8WVX9,O60313,P51572,Q2TAA5,P20700,O75503 7 |
| Gait ataxia 0.3804575080213912 1.5946546651786542 0.1107894810785004 1.0 0.6857995943234915 64 Q9NZJ7,Q03252,O14773,Q14108,O43292,Q10713,P07602,Q5THJ4,P00846,O15118,Q9UBB4,Q5H8A4,Q8IV08,Q9NW15,P20700,P03886 16 |
| Paraplegia paraparesis 0.3729663876952249 1.5922528563795513 0.1113279011040464 1.0 0.6873287807293302 71 O95831,Q13510,Q7KZN9,Q9Y619,O00330,Q5XKP0,O60313,P00846,P04062,Q6DKK2,O00429,Q9P0J0,Q12768,O75298,Q9H2M9,P21912,O00400,Q9Y4W6,P35637,Q96CU9,Q8WVX9 21 |
| Joint stiffness 0.3853795222989806 1.587737480903046 0.1123457138649 1.0 0.6926715384017714 52 P48735,P16435,O75874,O75431,P15586,O15460,P51648,P35250,P50402,Q8TAA9,O76024,P08236,P54802,O95140,P16278,Q9H2M9,Q8NBU5,Q15056,P01889,P02545,O75844,Q9Y4P3 22 |
| Elbow flexion contracture 0.4719703308634041 1.5833481709395665 0.1133421291725811 1.0 0.6972765941248211 21 P50402,P02545,P37268,P23786,P16435 5 |
| Limb girdle muscular dystrophy 0.6343394269029518 1.5804916307381554 0.1139943220376953 1.0 0.6987209628595505 8 P02545,P50402,O14979 3 |
| Peripheral demyelination 0.5104514346796003 1.5803785560260235 0.11402019943445 1.0 0.6987209628595505 16 Q9NZJ7,Q01082,P07602,P00846,P50570,P20700,P03886 7 |
| Arthritis 0.4127487844240455 1.5795246822193636 0.1142157596908701 1.0 0.6987209628595505 39 Q14108,Q13510,P02545,Q96RL7,P06280,O75844,Q14739,P10321,O15460,P04062,P35670,Q9NZ08,Q96HY6,P21964 14 |
| Abnormality of the phalanges of the toes 0.5555090601582617 1.572980883652984 0.1157232446854124 1.0 0.701644822579003 12 P02545,O75431,Q7LGA3,O75844 4 |
| Abnormal intraocular pressure 0.8224589228426749 1.5727049209102684 0.1157871598800484 1.0 0.701644822579003 5 P04439,Q8NCH0,Q15043 3 |
| Ureteral duplication 0.7125371416446995 1.5717514361680995 0.1160082082184517 1.0 0.701644822579003 6 P02545,O75844,P23786 3 |
| Cerebral visual impairment 0.3823666239778329 1.571602218293875 0.1160428316998536 1.0 0.701644822579003 58 Q9H490,Q01105,Q96N66,O43175,O60220,P00403,P37268,Q96CU9,P20700,Q08J23,P03886 11 |
| Nausea and vomiting 0.3530012857262695 1.571349831673062 0.1161014122260624 1.0 0.701644822579003 136 Q9NZJ7,P11117,Q02978,O43676,O43175,Q9Y619,P00846,Q86Y39,P23786,Q2TAA5,O43464,Q9NPL8,P61978,Q16836,Q9Y584,Q92804,P22695,P09622,P50995,Q15165,Q9UJS0,Q9Y6M9,P35250,P42892,P43243,P03886,P35610,Q01082,Q13423,P06280,P09651,P51571,Q9UMX1,P35637,Q8IUX1,Q8IZA0,Q9NZ08,P01889,P21912,P36551,P07602,P00403,Q01844,Q96CU9,P35914,O96000,Q9Y4P3,Q04656 48 |
| Degeneration of the lateral corticospinal tracts 0.654258947368443 1.564769783891103 0.1176368990896428 1.0 0.701644822579003 7 O00400,O75298,P35637 3 |
| Hemianopia 0.6541060356921845 1.564026651642478 0.1178113096060973 1.0 0.701644822579003 7 Q9BVA1,P00403,P03886,Q9UMX1 4 |
| Raynaud phenomenon 0.8203416124295512 1.5637957371686326 0.1178655457168931 1.0 0.701644822579003 5 P02545,O75844 2 |
| Abnormal circulating fatty acid concentration 0.4973826177636496 1.562820627804979 0.1180947909002332 1.0 0.701644822579003 17 Q16836,O43772,P09622,O75381,O75880,P35914,P23786,O75431,P40855 9 |
| Axonal degeneration 0.7101762167887986 1.5609835147731967 0.1185276405435387 1.0 0.701644822579003 6 Q9BQT8 1 |
| Decreased muscle mass 0.5073261633164675 1.5592795629260705 0.1189302266728535 1.0 0.701644822579003 16 Q9Y487,O95202,Q8NCH0,P04066 4 |
| Stuttering 0.9159975088166132 1.5589783761584244 0.1190014982523752 1.0 0.701644822579003 3 P03886 1 |
| Moderate global developmental delay 0.582139791694405 1.5576193608793747 0.1193235063626469 1.0 0.701644822579003 10 O43175,O95831,P21912 3 |
| Abnormal corneal epithelium morphology 0.5369820632739795 1.5542126150662876 0.1201337093851051 1.0 0.7043710650915068 14 P02545,Q14739,P51648,O75844 4 |
| Abnormality of temperature regulation 0.3344710668468748 1.5511651014278345 0.1208621231059843 1.0 0.7059093668298108 104 Q9NZJ7,Q13510,P11413,P00813,Q5XKP0,P00846,Q14739,Q9HC07,P23786,Q2TAA5,Q03001,P61978,O43772,Q8NFH4,O15460,P35610,P03886,Q9HC21,Q8N1F7,Q01082,P06280,P50570,Q13043,P10253,P20700,Q9NZ08,P07602,P00403,Q9NR50,P51572,P35914,Q6UN15 32 |
| Abnormality of the fontanelles or cranial sutures 0.3284061748470633 1.5465293824352897 0.1219767696123381 1.0 0.7086913700941255 94 Q9Y487,O75431,P61978,O95831,O75718,P02545,Q9Y619,Q5SRE5,O75844,Q9BT22,Q08J23,P16435,O75845,P21964,P40855,Q8NCH0 16 |
| Limitation of joint mobility 0.3350309571904352 1.543967829648831 0.1225961262823647 1.0 0.7086913700941255 90 P25054,P48651,P48735,P23786,O75874,P16435,O75431,Q03001,P15586,Q9BT22,P37268,O15460,P51648,P35250,Q9HC21,P50402,Q8TAA9,O76024,P08236,P54802,O95140,P16278,Q8WVM7,Q7LGA3,Q9H2M9,Q8NBU5,Q15056,P01889,P02545,Q8TD16,O75844,O14979,Q9Y4P3,Q04656 34 |
| Hypercholesterolemia 0.5505176135249427 1.5432855222408204 0.1227615147933216 1.0 0.7086913700941255 12 O75431,Q9UJS0,Q8N511,P02545 4 |
| Type 1 muscle fiber atrophy 0.649393923444025 1.541105541694462 0.1232911013513498 1.0 0.7086913700941255 7 P02545,P50402 2 |
| Aplasia hypoplasia of the femur 0.5578240896648772 1.5408472532828696 0.123353965835059 1.0 0.7086913700941255 11 O75431,Q9UHX1,O95831,O00116 4 |
| Abnormality of the tarsal bones 0.4511555437956404 1.5400913609365543 0.1235380852983514 1.0 0.7086913700941255 25 P02545,O43175,Q5SRE5,O75844,Q14739,Q9UHX1,P16435 7 |
| Abnormal circulating sulfur amino acid concentration 0.6490350263510356 1.5393581247355277 0.1237168911205732 1.0 0.7086913700941255 7 P55263,P16930 2 |
| Dolichocephaly 0.4509385585897116 1.5383320276759258 0.1239674525817295 1.0 0.7086913700941255 25 P61978,O95202,Q5H8A4,P40855,Q03164,Q4J6C6 6 |
| Irritability 0.3633725862597042 1.5381077520298525 0.1240222708934495 1.0 0.7086913700941255 75 Q9NZJ7,O95831,Q13510,O43772,Q8NFH4,O43175,P07602,P61457,P00846,P37268,Q9NZ08,P21912,Q9UJS0,Q9HC21,Q5KU26,P50897,Q15067 17 |
| Absent hair 0.6044595574749315 1.5373165974690897 0.1242157989824312 1.0 0.7086913700941255 9 P02545,O75844 2 |
| Clonus 0.4206801803614641 1.5370765661595915 0.1242745607455413 1.0 0.7086913700941255 35 Q9NZJ7,O75298,O60220,Q99720,Q9Y619,Q9BQT8,P07602,P35637,O75027,P20700,Q9NW15 11 |
| Abnormal mitral valve physiology 0.4206177847067696 1.5364951135493314 0.1244169953218561 1.0 0.7086913700941255 35 P09493,P51812,P35250,Q9NX14,P01889,P02545,P06280,O75844,P04062,Q9Y4P3,O75431,O43819,Q9NZ08,P53701,Q8WVX9 15 |
| Functional motor deficit 0.3517870951685554 1.5363291102966516 0.1244576833924102 1.0 0.7086913700941255 138 Q9NZJ7,Q13510,Q96RL7,P00846,Q9H2D1,O43681,P23786,Q9BUK6,Q15067,Q969G3,O14773,Q9NWM8,P61978,Q9Y2R0,Q9NX14,P00558,P04062,P35670,Q8NI60,P43243,Q9HC21,P03886,P53701,O00429,Q12768,O75298,Q99720,O95140,P50570,Q07021,Q9UMX1,Q8IUX1,O43819,P20700,Q6PI48,P21912,Q9H0B6,O43292,P07602,P00403,Q8TD16,Q5THJ4,Q9H845,P31483,P35637,Q8WVX9 46 |
| Hypertriglyceridemia 0.4649077411432895 1.5295391409380934 0.1261308435572778 1.0 0.7128588969207348 21 P50402,P02545,P31751,O95470,O75431 5 |
| Back pain 0.4587200776842457 1.528609349372938 0.1263613168777688 1.0 0.7132743153945115 22 Q9UGP8,P50402,P36551,Q8TAA9,Q01082,P02545,Q8WVX9,Q9UMX1,P35670,P01889,Q969G3 11 |
| Toxemia of pregnancy 0.7028642963587659 1.5275852926160096 0.1266155356553198 1.0 0.7138225732230437 6 P02545,Q14739 2 |
| Renal agenesis 0.3837508730662851 1.526149268402042 0.126972694464734 1.0 0.7146627705143324 45 Q86XL3,Q8TAA9,P62847,O43175,O43924,Q15392,Q9UHX1,Q7LGA3,P16435,O43819 10 |
| Periventricular white matter hyperintensities 0.623348484743686 1.5247673470116636 0.1273171370275481 1.0 0.7146627705143324 8 P07602,P17900,O75503 3 |
| Abnormal cns myelination 0.3489714340583276 1.524118670663549 0.1274790694861503 1.0 0.7146627705143324 134 O95831,Q7KZN9,O43676,O43175,Q86Y39,Q5H8A4,Q15067,Q9H490,Q9NPL8,Q9Y584,Q5SRE5,P51648,Q9Y6M9,P40855,P03886,Q9P0J0,P07686,Q99720,Q7LGA3,Q8IUX1,O43819,P20700,P21912,Q9NWS8,P07602,P51572,O96000,P35637,Q5T8D3,Q96CU9 30 |
| Abnormality of krebs cycle metabolism 0.8108835111395398 1.5239500062726796 0.127521200292028 1.0 0.7146627705143324 5 P00846 1 |
| Abnormal atrioventricular valve morphology 0.4277863076203503 1.5238309425988037 0.1275509478184691 1.0 0.7146627705143324 32 P51812,P35250,Q12768,Q9NX14,P02545,P55795,O75844,P04062,Q15233,Q9Y4P3,O75431,P21964,Q15056,P53701 14 |
| Infantile spasms 0.433932790088483 1.5218113925159626 0.1280563460782233 1.0 0.7166108824870036 30 P00846,Q9UBX3,P03886 3 |
| Hypoglycemic coma 0.6005318490857985 1.5165252894238854 0.1293865806079552 1.0 0.7200442778171433 9 P31751,Q13423,Q16836,P00367 4 |
| Abnormality of the autonomic nervous system 0.3788150523634062 1.5162261164823698 0.1294621863944995 1.0 0.7200442778171433 48 Q9NZJ7,O43464,O76024,P07686,Q10713,P07602,Q96RL7,P06280,P04062,O15269,Q9UMX1,O43681,P21964,P20700,P42892,Q04656,Q15067 17 |
| Clonic seizure 0.7000414997085402 1.5146724277867476 0.1298553802321524 1.0 0.7204674576006116 6 Q9NZJ7,P07602,Q9H936 3 |
| Abnormality of upper limb joint 0.3280945665598888 1.5138979203677272 0.1300517316740257 1.0 0.7206621997993622 97 P50402,O95831,Q13510,P02545,O43175,Q9Y619,P16278,O75844,Q15392,O95202,P37268,Q7LGA3,P23786,P42892,P16435,Q03164 16 |
| Abnormality of visual evoked potentials 0.4566740687028942 1.5126591168484724 0.1303662694179304 1.0 0.7206621997993622 22 Q9NZJ7,O60220,Q9H936,P07602,O95140,O60313,O43681,Q9H2M9,Q15067,O75503 10 |
| Urinary glycosaminoglycan excretion 0.8079915665470054 1.5117517417111932 0.1305970302991665 1.0 0.7210606387356172 5 P54802,P16278,P15586 3 |
| Ovarian cyst 0.5300345451888299 1.5106805741319476 0.1308698540809623 1.0 0.7216900691066659 14 Q03252,P02545,P31751,P21912,P16435 5 |
| Ovoid vertebral bodies 0.6986964278940409 1.508515730173315 0.1314225838231359 1.0 0.723089217372872 6 P54802,P15586 2 |
| Abnormal circulating methionine concentration 0.6985413921821066 1.507805946081982 0.1316041998914854 1.0 0.723089217372872 6 P55263,P16930 2 |
| Wide anterior fontanel 0.4732903388573036 1.5071744704782528 0.131765942237636 1.0 0.723089217372872 19 Q9Y487,O75718,Q32P28,P16435,P40855,Q08J23 6 |
| Abnormal urine protein level 0.3775079190656577 1.5060701918684871 0.1320491556855887 1.0 0.723089217372872 56 Q03252,Q14108,P09601,Q8NFH4,P35250,Q8N1F7,P00403,O95470,P04062,P21912,O75431,P35670,P03886 13 |
| Coxa valga 0.473124007809066 1.5059501288702477 0.132079976551859 1.0 0.723089217372872 19 P02545,Q9Y619,P16278,O75844,P04066 5 |
| Premature skin wrinkling 0.4892032470572766 1.505711628519526 0.1321412175037082 1.0 0.723089217372872 17 Q9Y487,P02545 2 |
| Abnormality of the tonsils 0.697426844753214 1.502702418605861 0.1329157987647655 1.0 0.7233166342360415 6 P21964,P00813 2 |
| Hyperesthesia 0.8699932111337341 1.4940623078918895 0.1351593344759931 1.0 0.7307655853711852 2 P07602 1 |
| Bilateral tonic clonic seizure with focal onset 0.8699932111337341 1.4940623078918895 0.1351593344759931 1.0 0.7307655853711852 2 P07602 1 |
| Severe global developmental delay 0.3742459754638315 1.4937172861700565 0.1352495284544821 1.0 0.7307655853711852 61 P55263,Q9H490,O43175,O75381,P00846,Q9BT22,P03886,Q5H8A4,Q7LGA3,Q96A33,P40855,Q15067 12 |
| Hemivertebrae 0.5418984303837496 1.491838317206893 0.1357415362333063 1.0 0.7312679460511042 12 Q12768,Q9Y619,Q9UHX1,Q9UMX1,P16435 5 |
| Aplasia hypoplasia of the breasts 0.6167399855602933 1.4911461775207542 0.1359231208774032 1.0 0.7312679460511042 8 P02545 1 |
| Infantile axial hypotonia 0.5702046301104605 1.4910652877564654 0.1359443547524881 1.0 0.7312679460511042 10 Q9NZJ7,P07602,P17900 3 |
| Long eyelashes 0.4303545150317846 1.490636668518841 0.1360569117011665 1.0 0.7312679460511042 30 Q96T58,Q9UM00,Q4J6C6,Q9Y619,Q9UQ13,Q8WVM7,Q9UHX1,Q6NUK1,Q5KU26,Q8TAQ2,Q03164,Q969G3 12 |
| Vaginal atresia 0.8689748811948379 1.4895420969182245 0.1363446766098268 1.0 0.7312679460511042 2 P16435 1 |
| Disproportionate short limb short stature 0.4969682636595542 1.4890954963592038 0.1364622235811445 1.0 0.7312679460511042 16 Q32P28,O75718,Q15392,Q14739,O00116,Q03164 6 |
| Abnormal renal tubule morphology 0.4536527717327724 1.489069690766647 0.1364690181010863 1.0 0.7312679460511042 22 P00846,P23786,P35250,O43819,P03886 5 |
| Limb girdle muscle atrophy 0.5412714007840164 1.4880874973413512 0.1367278202434394 1.0 0.7317917728930374 12 P02545,O14979 2 |
| Abnormality of the larynx 0.3843774964135044 1.4861515273088066 0.1372390455485581 1.0 0.7336637917325274 44 Q9NZJ7,Q13510,Q92804,P02545,P07602,P09651,Q14739,P50995,Q9UHX1,Q15165,P35637,P16435,P21964,P43243,Q96HY6 15 |
| Aplasia hypoplasia of toe 0.4265268872058877 1.4835744194453937 0.1379218599086487 1.0 0.7344325106431387 31 Q13510,P02545,P00813,O95202,P13073,Q9UHX1,Q5H8A4,Q03164 8 |
| Low frustration tolerance 0.5942992180912908 1.483464495070094 0.1379510429069577 1.0 0.7344325106431387 9 Q9UHX1,Q03164 2 |
| Abnormality of the palm 0.3271509995748671 1.4806125001290873 0.1387098624601874 1.0 0.7344325106431387 99 P09493,O95831,P25054,P48651,Q9Y619,O75381,Q14739,Q9UHX1,P16435,O75431,P98175,Q9Y487,P82673,P51812,P61978,Q5SRE5,O95202,Q6NUK1,P40855,Q8NCH0,Q01082,P42166,Q9H9E3,Q9UQ13,Q9UMX1,Q13043,Q9H2M9,P16615,P53634,P02545,Q13555,P42167,P21912,Q04656 34 |
| Hyperventilation 0.6925758755509019 1.4804715106800366 0.1387474582244556 1.0 0.7344325106431387 6 P00846 1 |
| Abnormal brain lactate level by mrs 0.5935556305868828 1.4795146926947391 0.1390028074404075 1.0 0.734452043033967 9 O43819,P00403,P03886 3 |
| Lambdoidal craniosynostosis 0.8962180494888382 1.4771200042574173 0.1396434721536303 1.0 0.7345461324292921 3 P16435 1 |
| Abnormality of circulating enzyme level 0.3234248030869963 1.4768507632147132 0.1397156456424022 1.0 0.7345461324292921 93 P09493,P50416,O95831,O43505,Q96RL7,P22626,Q9HC07,P23786,Q9BUK6,Q08J23,Q9NWM8,Q16836,Q9Y584,O43772,P35250,P43243,P50402,P42166,P09651,P50570,Q07021,P10253,Q5JRX3,P02545,Q96BR5,P53985,O14979,Q9H845,P31483,P42167 30 |
| Mitral stenosis 0.8960950764006699 1.476610794443887 0.1397799965183979 1.0 0.7345461324292921 3 P02545,O75844 2 |
| Aortic valve calcification 0.8960950764006699 1.476610794443887 0.1397799965183979 1.0 0.7345461324292921 3 P02545,O75844 2 |
| Generalized muscle weakness 0.4286956808656376 1.4761608487918871 0.139900717013091 1.0 0.7345461324292921 30 O95831,Q92804,P09651,P50995,Q15165,P35637,P10253,P43243,P21912 9 |
| Brushfield spots 0.8652410047522047 1.4729685081619488 0.1407595275343287 1.0 0.7345461324292921 2 P40855 1 |
| Waddling gait 0.4459150460552247 1.4722610805859728 0.1409503887918322 1.0 0.7345461324292921 24 P50402,Q13510,P02545,Q8TD16,P22626,Q5T8D3,Q4J6C6 7 |
| Abnormal tongue morphology 0.3729965093887613 1.472066042851286 0.141003044198499 1.0 0.7345461324292921 60 Q10713,P48651,Q96RL7,O75431,Q03252,P61978,O43924,O15460,P04066,P35250,Q6NUK1,P07686,Q01082,P16278,Q7LGA3,Q9H2M9,P10253,P20700,P01889,Q9Y4P3,P02545,O75844,Q96A33,P21912 24 |
| Mitochondrial inheritance 0.9073393803779792 1.4699491173131412 0.1415755353684098 1.0 0.7345461324292921 4 P00846,P03886 2 |
| Pathologic fracture 0.5090861320359851 1.469113247997975 0.1418020750245752 1.0 0.7345461324292921 15 Q14108,P09651,P22626,P04062,O75845,P35670 6 |
| Squamous cell carcinoma 0.545516835441373 1.468940109810697 0.141849034218169 1.0 0.7345461324292921 11 P53634 1 |
| Abnormal ureter morphology 0.4568906224520472 1.4681803325505294 0.1420552451168639 1.0 0.7345461324292921 21 Q15058,Q8TAA9,O76024,P02545,O75844,Q7LGA3,P23786 7 |
| Osteolysis 0.4329248187072008 1.466380142928714 0.1425447529375791 1.0 0.735213799487355 28 Q14108,P02545,O75844,P22626,P48735,O75431,P53634 7 |
| Retinal arteriolar tortuosity 0.5654319232010563 1.464354889187632 0.1430970069681909 1.0 0.7366406686464542 10 P00846 1 |
| Constriction of peripheral visual field 0.4674581441487881 1.464176889864567 0.1431456228905852 1.0 0.7366406686464542 19 O60220,O75381,P00846,P40855,Q9H061 5 |
| Overtubulated long bones 0.8922770663144959 1.4608000809962487 0.1440703136099506 1.0 0.7369746550877142 3 P02545 1 |
| Limited hip movement 0.5220776078300587 1.4606424237305646 0.1441135974273197 1.0 0.7369746550877142 14 P02545,Q8TD16,O75844 3 |
| Abnormality of prothrombin 0.5365621901043658 1.4598834300160692 0.1443221139456694 1.0 0.7369746550877142 12 P49257,Q16836,Q5XKP0,P35914,Q13043,Q9UJS0 6 |
| Vascular tortuosity 0.8916741499767749 1.4583031982505286 0.1447569890691686 1.0 0.7369746550877142 3 P00846 1 |
| Abnormal abdomen morphology 0.3767352512297979 1.4578958577986507 0.1448692505572626 1.0 0.7369746550877142 205 Q9NZJ7,P50416,Q13510,Q96AA3,P11413,O75533,O43676,Q10713,Q9Y619,Q96RL7,P00813,O75381,P00846,Q86Y39,Q14739,Q9HC07,P23786,O75431,Q15067,Q9NPL8,Q14108,P09601,O43772,P10619,P09622,P31751,P15586,Q9BT22,P04062,P04066,Q9UJS0,P21964,Q9Y6M9,P40855,P35610,P03886,P35670,Q9HC21,Q9BUB7,P07686,Q16625,P54802,P16278,Q15392,O15118,Q07021,Q8IUX1,Q13043,P10253,P16930,Q9NZ08,Q9NWS8,P36551,P02545,P07602,Q15904,P33991,Q01844,Q96A33,P35914,O96000,O75845,Q96CU9,Q96HY6 64 |
| Primary adrenal insufficiency 0.5429841466488909 1.4540934303691513 0.1459204047380411 1.0 0.7369746550877142 11 Q13423,O75381,Q9UMX1,P16435,P40855 5 |
| Abnormality of the upper respiratory tract 0.3244005281279493 1.4533765077756955 0.1461192454112496 1.0 0.7369746550877142 92 Q9NZJ7,Q13510,P25054,P00813,Q14739,Q9UHX1,Q86U42,P16435,Q92804,P15586,P50995,O15460,Q15165,P04066,P21964,P43243,O15344,Q01082,P54802,P08236,P16278,P09651,Q13432,P01889,P02545,P07602,P35637,Q96HY6 28 |
| Aplasia hypoplasia of the skin 0.3735217831448126 1.453319592038416 0.1461350400450769 1.0 0.7369746550877142 53 Q9NWM8,P02545,Q9Y619,Q15392,O75844,O95202,Q5H8A4,O75431,P53634,Q8NCH0 10 |
| Meningocele 0.5886203176379319 1.4532705231395393 0.1461486581587632 1.0 0.7369746550877142 9 O75845,P21964,Q10713 3 |
| Abnormality of the peripheral nervous system 0.3334998264282278 1.4516170609257208 0.1466081122236358 1.0 0.7369746550877142 88 Q9NZJ7,O95831,Q10713,Q9Y619,Q96RL7,O60313,Q15067,O43464,Q9UBB4,P04062,P21964,P42892,P43243,Q9NQZ5,O76024,P07686,Q99720,O95140,P06280,P50570,O15269,P20700,P02545,O60220,P07602 25 |
| Hypersplenism 0.6307951845995786 1.450261811074304 0.1469855241436399 1.0 0.7369746550877142 7 P07602,Q14108,P04062 3 |
| Progressive 0.3257788414582571 1.449703934385402 0.1471410981348826 1.0 0.7369746550877142 100 P55263,Q9NR28,O95831,Q13510,P04350,Q15043,Q96RL7,O95470,Q5XKP0,O60313,Q96D71,P27544,Q03252,P15586,P04062,Q9Y6M9,O00429,Q8N1F7,Q12768,O75298,Q99720,P54802,P20700,O00400,Q9H0B6,P02545,Q9Y4W6 27 |
| Pectus excavatum 0.3566893843667755 1.4491720988195584 0.1472895272838632 1.0 0.7369746550877142 75 O75718,O00330,Q9UHX1,O75431,Q9BUK6,P98175,Q08J23,Q03164,Q9Y487,Q9H490,P51812,P61978,P04062,P35250,Q8NCH0,P50402,Q9H9E3,Q9UQ13,Q7LGA3,Q9H2M9,P07437,Q9Y4P3,P02545,P78318,Q96A33,P21912,Q04656 27 |
| Hyperreflexia in upper limbs 0.6084109658890163 1.448654714130831 0.1474340331794286 1.0 0.7369746550877142 8 O75298,P21912 2 |
| Gastric ulcer 0.8888714183550703 1.4466957241128118 0.1479821625709678 1.0 0.7369746550877142 3 P04062 1 |
| Osteolysis involving bones of the upper limbs 0.6299549348210898 1.44614443286624 0.1481366953733771 1.0 0.7369746550877142 7 P02545,P53634,O75844 3 |
| Extra axial cerebrospinal fluid accumulation 0.8591310251188038 1.4458516207665508 0.1482188238336208 1.0 0.7369746550877142 2 P20700 1 |
| Abnormal placental size 0.9011911330005512 1.445823224881145 0.14822679021194 1.0 0.7369746550877142 4 P02545,O75844 2 |
| Abnormality of salivation 0.3958274660811242 1.4457822010435264 0.1482382999010059 1.0 0.7369746550877142 40 Q03252,P51812,Q92804,Q01082,P55795,Q96RL7,P09651,P15586,Q14739,P50995,Q15165,Q15233,P35637,P35670,P43243 15 |
| Unusual infection by anatomical site 0.5194049947676259 1.4437938212652457 0.148796980556779 1.0 0.7372949405412043 14 Q8TAA9,Q14739,O15460,Q9NZ08,Q9BUB7 5 |
| Large placenta 0.888081816584004 1.4434255048438067 0.1489006436998676 1.0 0.7372949405412043 3 P02545 1 |
| Loss of speech 0.4644697534332581 1.442092557440473 0.1492762643701382 1.0 0.7372949405412043 19 O15118,P07602,P50897 3 |
| Enlarged thorax 0.5301936083511253 1.4386297136935684 0.1502554629941213 1.0 0.7411523801539707 13 P02545,Q14739,P04066,O75844 4 |
| Bone pain 0.4471303657890983 1.4380025158621443 0.1504333403059647 1.0 0.7411523801539707 22 Q9NZJ7,Q14108,P51798,P07602,P48735,P04062,O75874,P35670,Q6UN15 9 |
| T lymphocytopenia 0.6282126608362215 1.4376035354539656 0.1505465772187753 1.0 0.7411523801539707 7 Q13432 1 |
| Abnormal astrocyte morphology 0.4688385645580465 1.4365278514039088 0.1508521970227945 1.0 0.7412762952071247 18 O95831 1 |
| Abnormal peripheral nervous system physiology 0.3709423400180833 1.43450842748739 0.1514272258783604 1.0 0.7412762952071247 46 Q9NZJ7,Q9NQZ5,O95831,P02545,O60220,Q99720,Q9Y619,Q96RL7,O95140,P07602,O60313,P50570,Q9UBB4,P20700,P43243 15 |
| Abnormal chorioretinal morphology 0.4461658287451079 1.4304347016336567 0.1525922945221551 1.0 0.7413661866443753 22 P04439,Q12768,Q10713,Q9Y619,O43505,O75381,Q5XKP0,P40855,P53701 9 |
| Migraine 0.4572456328218189 1.4281157111588083 0.1532585560667296 1.0 0.7413661866443753 20 O00429,Q9NQZ5,P00558,P00403,O60313,Q9NZ08,P03886 7 |
| Abnormality of circulating adrenocorticotropin level 0.6811692726036469 1.4280871559607942 0.1532667739345132 1.0 0.7413661866443753 6 Q13423,Q9UMX1,P16435,P10644,Q969G3 5 |
| Broad palm 0.6809991144909764 1.4273046077938063 0.1534921130357067 1.0 0.7413661866443753 6 O95831 1 |
| Paraparesis 0.4372980874146103 1.4272656923193232 0.1535033255350721 1.0 0.7413661866443753 25 Q13510,Q9Y619,Q8WVX9,Q9Y4W6,P04062,P35637,Q6DKK2,P21912 8 |
| Mitral valve calcification 0.8963994565217429 1.4270133258761464 0.1535760535915773 1.0 0.7413661866443753 4 P02545,O75431,O75844 3 |
| Cardiac valve calcification 0.8963994565217429 1.4270133258761464 0.1535760535915773 1.0 0.7413661866443753 4 P02545,O75431,O75844 3 |
| Abnormal conjunctiva morphology 0.4454392482095496 1.424731262771629 0.1542348984946564 1.0 0.7413661866443753 22 Q13510,P10619,Q14739,P04066,P21912,Q9NZ08,Q9NW15 7 |
| Abnormal choroid morphology 0.4397336011153754 1.4224985387210214 0.1548815754244796 1.0 0.7413661866443753 24 P04439,Q12768,Q10713,Q9Y619,O43505,O75381,Q5XKP0,P40855,P53701 9 |
| Deep palmar crease 0.5374677878639896 1.4217014906701488 0.1551129272058389 1.0 0.7413661866443753 11 Q9Y487,P61978,O75431,Q6NUK1,P98175 5 |
| Platyspondyly 0.4195366283479889 1.4215703254438778 0.1551510244564946 1.0 0.7413661866443753 31 P82673,O95831,Q32P28,P00813,P08236,P16278,P48735,Q14739,P04066,Q5JRA6,O75874,Q6NUK1,Q04656,Q96HY6 14 |
| Abnormality of the lymphatic system 0.3403624326049009 1.4208749039428967 0.1553531299781851 1.0 0.7413661866443753 130 Q9NZJ7,Q13510,O75533,P11413,Q10713,P00813,P48735,Q14739,Q14108,P10619,P31751,P15586,O95202,Q9BT22,P04062,P04066,Q9UJS0,P21964,P35670,P07686,Q16625,P54802,P16278,Q15392,O15118,Q13043,P10253,P16930,Q9NZ08,P36551,P02545,P07602,Q15904,P33991,Q01844,Q96A33,O75845,Q6UN15,Q96HY6 39 |
| Acquired abnormal hair pattern 0.786289208632754 1.4200193743189715 0.1556020407189082 1.0 0.7413661866443753 5 P02545 1 |
| Capillary hemangioma 0.6791246506009775 1.418682015471535 0.1559917427654784 1.0 0.7413661866443753 6 Q9UHX1,P16435 2 |
| Thickened ribs 0.8941028454918146 1.4179960247025116 0.1561919253856218 1.0 0.7413661866443753 4 P54802,P15586 2 |
| Amelogenesis imperfecta 0.8526816021724274 1.4172367133951511 0.1564137312322862 1.0 0.7413661866443753 2 Q9HC07 1 |
| Flat face 0.4661163525402563 1.4167402018085586 0.1565588985994344 1.0 0.7413661866443753 18 Q9Y487,P07437,Q13555,P08236,O75381,P40855,Q9BUB7,Q03164 8 |
| Lower limb hypertonia 0.5568285119659059 1.416075357761107 0.1567534420753449 1.0 0.7413661866443753 10 O00400,Q14739,P21912 3 |
| Joint laxity 0.3589543639745116 1.4117433020860948 0.1580255582755336 1.0 0.7413661866443753 71 Q9Y619,Q9UHX1,Q5H8A4,Q9HC07,Q9BUK6,Q969G3,Q9Y487,Q8WXI9,P61978,P35250,Q8NCH0,Q32P28,Q01082,P16278,Q9UQ13,Q8WVM7,Q15233,Q9H2M9,Q15056,Q8TAQ2,P55795,Q96A33,Q9Y4P3,Q04656,Q96HY6 25 |
| Abnormal renal physiology 0.3492467491517187 1.4102389044196908 0.1584691518052339 1.0 0.7413661866443753 149 P50416,O43676,Q10713,P00813,O95470,Q86Y39,P23786,Q03252,Q9NPL8,Q14108,P09601,O43772,Q8NFH4,P05023,Q9BT22,P04062,P35250,Q9Y6M9,P40855,P35670,Q8NCH0,P03886,P49257,Q8TAA9,Q8N1F7,O76024,Q16625,P06280,Q07021,Q8IUX1,O43819,P16930,Q9NZ08,Q9NWS8,P36551,P00403,O96000,P21912,Q96CU9 39 |
| Progeroid facial appearance 0.6760386127692608 1.4044782142884809 0.1601764945782893 1.0 0.7413661866443753 6 P02545,O75431,O75844 3 |
| Female hypogonadism 0.8902297849805705 1.402786751755286 0.1606804387680016 1.0 0.7413661866443753 4 P02545 1 |
| Corpus callosum atrophy 0.4986110738814266 1.400453322316107 0.1613776119368912 1.0 0.7413661866443753 15 Q8WVX9,O60313,P51572,P20700,O75503 5 |
| Aplasia hypoplasia of the clavicles 0.5266501261597798 1.4003300620828558 0.1614145025835214 1.0 0.7413661866443753 12 P02545,Q9Y619,O75844 3 |
| Retinal telangiectasia 0.7815855460417962 1.400099992447866 0.1614833773317587 1.0 0.7413661866443753 5 P00846 1 |
| Posteriorly rotated ears 0.320898398059031 1.3995472489370195 0.161648939978765 1.0 0.7413661866443753 97 Q10713,Q9Y619,O43505,Q9UHX1,Q5H8A4,P16435,Q9HC07,P23786,Q08J23,Q9H490,O43924,O95202,P37268,P04062,P40855,P42892,Q8NCH0,Q15392,Q7LGA3,Q4J6C6 20 |
| Short middle phalanx of finger 0.8774824737446676 1.3995269795796357 0.1616550136718584 1.0 0.7413661866443753 3 Q03164 1 |
| Skin nodule 0.4478473841899236 1.398636556248646 0.1619219982200452 1.0 0.7413661866443753 21 Q13510,P25054,P01889,P06280,P48735,P35637,P21912,O75874,Q9NZ08,Q92990,P16615 11 |
| Tremor 0.3537398202856465 1.3983996795047304 0.1619930793659547 1.0 0.7413661866443753 160 Q9NZJ7,O95831,Q13510,Q02978,Q10713,Q15043,Q96RL7,P00846,O60313,O75027,Q9BUK6,O43464,O14773,Q14108,P00558,O43924,P61457,Q6P4A7,Q9UBB4,P04062,Q9UJS0,P35250,Q8NI60,P35670,Q6DKK2,P03886,Q9BUB7,O00429,Q9NQZ5,O76024,Q01082,Q99720,O95140,Q15233,Q9UMX1,P35637,Q9H2M9,P20700,Q6PI48,O75503,P21912,Q9H936,O43292,Q5JRX3,O60220,P07602,Q96BR5,Q5THJ4,Q9Y4W6,Q9Y4P3,Q5T8D3,Q9NW15,Q8WVX9 53 |
| Pancreatic islet cell hyperplasia 0.8770797962648496 1.3978593506192516 0.1621553075016915 1.0 0.7413661866443753 3 Q14739,P16930 2 |
| Abnormal protein glycosylation 0.4738025199909298 1.3975149190998664 0.162258783457704 1.0 0.7413661866443753 17 Q9Y487,Q96AA3,Q8N511,Q15904,Q9BT22 5 |
| Hypermetric saccades 0.8764006791171433 1.3950469263476732 0.1630016891653707 1.0 0.7413661866443753 3 O14773,Q9NW15 2 |
| Infectious encephalitis 0.5776471055585729 1.3947484788753386 0.1630917002473415 1.0 0.7413661866443753 9 Q14739,Q9NZ08,Q9BUB7 3 |
| Photoreceptor layer loss on macular oct 0.8475899524779328 1.3946552024821322 0.1631198398826314 1.0 0.7413661866443753 2 Q96S66 1 |
| Abnormal optical coherence tomography 0.8475899524779328 1.3946552024821322 0.1631198398826314 1.0 0.7413661866443753 2 Q96S66 1 |
| Retinal thinning 0.8475899524779296 1.3946552024821175 0.1631198398826359 1.0 0.7413661866443753 2 P51648 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.57749882827152 1.3939561572743964 0.1633308444790309 1.0 0.7413661866443753 9 P07602,P04062,P20700 3 |
| Hyperglycemia 0.6192762206419232 1.3937256331507817 0.1634004725596807 1.0 0.7413661866443753 7 P02545,P35610,O75844 3 |
| Global brain atrophy 0.4578980926891347 1.3934084464770118 0.1634963129858353 1.0 0.7413661866443753 19 O60220,P07602,Q9UHX1,P35637,O43819 5 |
| Tissue ischemia 0.4576193799407743 1.391340191310403 0.1641222916632205 1.0 0.7413661866443753 19 P02545,P06280,O75844,O15460,P35250,Q9NZ08,P01889 7 |
| Pigmentary retinopathy 0.3711812003076656 1.3890380778948694 0.1648211714821876 1.0 0.7426622677158428 45 Q9P0J0,Q96S66,Q7KZN9,O76024,P00403,P00846,P03886,P21912,Q9BUK6,Q96CU9,Q15067,P53701 12 |
| Abnormality of extrapyramidal motor function 0.3603142821505882 1.3887494843916446 0.1649089410486983 1.0 0.7426622677158428 68 Q9NZJ7,P12235,Q9BPX6,Q15043,Q96RL7,P98175,O43464,P61457,Q9UBB4,P04062,P35250,P35610,Q6DKK2,P17900,P07686,Q99720,P16278,P35637,Q15056,O14949,Q9H0B6,P11802,P07602,Q9Y4W6,P06865,Q06787,Q9Y4P3 27 |
| Developmental regression 0.3302009475805979 1.3865230547189122 0.1655872454577087 1.0 0.7442078193459761 115 Q9NZJ7,O95831,Q13510,Q15043,O95470,O75381,P00846,Q15067,O14773,P13073,P35250,P40855,Q8NI60,P03886,P17900,O76024,P07686,P16278,P06280,O43819,Q9NZ08,O75503,Q9H936,P55795,P07602,Q9NR50,P21912 27 |
| Abnormality of the distal phalanges of the toes 0.8855298913043522 1.384327525728285 0.1662581893457542 1.0 0.7442078193459761 4 P02545,O75431,O75844 3 |
| Adipose tissue loss 0.6173218949323913 1.3841149730153557 0.1663232528924585 1.0 0.7442078193459761 7 P02545,O75431,O75844 3 |
| Diffuse white matter abnormalities 0.5752871925887305 1.382133620112332 0.1669306771943688 1.0 0.7442078193459761 9 O75306,Q9H270,O14936,Q3ZCQ8,P16278,O43819,Q9H936 7 |
| Blurred vision 0.7773080892921223 1.381976244992611 0.1669789951374047 1.0 0.7442078193459761 5 P00846 1 |
| Stroke 0.417908164842412 1.3816770861913783 0.1670708730560026 1.0 0.7442078193459761 30 Q96AA3,O76024,P02545,P00403,O75844,P35250,P03886 7 |
| Abnormal upper motor neuron morphology 0.5953278172388154 1.3816655327855178 0.167074422110101 1.0 0.7442078193459761 8 Q99720 1 |
| Meningitis 0.6704857781224272 1.3788971046495389 0.1679264810095042 1.0 0.7459021795769182 6 O15460,Q9NZ08,Q8TAA9 3 |
| Acne 0.5201336638359172 1.3770436451235983 0.1684987543726239 1.0 0.7470351679748503 13 P21964,Q9NZ08 2 |
| Cerebral calcification 0.4223730367344049 1.376381525775389 0.1687035445062261 1.0 0.7470359800067481 28 Q16625,O43175,P00403,P23786,O75845,P53634,P03886 7 |
| Large for gestational age 0.5496982503236886 1.3759428164112226 0.1688393379108561 1.0 0.7470359800067481 10 Q9UM00,P31751,O00330,P50570,Q9UMX1 5 |
| Gastrointestinal hemorrhage 0.4141045684588412 1.3732152395314268 0.169685443426852 1.0 0.7491613951757915 31 Q04656,P49257,O76024,P25054,Q14739,Q9UHX1,P21912,Q9UJS0,P21964,P16930,Q9NZ08,P01889 12 |
