| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Abnormal circulating lipid concentration 0.510240008702533 3.5961451404268674 0.0003229676466633 0.7768930456712057 0.2251253814067182 80 P02545,Q8N511,Q9NZJ7,O75880,P40855,P56589,Q9UJS0,P50416,Q9BTV4,P28070,O75844,Q15800,O75381,P06280,O43772,Q15904,P07602,P49257,O75431,P37268,O75648,Q9Y4P3,Q9BV10,Q15392,Q15125,O75845,Q15738,P61916,Q03252,Q14739,P16219,P50402,Q9NVI7,P23786,O95470 35 |
| Mental deterioration 0.4724614654628026 3.5880954021153633 0.0003331024119965 0.7871537704958604 0.2251253814067182 106 Q9BQE5,P50897,Q9NPL8,P16278,Q9NZJ7,P00846,O60313,O43464,P00403,Q14108,P27544,Q96RL7,Q9Y487,Q03164,Q9H2C2,P05067,O76024,P21912,P35637,O75503,Q13510,P22626,P07602,P54802,P06865,P04062,P21964,O15118,Q9NQZ5,Q5XKP0,P17900,O95470 32 |
| Disproportionate short stature 0.637074624185161 3.325271101330273 0.0008833259856013 0.9834931316264058 0.2251253814067182 31 Q7LGA3,Q14739,Q32P28,Q9UHX1,Q03164,O75718,P16278,Q8WVQ1,Q7RTS9,Q9BV10,Q15392,Q15125 12 |
| Splenomegaly 0.4703422759710315 3.29836348300668 0.0009725015604642 0.9890945730101104 0.2251253814067182 93 P08236,P02545,Q9NZ08,P16278,Q9NZJ7,P15586,Q6PGP7,Q14108,P04066,Q96RL7,P01889,Q96A33,P28070,P11166,P51798,Q13510,Q15904,P07602,P54802,Q15392,P04062,Q14739,P21964,Q9BT22,O15118,P00813 26 |
| Cognitive impairment 0.4603168030604394 3.293543306759074 0.0009893309978352 0.9899152144444108 0.2251253814067182 176 Q6DKK2,Q9BQE5,P50897,Q9NZ08,Q9NPL8,P16278,Q9NZJ7,Q9Y2R0,P00846,O60313,O43464,Q6PGP7,P40855,P00403,Q14108,P27544,Q96RL7,Q9Y487,P01889,Q03164,Q99720,Q9H6K4,Q9H2C2,P05067,O76024,P21912,P35637,P12235,P11166,O75381,P06280,O75503,Q13510,O75569,P22626,P07602,P13473,P54802,P07196,Q9Y619,O95831,P06865,P04062,P21964,O15118,Q9NQZ5,Q5XKP0,P17900,O95470 49 |
| Abnormal circulating cholesterol concentration 0.6153160550726163 3.218811923492255 0.0012872288378076 0.997475573786706 0.2251253814067182 34 Q14739,P02545,Q15904,Q8N511,P07602,O75431,P37268,Q9NZJ7,P50402,Q9NVI7,Q9BV10,Q15800,Q15392,Q15125,O75845 15 |
| Blindness 0.4736177752646867 3.2158066954931543 0.0013007841875873 0.9976297837738228 0.2251253814067182 85 O43676,P50897,Q9NZ08,Q9NPL8,P16278,Q9NZJ7,P00846,Q96CU9,P01889,Q9H6K4,O96000,P51798,Q86Y39,P07602,Q8IUX1,Q9Y6M9,P06865,O43505,P53701,P17900 20 |
| Myoclonus 0.4495128497054644 3.1877583522914343 0.001433803064762 0.9987231504802868 0.2251253814067182 102 Q9UBX3,P50897,Q9NPL8,Q9NZJ7,P00846,P13073,P00403,Q14108,P27544,Q9H2C2,P05067,Q01105,Q9Y2B2,P11166,O75503,Q13510,Q9NZB8,P07602,O75845,P04062,Q03252,O14773,Q9NQZ5 23 |
| Abnormal visual electrophysiology 0.5226526106732184 3.183811879624598 0.0014534943988577 0.9988348882931968 0.2251253814067182 58 O43924,O75503,Q04837,Q86SQ9,P50897,P07602,Q9NZJ7,P12235,Q96S66,O14773,P00846,O60313,Q53H12,O43681,Q9GZY8,P51798,Q15067 17 |
| Optic disc pallor 0.5464375452716945 3.1454828124958 0.0016581293750836 0.9995502163975826 0.2251253814067182 52 O43676,Q9H061,Q6P4Q7,Q86Y39,Q9H6K4,Q9NPL8,Q9UG56,Q8IUX1,P04439,Q9Y6M9,O95831,P00846,O60313,Q96CU9,Q9GZY8,O96000,P51798 17 |
| Abnormality of the ribs 0.4815524597925381 3.1324017794799817 0.0017338242908322 0.9996837154763156 0.2251253814067182 69 P02545,P16278,P15586,O95202,O96028,Q03164,Q7Z4L5,Q7RTS9,O75844,P51798,Q9UHX1,O75431,P54802,Q9BV10,Q9Y619,O95831,P48651,Q14739,Q32P28,P00813,Q96HY6,P16435,O75718 23 |
| Horizontal nystagmus 0.678881279567932 3.087223153860804 0.0020203586537446 0.9999166145252132 0.2251253814067182 24 P04062,Q9H061,P07602,Q9NZJ7,O14773,P00846,O60313,Q9NW15,O95831 9 |
| Abnormal rib cage morphology 0.4621148245288661 3.0431951796752914 0.002340804550942 0.9999812335397764 0.2251253814067182 83 P08236,P02545,P16278,P15586,O95202,P04066,Q03164,O96028,Q7Z4L5,Q7RTS9,O75844,P51798,Q9UHX1,O75431,P54802,Q9BV10,Q9Y619,O95831,P48651,Q14739,Q32P28,P00813,Q8WVQ1,Q96HY6,P16435,O75718 26 |
| Abnormality of head blood vessel 0.6322142724934415 3.0381308633895077 0.0023805055389103 0.9999844001142482 0.2251253814067182 27 P06865,P48651,P21964,Q13510,P10619,P07602,P16278,Q9NZJ7,P00846,P17900 10 |
| Dementia 0.475712801238345 3.024146703970458 0.0024933549964756 0.9999907750620816 0.2251253814067182 64 Q9NZJ7,P00846,O60313,O43464,Q14108,P00403,P27544,Q96RL7,Q9Y487,P05067,O76024,P21912,P35637,Q13510,P22626,P07602,P06865,P04062,O15118,Q9NQZ5,P17900 21 |
| Biliary tract abnormality 0.6237614412685735 2.975897957077723 0.0029213204892766 0.999998742603496 0.2251253814067182 27 Q10713,P04062,Q14739,P02545,O96028,P09601,P07602,Q9NZJ7,O43681,Q5XKP0,O95202,Q14108 12 |
| Contractures of the joints of the upper limbs 0.4661385935245093 2.9641855387978975 0.0030348524407801 0.9999992590142838 0.2251253814067182 71 Q9NR77,Q7LGA3,P48651,P42892,P02545,Q99720,Q9BTV4,Q9Y2B2,Q8IZA0,P37268,P50402,P07196,P35637,Q8WVQ1,P16435,O75844,Q15392,Q9Y619 18 |
| Abnormal muscle fiber morphology 0.4661028303756628 2.9637495671904173 0.0030391551032158 0.9999992737176032 0.2251253814067182 71 O43676,P02545,O75190,O60313,P00846,P43243,Q9H2D1,P00403,O75340,Q96RL7,Q99720,Q9BTV4,P05067,Q70HW3,P35637,P61978,P12235,P03915,Q86U42,P22626,P53007,Q9BPX6,P07196,P51114,O75648,O96008,Q96RR1,O14979,P31483,O95831,P06753,P50402,P23786,Q13501 34 |
| Corneal opacity 0.505745746041962 2.9521656653046153 0.0031555358353527 0.999999577669761 0.2251253814067182 57 P08236,P02545,P16278,P40855,O95202,P04066,P56589,O96028,Q9Y2B2,Q06136,O75844,O75381,P06280,Q13510,O75569,Q9Y4P3,O75845,P04062,P10619,O43505,P53701,Q9NVI7,P51648 23 |
| Sensorimotor neuropathy 0.5697802623305873 2.917781127208257 0.0035253170550175 0.9999999246029656 0.2251253814067182 37 Q9NR77,P07602,Q13217,Q9NZJ7,P07196,Q9Y2R0,Q8N2K0,O60313,P00846,P41440,Q5KU26,P00403,O95831,P39210 14 |
| Nephrotic syndrome 0.6020028422161381 2.9141256504080637 0.0035668631094381 0.9999999378754372 0.2251253814067182 28 Q03252,Q8NCH0,Q9BT22,P00813,O95721,O95470,Q14108,P06280 8 |
| Abnormal retinal artery morphology 0.6583221869238282 2.865886233177532 0.0041584365878 0.9999999960598404 0.2251253814067182 23 P06865,P21964,Q13510,P10619,P07602,P16278,Q9NZJ7,P00846,P17900 9 |
| Abnormality of pulmonary circulation 0.5772292644479683 2.8549368571444833 0.004304538611461 0.999999998006603 0.2251253814067182 31 P04062,P02545,Q9NZ08,Q8IZA0,Q14108,O75844,P00403,O96000,P51798 9 |
| Abnormality of the upper respiratory tract 0.4194796593978478 2.8457877896685253 0.0044301707430649 0.9999999988905712 0.2251253814067182 106 P08236,P02545,P16278,Q9NZJ7,P15586,Q15165,P04066,P01889,P35637,P28070,Q7RTS9,Q13510,Q9UHX1,P07602,P54802,Q9BV10,Q14739,P21964,P00813,Q96HY6,P16435,Q92804 22 |
| Abnormal social behavior 0.4556936725780715 2.8360996505370566 0.0045668194345112 0.9999999994135212 0.2251253814067182 71 O43676,Q9NPL8,Q9P0J0,Q9NZJ7,O43464,Q96CU9,Q9GZY8,Q15233,P05067,P11166,O96000,Q15067,Q15907,Q9UHX1,Q86Y39,P07602,Q8IUX1,Q9Y6M9,O96008,Q9Y4P3,Q5KU26,Q15125,Q5XKP0 23 |
| Abnormality of femur morphology 0.4517116665051081 2.8130647699172933 0.0049071765756101 0.9999999998801796 0.2251253814067182 74 P02545,P16278,Q9NZJ7,P04066,Q9Y487,Q96L58,Q96A33,Q7RTS9,O75844,P51798,Q7LGA3,Q9UHX1,P07602,O75431,Q9BV10,Q9Y619,O95831,P04062,Q14739,Q32P28,Q8WVQ1,Q96HY6,P16435,O75718 24 |
| Abnormality of epiphysis morphology 0.4566588289131903 2.8098290335187572 0.0049567823196632 0.9999999999049424 0.2251253814067182 66 P08236,P16278,P40855,O95202,O96028,Q96L58,Q9Y2B2,Q7Z4L5,Q7RTS9,P51798,Q7LGA3,Q9Y619,Q9UG56,Q15125,O95831,Q9HC07,Q14739,P38435,Q8WVQ1,Q96HY6,P16435 21 |
| Muscle abnormality related to mitochondrial dysfunction 0.5414904719592387 2.7873952105311948 0.0053133635465323 0.9999999999820072 0.2251253814067182 41 O43676,Q9UBX3,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,Q9Y2R0,O60313,P00846,Q96CU9,P00403,O96000 12 |
| Delusions 0.6829951267024238 2.7865279328367465 0.0053276026319466 0.9999999999831644 0.2251253814067182 20 P04062,Q96RL7,P21964,Q9BQE5,P07602,Q9NZJ7,P36551,O43681,O00754 9 |
| Osteoarthritis 0.7915998418415492 2.7750885180557687 0.0055186685086439 0.9999999999931012 0.2251253814067182 12 P04062,P01889,P02545,Q8WVQ1,O75844,Q14108,P51798 7 |
| Ventricular hypertrophy 0.5557887983975063 2.7735256621928728 0.0055452466605578 0.9999999999939064 0.2251253814067182 36 Q15233,P23786,P02545,O43772,O75431,P21912,P78536,Q13724,O75880,P36543,Q6NUK1,Q9BV10,Q96RR1,O75844,P12235,P00403,P06280 17 |
| Proportionate short stature 0.5568322177171607 2.760032597465686 0.0057795594344087 0.9999999999979602 0.2251253814067182 35 P48651,Q14739,Q96L58,P10619,P16278,P53701,Q8WVQ1,Q7RTS9,Q96HY6,Q9Y619,Q15392,Q13555 12 |
| Abnormality of the peripheral nervous system 0.4101722991371272 2.751519256195716 0.0059319532183883 0.999999999998999 0.2251253814067182 108 Q9NR77,P02545,P0DP25,Q9NZJ7,O60313,O43464,P41440,Q9GZY8,O15121,Q96RL7,Q99720,Q9Y2B2,O76024,P06280,Q15067,P07602,P20700,P07196,Q8N2K0,Q9Y619,Q15125,O95831,P39210,P04062,P42892,P21964,Q9NQZ5,O95721 28 |
| Abnormal biliary tract morphology 0.6291444240123356 2.7445723798949544 0.0060589791557608 0.999999999999447 0.2251253814067182 24 Q10713,P04062,Q14739,P02545,P09601,P07602,Q9NZJ7,O43681,Q5XKP0,Q14108 10 |
| Abnormality of upper limb joint 0.4083046274714253 2.744269968257127 0.0060645640975531 0.9999999999994612 0.2251253814067182 114 Q9NR77,P02545,P16278,O95202,Q03164,O96028,Q9H6K4,Q9BTV4,Q9Y2B2,Q7RTS9,O75844,Q7LGA3,Q13510,P37268,P07196,Q9BV10,Q9Y619,Q15392,Q15125,O95831,P42892,P48651,Q8IZA0,P50402,Q8WVQ1,P16435 26 |
| Elevated pulmonary artery pressure 0.6165413143621293 2.738323484675421 0.0061753300793558 0.9999999999996788 0.2251253814067182 25 P04062,P02545,Q8IZA0,Q14108,O75844,P00403,O96000,P51798 8 |
| Increased bone mineral density 0.61530757274227 2.7294299421611563 0.0063443927998809 0.9999999999998544 0.2251253814067182 25 P04062,P48651,Q14739,Q15125,P54802,Q15392,Q14108,P51798 8 |