| Macular degeneration 0.5194420764092761 1.3728007011768208 0.1698143127269069 1.0 0.7491613951757915 13 Q13510,P04062,P51648,P50897,Q9NW15 5 |
| Abnormal gastrointestinal motility 0.4272234829766698 1.370411100598402 0.1705586088662005 1.0 0.7513305608031733 26 P61978,O76024,P00403,Q01844,P35637,P16930,P03886 7 |
| Abnormality of thalamus morphology 0.521508342355796 1.3693425226633589 0.1708922318152979 1.0 0.7513305608031733 12 O43819,Q9UMX1 2 |
| Death in infancy 0.3661382113409915 1.369102024662216 0.170967385534877 1.0 0.7513305608031733 54 Q9NZJ7,O75718,O75381,Q15067,O43464,Q9BT22,P04062,Q6NUK1,P40855,Q9HC21,Q9BUB7,O00429,Q12768,P16278,O43819,Q9NWS8,P02545,P07602,Q15904 19 |
| Thick eyebrow 0.373117751434555 1.365200782409666 0.1721899525355188 1.0 0.7518996547466575 44 P51812,Q9BSJ2,O95831,Q9UM00,Q01082,Q96EK5,P08236,P15586,Q9UHX1,P04066,Q6NUK1,P98175,Q08J23,Q8TAQ2,Q03164,Q969G3 16 |
| Nonketotic hypoglycemia 0.7733333590785474 1.3651281631142462 0.1722127717356443 1.0 0.7518996547466575 5 P31751,P35914,P23786 3 |
| Increased susceptibility to fractures 0.3652854138961781 1.3644237373179835 0.1724342412540531 1.0 0.7518996547466575 48 Q14108,O75718,Q32P28,O60220,P22626,P48735,Q14739,P04062,P16435,O75845,P35670 11 |
| Atrophy degeneration involving the caudate nucleus 0.7730177000519591 1.3637898853416468 0.1726337045854222 1.0 0.7518996547466575 5 P00846,O60220 2 |
| Abnormal liver morphology 0.3771216708426916 1.3630791727514628 0.1728575598992616 1.0 0.7518996547466575 222 P55263,P50416,Q9NZJ7,Q13510,Q96AA3,Q7KZN9,O75533,O43676,Q10713,Q9Y619,Q96RL7,P00813,O75381,P22626,Q5XKP0,P00846,Q86Y39,Q14739,Q9HC07,P23786,O75431,Q15067,Q03252,Q9NPL8,Q14108,P09601,O43772,Q16836,P10619,P09622,P31751,Q8N511,P15586,Q9BT22,P04062,P04066,Q9UJS0,Q9Y6M9,P40855,P35670,P35610,P03886,Q9HC21,Q9BUB7,P07686,Q16625,P54802,P16278,P09651,O15118,Q07021,Q8IUX1,Q13043,P10253,P53634,P16930,Q9NWS8,P36551,P02545,P07602,Q15904,P33991,Q01844,Q96A33,P35914,O96000,O75845,Q96CU9,Q96HY6 69 |
| Verrucae 0.8404616429056284 1.36305978342844 0.1728636700534069 1.0 0.7518996547466575 2 P16615 1 |
| Palmar telangiectasia 0.8404616429056269 1.363059783428433 0.1728636700534092 1.0 0.7518996547466575 2 Q14739 1 |
| Telecanthus 0.3995468945114974 1.3628903701970634 0.1729170640867643 1.0 0.7518996547466575 36 P02545,Q8NCH0,O75844,Q86XL3,Q08J23,Q03164,P21964 7 |
| Hypoplastic vertebral bodies 0.6655788198077994 1.3562679396909432 0.1750139323051271 1.0 0.7545192679264686 6 Q14739,P16278 2 |
| High pitched voice 0.570062260615583 1.3541696787026003 0.1756822502129797 1.0 0.7560792054340992 9 P02545,O75844 2 |
| Frequent falls 0.3895685122397102 1.350086476792288 0.1769882456225744 1.0 0.7594669732207509 39 Q13510,P07602,Q5THJ4,P00846,P04062,P21912,O43819 7 |
| Abnormal circulating long chain fatty acid concentration 0.8655348047538174 1.3500583884585626 0.1769972545424241 1.0 0.7594669732207509 3 P40855,P23786 2 |
| Myalgia 0.3828192968299636 1.348794094560026 0.1774031120671688 1.0 0.7604903219181276 41 O00429,P02545,P00558,P06280,Q9H845,Q14739,O60313,O15460,P50570,Q8IUX1,P23786,Q9BUK6,P21964,P20700,P43243,Q9NZ08,P01889 17 |
| Abnormal head movements 0.5444707884655817 1.346456008955219 0.1781554984124818 1.0 0.7615676678371343 10 Q99720,Q96RL7,P20700,P35637 4 |
| Adrenal hypoplasia 0.5883478084981981 1.345815235480448 0.1783621107156365 1.0 0.7615676678371343 8 P02545 1 |
| Abnormal morphology of the conjunctival vasculature 0.6632194631386256 1.3453801457417789 0.1785025035407161 1.0 0.7615676678371343 6 Q9NW15,P04066,P10619 3 |
| Abnormal autonomic nervous system physiology 0.4079790427808124 1.3453542047657208 0.1785108766561951 1.0 0.7615676678371343 32 Q9NZJ7,O43464,O76024,P07686,P07602,Q96RL7,P06280,P04062,P20700,P42892,Q04656,Q15067 12 |
| Neurofibromas 0.76832257303662 1.3438802112424193 0.178987126063173 1.0 0.7615676678371343 5 Q01082,Q9UMX1,P21912 3 |
| Achilles tendon contracture 0.5172207024832517 1.3434564146620365 0.1791242300906899 1.0 0.7615676678371343 12 P02545,P50402,Q08J23,Q8TD16 4 |
| Atlantoaxial abnormality 0.8638363987287417 1.3430288469479332 0.17926263325996 1.0 0.7615676678371343 3 Q9NWM8 1 |
| Hip pain 0.7680633383200937 1.3427807211597338 0.1793429877400614 1.0 0.7615676678371343 5 P02545,O75844,P22626 3 |
| Reduced subcutaneous adipose tissue 0.5876645763551475 1.3423022528810309 0.1794980132600288 1.0 0.7615676678371343 8 P02545 1 |
| Abnormal meningeal morphology 0.434710283762465 1.3402595872051724 0.1801609651813731 1.0 0.7617169860494825 22 Q8TAA9,Q10713,Q9UHX1,O75845,P21964 5 |
| Lactic acidosis 0.3261192731712947 1.3401324246751711 0.1802022961478553 1.0 0.7617169860494825 88 O43676,Q10713,Q86Y39,Q70HW3,Q9NPL8,Q16836,P09622,Q6P4A7,Q9UJS0,Q9Y6M9,Q8NI60,Q9HC21,P03886,Q8IUX1,O43819,Q9NWS8,P00403,O75208,O96000,Q96CU9,Q4J6C6 21 |
| Generalized hyperkeratosis 0.8736413043478313 1.3376271054154725 0.1810180240094534 1.0 0.7617979749232424 4 P02545,P04066,O75844 3 |
| Abnormal choroid plexus morphology 0.6615113570849633 1.3374949229800956 0.1810611384060523 1.0 0.7617979749232424 6 P53634 1 |
| Urinary bladder sphincter dysfunction 0.5858307253277213 1.3328699092348226 0.182574498862126 1.0 0.7652159600821932 8 Q12768,O75298,P09651,P22626,Q06787 5 |
| Abnormality of the posterior pituitary 0.6066525282456897 1.331560692389898 0.1830045887842115 1.0 0.7652159600821932 7 Q9UHX1,Q9UMX1,O76024 3 |
| Dystrophic toenail 0.7653643830212811 1.331332532683697 0.1830796181407565 1.0 0.7652159600821932 5 P02545 1 |
| Progressive sensorineural hearing impairment 0.5126587381705666 1.331126406479461 0.1831474214716189 1.0 0.7652159600821932 13 O60220,P00403,P03886,O76024 4 |
| Psychosis 0.416772387944927 1.3284056833788107 0.184044122932363 1.0 0.7652159600821932 28 P36551,Q5JRX3,O76024,Q96RL7,P00403,O15118,Q9UJS0,Q6DKK2,P03886,Q8WVX9 10 |
| Upper airway obstruction 0.8712635869565268 1.328287124770879 0.1840832715057931 1.0 0.7652159600821932 4 P02545,O75844,P16435 3 |
| Congestive heart failure 0.3605319975347011 1.3281002508972135 0.1841449905986201 1.0 0.7652159600821932 61 P09493,Q02978,P22626,O75880,Q70HW3,P35250,P03886,Q9BUB7,Q01082,P16278,P06280,P09651,Q13043,Q9H2M9,P10253,O43819,P21912,P07437,P02545,P00403,Q9H845,Q9Y4P3,O75533 23 |
| Lissencephaly 0.3626061039086468 1.328075610254369 0.1841531298409799 1.0 0.7652159600821932 51 Q9Y487,Q9NWS8,Q15058,Q9BSJ2,O43175,Q16625,O43505,P20700,Q9Y320,Q15392,P23786,Q9H2M9,Q86XL3,Q9HC21,Q9BVA1,Q9H936 16 |
| Abnormality of the intrahepatic bile duct 0.8602171854416483 1.3280522940191255 0.1841608318532337 1.0 0.7652159600821932 3 P02545 1 |
| Upper limb spasticity 0.6059243786454966 1.3279690560568638 0.1841883296529738 1.0 0.7652159600821932 7 Q99720 1 |
| Arthralgia 0.4006856432098599 1.327603897087475 0.1843089964470754 1.0 0.7652159600821932 34 Q03252,Q96HY6,Q13510,P35250,P25054,P02545,O95140,P06280,O15460,P28070,Q9Y4P3,Q15800,P35670,Q9NZ08,P01889 15 |
| Lower limb pain 0.7644320279428163 1.3273773047613098 0.1843839033077501 1.0 0.7652159600821932 5 P00846,Q8WVX9 2 |
| Poor motor coordination 0.5007803398281899 1.325851309140143 0.1848889537468734 1.0 0.7652159600821932 14 Q10713,O95140,Q96RL7,O00330,P35670,O75503 6 |
| Sea blue histiocytosis 0.8593629285739809 1.324517985340118 0.1853310739200548 1.0 0.7652159600821932 3 O15118 1 |
| Aplasia hypoplasia involving bones of the thorax 0.4024675149520736 1.3241654762059356 0.1854480938984595 1.0 0.7652159600821932 33 Q96HY6,Q8TAA9,Q12768,P02545,P48651,Q9Y619,O75844,Q14739,Q9UHX1,Q9UMX1,P16435,O75431,Q04656,Q03164 14 |
| Decreased ldl cholesterol concentration 0.87002808454235 1.323434071950775 0.1856910673213967 1.0 0.7652159600821932 4 P37268 1 |
| Tapered finger 0.4084715141680386 1.322924472929645 0.1858604958445153 1.0 0.7652159600821932 31 P42892,Q8NCH0,Q03164 3 |
| Abnormally lax or hyperextensible skin 0.3867198231630425 1.321670150866577 0.1862780123688348 1.0 0.7653230453923918 39 Q9Y487,P07437,Q9NWM8,P51812,Q04656,Q9NX14,P48651,Q15904,Q9UQ13,Q9UHX1,P04062,O96000,Q9Y4P3,P35250,Q6NUK1,Q8NCH0 16 |
| Subcutaneous nodule 0.4527066268084884 1.3188965962832258 0.1872036842315243 1.0 0.7663099658291225 18 Q13510,P25054,P06280,P48735,P35637,O75874,Q9NZ08,P01889,P21912 9 |
| Macroglossia 0.4132878091210908 1.3185924942071587 0.1873053843516243 1.0 0.7663099658291225 29 P61978,P07686,Q10713,P16278,Q7LGA3,P04066,Q96A33,P21912,P35250 9 |
| Abnormality of the upper arm 0.4524409856117585 1.3169526004008438 0.1878545132783484 1.0 0.7663099658291225 18 P02545,P50402,O00116,O14979 4 |
| Short clavicles 0.5820538754008344 1.3134295477967808 0.1890382463619571 1.0 0.7689532828014658 8 P02545,O75844 2 |
| Neoplasm of fatty tissue 0.5383958537622621 1.312125678636785 0.1894777331115027 1.0 0.7689532828014658 10 Q9BUK6,O95140,Q8TAA9,P21912 4 |
| Abnormality of the achilles tendon 0.4985093759158551 1.311412423027707 0.1897184639593425 1.0 0.7689532828014658 14 P02545,P50402,Q08J23,Q8TD16 4 |
| Abnormal liver physiology 0.6555088449243287 1.3097680579572948 0.1902743120019481 1.0 0.7699078127665647 6 O75845,Q13510 2 |
| Coxa vara 0.5091040448780828 1.3092477334088093 0.19045044791664 1.0 0.769934906880082 13 Q9Y487,O95831,O75718 3 |
| Transient ischemic attack 0.5807715352688335 1.30682482098242 0.191272213312279 1.0 0.7711987021215582 8 P02545,O75844 2 |
| Increased ldl cholesterol concentration 0.5608598753188865 1.3048117120092062 0.1919569700534249 1.0 0.7716454807176241 9 P02545,P50402,Q8N511 3 |
| Hyperlipoproteinemia 0.5608598753188865 1.3048117120092062 0.1919569700534249 1.0 0.7716454807176241 9 P02545,P50402,Q8N511 3 |
| Ocular pain 0.8272233536999298 1.3044632308993336 0.1920756883237064 1.0 0.7716454807176241 2 Q15043 1 |
| Developmental stagnation 0.580224046098936 1.3040043336437537 0.1922321047914503 1.0 0.7716454807176241 8 O43175 1 |
| Concentric hypertrophic cardiomyopathy 0.8531000939171858 1.2986158990356036 0.1940757789286431 1.0 0.7776722570121292 3 P03886 1 |
| Spastic paraparesis 0.4593896440010413 1.2955615017749684 0.1951265998004454 1.0 0.7805063992017818 17 Q9Y619,Q9Y4W6,P04062,P21912,Q6DKK2,Q8WVX9 6 |
| Elevated mean arterial pressure 0.8241683638832206 1.2909599433748689 0.1967175677768264 1.0 0.7839117699442675 2 P42892 1 |
| Elevated systolic blood pressure 0.8241683638832206 1.2909599433748689 0.1967175677768264 1.0 0.7839117699442675 2 P42892 1 |
| Elevated diastolic blood pressure 0.8241683638832206 1.2909599433748689 0.1967175677768264 1.0 0.7839117699442675 2 P42892 1 |
| Abnormal oral physiology 0.3592451249655894 1.2884031678612993 0.1976056565867003 1.0 0.7839117699442675 53 Q03252,P51812,Q92804,Q01082,P55795,Q96RL7,P09651,P15586,Q14739,P50995,Q15165,O15460,Q15233,P35637,P35670,Q6UN15,P43243 17 |
| Neck muscle weakness 0.4583502987607475 1.288186751907105 0.1976809625229645 1.0 0.7839117699442675 17 P02545,P07602,Q99720 3 |
| Cerebral palsy 0.5577425096548545 1.2880631184818958 0.1977239924849065 1.0 0.7839117699442675 9 Q01082,P61457,P48735,O75874,P98175 5 |
| Decreased light and dark adapted electroretinogram amplitude 0.8501201780782355 1.2862978428086147 0.1983391350682448 1.0 0.7839117699442675 3 P50897 1 |
| Elbow ankylosis 0.822810590631359 1.2849611600191777 0.1988058568771933 1.0 0.7839117699442675 2 P16435 1 |
| Humeroradial synostosis 0.822810590631359 1.2849611600191777 0.1988058568771933 1.0 0.7839117699442675 2 P16435 1 |
| Abnormal femoral head morphology 0.4942078452935983 1.2840326635146897 0.1991305268274437 1.0 0.7839117699442675 14 O75431,P16278,O95831 3 |
| Micrographia 0.8224711473183929 1.2834617321651869 0.1993303582644201 1.0 0.7839117699442675 2 P04062 1 |
| Caudate atrophy 0.8224711473183908 1.2834617321651778 0.1993303582644232 1.0 0.7839117699442675 2 O60220 1 |
| Loss of subcutaneous adipose tissue in limbs 0.8597146739130492 1.2829309664647022 0.1995162627273026 1.0 0.7839117699442675 4 P02545,O75431,O75844 3 |
| Demyelinating peripheral neuropathy 0.5071960521135541 1.2827834765413155 0.1995679446043805 1.0 0.7839117699442675 12 P00846 1 |
| Wide cranial sutures 0.5966166201014514 1.2820083091673928 0.1998397314281508 1.0 0.7839117699442675 7 P02545,O75844 2 |
| Thoracic kyphoscoliosis 0.7533617034059445 1.2804023522278067 0.2004036671341369 1.0 0.7839117699442675 5 P02545 1 |
| Headache 0.3560286632028851 1.2796116680149308 0.2006817442175925 1.0 0.7839117699442675 62 Q02978,P25054,P00846,O60313,P23786,Q8NFH4,P00558,O15460,P04062,P03886,O00429,Q9NQZ5,Q8N1F7,Q8TAA9,Q9UMX1,Q9NZ08,P01889,P00403,P21912 19 |
| Multiple prenatal fractures 0.5960426846877827 1.2791714645083525 0.200836682118529 1.0 0.7839117699442675 7 Q14739,O75718 2 |
| Maturity onset diabetes of the young 0.821452817379489 1.2789641063454888 0.2009096959577911 1.0 0.7839117699442675 2 P61457 1 |
| Arachnodactyly 0.4062275915123175 1.278761939438562 0.2009809005248837 1.0 0.7839117699442675 30 O95202,Q5H8A4,P16435,P21964,P53634,Q8NCH0 6 |
| Status epilepticus 0.3724812953413929 1.2780102221929583 0.2012458219906681 1.0 0.7842718826120033 42 Q9NZJ7,Q9Y487,Q03252,Q01105,Q13510,P05023,P07602,Q15392,Q9UBB4,P42892,P53701 11 |
| Hyporeflexia 0.3188473610941735 1.2759972553362633 0.2019564893279846 1.0 0.7852668340549873 107 Q9NZJ7,O95831,Q10713,O43505,Q96RL7,P00846,Q5H8A4,Q9BUK6,Q15067,P05023,Q9UBB4,P04062,P35610,P03886,Q9HC21,Q99720,P54802,O95140,P50570,O15269,Q6PI48,Q9NWS8,Q9H0B6,P02545,P07602,Q96BR5,Q8TD16,O14979,P35914,P35637 30 |
| Hypokinesia 0.5319949779530628 1.2758861247387367 0.2019957766202083 1.0 0.7852668340549873 10 P04062,O95831 2 |
| Thin clavicles 0.84757509826882 1.275781016315057 0.2020329400579541 1.0 0.7852668340549873 3 P02545 1 |
| Hand polydactyly 0.4057290982029829 1.2743574288822672 0.2025367722522564 1.0 0.7859326158106347 30 Q10713,O43924,Q14739,Q9UHX1,Q5H8A4,O75845,P21964,Q15067 8 |
| Vertebral compression fracture 0.4925150684596278 1.273247530369029 0.2029302191701349 1.0 0.7866282890268621 14 Q32P28,Q14108,P04062,O75718 4 |
| Abnormality of ocular smooth pursuit 0.4417129044484308 1.2728753539821869 0.2030622761946543 1.0 0.7866282890268621 19 P46977,O14773,Q10713,Q9NW15 4 |
| Decreased plasma carnitine 0.5121784269319127 1.2723432179229734 0.2032511994099743 1.0 0.7866894805101564 11 Q16836,O43772,P09622,O75880,P35914,P23786 6 |
| Lack of skin elasticity 0.5026153634600292 1.2692458182760016 0.2043534041417372 1.0 0.7896104323299777 13 P02545,O75844 2 |
| Abnormality of circulating leptin level 0.8557690909534879 1.267441541352129 0.2049974539590398 1.0 0.7906547354791797 4 P02545,O75844 2 |
| Abnormal response to endocrine stimulation test 0.845338113696557 1.2665404094002146 0.2053196716253151 1.0 0.7906547354791797 3 Q13423 1 |
| Absence of pubertal development 0.8551123451399533 1.264863730401803 0.2059201809576327 1.0 0.7911715494261553 4 P02545 1 |
| Peripheral neuropathy 0.3429099413924683 1.2639459347363229 0.206249433037398 1.0 0.7911715494261553 155 Q9NZJ7,O95831,Q7KZN9,Q10713,Q96RL7,O95470,O00330,P00846,P22626,O60313,Q03001,Q15067,Q9NPL8,Q16836,Q9Y2R0,P05023,O15460,P04066,P35670,Q9HC21,P03886,O00429,Q9P0J0,O76024,Q01082,P54802,O95140,P09651,P50570,O15269,Q8IV08,Q9H2M9,O43819,P16930,Q6PI48,P01889,Q9NWS8,Q9H0B6,P36551,O60220,P07602,Q96BR5,P00403,Q5THJ4,Q9Y4W6,Q5KU26,Q96CU9 47 |
| Diffuse cerebral atrophy 0.4779166296269936 1.2639340452001802 0.206253700823416 1.0 0.7911715494261553 15 Q9NZJ7,P07602,Q10713,P16278,Q9H936 5 |
| Diarrhea 0.3494579991913342 1.2622872824091431 0.206845431228926 1.0 0.792500539210995 69 P50416,P36551,Q13510,P07686,P00813,P54802,Q13423,P00403,P15586,Q15904,Q14566,Q9BT22,P35610,Q9UJS0,P42892,Q08J23,P03886 17 |
| Angiokeratoma 0.8441426146010123 1.2616032687851506 0.2070915793702403 1.0 0.7927751783137088 3 P16278,P04066 2 |
| Slowly progressive 0.3567218624115423 1.259495668663349 0.2078513537123709 1.0 0.7930113780596252 52 O14773,P50402,O95831,P02545,Q99720,O14979,Q8IV08 7 |
| Abnormal iliac wing morphology 0.5522240687631035 1.2583827457474928 0.2082533688745251 1.0 0.7932131669453834 9 P51812,P16278,Q8TAA9,O95831 4 |
| Deep plantar creases 0.7471305719531461 1.253956792711969 0.2098577105558794 1.0 0.7986544696531961 5 Q9Y487 1 |
| Memory impairment 0.3927091392721382 1.2531051105578856 0.2101674564112658 1.0 0.7987721281575331 34 Q9NZJ7,P07602,P00403,Q9Y4W6,Q9NR50,P31483,Q9UMX1,O43681,Q9UJS0,Q9NZ08,P03886,P01889,Q8WVX9 13 |
| Chorea 0.3406805349195914 1.2521690012862596 0.2105082888873379 1.0 0.7987721281575331 76 Q01105,P17900,Q96N66,Q9P0J0,Q99720,P07602,P00846,P35637,O43819,Q08J23,P03886 11 |
| Developmental cataract 0.3556143086148223 1.25205249308172 0.2105507368824324 1.0 0.7987721281575331 49 O00400,O76024,P62847,O43175,P02545,Q9H2M9,P00403,Q5SRE5,Q9NVI7,P21912,Q15800,P03886,Q8WVX9 13 |
| Mottled pigmentation 0.8418020291753874 1.251939880466637 0.2105917714640679 1.0 0.7987721281575331 3 P02545 1 |
| Visual field defect 0.373312177552732 1.2508787646618171 0.2109787124952176 1.0 0.7992572817465577 41 O00429,P04439,O60220,O95140,P00403,O75381,P00846,O60313,O15460,P03886,Q9UMX1,P40855,Q9BVA1,Q9H061,P01889,Q969G3 16 |
| Disproportionate tall stature 0.4158070270046895 1.2506246161855243 0.2110714652499712 1.0 0.7992572817465577 25 Q9NWM8,O95202,Q5H8A4,P16435,Q8NCH0 5 |
| Abnormal male reproductive system physiology 0.3942124142116237 1.2480010071017202 0.2120306883819007 1.0 0.8017501598451731 33 O43464,O76024,P07686,O75298,Q9Y4P3,P51809,Q13423,P04062,Q9UMX1,P16435,P35250,P20700,Q15056,Q969G3 14 |
| Widened cerebral subarachnoid space 0.8399232292196931 1.244185749816363 0.2134312071709756 1.0 0.8044092468884587 3 P03886 1 |
| Abnormality of epiphysis morphology 0.3548830685446696 1.2437275366885916 0.2135998577521185 1.0 0.8044092468884587 49 Q96HY6,O95831,Q9Y619,P16278,O95202,Q14739,Q9HC07,Q7LGA3,P16435,P40855,O00116 11 |
| Telangiectasia of the skin 0.4519841316539117 1.24295692633253 0.2138837065173673 1.0 0.8044092468884587 17 P02545,Q14739,Q8IZA0,P06280 4 |
| Abnormality of central nervous system electrophysiology 0.3325257692480014 1.2393049853119442 0.215232573186622 1.0 0.8060641561918406 137 Q9NZJ7,Q9BQE5,O43175,P00367,O75381,O60313,Q5H8A4,Q2TAA5,Q08J23,Q15067,P50897,Q14108,Q5SRE5,P13073,O95202,Q9UBB4,P21964,P40855,P03886,Q9NQZ5,P20700,O75503,Q9H936,Q96N66,O43292,O60220,P07602,P00403,Q9Y4W6,Q96A33,Q9UBX3 31 |
| Abnormal blood glucose concentration 0.317384914776989 1.2388940101261174 0.2153847522241332 1.0 0.8060641561918406 89 P50416,O43676,O95470,P00367,O00330,Q5XKP0,Q86Y39,O75880,P23786,Q9NPL8,Q16836,O43772,P09622,P31751,Q9Y6M9,P35610,P03886,Q13423,Q8IUX1,P16930,P02545,P53985,O75844,P35914,O96000,Q96CU9,Q4J6C6 27 |
| Short palpebral fissure 0.4170440202707043 1.2384937669445952 0.215533031825865 1.0 0.8060641561918406 24 P02545,Q9Y619,O75844,Q9UHX1,Q03164 5 |
| Vascular neoplasm 0.3863386004281514 1.2363413112818762 0.2163317213621447 1.0 0.8060641561918406 36 Q96T58,Q12768,Q02978,P10619,Q9UQ13,P48735,O95202,P50570,Q9UHX1,Q5H8A4,Q7LGA3,Q9UMX1,P16435,O75874,P21912 15 |
| Abnormality of malar bones 0.3543238332158717 1.236112166888536 0.2164168729212248 1.0 0.8060641561918406 57 Q9Y487,O95831,P02545,Q14739,Q9HC07,P21964,P16435 7 |
| Increased intramyocellular lipid droplets 0.5866759837944627 1.2328342407125288 0.2176376136088009 1.0 0.8086224989684314 7 Q9BUK6,Q8NI60 2 |
| Episodic pain 0.5053425059325655 1.2317668063670737 0.2180362061208365 1.0 0.8094416018080729 11 P07686,Q13423,P23786 3 |
| Unexplained fevers 0.7413906662005949 1.229597455925874 0.2188478831877136 1.0 0.8105578949543326 5 P07602,Q9HC07 2 |
| Generalized amyotrophy 0.4132408896215548 1.2294210706532789 0.2189139742012562 1.0 0.8105578949543326 25 Q03252,P02545,P09651,P22626,P35637,O43819 6 |
| Hyperconvex nail 0.5654735212132664 1.2278870851249746 0.2194893583046506 1.0 0.8115212726902625 8 O95202,P42892,P48651,Q9Y619 4 |
| Hypoplasia of the odontoid process 0.5853079336077168 1.226060886668009 0.2201757633343515 1.0 0.8127019168244717 7 O95831 1 |
| Tube feeding 0.3537110816918424 1.2250677998803672 0.2205496761839869 1.0 0.8127019168244717 55 Q9H490,Q01105,Q96N66,Q99720,P07602,P37268,Q9UHX1,P35637,Q08J23 9 |
| Abnormality of primary teeth 0.4849156224890814 1.2247633744696005 0.2206643883001597 1.0 0.8127019168244717 14 P02545,P53634,O75844 3 |
| Slow saccadic eye movements 0.522466700264459 1.2218284434502853 0.2217725099064948 1.0 0.8158230589466994 10 Q8IV08,Q96RL7,Q9Y4W6,P04062 4 |
| Eeg with spike wave complexes 0.494750726101238 1.2206609023021036 0.2222144368726011 1.0 0.8158230589466994 13 Q14108,O75503 2 |
| Fasting hyperinsulinemia 0.8437879142769414 1.2204380704177775 0.2222988527689509 1.0 0.8158230589466994 4 P02545,P00367 2 |
| Abnormality of the wrist 0.4059811643302364 1.2185100230946695 0.2230302182197352 1.0 0.8158230589466994 27 O95831,Q13510,P02545,P16278,O75844 5 |
| Dysmetric saccades 0.58359421292103 1.217574341552025 0.2233857698503185 1.0 0.8158230589466994 7 O14773,Q9NW15,Q9Y4W6 3 |
| Abnormality of the shoulder girdle musculature 0.3993081225059747 1.217545160021266 0.2233968651190263 1.0 0.8158230589466994 30 Q9NZJ7,P50402,Q9Y487,P02545,P07602,Q8TD16,O14979 7 |
| Centrocecal scotoma 0.842882553923217 1.2168886909866248 0.2236465689799529 1.0 0.8158230589466994 4 P00846,P03886 2 |
| Gliosis 0.3790441197586651 1.2162616730702511 0.2238852567230449 1.0 0.8158230589466994 38 Q7KZN9,Q10713,P00846,P04062,P35637,O43819 6 |
| Abnormality of skeletal muscle fiber size 0.4386979036850634 1.2161189580466354 0.2239396096793537 1.0 0.8158230589466994 18 O95831,P02545,P22626,O60313,Q9BUK6 5 |
| Absent nipple 0.8071961982348882 1.216114601974604 0.2239412688359141 1.0 0.8158230589466994 2 P10586 1 |
| Abnormal adipose tissue morphology 0.352829621292717 1.2144931366171885 0.2245594691348353 1.0 0.8158230589466994 52 P09493,O75431,Q9Y487,Q03252,P50402,Q8TAA9,P02545,O43175,P31751,P42166,O75844,Q6NUK1,P04066,P42167,P21912,Q9BUK6,Q2TAA5 17 |
| Impaired visuospatial constructive cognition 0.5828540276407224 1.213908287916721 0.2247827476973976 1.0 0.8158230589466994 7 P00403,P03886 2 |
| Bulbous nose 0.3729106826072547 1.2137402787080271 0.2248469181422463 1.0 0.8158230589466994 40 O75845,Q02252,P38159,Q9BSJ2,Q96T58,Q01082,Q96EK5,Q96DF8,Q96A33,P23786,O75431,P21964,P42892,P16435 14 |
| Abnormality of endocrine pancreas physiology 0.7373813177229297 1.2125850488903902 0.2252885079562765 1.0 0.8158230589466994 5 Q14739,P16930,P53985 3 |
| Sclerocornea 0.543181477988778 1.2096713249685438 0.2264050372523967 1.0 0.8158230589466994 9 O95202,Q6NUK1,Q5H8A4,P53701 4 |
| Decreased adipose tissue 0.4951392727474999 1.2095707959565725 0.2264436299645669 1.0 0.8158230589466994 12 Q03252,O75431,P02545,O75844 4 |
| Recurrent paroxysmal headache 0.5197505400208162 1.2063973300760895 0.2276643250273746 1.0 0.8158230589466994 10 P00403,P03886 2 |
| Abnormal circulating acetylcarnitine concentration 0.5813146894200933 1.2062830802973814 0.22770835926218 1.0 0.8158230589466994 7 Q16836,O43772,P23786 3 |
| Tritanomaly 0.804820095044124 1.2056638700669162 0.2279471213212791 1.0 0.8158230589466994 2 O60313 1 |
| Anomalous trichromacy 0.804820095044124 1.2056638700669162 0.2279471213212791 1.0 0.8158230589466994 2 O60313 1 |
| Temporal optic disc pallor 0.804820095044124 1.2056638700669162 0.2279471213212791 1.0 0.8158230589466994 2 O60313 1 |
| Morning glory anomaly 0.804820095044124 1.2056638700669162 0.2279471213212791 1.0 0.8158230589466994 2 O60313 1 |
| Thick hair 0.5809227317863844 1.2043412781758145 0.2284576984560347 1.0 0.8158230589466994 7 Q9Y487,Q04656,Q9BUK6 3 |
| Aplasia hypoplasia involving the femoral head and neck 0.6326662465766207 1.2040726917841544 0.2285614837242773 1.0 0.8158230589466994 6 O75431,O95831 2 |
| Abnormal muscle fiber protein expression 0.5808478110022759 1.2039701025454448 0.2286011343974774 1.0 0.8158230589466994 7 P02545 1 |
| Thickened skin 0.3062584444433475 1.202182047922768 0.2292930030924169 1.0 0.8171822792564256 93 P50402,Q9NWM8,O75431,P02545,O43175,P31751,P00813,P16278,O95470,O75844,Q14739,P04062,P42167,P51648,P04066,Q15800,P53634,P16615 18 |
| Subependymal cysts 0.8038017651052272 1.2011873639698698 0.2296785298693398 1.0 0.8179147646757681 2 O00330 1 |
| Duplication involving bones of the feet 0.4320177476352735 1.2003153986048132 0.2300168716011785 1.0 0.8184782024712258 19 Q10713,O43924,Q14739,O75845,P21964 5 |
| Desquamation of skin soon after birth 0.8291452900417577 1.1997568070051494 0.2302338036020212 1.0 0.8186090794738534 3 P00813 1 |
| Meningioma 0.6313852978761396 1.1981403183573756 0.230862395000988 1.0 0.8186134675363946 6 P02545,Q9UMX1,P21912 3 |
| Emg chronic denervation signs 0.4679674218373388 1.197965507720616 0.2309304452622997 1.0 0.8186134675363946 15 Q9NZJ7,Q13510,P07602,O95140,P09651,P22626,O60313,O43819 8 |
| Abnormal sharpey fiber morphology 0.5795314927572224 1.1974482535502833 0.2311318853781367 1.0 0.8186134675363946 7 P02545,P35670,P01889 3 |
| Late onset 0.4995639236676197 1.197414118644648 0.2311451833084965 1.0 0.8186134675363946 11 O76024,P31751,O00330,P31483,P43304 5 |
| Infantile muscular hypotonia 0.3486440282235752 1.1955572345896877 0.2318693885571612 1.0 0.8186134675363946 63 Q9NZJ7,Q9Y487,P17900,Q13510,O43819,Q15043,P07602,P16278,P10253,P00846,Q2TAA5,P03886 12 |
| Emphysema 0.558941769222783 1.1941155258766267 0.2324327807465676 1.0 0.8187917653886614 8 P02545,Q03519,O15533,P06280 4 |
| Abnormal lung lobation 0.4990031117586312 1.1940779281294651 0.2324474862128902 1.0 0.8187917653886614 11 Q14739,P21964 2 |
| Confusion 0.479875080497577 1.1925518281633098 0.2330449413565516 1.0 0.8189916577913152 14 Q9UJS0,Q9NZ08,P36551,Q9Y619 4 |
| J shaped sella turcica 0.8010862186014864 1.189257271350224 0.2343384438744857 1.0 0.8217996920316705 2 O75431 1 |
| Abnormal atrioventricular conduction 0.4891339970763032 1.1859052847210847 0.2356597059362091 1.0 0.825114108878391 13 P02545,P50402,O43772,P21912 4 |
| Bradycardia 0.4910256081373405 1.184541887601822 0.2361986252966406 1.0 0.8252017636554088 12 O43772,P02545,O75208,O75880,Q03001 5 |
| Myopathy 0.3074517082336597 1.1841442849375388 0.2363559524714016 1.0 0.8252017636554088 97 P09493,O43676,Q96RL7,P22626,P00846,Q86Y39,O60313,P23786,Q9BUK6,Q03252,Q9NWM8,P00558,P35250,Q8NCH0,P03886,O00429,P50402,O76024,P42166,P09651,P50570,Q07021,Q9UMX1,Q9NWS8,P02545,P00403,O14979,Q9H845,P31483,P42167,P21912 31 |
| Chronic pulmonary obstruction 0.7306226582304072 1.1839156459708182 0.2364464560473904 1.0 0.8252017636554088 5 P09601 1 |
| Dysarthria 0.3354369511921299 1.1830775439509118 0.2367784166845594 1.0 0.8257261131347952 150 Q9NZJ7,Q7KZN9,P04350,Q10713,Q96RL7,Q5XKP0,P00846,Q96D71,Q86U42,O75027,Q08J23,O14773,Q14108,P15586,Q9UBB4,P04062,P51648,P35250,P35670,P43243,Q6DKK2,Q9P0J0,O76024,P07686,O15118,Q15233,Q8IV08,P35637,Q9UMX1,Q9H2M9,O43819,P20700,Q6PI48,O75503,Q9H0B6,O43292,O60220,P07602,Q96BR5,Q5THJ4,Q9Y4W6,Q9NR50,P35914,Q9Y4P3,Q5T8D3,Q96CU9,Q9NW15,Q8WVX9 48 |
| Hemiplegia hemiparesis 0.3899146705545275 1.1810208147164305 0.2375944546138928 1.0 0.826587578989065 32 O00429,P50416,P00403,O60313,Q9NZ08,P35914,Q9UMX1,Q9BVA1,P03886,P01889,Q969G3 11 |
| Hypermethioninemia 0.7299164162110523 1.1809206945286668 0.2376342294330604 1.0 0.826587578989065 5 P55263,P16930 2 |
| Absent brainstem auditory responses 0.824492625883078 1.1806098751159622 0.2377577388491749 1.0 0.826587578989065 3 O60220 1 |
| Abnormal lower motor neuron morphology 0.5150596262675641 1.1797283251968838 0.2381082844280211 1.0 0.826587578989065 10 Q99720,Q13510,P35637 3 |
| Gingival bleeding 0.4962182530375872 1.1775058465829713 0.2389936653340223 1.0 0.8275416560828882 11 P49257,Q14108,P04062 3 |
| Myoclonic spasms 0.7281210191808789 1.1733078350715356 0.240672381426104 1.0 0.8279951999742307 5 P00846,Q10713,Q9UMX1 3 |
| Maternal diabetes 0.7973523421588532 1.172871453544986 0.2408473586672983 1.0 0.8279951999742307 2 Q8TAA9 1 |
| Abnormality of the antitragus 0.7966734555329265 1.1698945600198982 0.242043403363251 1.0 0.8283366296528335 2 Q92643 1 |
| Prominent antitragus 0.7966734555329265 1.1698945600198982 0.242043403363251 1.0 0.8283366296528335 2 Q92643 1 |
| Asymmetry of the ears 0.7966734555329185 1.169894560019863 0.2420434033632652 1.0 0.8283366296528335 2 Q9UHX1 1 |
| Foot acroosteolysis 0.8307428667441368 1.1693402090393077 0.242266589086403 1.0 0.8283366296528335 4 P02545,O75844 2 |
| Osteolysis involving bones of the feet 0.8307428667441368 1.1693402090393077 0.242266589086403 1.0 0.8283366296528335 4 P02545,O75844 2 |
| Abnormality of the musculature of the lower limbs 0.4029242864158823 1.167060885111949 0.2431857825560257 1.0 0.830612050115601 26 P50402,Q12768,P02545,Q96RL7,O14979,P00846,P50570,P43243,Q9NW15 9 |
| Abnormal waist to hip ratio 0.5536554530521842 1.1667613703977922 0.2433067512039657 1.0 0.830612050115601 8 P31751,O00330,P43304,O76024 4 |
| Vacuolated lymphocytes 0.8207596341711988 1.1652638421011428 0.243912210421725 1.0 0.830612050115601 3 P16278 1 |
| Lipid accumulation in hepatocytes 0.3417747549919884 1.1634031956760844 0.2446659535820017 1.0 0.830612050115601 69 P55263,P50416,Q7KZN9,P22626,Q5XKP0,P23786,O75431,Q15067,Q03252,Q16836,O43772,P31751,Q8N511,Q9UJS0,P35670,P09651,Q9NWS8,P02545,Q15904,P35914 20 |
| Glossitis 0.7946367956551257 1.160968379710586 0.2456547587223165 1.0 0.830612050115601 2 O15460 1 |
| Gastrointestinal infarctions 0.7946367956551257 1.160968379710586 0.2456547587223165 1.0 0.830612050115601 2 O15460 1 |
| Recurrent pharyngitis 0.7946367956551257 1.160968379710586 0.2456547587223165 1.0 0.830612050115601 2 O15460 1 |
| Redundant skin 0.4098864373356993 1.1606663103332844 0.2457776274967806 1.0 0.830612050115601 23 Q9Y487,Q04656,P51812,Q9NX14,P48651,O96000,Q9Y4P3,P35250,Q6NUK1,Q8NCH0 10 |
| Agitation 0.3903789263159288 1.1605620047850342 0.2458200644954495 1.0 0.830612050115601 31 O43464,Q92804,P42892,P09651,P50995,Q15165,P04062,P35637,P43243,P35610 10 |