| Abnormality of visual evoked potentials 0.6268486286316838 2.7284285906713 0.0063636866674436 0.9999999999998668 0.2251253814067182 24 O75503,P07602,Q9NZJ7,O60313,O43681,Q9GZY8,P51798,Q15067 8 |
| Abnormal sternum morphology 0.4083623053177148 2.723129021116836 0.0064666797681456 0.9999999999999176 0.2251253814067182 118 P08236,P02545,P16278,O95202,Q9Y487,Q03164,O96028,Q9BTV4,Q96L58,Q9Y2B2,Q7Z4L5,Q96A33,P21912,Q7RTS9,Q7LGA3,Q13510,Q9UHX1,O75431,Q9Y4P3,Q9Y619,O95831,P55795,P78318,P04062,Q14739,Q8NCH0,Q9H490,P50402,Q9NVI7,O75718 30 |
| Disproportionate short limb short stature 0.6007731409333336 2.710987112035432 0.0067083233628371 0.9999999999999736 0.2251253814067182 26 Q7LGA3,Q14739,Q32P28,Q03164,O75718,Q7RTS9,Q9BV10,Q15392,Q15125 9 |
| Positional foot deformity 0.415737019386816 2.6950888035258056 0.0070369873655382 0.9999999999999944 0.2251253814067182 101 Q9NR77,P08236,P02545,O95202,Q9Y487,O96028,Q96A33,Q7RTS9,Q9NWM8,Q9HC21,Q15907,Q9UHX1,P07196,Q9BV10,Q9Y619,Q15392,Q15125,O75845,P21964,Q8NCH0,Q8WVQ1,Q9NVI7,P16435 23 |
| Abnormal tissue metabolite concentration 0.7264737865022092 2.6840971386252903 0.0072725972444696 0.999999999999998 0.2251253814067182 15 P56589,P06865,P07602,Q9NZJ7,P40855,P17900,O75381,P06280 8 |
| Areflexia of lower limbs 0.6415537642751045 2.677430416313473 0.0074189260963937 0.999999999999999 0.2251253814067182 22 Q9NR77,Q96RL7,Q9H6K4,P07196,O60313,Q15041,P12235,Q15067 8 |
| Cherry red spot of the macula 0.8300099492534996 2.6679560009707064 0.0076314251326818 0.9999999999999996 0.2251253814067182 9 Q13510,P10619,P07602,P16278,Q9NZJ7,P17900 6 |
| Delayed cranial suture closure 0.5561764040090831 2.6584757519277855 0.0078494998896991 1.0 0.2251253814067182 29 P48651,Q9Y487,P02545,Q32P28,Q8NCH0,O75431,P16435,O75844,O75718,P40855 10 |
| Cns demyelination 0.7351870026673627 2.6414398281390983 0.0082554470009301 1.0 0.2251253814067182 14 Q9H9P8,P07602,Q9NZJ7,P51648,Q15067 5 |
| Clumsiness 0.6354009663131284 2.635753847133749 0.008395060655103 1.0 0.2251253814067182 22 Q9NR77,O75503,Q13510,P07602,P06753,Q9NZJ7,O14773,O43681,O00754,O43819,Q15067 11 |
| Abnormality of the vasculature of the eye 0.4368714700793111 2.6346505920082226 0.0084223933574589 1.0 0.2251253814067182 75 Q9NZ08,P16278,Q9NZJ7,P00846,P04066,P01889,P21912,P28070,Q9NW15,P06280,Q13510,P07602,P06865,Q14739,P21964,P10619,P38435,P04439,P17900 19 |
| Dysostosis multiplex 0.8505886958528678 2.6343839877848487 0.0084290102988575 1.0 0.2251253814067182 8 P08236,P10619,P16278,P54802,P15586 5 |
| Abnormal enchondral ossification 0.5513559870471739 2.6307569666788595 0.0085194935892976 1.0 0.2259242048685009 30 P08236,Q14739,O96028,Q96L58,P38435,Q8WVQ1,P40855,Q7RTS9,Q96HY6,Q9Y619,Q9UG56,O95202,Q15125 13 |
| Abnormal peripheral nervous system physiology 0.4832266611069142 2.6195184573110457 0.0088054007496121 1.0 0.2259242048685009 55 Q9NR77,Q96RL7,P02545,Q99720,P07602,P20700,Q9NZJ7,P07196,Q8N2K0,O60313,O95721,Q9NQZ5,Q9Y619,Q9GZY8,O15121,Q15125,O95831,P39210 18 |
| Arthritis 0.5044718240959082 2.5957516067967465 0.0094384270470633 1.0 0.2343960171473908 48 P04062,Q96RL7,P01889,P02545,Q13510,Q14739,P21964,Q9NZ08,P10321,P28070,Q8WVQ1,Q96HY6,O75844,Q14108,P51798 15 |
| Abnormal peripheral myelination 0.5364850620327457 2.585893255771424 0.0097127004798569 1.0 0.2399243671726366 35 Q9NR77,Q96RL7,P02545,Q9NZB8,P07602,P20700,Q9NZJ7,P07196,P00846,P39210 10 |
| Poor head control 0.4305495975484538 2.571758625228137 0.0101183409391447 1.0 0.2473135543230963 77 O43676,P02545,Q9NPL8,Q9P0J0,Q9NZJ7,P13073,Q96CU9,Q15233,Q86SQ9,Q9H2C2,P21912,Q9NWM8,O96000,Q10713,Q86Y39,P07602,Q8IUX1,Q9Y6M9,Q5KU26,P06865,P00374,P06753,Q5XKP0,P17900,O95721 25 |
| Abnormality of the wrist 0.541740286840942 2.5640820336678725 0.0103449091145029 1.0 0.2504390245871479 31 P02545,Q13510,Q9H6K4,P16278,Q8WVQ1,Q7RTS9,Q9BV10,P16435,O75844,Q15125,O95831 11 |
| Severe short stature 0.5925163953600124 2.563521069820342 0.0103616411635114 1.0 0.2504390245871479 25 P48651,Q96L58,P10619,P16278,P53701,Q8WVQ1,Q7RTS9,Q96HY6,Q9Y619,Q15392 10 |
| Vascular skin abnormality 0.3992707013427345 2.5585562702104494 0.0105107808018449 1.0 0.2504390245871479 123 P02545,P16278,P00846,P98194,P00403,Q14108,P04066,Q9Y487,P01889,Q96L58,Q9Y2B2,Q06136,P21912,O75844,Q9NWM8,P06280,P51798,Q15125,P04062,P48651,Q14739,Q8NCH0,P21964,P10619,P38435,Q8IZA0,P53701,P51648 28 |
| Abnormal activity of mitochondrial respiratory chain 0.465399878732408 2.558388605483377 0.0105158505156102 1.0 0.2504390245871479 58 Q9Y584,Q7KZN9,O43676,Q9UBX3,Q86Y39,Q9NPL8,Q8IUX1,Q9P0J0,Q70HW3,Q9Y6M9,Q9Y2R0,P13073,Q96CU9,O96000 14 |
| Abnormal vascular physiology 0.4841666837312636 2.5505011458457054 0.0107568170464491 1.0 0.2536730403537388 53 P20674,O14678,P02545,Q9NZ08,Q14108,P00403,P01889,P05067,O75844,Q9NWM8,O96000,P51798,P06280,O15460,Q9Y4P3,Q6NUK1,P49711,P04062,Q14739,Q8IZA0,P51970 21 |
| Incoordination 0.4311087899964496 2.536116989644829 0.0112089281249734 1.0 0.2536730403537388 72 Q6DKK2,Q9NR77,Q9NZJ7,P00846,O00754,Q9UBB4,Q01105,P21912,Q7RTS9,P12235,O43819,Q15067,Q10713,O75503,Q13510,P07602,P53007,O43681,Q9Y619,P04062,P06753,O14773 22 |
| Peripheral demyelination 0.6633793146290956 2.5246835682577538 0.0115802507655022 1.0 0.2536730403537388 18 Q9NR77,Q9NZB8,P07602,P07196,P00846 5 |
| Paresthesia 0.5387326235341288 2.516182980604437 0.0118633573338384 1.0 0.2552782211177072 29 Q9NR77,P01889,Q9H6K4,P05067,Q9NZ08,P54802,P07196,P11166 8 |
| Toe walking 0.6176823961643916 2.5146235474111513 0.0119159543869373 1.0 0.2552782211177072 22 P02545,Q99720,Q9BTV4,P07602,P06753,Q9NZJ7,P50402,P35637,O43681,O95831 10 |
| Talipes equinovarus 0.4229719058118492 2.512274365593146 0.0119955786951317 1.0 0.2552782211177072 81 Q9NR77,P08236,P36543,O00754,O95202,Q9Y487,O96028,Q9UM00,Q96L58,Q96A33,P61978,Q7RTS9,Q9NWM8,Q9HC21,Q15907,Q9BV10,Q9Y619,Q15392,Q15125,O75845,P21964,Q8NCH0,P06753,P98175,Q8WVQ1,P16435 26 |
| Mitochondrial myopathy 0.5320650576668885 2.5118631567112457 0.0120095648131597 1.0 0.2552782211177072 33 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,P00846,O60313,Q96CU9,P00403,O96000 10 |
| Abnormal epiphyseal ossification 0.670913288618335 2.511019225768003 0.0120383140449564 1.0 0.2552782211177072 17 P08236,Q14739,Q96L58,P38435,Q7RTS9,P40855,Q96HY6,Q9UG56,O75381,Q15125 10 |
| Hepatic failure 0.4755872009962286 2.497168868277172 0.0125189324403092 1.0 0.2602728723537713 54 P00846,Q6PGP7,P40855,P56589,P01889,P50416,P16930,O75381,Q10713,Q13510,O43772,O15460,O75648,Q9Y619,O75845,P39210,P04062,O15118,P23786,Q9NZ71 20 |
| Decreased activity of mitochondrial complex iv 0.666267287023965 2.4826507409278213 0.0130408878716088 1.0 0.2602728723537713 17 Q9Y584,Q9Y2R0,Q70HW3 3 |
| Reduced visual acuity 0.3939855265242778 2.477506026653553 0.0132304174398019 1.0 0.2614555684699578 123 O43676,Q9H061,P50897,Q9NZ08,Q9NPL8,P16278,Q9NZJ7,P00846,O60313,Q96CU9,P01889,Q86SQ9,Q9H6K4,P21912,Q9P273,O96000,P51798,Q10713,Q9UHX1,Q86Y39,P07602,Q15058,Q8IUX1,Q9Y6M9,O43681,P06865,O43505,P53701,P17900,P30533 30 |
| Abnormality of the musculature of the lower limbs 0.5692518352113305 2.4742261209083436 0.0133525155012077 1.0 0.2616416961502481 26 Q9NR77,Q96RL7,P02545,O14979,P50402,P07196,P00846,Q9NW15 8 |
| Polyneuropathy 0.6338574914314934 2.4694939411369785 0.0135304309843715 1.0 0.262549771971637 20 Q9HC21,P07602,Q9NZJ7,Q8N2K0,P00846,O60313,O95721,O95831,P04066 9 |
| Decreased activity of mitochondrial complex i 0.518374324481831 2.46941167998456 0.0135335421860058 1.0 0.262549771971637 37 Q9Y584,O43676,Q9UBX3,Q86Y39,Q9NPL8,Q8IUX1,Q70HW3,Q9Y6M9,O96000 9 |
| Rhizomelia 0.6730135841868203 2.468489489473187 0.0135684636677848 1.0 0.262549771971637 16 Q15392,Q14739,Q03164,Q7RTS9,O75718,Q15125 6 |
| Bulbar signs 0.7010383413370749 2.4504266430814097 0.0142687033746231 1.0 0.2707754413818538 14 P04062,Q99720,P07602,P06753,Q9NZJ7,P35637,P00846,P43243,O43681 9 |
| Abnormal saccadic eye movements 0.5423207985382524 2.445772324842921 0.0144542244210907 1.0 0.2707754413818538 28 P04062,Q96RL7,Q8IV08,O14773,Q9NW15 5 |
| Ventricular arrhythmia 0.5089961876116015 2.4329576739067043 0.0149760514231664 1.0 0.2755559828844482 39 P42892,P02545,O43772,Q9BTV4,P13473,P0DP25,P21912,P36551,P50402,P00846,P12235,P00403 12 |
| Progressive gait ataxia 0.7107516227715757 2.42325382108224 0.0153821749550826 1.0 0.2801365509466817 13 P00846,Q9NW15,O14773,P07602 4 |
| Peripheral axonal degeneration 0.4179854715528905 2.4170131395676875 0.0156484522346647 1.0 0.2838727038194645 78 Q6DKK2,P02545,Q8IV08,Q9NZJ7,P00846,O60313,P41440,P00403,Q96RL7,O76024,P12235,Q9HC21,Q15067,Q9NZB8,P22626,P07602,Q9BPX6,P07196,Q9BQT8,O95831,P39210,Q9NVI7 22 |
| Optic neuropathy 0.5613165518375705 2.413637556309157 0.0157941648188262 1.0 0.2840476274306689 26 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9P0J0,Q9Y6M9,P00846,O96000 8 |
| Abnormality of the spleen 0.3921102536880561 2.411854455249613 0.0158716159318497 1.0 0.2840476274306689 130 P08236,P02545,Q9NZ08,P16278,Q9NZJ7,P15586,Q6PGP7,O95202,Q14108,P04066,Q96RL7,P01889,Q96A33,P28070,Q5HYI8,P11166,P51798,Q13510,P07602,P54802,Q15392,O75845,P04062,Q14739,P21964,Q9BT22,P10619,O15118,P00813 29 |
| Slowly progressive 0.448090950306339 2.4093696487701406 0.0159801034051039 1.0 0.2840476274306689 59 Q9NR77,P02545,Q8IV08,O00584,Q99720,Q9BTV4,Q9P0J0,P50402,P07196,Q8N2K0,O14773,P41440,O14979,O95831 14 |
| Morphological abnormality of the pyramidal tract 0.6134258909918004 2.4064205832415113 0.0161097062286581 1.0 0.2840476274306689 21 O75569,Q9H9P8,P35637,P00846,Q9Y619,P11166,O95831 7 |
| Ragged red muscle fibers 0.6444886654615446 2.4062908651664383 0.016115428112861 1.0 0.2840476274306689 18 O75340,Q86U42,Q70HW3,O75648,P00846,Q96RR1,Q9H2D1,P12235,P00403,O95831 10 |
| Abnormality of the larynx 0.4737386267838366 2.4049798216348512 0.0161733587843004 1.0 0.2840476274306689 52 Q14739,P02545,Q9UHX1,Q13510,P21964,P07602,Q9NZJ7,P35637,P16435,Q92804,Q15165 11 |
| Inability to walk 0.4091018327622928 2.404947972611586 0.0161747683613424 1.0 0.2840476274306689 88 Q9NR77,P00846,Q96CU9,Q9GZY8,O14949,Q96RL7,Q99720,P21912,P35637,Q7RTS9,Q15041,P12235,P11166,Q96N66,O75503,Q13510,P07196,Q9NVI7,Q96D71 19 |
| Abnormal light and dark adapted electroretinogram 0.775672774008329 2.404184855366112 0.0162085747780205 1.0 0.2840476274306689 9 P50897,P00846 2 |
| Abnormal full field electroretinogram 0.775672774008329 2.404184855366112 0.0162085747780205 1.0 0.2840476274306689 9 P50897,P00846 2 |
| Juvenile onset 0.4942902124194885 2.401467633888705 0.0163294535617939 1.0 0.2844688833390793 44 Q9NR77,Q03252,P02545,Q13510,P16278,O15118,P54802,P07196,P50402,O14773,P41440,P06280,P51798 13 |
| Left ventricular hypertrophy 0.5705797893862389 2.4008928862346695 0.0163551231377119 1.0 0.2844688833390793 25 Q15233,O75431,P21912,P78536,Q13724,O75880,Q6NUK1,Q96RR1,P10253,P12235,P00403,P06280 12 |
| Emg neuropathic changes 0.5807365501895229 2.397820796095562 0.0164929319530253 1.0 0.2854217719741702 24 Q9NR77,Q96RL7,Q13510,P22626,P07602,Q9NZJ7,O14773,O60313,O43819,P39210 10 |
| Limb joint contracture 0.3962926168924413 2.396935609845541 0.0165328287383832 1.0 0.2854217719741702 100 Q9NR77,P02545,O60313,Q99720,Q9BTV4,Q96L58,Q9Y2B2,P35637,O75844,Q9HC21,Q7LGA3,P37268,P07196,Q8N2K0,Q9Y619,Q15392,P42892,P48651,Q8IZA0,P50402,Q8WVQ1,Q86XL3,P16435 23 |
| Abnormal form of the vertebral bodies 0.4022089764005684 2.388951344333522 0.016896539896718 1.0 0.2906204862235499 94 P08236,P16278,P15586,O95202,P04066,O96028,Q96L58,Q7RTS9,P51798,Q9UHX1,P54802,Q9BV10,Q9Y619,Q15125,O75845,O95831,Q14739,Q32P28,P00813,Q8WVQ1,Q96HY6,P16435 22 |
| Postural tremor 0.6202244940438015 2.3794669056553617 0.0173376997680823 1.0 0.292098607896284 20 Q9NR77,O75569,Q9H6K4,P35637,P00846,O14773,Q14108 7 |
| Impaired proprioception 0.4956937521298448 2.3793353851686585 0.0173438876718257 1.0 0.292098607896284 42 Q9NR77,Q96RL7,Q8IV08,Q9H6K4,P54802,P07196,O14773,P00846 8 |
| Abnormal larynx morphology 0.518281393135595 2.37924919302876 0.0173479439738997 1.0 0.292098607896284 32 Q14739,Q13510,Q9UHX1,P02545,P21964,P07602,Q9NZJ7,P16435 8 |
| Limitation of joint mobility 0.3913222660673259 2.375333660207093 0.0175330930008528 1.0 0.292098607896284 103 P08236,P02545,P16278,P15586,P01889,Q9H6K4,Q9BTV4,Q96L58,O76024,Q7RTS9,O75844,Q9HC21,Q7LGA3,O75431,P37268,P54802,Q9Y4P3,O14979,P48651,Q9BT22,P50402,P51648,P16435 23 |
| Myoclonic seizure 0.4564736998745753 2.368609847040361 0.0178550773921282 1.0 0.292098607896284 56 P04062,Q5XKP0,O75503,Q13510,P07602,Q01105,P16278,Q9NZJ7,P00846,Q9Y619,P11166,Q96N66 12 |
| Urinary glycosaminoglycan excretion 0.8349741291453219 2.3629420202429428 0.018130505862334 1.0 0.292098607896284 7 P15586,P08236,P16278,P54802 4 |
| Hypocholesterolemia 0.7927067708672995 2.3620901631450337 0.018172221932549 1.0 0.292098607896284 8 P07602,P37268,Q9NZJ7,Q9BV10,Q15800 5 |
| Frequent falls 0.4933705488527219 2.3572010644461776 0.0184132739465252 1.0 0.292098607896284 42 Q9NR77,P04062,Q13510,P07602,P06753,P53007,P21912,Q9NZJ7,P00846,Q7RTS9,O43681,P12235,O43819 13 |
| Hypersplenism 0.7916828893136862 2.357194473067041 0.0184136008078081 1.0 0.292098607896284 8 P04062,P07602,Q14108 3 |
| Proximal amyotrophy 0.684537409354925 2.3565759811130147 0.0184442939398021 1.0 0.292098607896284 14 P02545,P50402,P07196,P35637,O14979 5 |
| Cardiac conduction abnormality 0.517079551196683 2.356465896842216 0.0184497616469085 1.0 0.292098607896284 31 P02545,O43772,Q9BTV4,Q9H490,P0DP25,P21912,P50402,P00846,P23786,P00403,P06280 11 |
| Abnormal autonomic nervous system physiology 0.5080088545686723 2.355615832983268 0.018492030732452 1.0 0.292098607896284 36 P04062,P42892,Q96RL7,P07602,O76024,P0DP25,Q9NZJ7,O43464,P41440,P06280,Q15067 11 |
| Generalized myoclonic seizure 0.4929726896835478 2.353405622706586 0.0186023294309169 1.0 0.2925002633193762 42 P04062,Q13510,P07602,Q01105,P16278,Q9NZJ7,P00846,Q9Y619,P11166 9 |
| Limb ataxia 0.5641385057130959 2.352585011726592 0.0186434276362048 1.0 0.2925002633193762 25 Q9NR77,P04062,Q8IV08,O14773,Q9NW15,Q14108 6 |
| Abnormality of the metacarpal bones 0.488758315837149 2.3477773980829095 0.0188858043711455 1.0 0.2943271498350216 44 O43924,Q9NX62,P08236,P48651,Q14739,O96028,Q32P28,P16278,Q8WVQ1,Q7RTS9,P16435,O95202,P51798 13 |
| Abnormal heart valve morphology 0.4098743141684109 2.3477611949286583 0.0188866258938062 1.0 0.2943271498350216 82 P08236,P02545,P16278,P36543,Q6PGP7,O95202,Q15233,P01889,O96028,Q96L58,Q9Y2B2,P61978,O75844,P06280,P51798,Q9UHX1,O75431,P37268,Q9Y4P3,P55795,P04062,P21964,Q8NCH0,P06753,P53701 25 |
| Increased cerebral lipofuscin 0.9230547550432264 2.3321832361242905 0.0196910536893939 1.0 0.3048175111118183 5 P50897,P07602,O75503,O14773 4 |
| Aplasia hypoplasia involving bones of the thorax 0.4908072525736391 2.3178036570187386 0.0204599942723604 1.0 0.3144093806994854 41 P48651,Q14739,P02545,Q03164,Q9UHX1,Q96L58,Q9Y2B2,Q7Z4L5,O75431,Q7RTS9,Q9BV10,Q96HY6,O75844,P16435,Q9Y619 15 |
| Abnormality of glycolipid metabolism 0.783260000039692 2.316815389615177 0.0205137903427958 1.0 0.3144093806994854 8 P06865,P07602,Q9NZJ7,P17900,P06280 5 |
| Hypertrophic cardiomyopathy 0.3801221949002727 2.314599177563476 0.0206348779321878 1.0 0.3152249115693437 114 Q7KZN9,O43676,Q9H061,P02545,Q13423,Q9NPL8,P16278,Q9P0J0,P15586,P00846,O60313,Q96CU9,P00403,P01889,Q9BTV4,P21912,P12235,O96000,P06280,Q86Y39,P13473,Q8IUX1,P54802,Q9Y6M9,P50402,P53701,Q9NVI7,Q5XKP0 28 |
| Slurred speech 0.780636772138071 2.3042014399064517 0.0212113384221483 1.0 0.3187878823056865 8 Q96RL7,Q9Y487,P16278 3 |
| Abnormality of the achilles tendon 0.6999375087142924 2.2893804072241024 0.0220572595122328 1.0 0.3304319779832553 12 P02545,Q9BTV4,P50402,Q8N2K0,O60313 5 |
| Abnormal vertebral morphology 0.3792581123719191 2.283274922144871 0.0224141792589822 1.0 0.3336962866275427 117 P08236,P16278,P15586,O95202,Q14108,P04066,O96028,Q7RTS9,P51798,Q9UHX1,P54802,Q9BV10,Q9Y619,Q15125,O75845,O95831,P04062,Q14739,Q8NCH0,Q32P28,P10619,P00813,Q8WVQ1,Q96HY6,P16435,O75718 26 |
| Increased connective tissue 0.7762766332688928 2.283195213108795 0.022418871969809 1.0 0.3336962866275427 8 P07196,O95831,P02545 3 |
| Impaired social interactions 0.4619158766976949 2.279401323343446 0.0226432197346602 1.0 0.3349404894652356 52 Q15907,O43676,Q9UHX1,Q86Y39,Q9NPL8,Q8IUX1,Q9P0J0,Q9Y6M9,O43464,Q5XKP0,Q96CU9,Q9GZY8,P11166,O96000,Q15067 15 |
| Genu valgum 0.4947825755759009 2.2781630227044087 0.0227168664899017 1.0 0.3349404894652356 38 Q9NX62,Q9NR77,Q7LGA3,P08236,Q96L58,P16278,O75431,Q7RTS9,Q9Y619,P51798 10 |
| Phenotypic variability 0.3836304131324018 2.2781300282087296 0.0227188316497737 1.0 0.3349404894652356 104 Q9NR77,Q9H061,P02545,Q9NZJ7,Q9NWS8,P00846,O60313,Q92733,O15121,P00403,Q86SQ9,Q70HW3,P21912,Q53H12,P11166,Q6P4A7,Q13510,P07602,Q15058,P07196,P36551,O14979,Q15125,P00374,P49792,P06753,Q8WVQ1,P17900,O95470 29 |
| Ankylosis 0.9090233834946402 2.274249694127239 0.0229509779229395 1.0 0.3372922198548457 5 O75844,P48651,P16435 3 |
| Papule 0.6128904210729988 2.264746784584477 0.0235282227194939 1.0 0.3425237188380248 19 P01889,P16615,P02545,Q9NZ08,P38435,O75844 6 |
| Abnormal thoracic spine morphology 0.5081909457569044 2.2616701434589057 0.0237177907072416 1.0 0.3430825084335344 29 P04062,P08236,P02545,Q9UHX1,P51648,O75844,O75845,O95831 8 |
| Abnormality of hepatobiliary system physiology 0.3991780007007371 2.25583620138938 0.0240808912372241 1.0 0.345159441066879 87 Q8TCJ2,Q8N511,Q9NWS8,P00846,Q6PGP7,P40855,P56589,P50416,P01889,Q96A33,O75381,O43819,Q10713,Q13510,O43772,Q9Y619,O75845,P39210,P55263,P04062,Q9BT22,O15118,P23786,Q5XKP0 24 |
| Hallucinations 0.4650007028496819 2.250643179624567 0.0244081462465877 1.0 0.3474032854283785 50 Q6DKK2,P04062,O75503,P21964,Q9BQE5,P50897,P05067,P07602,O76024,Q9NZJ7,P36551,P35637,O60313,O43464,O96008,O43681,O00754 17 |
| Thoracic kyphoscoliosis 0.8509273565115375 2.2503367294239385 0.0244275780565139 1.0 0.3474032854283785 6 O75844 1 |
| Neck muscle weakness 0.6484676870962407 2.2301105971078177 0.0257401014793274 1.0 0.3611390672809572 15 P02545,Q86U42,Q99720,Q9BTV4,P07602,P06753,Q9NZJ7,P35637 8 |
| Schizophrenia 0.5871934637984257 2.2266302912587173 0.0259719927699826 1.0 0.3632949832042149 21 P04062,P21964,P16615,Q9BQE5,P07602,Q9NZJ7 6 |
| Foam cells 0.8449383011083631 2.224219302746908 0.0261336929620479 1.0 0.3644590694166684 6 O75845,P16278,Q13510 3 |
| Arteriosclerosis 0.6325972751455383 2.222769962735154 0.0262313154981177 1.0 0.364725237045685 16 Q13510,P38435,P16278,O15118,O75844,O75845 6 |
| High frequency sensorineural hearing impairment 0.8962524776737566 2.2212066290099988 0.0263369694214128 1.0 0.3651011522180334 5 O75844,Q9NWM8,Q13510 3 |
| Abnormal conjunctiva morphology 0.5030465185887006 2.2181200001318992 0.0265466514822747 1.0 0.3656561434255416 29 P01889,Q13510,Q14739,P10619,Q9NZ08,P21912,P28070,Q9NW15,P04066 9 |
| Hyperlipidemia 0.500595714250382 2.215125199560452 0.0267514722219324 1.0 0.3656561434255416 31 Q9UJS0,P50416,P02545,Q9BTV4,O75431,P50402,P28070,P23786,O75844,O95470,P06280 11 |
| Abnormal pupillary function 0.8426730874181891 2.2143215050411515 0.0268066703054998 1.0 0.3656561434255416 6 Q9NR77,P07602 2 |
| Abnormality of the tongue 0.3879975983735892 2.2139641760413893 0.0268312433805733 1.0 0.3656561434255416 96 O43924,P02545,P16278,Q9NWS8,P40855,P04066,P56589,Q96RL7,P01889,Q96A33,P21912,P61978,O75844,O75381,Q10713,Q7LGA3,Q13510,P20700,O75431,P07196,Q9Y4P3,Q9BQT8,O95831,Q03252,P48651,P98175 26 |
| Avascular necrosis 0.5456889240667739 2.212813638336552 0.0269104966222757 1.0 0.3656561434255416 25 P04062,P02545,Q9NZ08,O75844,Q14108,P51798,Q9Y619 7 |
| Abnormality of the distal phalanges of the toes 0.8942363112391913 2.2128053894181487 0.0269110655668629 1.0 0.3656561434255416 5 O75844,Q7LGA3,O75431,P02545 4 |