| Proximal muscle weakness 0.3462968928931882 1.1602994280826078 0.2459269172930152 1.0 0.830612050115601 62 P50402,P36551,Q13510,P02545,Q99720,Q9BQT8,Q8TD16,P09651,P22626,P00846,O60313,P35637,P21912,Q9BUK6,P35670,Q8NI60,Q5T8D3 17 |
| Abnormal lung development 0.3577820906967483 1.1599155418499765 0.2460831943128554 1.0 0.830612050115601 43 P02545,O43175,O75844,O95202,Q14739,Q9UHX1,Q5H8A4,O96000,P21964 9 |
| Lagopthalmos 0.8191251420866297 1.1585494378399073 0.2466398889548933 1.0 0.830612050115601 3 P02545 1 |
| Spastic gait 0.4046468953072891 1.1582764364734763 0.2467512441649304 1.0 0.830612050115601 25 O00400,Q12768,P25054,O75298,Q15043,Q9Y619,Q9NVI7,P10809,Q8N0X7,P49902,P20700,Q8WVX9 12 |
| Abnormal auditory evoked potentials 0.5517244795418234 1.1567655625288051 0.2473681551736168 1.0 0.8309874064128613 8 Q9NZJ7,O60220,P07602,P20700 4 |
| Male sexual dysfunction 0.5109160394977941 1.1561537028234452 0.2476182930392108 1.0 0.8309874064128613 10 O43464,P07686,O75298,Q9UMX1,P20700,Q969G3 6 |
| Papillary renal cell carcinoma 0.6220182134848756 1.1547548560081042 0.2481908286018292 1.0 0.8316955200344485 6 P02545 1 |
| Abnormal circulating copper concentration 0.621405864980846 1.151918668130174 0.2493544962333851 1.0 0.8331373756503692 6 Q9Y487,O43819,Q15904 3 |
| Dyskinesia 0.3466949203269015 1.151008521076648 0.2497287299965984 1.0 0.8337746870716704 59 Q01105,Q96N66,Q9P0J0,Q15043,Q96RL7,P00846,Q9UBB4,P04062,P35610,O43819,Q9UBX3,Q08J23,P03886,Q9H936 14 |
| Optic nerve hypoplasia 0.4389333695572009 1.1499706366901556 0.2501559654194272 1.0 0.8339755736360068 17 P61978,Q15058,Q9NVI7,P37268,Q9UHX1 5 |
| Agenesis of cerebellar vermis 0.8167917228937249 1.1489692782845744 0.250568648868509 1.0 0.8341863647021891 3 O43924 1 |
| Neoplasm of the small intestine 0.7223686993783703 1.148926345863955 0.2505863529530123 1.0 0.8341863647021891 5 P02545,P21912 2 |
| Delayed puberty 0.3468699041438974 1.1470975117054292 0.2513413221640397 1.0 0.8343743398722445 51 O00429,Q14108,O76024,Q01082,P02545,Q9H2M9,P06280,Q9NVI7,O75844,P04062,Q15233,P16435,Q9UJS0,Q15800 14 |
| Decreased number of peripheral myelinated nerve fibers 0.4828675936358899 1.147083638507149 0.251347055279258 1.0 0.8343743398722445 13 P02545,O95140,Q96RL7,P50570,O15269 5 |
| X linked recessive inheritance 0.3460649456450086 1.1467695146754215 0.251476891736768 1.0 0.8343743398722445 48 P50402,P38159,O95831,P11413,P00558,O60220,P78318,P06280,Q15904,P51571,P51572,Q15233,O75027,Q04656,O15344 15 |
| Turricephaly 0.5497545452215856 1.1465662652261193 0.2515609255336652 1.0 0.8343743398722445 8 P21964,P16435 2 |
| Acute hepatic failure 0.4824438766806874 1.1444571481572852 0.2524340995420024 1.0 0.8348330045988785 13 Q16836,Q13043,P35670,P16930,P01889 5 |
| Constitutional symptom 0.3611357265516434 1.1423107061043558 0.2533248926470459 1.0 0.8349213474546348 216 P00846,Q70HW3,P51812,Q14108,P00558,Q14566,P50995,O15460,Q15165,Q15800,P21964,P42892,P43243,O00429,Q12768,O75298,Q01082,Q99720,O95140,Q13423,P50570,O15269,Q9UMX1,P01889,P02545,P07602,Q3ZCQ8,O75844,Q9H845,P35637,Q9Y4P3,Q04656,Q13510,Q02978,P25054,Q14739,O43681,O75874,P23786,Q10471,P50402,Q8IUX1,Q9NZ08,Q01844,P50416,P22626,P48735,Q8NFH4,Q92804,Q9UBB4,P04062,Q9UJS0,P35610,Q8TAA9,P07686,P20700,P36551,P21912,Q96HY6,Q4J6C6,Q9NZJ7,P11413,Q15043,O60313,Q9BUK6,Q03252,P35250,P35670,Q8N1F7,P06280,P09651,Q07021,Q13043,P35914,Q6UN15,O75533,Q8WVX9 77 |
| Cerebral dysmyelination 0.6192283683952221 1.1418335924422722 0.253523196209624 1.0 0.8349213474546348 6 O43175,P07602 2 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3269756929168647 1.1415192788561488 0.2536538939427299 1.0 0.8349213474546348 80 O95831,Q13510,P02545,Q9Y619,P00813,P13073,O95202,Q9UHX1,Q5H8A4,Q7LGA3,Q96A33,O75431,O00116,Q08J23,Q03164 15 |
| Generalized clonic seizure 0.7204241979791979 1.140688285323607 0.2539996632281089 1.0 0.8349213474546348 5 Q9NZJ7,P07602 2 |
| Abnormality of pancreas physiology 0.3656082486167053 1.1393114499561274 0.2545732743935525 1.0 0.8357506972539724 40 P09601,P02545,P00403,Q15904,P53985,Q14739,Q9UHX1,P35914,Q13043,Q9UJS0,P16930,Q9NZ08,P03886 13 |
| Purpura 0.4373491905042648 1.1386642519717567 0.2548432183156732 1.0 0.8357506972539724 17 P21964,P04062,Q8NCH0 3 |
| Abnormality of blood circulation 0.3428638893132372 1.1384834239723791 0.2549186765831879 1.0 0.8357506972539724 65 Q02978,P25054,O00330,Q14739,Q9UHX1,P23786,Q9Y487,P04062,Q9UJS0,P21964,P49257,O76024,P50570,Q9UMX1,P16930,Q9NZ08,P01889,P02545,O75844,Q9H845,P21912,Q6UN15,Q04656,O75533 24 |
| Intellectual disability progressive 0.5077329820951946 1.138034711334291 0.2551059883584408 1.0 0.8357617960351514 10 Q15067,O95831 2 |
| Abnormal endocrine physiology 0.8221750885319195 1.135842531491366 0.2560224733408613 1.0 0.8365735320937858 4 Q13423 1 |
| Barrel shaped chest 0.8218363490572068 1.1345193718901707 0.2565767525594948 1.0 0.8365735320937858 4 Q14739,P04066 2 |
| Nonimmune hydrops fetalis 0.4016634457884076 1.133537314061416 0.2569886806155539 1.0 0.8365735320937858 25 P10619,P62847,Q14739,Q9BT22,O96000 5 |
| Short chin 0.5659421812464489 1.1300782153783198 0.2584432682362116 1.0 0.8365735320937858 7 P02545,O75844 2 |
| Abnormal elasticity of skin 0.3454314515836422 1.128564002497219 0.2590818033209279 1.0 0.8365735320937858 56 O43175,P48651,Q9UHX1,Q9Y487,Q9NWM8,P51812,Q9NX14,P04062,P35250,Q6NUK1,Q8NCH0,Q9UQ13,Q15056,P07437,Q96T58,P02545,Q15904,O75844,O96000,Q9Y4P3,Q04656 21 |
| Scleroderma 0.7171356349951064 1.1267610566632815 0.2598435198477284 1.0 0.8365735320937858 5 P02545 1 |
| Pseudobulbar signs 0.48617947008222 1.1177056606427536 0.2636927243470985 1.0 0.8413465065335295 11 P20700,P17900 2 |
| Chronic fatigue 0.6138401069013881 1.1168816434004276 0.2640449343358924 1.0 0.8413465065335295 6 P07602,Q13423 2 |
| Arthrogryposis multiplex congenita 0.3715108611525263 1.1164649284969677 0.2642231744039549 1.0 0.8413465065335295 37 Q15058,P02545,O43175,Q8TD16,Q15392,O75844,P04062,Q8NCH0 8 |
| Broad clavicles 0.784453496266122 1.1164465886733208 0.2642310207407137 1.0 0.8413465065335295 2 P48651 1 |
| Femoral hernia 0.784453496266122 1.1164465886733208 0.2642310207407137 1.0 0.8413465065335295 2 P48651 1 |
| Abnormal pelvis bone morphology 0.784453496266115 1.1164465886732902 0.2642310207407268 1.0 0.8413465065335295 2 P16435 1 |
| Abnormal venous morphology 0.4042596576935081 1.1152513503095076 0.2647427266748705 1.0 0.841790465664639 23 Q9Y487,P02545,P48651,P04062,Q13043,Q6NUK1,P98175,Q04656,Q92990,P21964 10 |
| Abnormal spermatogenesis 0.4856560519642654 1.114585613260105 0.2650280382454388 1.0 0.841790465664639 11 Q13423,P16435 2 |
| Angina pectoris 0.8164354987735785 1.1134368993220245 0.2655208347907654 1.0 0.8425465595595236 4 P02545,O75844 2 |
| Epistaxis 0.4773320129738498 1.1127583003015613 0.2658122490795382 1.0 0.842882665608808 13 P49257,O15460,P04062,Q6UN15,P01889 5 |
| Abnormal macrophage morphology 0.7131714756244021 1.109982130169097 0.2670067269637002 1.0 0.844370280539126 5 O15118,Q13510 2 |
| Abnormality of the metacarpal bones 0.373197363651342 1.1097935682949138 0.2670879914685735 1.0 0.844370280539126 36 P51812,Q32P28,P25054,P51798,P48651,O43924,P08236,P16278,O95202,Q14739,Q15233,Q9UMX1,P16435,Q9H2M9,Q6NUK1 15 |
| Knee flexion contracture 0.3985924728529874 1.1080548756820392 0.2678381172860602 1.0 0.844370280539126 25 Q8TD16,P37268,Q7LGA3,P23786,Q86XL3 5 |
| Muscle fibrillation 0.4329345270525413 1.1071404338807338 0.2682332162198051 1.0 0.844370280539126 17 Q9BQT8,O95831 2 |
| Intestinal pseudo obstruction 0.542060649246827 1.106718526494202 0.2684156428450506 1.0 0.844370280539126 8 P00403,P03886 2 |
| External ear malformation 0.5021181056758676 1.1060578252252549 0.2687014916603547 1.0 0.844370280539126 10 P40855,Q8NCH0,O75381 3 |
| Macrovesicular hepatic steatosis 0.7122052589369362 1.1058941912496 0.2687723192961029 1.0 0.844370280539126 5 O75431,P23786 2 |
| Abnormality of the temporomandibular joint 0.8144350974651157 1.1056352708955015 0.2688844170540054 1.0 0.844370280539126 4 P02545,O75844 2 |
| Anarthria 0.6114086963893324 1.1056249173520043 0.2688889002156549 1.0 0.844370280539126 6 Q99720 1 |
| Aspiration pneumonia 0.3956139331874789 1.1055558504715206 0.2689188080037061 1.0 0.844370280539126 26 Q13510,O60220,P16278,P04062,P20700 5 |
| Calvarial skull defect 0.5416397408606226 1.1045381954907492 0.2693597443018545 1.0 0.844370280539126 8 Q14739,Q5H8A4 2 |
| Epiphyseal stippling 0.5236049858749403 1.1039859028282883 0.269599252921155 1.0 0.844370280539126 9 Q14739,P40855,O00116,O75381 4 |
| Abnormal exteroceptive sensation 0.3450193075815047 1.1006104697092045 0.2710662268854162 1.0 0.8459649278621781 45 Q9NZJ7,P61978,O95831,P07686,P07602,P54802,O95140,P06280,O15460,Q9NZ08,O15269,Q8NCH0,Q8WVX9 13 |
| Carcinoid tumor 0.7803801765105097 1.0986935727530882 0.2719017469680518 1.0 0.8470834896377231 2 P02545 1 |
| Abnormal sella turcica morphology 0.609887060186193 1.0985812868058824 0.2719507437814905 1.0 0.8470834896377231 6 O75431,P08236,P16278 3 |
| Upper limb postural tremor 0.7800407331975494 1.0972157054937348 0.2725471091991456 1.0 0.8470958031470025 2 P20700 1 |
| Rimmed vacuoles 0.4646780971315229 1.09524778896879 0.2734080944022863 1.0 0.8485084236782724 14 P50402,P02545,P09651,O14979,P22626,P31483,P43243 7 |
| Motor deterioration 0.7096051040525376 1.0948969059421134 0.2735618047290205 1.0 0.8485084236782724 5 O75503 1 |
| Peroneal muscle atrophy 0.8030560271646748 1.0927195027219083 0.2745169741745277 1.0 0.8490120616611495 3 P02545,Q96RL7 2 |
| Adult onset 0.3402691319876781 1.0919723973510689 0.2748452338696194 1.0 0.8490120616611495 63 Q9NZJ7,O00330,Q86U42,Q969G3,P31751,Q14566,P04062,P43243,P43304,Q9NQZ5,Q9UGP8,Q12768,O76024,O15118,Q07021,Q9UMX1,Q8IV08,P20700,P36551,P02545,P07602,Q9Y6M1,Q5THJ4,O14979,P31483,Q06787,P21912 27 |
| Heparan sulfate excretion in urine 0.8026087567116436 1.0908924205788453 0.2753202226187272 1.0 0.8496049264735891 3 P54802 1 |
| Dystrophic fingernails 0.5577432730364043 1.0894164805333146 0.2759702670303972 1.0 0.8496049264735891 7 P02545 1 |
| Spinal muscular atrophy 0.4735074956279504 1.089030657293703 0.276140366604074 1.0 0.8496049264735891 13 Q99720,Q13510 2 |
| Papule 0.4303630486761701 1.0887692781688247 0.2762556425768849 1.0 0.8496049264735891 17 P02545,Q9NZ08,O75844,P16615 4 |
| Underdeveloped supraorbital ridges 0.4990388643325041 1.0885155044658896 0.2763675957242126 1.0 0.8496049264735891 10 O75381,P16435,Q6NUK1,P40855,Q08J23 5 |
| Hyperextensible skin 0.4514514005314328 1.088140829292097 0.2765329415172619 1.0 0.8496049264735891 15 Q9NWM8,Q9UHX1,Q8NCH0 3 |
| Recurrent pancreatitis 0.8015589297628438 1.0866051480529897 0.2772113489377095 1.0 0.850474456017438 3 P03886 1 |
| Coarse hair 0.4299603141645805 1.085891578646917 0.2775269631452213 1.0 0.850474456017438 17 Q9Y487,P51812,Q9UM00,P54802,P15586,Q96A33,Q6NUK1,Q04656 8 |
| Diaphyseal thickening 0.801358234295412 1.085785748055042 0.2775737932130599 1.0 0.850474456017438 3 Q14739,P48651 2 |
| Decreased circulating iga level 0.5569300478296088 1.0853836269989892 0.2777517809704837 1.0 0.850474456017438 7 P00813 1 |
| Abnormal glial cell morphology 0.341604536465574 1.0831741545237523 0.278731129312779 1.0 0.8526995884310486 56 O95831,Q7KZN9,Q10713,P48735,P00846,P04062,P35637,O43819 8 |
| Abnormal tongue physiology 0.4163050631397869 1.082327716720472 0.2791069343842129 1.0 0.8526995884310486 19 Q9BQT8,O95831 2 |
| Arm dystonia 0.8081613827516616 1.0811946246736497 0.2796105486053142 1.0 0.8526995884310486 4 Q99720 1 |
| Abnormal peripheral myelination 0.3814100682160121 1.079738175026408 0.2802587891551076 1.0 0.8526995884310486 31 Q9NZJ7,Q9H0B6,Q01082,P02545,P07602,Q96RL7,O95140,P00846,P50570,O15269,P20700,P03886 12 |
| Metatarsus adductus 0.4719174819252035 1.0791639564443318 0.280514644308377 1.0 0.8526995884310486 13 Q03252,P08236,Q15392,O95202,Q08J23 5 |
| Limb girdle muscle weakness 0.3975326469021922 1.0790179211385351 0.2805797387024795 1.0 0.8526995884310486 24 Q9NZJ7,P02545,P07602,Q8TD16,O14979 5 |
| Abnormality of retinal pigmentation 0.3342484811599908 1.077447742139709 0.2812802850648568 1.0 0.8526995884310486 70 Q16836,Q9P0J0,Q7KZN9,Q96S66,O76024,P02545,P00403,O75381,P00846,P03886,P51648,P21912,Q9BUK6,P40855,Q13432,Q96CU9,Q15067,P53701 18 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.7992808742452417 1.0773080999123383 0.281342644855568 1.0 0.8526995884310486 3 O75503 1 |
| Visceral angiomatosis 0.7749490835030456 1.0750777472906543 0.2823399213460931 1.0 0.8526995884310486 2 P48735 1 |
| Lymphangioma 0.7749490835030456 1.0750777472906543 0.2823399213460931 1.0 0.8526995884310486 2 P48735 1 |
| Hemangiomatosis 0.7749490835030456 1.0750777472906543 0.2823399213460931 1.0 0.8526995884310486 2 P48735 1 |
| Dysphagia 0.3170948901428186 1.0747965040524194 0.2824658459879077 1.0 0.8526995884310486 127 Q9NZJ7,Q13510,P04350,Q96RL7,P00846,Q14739,P48735,Q96D71,Q9UHX1,Q86U42,O60313,O75874,Q15067,Q03164,Q14108,P15586,Q9UBB4,P04062,P35670,P43243,P03886,O15344,O00429,O76024,Q99720,O15118,Q15233,Q8IZA0,O43819,P20700,P01889,P21912,Q9H936,Q01105,O60220,P07602,Q9Y4W6,P35637,Q04656 39 |
| Epileptic spasm 0.3405743064895992 1.0722998394306915 0.2835853788806173 1.0 0.8526995884310486 57 Q01105,Q13510,Q96N66,O43175,P00846,P13073,Q9UBX3,P03886 8 |
| Short nail 0.8058637211903494 1.0722545538746804 0.2836057131494769 1.0 0.8526995884310486 4 Q9Y487,P02545 2 |
| Alveolar ridge overgrowth 0.7742701968771104 1.0721304086506067 0.2836614623088227 1.0 0.8526995884310486 2 Q15392 1 |
| Tongue nodules 0.7742701968771096 1.0721304086506027 0.2836614623088245 1.0 0.8526995884310486 2 O43924 1 |
| Deformed sella turcica 0.7976230899830237 1.0705478109655389 0.2843728003767456 1.0 0.8526995884310486 3 O75431,P08236 2 |
| Abnormality of earlobe 0.3985714593972059 1.0692892035370964 0.2849393739945682 1.0 0.8526995884310486 23 Q15392,P16435,P21964,P10586,P53701 5 |
| Bladder diverticulum 0.5170532937477106 1.0685810592565352 0.2852584870200236 1.0 0.8526995884310486 9 P35250,Q9NWM8,Q04656,Q9Y4P3 4 |
| Parkinsonism 0.3846849867453083 1.068518376371096 0.2852867456203767 1.0 0.8526995884310486 29 Q9NZJ7,Q15043,Q99720,Q96RL7,P07602,P61457,Q9Y4W6,P04062,P35637 9 |
| Abnormality of lysosomal metabolism 0.7030808219635506 1.0673284503549014 0.2858235452309219 1.0 0.8526995884310486 5 P07602,Q13510 2 |
| Decreased circulating follicle stimulating hormone concentration 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Hypothalamic hypothyroidism 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Brain stem compression 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Neuralgia 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Ear pain 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Progressive pulmonary function impairment 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Transient global amnesia 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Decreased circulating gonadotropin concentration 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Intracranial meningioma 0.7725729803122876 1.0647667486644423 0.2869814958129395 1.0 0.8526995884310486 2 Q9UMX1 1 |
| Fatigable weakness of bulbar muscles 0.4478648870905363 1.064261244757546 0.2872103692997121 1.0 0.8526995884310486 15 Q92804,P09651,P50995,Q15165,P35637 5 |
| Bird like facies 0.7021622111371469 1.0634501010334103 0.28757788258242 1.0 0.8526995884310486 5 P02545 1 |
| Drowsiness 0.5524366866962804 1.0631033607742968 0.2877350805438032 1.0 0.8526995884310486 7 Q5H8A4 1 |
| Hepatosplenomegaly 0.3723358197905286 1.0618742574322833 0.2882927729756583 1.0 0.8526995884310486 34 O75845,Q13510,P10619,P07686,P16278,Q14739,P04062,Q9UJS0,Q96HY6 9 |
| Bruxism 0.6019531792195811 1.0618736793587993 0.2882930354416402 1.0 0.8526995884310486 6 P61978,Q96RL7 2 |
| Psoriasiform dermatitis 0.7949066213921674 1.059480396528906 0.2893810524491771 1.0 0.8526995884310486 3 Q15800,P10321 2 |
| Lethargy 0.3288397027590015 1.0589991260123388 0.2896001777528592 1.0 0.8526995884310486 74 P50416,O43676,Q9Y619,Q86Y39,P23786,Q9NPL8,Q16836,O43772,P62847,P09622,Q9UJS0,Q9Y6M9,Q9HC21,P03886,Q8IUX1,Q9H936,Q9NWS8,Q9NR50,O96000,Q96CU9 20 |
| Saccadic smooth pursuit 0.7009768963660907 1.0584470152455443 0.2898516946240046 1.0 0.8526995884310486 5 O14773,Q9NW15 2 |
| Cardiomegaly 0.3764463528699635 1.0578793642114366 0.2901104442332092 1.0 0.8526995884310486 32 P50416,P07686,P54802,Q14739,Q07021,P04062,P04066,Q15233,P23786,P35250 10 |
| Choanal stenosis 0.794490535235145 1.0577863162775722 0.2901528726466751 1.0 0.8526995884310486 3 P16435 1 |
| Abnormal circulating free fatty acid concentration 0.8020809208263453 1.0575497242705063 0.2902607737389857 1.0 0.8526995884310486 4 O75431 1 |
| Severe short stature 0.3991141962529659 1.0574073266971642 0.2903257291590364 1.0 0.8526995884310486 22 P10619,Q9Y619,P16278,Q15392,P21912,P53701 6 |
| Progressive spastic paraplegia 0.3853289361366987 1.057111126959022 0.2904608735986045 1.0 0.8526995884310486 28 O00400,Q12768,Q9P0J0,O75298,Q7KZN9,P00846,Q9H2M9,Q96CU9 8 |
| Abnormal epiphyseal ossification 0.4700395213714817 1.056607667131443 0.2906906798752755 1.0 0.8526995884310486 12 Q14739,P40855,Q96HY6,O00116 4 |
| Psychotic mentation 0.8010591037450847 1.0535807075464465 0.2920749257505317 1.0 0.8529488834257173 4 P03886 1 |
| Ovotestis 0.769517990495579 1.0515294819607577 0.2930154762040204 1.0 0.8538084671131781 2 P53701 1 |
| Opisthotonus 0.3941115286545094 1.0509886119172551 0.2932638202064033 1.0 0.8538084671131781 24 Q9NZJ7,P11117,O43175,Q99720,P07602,O60313,P04062,P35637 8 |
| Hepatitis 0.4250565952110941 1.0508448416730338 0.2933298570064593 1.0 0.8538084671131781 17 P25054,P08236,Q9Y619,Q13043,P35670,Q04656 6 |
| Abnormal skin morphology of the palm 0.3205325817090648 1.050481786466572 0.293496660570155 1.0 0.8538084671131781 80 P09493,O75381,Q14739,Q9UHX1,O75431,Q9Y487,P51812,P61978,Q5SRE5,O95202,Q6NUK1,P40855,Q8NCH0,Q01082,P42166,Q13043,P16615,P53634,P02545,P42167,P21912 21 |
| Cardiac arrest 0.3803924174408086 1.0495472641884906 0.2939263139823682 1.0 0.854511305653155 30 P50416,P50402,O43772,Q9NX14,P02545,Q9H2M9,Q9H845,O15460,P04062,P35914,Q9Y4P3,P35250,P01889 13 |
| Progressive pes cavus 0.6979715134642851 1.045768368143185 0.2956679887683897 1.0 0.8562876615446545 5 O00400,O75298 2 |
| Abnormality of the gallbladder 0.3641484238409096 1.044438052314115 0.2962827659849196 1.0 0.8569757406973106 37 Q9NZJ7,O75845,P07602,O95202,Q5H8A4,P04066,P04062,Q96A33,P35250,P21964,P40855 11 |
| Thoracic kyphosis 0.4657911943277708 1.0411414346345025 0.2978099117187316 1.0 0.8602976725047149 13 Q9UHX1,O95831,P51648 3 |
| Micromelia 0.3968628370445464 1.0394373392689968 0.298601385952006 1.0 0.8604365443543085 22 O75718,O43175,Q15392,P48735,Q14739,Q9UHX1 6 |
| Microdontia 0.3968622902908828 1.0394329747641675 0.298603414865989 1.0 0.8604365443543085 22 Q9Y487,Q9UM00,Q9Y619,Q7LGA3,Q96A33,Q9Y4P3,P35250,Q6NUK1 8 |
| Abnormality of acid base homeostasis 0.3342621742142245 1.0367323103957142 0.2998606295297039 1.0 0.8604365443543085 167 P50416,O95831,Q7KZN9,O43676,Q10713,Q9Y619,O00330,Q5XKP0,P00846,O75880,Q86Y39,P48735,Q70HW3,P23786,O43464,Q9NPL8,Q16836,Q9Y584,P22695,P09622,Q6P4A7,P13073,Q9UJS0,Q9Y6M9,Q8NI60,P35610,P03886,Q9HC21,Q9BUB7,O00429,Q02252,Q9BWD1,Q9P0J0,Q07021,Q8IUX1,O43819,P16930,Q6PI48,P01889,Q9NWS8,O14949,Q5JRX3,Q3ZCQ8,P00403,Q9NVI7,P53985,O75208,Q9H845,P35914,O96000,P21912,Q7L0Y3,Q9UBX3,Q96CU9,Q4J6C6 55 |
| Scrotal hypoplasia 0.4437171431611927 1.036639864262095 0.2999037274938838 1.0 0.8604365443543085 15 P46977,Q8TCJ2,P16435,Q9H2M9,Q6NUK1 5 |
| Abnormal palmar dermatoglyphics 0.3363808747601996 1.036560118187033 0.2999409080671709 1.0 0.8604365443543085 48 Q9Y487,P51812,P61978,P25054,Q01082,P40855,Q5SRE5,O75381,Q9UQ13,O95202,Q9UHX1,O75431,Q6NUK1,P98175,Q8NCH0 15 |
| Entropion 0.528317676106323 1.0355322335436044 0.3004204210820109 1.0 0.8609387664216316 8 P02545 1 |
| Loss of eyelashes 0.7889781718246671 1.0353726512815864 0.3004949127519163 1.0 0.8609387664216316 3 P02545 1 |
| Orthostatic hypotension 0.4432421182773405 1.0334763710917356 0.3013810227325395 1.0 0.8614566267649922 15 Q9NZJ7,P07686,P07602,P04062,P20700,Q04656 6 |
| Round face 0.4428541981774251 1.0308929662955564 0.302591015385615 1.0 0.8614566267649922 15 P02545,O75718,Q03164 3 |
| Brittle hair 0.454108269346857 1.0274820751728315 0.3041935215925959 1.0 0.8639096013229726 14 Q9Y487,Q6PGP7,Q9NVI7,O75844,P18074,Q6NUK1,Q9Y276 7 |
| Abnormality of the breast 0.2995824214274891 1.0261118202044384 0.3048388793176457 1.0 0.8644590731252502 91 Q96AA3,P25054,Q9Y619,P51809,P48735,Q5H8A4,P23786,O75874,Q2TAA5,P10586,Q15067,P61978,Q9UM00,P31751,Q5SRE5,O95202,Q6NUK1,Q8NI60,Q12768,Q01082,Q7LGA3,Q15233,Q9H2M9,P07437,P02545,Q96A33,P21912 27 |
| Generalized hirsutism 0.39284789133797 1.023008767674416 0.3063037003656204 1.0 0.867192532374691 23 P53634,Q03164 2 |
| Myotonia 0.5440912724992344 1.0217437605450437 0.3069021935126432 1.0 0.8683459323296705 7 P02545 1 |
| Profound global developmental delay 0.4871790529738447 1.020939534396847 0.3072830870004832 1.0 0.8687015140232719 10 Q9H490,P37268,P40855,O75381 4 |
| Proportionate short stature 0.3723381777952231 1.0202679599509372 0.3076013943801594 1.0 0.8687015140232719 32 Q96HY6,Q16836,P10619,Q13555,Q9Y619,P16278,Q15392,Q14739,P21912,P53701 10 |
| Abnormality of the nasal cavity 0.762050237610318 1.0192710773839069 0.3080742909471321 1.0 0.8694966323377443 2 Q9UMX1 1 |
| Long fingers 0.3318289400467766 1.015785488381013 0.3097315479087403 1.0 0.8730894253705436 67 P55795,Q8NCH0,O95202,Q9UHX1,Q5H8A4,P23786,P21964,P53634,P42892,P16435,Q03164 11 |
| Increased blood pressure 0.3316530855813411 1.0135455332940877 0.3107996586433734 1.0 0.8755571288750706 67 P36551,Q8TAA9,P02545,Q10713,P00403,P06280,P21912,O75844,P04062,P16435,P35250,P21964,P42892,P35610,P03886,Q9BUB7 16 |
| Hydrocephalus 0.332713074877622 1.011069275549789 0.3119832744067472 1.0 0.877343839859558 65 Q10713,P48651,O43505,P23786,P16435,Q08J23,Q969G3,Q9H490,Q9NX14,O95202,P04062,P21964,Q6NUK1,P40855,P53701,Q8TAA9,Q12768,P51798,Q01082,P08236,O95140,Q15392,Q9UMX1 23 |
| Constipation 0.3043371587907628 1.0081798743235806 0.3133681177939591 1.0 0.8801778629740021 88 P16435,Q03164,Q03252,P61978,P37268,P04062,P21964,P42892,Q8NCH0,P03886,Q8TAA9,O76024,Q13423,Q7LGA3,P20700,P36551,P55795,P78318,P00403,P21912 20 |
| Mixed demyelinating and axonal polyneuropathy 0.7891597264890515 1.007466384478753 0.3137107039311493 1.0 0.8801778629740021 4 P00403,P03886 2 |
| Joint contracture of the hand 0.3552279752589573 1.0055005318261774 0.3146558935136312 1.0 0.8801778629740021 39 P02545,O43175,Q9Y619,Q15392,O75844,P16435,P42892 7 |
| Hip osteoarthritis 0.7586558044806506 1.0046578657092735 0.3150616232905627 1.0 0.8801778629740021 2 P01889 1 |
| Opsoclonus 0.7586558044806424 1.0046578657092384 0.3150616232905796 1.0 0.8801778629740021 2 P04062 1 |
| Abnormal larynx morphology 0.383617948939196 1.0044708542138214 0.315151712821017 1.0 0.8801778629740021 26 Q13510,P02545,P07602,Q14739,Q9UHX1,P16435,P21964,Q96HY6 8 |
| Breech presentation 0.5219958916569818 1.0028051605584247 0.3159548784446562 1.0 0.8813376105908642 8 Q9Y619,O75718 2 |
| Abnormal nervous system electrophysiology 0.3324859965953503 1.0010130312261127 0.3168205083815503 1.0 0.8820618635621161 168 Q9NZJ7,Q9BQE5,O95831,O43175,Q9Y619,P00367,O75381,O60313,Q5H8A4,P50897,Q08J23,Q15067,O14773,Q14108,Q5SRE5,P13073,O95202,Q9UBB4,P21964,P40855,P03886,Q9NQZ5,Q99720,P20700,O75503,Q96N66,P02545,O60220,P07602,P00403,Q96A33,Q9UBX3 32 |
| Pulmonary infiltrates 0.5398905748520174 1.0009413153757911 0.3168551807400419 1.0 0.8820618635621161 7 Q9NZ08,Q13510 2 |
| Complex febrile seizure 0.7576374745417476 1.0002802883441644 0.3171748837250869 1.0 0.8820618635621161 2 Q8WVX9 1 |
| Specific learning disability 0.3327382551576611 0.9986648697728636 0.3179570640499745 1.0 0.8836455628570078 63 P25054,P04350,Q10713,P48651,Q9Y619,P00367,O43505,P22626,Q9BVA1,Q9NX14,Q96EK5,P21964,P03886,P53701,Q01082,P09651,Q6PI48,P00403,Q5THJ4,P35637,O75845,Q04656 22 |
| Retinal degeneration 0.3338672479900203 0.9969028685433532 0.3188116591814047 1.0 0.8849270747784127 51 O14773,Q13510,Q96S66,P02545,Q10713,O60313,P04062,Q7LGA3,P51648,P50897,Q9NW15,O75503 12 |
| Abnormality of corneal size 0.3635103954796577 0.9965264980050657 0.3189943988747887 1.0 0.8849270747784127 35 O75845,P07437,Q9NWM8,Q96EK5,O43505,Q9H2M9,O95202,Q5H8A4,Q9Y4P3,P35250,Q8NCH0 11 |
| Follicular thyroid carcinoma 0.756279701289877 0.9944482208694598 0.3200047019442635 1.0 0.8871881425471224 2 P21912 1 |
| Short lingual frenulum 0.7841836809837348 0.9882462726190956 0.3230320512333111 1.0 0.8892561832837529 4 P02545 1 |
| B lymphocytopenia 0.5372980931332592 0.9881101503419628 0.3230987051717924 1.0 0.8892561832837529 7 Q13432 1 |
| Abnormal pleura morphology 0.3992470123820058 0.9857542496711804 0.3242537211322276 1.0 0.8892561832837529 20 P08236,Q14739,O15460,Q9NZ08,Q13043,Q6NUK1,Q8NCH0 7 |
| Spastic diplegia 0.3861475936836546 0.9857145317087412 0.324273216483534 1.0 0.8892561832837529 24 Q9NZJ7,Q01082,Q99720,P07602,O00330,P51648,P35637 7 |
| Vertebral hypoplasia 0.4809061665313083 0.9852106462931256 0.3245206122337793 1.0 0.889397866097885 10 Q14739,P16278,Q8TAA9 3 |
| Hypopigmentation of the skin 0.3443102095525373 0.9816165882991876 0.3262887721011693 1.0 0.8900753438791812 42 P02545,P07602,P21912,Q8IZA0,P21964,P53634,P53701 7 |
| Recurrent bacterial infections 0.4028495329050751 0.9811144546287166 0.3265363031103288 1.0 0.8900753438791812 19 P00813,Q15904,O00165,Q8N5M9,P53634 5 |
| Progressive peripheral neuropathy 0.7755517826824937 0.9810345561463626 0.3265757009865981 1.0 0.8900753438791812 3 Q9NZJ7,P07602 2 |
| Vegetative state 0.7755517826824937 0.9810345561463626 0.3265757009865981 1.0 0.8900753438791812 3 Q9NZJ7,P07602 2 |
| Chondrosarcoma 0.7752122241086408 0.9796654448117356 0.3272512885186214 1.0 0.8905586188712977 3 P48735,Q92804 2 |
| Widened subarachnoid space 0.3870420750383108 0.9760526653831312 0.3290383664736755 1.0 0.8947638164311082 23 P03886,P00403,O95831 3 |
| Cupped ear 0.4790856525430326 0.9748458440967736 0.3296367328082039 1.0 0.8953074401259834 10 P78318,P42892,Q15392 3 |
| Difficulty walking 0.3254315615856298 0.973887831382956 0.3301122363484488 1.0 0.8955402996820008 71 Q9NZJ7,Q13510,P00846,O43681,Q9BUK6,Q15067,O14773,P35670,P43243,Q9HC21,O00429,Q12768,O75298,Q99720,O95140,P50570,Q9UMX1,Q6PI48,Q9H0B6,O43292,P07602,Q8TD16,P31483,P35637 24 |
| Absent septum pellucidum 0.3753457614247479 0.9706224447848196 0.3317363248865321 1.0 0.896665866082934 28 Q96N66,Q9NX14,O43175,P48651,O43505,Q15392,O95202,P51571,Q08J23,P53701 10 |
| Emg neuropathic changes 0.3795483535376093 0.9701658413066286 0.3319638342969648 1.0 0.896665866082934 26 Q9NZJ7,O14773,Q13510,P07602,Q96RL7,O95140,P09651,P22626,O60313,O43819,Q04656 11 |
| Decreased pulmonary function 0.7728353140916813 0.9700892669350772 0.3320019984761275 1.0 0.896665866082934 3 P08236,Q9UMX1 2 |
| Hemifacial spasm 0.7728353140916797 0.970089266935071 0.3320019984761306 1.0 0.896665866082934 3 Q10713,Q9UMX1 2 |
| Abnormality of the extraocular muscles 0.7727071047654559 0.9695731156206068 0.3322593189645102 1.0 0.896665866082934 3 P43243 1 |
| Neoplasm of the respiratory system 0.4554102405037626 0.9673631545419116 0.3333625225243415 1.0 0.896665866082934 12 P02545 1 |
| Aplasia hypoplasia of the lungs 0.3689036216068976 0.9668899689147368 0.3335990417534205 1.0 0.896665866082934 31 P02545,O43175,O75844,O95202,Q14739,Q5H8A4,O96000 7 |
| Aganglionic megacolon 0.4535437940169466 0.9651456004776816 0.3344718896418901 1.0 0.896665866082934 13 Q10713,Q9UMX1,P21964,P42892,Q04656 5 |
| Abnormal insulin level 0.3875567100191848 0.9651419195587572 0.3344737330569043 1.0 0.896665866082934 22 Q16836,P02545,P31751,P53985,P00367,O75844,O75431 7 |
| Papilloma 0.5325737326682578 0.9647444193899314 0.3346728408487331 1.0 0.8966706301984926 7 P16615,P21912 2 |
| Dyschromatopsia 0.5804779589476177 0.9627734387494292 0.3356612329514234 1.0 0.8982595067910885 6 O60313,Q9H061,Q9Y4W6 3 |
| Vitritis 0.7697792869269844 0.9577970873885162 0.3381650881858777 1.0 0.8992321065922952 3 P04439,P53701 2 |
| Distal peripheral sensory neuropathy 0.6770040426226155 0.9576425054555808 0.3382430578094204 1.0 0.8992321065922952 5 P03886 1 |
| Abnormal b cell morphology 0.475896995553112 0.9566983015532908 0.3387195556515878 1.0 0.8992321065922952 10 Q13432 1 |
| Neoplasm of the gallbladder 0.7758152173913149 0.9560193083273376 0.3390624796058263 1.0 0.8992321065922952 4 Q9NZJ7,P07602,Q13043 3 |
| Decerebrate rigidity 0.775815217391315 0.9560193083273376 0.3390624796058263 1.0 0.8992321065922952 4 Q9NZJ7,P07602,P16278 3 |
| Biliary tract neoplasm 0.7758152173913149 0.9560193083273376 0.3390624796058263 1.0 0.8992321065922952 4 Q9NZJ7,P07602,Q13043 3 |
| Kyphosis 0.313772523929646 0.9553985011804392 0.3393762116853802 1.0 0.8992321065922952 135 O95831,P48651,Q14739,Q9UHX1,Q5H8A4,Q9HC07,Q9Y487,P51812,Q9NWM8,Q14108,O95202,Q9BT22,P04062,P04066,P51648,P35250,Q8NCH0,P50402,Q12768,Q32P28,Q01082,P08236,O95140,P16278,Q7LGA3,Q15233,Q9UMX1,Q9H2M9,P01889,P21912,Q9H0B6,P02545,Q8TD16,O75844,Q9Y4P3,Q5KU26,Q04656 37 |
| Supraventricular arrhythmia 0.4427970795878277 0.954982053512734 0.3395867726479706 1.0 0.8992321065922952 14 P02545,P00846 2 |
| Abnormal nipple morphology 0.3295263145599025 0.9539583566339296 0.3401047221247193 1.0 0.8993736170950535 49 P07437,P61978,Q96AA3,Q9UM00,Q12768,Q5SRE5,Q6NUK1,O95202,Q5H8A4,Q7LGA3,Q15233,P23786,Q9H2M9,Q2TAA5,P10586,Q96A33,Q15067 17 |
| Long toe 0.4956382889772162 0.9529318131254996 0.3406246200523055 1.0 0.8998827171614397 9 Q8WXI9,Q9UHX1,O60762,P23786,P10644 5 |
| Cerebral inclusion bodies 0.451459335061714 0.9522206277866884 0.3409851016781093 1.0 0.9003116223273265 13 O15118,P04062,P09651,P22626 4 |
| Decreased circulating total igm 0.5293002407217584 0.948569243252134 0.3428397400830043 1.0 0.9032733202198496 7 P00813 1 |