| Abnormality of the mitochondrion 0.38481885438274 2.2125575325505986 0.0269281656011057 1.0 0.3656561434255416 99 Q7KZN9,O43676,Q9UBX3,Q9NPL8,Q9P0J0,Q9Y2R0,O75880,P00846,P13073,Q96CU9,Q9GZY8,P00403,Q70HW3,P21912,P35637,O96000,Q9Y584,O43772,Q86Y39,Q8IUX1,Q9Y6M9 21 |
| Progressive psychomotor deterioration 0.7358123784354185 2.2053694349681985 0.0274281810454604 1.0 0.3670791722625883 9 Q10713,P07602,P16278,P21912,Q9NZJ7 5 |
| Aplasia hypoplasia involving the vertebral column 0.642933578734895 2.196988364407457 0.0280212772172381 1.0 0.372867654432246 15 P08236,Q14739,P16278,Q7RTS9,O95831,P04066 6 |
| Achilles tendon contracture 0.7082391112222985 2.189719446454609 0.0285445898647778 1.0 0.3731382949966707 10 Q8N2K0,O60313,P02545,P50402 4 |
| Abnormality of skull ossification 0.6816953044529435 2.1893467844243455 0.0285716443542609 1.0 0.3731382949966707 12 Q14739,P02545,P54802,O75844,O75718,Q9HC21 6 |
| Slender long bone 0.6552880633255733 2.187702351702495 0.0286912906596779 1.0 0.3731382949966707 14 Q32P28,Q9Y487,Q96L58,Q9H490,P37268,Q9Y619 6 |
| Segmental peripheral demyelination remyelination 0.88777139528562 2.1858165805108425 0.0288290272179791 1.0 0.3731382949966707 5 Q9NR77,P00846 2 |
| Psychomotor deterioration 0.7318161005156736 2.1851864353958343 0.0288751796853348 1.0 0.3731382949966707 9 Q9Y487,Q03164,P50897,P07602,Q9NZJ7 5 |
| Nasogastric tube feeding in infancy 0.7317881150417398 2.185044935389053 0.0288855520304021 1.0 0.3731382949966707 9 Q9UHX1,P07602,P06753,Q9NZJ7,O75648,P61978 6 |
| Abnormality of the musculature of the thigh 0.7557049770752964 2.183407723326592 0.0290057976946163 1.0 0.3731382949966707 8 P07196,O14979,P02545,P50402 4 |
| Temperature instability 0.7549274256291737 2.179614125894531 0.0292860768199181 1.0 0.3749028528952327 8 P07602,Q9HC21,Q9NZJ7 3 |
| Young adult onset 0.6671554626708815 2.17936691403003 0.029304421964033 1.0 0.3749028528952327 13 P02545,P07602,P38435,O15118,Q9NZJ7,P36551,Q9H0U3 7 |
| Babinski sign 0.3908603248367046 2.174891237703562 0.0296382676993807 1.0 0.3781321846041869 90 Q6DKK2,Q9NR77,Q99720,Q9H6K4,P07602,Q9NZJ7,P07196,P11166,O14773,P00846,P35637,Q8N2K0,O60313,P41440,P21912,O15121,O95831,Q15067 18 |
| Abnormality of extrapyramidal motor function 0.3962528131635239 2.1725466815260868 0.0298144525695553 1.0 0.3789464925900112 83 Q6DKK2,P16278,Q9NZJ7,O43464,O14949,Q96RL7,Q86SQ9,Q9H6K4,Q99720,P05067,P35637,P12235,P11166,P35610,O75569,P07602,Q9BPX6,Q96IX5,O96008,Q9Y4P3,P06865,P04062,Q9H9P8,P98175,P17900 25 |
| Lacticaciduria 0.8329857667215431 2.171872356897654 0.0298652920516675 1.0 0.3789464925900112 6 P00846,O96000 2 |
| Abnormal middle phalanx morphology of the hand 0.6904043566600062 2.1639155494608984 0.0304708313320805 1.0 0.381928111435408 11 P48651,Q03164,P02545,Q9UHX1 4 |
| Thickened skin 0.3712592520363412 2.162428612934289 0.0305851540742232 1.0 0.381928111435408 108 P02545,P16278,P98194,P40855,P04066,P16615,Q9BTV4,Q9Y2B2,Q06136,P21912,P28070,O75844,Q15800,Q9NWM8,O75381,O75431,Q15125,P42167,P04062,Q14739,P50402,P00813,P51648,O95721,O95470 25 |
| Central apnea 0.7267309286214247 2.1594381276110672 0.0308161925984229 1.0 0.381928111435408 9 P11166,P07602,O76024,Q9NZJ7 4 |
| Neuronal loss in central nervous system 0.6363418098529507 2.157376632934559 0.0309763303921524 1.0 0.381928111435408 15 P04062,P07602,O15118,Q9NZJ7 4 |
| Spastic tetraparesis 0.5177160959042261 2.156268480800347 0.0310627069421089 1.0 0.381928111435408 27 Q9NZB8,Q9H9P8,P07602,P21912,Q9NZJ7,P00846,Q7RTS9,P17900 8 |
| Abnormal cellular phenotype 0.3909912321055529 2.155424012095395 0.0311286690144043 1.0 0.381928111435408 201 Q7KZN9,O43676,P02545,Q9UBX3,Q9NPL8,Q9P0J0,Q9NZJ7,P15586,Q9Y2R0,O75880,P00846,P13073,Q6PGP7,Q96CU9,Q9GZY8,Q14108,P00403,P09601,Q70HW3,P21912,P35637,P28070,O75844,P12235,P11166,O96000,P51798,Q9Y584,Q96RD7,O75503,Q13510,O43772,Q86Y39,Q15904,P07602,Q8IUX1,Q9Y6M9,Q9BV10,P78536,P04062,Q14739,P21964,O14773,P00813 44 |
| Visual loss 0.4441169026245316 2.1540699649636488 0.0312346855306375 1.0 0.381928111435408 54 P01889,O75503,P50897,P07602,P04439,Q9NZJ7,P53701,P00846,O14773,P00403,P51798 11 |
| Laryngomalacia 0.6214609050037535 2.153853606031571 0.0312516542518206 1.0 0.381928111435408 16 P07602,P21964,P02545,P16435 4 |
| Peripheral axonal neuropathy 0.4134098915499106 2.148176602360641 0.0316997286913325 1.0 0.383847319822683 62 Q15067,Q96RL7,Q8IV08,P22626,P39210,P07602,O76024,Q9NZJ7,Q9BPX6,P07196,P00846,O60313,Q9NVI7,P12235,P00403,O95831,Q9HC21 17 |
| Sensory neuropathy 0.4840547543825536 2.1391724647091355 0.0324217033428446 1.0 0.3900683687154679 36 Q96RL7,Q8IV08,P22626,P00846,O60313,Q15041,P00403,O95831,Q15067 9 |
| Abnormal brainstem mri signal intensity 0.5546710072892128 2.1352942258530323 0.0327369842857825 1.0 0.3918180347098182 23 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,Q96CU9,O96000,O95831 8 |
| Flat face 0.5148436867187509 2.133030940633526 0.0329221881364423 1.0 0.3920272864247132 27 Q9NX62,P56589,P08236,Q9Y487,Q03164,Q96L58,O75381,P40855,Q15125,Q13555 10 |
| Abnormality of the umbilical cord 0.7207041015423574 2.1288264009781797 0.033268625781659 1.0 0.3942514793179755 9 O75844,P02545,P16435 3 |
| Macular degeneration 0.6314187193517496 2.1276795837738605 0.0333636587794927 1.0 0.3942514793179755 15 P04062,Q13510,P50897,P51648,Q9NW15 5 |
| Somatic sensory dysfunction 0.3658467822685741 2.116285157932432 0.03432056228744 1.0 0.4012767347750527 110 Q9NR77,P02545,Q8IV08,Q9NZ08,Q9NZJ7,P00846,P41440,Q96RL7,P01889,Q9H6K4,P05067,Q13217,P61978,P11166,O43819,P06280,P07602,P20700,P54802,P07196,Q8N2K0,Q9Y619,O95831,P39210,Q8NCH0,O15269,O14773 27 |
| Abnormal exteroceptive sensation 0.426662395592927 2.1134411591358737 0.0345630262510812 1.0 0.4012767347750527 58 Q9NR77,P01889,Q8NCH0,Q9H6K4,O15269,Q9NZ08,P05067,P07602,Q9NZJ7,P54802,P07196,P61978,P11166,P06280,O95831,P39210 16 |
| Thoracic hypoplasia 0.4829178676308119 2.1117869388776347 0.0347047280746615 1.0 0.4019171001963294 35 P04062,Q14739,P02545,Q9UHX1,Q7Z4L5,Q96A33,Q8WVQ1,P16435,O75718,P51798 10 |
| Abnormality of lysosomal metabolism 0.8690563582310525 2.107261291296599 0.0350949367079755 1.0 0.4054250897309419 5 P07602,P51798,Q13510 3 |
| Acquired abnormal hair pattern 0.7786877639617388 2.104386608872718 0.0353447365740182 1.0 0.4054670792826267 7 O75844,P02545 2 |
| Emg chronic denervation signs 0.6408671963371407 2.1032555655644125 0.0354434353962826 1.0 0.4054670792826267 14 Q13510,P22626,P07602,Q9NZJ7,O60313,O43819,P39210 7 |
| Central scotoma 0.7156754288283291 2.1032054856263818 0.0354478109794889 1.0 0.4054670792826267 9 Q9H6K4,P00846,Q9H061 3 |
| Barrel shaped chest 0.8664562807888516 2.096297825895282 0.0360557794955087 1.0 0.4114079606318001 5 Q7RTS9,Q14739,P04066 3 |
| Airway obstruction 0.604271689784718 2.095115595197097 0.0361607179354162 1.0 0.4115940541472373 17 P21964,P02545,P09601,Q96HY6,P16435,O75844 6 |
| Abnormal csf protein level 0.6520815670278799 2.0934604131823944 0.0363080743398109 1.0 0.4122608734329638 13 Q9NR77,P03915,P49792,P07602,P20700,Q9NZJ7,P55011,O43681,P00403 9 |
| Bowing of the legs 0.4171724123325305 2.0923826021779592 0.0364043038440822 1.0 0.4123453342729703 60 Q9NX62,Q9NR77,Q7LGA3,P08236,Q32P28,Q96L58,P16278,O75431,Q8WVQ1,Q7RTS9,Q96HY6,P16435,Q9Y619,O75718,P51798 15 |
| Abnormal shape of the frontal region 0.364418340488972 2.0873461517897236 0.0368568557538695 1.0 0.4150749594012402 111 O43924,P16278,P15586,P13073,Q6PGP7,O95202,P04066,Q9Y487,O96028,Q9Y2B2,P51798,Q15067,Q9NZB8,O75431,Q9Y619,Q15392,Q15125,P55263,P48651,Q14739,Q9NVI7,P16435 22 |
| Short nose 0.3710456330237413 2.0873332439843457 0.0368580217168481 1.0 0.4150749594012402 104 Q9NX62,Q9Y487,Q03164,Q96L58,O75844,Q9UHX1,Q9NZB8,P20700,Q9Y4P3,Q15392,O75845,P04062,P42892,Q8NCH0,P38435,Q9H490,Q8WVQ1,Q9NVI7,P16435 19 |
| Abnormality of fontanelles 0.4604861785099404 2.086720272015049 0.0369134276986891 1.0 0.4150749594012402 45 P20674,P56589,P48651,Q9Y487,P02545,Q32P28,Q9BT22,Q8NCH0,P98175,P36543,O75381,Q6NUK1,P16435,O75844,O75718,P40855,Q15125,Q9Y619 18 |
| Generalized hyperkeratosis 0.8631155815119891 2.08219376472827 0.0373247745894678 1.0 0.4178410209882942 5 O75844,P02545,P04066 3 |
| Abnormality of the gastric mucosa 0.6371850948228371 2.081568387101131 0.0373819114793343 1.0 0.4178410209882942 14 Q6PGP7,P04062,Q14739,O76024 4 |
| Scotoma 0.6620075854112154 2.0801184540165742 0.0375146693508789 1.0 0.4178410209882942 12 Q9H6K4,P04439,P00846,Q9H061 4 |
| Endocarditis 0.8114957358099011 2.077010440122622 0.0378005956508902 1.0 0.4189641198155947 6 P04062,Q9NZ08 2 |
| Abnormality of corneal stroma 0.6361208455793017 2.0752906100207533 0.0379596091885172 1.0 0.4197153929573454 14 P04062,Q13510,P10619,P16278,O75845 5 |
| Abnormal tongue morphology 0.3954567430473559 2.073104225155456 0.0381625808871912 1.0 0.4197153929573454 72 O43924,P02545,P16278,P04066,Q96RL7,P01889,Q96A33,P21912,P61978,O75844,Q7LGA3,Q10713,P20700,O75431,P07196,Q9Y4P3,Q03252,P48651,P98175 19 |
| Increased csf lactate 0.4268192500670872 2.07288245664257 0.038183220084742 1.0 0.4197153929573454 57 Q7KZN9,O43676,Q86Y39,Q9NPL8,P39210,Q8IUX1,Q9P0J0,Q9Y6M9,Q9NWS8,P00846,O43464,P13073,Q96CU9,P00403,O96000,O95831,Q9HC21 17 |
| Abnormality of peripheral nerves 0.4505262643627088 2.0718048500503667 0.0382836442070615 1.0 0.4197153929573454 49 Q9NR77,Q96RL7,P02545,Q99720,P07602,Q9NZJ7,P07196,Q8N2K0,O95721,Q9Y619,Q9GZY8,O15121,O95831,P39210 14 |
| Decreased absent ankle reflexes 0.6081385551005711 2.070722330950571 0.0383847521290809 1.0 0.4197153929573454 16 Q96RL7,Q9H6K4,P07196,O60313,Q15041 5 |
| Abnormal atrioventricular conduction 0.6347206628995041 2.0670247763197054 0.0387318193894483 1.0 0.4197153929573454 14 P02545,O43772,Q9BTV4,P0DP25,P50402,P21912 6 |
| Ascending tubular aorta aneurysm 0.859288081828273 2.066010107307436 0.0388275252333121 1.0 0.4197153929573454 5 O75844,P01889,P02545 3 |
| Abnormally lax or hyperextensible skin 0.4562157325752632 2.0627785766496207 0.039133670359718 1.0 0.4197153929573454 46 P04062,P48651,Q9Y487,Q8NCH0,Q9UHX1,Q15904,Q96L58,P38435,Q9BV10,Q9NWM8,O96000 11 |
| Abnormal pericardium morphology 0.6458331458617679 2.0576134116047715 0.0396272581924885 1.0 0.4240299240689331 13 P04062,P01889,P02545,O15460,Q9NZ08,Q14108 6 |
| Abnormal mitochondria in muscle tissue 0.5346866703635763 2.0553176367644785 0.0398483349183158 1.0 0.4254153272658823 24 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,P00403,O96000 7 |
| Hypoglycemic seizures 0.7677509745307869 2.0532912657351727 0.0400443374568864 1.0 0.4265273008022487 7 Q13423 1 |
| Pain 0.3829125654816168 2.050940515199285 0.0402727399757225 1.0 0.4279784998793033 186 Q9NR77,P02545,Q8NFH4,Q13423,Q9NZ08,Q9NZJ7,P00846,O60313,Q15165,Q14108,P01889,Q9H6K4,Q9BTV4,Q70HW3,P21912,P35637,P28070,O75844,Q15800,Q5HYI8,Q01844,P12235,P06280,P51798,Q13510,O75569,P22626,P07602,Q8IUX1,P20700,P36551,Q9Y4P3,P04062,P42892,Q03252,Q14739,P21964,O15269,P50402,Q8N1F7,Q96HY6,P23786,Q92804,P46020 44 |
| Positive romberg sign 0.6679041193200346 2.0417795108224386 0.0411734075540919 1.0 0.4311755612360307 11 P07196,Q9H6K4,Q8IV08 3 |
| Premature rupture of membranes 0.8026353745013506 2.03762270906805 0.0415876791809757 1.0 0.4311755612360307 6 O75844,Q9Y487 2 |
| Abnormal arterial physiology 0.492670261203202 2.037288181565032 0.0416211714760197 1.0 0.4311755612360307 28 P01889,P02545,Q14739,P05067,Q9NZ08,O75844,Q9NWM8,P06280 8 |
| Psoriasiform dermatitis 0.8518767516118024 2.034599488389568 0.0418911889002948 1.0 0.4311755612360307 5 P10321,Q15800,P01889 3 |
| Abnormal pyramidal sign 0.3677879777521218 2.0336767254247574 0.0419842003156794 1.0 0.4311755612360307 129 Q6DKK2,Q9NR77,Q9NZ08,Q9P0J0,Q9NZJ7,P00846,O60313,P41440,O15121,P04066,P01889,Q99720,Q9H6K4,P21912,P35637,P11166,P51572,Q15067,O75569,P07602,P07196,Q8N2K0,Q9Y619,O95831,Q9H9P8,O14773,P51648,P17900 28 |
| Mucosal telangiectasiae 0.7020882916313326 2.033621388179 0.0419897836749121 1.0 0.4311755612360307 9 P10619,Q8IZA0,Q14739,P21912 4 |
| Narrow nasal ridge 0.8016881024547752 2.033402268622607 0.0420118983401962 1.0 0.4311755612360307 6 O75844,P02545 2 |
| Ovarian cyst 0.6157938968446713 2.032790538875075 0.0420736894066795 1.0 0.4311755612360307 15 P16435,Q03252,P02545,P21912 4 |
| Abnormal auditory evoked potentials 0.7016141288216461 2.0311836494065005 0.0422363683833808 1.0 0.4311755612360307 9 P07602,Q9NZJ7,P07196,O60313,Q15125 5 |
| Abnormality of the calf 0.3918196958420016 2.0311004455771227 0.0422448062795852 1.0 0.4311755612360307 73 Q9NX62,Q9NR77,Q7LGA3,P08236,Q32P28,Q96L58,P16278,O75431,Q8WVQ1,Q7RTS9,Q9BV10,Q96HY6,Q9Y619,O75718,P16435,O95831,P51798 17 |
| Joint stiffness 0.4119455070206601 2.02909415865214 0.0424487007655767 1.0 0.4316703431444407 60 P08236,P01889,P02545,Q9BTV4,P16278,O76024,O75431,P15586,P54802,P50402,P51648,P16435,O75844 13 |
| Nonimmune hydrops fetalis 0.5015311513035507 2.0246145534670372 0.0429069586760788 1.0 0.4322340913052282 27 P04062,Q14739,O96000,Q9BT22 4 |
| Undetectable electroretinogram 0.8483342019383976 2.01955141594656 0.0434299389685088 1.0 0.4365554904107256 5 P50897,O14773 2 |
| Thin ribs 0.6263019860381106 2.017171680475056 0.0436776003255121 1.0 0.4366949329278209 14 P02545,O75431,O75844,O95831,Q9Y619 5 |
| Aortic valve stenosis 0.6754470014450059 2.016023161186318 0.0437975539318007 1.0 0.4366949329278209 10 O75844,P04062,Q15125,P16278 4 |
| Periventricular white matter hyperintensities 0.6985911030143684 2.0156270078982788 0.0438389934308383 1.0 0.4366949329278209 9 P17900,P07602,O75503 3 |
| Proximal upper limb amyotrophy 0.7590233342448922 2.012319821447992 0.044186234295799 1.0 0.4375285118756732 7 O14979,P02545,P50402 3 |
| Abnormality of the musculature of the upper arm 0.7590233342448922 2.012319821447992 0.044186234295799 1.0 0.4375285118756732 7 O14979,P02545,P50402 3 |
| Abnormality of the tarsal bones 0.4895081853704103 2.010687061326826 0.044358521543045 1.0 0.4382999447785136 28 O75787,Q5SRE5,Q14739,P02545,Q9UHX1,O15357,Q15058,Q14999,P98175,Q99567,Q9UPT5,Q8WVQ1,Q7RTS9,Q9NXE4,P16435,O75844,Q15125 17 |
| Elbow flexion contracture 0.4993603606951904 2.0068241878723607 0.0447683864288184 1.0 0.4414105872089867 27 Q7LGA3,P48651,P02545,Q9BTV4,Q96L58,P37268,P50402,P16435 8 |
| Poor eye contact 0.4553354360428314 2.001862251996094 0.0452995484569125 1.0 0.4425281306073356 43 Q15907,O43676,Q9UHX1,Q86Y39,Q9NPL8,Q8IUX1,Q9P0J0,Q9Y6M9,Q5XKP0,Q96CU9,O96000 11 |
| Abnormal retinal vascular morphology 0.436089556348563 2.000010975533875 0.0454990787500022 1.0 0.4425281306073356 52 P06865,P21964,Q13510,Q86SQ9,P10619,P07602,P38435,P16278,P04439,P21912,Q9NZJ7,Q96S66,P00846,Q9Y4P3,P17900 15 |
| Alkalosis 0.8411753770720021 1.989075384193827 0.0466928828954438 1.0 0.4475451287753093 5 Q9Y619 1 |
| Glomerulopathy 0.6580557638076325 1.9878091158403437 0.0468328051723785 1.0 0.4475451287753093 11 Q03252,P01889,P02545,Q9NZ08,Q14108 5 |
| Deformed sella turcica 0.8405857437360387 1.9865612835944324 0.0469710352396641 1.0 0.4475451287753093 5 P08236,Q7RTS9 2 |
| Action tremor 0.4002262088616433 1.9837590102978448 0.0472827116376075 1.0 0.4481243119286724 62 Q9NR77,Q96RL7,O75569,Q99720,Q9H6K4,P07602,Q9NZJ7,P35637,P00846,Q8N2K0,P41440,O14773,Q9NW15,Q14108 14 |
| Increased circulating antibody level 0.6202940663607472 1.981433331037897 0.0475426989808587 1.0 0.4496706600144763 14 P04062,P00813,Q14108 3 |
| Dysphagia 0.3695231771787149 1.979668027755173 0.0477408434320532 1.0 0.4502094640836849 145 Q9NR77,Q9NZJ7,P15586,P00846,O60313,Q9GZY8,Q14108,Q96RL7,P01889,Q03164,Q99720,P05067,Q01105,O76024,P21912,P35637,P12235,Q15067,Q13510,Q9UHX1,O75569,P07602,P04062,Q14739,Q8IZA0,O15118,Q96D71 27 |
| Epiphyseal stippling 0.6440234519968536 1.9791994554533112 0.0477935542190475 1.0 0.4502094640836849 12 P08236,Q14739,P38435,O75381,P40855,Q15125 6 |
| Submucous cleft of soft and hard palate 0.5417864429394909 1.976711935553526 0.0480742008959058 1.0 0.451696898512697 22 Q7LGA3,P48651,P02545,O75844,Q15392,Q9Y619 6 |
| Abnormality of alkaline phosphatase level 0.5054978873689723 1.9760776154094135 0.0481459872445704 1.0 0.451696898512697 26 Q9UJS0,Q14739,P22626,Q8N511,Q9Y2B2,Q96A33,O75845,P51798,Q92643 9 |
| Abnormal nephron morphology 0.3951978297109916 1.9732425831329736 0.0484679310347218 1.0 0.4534917716152338 63 P02545,Q92621,Q8NFH4,Q9NZ08,Q02978,P00846,Q14108,P00403,P01889,P21912,O43819,P06280,O75431,Q9Y4P3,Q03252,P00813,Q8N1F7,P23786,O95470 19 |
| Limited elbow movement 0.4640804644145294 1.9724784628279357 0.0485550125502649 1.0 0.4534917716152338 37 Q7LGA3,P48651,P02545,Q9H6K4,Q96L58,Q9BTV4,P37268,P50402,Q7RTS9,P16435 10 |
| Abnormal metatarsal morphology 0.4948479377711387 1.969743994819017 0.0488677180936327 1.0 0.454271942149063 27 Q03252,P08236,O96028,O43505,Q8WVQ1,Q7RTS9,P16435,Q15392,O95202 9 |
| Wide cranial sutures 0.7483969987064407 1.9622014644773265 0.0497390335125949 1.0 0.4550050804392039 7 O75844,O75718,P02545 3 |
| Migraine 0.5035674152250509 1.9605903979677464 0.0499268233821768 1.0 0.4550050804392039 26 P01889,P05067,Q9NZ08,O60313,Q9NQZ5,P11166,P00403 7 |
| Cutis laxa 0.4703841996577843 1.959954476384018 0.0500011114200424 1.0 0.4550050804392039 32 P48651,Q9Y487,Q8NCH0,Q15904,Q96L58,P38435,Q9BV10,O96000 8 |
| Abnormal diaphysis morphology 0.3838484811996287 1.958561072918828 0.0501642121414454 1.0 0.4550050804392039 78 Q9NX62,Q9NR77,P08236,P16278,Q9Y487,Q96L58,Q7RTS9,P51798,Q7LGA3,O75431,Q9Y619,Q9HC07,P48651,Q14739,Q32P28,Q8WVQ1,Q96HY6,P16435,O75718 19 |
| Atlantoaxial abnormality 0.8332790651207281 1.9553572427144368 0.0505409191037171 1.0 0.4566381873884484 5 Q9NWM8,Q7RTS9,Q8NCH0 3 |
| Equinovarus deformity 0.7837506813554416 1.9531436637192163 0.0508025743400675 1.0 0.4581109810393661 6 Q9NR77 1 |
| Paralysis 0.4228050022501958 1.950081796424308 0.0511663705530374 1.0 0.4604973349773367 55 P17900,Q9NR77,P04062,P02545,Q9BTV4,P20700,P21912,P50402,P35637,Q92804,Q15165,P11166,P51798,Q9HC21 14 |
| Atrophy degeneration involving the caudate nucleus 0.8305531004552242 1.943692343718513 0.0519325624504938 1.0 0.4646913680541297 5 P00846 1 |
| Supranuclear gaze palsy 0.546587742232659 1.9413367458369168 0.0522174452204011 1.0 0.4661221590756546 21 P04062,Q96RL7,Q99720,P07602,O15118,Q9NZJ7 6 |
| Hepatomegaly 0.37606070806076 1.939033172432556 0.0524972990055947 1.0 0.4661519246309407 185 O43676,P08236,P02545,Q9NPL8,P16278,Q9NZJ7,P15586,Q9NWS8,O75880,P00846,Q6PGP7,Q96CU9,P40855,Q14108,Q9UGP8,P04066,P56589,Q96RL7,P50416,Q86SQ9,P09601,Q96A33,P28070,Q9H0U3,Q01844,P11166,O75381,O96000,P51798,Q15067,Q9HC21,P35610,Q13510,O43772,Q86Y39,Q15904,P07602,Q8IUX1,O75431,P54802,Q9Y6M9,P36551,Q9Y619,P14927,O75845,P33991,P39210,Q9HC07,P04062,Q14739,Q9BT22,P00374,O15118,P00813,Q9NVI7,Q96HY6,P23786 57 |
| Chronic diarrhea 0.5630337318651681 1.931750444084558 0.0533903153053578 1.0 0.4717497786345299 19 P00813,Q13510,Q96A33,Q9BT22 4 |
| Hyperconvex nail 0.7046395987625534 1.9309127224904952 0.0534938465764791 1.0 0.4717497786345299 8 Q9Y619,O95202,P42892,P48651 4 |
| Acetabular dysplasia 0.6595786636976048 1.930789224964284 0.0535091234023761 1.0 0.4717497786345299 10 Q9Y584,P08236,P16278 3 |
| Basal ganglia cysts 0.7417216180471934 1.9305877731527108 0.05353405110689 1.0 0.4717497786345299 7 P00846 1 |
| Slow saccadic eye movements 0.6231999878422074 1.9266160263972736 0.0540274998831351 1.0 0.4747134647461575 13 P04062,Q8IV08 2 |
| Abnormalities of placenta or umbilical cord 0.5852613497205174 1.9262368131942276 0.0540748111220321 1.0 0.4747134647461575 16 P02545,P16278,P16435,Q6PGP7,O75844 5 |
| Broad palm 0.7033992574835386 1.9246963491728304 0.0542673575097865 1.0 0.4755049212744311 8 Q14739,O95831 2 |
| Erythema 0.5174075483598007 1.9236115650630852 0.0544032903339173 1.0 0.4757982680051075 24 P01889,Q9Y2B2,Q06136,Q15125,P53701,P51648,P98194,P00403 8 |