| Microretrognathia 0.4303778344985013 0.9478348349426025 0.3432135435782584 1.0 0.9032733202198496 15 Q16625,Q9UHX1,Q8NCH0 3 |
| Prominent ear helix 0.7734372558642808 0.9468855761222584 0.3436970886135828 1.0 0.9032733202198496 4 P02545,O75844 2 |
| Progressive hearing impairment 0.4300974118263698 0.9459693252681112 0.3441642320567935 1.0 0.9034561660851428 15 O60220,P00403,P03886,O76024 4 |
| Proptosis 0.3279417202160591 0.9456635394553286 0.3443202247524941 1.0 0.9034561660851428 47 P61978,O75718,Q32P28,P02545,O43175,O75844,O95202,Q5H8A4,P16435,O75431,Q5KU26 11 |
| Subcutaneous hemorrhage 0.3581107409508149 0.94507092310953 0.3446226687907205 1.0 0.9034561660851428 35 P49257,Q9NWM8,Q14108,Q16625,P04062,P35670,Q8NCH0,P21964 8 |
| Weight loss 0.3262191209691041 0.9443281297982068 0.3450019955032204 1.0 0.903567185917368 67 Q9NZJ7,Q96RL7,O00330,O15460,P04062,P35670,P42892,P35610,Q99720,Q13423,Q13043,P35637,Q9NZ08,P01889,P02545,P07602,O75844,Q01844,P35914,P21912,Q6UN15,Q04656 22 |
| Unilateral renal agenesis 0.4100948192199113 0.943916120576785 0.3452125134872186 1.0 0.9035977311554848 17 Q86XL3,Q9UHX1,Q7LGA3,P16435 4 |
| Abnormality of the adrenal glands 0.3291785897337737 0.9427157685837898 0.3458263055896071 1.0 0.903857137667112 51 Q12768,Q02978,P25054,P02545,P51809,O95470,O75381,Q13423,P48735,O75844,P33991,Q9UMX1,P16435,O75874,P40855,P21912 16 |
| Abnormal enzyme coenzyme activity 0.3315023406319003 0.9421221484864978 0.346130106153689 1.0 0.903857137667112 174 P55263,P50416,Q9NZJ7,Q13510,Q10713,Q9Y619,Q96RL7,P00813,O43505,P22626,Q5XKP0,P00846,Q14739,Q9HC07,P23786,O75431,Q2TAA5,Q15067,Q16836,O43772,P10619,P62847,P09622,Q8N511,Q14566,P04062,Q9UJS0,P35670,P40855,P03886,P07686,Q16625,P16278,P09651,O15118,Q07021,Q13043,P10253,P16930,Q5JRX3,P07602,Q15904,Q96A33,P35914,O75845,Q9NW15 46 |
| Visual acuity test abnormality 0.7721920254957613 0.9421070973963872 0.3461378111507485 1.0 0.903857137667112 4 P25054,Q9UMX1 2 |
| Muscle weakness 0.3669467662708778 0.9390328606234593 0.3477138731428595 1.0 0.903857137667112 272 O95831,O43676,P48651,Q96RL7,Q5XKP0,P00846,Q70HW3,Q9HC07,P51812,Q9NWM8,P00558,Q9BQT8,P50995,O15460,Q15165,Q6NUK1,P43243,Q8NCH0,P03886,Q12768,O75298,Q99720,O95140,P50570,O15269,Q9UMX1,Q6PI48,P01889,P02545,Q3ZCQ8,P07602,Q96BR5,P00403,O14979,Q9H845,O96000,P35637,Q13510,Q86Y39,Q14739,P23786,O43772,P13073,Q6DKK2,P50402,P17900,Q9P0J0,Q8IUX1,O43819,Q8TD16,Q96CU9,Q10713,P22626,Q9UHX1,Q15067,Q9NPL8,P61978,Q92804,Q9Y6M9,P40855,P07686,P20700,P36551,Q5THJ4,P06865,P21912,Q5KU26,Q5T8D3,Q4J6C6,Q9NZJ7,Q15043,O43505,O75381,O60313,Q9BUK6,P05023,P35670,Q8NI60,Q9HC21,P09651,Q15233,P10253,Q9H936,O00400,Q9Y4W6,Q6UN15,Q8WVX9 87 |
| Episodic tachypnea 0.509648621243654 0.9389733387289858 0.3477444330662043 1.0 0.903857137667112 8 P22695,Q10713,O43924 3 |
| Abnormality of the dorsal column of the spinal cord 0.7642847132153919 0.9357558813131844 0.3493988916476267 1.0 0.905870189153319 3 Q8WVX9 1 |
| Supernumerary bones of the axial skeleton 0.5745716965175806 0.9356183417980256 0.3494697274616567 1.0 0.905870189153319 6 O75431,Q9UHX1 2 |
| Alopecia totalis 0.574368051939635 0.9346830410687906 0.3499516692559627 1.0 0.9066022720063256 6 P02545 1 |
| Abnormality of the optic nerve 0.3525287779751354 0.9332570955800252 0.3506872416517037 1.0 0.9072192409564346 228 Q9NZJ7,Q15058,O95831,Q7KZN9,P25054,O43676,P04350,Q10713,Q15043,O43505,O75381,O00330,Q5XKP0,P00846,Q86Y39,Q9UHX1,Q5H8A4,O60313,O43681,Q9BUK6,P98175,P50897,Q9H061,Q15067,Q969G3,Q8WXI9,Q9H490,P51812,Q9NPL8,P61978,Q8WWY3,Q96S66,O95202,P37268,O15460,P04062,Q6P4Q7,P21964,Q9Y6M9,P40855,Q9HC21,P03886,O00429,P04439,Q9BSJ2,Q12768,Q9P0J0,O76024,O95140,P16278,P06280,Q7LGA3,Q9UMX1,Q8IUX1,Q9H2M9,O43819,Q9NZ08,Q6PI48,P01889,Q96PU5,Q9H0B6,O43292,Q8TCJ2,O60220,P07602,Q3ZCQ8,P00403,Q9NVI7,P78318,Q9Y4W6,Q9NR50,P51572,O96000,Q5KU26,Q96CU9 75 |
| Acute coronary syndrome 0.3953694933015897 0.9248759330303212 0.3550304467905838 1.0 0.9155843771519562 19 P02545,P06280,O75844,P35250,Q9NZ08,P01889 6 |
| Polyhydramnios 0.3255775199322794 0.9248044948862651 0.3550676121040959 1.0 0.9155843771519562 46 P02545,O43175,O75844,Q70HW3,P21964 5 |
| Erlenmeyer flask deformity of the femurs 0.7675136619200852 0.9241825565687168 0.3553912759373085 1.0 0.9155843771519562 4 P07602,P04062 2 |
| Nonprogressive cerebellar ataxia 0.7612676976559558 0.9236874091985454 0.3556490893599724 1.0 0.9155843771519562 3 O75027 1 |
| Persistence of primary teeth 0.571894294038263 0.923327214015274 0.3558367099582646 1.0 0.9155843771519562 6 P02545 1 |
| Weakness of muscles of respiration 0.355711039731068 0.9222137492131234 0.356417092728708 1.0 0.9160841369721416 35 P50402,P36551,O95831,Q13510,P02545,O95140,Q8TD16,P09651,P22626,P10253,P43243,Q15067 12 |
| Noncompaction cardiomyopathy 0.760856385964712 0.9220440511262596 0.3565055985822418 1.0 0.9160841369721416 3 P21912 1 |
| Abnormal blood ion concentration 0.3264425778984046 0.920647356518138 0.3572345691895182 1.0 0.9163372019641848 63 Q9Y487,P36551,O43819,P05023,Q15043,Q13423,P61457,Q15904,P21912,P35250,P21964,P16930,Q4J6C6 13 |
| Head tremor 0.4463478065628439 0.9205461195535696 0.3572874438080569 1.0 0.9163372019641848 13 Q99720,Q96RL7,Q9Y4W6,P35637,P20700 5 |
| Gaze evoked nystagmus 0.5059710512316102 0.9199945964976064 0.3575755829580704 1.0 0.9163372019641848 8 Q10713,Q9UBB4 2 |
| Cyanosis 0.3983991862742849 0.9188808508185816 0.3581578969892187 1.0 0.9163372019641848 18 P02545,O43772,O75844 3 |
| Oval face 0.6673764310856761 0.9174200180736846 0.3589225869323533 1.0 0.9163372019641848 5 Q01082,Q96T58,Q9UHX1 3 |
| Basal ganglia calcification 0.667144428413643 0.9164530106602028 0.3594293423708381 1.0 0.9163372019641848 5 O60313,P00403,P03886 3 |
| Childhood onset sensorineural hearing impairment 0.7594506653118982 0.91643121583761 0.3594407690171044 1.0 0.9163372019641848 3 O60220 1 |
| Prelingual sensorineural hearing impairment 0.7594506653118982 0.91643121583761 0.3594407690171044 1.0 0.9163372019641848 3 O60220 1 |
| Increased adipose tissue 0.7653310197635469 0.9158359192866066 0.3597529608895593 1.0 0.9163372019641848 4 P02545,O75431 2 |
| Oligosacchariduria 0.6668116751525568 0.91506626254076 0.3601568449769003 1.0 0.9163372019641848 5 P16278,P04066 2 |
| Hypoplastic nipples 0.4685676359222575 0.9150264362623474 0.3601777519071021 1.0 0.9163372019641848 10 Q6NUK1,P10586,Q96A33 3 |
| Very long chain fatty acid accumulation 0.765105358894967 0.914973564146743 0.3602055084677449 1.0 0.9163372019641848 4 P40855,Q5T8D3 2 |
| Osteopetrosis 0.7589134125636607 0.914287527058636 0.3605657828151114 1.0 0.9163372019641848 3 P48651,Q15392 2 |
| Saccadic oscillation 0.7589134125636507 0.9142875270585956 0.3605657828151325 1.0 0.9163372019641848 3 P04062,Q5THJ4 2 |
| Ascending tubular aorta aneurysm 0.7640150435955919 0.9108085547403044 0.3623962542326335 1.0 0.9188531402761738 4 P02545 1 |
| Narrow nasal bridge 0.7578947368421005 0.9102251931343892 0.362703760479 1.0 0.9188531402761738 3 Q15233,Q9UMX1 2 |
| Sparse body hair 0.4677153523736731 0.9101853081325094 0.3627247909462703 1.0 0.9188531402761738 10 P53634 1 |
| Abnormal blood transition element cation concentration 0.4460106237629928 0.9101013863799404 0.3627690434981196 1.0 0.9188531402761738 12 Q9Y487,O43819,Q15904 3 |
| Type i diabetes mellitus 0.4512759366931689 0.90967677336008 0.3629929968522889 1.0 0.9189081769898612 11 P03886 1 |
| Hyperextensibility of the finger joints 0.7626064933387903 0.90543183895518 0.3652366546354073 1.0 0.9204513195523778 4 P48651,Q5H8A4 2 |
| Abnormality of hand joint mobility 0.7626064933387903 0.90543183895518 0.3652366546354073 1.0 0.9204513195523778 4 P48651,Q5H8A4 2 |
| Abnormal circulating carboxylic acid concentration 0.3027272440116667 0.9044837841800863 0.3657389290437138 1.0 0.9204513195523778 85 P55263,P11413,O43175,Q9Y619,O00330,Q5XKP0,P00846,O75880,Q14739,P48735,P23786,P22695,P09622,P61457,P37268,Q9UJS0,P40855,P03886,Q9BUB7,Q9P0J0,Q8IUX1,P16930,P36551,O75208,O96000,O75845 26 |
| Chromosome breakage 0.5029459482183021 0.9043978033115896 0.3657845025654764 1.0 0.9204513195523778 8 P13073,P33991,Q9UMX1,Q969G3 4 |
| Delayed menarche 0.5673791842327265 0.9026291654174085 0.3667227421089158 1.0 0.9204513195523778 6 P02545,O75844 2 |
| Widely spaced incisors 0.7558573853989832 0.902109602095932 0.3669986486213514 1.0 0.9204513195523778 3 Q8WXI9,Q9BSJ2 2 |
| Apnea 0.3072000814602232 0.9017875844455756 0.3671697163193546 1.0 0.9204513195523778 82 Q9NZJ7,Q7KZN9,Q10713,P00846,Q86Y39,O75880,O60313,P23786,Q03001,O43464,O43772,O43924,P04062,P03886,Q9P0J0,O76024,Q15233,O43819,P07602,Q96A33,P35914,Q96CU9 22 |
| Focal non motor seizure 0.4859069190836773 0.9005116310818277 0.3678480384141962 1.0 0.9204513195523778 9 O43175 1 |
| Fragile nails 0.5195044990013775 0.9002563534079204 0.3679838427102935 1.0 0.9204513195523778 7 Q9Y487 1 |
| Temporal pattern 0.5668029795741973 0.89999056656192 0.3681252709122877 1.0 0.9204513195523778 6 O60313,P04062 2 |
| Orofacial dyskinesia 0.5192687525369574 0.8990955727430011 0.368601756075656 1.0 0.9204513195523778 7 Q9BPX6,Q96RL7,P42704,O75569 4 |
| Kinetic tremor 0.358996215601765 0.8981540283967429 0.3691034382612836 1.0 0.9204513195523778 32 Q9NZJ7,Q14108,O15020,Q01082,P07602,Q69YN2,Q9Y4W6,Q8N2K0,P18074,Q9UBB4,Q15233,Q06787,O43681,O75027,Q9NW15,P20700,Q9BUB7 17 |
| Abnormality of the pharynx 0.3232116582447761 0.8981284066135811 0.3691170962242425 1.0 0.9204513195523778 46 Q13510,P01889,P00813,P08236,P54802,P16278,P15586,Q9H9E3,O15460,Q86U42,Q13432,P21964,P43243,O15344,Q969G3 15 |
| Photophobia 0.3548736062955843 0.8976062757363028 0.3693954920802145 1.0 0.9204513195523778 34 Q9NZJ7,P04439,Q96S66,O60220,P07602,Q6P4Q7,P51648,Q13432,Q9NZ08 9 |
| Biliary cirrhosis 0.5185777531791285 0.8956937746254986 0.3704163361976691 1.0 0.9204513195523778 7 P09601 1 |
| Abnormal connection of the cardiac segments 0.3247840241039458 0.8955353185437201 0.3705009945190793 1.0 0.9204513195523778 50 Q12768,P02545,O43175,Q96DF8,P40855,O75844,Q9UHX1,O15460,Q9UMX1,Q9Y4P3,P35250,P21964,P98175,Q15056,Q8TAQ2,P01889,Q969G3 17 |
| Decreased calvarial ossification 0.7597612576302735 0.8945849147438302 0.3710090188187687 1.0 0.9204513195523778 4 P02545,O75844 2 |
| Abnormal sacrum morphology 0.3560641028523199 0.8939497704285265 0.3713487667096804 1.0 0.9204513195523778 33 P53701,P61978,O95202,Q14739,Q5H8A4,P04066,Q08J23,Q03164 8 |
| Agenesis of corpus callosum 0.3120407399704489 0.8937570525426132 0.3714518924553069 1.0 0.9204513195523778 78 Q15058,O43175,Q10713,P48651,O43505,O00330,Q9UHX1,Q5H8A4,P23786,Q9BVA1,Q969G3,P61978,Q9NX14,O95202,Q9HC21,P03886,O15344,P53701,Q15392,Q7LGA3,Q9UMX1,Q9H2M9,Q86XL3,P78318,P00403 25 |
| Abnormal metacarpal morphology 0.3678945235596214 0.8930959954504106 0.3718057673250634 1.0 0.9204513195523778 27 P51812,Q32P28,O43924,P08236,P16278,Q14739,Q15233,Q9UMX1,P16435 9 |
| Arrhinencephaly 0.5178792485493944 0.8922559213430148 0.3722557745189578 1.0 0.9204513195523778 7 P21964 1 |
| Convex nasal ridge 0.3828159320903058 0.8920411836008055 0.3723708584396075 1.0 0.9204513195523778 21 P25054,P02545,Q9H9E3,Q5SRE5,O75844,O95202,Q6NUK1,Q04656 8 |
| Prenatal movement abnormality 0.3252549753087411 0.8894134975014334 0.373780893598012 1.0 0.9204513195523778 57 Q7KZN9,P02545,O43175,Q5SRE5,Q8TD16,O75844,O95202,Q5H8A4,P04062,Q70HW3 10 |
| Lipodystrophy 0.3539915623489923 0.8893189736121414 0.373831677280702 1.0 0.9204513195523778 34 P09493,Q9Y487,Q03252,P50402,P02545,P31751,O75844,P04066,P42167,O75431,Q6NUK1 11 |
| Narrow mouth 0.324568748905701 0.8891485830525488 0.3739232316963681 1.0 0.9204513195523778 61 Q9Y487,P02545,Q9Y619,Q15392,O75844,P04062,P16435,O75431,P21964,Q8NCH0 10 |
| Segmental peripheral demyelination remyelination 0.6604334038713398 0.8885313603232868 0.3742549945251892 1.0 0.9204513195523778 5 P00846 1 |
| Abnormal protein o linked glycosylation 0.7581521739130566 0.8884590273122834 0.3742938860906641 1.0 0.9204513195523778 4 Q8N511,Q10471,Q15904 3 |
| Lipoma 0.5642578413760195 0.8883437786987635 0.3743558574153145 1.0 0.9204513195523778 6 Q9BUK6,Q8TAA9,P21912 3 |
| Chorioretinal coloboma 0.6603099872271114 0.8880188269274333 0.3745306241969066 1.0 0.9204513195523778 5 Q10713,Q12768 2 |
| Abnormal heart rate variability 0.757741859096619 0.8868979276008216 0.3751338575222886 1.0 0.9204513195523778 4 P07602 1 |
| Slender finger 0.3518660212536477 0.8856139613410167 0.3758255856777841 1.0 0.9204513195523778 35 O95202,Q5H8A4,P16435,P21964,P53634,Q8NCH0 6 |
| Abnormal ovarian physiology 0.3861135921839568 0.8851259044701114 0.3760887294707191 1.0 0.9204513195523778 20 P02545 1 |
| Abnormality of coagulation 0.3247673589009111 0.8847800506539043 0.3762752710107993 1.0 0.9204513195523778 54 Q96AA3,Q9Y619,O75381,P48735,Q5XKP0,O75874,Q9Y487,Q16836,P09622,Q9UJS0,P40855,Q9Y276,P49257,Q9H9E3,P51571,Q13043,P16930,Q9H845,Q4KMQ2,P35914,Q6UN15 21 |
| Cerebellar atrophy 0.3057702655549547 0.8846691460627841 0.3763351011857789 1.0 0.9204513195523778 128 P12235,P04350,Q10713,Q15043,Q9Y3E5,Q9Y320,Q5XKP0,O60313,Q96D71,Q5H8A4,P18074,O60762,Q9BVA1,O14773,Q9H490,Q14108,Q9H270,Q13217,P13073,Q9BT22,Q9UBB4,Q8N0X7,Q92643,Q8N2K0,Q8NI60,Q6DKK2,Q9Y276,O00429,O15020,P51798,Q8IV08,Q6PI48,O75503,P46977,P07437,Q9H936,O00400,O43292,Q5JRX3,Q8TCJ2,Q96BR5,Q9NVI7,Q9Y4W6,O75208,P51572,Q06787,O75845,Q96F07,Q96CU9,Q9NW15,Q8WVX9 51 |
| Abnormality of the gingiva 0.3254773421254465 0.8840441114633663 0.3766724010460001 1.0 0.9204513195523778 45 O75845,P49257,Q14108,P53634,P08236,P16278,Q15392,Q14739,Q6UN15,P04062,Q5JRA6,P35250,P20700 13 |
| Flat forehead 0.7511082550113147 0.8832403695751666 0.3771064142770386 1.0 0.9204513195523778 3 Q8NCH0 1 |
| Brisk reflexes 0.3755521618694855 0.8831959128974038 0.3771304294703907 1.0 0.9204513195523778 23 Q9BSJ2,Q5JRX3,Q10713,Q99720,P35637,Q8NI60,Q9NW15 7 |
| Focal dystonia 0.3815154141775289 0.8818879432022972 0.3778374076959629 1.0 0.9204513195523778 21 Q9NQZ5,Q01082,O60220,Q15043,Q99720,Q96RL7,P35637 7 |
| Axonal degeneration regeneration 0.7562819938039935 0.8813469958950292 0.3781300367672418 1.0 0.9204513195523778 4 P02545 1 |
| Secondary microcephaly 0.3199314589711639 0.881280097328053 0.3781662356918021 1.0 0.9204513195523778 69 Q15043,Q5XKP0,Q86Y39,Q9UHX1,Q9HC07,P50897,Q9Y487,O43464,Q9BT22,Q9HC21,Q9BSJ2,Q9H936,P55795,O75208,Q9NR50,Q5T8D3,Q5KU26,Q96CU9,Q8WVX9 19 |
| Abnormal systemic arterial morphology 0.3044614776772171 0.8803745914710593 0.3786564163336117 1.0 0.9204513195523778 126 P55263,Q13510,P00846,Q9UHX1,Q9NWM8,P61978,P10619,P62847,P04062,P21964,P03886,P53701,P17900,P07686,P16278,O15118,Q7LGA3,P02545,P07602,O75844,P06865,P21912,O75845 23 |
| Ichthyosis 0.3631410583347882 0.8794825968495287 0.379139665105801 1.0 0.9204513195523778 29 P50402,P02545,O43175,O95470,P04062,P51648,Q15800,P40855 8 |
| Abnormality of the elbow 0.3237503377880583 0.8770121439910885 0.3804800420079974 1.0 0.9221786607142448 52 P50402,Q13510,P02545,Q9Y619,P37268,P23786,P16435,Q03164 8 |
| Cns hypomyelination 0.3399203271504095 0.8769149070245951 0.3805328586899885 1.0 0.9221786607142448 40 O00400,Q9NWS8,P07686,O43175,Q99720,O75746,P51572,P35637,Q5T8D3 9 |
| Increased urine alpha ketoglutarate concentration 0.755023024181031 0.8765641687613661 0.3807234083406521 1.0 0.9221786607142448 4 P00367,P21912 2 |
| Abnormal circulating androgen level 0.4453676061879006 0.8745711669653131 0.3818072818209759 1.0 0.923426346860918 11 P51809,Q13423,Q9UMX1,P16435 4 |
| Decreased circulating cortisol level 0.5139821165102809 0.8730926028180542 0.3826126054895407 1.0 0.9241686098826278 7 Q13423,Q9UMX1,P16435 3 |
| Eyelid myoclonus 0.4807311973573941 0.8726916325631529 0.3828311796946684 1.0 0.9241686098826278 9 Q13510 1 |
| Abnormal morphology of the musculature of the neck 0.4379472247915579 0.8685769405230943 0.3850785717088678 1.0 0.9241686098826278 13 Q99720 1 |
| Corneal ulceration 0.6554523623384627 0.8678747028174868 0.3854629289987037 1.0 0.9241686098826278 5 P02545 1 |
| Epispadias 0.5596789962450888 0.867425723497468 0.3857087926275406 1.0 0.9241686098826278 6 P48651,Q9Y619,P53701 3 |
| Abnormality of the odontoid process 0.4956645010070734 0.8669206688959623 0.3859854778596394 1.0 0.9241686098826278 8 O95831 1 |
| Congenital malformation of the right heart 0.5127165599360322 0.8668761628732882 0.3860098655067125 1.0 0.9241686098826278 7 P40855,O15460,Q12768 3 |
| Aplasia hypoplasia involving the skeletal musculature 0.495286413544462 0.8649774648388203 0.3870511576553543 1.0 0.9241686098826278 8 Q9Y487,O43175 2 |
| Abnormality of the plantar skin of foot 0.3435031633454852 0.8638764463250921 0.3876557670408935 1.0 0.9241686098826278 38 Q9Y487,P61978,P02545,P42167,O75431,P53634,P16615 7 |
| Microcornea 0.3731288835616295 0.8636406835893121 0.3877853077463955 1.0 0.9241686098826278 23 O75845,Q9NWM8,O43505,Q9H2M9,Q8NCH0 5 |
| Inappropriate crying 0.558760566770551 0.8632357173284827 0.3880078795226855 1.0 0.9241686098826278 6 O43175,P07602 2 |
| Prominent nasal bridge 0.3431940282570441 0.860815568920358 0.3893396288263129 1.0 0.9243973609609591 38 Q96EK5,Q10713,O43924,P42892,P78318,P13073,Q8WVM7,Q15233,Q9UMX1,Q5JRA6,Q9H2M9,P21964,P20700,Q10471,Q08J23 15 |
| Abnormal atrioventricular valve physiology 0.3266516347443648 0.8603500100366783 0.3895961332370987 1.0 0.9243973609609591 44 P09493,P51812,O43819,P35250,P02545,P01889,P06280,Q15904,O75844,P04062,Q15233,O75431,Q6NUK1,Q9NZ08,P53701,Q8WVX9 16 |
| Ankyloglossia 0.5112324603549503 0.8595906474524344 0.3900147322845142 1.0 0.9243973609609591 7 P02545 1 |
| Abnormal circulating aromatic amino acid concentration 0.6533987890634706 0.8593763389888593 0.3901329194014251 1.0 0.9243973609609591 5 P16930,P61457 2 |
| Cutis laxa 0.3624371863278223 0.8589101719324849 0.3903900770044393 1.0 0.9243973609609591 28 Q9Y487,Q04656,P51812,Q9NX14,P48651,Q15904,O96000,Q9Y4P3,P35250,Q6NUK1,Q8NCH0 11 |
| Focal onset seizure 0.31580902735221 0.8588515567979681 0.3904224188981642 1.0 0.9243973609609591 72 Q9NZJ7,O43175,Q10471,Q9BVA1,Q08J23,Q9UBB4,P03886,O00429,Q01082,Q9UMX1,Q96PU5,Q9H936,O75503,Q01105,Q96N66,P07602,P00403,P21912,Q9UBX3,Q8WVX9 20 |
| Postaxial foot polydactyly 0.4940095561455515 0.8584171995068742 0.3906621336288913 1.0 0.9243973609609591 8 O75845,Q14739,O43924 3 |
| Abnormality of the 5th toe 0.4940095561455515 0.8584171995068742 0.3906621336288913 1.0 0.9243973609609591 8 O75845,Q14739,O43924 3 |
| Erythema 0.3901445122395691 0.8580887241367136 0.3908434732134689 1.0 0.9243973609609591 18 P00403,P03886,P51648 3 |
| Generalized lipodystrophy 0.7501020426511895 0.8579080978719597 0.3909432123428598 1.0 0.9243973609609591 4 P02545,O75844 2 |
| Cerebral hypoplasia 0.4360643607923367 0.8569479005206099 0.3914736784608443 1.0 0.9243973609609591 13 Q86XL3,O43175 2 |
| Tachycardia 0.3739580309770579 0.8567056196704191 0.3916075967979415 1.0 0.9243973609609591 22 P09493,P36551,O43772,P02545,P23786,P42892,P21912 7 |
| Axial dystonia 0.7435371631818319 0.8533072672107909 0.3934889310849738 1.0 0.9254729310818433 3 Q99720 1 |
| Abnormal peripheral nervous system morphology 0.3142985600793703 0.852457959123953 0.3939599631949548 1.0 0.9261014344324237 149 Q9NZJ7,O95831,Q13510,Q02978,P25054,Q15043,P48651,Q96RL7,Q9Y619,O75381,O00330,P00846,P22626,O60313,Q9UHX1,Q86U42,O43681,Q15067,P51812,Q9BQT8,Q9UBB4,P40855,P43243,Q6DKK2,P03886,Q9HC21,O76024,Q01082,Q99720,O95140,P09651,P50570,O15269,Q8IV08,Q9UMX1,O43819,P20700,Q6PI48,P21912,Q9H0B6,P02545,P07602,Q96BR5,P00403,Q9NVI7,Q5THJ4,Q9Y4W6,P35637,Q04656 49 |
| Visual fixation instability 0.7430455932480314 0.8513704104295674 0.3945636232900935 1.0 0.9269862703014524 3 Q13510 1 |
| Ecchymosis 0.4567729665028545 0.8481447957698858 0.3963573368030273 1.0 0.9281006177289982 10 P04062,Q8NCH0 2 |
| Impaired smooth pursuit 0.4346007339408555 0.8479138768550879 0.3964859357212504 1.0 0.9281006177289982 13 P46977,Q10713 2 |
| Bruising susceptibility 0.362377631922266 0.8460128093935338 0.3975455984772384 1.0 0.92924238656408 27 P49257,Q9NWM8,Q14108,Q96EV8,P04062,P35670,Q6UN15,Q8NCH0 8 |
| Cerebral hemorrhage 0.4403957473185577 0.8450846673116738 0.3980635683755371 1.0 0.9297976955226892 11 P23786,P21912,Q9UMX1,Q02978 4 |
| Pace of progression 0.3147745407959902 0.8446104931598618 0.3983283484545348 1.0 0.9297976955226892 151 P55263,Q9NR28,O95831,Q13510,P04350,Q10713,Q15043,Q96RL7,O95470,Q5XKP0,O60313,Q96D71,P27544,Q03252,O14773,Q14108,P05023,P15586,P04062,Q9Y6M9,O00429,Q9NQZ5,P50402,Q8N1F7,Q12768,Q9P0J0,O75298,Q99720,P54802,O95140,P50570,Q8IV08,P20700,Q6PI48,O00400,Q9H0B6,P02545,Q96BR5,Q9Y4W6,O14979,P31483,Q04656 42 |
| Abnormal circulating fatty acid anion concentration 0.4332870705029657 0.8398099991739105 0.4010149261332274 1.0 0.9311075555543724 13 Q16836,O43772,P09622,O75880,P35914,P23786 6 |
| Gowers sign 0.4342858333753754 0.8388746391470027 0.4015396606135588 1.0 0.9311075555543724 12 Q8TD16,Q5T8D3,Q13510 3 |
| Pseudobulbar paralysis 0.4898158522030255 0.8368962193603199 0.4026509056498055 1.0 0.9311075555543724 8 P20700 1 |
| Thin skin 0.3797947734159166 0.8368252517694958 0.4026908011686325 1.0 0.9311075555543724 20 Q6ZXV5,P02545,P48651,Q9Y619,O75844,P18074,Q06787,O75431,Q13126,Q96PU5 10 |
| Mild postnatal growth retardation 0.7186014935505767 0.8351526900511715 0.403631743191728 1.0 0.9311075555543724 2 Q9Y3E5 1 |
| Long hallux 0.7186014935505767 0.8351526900511715 0.403631743191728 1.0 0.9311075555543724 2 O60762 1 |
| Neoplasm of the heart 0.7186014935505729 0.8351526900511534 0.4036317431917382 1.0 0.9311075555543724 2 Q9UMX1 1 |
| Aplasia hypoplasia of the nasal bone 0.718601493550572 0.8351526900511519 0.4036317431917391 1.0 0.9311075555543724 2 Q6NUK1 1 |
| Congenital craniofacial dysostosis 0.718601493550572 0.8351526900511519 0.4036317431917391 1.0 0.9311075555543724 2 Q6NUK1 1 |
| Hepatocellular adenoma 0.718601493550571 0.8351526900511471 0.4036317431917418 1.0 0.9311075555543724 2 O00330 1 |
| Bacterial endocarditis 0.7186014935505647 0.8351526900511203 0.4036317431917569 1.0 0.9311075555543724 2 P04062 1 |
| Tetraparesis 0.3460371409270056 0.8302145278183498 0.4064175027939174 1.0 0.9314124645706856 35 Q9NZJ7,P17900,P07602,P00846,P35637,P20700,Q9UBX3,P21912,Q8WVX9 9 |
| Limited elbow movement 0.3590316957398753 0.8295054552326419 0.406818451192402 1.0 0.9314124645706856 28 P50402,P02545,P37268,P23786,P16435 5 |
| Abnormal tricuspid valve morphology 0.4377484324049885 0.8294086518643029 0.4068732074105627 1.0 0.9314124645706856 11 P51812,Q12768,Q15233,P21964,P53701 5 |
| Abnormal magnesium concentration 0.6459077009360878 0.8284711231384713 0.4074037421104082 1.0 0.9314124645706856 5 P61457 1 |
| Acetabular dysplasia 0.4874481929633556 0.8247645889922778 0.4095052542953752 1.0 0.9314124645706856 8 Q9Y584 1 |
| Abnormality of female external genitalia 0.3470394980783226 0.8240866569466945 0.4098903211210785 1.0 0.9314124645706856 34 Q9NX14,P02545,Q9Y619,P51809,O75381,Q15392,Q9UNW1,P16435,Q9H2M9,Q6NUK1,P40855,Q08J23,P53701 13 |
| Increased sensitivity to ionizing radiation 0.7360581090728384 0.8239309544843432 0.4099787908355878 1.0 0.9314124645706856 3 Q9UMX1 1 |
| Abnormally folded helix 0.4222848395808963 0.8239251746719101 0.4099820751277425 1.0 0.9314124645706856 14 P21964 1 |
| Ventricular escape rhythm 0.6446954752243832 0.8234847939260397 0.4102323609060987 1.0 0.9314124645706856 5 P02545 1 |
| Enlarged ovaries 0.7357070041577127 0.8225568646935014 0.4107600369092057 1.0 0.9314124645706856 3 P16435 1 |
| Absent eyebrow 0.6443912582297078 0.8222341142031916 0.4109436665714692 1.0 0.9314124645706856 5 P02545 1 |
| Increased intracranial pressure 0.393001881930944 0.822115537786933 0.4110111431491674 1.0 0.9314124645706856 17 Q9NZJ7,P25054,P07602,Q9UMX1,P21912,Q9NZ08,P01889 7 |
| Rectal prolapse 0.4867896366315334 0.8213927555997339 0.4114225886683709 1.0 0.9314124645706856 8 P35250,P51812,Q08J23,Q9Y4P3 4 |
| Endocarditis 0.6440868351634528 0.8209828612831328 0.4116560305858592 1.0 0.9314124645706856 5 Q9NZ08,P04062,P01889 3 |
| Iris coloboma 0.3564274908898116 0.8207346028406345 0.4117974562769602 1.0 0.9314124645706856 29 Q12768,Q9NX14,Q01082,Q10713,O43505,P78318,O95202,Q9UHX1,Q5H8A4,Q9UMX1,P53701 11 |
| Posterior fossa cyst 0.7347314801118097 0.8187414595565573 0.412933936889758 1.0 0.9330541070248932 3 Q9UHX1 1 |
| Focal emotional seizure 0.486025206013805 0.8174802727978349 0.4136540183605053 1.0 0.933506418650501 8 O43175 1 |
| Abnormal clavicle morphology 0.3810252167291952 0.8173115216324622 0.4137504241113796 1.0 0.933506418650501 19 P02545,Q14739,Q9Y619,O75844 4 |
| Limb muscle weakness 0.3039296865521987 0.8156880520624509 0.4146785742506504 1.0 0.9346723419617836 80 Q13510,Q96RL7,P00846,Q14739,Q86U42,Q15067,P05023,Q9BQT8,P35670,P50402,Q12768,O75298,Q99720,O95140,P50570,O15269,Q9UMX1,O43819,O00400,P36551,P02545,Q96BR5,Q9Y4W6,P31483 24 |
| Anterior rib cupping 0.7387034284481244 0.8149487078267557 0.4151016707292019 1.0 0.9346972978919952 4 O95831 1 |
| Hydrocele testis 0.7383617275708569 0.8136667412530284 0.4158358921547223 1.0 0.934962045497802 4 Q9UBX3 1 |
| Abnormality of facial adipose tissue 0.7379372791893305 0.81207482483905 0.416748697831685 1.0 0.9358590267304354 4 P02545,O75844 2 |
| Neck flexor weakness 0.7372056026388909 0.8093319295006283 0.4183242449873621 1.0 0.93731033985334 4 Q99720 1 |
| Impacted tooth 0.7319512287560903 0.8078873484513488 0.4191554350384261 1.0 0.9387098555025176 3 P02545 1 |
| Alternating esotropia 0.7316668728423077 0.8067789001522264 0.4197938775471752 1.0 0.938730039608932 3 P20700 1 |
| Thoracic hypoplasia 0.3622755472547478 0.8066225385514973 0.4198839844613014 1.0 0.938730039608932 25 O75718,P02545,Q14739,Q9UHX1,P04062,Q96A33,P16435 7 |
| Arterial stenosis 0.4089049608380191 0.8054042979508642 0.4205864123712963 1.0 0.9395991434686188 15 P02545,Q9Y4P3,P35250,Q04656,P01889,P21912 6 |
| Retinal dysplasia 0.4679891765683194 0.8044483806097703 0.4211380695907496 1.0 0.9399522151379012 9 P07437,Q10713,O43505,O43924,P53701 5 |
| Brain imaging abnormality 0.3485763251288432 0.8030533787490766 0.4219438827541544 1.0 0.94046893413666 32 P07602,P00403,Q9BT22,P21912,O43819,P35610,P03886 7 |
| Intestinal malrotation 0.3596255545339017 0.8025799389985012 0.4222175672620569 1.0 0.94046893413666 26 Q14739,Q8NCH0,Q15392,P21964 4 |
| Widely patent fontanelles and sutures 0.7349123301824746 0.8007457238048797 0.4232788662861653 1.0 0.941730846824961 4 P02545 1 |
| Generalized hyperpigmentation 0.4328025059688296 0.8001739678433559 0.4236100101515996 1.0 0.941730846824961 11 Q13423 1 |
| Irregular menstruation 0.6388966163141956 0.799693122825446 0.4238886184412327 1.0 0.941810017541572 5 P02545,P10644,Q06787 3 |
| Abnormality of the thyroid gland 0.284178245198515 0.799391866181386 0.4240632253279173 1.0 0.941810017541572 98 P12235,P25054,P00813,O95470,P48735,O60313,O75874,Q9BUK6,Q969G3,P61978,P04066,P35250,P21964,P42892,P03886,O00429,O76024,Q13423,Q9UNW1,Q07021,Q9UMX1,Q13043,Q15056,Q8TAQ2,P21912,Q96T58,P02545,P00403,Q06787,Q9Y4P3,Q04656 31 |
| Flared iliac wing 0.7342248678399036 0.7981750321123449 0.424768924373204 1.0 0.9429164593804784 4 O95831 1 |
| Breast aplasia 0.7337646645595193 0.7964549931283664 0.4257676251613573 1.0 0.9437964245193476 4 P02545 1 |
| Nonprogressive 0.5439346969801853 0.7959031388497444 0.4260883367089696 1.0 0.9437964245193476 6 Q9NQZ5 1 |
| Abnormal pharynx morphology 0.3385161343032401 0.7939278395059155 0.4272374415307465 1.0 0.9444508388304096 37 Q13510,P01889,P00813,P08236,P54802,P16278,P15586,Q9H9E3,O15460,Q13432,P43243,O15344,Q969G3 13 |
| Abnormality of bladder morphology 0.431716972174743 0.7937675804847056 0.4273307492595339 1.0 0.9444508388304096 11 Q9NWM8,Q9Y4P3,P16435,P35250,Q04656 5 |
| Absence of subcutaneous fat 0.6371618280450777 0.7925960656816956 0.4280132016845723 1.0 0.9450398388992696 5 P02545 1 |
| Muscular dystrophy 0.3624342567583934 0.7917726713058348 0.4284932399781076 1.0 0.9456402537447892 24 P50402,P02545,O43175,O43505,P22626,O14979 6 |
| Sepsis 0.381004260097312 0.7909981792093401 0.4289450540037678 1.0 0.9461778278607385 18 P25054,P00813,Q9BT22,P42892,Q04656,P01889 6 |
| Biparietal narrowing 0.4460074747847902 0.787381294758619 0.4310586932595845 1.0 0.9470666430584126 10 O75845,O43924 2 |
| Macrogyria 0.5418297355046986 0.7863954013343956 0.4316358767684225 1.0 0.9470752014860724 6 O43175,Q15392 2 |
| Leg muscle stiffness 0.7306967838542411 0.7850061119708948 0.432449985084179 1.0 0.9475263179016506 4 P00846 1 |
| Obsessive compulsive trait 0.6352406475360288 0.7847479489643792 0.4326013636659889 1.0 0.9475263179016506 5 Q8WXI9,O75503 2 |
| Symphalangism of middle phalanx of finger 0.7057026476578325 0.7819989419568835 0.434215195393671 1.0 0.9475263179016506 2 Q15233 1 |
| Abnormality of the gastric mucosa 0.4051849996003746 0.7808584996551143 0.4348857228517666 1.0 0.9475872160817772 15 O76024,Q14739,P04062,Q9Y4P3,P35250,Q15056 6 |
| Aplasia hypoplasia of the earlobes 0.5395733384170538 0.7762197338587005 0.4376192562427661 1.0 0.9475872160817772 6 P21964 1 |
| Abnormality of the septum pellucidum 0.3403199480330229 0.7760204622097384 0.4377369041594692 1.0 0.9475872160817772 35 Q9BVA1,Q96N66,Q9NX14,O43175,P48651,O43505,Q15392,O95202,P51571,Q08J23,P53701 11 |
| Abnormal oral frenulum morphology 0.4238394924783981 0.7757091356203096 0.4379207445687916 1.0 0.9475872160817772 12 P02545,O75844 2 |
| Stenosis of the external auditory canal 0.493318774152102 0.7720974054509024 0.4400567388037906 1.0 0.9475872160817772 7 P16435 1 |
| Zonular cataract 0.4769767275743883 0.7712960905979274 0.4405314490670249 1.0 0.9475872160817772 8 P08670,O75533,O76024 3 |
| Hypertrichosis 0.280713642464914 0.7710521411335549 0.4406760264632929 1.0 0.9475872160817772 95 Q9P0J0,Q7KZN9,P54802,P00403,P16278,P15586,Q9UHX1,Q08J23,O43819,P53634,Q96CU9,P03886,Q03164 13 |
| Abnormal subarachnoid space morphology 0.3556819413710884 0.7695584111114165 0.4415618831121395 1.0 0.9475872160817772 26 P03886,P00403,O95831 3 |
| Abnormal circulating sex hormone concentration 0.3746019185169211 0.769357554855425 0.4416810786548759 1.0 0.9475872160817772 19 P51809,Q13423,Q9NR50,Q9UMX1,P16435 5 |
| Abnormal c peptide level 0.7263840115663872 0.768964469024008 0.4419144036480409 1.0 0.9475872160817772 4 Q16836 1 |
| Neoplasm of the peripheral nervous system 0.4126676838215855 0.7628563358870588 0.4455490790777991 1.0 0.9496130465898308 14 Q02978,Q01082,P02545,P25054,Q9UMX1,P21912 6 |
| Recurrent viral infections 0.4215365167852503 0.7618330043842658 0.4461596794526143 1.0 0.9500232349731396 12 Q13432,P00813,Q13043 3 |
| Abnormality of the anterior fontanelle 0.3478438294563942 0.7605652893340237 0.4469167587003735 1.0 0.950675849412268 30 Q9Y487,Q04656,P51812,O75718,Q32P28,Q9Y619,Q9H9E3,O75381,P16435,Q6NUK1,P40855,Q08J23 12 |
| Middle age onset 0.4259151590607536 0.7595967530100958 0.4474956606037317 1.0 0.950675849412268 11 P02545,P07602 2 |
| Abnormal midbrain morphology 0.5357537759157712 0.759034373355548 0.4478319949499552 1.0 0.950675849412268 6 Q10713,O43924 2 |
| Abnormal circulating protein concentration 0.3064866402270195 0.7586644810992789 0.4480532894031928 1.0 0.950675849412268 145 P09493,P50416,O95831,O43505,Q96RL7,O95470,O00330,Q5XKP0,P22626,Q9HC07,P23786,Q9BUK6,Q08J23,Q9Y487,Q9NWM8,Q16836,Q9Y584,O43772,Q8NFH4,Q8N511,Q9BT22,Q9UJS0,P35250,P43243,P50402,Q8N1F7,P42166,P09651,P50570,Q07021,Q13043,P10253,P16930,O00400,P36551,Q5JRX3,P02545,Q96BR5,P53985,O14979,Q9H845,P31483,P42167 43 |
| Abnormal retinal morphology 0.3306501337118398 0.7585332206499746 0.4481318331733348 1.0 0.950675849412268 199 Q9NZJ7,Q13510,Q7KZN9,Q10713,Q9Y619,O43505,O75381,P00846,O60313,Q9UHX1,Q5H8A4,Q9BUK6,P50897,Q15067,Q9Y487,O14773,Q16836,P10619,Q96S66,O43924,O95202,Q6P4Q7,P04062,P51648,P35250,P21964,P40855,Q8NCH0,P03886,P53701,P17900,Q9P0J0,O76024,P07686,P16278,Q7LGA3,Q13432,O43819,Q9NZ08,O75503,P02545,P07602,P00403,P06865,P21912,Q5T8D3,Q96CU9,Q9NW15 48 |
| Abnormal brain choline level by mrs 0.7191129432026422 0.7581701848101335 0.448349107678365 1.0 0.950675849412268 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.7191129432026422 0.7581701848101335 0.448349107678365 1.0 0.950675849412268 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.7191129432026422 0.7581701848101335 0.448349107678365 1.0 0.950675849412268 3 P07602 1 |
| Mild short stature 0.7188455008488713 0.7571419415152658 0.4489648289375123 1.0 0.9515373986436828 3 Q13555,Q14739 2 |
| Polymicrogyria 0.3103299260489624 0.7495866576255228 0.4535036890605664 1.0 0.9543463246221352 68 Q9Y487,Q01105,Q96N66,O43175,Q10713,O43505,Q16625,Q8TD16,Q15392,P37268,P23786,P40855,Q08J23 13 |
| Optic disc coloboma 0.7168142925909547 0.7493429256231404 0.4536505416337615 1.0 0.9543463246221352 3 Q10713 1 |
| Hypoplasia of teeth 0.3752416262779114 0.748871817116194 0.453934468348891 1.0 0.9543623194343074 18 P02545,P51648,O75844 3 |
| Gastrointestinal obstruction 0.4000800904497795 0.7472640102293675 0.4549042123744122 1.0 0.9547735524384892 15 Q01844,P21912,P16930,P42892,Q04656 5 |
| Abnormal carotid artery morphology 0.399995416061436 0.7467077469468423 0.4552399924477921 1.0 0.9550371771388584 15 P02545,O75844,Q9Y4P3,P35250,Q04656 5 |
| Abnormal scapula morphology 0.31008714855422 0.743927558491403 0.4569203019729375 1.0 0.9576779760908802 47 Q9Y487,P50402,P62847,P02545,Q9Y619,Q8TD16,Q14739 7 |
| Osteolytic defects of the distal phalanges of the hand 0.719508089475278 0.7435237111440227 0.4571646715374073 1.0 0.9577483944057072 4 P02545,O75844 2 |
| Abnormality of lower limb epiphysis morphology 0.4381263540051089 0.7431309867892136 0.4574023809207479 1.0 0.9578048013381928 10 O95831 1 |
| Paranoia 0.5320052918693746 0.7422200568292137 0.4579540184486643 1.0 0.9578166858701984 6 O60220,P36551,Q96RL7 3 |
| Hirsutism 0.3116836378435554 0.7411788969823985 0.4585849770031158 1.0 0.9580736255182336 51 Q03252,P36551,P02545,P08236,P54802,P16278,P15586,P16435,Q9H2M9,Q6NUK1,P53634,Q03164 12 |
| Broad foot 0.4865196097256504 0.7391508841129631 0.4598153814929586 1.0 0.9581843116689148 7 O95831 1 |
| Small earlobe 0.6238939992198644 0.738659089799536 0.4601140334642544 1.0 0.9581843116689148 5 P21964 1 |
| U shaped upper lip vermilion 0.6948404616429036 0.737913229867642 0.4605671789496015 1.0 0.9582496616973704 2 O60762 1 |
| Head banging 0.6948404616428978 0.7379132298676174 0.4605671789496164 1.0 0.9582496616973704 2 Q96RL7 1 |
| Arterial thrombosis 0.5308454761499044 0.7370283261773475 0.461105123706645 1.0 0.9586180681980746 6 O15460,Q9NZ08 2 |
| Monochromacy 0.6941615750169619 0.7351800788784153 0.4622298297061058 1.0 0.959512264131816 2 Q6P4Q7 1 |
| Ileus 0.7128487294143466 0.7341709907078652 0.4628445313128306 1.0 0.9598482555757152 3 P16930 1 |
| Eruption failure 0.4854582868232852 0.734023454097448 0.4629344436920759 1.0 0.9598482555757152 7 P02545 1 |
| Aplasia hypoplasia of the thymus 0.4364104213079043 0.7335277237090365 0.4632366251050932 1.0 0.9598482555757152 10 P21964 1 |
| Abnormality of the thymus 0.4364104213079043 0.7335277237090365 0.4632366251050932 1.0 0.9598482555757152 10 P21964 1 |
| Dermal translucency 0.4694561333552829 0.7331150573722297 0.4634882571492933 1.0 0.95993192364922 8 P02545 1 |
| Open mouth 0.3488908313874723 0.7314072056880148 0.4645304652792958 1.0 0.9612142232373044 27 P51812,P61978,P04350,Q10713,P04062,Q15233,Q86XL3,Q03001 8 |
| Abnormality of the helix 0.3402878196340945 0.7277717034435846 0.4667533488842306 1.0 0.9621593525938908 32 P36551,P02545,O75844,Q7LGA3,P23786,P21964 6 |
| Truncal titubation 0.6921249151391595 0.7269969924671187 0.467227798138651 1.0 0.9622022459527284 2 Q5T8D3 1 |
| Calvarial hyperostosis 0.62052787298216 0.7250790123095743 0.4684035591597073 1.0 0.9630982254169056 5 Q15043,P22626 2 |
| Abnormal platelet volume 0.4677297887700195 0.724380534782216 0.4688321467038281 1.0 0.9630982254169056 8 Q14739 1 |
| Synostosis of metacarpals metatarsals 0.7098866055937874 0.722886300722229 0.4697497406437061 1.0 0.9638379451551884 3 P16435 1 |
| Cupped ribs 0.6193341487748351 0.7202740105251121 0.4713563032305354 1.0 0.965132751711194 5 O95831 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.3084317771700747 0.7191338219833071 0.4720584698130965 1.0 0.965132751711194 48 P51812,P51798,P02545,P48651,O75844,Q14739,Q9UHX1,Q5JRA6,Q9UMX1,P16435,Q9H2M9,Q6NUK1,Q03164,Q969G3 14 |
| Adrenal insufficiency 0.3549524693176881 0.7176354055338597 0.4729821210069276 1.0 0.965132751711194 23 P51809,O95470,O75381,Q13423,P33991,Q9UMX1,P16435,P40855 8 |
| Contractures involving the joints of the feet 0.3603415425900418 0.71737503801677 0.473142717655727 1.0 0.965132751711194 21 P50402,P02545,Q8TD16,Q8IZA0,Q08J23 5 |
| Abnormality of the knee 0.2956762054729544 0.7171832574895936 0.4732610285183316 1.0 0.965132751711194 81 O95831,Q13510,P48651,Q9Y619,P23786,O75431,P37268,P35250,P21964,Q01082,P08236,P16278,Q7LGA3,Q86XL3,Q96PU5,P21912,Q8TD16,Q5JRA6,Q9Y4P3,Q96HY6 20 |
| Skeletal muscle atrophy 0.3096241501505721 0.7165599004454873 0.4736456946117875 1.0 0.965132751711194 157 P55263,P50416,O95831,Q13510,O43175,O43505,Q96RL7,P22626,O60313,Q9BUK6,Q03252,P51812,Q9NWM8,Q9NPL8,Q92804,Q9BQT8,Q6P4A7,P50995,Q15165,P43243,Q6DKK2,Q9HC21,O00429,P50402,Q12768,O75298,P07686,Q99720,O95140,P16278,P09651,P50570,O15269,Q13043,O43819,Q6PI48,P21912,O00400,Q9H0B6,P02545,Q96BR5,Q9NVI7,Q8TD16,O14979,Q5THJ4,P31483,Q9Y4W6,P35637 48 |
| Abnormality of the thoracic cavity 0.4183629424888399 0.715316653420055 0.4744134004317115 1.0 0.9653983392573656 11 O15460,Q01844,Q9UMX1,P01889,Q969G3 5 |
| Occipital meningocele 0.711715465727193 0.7149048065695399 0.4746678667605422 1.0 0.9654837898656684 4 P21964 1 |
| Pancreatitis 0.3635513559452976 0.7133492166819019 0.4756296893403888 1.0 0.9662412505155216 20 P02545,P00403,Q13043,Q9UJS0,Q9NZ08,P03886 6 |
| Polydactyly 0.3157580787121355 0.7107671560314782 0.4772285365281203 1.0 0.9681993251583988 43 P61978,Q10713,O43924,Q14739,Q9UHX1,Q5H8A4,O75845,P21964,Q15067 9 |
| Abnormality of the pubic bone 0.4802736513176356 0.7090404252177205 0.4782993908991924 1.0 0.9698315181820304 7 O95202,Q5H8A4 2 |
| Proximal symphalangism 0.7059422750424288 0.707925930117285 0.4789912561218319 1.0 0.9703683762004476 3 P48651,Q15233 2 |
| Symphalangism affecting the phalanges of the hand 0.7059422750424288 0.707925930117285 0.4789912561218319 1.0 0.9703683762004476 3 P48651,Q15233 2 |
| Pulmonary hypoplasia 0.3480447599082805 0.7058517217635718 0.4802803534349447 1.0 0.9712132044768984 26 P02545,O43175,O96000,O75844 4 |
| Spastic tetraparesis 0.3480238224650794 0.7056775853039046 0.4803886632757936 1.0 0.9712132044768984 26 P17900,P07602,P00846,P21912,P20700 5 |
| Megalocornea 0.4113386291026076 0.7052635974510968 0.4806462099334494 1.0 0.9712132044768984 13 Q96EK5,O95202,Q5H8A4,Q9Y4P3,P35250 5 |
| Lower limb hyperreflexia 0.3658223007978655 0.7041368014944875 0.4813475836630476 1.0 0.971379357856941 19 O00400,Q9Y4W6,P13073,Q14739,Q15233,P21912 6 |
| Severe failure to thrive 0.7049116740991807 0.7040297583129937 0.4814142416139593 1.0 0.971379357856941 3 P02545 1 |
| Impaired glucose tolerance 0.6150775657757337 0.7031883762446342 0.4819383621203665 1.0 0.9717200201864976 5 P02545,O76024 2 |
| Abnormal circulating amino acid concentration 0.3069902970485605 0.7028931911160353 0.4821223147336324 1.0 0.9717200201864976 48 P55263,Q9P0J0,O43175,Q9Y619,P61457,P00846,Q8IUX1,O96000,P16930,P03886 10 |
| Hyperreflexia 0.3340754036919164 0.7007325520289204 0.4834699372580688 1.0 0.9733661474969716 217 Q9NZJ7,Q15058,O95831,Q96AA3,Q7KZN9,Q10713,Q9Y619,Q15043,Q9Y320,O75381,Q5XKP0,P00846,Q14739,O60313,O75027,Q2TAA5,Q08J23,Q15067,O43464,O14773,O75746,Q9BQT8,P13073,Q9UBB4,P04062,P35250,P40855,P43243,Q6DKK2,P03886,Q8NI60,O00429,Q9BSJ2,P17900,Q12768,Q9P0J0,O75298,Q01082,Q99720,Q16625,O95140,P07686,Q15233,Q86XL3,P20700,Q9NZ08,Q6PI48,P01889,O75503,P21912,O14949,Q9H936,Q9H0B6,O00400,Q96N66,Q5JRX3,O43292,O60220,P07602,Q8TD16,Q5THJ4,O75208,Q9Y4W6,P35637,Q5KU26,Q96CU9,Q9NW15,Q8WVX9 68 |
| Abnormality of the ureter 0.3090372384216313 0.6970595277155318 0.4857655410723964 1.0 0.975152966008128 59 Q86XL3,Q15058,P61978,Q8TAA9,O76024,P02545,O75844,Q9UHX1,Q7LGA3,P23786,P35250,P21964,P16435,P21912 14 |
| Prominent metopic ridge 0.40934981121912 0.6931740488618648 0.4882003319741086 1.0 0.9776916300089684 13 O75845,P61978,Q5SRE5 3 |
| Low set posteriorly rotated ears 0.3071784818858423 0.691292955478358 0.4893814578959075 1.0 0.9794858404964528 65 Q10713,O75381,Q5H8A4,P16435,P98175,Q10471,Q08J23,P82673,Q9UM00,O43924,O95202,P37268,P04062,P35250,Q6NUK1,P40855,Q8NCH0,Q9UQ13,Q15392,Q9H2M9,Q15056,P07437,Q9Y4P3,Q4J6C6 24 |
| Malrotation of small bowel 0.7048165488384681 0.6897716213810661 0.4903378175989523 1.0 0.9799437588641844 4 Q8NCH0 1 |
| Positional foot deformity 0.2881283809793922 0.6884827415553781 0.4911488347831816 1.0 0.9799437588641844 85 Q9Y487,Q9NWM8,P61978,P02545,Q9Y619,Q8TD16,Q15392,O95202,Q9UHX1,Q5H8A4,P16435,O75845,P21964,Q8NCH0 14 |
| Broad nasal tip 0.3050759093002985 0.6877153011711601 0.4916320824567752 1.0 0.9799437588641844 47 Q9Y487,P61978,O95831,O43924,P16278,Q9UHX1,P10586 7 |
| Congenital contracture 0.310606513454963 0.6867455616825906 0.4922430801970008 1.0 0.9799437588641844 44 Q15058,P02545,O43175,Q8TD16,Q15392,O75844,P04062,Q96A33,Q8NCH0 9 |
| Poikiloderma 0.6993798312732915 0.6832101468600094 0.4944740618242784 1.0 0.9799437588641844 3 O75431 1 |
| Aspiration 0.4127547475333063 0.682607120325306 0.4948551335975191 1.0 0.9799437588641844 11 P43243,P06865,P17900 3 |
| Abnormality of adrenal morphology 0.3451884987687066 0.6821260186259364 0.495159269684442 1.0 0.9799437588641844 26 Q12768,Q02978,P25054,P02545,O75844,P48735,P16435,P21912 8 |
| Hypoplastic labia majora 0.4081984777644188 0.6819172936465735 0.4952912495495476 1.0 0.9799437588641844 12 Q6NUK1,Q9Y619,P16435 3 |
| Abnormal labia majora morphology 0.4081984777644188 0.6819172936465735 0.4952912495495476 1.0 0.9799437588641844 12 Q6NUK1,Q9Y619,P16435 3 |
| Abnormality of circulating glucocorticoid level 0.4447701618001136 0.6814223301761384 0.4956042973006698 1.0 0.9799437588641844 9 Q13423,Q9UMX1,P16435 3 |
| Elevated circulating growth hormone concentration 0.680244399185333 0.6797745411207197 0.4966472292140231 1.0 0.9799437588641844 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.680244399185333 0.6797745411207197 0.4966472292140231 1.0 0.9799437588641844 2 P10644 1 |
| Coloboma 0.3128189947116621 0.679676070888609 0.4967095908134258 1.0 0.9799437588641844 43 P61978,Q12768,Q9NX14,Q01082,Q10713,O43505,O43924,P78318,O95202,Q9UHX1,Q5H8A4,Q9UMX1,Q9H2M9,P53701 14 |
| Abnormal thyroid stimulating hormone level 0.6799049558723662 0.6784387498801969 0.4974935468743149 1.0 0.9799437588641844 2 P10644 1 |
| Reduced tendon reflexes 0.305707849633283 0.676799707763521 0.4985330435945587 1.0 0.9799437588641844 154 Q9NZJ7,P50416,O95831,Q13510,Q10713,O43505,Q96RL7,O75381,P00846,O60313,Q5H8A4,Q9BUK6,Q03001,Q15067,P61978,P05023,Q9BQT8,Q9BT22,Q9UBB4,P04062,P40855,P35610,P03886,Q9HC21,O00429,P50402,Q8TAA9,Q99720,P54802,O95140,P50570,O15269,O43819,P10253,Q6PI48,Q9NWS8,Q9H0B6,P02545,P07602,Q8TD16,O14979,P35914,P35637 43 |
| Short nose 0.2826120435959023 0.6763873857717129 0.4987947239672297 1.0 0.9799437588641844 88 P25054,Q9UHX1,P16435,Q03164,Q969G3,Q9Y487,Q9H490,Q9UM00,P04062,P35250,Q6NUK1,P42892,Q8NCH0,Q02252,Q12768,Q01082,Q15392,Q9UQ13,Q9UMX1,Q9H2M9,P20700,Q15056,Q9NVI7,O75844,Q9Y4P3,O75845,Q5KU26,Q8WVX9 28 |
| Macular purpura 0.4065123432914716 0.6759626840122115 0.4990643374760299 1.0 0.9799437588641844 13 Q16625,P04062,Q8NCH0 3 |
| Tall stature 0.3045658496795507 0.67563039248168 0.499275340159639 1.0 0.9799437588641844 48 Q9NWM8,P61978,Q13423,O95202,Q5H8A4,P16435,Q8NCH0 7 |
| Bilateral tonic clonic seizure 0.2939623257871785 0.6754051425741603 0.4994183991413878 1.0 0.9799437588641844 80 Q9NZJ7,Q13510,O43175,Q96RL7,Q9Y320,O00330,P00846,Q14739,Q5H8A4,P27544,P04062,Q9HC21,P03886,Q9NQZ5,P07686,Q9H936,Q01105,O43292,P07602,P00403,Q9Y4W6,Q8WVX9 22 |
| Abnormality of the zygomatic bone 0.3054456206338241 0.6748832179144901 0.4997499635404652 1.0 0.9799437588641844 66 Q9Y487,O95831,P02545,Q14739,Q9HC07,P21964,P16435 7 |
| Ketotic hypoglycemia 0.697093556254287 0.6746528052427916 0.4998963755510135 1.0 0.9799437588641844 3 Q13423 1 |
| Gonadal neoplasm 0.346183885169571 0.6743005064226806 0.5001202821511317 1.0 0.9799437588641844 25 P02545,Q01844,Q13423 3 |
| Axial muscle weakness 0.516682460839202 0.6740835651904292 0.50025818751674 1.0 0.9799437588641844 6 P02545 1 |
| Neoplasm of the male external genitalia 0.425663032641742 0.6736789988712029 0.500515416411383 1.0 0.9799437588641844 10 Q13423 1 |
| Scaling skin 0.4568214510369331 0.6694848956914461 0.5031862125920388 1.0 0.9834314623734296 8 P02545 1 |
| Insidious onset 0.6978138093215064 0.6644698293779131 0.506389652837048 1.0 0.985804793444844 4 O60313,P04062 2 |
| Abnormality of the proximal phalanx of the thumb 0.6943245413003736 0.6643268252266454 0.5064811556521454 1.0 0.985804793444844 3 Q15233 1 |
| Motor axonal neuropathy 0.3872548882241345 0.6634388435550858 0.507049535262015 1.0 0.985804793444844 15 O95831,P09651,P22626,O60313,O15269 5 |
| Venous insufficiency 0.6049835672789785 0.6629907212098183 0.507336496746436 1.0 0.985804793444844 5 P21964 1 |
| Athetosis 0.4042880955682247 0.6625030934946192 0.5076488529286158 1.0 0.985804793444844 13 O14949,O43175 2 |
| Abnormality of the diencephalon 0.3447233373051788 0.6623765167416912 0.5077299497904995 1.0 0.985804793444844 25 O43924,Q9UMX1,Q9Y4P3,P35250,O43819,Q969G3 6 |
| Abnormality of the abdominal wall 0.2773118540986002 0.6618649857165 0.5080577534845578 1.0 0.985804793444844 101 P25054,O43175,Q10713,P48651,Q14739,Q9UHX1,Q9Y487,P51812,Q9NWM8,Q9UM00,Q96DF8,P04066,P35250,Q6NUK1,P21964,Q8NCH0,Q9BUB7,Q9Y276,Q12768,Q32P28,P08236,P16278,Q9UQ13,P09651,Q8NBU5,P16930,Q9H936,P07437,P02545,O75844,Q9Y4P3,Q04656,Q96HY6 33 |
| Distal amyotrophy 0.3059100777859072 0.65987449560993 0.5093343723101942 1.0 0.985804793444844 57 Q13510,Q96RL7,Q9BUK6,Q9BQT8,P43243,Q99720,O95140,P50570,O15269,P21912,Q9H0B6,P02545,Q96BR5,Q9NVI7,Q9Y4W6,Q5THJ4,Q8TD16,P31483,P35637 19 |
| Exercise induced muscle fatigue 0.6929454846799172 0.6592000818990329 0.5097672943460418 1.0 0.985804793444844 3 P53985 1 |
| Increased muscle fatiguability 0.6929454846799172 0.6592000818990329 0.5097672943460418 1.0 0.985804793444844 3 P53985 1 |
| Exercise induced muscle cramps 0.6039853747224468 0.6590414372395246 0.5098691600598171 1.0 0.985804793444844 5 P53985,P23786 2 |
| Nail dystrophy 0.3423049531265334 0.6582389066329525 0.5103846280399968 1.0 0.985804793444844 26 P16615,P53634,P02545,O75844 4 |
| Abnormal urine alpha ketoglutarate concentration 0.5130522530606735 0.658098154921919 0.5104750613943041 1.0 0.985804793444844 6 P00367,P21912 2 |
| Increased circulating antibody level 0.3955340784617642 0.6550745993320269 0.51241972514216 1.0 0.9869806836242576 14 P00813,Q14108,P04062 3 |
| Melena 0.6737949762389621 0.6545291519407016 0.5127709519712709 1.0 0.9869806836242576 2 P25054 1 |
| Prolonged bleeding following procedure 0.6737949762389566 0.6545291519406816 0.5127709519712838 1.0 0.9869806836242576 2 P49257 1 |
| Abnormality of the calcaneus 0.4688704364148239 0.6545131275492252 0.5127812723629719 1.0 0.9869806836242576 7 O43175 1 |
| Atelectasis 0.4394570591822637 0.6536006492217155 0.5133691258560271 1.0 0.9873845270483969 9 P21964 1 |
| Functional abnormality of the middle ear 0.2910762849733775 0.6520580572206782 0.5143637201471161 1.0 0.9873845270483969 81 Q9NWM8,P61978,O95831,P02545,P78318,O43924,O75844,O95202,Q7LGA3,P16435,O75845,P21964,P21912 13 |
| Abnormal fear anxiety related behavior 0.2761148548867195 0.6516754752303616 0.5146105468511921 1.0 0.9873845270483969 100 Q96RL7,Q9BUK6,Q03164,O43464,Q92804,P50995,Q15165,P35250,P21964,P43243,Q6DKK2,P03886,P17900,O76024,P06280,P09651,Q7LGA3,Q15233,P35637,O75503,P36551,P55795,P00403,P21912 24 |
| Abnormal lymphocyte morphology 0.3297607944975773 0.6515109695731645 0.514716698290032 1.0 0.9873845270483969 33 Q03252,P00813,P16278,O95470,P04066,Q13043,Q13432 7 |
| Abnormal circulating ceruloplasmin concentration 0.690849483570212 0.6514286921607297 0.5147697941412086 1.0 0.9873845270483969 3 Q8N511 1 |
| Gastrostomy tube feeding in infancy 0.3367945891355072 0.6502772815762905 0.5155131291837203 1.0 0.9883931050678584 29 P37268,Q01105,Q99720,P35637 4 |
| Heinz bodies 0.6720977596741212 0.647933961295182 0.5170276639521676 1.0 0.9893277174169192 2 P11413 1 |
| Talipes equinovarus 0.3031645927081032 0.6463993735758504 0.5180207459930004 1.0 0.9893396868142468 66 Q9Y487,Q9NWM8,P61978,Q8TAA9,Q9Y619,Q8TD16,Q15392,O95202,Q5H8A4,Q96A33,P16435,O75845,P21964,Q8NI60,Q8NCH0 15 |
| Varicose veins 0.6916965939696822 0.6425515153920334 0.5205151520935318 1.0 0.9922999524017332 4 P21964 1 |
| Gonosomal inheritance 0.3037577312631017 0.6411430818277594 0.521429725779635 1.0 0.992616955987709 63 O95831,P11413,O75027,P98175,P51812,P00558,O15344,P53701,P50402,P06280,P51571,Q15233,P38159,P55795,O60220,P78318,Q15904,P51572,Q04656 19 |
| Vertebral segmentation defect 0.3324804841187823 0.6405302973134293 0.5218278986085538 1.0 0.9929589494460924 31 P61978,Q8TAA9,Q9UM00,Q12768,Q9Y4P3,Q9Y619,O95202,Q9UHX1,Q9UMX1,P16435,P35250 11 |
| Retrognathia 0.2998646328094901 0.6398895894051636 0.5222443825576195 1.0 0.993334657011336 71 P02545,O43175,Q16625,Q9Y619,P78318,Q5SRE5,Q15392,O75844,P37268,Q9UHX1,P04062,Q7LGA3,Q2TAA5,Q8NCH0,P53701,Q4J6C6 16 |
| Facial asymmetry 0.335469782138479 0.6388819088897032 0.5228997578281505 1.0 0.993334657011336 29 Q9UHX1,Q8NCH0,Q03164,Q01105 4 |
| Hypometric saccades 0.687004400696135 0.6372383473461344 0.52396960282706 1.0 0.9937594965982784 3 P04062 1 |
| Aplasia hypoplasia of fingers 0.2934869119746358 0.6371944608688711 0.5239981852661697 1.0 0.9937594965982784 78 O95831,Q13510,P02545,P62847,O75844,P13073,Q9UHX1,Q5H8A4,P16435,Q08J23,Q03164 11 |
| Immunologic hypersensitivity 0.3349712049821999 0.6345978745200193 0.525690714759576 1.0 0.9945947999958392 29 Q01082,P00813,Q9NZ08,Q9UMX1,Q13043,P21964,Q08J23,P01889 8 |
| Spinal rigidity 0.3995991424276359 0.6342286825983082 0.5259315914541587 1.0 0.9945947999958392 13 P02545 1 |
| Penetrating foot ulcers 0.6683638832314927 0.6334978882998731 0.526408559416812 1.0 0.9945947999958392 2 O15269 1 |
| Trophic changes related to pain 0.6683638832314927 0.6334978882998731 0.526408559416812 1.0 0.9945947999958392 2 O15269 1 |
| Emg slow motor conduction 0.6683638832314927 0.6334978882998731 0.526408559416812 1.0 0.9945947999958392 2 O15269 1 |
| Abnormality of the ankles 0.30823664076637 0.6314009194148059 0.5277784150090794 1.0 0.99577405157601 43 Q9NZJ7,O75298,P02545,Q15043,Q9H2M9,O95140,P07602,O60220,O75844,Q15233,P35250,Q9NW15 12 |
| Trigonocephaly 0.3996718058352584 0.6313237064804664 0.5278288894177257 1.0 0.99577405157601 12 Q03252,P20700,Q5SRE5 3 |
| Progressive external ophthalmoplegia 0.4037685697547388 0.6305604476001171 0.5283279671935182 1.0 0.99577405157601 11 O60313,P00403,P03886 3 |
| Hyperthyroidism 0.4637756520288844 0.6303625518817455 0.5284574059714544 1.0 0.99577405157601 7 Q9BUK6,P21964,Q06787 3 |
| Sloping forehead 0.3132048987694869 0.6298969175371372 0.5287620297671434 1.0 0.99577405157601 41 Q15058,Q9HC21,Q9BSJ2,O43175,Q96EK5,Q16625,P23786,O75845,Q86XL3,P98175,Q08J23,Q9H936 12 |
| Diplopia 0.3553903721770527 0.62729787113472 0.5304639986452109 1.0 0.996404390698319 19 O14773,O43464,O15020,P01889,P18074,Q14671,O15460,P04062,Q9NW15,Q6PI48,P53007 11 |
| Laryngeal dystonia 0.6837776170046446 0.6253976991151406 0.5317100718876129 1.0 0.996404390698319 3 Q96RL7 1 |
| Duplication of hand bones 0.3015189177461082 0.6252369494973917 0.5318155544605512 1.0 0.996404390698319 51 P62847,Q10713,O43924,Q14739,Q9UHX1,Q5H8A4,O75845,P21964,Q15067 9 |
| Abnormal leukocyte physiology 0.3028613089424144 0.6234446532818995 0.5329923621767991 1.0 0.996404390698319 58 Q14108,P09601,P02545,O60220,P00813,P04062,Q9UJS0,P21964 8 |
| Distal muscle weakness 0.3023052029090546 0.6234282205621542 0.5330031578627525 1.0 0.996404390698319 63 O95831,Q96RL7,P22626,P00846,Q9BQT8,P43243,Q99720,O95140,P09651,P50570,O15269,Q6PI48,P36551,P02545,Q96BR5,Q8TD16,Q9Y4W6,Q5THJ4,P31483,P35637,Q04656 21 |
| Abnormal ovarian morphology 0.3415881134660601 0.6232881086616627 0.5330952106639737 1.0 0.996404390698319 24 Q03252,Q9Y4P3,P02545,P31751,P51809,P16435,P35250,Q15056,P57740,P21912 10 |
| Functional abnormality of the inner ear 0.3346926289435875 0.6226627956039207 0.5335061361287434 1.0 0.996404390698319 232 P55263,P09493,Q9NZJ7,Q9NR28,O95831,Q13510,Q02978,Q96AA3,O43676,Q15043,P48651,O95470,O75381,Q5XKP0,P00846,Q86Y39,O00165,O60313,O43681,Q2TAA5,Q9H061,Q15067,O43464,P51812,Q9NWM8,P82673,Q8WWY3,Q9NPL8,P61978,O95202,O15460,P04062,P35250,Q9Y6M9,P40855,P42892,P03886,O00429,O76024,Q01082,P42166,O95140,P06280,Q07021,Q7LGA3,O15269,Q8IUX1,P35637,P20700,Q9NZ08,P01889,P21912,P38159,P23634,P02545,O60220,P07602,P78318,P00403,Q15904,O75844,P51572,Q96CU9,Q5JRA6,O96000,Q9Y4P3,P42167,Q6UN15,Q04656,Q8WVX9 70 |
| Hyperkeratosis 0.3025394214743488 0.6215328551233749 0.5342490840879497 1.0 0.996972418109094 56 Q9NWM8,P02545,O75844,P04062,P04066,P51648,P42167,O75431,P53634,P16615 10 |
| Abnormality of limb epiphysis morphology 0.3426686239932006 0.6200734838132886 0.5352094086546526 1.0 0.9975394261811996 23 P82673,P51812,O95831,O95202,Q7LGA3,Q5JRA6,P16435,Q04656 8 |
| Limb undergrowth 0.3097317368535529 0.6196142625406107 0.5355117744713329 1.0 0.9975394261811996 42 O75718,O43175,Q15392,P48735,Q14739,Q03164,O00116 7 |
| Recurrent aspiration pneumonia 0.4613798903730426 0.6190559305306785 0.5358795138377321 1.0 0.9975394261811996 7 P78318,P04062,Q13510 3 |
| Inability to walk 0.2847448988502754 0.6179951577105315 0.5365785305781987 1.0 0.9975394261811996 84 Q13510,Q15043,Q96RL7,P00846,Q9BUK6,P61978,O00429,Q99720,O95140,O15269,P35637,Q6PI48,O75503,O14949,Q96N66,O43292,O60220,P21912,Q96CU9,Q8WVX9 20 |
| Abnormal coronary artery morphology 0.5037469574382523 0.6174366417848924 0.536946759680861 1.0 0.9975394261811996 6 P02545 1 |
| Hepatic encephalopathy 0.6844429347826211 0.6167977394447143 0.5373681432180974 1.0 0.9975394261811996 4 Q9UJS0,A2RRP1,P09622 3 |
| Focal motor seizure 0.3537652079966465 0.615406291030985 0.5382864378221415 1.0 0.9975394261811996 19 Q01105,Q9H936,Q9UBB4,P21912,O75503 5 |
| Scaphocephaly 0.683845772093159 0.6146894530512417 0.5387598263848896 1.0 0.9975394261811996 4 P40855,Q969X5 2 |
| Abnormality of metacarpal epiphyses 0.5924862451766261 0.6139106338431521 0.539274382850015 1.0 0.9975394261811996 5 O95202,P16435 2 |
| Intestinal hypoplasia 0.6835872988865233 0.613777487158708 0.5393623758963673 1.0 0.9975394261811996 4 P02545 1 |
| Optic atrophy 0.3118378999509331 0.6136731764725432 0.5394313170343916 1.0 0.9975394261811996 176 Q9NZJ7,Q7KZN9,Q15043,O43505,O75381,O00330,Q5XKP0,P00846,Q86Y39,O60313,Q5H8A4,P50897,Q9H061,Q15067,Q9H490,P51812,O95202,O15460,Q6P4Q7,P21964,P40855,Q9HC21,P03886,O00429,Q9BSJ2,Q12768,Q9P0J0,O76024,O95140,P16278,P06280,Q9H2M9,O43819,Q6PI48,P01889,Q96PU5,Q9H0B6,O43292,Q8TCJ2,O60220,P07602,Q3ZCQ8,P00403,Q9Y4W6,Q9NR50,P51572,Q5KU26,Q96CU9 48 |
| Secondary growth hormone deficiency 0.6804753820033842 0.6133462081916763 0.5396474458803846 1.0 0.9975394261811996 3 Q9UMX1,Q969G3 2 |
| Skin dimple 0.334734056822915 0.6123935987256547 0.5402773759986332 1.0 0.997570254586668 27 P53701,P61978,O95202,Q5H8A4,Q08J23,Q03164 6 |
| Abnormal urine cytology 0.3195834741508608 0.6110980706159115 0.5411346570546942 1.0 0.9983418114724038 37 Q03252,P49257,Q14108,P09601,Q8N1F7,Q01082,P06280,O15460,P04062,P21912,Q6UN15,P01889 12 |
| Hemorrhage of the eye 0.4142128281940158 0.6105947947232733 0.5414678695706998 1.0 0.9985511360914204 10 Q9Y487,O75533 2 |
| Abnormal oral mucosa morphology 0.3014812242937754 0.6078831669733518 0.543264964597332 1.0 1.0 57 Q14739,O75431,Q14108,Q9UM00,P04062,P35250,Q92990,P49257,P08236,P16278,Q15392,P53634,P20700,Q9NZ08,P01889,Q5JRA6,Q9Y4P3,O75845,Q6UN15 19 |
| Abnormality of humoral immunity 0.3003218685806667 0.6073244101426255 0.5436356418807624 1.0 1.0 52 Q03252,Q14108,P09601,P02545,O60220,P00813,Q15904,P04062,Q9UJS0 9 |
| Bilateral cleft lip 0.6612355736591952 0.606228258814442 0.5443631901794705 1.0 1.0 2 O60716 1 |
| Perimembranous ventricular septal defect 0.5007616951066377 0.6044946208791174 0.5455148444271352 1.0 1.0 6 Q9UHX1 1 |
| Abnormal ilium morphology 0.361984621137036 0.6042175507847884 0.5456990138348954 1.0 1.0 17 P51812,O95831,Q8TAA9,P16278,P01889 5 |
| Decreased circulating acth level 0.6807065217391338 0.603637077383347 0.5460849563825416 1.0 1.0 4 P10644,Q9UMX1,Q969G3 3 |
| Abnormal nerve conduction velocity 0.3169264212572861 0.6030180819811012 0.5464966602810164 1.0 1.0 38 P02545,Q99720,O95831,P07602 4 |
| Generalized osteosclerosis 0.6772882795787307 0.6017799729084357 0.5473206078234785 1.0 1.0 3 Q15392 1 |
| Torsion dystonia 0.6588594704684249 0.5972261516617714 0.550356401347279 1.0 1.0 2 P04350 1 |
| Aplasia hypoplasia of the optic nerve 0.3446272058470818 0.5969758609565221 0.550523497080855 1.0 1.0 21 Q15058,P61978,P25054,Q9NVI7,P37268,Q9UHX1 6 |
| Abnormality of muscle size 0.3138415962724068 0.5969697206737706 0.5505275966881307 1.0 1.0 183 P55263,P50416,O95831,Q13510,O43175,Q10713,O43505,Q96RL7,P22626,O60313,Q9BUK6,Q9Y487,Q03252,P51812,Q9NWM8,Q9NPL8,P61978,Q92804,Q9BQT8,Q6P4A7,P50995,Q15165,P04066,P35250,P43243,Q6DKK2,Q9HC21,O00429,P50402,Q12768,O75298,P07686,Q99720,O95140,P16278,P09651,P50570,Q7LGA3,O15269,P35637,Q13043,O43819,P10253,Q6PI48,P21912,O00400,Q9H0B6,P02545,Q96BR5,Q9NVI7,Q8TD16,O14979,Q5THJ4,P31483,Q9Y4W6,Q96A33,Q9Y4P3 57 |
| Diminished motivation 0.3382473843279765 0.5966109257183608 0.5507671750060785 1.0 1.0 24 P17900,Q96RL7,Q9UBB4,P04062,P06865,P35914,P35637,P35610 8 |
| Urticaria 0.4280353185979911 0.5943307941207359 0.5522908861399471 1.0 1.0 9 P51648 1 |
| Furrowed tongue 0.6778676901912553 0.593687748471013 0.5527209788738319 1.0 1.0 4 P61978,P21912 2 |
| Abnormality of peripheral nerves 0.3094379699764483 0.5916900677818137 0.5540581487139644 1.0 1.0 41 Q9NZJ7,O95831,P02545,Q99720,Q9Y619,Q96RL7,O95140,P07602,P50570,Q9UBB4,P43243 11 |
| Dysphonia 0.3251402368217145 0.5916235917182617 0.5541026724161795 1.0 1.0 32 Q13510,Q02978,Q96RL7,O95140,Q15233,Q9Y4P3,P35250,P20700,Q6DKK2,P21912 10 |
| Steroid resistant nephrotic syndrome 0.5865293698637816 0.5908135273956162 0.5546453701971412 1.0 1.0 5 Q8WUM0,Q9BW27,Q8N1F7 3 |
| Bilateral tonic clonic seizure with generalized onset 0.4408829987879561 0.5903733009322362 0.5549404062717507 1.0 1.0 8 P04062,Q13510 2 |
| Lipoatrophy 0.3502845112359206 0.5900200001636595 0.5551772409483409 1.0 1.0 19 P09493,Q03252,P02545,P04066,P42167,O75431,Q6NUK1 7 |
| Increased serum iron 0.6740237691001736 0.590000895222097 0.5551900493265616 1.0 1.0 3 Q6PGP7,Q9Y276 2 |
| Narrow palpebral fissure 0.366024681429745 0.5896903734180591 0.5553982502996164 1.0 1.0 16 Q03164 1 |
| Connective tissue nevi 0.6568228105906222 0.5895460921925705 0.555495002025117 1.0 1.0 2 Q6NUK1 1 |
| Azoospermia 0.4103210914269002 0.589343250940582 0.5556310366977428 1.0 1.0 10 Q13423 1 |
| Respiratory insufficiency 0.3075869006432945 0.588757069083999 0.556024248604462 1.0 1.0 170 Q9NZJ7,O95831,Q13510,Q96AA3,O43676,Q9Y619,O75381,Q5XKP0,Q86Y39,Q14739,Q70HW3,P23786,Q08J23,Q03001,Q15067,O43464,Q9NPL8,O43772,Q92804,Q5SRE5,P50995,Q9BT22,Q15165,Q6NUK1,Q9Y6M9,P43243,P40855,P03886,P53701,Q9BUB7,P50402,O76024,O95140,P06280,P09651,Q8IUX1,O43819,P10253,P36551,P02545,P07602,Q8TD16,O75208,P33991,O96000,P35637,Q96CU9 47 |
| Synostosis involving digits 0.6761929277361577 0.5878388111441886 0.5566404905915336 1.0 1.0 4 P48651,Q15233 2 |