| Generalized joint laxity 0.6219898309461414 1.9195615053046484 0.0549133103624706 1.0 0.4784566854095938 13 Q8NCH0,Q9UHX1 2 |
| Abnormality of the cerebrospinal fluid 0.3690303188564238 1.918230661639881 0.0550817699880425 1.0 0.4790257300083704 157 Q9NR77,Q7KZN9,O43676,P08236,Q9NPL8,Q9P0J0,Q9NZJ7,Q9NWS8,P00846,O43464,P13073,Q96CU9,O95202,P00403,P40855,O96028,Q96L58,P11166,O43819,O96000,P51798,Q9HC21,Q10713,Q86Y39,P07602,Q8IUX1,P20700,Q9Y6M9,O43681,Q15392,Q15125,O95831,P39210,P04062,Q03252,P48651,P21964,P23786,P49792,P07237,Q9H490,O43505,P53701,P16435 44 |
| Tetraplegia tetraparesis 0.4228736999640794 1.9164276466842785 0.05531068458276 1.0 0.4799935562816481 54 Q9UBX3,Q13423,Q9NZB8,P07602,P20700,Q9H9P8,P21912,Q9NZJ7,P35637,P00846,Q7RTS9,P17900,P51572,O95831 14 |
| Ichthyosis 0.458041971712038 1.9157276341459104 0.0553997730764348 1.0 0.4799935562816481 37 P04062,P02545,Q9BTV4,O95470,Q9Y2B2,P50402,O95721,P51648,Q15800,P40855,Q15125 11 |
| Abnormal sella turcica morphology 0.6789206583207185 1.913780721833652 0.0556481797595604 1.0 0.4809267648833266 9 P08236,P16278,Q7RTS9 3 |
| Upper limb muscle weakness 0.497685721026138 1.913261378504439 0.0557145993770951 1.0 0.4809267648833266 26 P02545,Q9BTV4,P50402,P07196,P00846 5 |
| Abnormality of the knee 0.369947570852555 1.8982406764773 0.0576643847168463 1.0 0.4931229589071757 92 Q9NX62,Q9NR77,P08236,P16278,Q96L58,P21912,Q7RTS9,Q15041,P51798,Q7LGA3,Q13510,O75431,P37268,Q9Y4P3,Q9Y619,Q15125,O95831,P48651,P21964,Q8WVQ1,Q86XL3,Q96HY6 22 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3607920721227966 1.8978370262699131 0.0577175540403402 1.0 0.4931229589071757 102 Q9NX62,P02545,P13073,O95202,Q13555,Q03164,O96028,Q9Y2B2,Q7Z4L5,Q96A33,Q7RTS9,Q7LGA3,Q13510,Q9UHX1,O75431,Q9BV10,Q9Y619,O95831,P00813,Q8WVQ1,Q96HY6 21 |
| Progressive neurologic deterioration 0.5403990847836072 1.8971188653820508 0.0578122518667489 1.0 0.4931229589071757 21 Q10713,P04062,Q9NPL8,P07602,P20700,P16278,P21912,Q9NZJ7,P54802,Q5XKP0 10 |
| Abnormal placenta morphology 0.6978178135793248 1.8966753139200367 0.0578708037477198 1.0 0.4931229589071757 8 O75844,P16278,P02545 3 |
| Poor wound healing 0.7708285715034934 1.8949301180078857 0.0581016604326742 1.0 0.4941833535702186 6 P04062 1 |
| Proximal muscle weakness in upper limbs 0.6049976006169001 1.8898424889184549 0.0587790290922771 1.0 0.498120093256451 14 P07196,Q9BTV4,P02545,P50402 4 |
| Ascites 0.4940633004831799 1.884005893984826 0.0595641782236768 1.0 0.5034510641811695 26 P04062,Q14739,Q13510,O15118,Q14108 5 |
| Bilateral sensorineural hearing impairment 0.4936625136750884 1.8807640973409392 0.0600040160576944 1.0 0.5039035272548518 26 P03915,P38159,P07602,Q13217,Q9NZJ7,P55011,P35637,Q13501,Q96RR1,O43681,P00403,Q15067 12 |
| Purpura 0.52835322754428 1.8782856976557507 0.0603420920562562 1.0 0.5043877255514996 22 P04062,Q8NCH0,P21964,P51798 4 |
| Shoulder girdle muscle weakness 0.6257701063289981 1.8756724455067133 0.0607002717887446 1.0 0.506089878253016 12 P07602,P06753,Q9NZJ7,P12235,Q96RR1,P43243,O14979 7 |
| Underdeveloped supraorbital ridges 0.6142143318694417 1.8741147335670447 0.0609146130093203 1.0 0.506951636013107 13 P56589,P98175,P40855,P16435,Q6PGP7,O75381 6 |
| Erlenmeyer flask deformity of the femurs 0.9227888216652312 1.873336329355903 0.0610219561867628 1.0 0.506951636013107 4 P04062,P07602,P51798 3 |
| Macrovesicular hepatic steatosis 0.6924210733205957 1.8695076880347068 0.0615522150354843 1.0 0.5077237773086845 8 Q5XKP0,P39210,O75431,P23786 4 |
| Elevated hepatic transaminase 0.3598716234733894 1.8684886629150377 0.0616939889091681 1.0 0.507990929954214 101 P20674,Q8N511,O75880,P40855,Q9UJS0,Q96RL7,P50416,P01889,Q86SQ9,P28070,P16930,Q5HYI8,P12235,Q15067,Q10713,Q13510,O43772,Q15904,O75431,O75648,Q96RR1,Q9BV10,Q9Y619,P28288,O75845,P39210,P55263,Q9HC07,P04637,Q14739,P22695,P23786,Q5XKP0 33 |
| Abnormal electroretinogram 0.4481566852764395 1.8597764765346456 0.0629171568118791 1.0 0.5162319368098353 39 O43924,Q86SQ9,P50897,O14773,P00846,Q53H12,P12235,Q04837,Q15067 9 |
| Impaired vibratory sensation 0.4588311283742393 1.85622259505676 0.063421836758619 1.0 0.5194550439277367 32 Q9NR77,Q96RL7,P07196,O14773,P00846 5 |
| Abnormal aortic valve morphology 0.4428696850359914 1.8529488881685392 0.0638896849318049 1.0 0.5223656634213064 41 P04062,P01889,P02545,Q9UHX1,P21964,Q96L58,P37268,Q6PGP7,O75844,P06280 10 |
| Orthostatic hypotension due to autonomic dysfunction 0.6448732994808357 1.851129014884653 0.0641509948155576 1.0 0.5226617893393853 10 P04062,P07602,P20700,Q9NZJ7 4 |
| Rimmed vacuoles 0.5733151231590963 1.8499321721575748 0.0643233262144815 1.0 0.523148033169969 16 P02545,Q86U42,P22626,Q9BTV4,O75190,P50402,P43243,O14979,P31483,Q13501 10 |
| Decerebrate rigidity 0.8078547126443598 1.8460800259516048 0.0648805865935426 1.0 0.5256578828538959 5 P07602,P16278,Q9NZJ7 3 |
| Left ventricular systolic dysfunction 0.7232930363435892 1.8428027777148557 0.0653578111159045 1.0 0.5256578828538959 7 O75844,P12235,P02545 3 |
| Decreased number of peripheral myelinated nerve fibers 0.5578717691375352 1.8427673259937276 0.0653629892877918 1.0 0.5256578828538959 18 Q9NR77,Q96RL7,P02545,P07196,P39210 5 |
| Focal t2 hyperintense brainstem lesion 0.5416340126871634 1.842664764422324 0.0653779716064788 1.0 0.5256578828538959 20 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,O96000 6 |
| Muscle stiffness 0.5226072862257198 1.8358977866868744 0.0663727751110119 1.0 0.5287052617762253 22 Q15392,P07602,Q9NZJ7,P00846,P23786,Q9NW15,P11166,P53985 8 |
| Prominent superficial blood vessels 0.6304794703016804 1.8350624156329636 0.0664964419438258 1.0 0.5287833499779577 11 O75844,P48651,Q9Y487 3 |
| Ectopic calcification 0.3801207040082561 1.8330960086985528 0.0667882945832014 1.0 0.5301963077681838 64 P04062,P08236,Q14739,P02545,O00584,P05067,P38435,O75431,Q15125,P11166,O60313,O75381,P23786,O75844,P40855,P00403,O75845 17 |
| Dyschromatopsia 0.6850522075255785 1.832296311161668 0.0669072863947444 1.0 0.5302345358655172 8 Q9H6K4,Q9H061 2 |
| Abnormal circulating bilirubin concentration 0.4582278893767658 1.830474874452844 0.0671789605112986 1.0 0.5308894019335908 29 P55263,Q9UJS0,Q14739,O75648,P11166,P36551,P41440,P23786,P40855,Q9UGP8,O75845 11 |
| Duplication involving bones of the feet 0.4965022283923287 1.830064733452054 0.067240259656059 1.0 0.5308894019335908 25 O43924,Q14739,P21964,Q7Z4L5,O95202,Q15125,O75845 7 |
| Emg abnormality 0.3754630360117716 1.8294456647882664 0.0673328720367969 1.0 0.5308894019335908 76 Q9NR77,P02545,Q9NZJ7,O60313,P43243,O75340,Q96RL7,Q9BTV4,P12235,Q9NW15,P03915,O43819,Q13510,P22626,P07602,P13473,P53007,P42166,P07196,P51114,Q96RR1,O43681,P39210,P42167,O15269,P06753,P50402,O14773 28 |
| Falls 0.6624580161855708 1.8277302927651944 0.0675900394267865 1.0 0.5320138018610113 9 Q96RL7,Q8WVX9,P21912,Q01082,Q9BQT8 5 |
| Respiratory arrest 0.6621486708816198 1.8261063997943352 0.0678342364071373 1.0 0.5330324769454245 9 O43772,Q96L58,P13473,P53007,Q9H0U9,P23786 6 |
| Flat forehead 0.8030273759797868 1.825212199519385 0.0679690135414263 1.0 0.5331893562270001 5 Q8NCH0 1 |
| Oromandibular dystonia 0.754742638231582 1.822013957017386 0.0684528679383607 1.0 0.5360794581884437 6 Q99720,Q96RL7 2 |
| Progeroid facial appearance 0.7187279658185244 1.8209435337675783 0.0686154407150176 1.0 0.5363835130747252 7 O75844,O75431,P02545 3 |
| Abnormality of the optic nerve 0.3713404051405856 1.8202384906293112 0.0687226938586265 1.0 0.5363835130747252 269 Q8TCJ2,Q7KZN9,O43676,Q9H061,P50897,Q9NZ08,Q9NPL8,P16278,Q9P0J0,Q9NZJ7,P00846,Q9BSJ2,O60313,P41440,Q96CU9,Q9GZY8,O95202,P00403,P40855,P56589,P01889,O96028,Q86SQ9,Q9H6K4,Q9H2C2,Q96L58,O76024,P61978,O75381,O43819,O96000,Q3ZCQ8,P51798,Q15067,Q15907,Q10713,Q7LGA3,Q9HC21,P51572,P06280,Q9UHX1,Q86Y39,O15460,P07602,Q15058,Q8IUX1,P37268,Q9BPX6,P07196,Q9Y6M9,Q8N2K0,Q5KU26,Q9UG56,Q15125,O95831,P78318,P04062,P21964,Q6P4Q7,Q9H9P8,P38435,Q9H490,P04439,P98175,O43505,Q9NVI7,Q5XKP0,O95721,Q04837 69 |
| Progressive visual loss 0.4947677707660697 1.8163055932956604 0.0693235077325422 1.0 0.5383584781102445 25 P50897,P00846,O75503 3 |
| Resting tremor 0.5287948009060304 1.8136951014676963 0.0697246796634054 1.0 0.5387710688134025 21 P04062,Q96RL7,Q9H6K4,P07602,Q9NZJ7,P12235 6 |
| Variable expressivity 0.3715553404779548 1.81192907674096 0.0699971559236327 1.0 0.5396261887967034 81 Q9NR77,Q9H061,P02545,Q9NZJ7,Q9NWS8,O15121,P00403,Q86SQ9,Q70HW3,Q53H12,P11166,Q6P4A7,Q13510,P07602,Q15058,P07196,Q15125,P00374,P06753,Q8WVQ1,P17900,O95470 22 |
| Redundant skin 0.4938853558971399 1.809298930918601 0.0704045750043422 1.0 0.540232964456515 25 P48651,Q9Y487,Q8NCH0,P38435,Q9BV10,O96000 6 |
| Abnormal metacarpal morphology 0.4495380510351147 1.8048722841826497 0.0710946697719563 1.0 0.5424979174804146 35 O43924,Q9NX62,P08236,Q14739,Q32P28,P16278,Q8WVQ1,Q7RTS9,P16435 9 |
| Tissue ischemia 0.5362182206680789 1.8045730225313144 0.0711415227703644 1.0 0.5424979174804146 20 P01889,P02545,P05067,Q9NZ08,Q9Y4P3,O75844,P06280 7 |
| Abnormality of the temporomandibular joint 0.9052495850570466 1.8036198017264016 0.0712909296577537 1.0 0.5425067043839995 4 O75844,Q96RL7 2 |
| Mitral valve calcification 0.904926534140024 1.802332350945394 0.0714931315854883 1.0 0.5425067043839995 4 O75844,P04062,P02545 3 |
| Cardiac valve calcification 0.904926534140024 1.802332350945394 0.0714931315854883 1.0 0.5425067043839995 4 O75844,P04062,P02545 3 |
| Abnormal visual fixation 0.6787251540137741 1.8002405992112802 0.0718226557598726 1.0 0.5432319435649002 8 P04062,Q5KU26,Q13510 3 |
| Fluctuations in consciousness 0.7136289904508339 1.7964756637441568 0.0724188997616233 1.0 0.5450783962609054 7 Q9UJS0,P04062,P00403,O43819 4 |
| Onion bulb formation 0.7133155558636242 1.7949698434370174 0.072658504786252 1.0 0.5451148565870022 7 P07196,Q9NR77 2 |