| Abnormality of coordination 0.3530166604226162 0.5876688630573218 0.5567545790819606 1.0 1.0 300 O95831,O43676,Q96RL7,O00330,Q5XKP0,P00846,P50897,Q9Y487,Q14108,P00558,O15460,Q92643,P03886,O00429,Q12768,O75298,Q01082,Q99720,O95140,O15118,Q8IV08,Q9UMX1,Q6PI48,P01889,O75503,O14949,P07437,Q5JRX3,P07602,Q96BR5,P00403,Q9NVI7,P31483,O96000,P35637,Q9Y4P3,Q13510,P25054,P04350,Q9Y619,O95470,Q86Y39,Q96D71,Q5H8A4,O43681,O75027,Q9BVA1,Q969G3,O14773,Q9NX14,O43924,Q6DKK2,Q9NQZ5,Q9P0J0,P16278,Q8IUX1,O43819,Q9NZ08,Q01105,Q96CU9,Q9NW15,Q7KZN9,Q10713,Q15067,Q9NPL8,O95202,Q9UBB4,P04062,Q9Y6M9,P40855,P35610,O76024,P07686,P20700,P55795,Q5THJ4,P21912,Q5T8D3,Q9NZJ7,Q96AA3,O75381,O00165,O60313,Q9BUK6,Q2TAA5,Q03252,P09622,Q6P4A7,P35250,P35670,Q8NI60,Q9BUB7,Q15233,Q9H936,O43292,Q9Y4W6,P35914 97 |
| Pleuritis 0.6725678434537662 0.5847702892154378 0.5587021843675719 1.0 1.0 3 Q9NZ08 1 |
| Neuroinflammation 0.6725678434537662 0.5847702892154378 0.5587021843675719 1.0 1.0 3 Q9NZ08 1 |
| Pulmonary embolism 0.6725678434537662 0.5847702892154378 0.5587021843675719 1.0 1.0 3 Q9NZ08 1 |
| Orchitis 0.6725678434537662 0.5847702892154378 0.5587021843675719 1.0 1.0 3 Q9NZ08 1 |
| Aplasia hypoplasia of the sacrum 0.6719368369850754 0.582507726651937 0.5602247385526451 1.0 1.0 3 P04066 1 |
| Poor gross motor coordination 0.6745530416787898 0.5821267815704875 0.5604812869095279 1.0 1.0 4 O75503 1 |
| Abnormal labia morphology 0.3518224584888578 0.5798459884397171 0.5620184816540454 1.0 1.0 18 P02545,Q9Y619,P16435,Q9H2M9,Q6NUK1 5 |
| Abnormal circulating progesterone level 0.4950127273734674 0.5797230857912816 0.5621013726263882 1.0 1.0 6 P16435 1 |
| Decreased circulating progesterone 0.4950127273734674 0.5797230857912816 0.5621013726263882 1.0 1.0 6 P16435 1 |
| Diminished movement 0.3583797239135408 0.5793409683697897 0.5623591272099171 1.0 1.0 17 P04062,O95831 2 |
| Acanthosis nigricans 0.4084341745133046 0.5790779801476722 0.5625365571959571 1.0 1.0 10 P02545,O75431 2 |
| Abnormal circulating estrogen level 0.408103786181803 0.5772832802804997 0.5637481064798147 1.0 1.0 10 Q969G3,P51809,Q9UMX1,P16435 4 |
| Abnormal cortical bone morphology 0.3641281570252487 0.5770355317609266 0.5639154529530708 1.0 1.0 16 Q86XL3,P40855,Q15058 3 |
| Neuroendocrine neoplasm 0.4076791548669517 0.5749778399854949 0.5653062841274274 1.0 1.0 10 P02545,P21912,Q02978 3 |
| Alkalosis 0.6718880351509782 0.5728764821563571 0.5667283292347935 1.0 1.0 4 Q9Y619 1 |
| Thickened calvaria 0.4371380095478071 0.5720096716334743 0.5673154223860792 1.0 1.0 8 P48651,P16278,Q15233 3 |
| Multifocal epileptiform discharges 0.3376989895664535 0.5714268739292313 0.5677103165862052 1.0 1.0 22 Q9UBX3,Q96N66,O75503 3 |
| Juvenile aseptic necrosis 0.6714034385286527 0.571198805946979 0.5678648875367327 1.0 1.0 4 Q9Y619 1 |
| Abnormal shape of the frontal region 0.2682182434549181 0.5706584507210136 0.5682311886243494 1.0 1.0 95 P55263,Q9Y487,Q9Y619,O43924,P16278,Q15392,P15586,P13073,Q14739,O95202,Q5H8A4,P16435,O75431,Q15067 14 |
| Peptic ulcer 0.3926426820856122 0.566870287026857 0.5708023126759989 1.0 1.0 11 P35250,P04062,Q9Y4P3,O76024 4 |
| Intracranial hemorrhage 0.335616024547725 0.5646771632890597 0.5722933699510369 1.0 1.0 23 P49257,Q02978,P02545,O75844,Q9H845,P04062,Q9UMX1,P23786,Q04656,P21912 10 |
| Abnormal pulmonary interstitial morphology 0.325157780445974 0.5624913374984342 0.5737813039817437 1.0 1.0 30 Q14108,P09601,Q13510,P04062,Q13432 5 |
| Bile duct proliferation 0.666213921901524 0.5621117945719587 0.5740398528758002 1.0 1.0 3 Q5XKP0,P51659 2 |
| Unconjugated hyperbilirubinemia 0.6662139219015228 0.5621117945719541 0.5740398528758033 1.0 1.0 3 O14936,P11413 2 |
| Intrauterine growth retardation 0.3120454020245887 0.5616672386072715 0.5743427595278896 1.0 1.0 184 O43676,O43175,Q9Y619,Q86Y39,Q9UHX1,Q5H8A4,O75027,Q08J23,Q03164,Q9Y487,Q9NPL8,Q9Y584,O43924,Q5SRE5,O95202,Q9BT22,P37268,P04062,Q9UJS0,P21964,P03886,P16278,Q15392,Q8IUX1,P02545,O75844,O75208,P51572,O96000,O75845,Q96CU9 31 |
| Spina bifida 0.3198211540039218 0.5614402954158076 0.5744974207494573 1.0 1.0 33 O75845,Q8TAA9,O43175,Q10713,Q9UHX1,P35250,P21964,Q08J23 8 |
| Abnormality of cardiovascular system electrophysiology 0.2743110033742344 0.5610026208017911 0.5747957505605936 1.0 1.0 107 P09493,P50416,Q9NZJ7,O75381,P00846,O75880,P23786,Q03001,O43464,Q9H490,Q16836,O43772,O15460,P04062,P35250,P40855,P42892,P03886,P53701,Q9BUB7,P50402,P06280,Q9H2M9,O43819,P10253,P01889,P21912,P36551,P02545,P07602,P00403,O75208,Q9H845,P35914,Q9Y4P3 35 |
| Abnormality of the pulmonary veins 0.4900536457495279 0.5585253098566488 0.5764857265120322 1.0 1.0 6 Q15392 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.4899168730027858 0.557943005337871 0.5768833038552545 1.0 1.0 6 P02545 1 |
| Abnormality of abdominal situs 0.6670021090875984 0.5560242318352512 0.5781942896208534 1.0 1.0 4 Q5H8A4 1 |
| Aplasia hypoplasia of the pubic bone 0.6670021090875984 0.5560242318352512 0.5781942896208534 1.0 1.0 4 Q5H8A4 1 |
| Rib segmentation abnormalities 0.6670021090875984 0.5560242318352512 0.5781942896208534 1.0 1.0 4 Q5H8A4 1 |
| Hypoplastic pubic rami 0.6670021090875984 0.5560242318352512 0.5781942896208534 1.0 1.0 4 Q5H8A4 1 |
| Abnormality of fundus pigmentation 0.6641913405155166 0.5549582841753898 0.5789231942139039 1.0 1.0 3 Q9Y619 1 |
| Natal tooth 0.4474521808300126 0.5540305173854355 0.5795579605773098 1.0 1.0 7 P02545 1 |
| Chondrocalcinosis 0.5768258047046172 0.5536412982094918 0.5798243566391961 1.0 1.0 5 P02545,P35670 2 |
| Abnormal odontoid tissue morphology 0.3133217933346413 0.5515148772815675 0.5812807709972034 1.0 1.0 37 Q9Y4P3,P25054,P48651,P16278,Q6P4Q7,Q5JRA6,P51648,Q9HC07,P35250,P21964,P53701 11 |
| Parkinsonism with favorable response to dopaminergic medication 0.4030986288648758 0.5501972010296158 0.5821841231497504 1.0 1.0 10 Q9NZJ7,P07602,P04062 3 |
| Abnormal thyroid morphology 0.3145974509611488 0.5486704927599 0.5832315994667514 1.0 1.0 36 Q04656,P25054,P02545,P00813,Q9UNW1,P48735,Q13043,O75874,P42892,P21912,Q8TAQ2,Q969G3 12 |
| Abnormal gallbladder morphology 0.3233932087236359 0.547320127288891 0.5841588184062321 1.0 1.0 30 Q9NZJ7,O75845,P22830,Q9Y4P3,P07602,P04062,Q96A33,Q13043,P35250,P21964,P40855 11 |
| Neurogenic bladder 0.574675179653304 0.5454831892935121 0.5854212392915503 1.0 1.0 5 Q8TAA9 1 |
| Abnormal endocardium morphology 0.3686205532325307 0.543685760378832 0.5866577329639369 1.0 1.0 15 P06280,P04062,Q9Y4P3,P35250,Q15056,Q9NZ08,P01889 7 |
| Postaxial hand polydactyly 0.3845558975106087 0.5428836146481276 0.5872099382118421 1.0 1.0 12 O75845,Q14739,O43924 3 |
| Abnormal sternal ossification 0.5738695306801344 0.5424348965701761 0.5875189452053569 1.0 1.0 5 Q9Y619 1 |
| Aplasia hypoplasia of the ribs 0.3373854712572403 0.5422651823581844 0.5876358374799076 1.0 1.0 21 Q8TAA9,Q9Y619,Q14739,Q9UHX1,Q03164 5 |
| Abnormality of the menstrual cycle 0.2919164772244026 0.5417089353810285 0.5880190332667623 1.0 1.0 47 O00429,P49257,Q9UJS0,P02545,P31751,P51809,O75844,Q9NR50,Q9UMX1,P16435,Q9BUK6,P35670,Q6UN15 13 |
| Occipital encephalocele 0.5732778259660704 0.5401988424612651 0.5890599108739507 1.0 1.0 5 Q10713,O43505 2 |
| Hypoventilation 0.3839905715522519 0.5396124943264391 0.5894642982506355 1.0 1.0 12 O43819 1 |
| Abnormality of somatosensory evoked potentials 0.5730138861784233 0.5392021678498669 0.5897473646891389 1.0 1.0 5 Q9NQZ5,O60220 2 |
| Abnormal blood inorganic cation concentration 0.3147110439845858 0.5366362596945754 0.5915188925717283 1.0 1.0 35 Q02978,P51798,P05023,Q96DF8,Q15043,Q4J6C6,P61457,Q9Y4P3,P35250,P21964,P21912 11 |
| Renal tubular atrophy 0.6606657608695671 0.5343832124023015 0.593076431257628 1.0 1.0 4 Q9NQH7,P57740,Q12965 3 |
| Hyperactive patellar reflex 0.4291810188511237 0.5333208272902328 0.5938115127663743 1.0 1.0 8 P13073,P21912 2 |
| Bifid ribs 0.6603260869565263 0.5332301322818399 0.5938742854245807 1.0 1.0 4 Q9UMX1,Q96T58,Q9UM00 3 |
| Retinal detachment 0.3825971305125297 0.5315621866020978 0.595029260156148 1.0 1.0 12 P04439,O43505,Q8NCH0 3 |
| Cranial hyperostosis 0.386088849736107 0.5298151722083816 0.5962400847245388 1.0 1.0 11 P51812,Q15043,P48651,P09651,P22626,P18074 6 |
| Poor wound healing 0.5700434120218559 0.528017728041838 0.5974870315118146 1.0 1.0 5 P04062,O15269,O00170 3 |
| Abnormal enchondral ossification 0.3293358957708098 0.5260588506553763 0.5988473180940828 1.0 1.0 24 Q96HY6,Q9Y619,O95202,Q14739,P40855,O00116 6 |
| Oculomotor apraxia 0.3316182910141248 0.524677659161745 0.5998072904565892 1.0 1.0 22 O00429,O14773,O43292,Q10713,O43924,Q9Y4W6,P04062,Q9UMX1 8 |
| Abnormal circulating follicle stimulating hormone concentration 0.48180120270983 0.5236274863069647 0.6005376600566574 1.0 1.0 6 P51809,Q9UMX1,P16435 3 |
| Abnormal urinary electrolyte concentration 0.3499500830837802 0.5216882112537341 0.6018874340139009 1.0 1.0 17 P05023,Q13423,Q9Y4P3,P35250,P35670 5 |
| Elevated urinary delta aminolevulinic acid 0.6534119469639534 0.5173395610730112 0.6049191422252187 1.0 1.0 3 P16930 1 |
| Atrial arrhythmia 0.4258587298147736 0.5173095496397142 0.6049400887912113 1.0 1.0 8 P02545 1 |
| Ankyloblepharon 0.6371350984385546 0.517132277155143 0.605063823263787 1.0 1.0 2 P18074 1 |
| Pain in head and neck region 0.5665616155648929 0.5149856563381712 0.6065630432603601 1.0 1.0 5 Q15043,Q9UMX1,O75533 3 |
| Scapular winging 0.3302238773397028 0.5140227146682228 0.6072361097894494 1.0 1.0 22 Q9Y487,P50402,P02545 3 |
| Abnormal visual field test 0.6542664213323657 0.5127839149497277 0.6081024826226995 1.0 1.0 4 P00846,Q9UMX1 2 |
| Rickets 0.4248886048260487 0.5126509789433625 0.6081954861028933 1.0 1.0 8 O43175 1 |
| Decreased circulating androgen concentration 0.4248192008802793 0.5123179962272117 0.6084284722632343 1.0 1.0 8 P51809,Q9UMX1,P16435 3 |
| Abnormality of skeletal maturation 0.2773743546597 0.5116781468717421 0.6088762828692955 1.0 1.0 84 Q14108,O95831,Q9Y619,P13073,O95202,Q5H8A4,P16435,Q15800,Q08J23,Q03164 10 |
| Weak cry 0.3958279011697984 0.511219029601256 0.6091976950914202 1.0 1.0 10 Q13510,O75208 2 |
| Chromosomal breakage induced by ionizing radiation 0.6513678023315557 0.5103055134109553 0.6098374407389928 1.0 1.0 3 Q9UMX1 1 |
| Abnormality of thyroid physiology 0.2912295295646195 0.5085248753294866 0.6110852986401383 1.0 1.0 68 P12235,P25054,P00813,O95470,O60313,Q9BUK6,Q969G3,P61978,P04066,P35250,P21964,P03886,O00429,O76024,Q13423,Q07021,Q9UMX1,Q15056,Q96T58,P00403,Q06787,Q9Y4P3 22 |
| Hamartomatous polyposis 0.6506875391302683 0.5079719676457223 0.6114730023677795 1.0 1.0 3 P21912 1 |
| Anhidrosis 0.5644246668860468 0.5070298232345513 0.6121338931572369 1.0 1.0 5 P20700,P04066 2 |
| Hyperpituitarism 0.3413533729609754 0.5059286741803122 0.6129067219218125 1.0 1.0 18 P51809,P33991,Q9UMX1,P16435,Q9BUK6,Q06787,P57740,P10644,Q969G3 9 |
| Webbed neck 0.3135932616388447 0.5057033495066867 0.6130649165474558 1.0 1.0 33 P62847,O75844,P02545,Q03164 4 |
| Hypoplasia of the frontal lobes 0.4368136599625478 0.505285289569963 0.6133584733630078 1.0 1.0 7 Q86XL3 1 |
| Foot dorsiflexor weakness 0.3197502229414705 0.5052348093031372 0.6133939242152187 1.0 1.0 29 P02545,Q14739,Q99720,Q9BQT8 4 |
| Abnormality of lower limb joint 0.2971785754238653 0.5043740431177848 0.6139985548652644 1.0 1.0 159 Q9NZJ7,O95831,Q13510,O75718,Q15043,Q9Y619,Q9UHX1,P23786,O75431,P16435,Q9Y487,Q03252,Q9Y584,O95202,P37268,P35250,P21964,O75298,P16278,Q7LGA3,Q15233,Q86XL3,P02545,O60220,P07602,Q8TD16,O75844,Q96A33,P21912,Q9NW15,Q96HY6 31 |
| Male reproductive system neoplasm 0.3706141184971354 0.5019519585608322 0.6157013149583703 1.0 1.0 14 Q13423 1 |
| Hydrops fetalis 0.302502238246016 0.5007829090422627 0.616523915137231 1.0 1.0 40 Q13510,P10619,P62847,Q14739,Q9BT22,O96000 6 |
| Aplasia hypoplasia of the cerebral white matter 0.4357305100245544 0.5003727065751407 0.6168126677849326 1.0 1.0 7 P03886 1 |
| Spondyloepimetaphyseal dysplasia 0.5615945074045285 0.4965443297602929 0.6195104192800229 1.0 1.0 5 O95831 1 |
| Truncal ataxia 0.3399325505235869 0.4960000271902871 0.6198943917616488 1.0 1.0 18 Q6PI48,Q5THJ4,Q9BUK6,Q9NW15,O75503 5 |
| Abnormality of urine homeostasis 0.3065322382895828 0.4951242169484283 0.6205124404038462 1.0 1.0 181 Q02978,P11413,Q9Y619,O95470,P00367,O00330,Q5XKP0,P00846,O75880,P48735,P23786,O75431,Q03252,O43464,Q14108,P09601,O43772,Q8NFH4,Q16836,P09622,P00558,P05023,Q9BQT8,P61457,P15586,O15460,P04062,P04066,Q9UJS0,P35670,P35250,P35610,P03886,Q9HC21,Q9BUB7,P49257,Q8N1F7,Q01082,P54802,P08236,Q13423,P16278,P06280,P10253,P16930,P01889,P21912,P36551,P02545,Q3ZCQ8,P00403,Q9NVI7,P53985,Q9H845,P35914,Q5JRA6,O96000,Q9Y4P3,Q6UN15,Q4J6C6 60 |
| Acanthocytosis 0.5609360616245569 0.4941133465984736 0.6212261325610122 1.0 1.0 5 O75845 1 |
| Gingival overgrowth 0.3202125293027029 0.4925524530133527 0.6223288509166989 1.0 1.0 27 O75845,Q9UM00,P08236,P16278,Q14739,Q6UN15,Q9Y4P3,P35250,P20700 9 |
| Esophageal carcinoma 0.6458404074702929 0.4914518635354737 0.6231068899945043 1.0 1.0 3 P25054,Q8N9N2 2 |
| Abnormality of the antihelix 0.3919180624971641 0.4904559391580508 0.6238113010544903 1.0 1.0 10 Q9H2M9,Q08J23,Q5SRE5,P16435 4 |
| Keratoconjunctivitis 0.4197524268242348 0.488119226293149 0.6254653935017607 1.0 1.0 8 Q14739 1 |
| Abnormal thalamic mri signal intensity 0.6467267797420149 0.4876846704189173 0.6257732115994268 1.0 1.0 4 Q9UMX1 1 |
| Abnormality of the middle ear 0.2755417605639643 0.4866300041531024 0.6265205567568275 1.0 1.0 118 O95831,P00813,Q14739,Q5H8A4,P16435,Q9NWM8,P61978,O43924,O95202,P21964,Q8N5M9,Q7LGA3,Q13432,P02545,P78318,O75844,Q96A33,P21912,O75845 19 |
| Heart block 0.3265630694118001 0.4861774471476807 0.6268413600311609 1.0 1.0 22 P02545,P50402,O43772,P23786 4 |
| Craniosynostosis 0.3103291890254873 0.485819487878 0.6270951559807663 1.0 1.0 34 Q9Y619,Q8NCH0,P16435,P21964,Q08J23 5 |
| Abnormal circulating gonadotropin concentration 0.3746153665740702 0.4858133550620336 0.6270995045803947 1.0 1.0 12 P51809,P16435,Q06787,Q9UMX1,P57740,Q969G3 6 |
| Pericarditis 0.5585823939216501 0.4854502961620605 0.6273569620624184 1.0 1.0 5 O15460,Q9NZ08 2 |
| Abnormality of complement system 0.64378900282609 0.4845179116318278 0.6280183556761498 1.0 1.0 3 P02545 1 |
| Gastroesophageal reflux 0.2757666974091431 0.4818303504512247 0.6299264670708238 1.0 1.0 119 Q9NZJ7,P12235,O43175,Q9Y619,P00846,Q14739,Q9UHX1,P16435,Q03164,Q9Y584,O95202,P35250,Q6NUK1,P21964,O15344,Q9UGP8,Q12768,P51571,Q8WVM7,O15269,Q15233,Q8NBU5,Q8IZA0,Q15056,Q96PU5,Q96T58,Q01105,P55795,P07602,Q96A33,Q06787,Q9Y4P3,Q7L0Y3,Q96F07,Q04656 35 |
| Progressive microcephaly 0.3042091514033545 0.4811326692000243 0.6304222106164554 1.0 1.0 38 Q9Y487,Q15043,Q8WVX9,P50897,Q9BT22,Q5T8D3,Q5KU26,Q9HC21,Q9H936 9 |
| Bilateral single transverse palmar creases 0.3772998972072877 0.4807544828010918 0.6306910038603659 1.0 1.0 11 P40855,Q5SRE5 2 |
| Atonic seizure 0.3347614169055986 0.4784389814556929 0.6323377942754793 1.0 1.0 19 O43175,Q01105,Q13510,Q9H936 4 |
| Abnormal aortic valve physiology 0.3053522573400672 0.4766042076473585 0.6336439866376948 1.0 1.0 37 Q12768,Q01082,P02545,P16278,Q9UQ13,O75844,Q9UHX1,P04062,Q9Y4P3,P35250,Q15056,Q9NZ08,Q96PU5,P01889 14 |
| Ophthalmoparesis 0.2871236628852212 0.4765597529175225 0.6336756485615789 1.0 1.0 71 Q7KZN9,Q10713,P00846,O60313,Q86U42,Q969G3,O15460,P04062,P03886,O00429,Q9P0J0,O76024,P50570,Q07021,Q9UMX1,O43819,P01889,P00403,Q9Y4W6,P21912,Q96CU9 21 |
| Abnormality of the glabella 0.4302408863450416 0.4756289056676747 0.6343387784671544 1.0 1.0 7 Q01082,O95202,O60762 3 |
| Neoplasm of the oral cavity 0.3756944362440004 0.4718787642922884 0.6370133264406244 1.0 1.0 11 P02545,O43924,P25054,Q9UMX1 4 |
| Abnormality of neutrophil morphology 0.6410665782895485 0.4691023425075061 0.638996484766045 1.0 1.0 4 Q14739 1 |
| Hemoglobinuria 0.6390492359931941 0.4686318330360929 0.6393328193857972 1.0 1.0 3 O14936,P11413 2 |
| Polar cataract 0.6407942220643484 0.4682140172813931 0.6396315490945343 1.0 1.0 4 P08670,Q7LGA3 2 |
| Decreased absent ankle reflexes 0.374778538801481 0.466827943243002 0.6406229819726783 1.0 1.0 11 O60313,P12235,O95140,Q96RL7 4 |
| Abnormal anatomic location of the heart 0.3872971305670694 0.4661103513060001 0.6411365142949976 1.0 1.0 10 P02545,O75844 2 |
| Abnormality of the clitoris 0.3327713750321377 0.4643621041374239 0.6423883359842406 1.0 1.0 19 Q9NX14,Q9Y619,P51809,O75381,P16435,Q9H2M9,P40855,P53701 8 |
| Abnormality of the foot musculature 0.6373260250531982 0.4629037709442996 0.6434333444247233 1.0 1.0 3 O14979 1 |
| Advanced eruption of teeth 0.3864939045847164 0.4619009922595407 0.6441523224134302 1.0 1.0 10 P02545 1 |
| Hypoplastic fingernail 0.34555089068922 0.4551296750109523 0.6490159502233477 1.0 1.0 16 P51812,Q12768,P48651,Q14739,O75431,Q969G3 6 |
| Beaking of vertebral bodies 0.4125598321934407 0.4541634202385562 0.6497112092065409 1.0 1.0 8 P08236,P16278,P04066 3 |
| Abnormal cry 0.3682611418571068 0.4498792209131205 0.6527975311769627 1.0 1.0 12 Q13510,O75208 2 |
| Congenital hip dislocation 0.3194760979682338 0.4492615978317031 0.6532429567766769 1.0 1.0 24 Q9Y487,Q8TD16 2 |
| Abnormal dermatoglyphics 0.2880277660435091 0.4492444639029485 0.6532553154132938 1.0 1.0 61 P25054,O75381,Q9UHX1,O75431,P98175,Q9Y487,P51812,P61978,Q5SRE5,O95202,P35250,Q6NUK1,P40855,Q8NCH0,Q01082,Q9UQ13,Q8WVM7,Q9H2M9,Q9Y4P3 19 |
| Extramedullary hematopoiesis 0.6328298926165844 0.448080685590375 0.6540949667298575 1.0 1.0 3 Q14739 1 |
| Cutaneous photosensitivity 0.3329407894035801 0.4475536217703506 0.654475380746977 1.0 1.0 18 P37268,Q14108,Q08J23 3 |
| External ophthalmoplegia 0.3303496427984593 0.4473121374161949 0.6546497046777271 1.0 1.0 19 O60313,P00403,P03886,P21912 4 |
| Hyperinsulinemic hypoglycemia 0.4620655355421821 0.442343386796651 0.6582407393745358 1.0 1.0 6 P53985,Q16836,P00367 3 |
| Elevated serum acid phosphatase 0.6323004072184133 0.4407875288120541 0.6593668228837406 1.0 1.0 4 Q9NZJ7,P07602 2 |
| Carcinoma 0.4612508497620767 0.4390611147299789 0.6606172539128319 1.0 1.0 6 Q07864,P25054,P51532,P43246,P28340 5 |
| Gray matter heterotopia 0.3133101820927511 0.4366996150215975 0.6623292084799 1.0 1.0 27 Q86XL3,Q96T58,Q15058,P61978,Q9BSJ2,O43505,Q6NUK1,Q06787,Q2TAA5,Q9BVA1,Q96PU5 11 |
| Functional abnormality of male internal genitalia 0.3162860262470837 0.4349708863140873 0.6635835599107671 1.0 1.0 25 O76024,Q9Y4P3,P51809,Q13423,P04062,P16435,P35250 7 |
| Decreased circulating igg level 0.3962483256028134 0.4345317573269966 0.6639023387202556 1.0 1.0 9 P00813 1 |
| Hyperacusis 0.4082818372471448 0.4342044016654089 0.6641400170156886 1.0 1.0 8 P35250,P17900,Q9Y4P3 3 |
| Sound sensitivity 0.4082818372471448 0.4342044016654089 0.6641400170156886 1.0 1.0 8 P35250,P17900,Q9Y4P3 3 |
| Restlessness 0.3021800665948218 0.4341518892767894 0.6641781470560246 1.0 1.0 36 O43464,Q92804,P42892,P09651,P50995,Q15165,P04062,P35637,Q9UJS0,P43243,P35610 11 |
| Abnormal size of the clitoris 0.3421074009241332 0.4330155662242438 0.665003461217204 1.0 1.0 16 Q9NX14,Q9Y619,P51809,O75381,P16435,P40855,P53701 7 |
| Increased circulating lactate dehydrogenase concentration 0.3588636948959378 0.4319232609386023 0.6657971880739586 1.0 1.0 14 Q5JRX3,Q96RL7,P23786,Q9UJS0,P10253 5 |
| Inguinal hernia 0.28483911774108 0.4295566558609253 0.6675181725087875 1.0 1.0 68 O43175,Q10713,P48651,Q9UHX1,Q9Y487,Q9NWM8,P51812,Q9UM00,Q96DF8,P35250,P21964,Q8NCH0,Q9BUB7,Q12768,Q32P28,P08236,P16278,Q9UQ13,Q8NBU5,P07437,Q9Y4P3,Q04656 22 |
| Abnormal libido 0.6109979633401141 0.4267485659599521 0.6695624727520004 1.0 1.0 2 O00170 1 |
| Chordee 0.4574030027774614 0.4236437857044715 0.6718256175872659 1.0 1.0 6 P48651,P53701,P16435 3 |
| Skin erosion 0.4184030645852721 0.423218072326456 0.6721361623528632 1.0 1.0 7 P02545 1 |
| Chronic hepatic failure 0.6263506612391199 0.421906700037982 0.6730931194115977 1.0 1.0 4 Q10713 1 |
| Heterotaxy 0.5408734890008571 0.4216908166068416 0.6732507083742219 1.0 1.0 5 Q5H8A4 1 |
| Typical absence seizure 0.3628523867145038 0.4196708991752317 0.6747258868020243 1.0 1.0 12 Q01105,Q13510 2 |
| Skin pit 0.3486203525051446 0.4191072355395809 0.6751377629631738 1.0 1.0 15 P16615,P61978 2 |
| Leukocytosis 0.3154639888139861 0.4184685462977757 0.6756045788816376 1.0 1.0 24 Q03252,P11413,P00813,P35914,Q6UN15,P35610 6 |
| Abnormality of the coagulation cascade 0.298904522418205 0.4169278856503996 0.6767311560509306 1.0 1.0 37 Q9Y487,P49257,Q16836,Q96AA3,Q9Y619,Q5XKP0,P51571,Q9H845,Q4KMQ2,P35914,Q13043,Q9UJS0,Q6UN15,Q9Y276 14 |
| Abnormality of skin pigmentation 0.268898550915935 0.4161690616151911 0.677286297100558 1.0 1.0 114 Q14739,O75431,Q08J23,P04062,P51648,P21964,P03886,P53701,Q13423,Q7LGA3,Q8IZA0,P16615,P53634,P36551,P02545,P07602,P00403,O75844,P21912 19 |
| Corneal erosion 0.6239200516959618 0.4142748610381136 0.6786728223204428 1.0 1.0 4 P01889,P51648 2 |
| Mandibular aplasia 0.5385057194673202 0.4133682246895325 0.6793368513815854 1.0 1.0 5 Q9Y619 1 |
| Abnormal hair laboratory examination 0.4546400356082032 0.4126621968798182 0.6798541252576622 1.0 1.0 6 P02545,P18074,Q9Y276 3 |
| Cirrhosis 0.2951272098742284 0.4115616364619814 0.6806607554306314 1.0 1.0 39 Q14108,P22830,P25054,Q10713,Q15904,Q14739,P04062,Q13043,Q9UJS0,P35670,P16930,P11717,Q9Y276 13 |
| Aplasia hypoplasia affecting the eye 0.2738039513494734 0.4113233126233947 0.68083547751209 1.0 1.0 81 Q15058,Q02978,P25054,O43175,O43505,Q9UHX1,Q8WXI9,P61978,O43924,Q5SRE5,O95202,P37268,P35250,Q6NUK1,P21964,P53701,Q02252,Q7LGA3,Q9UMX1,Q9H2M9,P21912,P07437,Q9NVI7,Q9Y4P3 24 |
| Abnormal metabolism 0.2818620354519273 0.4110917195891129 0.681005281456541 1.0 1.0 45 Q9Y487,P46977,Q96AA3,Q8TCJ2,Q01082,Q8N511,Q15904,Q9BT22,Q13043,Q2TAA5 10 |
| Oculogyric crisis 0.3762998264836973 0.4091039279487476 0.6824633938119613 1.0 1.0 10 P61457 1 |
| Cranial nerve compression 0.3640055947956249 0.4081616643936617 0.6831549906994845 1.0 1.0 11 P22626,P21912,P09651,Q02978 4 |
| Megaloblastic anemia 0.4148871555934509 0.4079224726752486 0.683330593544013 1.0 1.0 7 O43175 1 |
| Nasal regurgitation 0.6052274270196794 0.4077842612885682 0.6834320693862788 1.0 1.0 2 P53007 1 |
| Macroorchidism 0.6216023882662175 0.4070426762535574 0.6839766443436726 1.0 1.0 4 P38159 1 |
| Ambiguous genitalia 0.3189544587303053 0.406178684579678 0.684611314630514 1.0 1.0 21 O43175,Q15392,P16435,O75845,P53701 5 |
| Aplasia cutis congenita of scalp 0.4523008839723749 0.4034249108513887 0.6866356640432187 1.0 1.0 6 Q5H8A4 1 |
| Easy fatigability 0.3145335564328482 0.40300423347738 0.6869451101208939 1.0 1.0 23 Q9NWM8,P61978,Q8IUX1 3 |
| Skeletal muscle hypertrophy 0.2940662953991006 0.4015584127293859 0.6880090411801643 1.0 1.0 39 P61978,P07686,P02545,Q10713,P16278,Q7LGA3,P04066,Q96A33,P21912,P35250 10 |
| Enterocolitis 0.6031907671418788 0.4011825091760831 0.688285757294389 1.0 1.0 2 P42224 1 |
| Acute pancreatitis 0.6179066562165325 0.40020797084277 0.6890033442487364 1.0 1.0 3 P02545 1 |
| Centrally nucleated skeletal muscle fibers 0.4005728612909905 0.3987229417647625 0.6900973616368593 1.0 1.0 8 Q9BPX6,P50570,P22626 3 |
| Abnormality of the choanae 0.3029647351031413 0.3980248932797021 0.6906118362978986 1.0 1.0 32 P02545,P21964,O75844,P16435 4 |
| Hypocalcemia 0.3581564417329479 0.3926905312138883 0.6945480650248868 1.0 1.0 13 P51798,P21964,Q96DF8,Q4J6C6 4 |
| Rib fusion 0.3874243620419869 0.3919182999581733 0.6951185810784053 1.0 1.0 9 O95202,Q5H8A4,Q9UM00 3 |
| Sparse or absent eyelashes 0.316797185098943 0.39061610188898 0.6960810218365927 1.0 1.0 21 P02545,O75844 2 |
| Aplasia hypoplasia affecting the fundus 0.3137390814056726 0.3903150210608529 0.6963036172262935 1.0 1.0 22 Q15058,P61978,P25054,Q9NVI7,P37268,Q9UHX1 6 |
| Metaphyseal widening 0.3353727129421534 0.3902873487838007 0.6963240772357648 1.0 1.0 16 Q14739,O95831 2 |
| Postural instability 0.3353107629570922 0.3898977147754069 0.6966121837949326 1.0 1.0 16 O60220,P04062,O75503,Q8WVX9 4 |
| Lower limb muscle weakness 0.2869097273172802 0.3889377492880245 0.6973221964990106 1.0 1.0 42 P00846,O75298,P02545,Q13510 4 |
| Hyperlordosis 0.2822620335782674 0.3887914074296802 0.6974304576309036 1.0 1.0 44 P50402,P02545,P55795,Q9H2M9,O95140,P16278,P09651,P22626,Q8TD16,P50570,P04066,P35250,Q96HY6 13 |
| Pollakisuria 0.6153876410384476 0.3878717776742664 0.6981109244449033 1.0 1.0 4 Q8WVX9 1 |
| Persistent head lag 0.4099334247023221 0.3865991378727288 0.6990529962954997 1.0 1.0 7 Q5XKP0,Q15233 2 |
| Abnormality of adrenal physiology 0.3069398085635026 0.385948866328471 0.69953453897506 1.0 1.0 27 P51809,O95470,O75381,Q13423,P33991,Q9UMX1,P16435,P40855 8 |
| Dyspareunia 0.6112054329371754 0.3794108387484964 0.7043828030541537 1.0 1.0 3 P01889,O00170 2 |
| Mediastinal lymphadenopathy 0.6121712179963713 0.3780800514882012 0.705371126975058 1.0 1.0 4 O15460,Q01844 2 |
| Childhood onset 0.2971184458130887 0.3779566311607484 0.7054628116771435 1.0 1.0 35 P50402,Q5JRX3,O60220,Q15904,Q14566,O75431 6 |
| Abnormality of the spinal cord 0.280938173772247 0.3743813751554981 0.7081205975939677 1.0 1.0 66 O43175,Q10713,Q9UHX1,Q5H8A4,Q08J23,O95202,P35250,P21964,Q9HC21,Q8TAA9,Q12768,O75298,O95140,P16278,Q9UMX1,P20700,Q6PI48,O00400,Q9Y4P3,O75845,Q8WVX9 21 |
| Dilatation of the cerebral artery 0.3948972186700124 0.3730287313084174 0.7091270603187123 1.0 1.0 8 Q01082,P10253,Q9NSD9,P10644 4 |
| Severe postnatal growth retardation 0.3571744721498348 0.3717410250260892 0.7100856768943571 1.0 1.0 11 O95202 1 |
| Abnormal epidermal morphology 0.3273391928381606 0.3716776022719227 0.7101329030288321 1.0 1.0 17 P02545,O75844 2 |
| Pes valgus 0.3685577523766934 0.3698547592211968 0.7114907117224454 1.0 1.0 10 Q9UHX1,Q5H8A4 2 |
| Limited wrist movement 0.6093508860908571 0.3695689910146649 0.7117036593434429 1.0 1.0 4 P02545 1 |
| Short palm 0.3213705193367619 0.3691074064195919 0.7120476686217794 1.0 1.0 18 P82673,P02545,Q13555,Q9Y619,P48651,Q9H9E3,Q9UHX1,O60762,Q9H2M9,Q04656 10 |
| Abnormal pulmonary thoracic imaging finding 0.3209994683398567 0.3666318404564694 0.7138936544120706 1.0 1.0 18 P21964,Q9NZ08,Q13510 3 |
| Abnormality of pain sensation 0.3095439495911101 0.3658607071287363 0.7144690177574857 1.0 1.0 23 O95831 1 |
| Malabsorption 0.278407083583422 0.3632898152227487 0.7163884006646608 1.0 1.0 52 Q04656,P09601,O76024,P06280,O75381,Q14739,Q14566,Q9NZ08,Q96A33,Q9Y4P3,P35250,P40855,Q08J23,P01889 14 |
| Impaired distal tactile sensation 0.605272702269213 0.3613804122341061 0.717815088801325 1.0 1.0 3 O15269 1 |
| Reduced circulating prolactin concentration 0.6048561093673768 0.36012812033823 0.7187513246673525 1.0 1.0 3 Q9UMX1 1 |
| Aplastic clavicle 0.5229711933552947 0.3600652276157305 0.718798355542186 1.0 1.0 5 P48651,Q9Y619 2 |
| Abnormal blood sodium concentration 0.3806504535490187 0.3598402553708222 0.7189665974205461 1.0 1.0 9 Q13423 1 |
| Cystic hygroma 0.3918911794155631 0.3595771596997051 0.7191633665681931 1.0 1.0 8 Q14739 1 |
| Ovarian neoplasm 0.3150188520928566 0.3585801533059378 0.7199091960917947 1.0 1.0 20 P02545,P51809,P48735,Q01844,Q9UMX1 5 |
| Periorbital fullness 0.3299581691975183 0.3564841701867643 0.721478004847389 1.0 1.0 16 Q8WXI9,P07437,P38159,P51812,Q7LGA3,P40855 6 |
| Asthma 0.3171864528059559 0.356383947752656 0.7215530491082798 1.0 1.0 19 P21964,P00813 2 |
| Broad ribs 0.5216511657664247 0.3556449636160371 0.7221064661911782 1.0 1.0 5 P48651,P16278 2 |
| Oligohydramnios 0.3022440092451043 0.3543344493238703 0.7230882534729561 1.0 1.0 28 Q15058,Q9UHX1,Q07021,Q7LGA3,P23786,P16435,Q9BUB7 7 |
| Nuclear cataract 0.5204762648790562 0.3517256772125015 0.7250440018887585 1.0 1.0 5 P08670,O76024 2 |
| Abnormal female reproductive system physiology 0.2787583935907779 0.3477389193610708 0.7280362651896974 1.0 1.0 57 O00429,O43464,Q9UJS0,P49257,O75298,P02545,P31751,P51809,O75844,Q9NR50,Q9UMX1,P16435,Q9BUK6,P35670,Q6UN15,P01889 16 |
| Failure to thrive 0.3327964457215336 0.3461738944920552 0.729212032421851 1.0 1.0 280 P55263,Q9NZJ7,Q13510,Q96AA3,Q7KZN9,O43676,O43175,Q9Y619,P00813,O75381,P00846,Q86Y39,Q14739,Q5H8A4,Q9HC07,Q2TAA5,Q15067,Q03164,O00116,Q9Y487,Q9NPL8,Q16836,P09622,O43924,Q9BQT8,P13073,O95202,P37268,P04062,P04066,Q15800,P21964,Q9UJS0,P42892,Q9Y6M9,P03886,P40855,P53701,P35250,P35670,Q9P0J0,Q16625,Q13423,Q15392,Q8N5M9,Q8IUX1,O43819,P16930,P20700,P46977,Q8TCJ2,P02545,P55795,P07602,P00403,Q15904,O75844,P51572,O96000,P21912,O75845,Q96CU9,Q4J6C6 63 |
| Abnormality of chorioretinal pigmentation 0.5997073035179389 0.3448031316074458 0.7302423786164405 1.0 1.0 3 Q9Y619 1 |
| Abnormality of t cell physiology 0.3490576366891184 0.3444321454393656 0.7305213175168863 1.0 1.0 12 P21964 1 |
| Delayed cns myelination 0.2964903455559103 0.3434095971246 0.731290340583379 1.0 1.0 32 Q5SRE5,Q9H490,Q9Y584,O95831 4 |
| Prematurely aged appearance 0.2920308894340651 0.3430936986946657 0.7315279714607836 1.0 1.0 36 Q9Y487,Q03252,P35250,P02545,P48651,Q9H2M9,O75844,O75431,Q6NUK1 9 |
| Limb dystonia 0.3355130539376015 0.3405302692328432 0.7334572317987114 1.0 1.0 15 Q99720 1 |
| Myositis 0.3874185918100019 0.3397746860790585 0.7340262125545434 1.0 1.0 8 Q9NZ08,P01889,P22626 3 |
| Aplasia hypoplasia involving bones of the feet 0.2785381399723827 0.3395742493169124 0.7341771730329425 1.0 1.0 61 Q13510,P02545,P00813,O95202,P13073,Q9UHX1,Q5H8A4,Q7LGA3,Q08J23,Q03164 10 |
| Female sexual dysfunction 0.4356859681438655 0.3395042212937113 0.7342299175958606 1.0 1.0 6 O75298,O43464 2 |
| Absent toe 0.3094142006747362 0.3380575672464092 0.735319806381318 1.0 1.0 21 O95202,Q9UHX1,Q5H8A4,P02545 4 |
| Abnormal aortic valve cusp morphology 0.3065397802468001 0.3378624511990422 0.7354668449108785 1.0 1.0 22 P61978,Q01082,P37268,Q9UHX1,P35250,Q6NUK1 6 |
| Steppage gait 0.315883340943041 0.3327802045696461 0.7393002018679211 1.0 1.0 18 P02545,P05023,Q96BR5,O95140,O15269,O43819 6 |
| Proximal muscle weakness in lower limbs 0.3136109516492362 0.3322615318586681 0.7396917845331084 1.0 1.0 19 P50402,P36551,P02545,O95140,P35670 5 |
| Poor fine motor coordination 0.4334450341241598 0.3311248912031135 0.7405501507235557 1.0 1.0 6 O95140,Q6PI48,O00330 3 |
| Spinal cord lesion 0.3946211441363282 0.3225214797905711 0.7470576678902097 1.0 1.0 7 O00400,O75298 2 |
| Paresthesia 0.3143043438224011 0.322443190536997 0.7471169686172106 1.0 1.0 18 P54802,O95140,P06280,O15460,Q9NZ08 5 |
| Abnormality of iron homeostasis 0.51095528243735 0.320501025145391 0.7485885533655838 1.0 1.0 5 P28288,Q6PGP7,Q9Y276 3 |
| Periventricular cysts 0.3938745934905615 0.3194735460056094 0.7493674484217101 1.0 1.0 7 O95202 1 |
| Chronic constipation 0.3022581303134877 0.3193998857295549 0.7494232974651536 1.0 1.0 24 Q03252,P55795,P78318,P04062,Q7LGA3,P20700 6 |
| Viral encephalitis 0.5760353021045382 0.3180170155997291 0.7504720298487122 1.0 1.0 2 P42224 1 |
| Upper limb muscle weakness 0.2990798965519429 0.3134696456033626 0.7539238787099327 1.0 1.0 26 P46976,P50402,P36551,P02545,O95140,P00846,P50570,Q8N0X7,Q9UMX1,Q969G3 10 |
| Thyroiditis 0.5080216926264312 0.3110783209205696 0.7557410814904113 1.0 1.0 5 P00813 1 |
| Polycystic kidney dysplasia 0.3425847963898725 0.3101426856253776 0.7564524530856096 1.0 1.0 12 P21964 1 |
| Delayed closure of the anterior fontanelle 0.3429687508297062 0.3095840099481857 0.7568773175069066 1.0 1.0 13 Q9Y487,P51812,P40855,O75381 4 |
| Midline defect of the nose 0.572301425661904 0.3073269488809168 0.7585945253387814 1.0 1.0 2 P21359 1 |
| Hypochromic anemia 0.3444623591693233 0.305828530592824 0.7597352043220873 1.0 1.0 11 P25054,Q10471,O75027,O75533 4 |
| Cerebral cortical atrophy 0.2506732443191891 0.3051043295743277 0.7602866938010009 1.0 1.0 94 Q9NWS8,Q96AA3,O76024,Q16625,Q9Y619,P00403,O43924,Q8TD16,P00846,P51572,P04062,Q7LGA3,P35250,Q5KU26,P03886,O75503 16 |
| Preaxial polydactyly 0.3366836692257269 0.3050933599557697 0.7602950482607429 1.0 1.0 14 Q9UHX1,O43924,Q5H8A4 3 |
| Osteoporosis 0.2751400960348594 0.3033229741795235 0.7616437395405751 1.0 1.0 59 O75845,Q13043,Q13510,P02545,O43175,P16278,O95202,Q5H8A4,Q9HC07,P35250,P35670,Q9HC21 12 |
| Multifocal cerebral white matter abnormalities 0.5862462945181424 0.3026292261926193 0.7621724389963083 1.0 1.0 4 Q9Y619 1 |
| Abnormality of dental color 0.5849976363280736 0.3026289993263604 0.7621726119073293 1.0 1.0 3 P16278 1 |
| Ulnar deviation of the wrist 0.5845570327192193 0.3014036806493387 0.7631066879857726 1.0 1.0 3 P16278 1 |
| Abnormal diaphysis morphology 0.2751479807617058 0.3009262750024672 0.7634707138821524 1.0 1.0 62 Q9Y487,P51812,O75718,P35250,Q32P28,Q01082,Q9Y4P3,P48651,Q9Y619,P08236,P16278,Q14739,Q9HC07,Q7LGA3,P16435,O75431,Q96HY6 17 |
| Abnormal prolactin level 0.5853396831374795 0.3001086999809452 0.7640942432776043 1.0 1.0 4 Q9UMX1,Q969G3 2 |
| Posterior polar cataract 0.5835569609534278 0.2986308678952618 0.7652217104061321 1.0 1.0 3 P08670 1 |
| Abnormal distal phalanx morphology of finger 0.2775707733146978 0.2984215330821523 0.7653814563410279 1.0 1.0 42 Q8WXI9,P82673,P51812,P51798,Q01082,P02545,Q9H2M9,O75844,Q7LGA3,Q9UMX1,P16435,O75431,Q6NUK1,P53634,Q969G3 15 |
| Abnormal thorax morphology 0.3026769631922974 0.2978319420680127 0.765831434010656 1.0 1.0 202 O95831,Q13510,O75718,Q9Y619,P00813,Q14739,O60313,Q9UHX1,Q5H8A4,P16435,O75431,Q08J23,Q03164,Q9Y487,Q9H490,P61978,P62847,P15586,O95202,P04062,P04066,P51648,P21964,Q8NCH0,P50402,Q8TAA9,Q32P28,P54802,P16278,Q7LGA3,P02545,P55795,P78318,Q8TD16,O75844,Q96A33,P21912,O75845,Q96HY6 39 |
| Abscess 0.3538489618207214 0.2976260473560447 0.7659885921098311 1.0 1.0 10 P53634 1 |
| Abnormality of the inner ear 0.3663328508242139 0.2940914401052432 0.7686880316247382 1.0 1.0 9 Q9Y619 1 |
| Esophageal neoplasm 0.3872624829880758 0.2928112427541908 0.7696664342480477 1.0 1.0 7 P25054,Q8N9N2,P21912 3 |
| Neoplasm of the tracheobronchial system 0.5668703326544356 0.2921164256727838 0.7701976082742459 1.0 1.0 2 P30154 1 |
| Frontotemporal dementia 0.3526773575131249 0.2920182673018501 0.7702726571204137 1.0 1.0 10 P35637,P09651,P22626 3 |
| Abnormality of the nasal dorsum 0.2691301052319287 0.2906356829658185 0.7713299664644486 1.0 1.0 48 P61978,P02545,O43175,P16278,Q5SRE5,O75844,O75431 7 |
| Type ii diabetes mellitus 0.28689103903034 0.289204726583487 0.7724247150407266 1.0 1.0 35 Q8WWY3,O76024,P02545,P31751,P00403,O00330,P03886,Q9Y4P3,P35250,Q15056,P43304 11 |
| Preaxial hand polydactyly 0.3651568282474296 0.2888258343833375 0.7727146612608689 1.0 1.0 9 Q9UHX1,Q5H8A4 2 |
| Emg axonal abnormality 0.5655125594025687 0.2883773478400434 0.7730579053683719 1.0 1.0 2 Q15120 1 |
| Abnormal echocardiogram 0.5796264855687504 0.2878468453360255 0.773463976775862 1.0 1.0 3 P49748,P12235 2 |
| Abnormality of the metopic suture 0.3264065524129204 0.2877365098014636 0.773548440543687 1.0 1.0 15 O75845,P61978,Q5SRE5 3 |
| Hyperkinetic movements 0.3408089612270649 0.2873828710378058 0.7738191752249233 1.0 1.0 11 Q9NZJ7,P07602 2 |
| Abnormality of hair pigmentation 0.2984612945183147 0.2853461336890343 0.7753789717237587 1.0 1.0 23 P37268 1 |
| Tremor by anatomical site 0.2965063300599541 0.2850543872452176 0.7756024745661838 1.0 1.0 25 Q01082,Q99720,Q96RL7,O95140,Q9Y4W6,P35637,Q9H2M9,P20700 8 |
| Abnormal circulating albumin concentration 0.2925290283373835 0.2842165859095277 0.7762444056444253 1.0 1.0 29 Q8NFH4,Q8N1F7,O95470,Q9BT22,Q13043,Q9UJS0 6 |
| Limitation of movement at ankles 0.5794117660880577 0.2838357584126302 0.7765362497331987 1.0 1.0 4 P02545 1 |
| Mixed hearing impairment 0.3848085074799891 0.2830729329830396 0.7771209297117561 1.0 1.0 7 Q9NWM8 1 |
| Abnormal vitreous humor morphology 0.4195860898299167 0.2807050476398655 0.7789366369004116 1.0 1.0 6 P53701,P04439,O75533 3 |
| Aplasia hypoplasia involving the nose 0.2945030401820307 0.279169752207848 0.7801145554139561 1.0 1.0 26 P61978,P55795,P02545,O75844,O75431,Q08J23 6 |
| Mitral valve prolapse 0.3007449504457879 0.2779023956735204 0.7810872848333781 1.0 1.0 21 Q9NX14,P02545,P55795,Q9Y4P3,P35250,Q15056,P53701 7 |
| Abnormal cervical spine morphology 0.4972421516041896 0.2772967304473629 0.7815522698933051 1.0 1.0 5 Q8NCH0 1 |
| Bifid scrotum 0.4181678322448697 0.2756879156631814 0.7827877779833345 1.0 1.0 6 Q01082,P16435 2 |
| Abnormality of globe size 0.2682376051205075 0.2741635760889344 0.7839589180908106 1.0 1.0 49 Q02252,Q15058,Q9BUK6,O43175,O43505,O43924,Q5SRE5,Q9H2M9,Q9UHX1,Q9UMX1,O75431,Q6NUK1,P53701,P21964 14 |
| Type ii transferrin isoform profile 0.573546783390508 0.2715283612396749 0.7859846896272222 1.0 1.0 3 Q15904 1 |
| Neoplasm of the adrenal cortex 0.3817807745327113 0.2711792148986905 0.786253198337237 1.0 1.0 7 P25054,P48735,O75874 3 |
| Abnormality of the liver 0.3279802678851869 0.2696967612668453 0.7873935523870292 1.0 1.0 280 P55263,P50416,Q9NZJ7,Q13510,Q96AA3,Q7KZN9,P11413,O43676,Q10713,Q9Y619,Q96RL7,P00813,O75381,O00330,Q5XKP0,P00846,Q86Y39,Q14739,Q5H8A4,P22626,Q9HC07,P23786,O75431,Q15067,O75533,Q03252,Q9NPL8,Q14108,P09601,O43772,Q16836,P10619,P09622,P31751,Q8N511,P15586,O95202,Q9BT22,P04062,P04066,Q9UJS0,P21964,Q9Y6M9,P40855,P35610,P03886,P35670,P35250,Q9BUB7,Q9HC21,P07686,Q16625,P54802,P16278,P09651,O15118,Q07021,Q8IUX1,Q13043,P10253,P53634,P16930,Q9NWS8,P36551,P02545,P07602,Q15904,P33991,Q01844,Q96A33,P35914,O96000,P21912,O75845,Q96CU9,Q96HY6 76 |
| Dystonia 0.2800866234980421 0.2694750356203054 0.787564150599712 1.0 1.0 155 Q9NZJ7,Q7KZN9,Q15043,Q96RL7,O00330,P00846,Q08J23,Q15067,O43464,P09622,P61457,P04062,P35670,Q8NI60,Q6DKK2,P03886,O00429,Q02252,Q9NQZ5,P17900,Q9P0J0,Q99720,P16278,O15118,O43819,Q9H936,O14949,Q01105,Q96N66,O60220,P07602,Q5THJ4,O75208,Q9Y4W6,P51572,P35637,Q96CU9 37 |
| Aplasia hypoplasia of the 5th finger 0.3346585655356672 0.26915716472507 0.7878087418309125 1.0 1.0 12 P13073 1 |
| Hamartoma 0.3018251199831595 0.2689214520146591 0.7879901285470261 1.0 1.0 20 Q02978,P25054,O43924,P48735,Q9UMX1,P21912,O75874 7 |
| Premature birth 0.2743955088026489 0.2683424699175551 0.7884357182703958 1.0 1.0 42 P02545,O43676,O75381,O75844,P04062,P40855 6 |
| Abnormal urine carbohydrate level 0.3343220836963173 0.2674432892996116 0.789127872802337 1.0 1.0 12 Q9UJS0,P10253,P16278,P04066 4 |
| Abnormality of the neck 0.2817973179017763 0.2667303644442517 0.7896767731801155 1.0 1.0 159 O95831,Q96AA3,O43175,Q14739,Q9UHX1,Q5H8A4,O75431,Q03164,Q9Y487,P61978,P62847,Q5SRE5,P15586,O95202,P21964,P40855,P50402,Q99720,P16278,Q7LGA3,P02545,P78318,O75844,O96000,P35637,Q96HY6 26 |
| Overriding aorta 0.359917755009206 0.2656362375199618 0.7905193744199204 1.0 1.0 9 Q9NX14,P53701,P35250,Q9Y4P3 4 |
| Hallux valgus 0.3343060148789977 0.2639680621634845 0.7918045288349274 1.0 1.0 13 P04062,Q15233,Q9Y4P3,P35250,Q15056 5 |
| Aortic regurgitation 0.2944180442765753 0.2625539859185979 0.7928943699001234 1.0 1.0 24 Q6ZXV5,Q6PGP7,Q01082,P02545,Q9UQ13,O75844,Q9UHX1,P36543,Q9NZ08,Q96PU5,P01889 11 |
| Abnormal macular morphology 0.2920417960191848 0.2609677710380887 0.794117361234099 1.0 1.0 26 Q9NW15,P50897,Q13510,P51648 4 |
| Abnormal aortic arch morphology 0.3457816238857807 0.2594882106483115 0.7952585771289251 1.0 1.0 10 P21964 1 |
| Sideroblastic anemia 0.3580820093991167 0.2576173781730411 0.7967022164668138 1.0 1.0 9 O75027 1 |
| Abnormality of the pancreas 0.2698096374332862 0.2572746229460922 0.7969667812080012 1.0 1.0 70 P09601,P02545,P53985,P00403,Q14739,Q9UHX1,Q01844,Q9UJS0,P16930,Q9NZ08,P03886 11 |
| Aplasia hypoplasia of the tongue 0.5690160159889646 0.2561908467810735 0.7978034760544523 1.0 1.0 4 Q03252 1 |
| Microglossia 0.5690160159889646 0.2561908467810735 0.7978034760544523 1.0 1.0 4 Q03252 1 |
| Abnormal urinary color 0.4902547174915876 0.2561362754942096 0.7978456122290156 1.0 1.0 5 P23786 1 |
| Branchial anomaly 0.3777663005263931 0.2556221187551337 0.7982426374128824 1.0 1.0 7 Q9UHX1 1 |
| Mildly elevated creatine kinase 0.2946916191434273 0.2541789377249354 0.7993573216312115 1.0 1.0 22 Q16836,P02545,P09651,P50570,Q9BUK6,P43243 6 |
| Palmar pits 0.5682369779445593 0.2541661421945628 0.7993672064757316 1.0 1.0 4 P16615 1 |
| Abnormality of reproductive system physiology 0.2651563770776697 0.2540026141411285 0.7994935385268565 1.0 1.0 127 O43175,P48651,P51809,O95470,O60313,P16435,Q9BUK6,Q969G3,O43464,P31751,Q9BT22,P04062,Q9UJS0,P35250,P35670,P03886,O00429,P49257,O76024,O75298,P07686,Q13423,Q9UMX1,Q9H2M9,P20700,P01889,P02545,P00403,O75844,Q9NR50,Q9Y4P3,Q6UN15,Q4J6C6 33 |
| Inappropriate behavior 0.3085380210306044 0.2539987168166853 0.7994965494320305 1.0 1.0 17 Q9NZJ7,P17900,O43175,P07602,P35670 5 |
| Cerebral hypomyelination 0.3081203571134234 0.2514757397958548 0.801446316489101 1.0 1.0 17 P51572,O43175,O75746 3 |
| Abnormal cornea morphology 0.2680057986291864 0.2505964430315981 0.8021261320409154 1.0 1.0 133 Q13510,O43505,O75381,Q14739,Q5H8A4,Q2TAA5,Q10471,Q03001,Q8WXI9,Q9NWM8,Q8WWY3,P10619,Q9NX14,Q96EK5,O95202,P04062,P04066,P51648,P35250,Q6NUK1,P21964,P40855,Q8NCH0,P35670,P53701,Q16625,P08236,P16278,P06280,Q07021,Q7LGA3,Q9H2M9,Q9NZ08,P01889,P07437,P02545,Q9NVI7,O75844,Q9Y4P3,O75845 40 |
| Blepharophimosis 0.270485851589228 0.2503957385153907 0.80228132484758 1.0 1.0 43 P38159,P02545,Q9Y619,O75844,Q08J23,Q03164 6 |
| Abnormality of mouth size 0.2542832651541173 0.2503607092597485 0.8023084116769228 1.0 1.0 107 P25054,P48651,Q9Y619,P16435,O75431,Q08J23,Q969G3,Q9Y487,Q8WXI9,P51812,Q9H490,Q9UM00,P15586,P04062,P35250,Q6NUK1,P21964,Q8NCH0,Q9BUB7,P16278,Q15392,P51571,Q8WVM7,Q7LGA3,Q15233,Q15056,Q8TAQ2,P07437,Q01105,P02545,P55795,Q9NVI7,O75844,Q9Y4P3 34 |
| Hyperostosis 0.3316610017810446 0.2503303520592234 0.8023318859707778 1.0 1.0 13 Q15043,P48651,P09651,P22626 4 |
| Difficulty standing 0.5661781102296309 0.2488472767980924 0.803478919516706 1.0 1.0 4 O43292 1 |
| Pseudoepiphyses of hand bones 0.4877685793861656 0.2487526292916355 0.8035521357725814 1.0 1.0 5 O95202 1 |
| Pseudoepiphyses 0.4877685793861656 0.2487526292916355 0.8035521357725814 1.0 1.0 5 O95202 1 |
| Abnormal conus terminalis morphology 0.3756262767938544 0.2474307699575796 0.8045748633616847 1.0 1.0 7 Q5H8A4 1 |
| Abnormal intestine morphology 0.2845529512503834 0.2453491910131215 0.8061860664829048 1.0 1.0 168 Q10713,Q14739,Q08J23,P08183,P61978,P09601,P62847,O95202,Q14566,Q9BT22,P21964,P40855,P42892,Q8NCH0,P03886,P53701,Q8TAA9,O76024,Q15392,P16930,Q9NZ08,P36551,P02545,P00403,O75844,Q01844,Q96A33,P21912 28 |
| Retinal coloboma 0.3552398118504044 0.245315086885471 0.8062124709483247 1.0 1.0 9 Q92620,Q9NP72,Q10713,Q9UHX1,Q9H2M9 5 |
| Downturned corners of mouth 0.2816552119044986 0.2450502741224306 0.8064175046559154 1.0 1.0 35 Q9H490,P61978,O95202,Q5H8A4,O75845 5 |
| Plantar hyperkeratosis 0.2864972589589885 0.2440728556335762 0.8071743949579151 1.0 1.0 30 P02545,P42167,O75431,P53634,P16615 5 |
| Urinary retention 0.4861294199517362 0.2439269864083506 0.807287368219602 1.0 1.0 5 Q8TAA9 1 |
| Male pseudohermaphroditism 0.5623087852911092 0.2425549367527302 0.8083501940212461 1.0 1.0 3 P53701 1 |
| Abnormal circulating glutamine family amino acid concentration 0.4854464885909767 0.2419265135395802 0.8088371054294481 1.0 1.0 5 O96000 1 |
| Neoplasm of the breast 0.2922859953954781 0.2418528102222564 0.808894216681288 1.0 1.0 23 P25054,P11802,P02545,P48735,P21912,O75874 6 |
| Focal myoclonic seizure 0.3642032581009158 0.2415357083167118 0.8091399443234082 1.0 1.0 8 P21912,O75503 2 |
| Ventricular septal hypertrophy 0.5605955353953616 0.238276651176599 0.8116665295429277 1.0 1.0 3 P06280 1 |
| Abnormal emotion affect behavior 0.3014431592980712 0.2360737858045904 0.813375414983978 1.0 1.0 209 Q9NZJ7,O95831,Q13510,Q7KZN9,O43175,Q10713,Q96RL7,P00846,Q9UHX1,P50897,Q15067,Q03164,O43464,P51812,O43772,Q92804,Q8NFH4,P00558,P05023,P61457,P50995,P37268,Q15165,Q9UBB4,P04062,Q9UJS0,P35670,P43243,Q6DKK2,P35610,Q9HC21,P17900,Q8N1F7,Q9P0J0,Q01082,P54802,P09651,Q15233,Q9UMX1,Q9NZ08,O75503,P21912,Q9H936,Q01105,P55795,P07602,Q9NR50,P51572,P06865,P35914,P35637,Q5KU26,Q96CU9 53 |
| Iron deficiency anemia 0.4829095843780645 0.2345475429493744 0.814559928394766 1.0 1.0 5 P25054,Q10471 2 |
| Arnold chiari malformation 0.2942935279849776 0.2343876121935832 0.8146840748636404 1.0 1.0 21 O75845,Q8TAA9,Q15043,P16435,P35250 5 |
| Diffuse mesangial sclerosis 0.298545256669219 0.2338862560130932 0.8150732834349999 1.0 1.0 19 Q8NFH4,P00813,O95470 3 |
| Renal cell carcinoma 0.2963754022511587 0.2331557070322377 0.8156404986967345 1.0 1.0 20 Q02978,P25054,P02545,P21912,Q92733 5 |
| Short femur 0.482347070395552 0.2329226066185756 0.8158215036399652 1.0 1.0 5 O00116 1 |
| Abnormality of pelvic girdle bone morphology 0.2662524647184199 0.2319483546778586 0.8165781268737227 1.0 1.0 132 O95831,O75718,Q9Y619,P00813,Q14739,Q9UHX1,Q5H8A4,P16435,O75431,Q9Y487,P61978,Q9Y584,O95202,Q8TAA9,P16278,Q7LGA3,Q8IZA0,P02545,Q8TD16,O75844,Q96A33 21 |
| Cranial asymmetry 0.4054004743101143 0.2318009469758878 0.8166926215069155 1.0 1.0 6 O95202 1 |
| Pneumonia 0.2646453718037952 0.2304797933511725 0.8177189634367674 1.0 1.0 50 Q13510,O60220,P00813,P16278,P04062,Q13432,P20700 7 |
| Polygenic inheritance 0.4048266485384195 0.2298843627334235 0.818181627677925 1.0 1.0 6 P35658,O60934,Q07812,P50454,P22413 5 |
| Abnormality of dental structure 0.268276549146275 0.2287749854000166 0.819043809970907 1.0 1.0 67 Q9Y487,P02545,P16278,O75844,P51648,Q9HC07,O75431,P21964 8 |
| Abnormal hypothalamus physiology 0.4804083149818844 0.2273535847421693 0.8201488092391167 1.0 1.0 5 Q9UMX1 1 |
| Basal cell carcinoma 0.3283895239583458 0.2265492392867915 0.820774267124329 1.0 1.0 11 P02545,P25054,Q9UMX1 3 |
| Multiple joint contractures 0.2989731425511008 0.2251466198575314 0.8218652144612941 1.0 1.0 18 P02545 1 |
| Abnormal hand morphology 0.247058086120437 0.2249721988838229 0.8220009019743166 1.0 1.0 97 O95831,Q13510,P02545,O43175,P62847,Q8TD16,O75844,P13073,Q9UHX1,Q5H8A4,P16435,Q03164 12 |
| Abnormality of the brainstem white matter 0.5550565996199498 0.2247010871106468 0.8222118188431817 1.0 1.0 3 Q10713 1 |
| Molar tooth sign on mri 0.5565719862577905 0.2246562837785881 0.8222466757360498 1.0 1.0 4 Q10713,O43924 2 |
| Hip contracture 0.3277347802180251 0.2234277404213129 0.8232026162242017 1.0 1.0 11 Q8TD16 1 |
| Genu valgum 0.281628982719977 0.2226023859026003 0.8238449793593594 1.0 1.0 32 P35250,Q01082,P51798,Q9Y619,P08236,P16278,Q7LGA3,Q9Y4P3,O75431,Q04656 10 |
| Moderately reduced visual acuity 0.5540342471930668 0.2222384828349233 0.8241282380983155 1.0 1.0 3 O60313 1 |
| Abnormal renal resorption 0.5536974353213888 0.2214301440406594 0.8247575233540512 1.0 1.0 3 P16930 1 |
| Renal fanconi syndrome 0.5536974353213888 0.2214301440406594 0.8247575233540512 1.0 1.0 3 P16930 1 |
| Death in childhood 0.2890536819276948 0.2195281864244224 0.8262386257207646 1.0 1.0 23 Q9NPL8,Q8TCJ2,P07686,P20674,P18074,P35914,Q96IX5,O75431,Q04656,Q9H936 10 |
| Cerebellar vermis atrophy 0.3489562848991012 0.218622092065189 0.8269444420920657 1.0 1.0 9 Q10713,Q8WVX9 2 |
| Facial erythema 0.5373387644263278 0.2167474484014916 0.8284051683859661 1.0 1.0 2 O00170 1 |
| Gangrene 0.3259444196411677 0.2149384149853621 0.8298153339378294 1.0 1.0 11 Q6UN15,O15460,Q9NZ08 3 |
| Myelomeningocele 0.550940120670095 0.2148680512768585 0.8298701944912532 1.0 1.0 3 O75845 1 |
| Abnormality of the pituitary gland 0.265728780105431 0.2140957337112352 0.8304724026730208 1.0 1.0 55 Q12768,O76024,P25054,Q4J6C6,P51809,O75874,P48735,P33991,Q9UHX1,Q15233,Q9UMX1,P16435,Q9BUK6,Q03164,Q969G3 15 |
| Prolonged neonatal jaundice 0.305843376593481 0.213199998993922 0.8311709690518803 1.0 1.0 16 O15118,P36551,Q15904 3 |
| Atrophy degeneration affecting the brainstem 0.3570559069802316 0.2130134256282361 0.8313164908592161 1.0 1.0 8 O00429,O60313,Q13217,P20700 4 |
| Atrophy degeneration affecting the cerebrum 0.3064380920041351 0.2126881103325613 0.8315702411740338 1.0 1.0 226 P55263,Q9NZJ7,O95831,Q96AA3,Q10713,Q9Y619,Q96RL7,Q15043,Q9Y320,O00330,P00846,O60313,Q9UHX1,Q5H8A4,Q2TAA5,P50897,Q08J23,O43464,O14773,Q9H490,O43924,P13073,Q9BT22,P04062,P04066,P35250,P40855,Q6DKK2,P03886,Q9BUB7,P17900,O76024,Q16625,P16278,Q7LGA3,P20700,O75503,Q9NWS8,Q9H936,O00400,Q01105,Q96N66,Q5JRX3,O60220,P07602,P00403,Q8TD16,O75208,P51572,Q96A33,O75845,Q5KU26,Q8WVX9 53 |
| Abnormal lumbar spine morphology 0.3473095770099457 0.2117457080348792 0.8323054266787644 1.0 1.0 9 O75845,P51812,P04062 3 |
| Recurrent skin infections 0.3125081259278575 0.2105552410455233 0.8332343417050052 1.0 1.0 15 Q8NCH0 1 |
| Abnormal cranial nerve physiology 0.2666800419008258 0.2071762984093355 0.8358721768727095 1.0 1.0 65 Q9NZJ7,P12235,Q13510,Q15043,P48651,O75381,P48735,Q9UHX1,Q86U42,O75874,Q969G3,P51812,P40855,P51798,P50570,Q9UMX1,O43819,Q9NZ08,P01889,Q96T58,P02545,P07602,P21912 23 |
| Oral pharyngeal dysphagia 0.3339458993616235 0.2056955924845048 0.837028701630997 1.0 1.0 10 Q13510 1 |
| Abnormal arm span 0.5322471147318311 0.2050513990935459 0.8375319674370352 1.0 1.0 2 Q9UJX6 1 |
| Increased arm span 0.5322471147318311 0.2050513990935459 0.8375319674370352 1.0 1.0 2 Q9UJX6 1 |
| Abnormal central sensory function 0.5465727329249179 0.2046774279061806 0.8378241569717328 1.0 1.0 3 Q9UMX1 1 |
| Edema of the dorsum of feet 0.5319076714188601 0.2042855667538104 0.8381303482116398 1.0 1.0 2 Q9Y263 1 |
| Edema of the dorsum of hands 0.5319076714188601 0.2042855667538104 0.8381303482116398 1.0 1.0 2 Q9Y263 1 |
| Abnormal shape of the palpebral fissure 0.354636717191979 0.2035620480887936 0.8386957533373192 1.0 1.0 8 Q9UHX1 1 |
| Osteomalacia 0.3633779294085529 0.2019802259779445 0.8399321829697208 1.0 1.0 7 O43175,P35670 2 |
| Abnormality of hair texture 0.2586534275944381 0.2012447911476632 0.8405071695799906 1.0 1.0 46 Q9Y487,Q8WXI9,P51812,Q04656,Q9UM00,P51798,O43175,P55795,P54802,Q9NVI7,O75844,P15586,Q96A33,Q6NUK1,Q08J23,Q9Y276 16 |
| Abnormal arachnoid mater morphology 0.3539254915464892 0.2008034701351394 0.8408522494229815 1.0 1.0 8 Q9UHX1 1 |
| Delayed ability to stand 0.5443658233859129 0.1996234206013672 0.8417751094510977 1.0 1.0 3 P21912 1 |
| Joint hypermobility 0.2514378148296177 0.1992400440061199 0.8420749767131865 1.0 1.0 87 Q9Y487,Q9H490,Q9NWM8,Q01105,Q03252,P02545,Q9Y619,P35670,Q15904,Q9UHX1,Q5H8A4,Q7LGA3,P35250,P21964,Q08J23,Q03164 16 |
| Abnormal labia minora morphology 0.3535205564528663 0.1992369909491728 0.8420773648273949 1.0 1.0 8 Q9Y619 1 |
| Lymphopenia 0.2853408767768599 0.1989461619160951 0.8423048591984312 1.0 1.0 24 Q13432,O95470 2 |
| Abnormality of tibia morphology 0.3166711121462834 0.1985385541671257 0.8426237232019558 1.0 1.0 14 O95831,P16435 2 |
| Emg abnormality 0.2610010639422508 0.1971434297877668 0.8437152982075 1.0 1.0 77 P09493,Q9NZJ7,Q13510,Q96RL7,P22626,O60313,Q9BUK6,O14773,Q8NI60,P43243,P50402,P42166,O95140,P09651,P50570,O15269,Q9UMX1,O43819,P02545,P07602,Q9H845,P31483,P42167,Q04656,Q9NW15 25 |
| Ectrodactyly 0.3099960540454274 0.1970950214146645 0.8437531793507786 1.0 1.0 15 Q99720,Q5H8A4 2 |
| Allergy 0.3616682340032932 0.1958381797461318 0.8447368255338705 1.0 1.0 7 P00813 1 |
| Abducens palsy 0.5440936720848442 0.1948149711000965 0.8455378016027664 1.0 1.0 4 P07602 1 |
| Supernumerary spleens 0.3611474952150439 0.1939776338284281 0.8461933948851983 1.0 1.0 7 O95202 1 |
| Genu varum 0.32057151804778 0.1898797775596452 0.8494033393461515 1.0 1.0 11 Q9Y619 1 |
| Abnormal renal pelvis morphology 0.2573087916930712 0.1881144597073889 0.8507869262422414 1.0 1.0 46 Q04656,P61978,O75718,Q12768,P25054,O76024,O43505,Q9H2M9,P20700,O75381,Q8NCH0,Q5JRA6,P16435,P23786,P40855,Q08J23 16 |
| Petechiae 0.3298313876291325 0.1876494520461832 0.8511514576466199 1.0 1.0 10 P51798,Q16625,Q6UN15,P04062 4 |
| Protruding tongue 0.3295984867246666 0.1866385894534451 0.8519440083332306 1.0 1.0 10 Q10713,Q96RL7,P20700 3 |
| Recurrent otitis media 0.284576004978845 0.1858291405268425 0.8525787517018966 1.0 1.0 22 Q13432,Q14739,Q8N5M9 3 |
| Hypoplastic heart 0.5377744198427873 0.1849137554986546 0.8532966817220793 1.0 1.0 3 Q12768 1 |
| Elevated hemoglobin a1c 0.5369749483724569 0.1831691082852464 0.8546653322875994 1.0 1.0 3 O75431 1 |
| Accessory spleen 0.4637843935925714 0.1816640041423829 0.8558464163927031 1.0 1.0 5 O95202 1 |
| Aortic arch aneurysm 0.3487266630064909 0.1809223298713194 0.8564285413791299 1.0 1.0 8 P35250,Q15056,Q9Y4P3 3 |
| Renal hypoplasia aplasia 0.2624374265133002 0.1799003627785703 0.8572307903921164 1.0 1.0 72 Q86XL3,Q9NWS8,O43819,Q8TAA9,P62847,O43175,O43924,Q15392,Q9UHX1,Q7LGA3,P16435,P21964 12 |
| Neoplasm of the thyroid gland 0.2817300901336205 0.1798845401388521 0.8572432124009874 1.0 1.0 25 P25054,P02545,Q9UNW1,P21912,P42892,Q04656,Q969G3 7 |
| Sparse lateral eyebrow 0.3561175481901313 0.1762554881006617 0.860093229855661 1.0 1.0 7 P61978,Q08J23 2 |
| Pes planus 0.2634075523676055 0.1735394222630215 0.8622274434512682 1.0 1.0 67 Q9Y487,Q9NWM8,P02545,Q10713,Q9UHX1,Q5H8A4,O43819,P53634 8 |
| Trismus 0.5323172560800649 0.1731758836970868 0.8625131792466654 1.0 1.0 3 O43175 1 |
| Hypoplastic female external genitalia 0.3054219106489115 0.1730055873641873 0.8626470357692158 1.0 1.0 15 Q6NUK1,Q9Y619,P16435 3 |
| Recurrent pneumonia 0.2883783366901118 0.1709830901963783 0.8642370618598183 1.0 1.0 19 Q13432,P20700,P00813 3 |
| Abnormal hdl cholesterol concentration 0.5327992961488869 0.1694008917163403 0.8654813221539914 1.0 1.0 4 P02545 1 |
| Diastema 0.4586539501846219 0.1683344479115131 0.8663201750022813 1.0 1.0 5 Q8WXI9,Q9BSJ2 2 |
| Lower limb asymmetry 0.3846828367721231 0.1658762008906842 0.8682543769487516 1.0 1.0 6 P07437,Q96T58,P28482 3 |
| Abnormality of the ovary 0.2599551015749619 0.1648279593047866 0.8690793966834018 1.0 1.0 53 Q03252,Q9Y4P3,P02545,P31751,P51809,O75844,P48735,Q9NR50,Q01844,Q9UMX1,P16435,P35250,P21912 13 |
| Coronal craniosynostosis 0.4565175793500269 0.1628944142729908 0.8706015688528754 1.0 1.0 5 P16435 1 |
| Abnormal heart sound 0.5297670372411734 0.1628421095987771 0.8706427520918287 1.0 1.0 4 Q01082,P10253 2 |
| Abnormal sensory nerve conduction velocity 0.5288610718457996 0.1609044540350142 0.8721686542058342 1.0 1.0 4 O95140,O15269 2 |
| Septo optic dysplasia 0.5112016293278943 0.1608877040315968 0.872181846901734 1.0 1.0 2 Q8WWQ0 1 |
| Vestibular dysfunction 0.2756387921487934 0.1574756227747127 0.8748700183889297 1.0 1.0 29 O60220,Q15043,P06280,O15460,P21912,Q6UN15,Q9NZ08,P01889 8 |
| Neoplasm of the endocrine system 0.2691471163053864 0.1574354664832514 0.8749016637525906 1.0 1.0 37 Q02978,P25054,P02545,Q9UNW1,P48735,Q9UMX1,P21912,O75874,P42892,Q04656,Q969G3 11 |
| Abnormality of neuronal migration 0.2621567420533713 0.1563619478619752 0.8757477294066385 1.0 1.0 134 Q15058,O43175,Q10713,O43505,Q9Y320,O75381,P23786,Q2TAA5,Q08J23,Q9Y487,Q03252,P51812,P61978,O43924,P37268,Q6NUK1,P40855,Q9HC21,Q9BSJ2,Q12768,Q16625,Q15392,Q9UMX1,Q9H2M9,Q86XL3,P20700,Q96PU5,Q9H936,Q9NWS8,Q01105,Q96N66,Q8TD16,Q5KU26 33 |
| Abnormal urine metabolite level 0.2681002787706297 0.1557595585115888 0.876222549105651 1.0 1.0 146 Q02978,P11413,Q9Y619,O95470,P00367,O00330,Q5XKP0,P23786,O75431,Q03252,O43464,Q14108,P09601,Q8NFH4,Q16836,P09622,P00558,P61457,P15586,P04062,P04066,Q9UJS0,P35670,P35250,P35610,P03886,Q9BUB7,Q8N1F7,P54802,P08236,P16278,P06280,P10253,P16930,P21912,P36551,P02545,Q3ZCQ8,P00403,Q9NVI7,P53985,P35914,Q5JRA6,O96000,Q9Y4P3,Q4J6C6 46 |
| Spasticity 0.322118884183461 0.1555368360502868 0.8763981163086831 1.0 1.0 285 O95831,Q9Y320,O00330,Q5XKP0,P00846,P50897,Q9Y487,O43464,P51812,P50995,Q15165,P43243,P03886,O00429,Q9BSJ2,Q12768,O75298,Q01082,Q99720,O95140,O15118,Q9H2M9,Q86XL3,Q6PI48,O75503,Q9H0B6,P07602,Q3ZCQ8,Q9NVI7,P35637,Q9Y4P3,Q9UBX3,Q04656,Q13510,P25054,O43175,P04350,Q9Y619,Q96D71,P51648,Q6DKK2,P17900,Q9P0J0,P16278,Q15392,O43819,Q01105,Q96N66,O60220,Q8TD16,Q96CU9,Q7KZN9,Q10713,Q08J23,Q9H490,Q92804,Q9UBB4,P04062,P04066,P40855,P35610,P07686,Q16625,P20700,Q5THJ4,P21912,Q5KU26,Q9NZJ7,P11117,Q96AA3,Q15043,O43505,O75381,O60313,Q2TAA5,P09622,O75746,P35250,P09651,Q9H936,O00400,O43292,Q9Y4W6,Q9NR50,P35914,Q8WVX9 86 |
| Abnormal posterior segment imaging 0.5258959576833382 0.1546336758456477 0.8771101198230693 1.0 1.0 4 P04439,Q96S66 2 |
| Delayed fine motor development 0.3217945548136076 0.153450884680713 0.8780427198345868 1.0 1.0 10 Q01082,Q5KU26,P16435 3 |
| Recurrent bronchitis 0.5218511150755134 0.1517931451899483 0.879350088830473 1.0 1.0 3 Q03519 1 |
| Neonatal death 0.3072608161277048 0.1516542235962733 0.8794596637276657 1.0 1.0 14 Q9NVI7,Q14739,P04062,O96000,Q6NUK1 5 |
| Neoplasm of the skin 0.2693423377546024 0.1514914160121041 0.8795880817220625 1.0 1.0 36 P14324,P25054,Q01082,P02545,P11802,P18074,Q9UMX1,Q13043,P16615,P53634,P21912,Q969G3 12 |
| Sudden death 0.2774954009095612 0.1510915806393225 0.8799034739323872 1.0 1.0 25 P50416,P50402,P02545,Q9H845,O15460,P35250,P01889 7 |
| Prolonged partial thromboplastin time 0.5240737638672918 0.1508341012519334 0.8801065850939167 1.0 1.0 4 P49257,O60762 2 |
| Keratitis 0.3317998756978699 0.1495798483219069 0.8810961080011528 1.0 1.0 9 Q14739 1 |
| Central nervous system cyst 0.2577496183345085 0.1486222405337542 0.8818517225094513 1.0 1.0 52 Q9Y487,Q9BSJ2,Q12768,O43175,O43505,O00330,P00846,O95202,Q9UHX1,P23786,Q8WVX9 11 |
| Pharyngitis 0.5201187379170671 0.1483978960710535 0.882028760381437 1.0 1.0 3 O15460 1 |
| Abnormal heart valve physiology 0.2547569758726927 0.1480812541735568 0.8822786433373508 1.0 1.0 80 P55263,P09493,P00813,Q9UHX1,O75431,P51812,P04062,P35250,Q6NUK1,P53701,Q12768,Q01082,P16278,P06280,Q15233,O43819,Q9NZ08,Q96PU5,P01889,P02545,Q15904,O75844,Q8WVX9 23 |
| Bilateral ptosis 0.306460543326445 0.1477734156868339 0.8825215901756458 1.0 1.0 14 O43819,O60313,Q5T8D3,O00330 4 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2548270764691951 0.1474150893468424 0.8828043960612875 1.0 1.0 121 O95831,Q13510,P02545,P62847,Q9Y619,O75844,P13073,Q14739,O95202,Q9UHX1,Q5H8A4,P16435,O00116,Q08J23,Q03164 15 |
| Impaired distal vibration sensation 0.4498395931120464 0.1463152379568143 0.8836725371617427 1.0 1.0 5 P20700 1 |
| Anteverted ears 0.503394433129653 0.1462271903044938 0.8837420415009012 1.0 1.0 2 P27635 1 |
| Abnormality of the auditory canal 0.2805326798363762 0.1457495641361988 0.8841190925875899 1.0 1.0 21 Q9Y619,P16435 2 |
| Dyscalculia 0.3197844562660017 0.1451240747956773 0.8846129105664289 1.0 1.0 10 P35637,P22626 2 |
| Abnormal upper limb bone morphology 0.2484957697325711 0.1432351917300063 0.8861044373798466 1.0 1.0 86 P25054,P48651,Q14739,Q9UHX1,P16435,O75431,P98175,Q08J23,O00116,Q8WXI9,P51812,O43924,O95202,P35250,Q6NUK1,Q32P28,P51798,P08236,Q9H9E3,P16278,Q7LGA3,Q15233,Q9UMX1,Q9H2M9,P53634,P02545,O75844,Q9Y4P3,Q04656 29 |
| Abnormality of the amniotic fluid 0.2543307327432548 0.1427523898599784 0.8864857392563765 1.0 1.0 80 Q15058,P02545,O43175,O75844,Q14739,Q9BT22,Q9UHX1,P04062,Q7LGA3,Q70HW3,P23786,P21964,P16435,Q9BUB7 14 |
| Cholestasis 0.2602003051983694 0.1423462055551828 0.8868065513259928 1.0 1.0 69 P55263,O75845,P36551,Q13510,P11413,Q16625,Q15904,O75381,Q14739,O15118,Q13043,Q9UJS0,P35670,P40855 14 |
| Resting tremor 0.2888137256822298 0.1400628224154419 0.8886103543973303 1.0 1.0 17 Q9NZJ7,P12235,P07602,Q96RL7,P04062,Q06787 6 |
| Abnormality of upper limb epiphysis morphology 0.3088065583314099 0.1389780095250467 0.8894675262493112 1.0 1.0 13 P82673,P51812,Q9H9E3,O95202,Q5JRA6,P16435 6 |
| Delayed eruption of teeth 0.2597355306123697 0.1351411900128748 0.8925002439544953 1.0 1.0 42 Q9Y487,P02545 2 |
| Benign neoplasm of the central nervous system 0.2806606990289428 0.1350009479263543 0.8926111248562847 1.0 1.0 20 Q02978,P02545,O43924,Q9UMX1,P21912 5 |
| Joint subluxation 0.4441283467486974 0.1326551556555315 0.8944661099284137 1.0 1.0 5 P16278 1 |
| Speech articulation difficulties 0.5113752122241154 0.1318888706698769 0.8950721916463567 1.0 1.0 3 P08754,P21359 2 |
| Rhabdomyolysis 0.3069634092780516 0.1305564416465175 0.8961262022303187 1.0 1.0 13 P23786 1 |
| Cutaneous cyst 0.4425360404321231 0.1289330759297949 0.8974106042877703 1.0 1.0 5 Q8TAA9 1 |
| Abnormal t cell morphology 0.3023910363721594 0.1283097148603028 0.897903877309052 1.0 1.0 14 Q13432 1 |