| Pericardial effusion 0.7128277980514145 1.7926261223134188 0.0730327266059129 1.0 0.5461577815746537 7 P04062,Q14108 2 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9674632882234389 1.7906242118112636 0.0733536190177752 1.0 0.5476755735024892 2 O75503 1 |
| Abnormality of the autonomic nervous system 0.3924223302779179 1.7898193556421815 0.0734829565193246 1.0 0.5477605940220608 60 Q10713,P04062,Q96RL7,P21964,P42892,O15269,P07602,Q9Y2B2,P20700,O76024,P0DP25,Q9NZJ7,O43464,P41440,P06280,Q15067 16 |
| Gastrostomy tube feeding in infancy 0.4427298364172867 1.7879099286331697 0.0737905407923675 1.0 0.548231170436829 38 Q99720,Q01105,Q9Y2B2,P37268,P35637,Q9BV10,O15121 7 |
| Abnormal ldl cholesterol concentration 0.5989619823440745 1.7843722588162223 0.0743631957297281 1.0 0.548231170436829 13 P02545,Q8N511,P37268,P50402,Q15800 5 |
| 3 methylglutaconic aciduria 0.6096948940164855 1.7836070961647088 0.074487531725379 1.0 0.548231170436829 12 Q9H6K4,Q9NVI7,Q53H12,O43464,Q5XKP0 5 |
| Recurrent aspiration pneumonia 0.6540378892125409 1.7834395542195798 0.0745147793040963 1.0 0.548231170436829 9 P78318,P04062,Q13510 3 |
| Aplasia hypoplasia of the optic nerve 0.4905199732463609 1.7825359354681714 0.074661876506431 1.0 0.548231170436829 25 Q9UHX1,P37268,P07196,P61978,Q9NVI7,O95721 6 |
| Incomplete penetrance 0.4512774200592103 1.7800626035712628 0.0750657158458538 1.0 0.548231170436829 31 Q9UBB4,P52732,P49792,O14979,Q969G3,P21912,P36551,P35222,P00846,O60313,O43707,Q8WWY3,Q6UWE0,Q9NZ71,Q92733,P11166,P03915 17 |
| Retinal detachment 0.5868097069741781 1.7798417496343468 0.0751018628958357 1.0 0.548231170436829 14 Q9BV10,P04439,Q8NCH0,O43505 4 |
| Loss of subcutaneous adipose tissue in limbs 0.8985883030826837 1.7770488727114404 0.0755601991007079 1.0 0.548231170436829 4 O75844,O75431,P02545 3 |
| Shuffling gait 0.5974699217543025 1.7755516757976562 0.0758068409869245 1.0 0.548231170436829 13 O75844,P04062 2 |
| Retinal degeneration 0.3756316749699537 1.7741211850344656 0.0760431072751171 1.0 0.548231170436829 64 Q7LGA3,P04062,O75503,P02545,Q13510,P50897,Q9H2C2,Q7Z4L5,P04439,O14773,P51648,Q9UG56,Q9NW15 13 |
| Posterior embryotoxon 0.5547264672152732 1.7734266564775498 0.0761580351790605 1.0 0.548231170436829 17 Q7LGA3,P21964,P53701,Q9Y4P3,P40855,O75381 6 |
| Type 1 muscle fiber atrophy 0.7086174778165888 1.7723746333461077 0.0763323897132342 1.0 0.548231170436829 7 Q9BTV4,P61978,P02545,P50402 4 |
| Hemivertebrae 0.5733209625735884 1.770050490221284 0.076718730118779 1.0 0.548231170436829 15 Q9Y619,Q15125,Q9UHX1 3 |
| Limb pain 0.6294485171065662 1.7668939631878413 0.07724598822007 1.0 0.548231170436829 10 P36551,P00846,O75569 3 |
| Bilateral cryptorchidism 0.6288002821685418 1.7633390903128818 0.0778433160950309 1.0 0.548231170436829 10 O43924,P78318,Q15233,P37268 4 |
| Proximal tubulopathy 0.4790064678505169 1.7615505731900505 0.0781452611815423 1.0 0.548231170436829 26 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,P00403,O96000 7 |
| Aspiration pneumonia 0.4501713501337637 1.7592690361691294 0.0785318232279634 1.0 0.548231170436829 29 P78318,P04062,Q13510,P20700,P16278,P06753,Q6NUK1,O95721 8 |
| Arthralgia 0.4456464544076259 1.7562537957676838 0.0790450827880899 1.0 0.548231170436829 34 Q03252,P01889,P02545,Q13510,O15460,Q9NZ08,P28070,Q9Y4P3,Q96HY6,Q15800,P06280 11 |
| Upper airway obstruction 0.8931143762604435 1.75517732595272 0.0792289810093085 1.0 0.548231170436829 4 O75844,P02545,P16435 3 |
| Asymmetric septal hypertrophy 0.9588252231500156 1.755168748141582 0.0792304477918008 1.0 0.548231170436829 2 P54802 1 |
| Heparan sulfate excretion in urine 0.8926613875349648 1.7533659110554265 0.079539218469768 1.0 0.548231170436829 4 P15586,P54802 2 |
| Abnormal lower limb bone morphology 0.3654431823809083 1.748866955317237 0.0803140197620611 1.0 0.5493053133652603 189 O43924,Q9NX62,P08236,P02545,P16278,Q9NZJ7,P13073,O95202,Q13555,P04066,Q9Y487,Q03164,O96028,Q96L58,Q9Y2B2,Q7Z4L5,Q96A33,Q7RTS9,O75844,P51798,Q7LGA3,Q13510,Q9UHX1,P07602,O75431,Q9BV10,Q9Y619,Q15392,Q15125,O75845,O95831,P04062,Q03252,Q14739,P21964,Q32P28,O43505,P00813,Q8WVQ1,Q96HY6,P16435,O75718 42 |
| Hypoplasia of the odontoid process 0.7374718694192925 1.7431919223577186 0.0813000959742824 1.0 0.5525550493319276 6 P08236,P16278,O95831 3 |
| Muscle fiber atrophy 0.5189916373694938 1.7427111842351446 0.0813840770333846 1.0 0.5525550493319276 21 Q96RL7,P02545,Q99720,Q9BTV4,P22626,P06753,P50402,P61978,P35637,P23786 10 |
| Abnormality of lipoprotein cholesterol concentration 0.5802185395843111 1.7396924056480982 0.0819130435639865 1.0 0.5541971473711133 14 P02545,Q8N511,P37268,P50402,Q15800 5 |
| Macular purpura 0.5493779808715653 1.738087869982895 0.0821953319227473 1.0 0.5541971473711133 17 P04062,P51798,Q8NCH0 3 |
| Areflexia 0.361930437540847 1.7377516851668562 0.0822545772633143 1.0 0.5541971473711133 88 Q9NR77,P02545,Q9NWS8,O60313,P41440,P56589,Q96RL7,Q9H6K4,Q13217,P61978,Q15041,P12235,O43819,Q15067,Q13510,P07196,P05023,Q9BQT8,O95831,P39210,Q9BT22,O15269,O43505,O95721 24 |
| Heterogeneous 0.424532698261487 1.735221790374077 0.0827015283158993 1.0 0.5541971473711133 46 Q9NR77,P21964,P02545,Q9BQE5,P05067,P07196,P00846,O75844,P51798,Q9Y619 10 |
| Aplasia hypoplasia affecting the fundus 0.4755231879185421 1.733029954037403 0.0830903449131854 1.0 0.5541971473711133 26 Q9UHX1,P37268,P07196,P61978,Q9NVI7,O95721 6 |
| Abnormal pharynx morphology 0.4350077427490469 1.7318908769573338 0.0832929933915866 1.0 0.5541971473711133 39 P08236,P01889,Q13510,P16278,P54802,P15586,P00813,Q7RTS9,Q9BV10 9 |
| Metatarsus adductus 0.5670193148971789 1.7304903252616377 0.083542708291864 1.0 0.5541971473711133 15 Q03252,P08236,O96028,Q15392,O95202 5 |
| Focal segmental glomerulosclerosis 0.5075253152324436 1.7238417673814737 0.0847364121928264 1.0 0.5574218114067978 22 P03915,Q92621,Q8NFH4,P61619,Q12769,Q14108,O75431,Q8N1F7,O95470,P00403,P57740 11 |
| Talipes calcaneovalgus 0.7332436157261439 1.72381326719159 0.0847415587539188 1.0 0.5574218114067978 6 Q9NR77 1 |
| Abnormal endocrine physiology 0.7792552279522675 1.7219220403570568 0.0850836417823353 1.0 0.5588803853425249 5 Q13423,P16435 2 |
| Abnormality of the shoulder girdle musculature 0.4437184701279226 1.7190775775043583 0.0856002470289478 1.0 0.558944171449015 32 Q9Y5S9,Q9Y487,P02545,Q9BTV4,P07602,Q14999,O14979,P06753,Q9NZJ7,P07196,P50402,O60313,Q96RR1,P43243,P12235 15 |
| Paroxysmal involuntary eye movements 0.5068176925484479 1.7185565763688575 0.0856951442876181 1.0 0.558944171449015 22 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,P11166,O96000 7 |
| Abnormal femoral neck morphology 0.4290420806317923 1.7152487376831775 0.0862996326743723 1.0 0.5613102158820521 41 Q9Y487,P02545,P16278,Q96A33,O75431,Q8WVQ1,Q7RTS9,Q96HY6,O75844,O75718,Q9Y619,O95831,P04066 13 |
| Gait ataxia 0.3675192498206454 1.7140501860780069 0.0865195092757131 1.0 0.561953288218758 75 Q15907,Q9NR77,Q03252,Q8IV08,Q9NW15,P07602,O15118,Q9NZJ7,P07196,O14773,P00846,Q9NVI7,P41440,P12235,Q14108 15 |
| Secondary microcephaly 0.364960106877276 1.7117003009179848 0.0869519131433447 1.0 0.5631864499828352 80 Q9HC07,Q9Y487,P55795,Q9BT22,Q86Y39,Q9UHX1,P50897,P00374,P11166,O95721,O43464,Q9BV10,Q5KU26,Q5XKP0,Q96CU9,Q9GZY8,O15121,Q9HC21 18 |
| Proximal muscle weakness 0.3705594365068734 1.7101682809972856 0.0872347592947277 1.0 0.5635980588254719 65 P02545,Q13510,Q99720,Q9BTV4,P22626,P13473,P21912,Q9BPX6,P07196,P35637,P00846,O60313,P50402,P12235,Q9BQT8 15 |
| Aplasia hypoplasia of the femur 0.5516407519333424 1.7100415848333317 0.0872581835261658 1.0 0.5635980588254719 16 Q9UHX1,O75431,Q8WVQ1,Q9BV10,Q96HY6,O95831 6 |
| Gingival bleeding 0.5964090635500132 1.7069085117021798 0.0878390585159434 1.0 0.5647649708432885 12 Q14108 1 |
| Insidious onset 0.729532573949546 1.7067794800518752 0.0878630478222626 1.0 0.5647649708432885 6 P04062,Q9NR77 2 |
| Hyperactive deep tendon reflexes 0.6183671760951706 1.705963954203934 0.0880147910193509 1.0 0.5647649708432885 10 Q9NR77,P11166 2 |
| Abnormal clavicle morphology 0.4893010983769873 1.705791492853464 0.088046907599169 1.0 0.5647649708432885 24 P48651,Q14739,P02545,Q9Y2B2,Q7Z4L5,O75844,Q9Y619 7 |
| Joint contracture of the hand 0.4214629005404346 1.7030208465910723 0.0885641672325476 1.0 0.5654055427287359 46 Q9NR77,P42892,P02545,Q9Y2B2,Q8IZA0,P07196,P16435,O75844,Q15392,Q9Y619 10 |
| Abnormal speech prosody 0.6387973349754861 1.7028090394422506 0.0886038106605715 1.0 0.5654055427287359 9 P00846 1 |
| Abnormality of salivation 0.4195605897847358 1.7007208441409565 0.0889954191201467 1.0 0.5654055427287359 47 Q9NR77,Q96RL7,P01889,Q14739,P15586,P35637,Q92804,Q15165,P55795 9 |
| Saccadic oscillation 0.9455801900374332 1.7007016740814465 0.0889990206147084 1.0 0.5654055427287359 2 P04062 1 |
| Opsoclonus 0.9455801900374332 1.7007016740814465 0.0889990206147084 1.0 0.5654055427287359 2 P04062 1 |
| Peroneal muscle atrophy 0.8793186187867679 1.6999138845717 0.0891471248559572 1.0 0.5655727429386138 4 Q9NR77,Q96RL7 2 |
| Mild short stature 0.8786049357189311 1.697049681783417 0.0896872681368095 1.0 0.566455925812038 4 Q14739,Q13555 2 |
| Progressive sensorineural hearing impairment 0.6057739276371533 1.6962562773479477 0.0898373567881742 1.0 0.566455925812038 11 O60313,P00403 2 |
| Low frustration tolerance 0.6373445966016025 1.695092918910895 0.0900577953196399 1.0 0.566455925812038 9 P04062,Q9UHX1 2 |
| Bruising susceptibility 0.4418232341062383 1.6946588000105616 0.0901401656277123 1.0 0.566455925812038 31 P04062,Q8NCH0,Q9NWM8,Q14108,P51798 5 |
| Short middle phalanx of finger 0.771788574922797 1.6893065703587995 0.0911606949118586 1.0 0.5667565849015207 5 Q9UHX1 1 |
| Acanthocytosis 0.8764391614169083 1.6883547494079476 0.0913431512969493 1.0 0.5667565849015207 4 Q96RL7 1 |
| Rigidity 0.3768609375979915 1.6870554429413127 0.0915926916020002 1.0 0.5667565849015207 62 P04062,Q15392,Q86SQ9,Q9H6K4,Q9H2C2,P07602,P49792,P16278,Q9NZJ7,Q9BPX6,P00846,O43464,Q96CU9,P12235 14 |