| Neoplasm of the nervous system 0.2570665868028768 0.1271669650261243 0.8988082511576065 1.0 1.0 43 P07437,Q02978,P25054,Q01082,P02545,O43924,P48735,Q01844,Q9UMX1,P21912,O75874 11 |
| Hypodontia 0.260234140537093 0.1255416149075023 0.9000947816907185 1.0 1.0 41 P02545,O75844,Q5H8A4,O75431,Q15067 5 |
| Lower limb amyotrophy 0.2805831115919245 0.1249811593911896 0.9005384660033613 1.0 1.0 19 O00400,Q9H0B6,O75298,P02545,O95140,Q8TD16 6 |
| Abnormality of the hypothalamus pituitary axis 0.2581120112355729 0.1243095900066027 0.9010701544719808 1.0 1.0 58 Q12768,O76024,P25054,Q4J6C6,Q10713,P51809,O75874,P48735,P33991,Q9UHX1,Q15233,Q9UMX1,P16435,Q9BUK6,Q03164,Q969G3 16 |
| Juvenile cataract 0.3395977072107955 0.1213865502587663 0.9033848694420836 1.0 1.0 7 Q8WVX9 1 |
| Abnormal circulating igm level 0.304750296875972 0.1205646407425055 0.904035877085854 1.0 1.0 13 P00813,Q15904 2 |
| Abnormality of the urinary system physiology 0.3105503057957278 0.1204505807683068 0.9041262253680618 1.0 1.0 255 O43676,O00330,Q5XKP0,P00846,O75880,O43464,Q14108,P09601,P00558,Q9BQT8,O15460,Q8NCH0,P03886,Q01082,P54802,P08236,Q13423,P01889,P02545,Q3ZCQ8,P00403,Q9NVI7,Q9H845,Q5JRA6,O96000,Q9Y4P3,Q04656,Q02978,P25054,Q9Y619,O95470,Q86Y39,P23786,O43772,P61457,P15586,Q9BT22,P16278,Q8IUX1,O43819,P16930,Q9NZ08,Q96CU9,P50416,Q10713,P00813,P48735,O75431,Q9NPL8,Q8NFH4,P04062,P04066,Q9UJS0,Q9Y6M9,P40855,P35610,Q8TAA9,O76024,Q16625,P20700,Q9NWS8,P36551,P53985,P21912,Q4J6C6,P11413,P00367,Q03252,Q16836,P09622,P05023,P35250,P35670,Q9HC21,Q9BUB7,P49257,Q8N1F7,P06280,Q07021,Q13043,P10253,P35914,Q6UN15 83 |
| Pleural effusion 0.3046929961953433 0.1197814558578809 0.9046562722477558 1.0 1.0 11 Q14739,Q9NZ08,Q13043 3 |
| Disproportionate short trunk short stature 0.4385112120403102 0.1196943087232755 0.9047253089278804 1.0 1.0 5 P16278 1 |
| Periauricular skin pits 0.3046558292892758 0.1196247802450996 0.9047803888836276 1.0 1.0 11 P61978 1 |
| Abnormal cortical gyration 0.2507901033750194 0.119606113535926 0.9047951765931634 1.0 1.0 117 Q15058,O43175,Q10713,O43505,O75381,P23786,Q08J23,Q9Y487,Q03252,P37268,P40855,Q16625,Q15392,Q86XL3,P20700,Q9NWS8,Q01105,Q96N66,Q8TD16,Q5KU26 20 |
| Nyctalopia 0.2701504970295099 0.1186071047910674 0.9055866362807912 1.0 1.0 29 Q96S66,Q10713,O75381,Q13432,P40855 5 |
| Abnormal neural tube morphology 0.2606340279826746 0.1167341001282773 0.9070707670062548 1.0 1.0 40 O75845,Q8TAA9,O43175,Q10713,Q9UHX1,P35250,P21964,Q08J23 8 |
| Ectopic kidney 0.2878216097877433 0.1158499990057578 0.907771423779682 1.0 1.0 16 Q8TAA9,P25054,Q9UHX1,Q9Y4P3,P35250 5 |
| Impairment in personality functioning 0.2829424686904506 0.1155665361921684 0.9079960854061836 1.0 1.0 184 Q9NZJ7,Q02978,Q7KZN9,O43175,Q96RL7,O43681,Q9BUK6,P50897,Q08J23,Q03164,Q969G3,Q8WXI9,O43464,P51812,Q92804,P00558,P50995,O15460,Q15165,Q9UBB4,P04062,P35250,P21964,P35670,P43243,Q6DKK2,P03886,P17900,Q8TAA9,Q9P0J0,O76024,Q01082,P06280,P09651,Q7LGA3,Q15233,Q9UMX1,P35637,P16615,Q13043,P20700,P01889,O75503,P21912,P36551,Q96N66,P55795,P07602,P00403,Q9Y4W6,Q9NR50,Q9Y4P3,Q96CU9 53 |
| Sparse eyebrow 0.2689415488015714 0.114016601224432 0.9092246333889252 1.0 1.0 30 P61978,P02545,O75844,O75431,Q08J23 5 |
| Protruding ear 0.2610987307862419 0.109991946323012 0.9124157620633648 1.0 1.0 39 P51812,P61978,Q9BSJ2,P25054,Q01082,Q13555,O43505,Q8NCH0,Q06787,Q9Y4P3,P35250,P20700,Q15056,Q08J23 14 |
| Gastroparesis 0.3288476820896197 0.1098017623162433 0.9125665933713648 1.0 1.0 8 O43464,P61978,Q04656,Q9BUB7 4 |
| Dermatological manifestations of systemic disorders 0.2576213852182657 0.1097508066242225 0.912607005893959 1.0 1.0 67 P36551,O43772,P11413,P02545,Q16625,Q15904,O75381,O75844,Q14739,O15118,P04066,Q13043,Q9UJS0,P35670,P40855 15 |
| Fat malabsorption 0.3207989592828473 0.1085605239553986 0.913551072956188 1.0 1.0 9 Q14739 1 |
| Physical urticaria 0.4803122878479258 0.1082880340821074 0.9137672142179004 1.0 1.0 2 Q9Y5L0 1 |
| Abnormal pupillary function 0.432943579810255 0.1073174692606574 0.9145371261112772 1.0 1.0 5 Q9NZJ7,P07602 2 |
| Non midline cleft lip 0.4971137521222485 0.1072085425062329 0.9146235385514774 1.0 1.0 3 O60716,Q9NXE4 2 |
| Absent hypoplastic paranasal sinuses 0.4969956487039313 0.1070157547661387 0.9147764810357704 1.0 1.0 3 P04066 1 |
| Vertebral fusion 0.3016966875108298 0.1069980382216936 0.9147905360937116 1.0 1.0 13 O95202,Q9UHX1 2 |
| Esodeviation 0.2643169133232763 0.1065908324453935 0.915113591797326 1.0 1.0 35 O43175,O43924,Q9UHX1,P04062,P20700 5 |
| Hemoptysis 0.5004096726374585 0.10528048537397 0.9161532473270232 1.0 1.0 4 Q9NZ08 1 |
| Sclerosis of skull base 0.4958189802617793 0.1051053629842959 0.9162922038318836 1.0 1.0 3 Q14739 1 |
| Gynecomastia 0.282308913185712 0.1050965575090251 0.916299190887638 1.0 1.0 17 Q01082,P31751,P51809,P21912,Q8NI60 5 |
| Misalignment of incisors 0.500270740597985 0.1050339912512027 0.916348836767908 1.0 1.0 4 Q8WXI9,Q9BSJ2 2 |
| Bifid uvula 0.2633889504677556 0.1047797933945916 0.9165505443113312 1.0 1.0 36 Q15058,P61978,O43175,P78318,Q9Y619,Q15392 6 |
| Increased hepatocellular lipid droplets 0.4775967413441907 0.1043462162630925 0.9168946027890676 1.0 1.0 2 P42704 1 |
| Midface retrusion 0.2558155079637093 0.103564766928374 0.9175147491815128 1.0 1.0 72 Q9Y487,O95831,P02545,P55795,Q8TD16,Q14739,Q9HC07,P16435,P53701 9 |
| Focal cortical dysplasia 0.4758995247793585 0.101937155576493 0.9188065576754356 1.0 1.0 2 Q8WUM0 1 |
| Abnormal phalangeal joint morphology of the hand 0.2671044283635106 0.1011440105677423 0.9194361417752112 1.0 1.0 30 P02545,Q9Y619,O75844,P16435 4 |
| Pituitary growth hormone cell adenoma 0.4926994906621471 0.100131652630548 0.9202398064400994 1.0 1.0 3 P10644,O00170 2 |
| Pancreatic cysts 0.4926994906621466 0.1001316526305469 0.9202398064401004 1.0 1.0 3 Q9NQH7,Q9Y5S9 2 |
| Hypogonadotropic hypogonadism 0.2702268208958757 0.0993129175262342 0.920889822419455 1.0 1.0 24 Q9H2M9,P00403,Q9UMX1,Q9Y4P3,P35250,P03886,Q969G3 7 |
| Caesarian section 0.4962447301897024 0.0979977350373674 0.9219340918904022 1.0 1.0 4 O60313 1 |
| Aplasia hypoplasia of the eyebrow 0.2616602796938111 0.0977957908386043 0.9220944497873416 1.0 1.0 37 P61978,P02545,P00813,O75844,O75431,Q08J23 6 |
| Spastic dysarthria 0.3251721254653121 0.097558949598683 0.9222825224240412 1.0 1.0 8 Q9H2M9,Q9Y4W6,Q8WVX9 3 |
| Abnormal blood gas level 0.4899830220713149 0.0959077972345579 0.9235938018330474 1.0 1.0 3 A5YKK6,Q9Y3E5 2 |
| Abnormal metatarsal morphology 0.2696527794543372 0.0957034119892556 0.923756130965994 1.0 1.0 24 Q03252,O43505,P08236,Q15392,O95202,P16435,Q08J23 7 |
| Abnormal circulating hormone concentration 0.2519105733176978 0.0948773826824411 0.9244122214698136 1.0 1.0 78 Q02978,P51809,P00367,O00330,P16435,O75431,Q03164,Q969G3,Q16836,Q8WWY3,P31751,Q12768,Q13423,Q9UMX1,P02545,P53985,O75844,Q9NR50,P21912,Q4J6C6 20 |
| Sporadic 0.2700121532631251 0.0935087075849391 0.925499432353896 1.0 1.0 22 Q03252,P51812,Q9BWD1,P48651,O95202,P04062,P21912 7 |
| Astrocytoma 0.3065848117573515 0.09284483156287 0.926026834367687 1.0 1.0 10 P25054,P48735 2 |
| Increased head circumference 0.2417575233515991 0.0909722191675715 0.927514665394569 1.0 1.0 104 P55263,Q9NZJ7,Q10713,P48651,O43505,O75381,Q14739,P51812,P40855,Q12768,Q01082,P07686,P08236,Q15392,P50570,Q7LGA3,Q15233,P02545,Q13555,P07602,P78318,Q8TD16,O75844,Q9NR50,P21912,Q8WVX9 26 |
| Flared metaphysis 0.3295397228031284 0.090641337912186 0.9277775842035112 1.0 1.0 7 Q14739,P48651,Q96HY6 3 |
| Abnormality of the humerus 0.297534503970599 0.0902850865189306 0.9280606709819396 1.0 1.0 11 P48651,O00116,P16435 3 |
| Elfin facies 0.3294086428723951 0.0902545486533602 0.9280849376017356 1.0 1.0 7 P35250,Q9Y4P3 2 |
| Partial agenesis of the corpus callosum 0.3058557490392237 0.0900835640290662 0.9282208101162506 1.0 1.0 10 Q9HC21,Q15392 2 |
| Broad phalanx of the toes 0.4911516934162117 0.0893921798568615 0.9287702381616096 1.0 1.0 4 Q7LGA3 1 |
| Pseudoepiphyses of the metacarpals 0.4910510157239219 0.0892253930676163 0.9289027851089416 1.0 1.0 4 O95202 1 |
| Hypointensity of cerebral white matter on mri 0.4242842873822193 0.0890079486915043 0.9290755930534872 1.0 1.0 5 P07602 1 |
| Large basal ganglia 0.2969907884525644 0.0866042317195455 0.9309861021158428 1.0 1.0 13 Q96N66 1 |
| Progressive leukoencephalopathy 0.4835314091680897 0.0862738497651552 0.9312487258165052 1.0 1.0 3 Q5JTZ9,Q9Y263 2 |
| Early onset of sexual maturation 0.2591313420215855 0.0854832618670947 0.9318772018546202 1.0 1.0 38 P35250,P02545,Q13423,P48735,O95202,Q7LGA3,Q5JRA6,Q9Y4P3,O75874,Q15056,Q9H936 11 |
| Hypoplasia of the iris 0.4224112841985302 0.0851992029795497 0.9321030242091372 1.0 1.0 5 O95202 1 |
| Recurrent respiratory infections 0.2488187642850907 0.0838635690132546 0.9331649052010548 1.0 1.0 118 Q9NZJ7,Q13510,P00813,Q5H8A4,Q9Y487,Q9NPL8,P09601,P15586,O95202,O15460,P04062,P04066,P35250,Q12768,P54802,P08236,P16278,Q8N5M9,Q9H2M9,Q13432,P53634,P20700,P10253,Q9H936,P07602,P78318,P33991 27 |
| Pes cavus 0.235668962787815 0.0835861706312552 0.933385462692347 1.0 1.0 94 O95831,Q10713,Q96RL7,Q14739,O60313,Q9BUK6,Q08J23,P05023,P04062,Q8NI60,O00429,Q12768,O75298,Q99720,O95140,P50570,Q7LGA3,O15269,O00400,Q9H0B6,P02545,Q96BR5,Q5THJ4,Q04656,Q9NW15,Q8WVX9 26 |
| Epiretinal membrane 0.4811763782040918 0.0828956409541444 0.9339345201278904 1.0 1.0 3 P04439 1 |
| Craniofacial osteosclerosis 0.480896093008021 0.0824984823678669 0.934250325117438 1.0 1.0 3 Q15043 1 |
| Aphasia 0.2615705348270781 0.0822207325140101 0.9344711871002012 1.0 1.0 34 P00403,P22626,P21964,P03886,P53701 5 |
| Proximal muscle weakness in upper limbs 0.2921859700154595 0.0815887687074816 0.9349737327901624 1.0 1.0 14 P02545,P50402,P36551,O95140 4 |
| Expressive language delay 0.3200891520270706 0.0811211880221808 0.9353455756126416 1.0 1.0 8 Q9UHX1 1 |
| Progressive extrapyramidal movement disorder 0.4787775891341338 0.079530198511097 0.9366109127402924 1.0 1.0 3 Q9BPX6,P54136 2 |
| Neoplasm of the parathyroid gland 0.4194949013349911 0.0793765450614255 0.936733124095682 1.0 1.0 5 P48735,O75874 2 |
| Abnormality of the parathyroid morphology 0.4194949013349911 0.0793765450614255 0.936733124095682 1.0 1.0 5 P48735,O75874 2 |
| Parathyroid adenoma 0.4194949013349911 0.0793765450614255 0.936733124095682 1.0 1.0 5 P48735,O75874 2 |
| Abnormality of the cervical spine 0.23755714619911 0.0785598784463729 0.9373827012258302 1.0 1.0 98 P50402,O95831,P62847,O43175,P78318,P16278,Q5SRE5,P15586,Q9UHX1,Q7LGA3,P04066,P21964,Q8NCH0,Q96HY6 14 |
| Genital neoplasm 0.2605517228541703 0.0783682457788592 0.9375351320209908 1.0 1.0 35 P25054,P02545,P51809,Q13423,P48735,Q01844,Q9UMX1,P21912 8 |
| Fibroadenoma of the breast 0.4777209888124598 0.0780718880223922 0.937770869030108 1.0 1.0 3 P25054 1 |
| Brain neoplasm 0.4833559782608847 0.0768581840075686 0.9387363634308056 1.0 1.0 4 P25054,P21359,Q07864 3 |
| Abnormal cerebral vascular morphology 0.2539816344560557 0.0768338375515548 0.9387557318194936 1.0 1.0 60 Q96AA3,Q02978,P23786,P04062,P35250,P03886,P49257,O76024,Q01082,P06280,Q9UMX1,P10253,P21912,P02545,P00403,O75844,Q9H845,Q9Y4P3,Q04656 19 |
| Hyperactive deep tendon reflexes 0.3116752922888415 0.0766452171409522 0.9389057866485492 1.0 1.0 9 O60220,P21912 2 |
| Odontogenic neoplasm 0.4764588271360626 0.0763490859956064 0.9391413747980846 1.0 1.0 3 Q9UMX1 1 |
| Focal white matter lesions 0.476061120543302 0.0758105575025482 0.9395698166266288 1.0 1.0 3 P12235,Q9H2P0 2 |
| Enlarged kidney 0.4170868383536716 0.0746678675794845 0.940478974236448 1.0 1.0 5 P23786 1 |
| Insomnia 0.2853636684593091 0.074449641536396 0.9406526101336432 1.0 1.0 15 O43464,P36551,P35250,Q9Y4P3,Q9UJS0,Q10471 6 |
| 2 3 toe syndactyly 0.265636121220643 0.0741964355464229 0.9408540820572504 1.0 1.0 25 Q96PU5,P37268,Q9UHX1,O43924 4 |
| Abnormal rectum morphology 0.2638941543698643 0.0740017578589225 0.9410089865287709 1.0 1.0 28 P51812,Q8TAA9,Q9Y4P3,Q9NX14,P21912,P35250,Q08J23,P53701 8 |
| Adrenocorticotropin deficient adrenal insufficiency 0.4528173794976223 0.0732129030972966 0.9416366987574524 1.0 1.0 2 O00170 1 |
| Abnormal serum insulin like growth factor 1 level 0.4528173794976223 0.0732129030972966 0.9416366987574524 1.0 1.0 2 O00170 1 |
| Abnormality of the metaphysis 0.2469815561055081 0.0719606889448155 0.9426331923864236 1.0 1.0 45 O95831,P00813,P16278,Q14739,Q9HC07 5 |
| Vocal cord paralysis 0.2710343085469516 0.0715906348093808 0.9429276932913322 1.0 1.0 19 P50402,P02545,O95140,P21912,P43243 5 |
| Glycosuria 0.3101397304716746 0.0714696306566796 0.9430239939570422 1.0 1.0 9 P02545,P35670 2 |
| Pelvic kidney 0.3100203993192654 0.0710698372761152 0.9433421738163824 1.0 1.0 9 P35250,Q9UHX1,Q9Y4P3 3 |
| Retinal dystrophy 0.2473925893985911 0.0703418203673992 0.9439215970838836 1.0 1.0 49 Q10713,O43505,O75381,P00846,P03886,P40855,Q5T8D3,Q15067,P53701 9 |
| Abnormal circulating igg level 0.2924151685625459 0.0700553136098123 0.9441496338445874 1.0 1.0 11 P00813 1 |
| Chorioretinal dysplasia 0.3490320984997246 0.069752273508402 0.9443908348222112 1.0 1.0 6 O43505,P53701 2 |
| Bloody diarrhea 0.4787061540476088 0.0697482417524543 0.944394043882336 1.0 1.0 4 P25054,Q6PGP7 2 |
| Delayed social development 0.4702886247877844 0.0682259062167377 0.9456058048360838 1.0 1.0 3 Q9UJX6,Q13509 2 |
| Rigidity 0.2484765048165591 0.0662265840992967 0.9471974321796748 1.0 1.0 51 Q9NZJ7,O43464,P12235,P04350,P07602,P16278,Q15392,Q9Y4W6,P00846,P04062,Q06787,O43681,Q8NBU5,Q96F07,Q96CU9 15 |
| Abnormality of the small intestine 0.2462947196522506 0.0659361524451736 0.947428657708397 1.0 1.0 45 P36551,O95202,Q14739,Q9BT22,Q14566,Q8NCH0 6 |
| Fibrous tissue neoplasm 0.2709534145645623 0.0653191683308575 0.9479198808133912 1.0 1.0 18 Q01082,P25054,Q15392,Q9UMX1,P21912,Q13126,Q969G3 7 |
| Abnormal fallopian tube morphology 0.3202681258725172 0.0641880332492745 0.9488205058292594 1.0 1.0 7 P53701 1 |
| Hypoplasia of the ear cartilage 0.4648556876061206 0.0614790058678741 0.9509777336644948 1.0 1.0 3 Q8WUM0,P57740 2 |
| Chronic infection 0.3137048365741145 0.0613060835003178 0.951115445984988 1.0 1.0 8 P51798,Q6UN15,O75533 3 |
| Intellectual disability mild 0.242776758606337 0.0591619775948848 0.9528230940538538 1.0 1.0 110 Q10713,P00846,Q9BUK6,Q08J23,P51812,Q6P4A7,Q9BT22,Q15800,Q6NUK1,P21964,P35610,P16278,Q7LGA3,Q15233,Q9UMX1,P16615,Q01105,Q96N66,Q5JRX3,O43292,Q15904,Q5THJ4,Q9Y4W6,P35914,Q9NW15 25 |
| Abnormal ureter physiology 0.2491349843035595 0.0589453724293038 0.9529956188824328 1.0 1.0 43 Q86XL3,P61978,Q15058,Q8TAA9,Q9UHX1,P16435,P21964,P21912 8 |
| Exostoses 0.4085321025431048 0.0586660508524116 0.9532181002399562 1.0 1.0 5 P48735,Q04656 2 |
| Bowel diverticulosis 0.312546756895575 0.05781275858684 0.9538977752954244 1.0 1.0 8 P35250,Q9Y4P3 2 |
| Phimosis 0.4607809847198718 0.0566638152611932 0.954812998919656 1.0 1.0 3 O60828,Q9UJX6 2 |
| Aplasia hypoplasia of the 4th metacarpal 0.4605760986852893 0.0564271749214881 0.9550015089813252 1.0 1.0 3 Q14739 1 |
| Abnormality of the 4th metacarpal 0.4605760986852893 0.0564271749214881 0.9550015089813252 1.0 1.0 3 Q14739 1 |
| Increased circulating gonadotropin level 0.2965656328259384 0.0561169312062333 0.9552486560398796 1.0 1.0 10 P51809,P57740,Q06787,P16435 4 |
| Increased circulating prolactin concentration 0.3430871060388579 0.0560239641668615 0.9553227164945306 1.0 1.0 6 Q9BUK6,Q9UMX1 2 |
| Wide intermamillary distance 0.2679241517991009 0.054960688486229 0.956169782472811 1.0 1.0 19 P07437,P61978,Q9UM00,Q5SRE5,P23786 5 |
| Chronic otitis media 0.2628392290473258 0.0539383964961453 0.9569842451973378 1.0 1.0 24 O95202,Q5H8A4,Q06787,Q9Y4P3,P35250,P21964,Q15056 7 |
| Abnormal serum iron concentration 0.4674456866825354 0.0536527183598548 0.957211853787172 1.0 1.0 4 Q6PGP7,Q9Y276 2 |
| Diabetes insipidus 0.2887407701913715 0.0524195188099312 0.9581944217358148 1.0 1.0 13 O15460,P06280,O76024 3 |
| Abnormal paranasal sinus morphology 0.2645181506194067 0.0511243831614552 0.9592264064423712 1.0 1.0 21 Q13432,P00813 2 |
| Generalized abnormality of skin 0.2836156288089181 0.0511243005979538 0.9592264722324804 1.0 1.0 196 Q02978,P11413,O43175,P48651,P00813,O75381,P00846,Q14739,O75431,P98175,Q08J23,Q9Y487,Q03252,P51812,Q9NWM8,Q14108,P14324,O43772,P10619,Q9NX14,P37268,P04062,P04066,P51648,Q9UJS0,Q6NUK1,P21964,P40855,Q8NCH0,P03886,Q92990,P53701,P35250,P35670,P49257,Q01082,P51798,Q16625,Q9H9E3,P16278,P06280,O15118,Q8WVM7,O15269,Q13043,Q9H2M9,Q8IZA0,Q15056,P01889,P21912,P36551,P22830,P02545,Q96EV8,P00403,O75844,Q15904,P35914,Q9Y4P3,Q6UN15,Q04656 61 |
| Aqueductal stenosis 0.4650135869565269 0.0503828624128609 0.9598172928542776 1.0 1.0 4 Q8WUM0,P57740,P21359 3 |
| Facial telangiectasia 0.4280380176510361 0.0501386216037431 0.9600119228376848 1.0 1.0 2 Q07864 1 |
| Abnormal blood potassium concentration 0.2946931778843827 0.0495510355961629 0.9604801665956716 1.0 1.0 10 Q13423 1 |
| Distal arthrogryposis 0.4025353449965043 0.048124068094269 0.9616173648593898 1.0 1.0 5 Q8NCH0 1 |
| Ptosis 0.2871268079445171 0.048045308906223 0.9616801329933052 1.0 1.0 205 Q9NZJ7,Q7KZN9,O43676,Q10713,O95470,O75381,Q86Y39,Q9UHX1,Q5H8A4,Q08J23,Q03164,Q9NPL8,P61978,P62847,O95202,P04062,P21964,Q9Y6M9,P40855,P03886,P50402,Q9P0J0,O76024,Q7LGA3,Q8IUX1,O43819,Q86XL3,Q5T8D3,P02545,P07602,Q96A33,O96000,P35637,O75845,Q96CU9,Q9NW15,Q4J6C6 37 |
| Uncombable hair 0.424643584521385 0.0475429496396807 0.962080500155506 1.0 1.0 2 Q6PGP7 1 |
| Abnormal 3rd finger morphology 0.4229463679565483 0.0462925715148059 0.9630770600360192 1.0 1.0 2 Q9Y3E5 1 |
| Abnormal renal insterstitial morphology 0.2856276786961836 0.0443939527155494 0.964590381932272 1.0 1.0 11 P35250,P23786,Q9Y276,Q9Y4P3 4 |
| Corneal dystrophy 0.4597479164942752 0.043551464212652 0.9652619409046824 1.0 1.0 4 P12235,P06280 2 |
| Aplasia hypoplasia involving the metacarpal bones 0.2630603450528079 0.0430289679748274 0.9656784421277228 1.0 1.0 21 P51812,Q32P28,Q14739,Q9UMX1,P16435 5 |
| Trichorrhexis nodosa 0.4464044713463123 0.0413001525465046 0.967056611461044 1.0 1.0 3 P18074 1 |
| Generalized dystonia 0.457900727577844 0.0412347954449411 0.9671087144985656 1.0 1.0 4 O60220 1 |
| Talipes valgus 0.398371862469993 0.041131032361717 0.9671914352822976 1.0 1.0 5 Q15233 1 |
| Abnormality of the lower urinary tract 0.2812060485887586 0.0409289156656586 0.9673525653882472 1.0 1.0 192 Q9NZJ7,Q15058,P48651,Q9Y619,P51809,O75381,P22626,Q9UHX1,Q5H8A4,O43681,P16435,Q10471,Q08J23,Q969G3,Q8WXI9,P51812,Q9NWM8,P61978,Q9NX14,P62847,O95202,P37268,Q9UBB4,P04062,Q9UJS0,P21964,P40855,P35250,Q8NCH0,Q9BUB7,O15344,P53701,Q8TAA9,Q12768,O76024,O75298,Q01082,Q99720,P07686,P09651,P51571,P50570,Q9UMX1,P35637,Q86XL3,P20700,Q6PI48,P01889,P21912,P07437,P02545,P07602,Q3ZCQ8,O75844,Q9Y4P3,Q9UBX3,Q04656,Q8WVX9 58 |
| Pain insensitivity 0.4453743656140708 0.0402937613701769 0.967858927447002 1.0 1.0 3 O15269 1 |
| Antiphospholipid antibody positivity 0.4124236252545785 0.0392165402687344 0.9687177465529152 1.0 1.0 2 P42224 1 |
| Chronic noninfectious lymphadenopathy 0.4124236252545774 0.0392165402687336 0.968717746552916 1.0 1.0 2 Q9UNW1 1 |
| Decreased activity of the pyruvate dehydrogenase complex 0.2623438149452915 0.0390838335740083 0.9688235500601144 1.0 1.0 21 Q96CU9,Q9P0J0 2 |
| Self mutilation 0.3060857339710014 0.0389030592291847 0.9689676775048937 1.0 1.0 8 Q8WXI9,Q10713,Q96RL7 3 |
| Atrophy degeneration affecting the central nervous system 0.3123579138338354 0.0383694911745368 0.9693930855778166 1.0 1.0 278 P55263,Q9NZJ7,O95831,Q13510,Q96AA3,Q10713,Q9Y619,Q96RL7,Q15043,Q9Y320,O00330,P00846,Q86Y39,O75880,P22626,Q5H8A4,Q9UHX1,O60313,Q2TAA5,P50897,Q08J23,O43464,P51812,O14773,Q9H490,Q92804,O43924,P13073,P50995,Q9BT22,Q15165,P04062,P04066,P35250,P40855,P43243,Q6DKK2,P03886,Q9BUB7,O00429,P17900,Q12768,O76024,O75298,Q01082,Q99720,P08236,P16278,Q16625,P09651,O15118,Q7LGA3,Q9H2M9,O43819,P20700,O75503,Q9NWS8,Q9H936,O00400,Q01105,Q96N66,Q5JRX3,O60220,P07602,P00403,Q8TD16,O75208,P51572,Q96A33,P35637,O75845,Q5KU26,Q8WVX9 73 |
| Primary gonadal insufficiency 0.299868390123102 0.0383548570097767 0.9694047533632936 1.0 1.0 9 Q9NR50,O76024 2 |
| Abnormal circulating porphyrin concentration 0.4424095399683925 0.0374655436364178 0.9701138130427884 1.0 1.0 3 P36551 1 |
| Cervical spinal canal stenosis 0.4073319755600733 0.0361899154277837 0.971130927046406 1.0 1.0 2 Q8IWS0 1 |
| Ectopia lentis 0.3952438480455097 0.0360522364153321 0.971240707364382 1.0 1.0 5 Q03519,O75533 2 |
| Abnormal number of teeth 0.2505563809360109 0.0348390465843974 0.9722080848462102 1.0 1.0 65 P61978,P02545,O75844,O95202,Q9UHX1,Q5H8A4,O75431,P53634,Q15067 9 |
| Episodic ataxia 0.4394508542349729 0.0347430507520486 0.972284632097642 1.0 1.0 3 Q9H936 1 |
| Absent thumbnail 0.4394508542349729 0.0347430507520486 0.972284632097642 1.0 1.0 3 Q9H936 1 |
| Increased circulating cortisol level 0.4042769857433818 0.0344911434381329 0.9724855046604172 1.0 1.0 2 P10644 1 |
| Abnormal urine hormone level 0.4042769857433818 0.0344911434381329 0.9724855046604172 1.0 1.0 2 P10644 1 |
| Increased urinary cortisol level 0.4042769857433818 0.0344911434381329 0.9724855046604172 1.0 1.0 2 P10644 1 |
| Adrenocorticotropic hormone deficiency 0.4042769857433789 0.0344911434381315 0.9724855046604184 1.0 1.0 2 O00170 1 |
| Multifocal seizures 0.4382223974943097 0.0336415797816301 0.9731629651487216 1.0 1.0 3 Q10471 1 |
| Oral cleft 0.2600349040141859 0.0334736075002757 0.9732969121975672 1.0 1.0 147 Q15058,O43175,Q10713,Q9Y619,O43505,Q14739,Q9UHX1,Q5H8A4,P16435,Q08J23,Q9NWM8,P61978,P62847,O43924,Q5SRE5,O95202,P21964,Q8NCH0,Q9HC21,Q8TAA9,Q15392,Q7LGA3,Q15233,Q96PU5,P02545,P78318,O75844,Q5T8D3 28 |
| Excessive salivation 0.2583358649998908 0.0334228677080101 0.9733373740540472 1.0 1.0 26 Q03252,P51812,Q01082,P55795,Q96RL7,P15586,Q15233,P35670,Q9BVA1,P01889 10 |
| Abnormality of macular pigmentation 0.437691001697802 0.0331703238938515 0.9735387631964334 1.0 1.0 3 Q9UM00,P55265 2 |
| Obstructive sleep apnea 0.2823652145430014 0.0325449006377511 0.9740375094467566 1.0 1.0 11 P51114,Q96A33,P42704,Q15233,P53007 5 |
| Joint swelling 0.3036767883140745 0.0321073016951649 0.9743864805031132 1.0 1.0 8 Q13510 1 |
| Phonophobia 0.3317814651777407 0.031797889633361 0.9746332296154934 1.0 1.0 6 P35250,Q9Y4P3 2 |
| Overfriendliness 0.3317814651777407 0.031797889633361 0.9746332296154934 1.0 1.0 6 P35250,Q9Y4P3 2 |
| Flat cornea 0.3317814651777407 0.031797889633361 0.9746332296154934 1.0 1.0 6 P35250,Q9Y4P3 2 |
| Nystagmus induced head nodding 0.3317814651777407 0.031797889633361 0.9746332296154934 1.0 1.0 6 P35250,Q9Y4P3 2 |
| Abnormal scrotal rugation 0.3985064494229428 0.031511144178022 0.974861904790474 1.0 1.0 2 Q9UNW1 1 |
| Decreased specific antibody response to protein vaccine 0.3974881194840452 0.031015256578257 0.9752573725362844 1.0 1.0 2 P17812 1 |
| Abnormal macroscopic urine appearance 0.2620031184114182 0.0299771670744375 0.976085263020521 1.0 1.0 20 P36551,Q8NFH4,P23786 3 |
| Abnormal temper tantrums 0.3028100316260941 0.0296963075792312 0.9763092567495032 1.0 1.0 8 Q9BVA1,P04062 2 |
| Hepatocellular carcinoma 0.2605067854085815 0.0290726993653125 0.9768066093416568 1.0 1.0 21 P36551,P25054,Q13043,Q9UJS0,P35670,P16930 6 |
| Apneic episodes precipitated by illness fatigue stress 0.3927359131025104 0.0288151481963963 0.977012019383156 1.0 1.0 2 P53007 1 |
| Renovascular hypertension 0.3018894423173497 0.0271554506781198 0.9783357477984016 1.0 1.0 8 P35250,Q9Y4P3 2 |
| Areflexia 0.2440440101668936 0.0271368567201146 0.9783505781650612 1.0 1.0 81 O95831,Q13510,O43505,Q96RL7,O60313,Q15067,Q03001,P61978,P05023,Q9BQT8,Q9BT22,O00429,O95140,P50570,P10253,O43819,Q9NWS8,P02545,Q8TD16 19 |
| Simplified gyral pattern 0.255990656995617 0.0236749525151236 0.9811118854022576 1.0 1.0 28 Q5KU26,Q86XL3,P20700,Q15058 4 |
| Abnormal size of pituitary gland 0.4249446426005954 0.0227814534423888 0.9818246021948815 1.0 1.0 3 Q9UMX1 1 |
| Otitis media 0.2435605781183794 0.0216254428378361 0.9827467378257722 1.0 1.0 51 P00813,O95202,Q14739,Q8N5M9,Q5H8A4,Q96A33,Q13432,P21964 8 |
| Abnormal dura mater morphology 0.4230899830220809 0.0214114134435049 0.9829174690422392 1.0 1.0 3 Q8N3U4,Q9UMX1 2 |
| Panhypopituitarism 0.4230899830220809 0.0214114134435049 0.9829174690422392 1.0 1.0 3 Q8N3U4,Q9UMX1 2 |
| Cyclopia 0.4230899830220809 0.0214114134435049 0.9829174690422392 1.0 1.0 3 Q8N3U4,Q9UMX1 2 |
| Myokymia 0.372708757637476 0.0214088420794848 0.9829195202237128 1.0 1.0 2 O15020 1 |
| Abnormal pattern of respiration 0.2713988666352334 0.0206561229662413 0.983519970344775 1.0 1.0 173 Q9NZJ7,O95831,Q13510,Q7KZN9,Q10713,Q9Y619,P00846,Q86Y39,O75880,Q9UHX1,O60313,P23786,Q03001,O43464,P51812,P61978,O43772,Q92804,P22695,O43924,P50995,Q15165,P04062,P43243,P35610,P03886,P53701,Q9P0J0,O76024,P06280,P09651,P51571,Q15233,Q9UMX1,O43819,P10253,Q8TCJ2,P02545,P07602,O75844,Q96A33,P35914,P35637,Q6UN15,Q96CU9 45 |
| Oligodactyly 0.3259687287559501 0.0203063328228687 0.9837990039675236 1.0 1.0 6 Q14683,P25054,O60885,O60216,Q9UQE7 5 |
| Dry hair 0.4194669879326392 0.0188344852854806 0.9849731434177292 1.0 1.0 3 Q9Y276 1 |
| Cutaneous melanoma 0.355736591989139 0.0171002054606824 0.9863566750030268 1.0 1.0 2 P11802 1 |
| Double aortic arch 0.3452138492871677 0.01514227926955 0.987918670842443 1.0 1.0 2 Q96DF8 1 |
| Unilateral primary pulmonary dysgenesis 0.3452138492871677 0.01514227926955 0.987918670842443 1.0 1.0 2 Q96DF8 1 |
| Right aortic arch with mirror image branching 0.3452138492871677 0.01514227926955 0.987918670842443 1.0 1.0 2 Q96DF8 1 |
| Stage 5 chronic kidney disease 0.2544441340002397 0.0144166093619426 0.9884976084125696 1.0 1.0 27 O95470,Q8IUX1,P23786 3 |
| Quadriceps muscle weakness 0.4126788485640628 0.0143493037198659 0.9885513049908496 1.0 1.0 3 O95140 1 |
| Abnormality of renal excretion 0.2970725360493261 0.0141963710889498 0.9886733151475672 1.0 1.0 8 O43772 1 |
| Renal insufficiency 0.2460692584009856 0.0139459610257709 0.9888730936914988 1.0 1.0 76 Q9NWS8,Q14108,Q8NFH4,Q8N1F7,Q8TAA9,Q16625,Q10713,O95470,P06280,Q9BT22,Q8IUX1,P23786,P35250,P16930,Q9NZ08 15 |
| Pontocerebellar atrophy 0.3357094365241035 0.0137537333212441 0.9890264544994556 1.0 1.0 2 O60762 1 |
| Lacrimal duct atresia 0.3333333333333327 0.0134556034890012 0.9892643056762368 1.0 1.0 2 Q9NX14 1 |
| Abnormal morphology of the abdominal musculature 0.2768567043594004 0.0132732946691304 0.989409754078968 1.0 1.0 11 Q6NUK1,Q8NCH0,P09651 3 |
| Abnormal thyroid hormone level 0.3295994568906937 0.0130228684956233 0.9896095479857708 1.0 1.0 2 O14654 1 |
| Bone marrow hypercellularity 0.2965986394557874 0.0129520341084653 0.9896660608833204 1.0 1.0 8 P49327,P27797,P06748,Q14980,P40763,Q6UN15,P10644 7 |
| Esophageal varix 0.3779797320404358 0.010686048525051 0.9914739291338396 1.0 1.0 5 P04062 1 |
| Unsteady gait 0.2397792783538608 0.0104236233496246 0.9916833024661806 1.0 1.0 45 O95831,Q5JRX3,Q10713,Q5THJ4,O00330,Q9NR50,Q9UBB4,P43243,Q6PI48,O75503 10 |
| Finger swelling 0.2786829599456942 0.0100969445708821 0.9919439406994212 1.0 1.0 2 P28070 1 |
| Hypoplasia of the brainstem 0.2537671232876589 0.0100862182735087 0.99195249861071 1.0 1.0 28 Q6ZXV5,P11177,Q10713,O43505,Q9Y320,Q9UPT5,P43034,Q9Y3C6,Q9H9S5,Q96EK5,Q9UJX6,P07954,Q93008,Q14204,O14936,Q9UNW1,Q9HD42,Q9Y5P6,Q53EZ4,P07437,Q9NXE4,Q9UPN3,Q7Z460,P63000,Q96GM8,Q13409,Q13509 27 |
| Neoplasm of the adrenal gland 0.2747304424546394 0.009232085966435 0.992633965779774 1.0 1.0 14 P25054,P48735,P21912,Q02978 4 |
| Spastic tetraplegia 0.2503672345578924 0.0091609239479401 0.9926907424546204 1.0 1.0 36 O43175,P16278,Q9Y320,O00330,P04066,Q86XL3 6 |
| Progressive inability to walk 0.2567237115765489 0.0089343663865255 0.9928715018359972 1.0 1.0 21 Q15043,Q96RL7,P00846,P21912,Q6PI48 5 |
| Regional abnormality of skin 0.241208851286404 0.007695329243306 0.9938600762056268 1.0 1.0 114 P09493,O43175,O75381,Q14739,Q9UHX1,O75431,Q9Y487,P51812,P61978,Q5SRE5,O95202,P35250,Q6NUK1,P40855,Q8NCH0,Q01082,P42166,Q7LGA3,Q9UMX1,Q13043,P16615,P53634,P02545,P55795,P42167,P21912 26 |
| Abnormal iris pigmentation 0.2623967890762842 0.0075668223298009 0.9939626069024036 1.0 1.0 17 Q96T58,Q96EV8,O75381,Q9Y4P3,P35250,P40855,Q15056,P10644 8 |
| Thick upper lip vermilion 0.2894224639437755 0.0074466940976648 0.9940584526635234 1.0 1.0 9 P25054,O75845,Q08J23 3 |
| Adenomatous colonic polyposis 0.4235733695652137 0.0053844924123038 0.99570381739617 1.0 1.0 4 P25054,P28340,Q07864 3 |
| Inflammation of the large intestine 0.2742160585395011 0.0051154306203012 0.995918494686765 1.0 1.0 12 P08183,Q13043 2 |
| Solitary median maxillary central incisor 0.4232336956521749 0.0050946437269418 0.9959350800119232 1.0 1.0 4 Q8N3U4,A5YKK6,Q9UMX1 3 |
| Abnormal morphology of myocardial trabeculae 0.4226162947425717 0.0045708756321265 0.996352981603248 1.0 1.0 4 Q15233 1 |
| Abnormal pupillary light reflex 0.4225876335772847 0.0045466571104407 0.9963723049869926 1.0 1.0 4 P07602 1 |
| Slow pupillary light response 0.4225876335772847 0.0045466571104407 0.9963723049869926 1.0 1.0 4 P07602 1 |
| Abnormal tendon morphology 0.2781861675365302 0.0044097859221974 0.9964815112997828 1.0 1.0 191 Q15058,O95831,Q13510,Q96AA3,O43175,Q15043,Q9Y619,P23786,O75431,P16435,P50897,Q08J23,Q5SRE5,P15586,Q9BT22,P37268,P04062,P04066,P42892,Q8NCH0,P50402,Q99720,Q15392,Q7LGA3,Q8IZA0,Q86XL3,P20700,P21912,P02545,Q8TD16,O75844,Q96A33,P35637 33 |
| Skin ulcer 0.2524016703929352 0.0024430118518384 0.9980507605005032 1.0 1.0 29 P02545,P48735,Q14739,O15460,P04062,O15269,Q8IZA0,P01889 8 |
| Choreoathetosis 0.252135655385433 0.0024191671370124 0.9980697857740974 1.0 1.0 30 P00846,Q96RL7,Q9P0J0,Q9H936 4 |
| Cleft soft palate 0.2454974926698437 0.0017600755730542 0.998595663599488 1.0 1.0 58 Q9NWM8,Q15058,P61978,P62847,O43175,P78318,Q9Y619,O43505,Q15392,Q15233,Q9HC21 11 |
| Hypogonadism 0.2431734547076531 0.0006448246547196 0.9994855043992286 1.0 1.0 79 O43175,P48651,P51809,O95470,O60313,Q969G3,Q8WWY3,Q9BT22,P35250,P03886,Q9Y276,O00429,O76024,Q9UMX1,Q9H2M9,Q15056,Q96T58,P02545,P00403,O75844,Q9Y4P3,Q4J6C6 22 |
|
|