| Decreased circulating level of specific antibody 0.656475686132159 1.6867669144204926 0.0916481796658268 1.0 0.5667565849015207 8 P00813,Q9BV10 2 |
| Progressive spastic quadriplegia 0.635760379630409 1.686672563099235 0.0916663306028315 1.0 0.5667565849015207 9 P17900,P07602 2 |
| Skeletal muscle hypertrophy 0.4240684070933641 1.686436062942624 0.091711840271264 1.0 0.5667565849015207 43 Q9NR77,Q7LGA3,Q10713,P02545,P16278,Q96A33,P21912,P53007,O75648,P61978,Q9Y4P3,O00754,P04066 13 |
| Sepsis 0.4945901832409367 1.6845392445800385 0.0920775016912935 1.0 0.5667565849015207 23 P00813,P42892,P01889,Q9BT22 4 |
| Hypertriglyceridemia 0.4945612238501898 1.6843173823867448 0.0921203478380796 1.0 0.5667565849015207 23 P02545,O75431,P50402,P28070,O95470 5 |
| Adipose tissue loss 0.6352871381070586 1.6841560242375626 0.0921515194696425 1.0 0.5667565849015207 9 O75844,O75431,P02545 3 |
| Epistaxis 0.5710471109683687 1.6835808621548447 0.0922626998676894 1.0 0.5667565849015207 14 P04062,P01889,O15460,P38435,P49257,Q6UN15 6 |
| Thoracic scoliosis 0.592038625939971 1.6815617951620956 0.092653844196505 1.0 0.567328502524957 12 O75844,P06753,P02545,Q9UHX1 4 |
| Dysesthesia 0.7240034932023127 1.681357278995464 0.0926935382976115 1.0 0.567328502524957 6 Q9NR77 1 |
| Abnormal csf metabolite level 0.368142015829071 1.681209164635054 0.0927222940173218 1.0 0.567328502524957 66 Q7KZN9,O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9P0J0,Q9Y6M9,P00846,O43464,P13073,P11166,P00403,O96000,O95831,Q9HC21 15 |
| Abnormal femoral neck head morphology 0.4135569469889965 1.6765860186290091 0.0936234626587062 1.0 0.5698187073892115 49 Q7LGA3,Q9Y487,P02545,Q14739,P16278,Q96A33,O75431,Q8WVQ1,Q7RTS9,Q96HY6,O75844,O75718,Q9Y619,O95831,P04066 15 |
| Waddling gait 0.4684023142005754 1.674508416333338 0.0940307217206299 1.0 0.5700765948702423 26 O75340,P02545,Q13510,P22626,Q9BTV4,Q9NUQ7,P06753,P53007,O75190,P50402,P07196,Q8WVQ1,Q7RTS9,Q4J6C6 14 |
| Hypolipoproteinemia 0.6873664229754936 1.6696124034526143 0.0949960747701479 1.0 0.5744293896257382 7 Q15800,P37268 2 |
| Anteriorly placed anus 0.6008514323568674 1.6683889976381114 0.0952385309491825 1.0 0.574623386453571 11 P48651,Q9Y2B2,P16435 3 |
| Aplasia hypoplasia of the clavicles 0.5897389458307474 1.6682020399457618 0.0952756260915697 1.0 0.574623386453571 12 P48651,P02545,Q9Y2B2,O75844,Q9Y619 5 |
| Confusion 0.5243769926772275 1.6657071690144014 0.0957717533969673 1.0 0.5768664368035229 19 P01889,P05067,Q9NZ08,P36551,O96008,O00754,P11166,Q9Y619 8 |
| Inverted nipples 0.6863865549293188 1.6648528786234096 0.0959421112248288 1.0 0.5771439955027271 7 P56589,Q9BV10,Q15067 3 |
| Functional abnormality of the inner ear 0.3637305708512167 1.6628928323019474 0.0963338894298766 1.0 0.5777855708567012 259 Q9NR77,O43676,Q9H061,P02545,Q9NPL8,Q9NZ08,P0DP25,Q9NZJ7,P00846,O60313,O43464,P41440,Q96CU9,O95202,P00403,P40855,P01889,O00584,O96028,Q96L58,O76024,P21912,P35637,Q9NR28,O75844,P12235,Q9NWM8,O75381,O96000,P51572,Q15067,P06280,Q7LGA3,Q13510,Q86Y39,Q15904,P07602,Q8IUX1,P20700,P07196,Q9Y6M9,Q8N2K0,Q9Y4P3,Q9BV10,Q16740,Q9UG56,Q15125,O95831,P55263,P42167,P04062,P42892,P48651,P78318,P38159,O95721,Q5XKP0,O95470 58 |
| Tetraparesis 0.4236869288618947 1.6615169777188563 0.0966096620111871 1.0 0.5777855708567012 41 Q9UBX3,Q9NZB8,Q9H9P8,P07602,P21912,Q9NZJ7,P35637,P00846,Q7RTS9,P17900 10 |
| Hypoketotic hypoglycemia 0.651495146804152 1.6612121728885112 0.096670841635585 1.0 0.5777855708567012 8 P23786,O43772 2 |
| Foot acroosteolysis 0.7645373681132543 1.6575575652066803 0.0974068007605388 1.0 0.5782379167907976 5 O75844,P02545 2 |
| Osteolysis involving bones of the feet 0.7645373681132543 1.6575575652066803 0.0974068007605388 1.0 0.5782379167907976 5 O75844,P02545 2 |
| Negativism 0.934350705441985 1.6544380516647286 0.0980385403932204 1.0 0.5782379167907976 2 Q9BQE5 1 |
| Social and occupational deterioration 0.934350705441985 1.6544380516647286 0.0980385403932204 1.0 0.5782379167907976 2 Q9BQE5 1 |
| Thickened ribs 0.8679321228363102 1.6541575682027254 0.0980955017334026 1.0 0.5782379167907976 4 P16278,P54802 2 |
| Enlarged thorax 0.5298661721239719 1.653499255851687 0.0982292974303431 1.0 0.5782379167907976 18 P08236,Q14739,P02545,Q7RTS9,O75844,P04066 6 |
| Capillary hemangioma 0.7178999369908203 1.6532345018409176 0.0982831472345675 1.0 0.5782379167907976 6 Q7LGA3,Q9UHX1 2 |
| Abnormal circulating sulfur amino acid concentration 0.6294494294234174 1.653068601213768 0.0983169027086992 1.0 0.5782379167907976 9 P55263,Q9UJS0,O14678,P41440,Q6PGP7 5 |
| Abnormal macular morphology 0.456910526573753 1.6528600678196856 0.0983593457213261 1.0 0.5782379167907976 27 P04062,Q13510,Q86SQ9,P50897,P04439,P51648,Q9NW15 7 |
| Dental crowding 0.4741420453326262 1.6513923761981908 0.0986584805476362 1.0 0.5782379167907976 25 Q15233,P02545,Q01105,O75431,Q96A33,P06753,P36543,O75844,Q92643 9 |
| Postaxial foot polydactyly 0.5866715232766366 1.650358265808997 0.0988696816708849 1.0 0.5782379167907976 12 O43924,O75845,Q14739 3 |
| Abnormality of the 5th toe 0.5866715232766366 1.650358265808997 0.0988696816708849 1.0 0.5782379167907976 12 O43924,O75845,Q14739 3 |
| Abnormality of circulating leptin level 0.8668551533603351 1.6498234237485965 0.0989790564427626 1.0 0.5782379167907976 4 O75844 1 |
| Tachycardia 0.473582002792544 1.6468823073393692 0.0995822391819238 1.0 0.5792777542781883 25 P42892,P02545,O43772,Q9BTV4,P21912,P0DP25,P36551 7 |
| Symptomatic seizures 0.6485276998074584 1.6459607725658625 0.0997718355201422 1.0 0.5792777542781883 8 Q13423 1 |
| Paraparesis 0.4366459565293096 1.642447340864468 0.100497330799067 1.0 0.5819321748514559 30 Q6DKK2,P04062,Q5XKP0,Q13510,Q9H6K4,P35637,Q9Y619 7 |
| Atrophic scars 0.647581807289067 1.6410953178731118 0.1007776305275256 1.0 0.5828285381940587 8 Q96L58,Q9NWM8,Q8NCH0 3 |
| Postaxial polydactyly 0.4721608318584144 1.6354301275490066 0.1019589110224119 1.0 0.5866888443847911 25 O43924,Q14739,Q9UM00,Q7Z4L5,P98175,P61978,Q15125,O75845 8 |
| Limb girdle muscular dystrophy 0.6461688077762877 1.6338236237163126 0.1022958904491317 1.0 0.5866888443847911 8 O14979,P02545,P50402 3 |
| Humeroradial synostosis 0.9291678663979268 1.6330628339334576 0.102455782255828 1.0 0.5866888443847911 2 P48651 1 |
| Elbow ankylosis 0.9291678663979268 1.6330628339334576 0.102455782255828 1.0 0.5866888443847911 2 P48651 1 |
| Progressive 0.3381075298199793 1.6318951973988758 0.1027015659365588 1.0 0.5873720101100732 116 P02545,P15586,O60313,Q9GZY8,O15121,P27544,Q96RL7,Q99720,Q9NR28,P12235,Q13510,O75569,Q9NZB8,P20700,P54802,Q9Y6M9,O95831,P39210,P55263,P04062,Q03252,Q5XKP0,O95470,Q96D71 24 |
| Generalized clonic seizure 0.7127954677228292 1.6296686964054323 0.103171536791446 1.0 0.5874584515349809 6 P07602 1 |
| Abnormality of temperature regulation 0.336321534410447 1.6293370942360836 0.1032416776003475 1.0 0.5874584515349809 112 Q9NR77,Q8NFH4,Q9NZ08,Q9NZJ7,P00846,P00403,P01889,P61978,P28070,P51572,P51798,Q9HC21,P06280,P35610,Q13510,O43772,P07602,P20700,Q9HC07,Q14739,P49792,P00813,Q8N1F7,P23786,Q5XKP0 25 |
| Coxa vara 0.5505921793539298 1.6267040529637842 0.1037999675578249 1.0 0.5874584515349809 15 Q9Y487,Q8WVQ1,Q7RTS9,O75718,O95831 5 |
| Back pain 0.4868469880585805 1.6250714229267302 0.1041473411637301 1.0 0.5874584515349809 23 P04637,P01889,P02545,Q9BTV4,Q8WVX9,Q969G3,P50402,P36551,Q5HYI8,Q9UGP8,P51798 11 |
| Abnormality of the elbow 0.3791188643497274 1.624308166081046 0.1043100552882401 1.0 0.5874584515349809 60 Q7LGA3,P48651,P02545,Q03164,Q13510,Q9H6K4,Q9BTV4,P37268,P50402,Q8WVQ1,Q7RTS9,P16435,Q9Y619 13 |
| Ovoid vertebral bodies 0.6440695449458518 1.6230124348875428 0.1045867466919472 1.0 0.5874584515349809 8 P15586,P16278,P54802 3 |
| Pericarditis 0.7111017799014514 1.621840312424605 0.1048375443641094 1.0 0.5874584515349809 6 O15460,Q9NZ08,P01889 3 |
| Abnormal renal cortex morphology 0.3969789895342648 1.6205403279242634 0.1051162586955027 1.0 0.5874584515349809 54 Q03252,P01889,P02545,Q9NZ08,Q14108,O75431,P21912,P00846,P00813,Q8N1F7,Q6PGP7,O95470,P00403,P06280 14 |
| Muscle hypertrophy of the lower extremities 0.7106290891241691 1.6196546898105744 0.1053064744825351 1.0 0.5874584515349809 6 Q9NR77 1 |
| Myoclonic spasms 0.677064531371834 1.6194834953199702 0.1053432748160736 1.0 0.5874584515349809 7 Q9NZB8,Q10713,P00846 3 |
| Abnormal sweat gland morphology 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Epidermal hyperkeratosis 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Aplasia hypoplasia of the colon 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Abnormal shoulder physiology 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Severe failure to thrive 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Stiff skin 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Prominent umbilicus 0.9248488338612189 1.6152404469016768 0.1062586346445675 1.0 0.5874584515349809 2 O75844 1 |
| Sclerosis of hand bone 0.924848833861218 1.6152404469016728 0.1062586346445684 1.0 0.5874584515349809 2 Q15125 1 |
| Second degree atrioventricular block 0.924848833861217 1.6152404469016697 0.106258634644569 1.0 0.5874584515349809 2 P0DP25 1 |
| Sinus bradycardia 0.924848833861217 1.6152404469016697 0.106258634644569 1.0 0.5874584515349809 2 P0DP25 1 |
| Breast aplasia 0.9248488338612156 1.6152404469016646 0.1062586346445702 1.0 0.5874584515349809 2 Q9Y619 1 |
| Abnormal morphology of the conjunctival vasculature 0.6750807032127089 1.6098079500166358 0.1074397891204212 1.0 0.5896662243246216 7 Q9NW15,P10619,P04066 3 |
| Abnormality of the upper arm 0.5007666367616322 1.6095606581978608 0.1074938027256633 1.0 0.5896662243246216 21 P48651,P02545,P50402,Q7RTS9,Q9BV10,P16435,O14979 7 |
| Choreoathetosis 0.4269888434031234 1.6053025311775333 0.1084272424152301 1.0 0.591360033214515 36 Q96RL7,Q9H6K4,Q86VD7,Q9P0J0,P00846,P11166 6 |
| Hyperesthesia 0.9222574143391916 1.604543122837688 0.1085943870768648 1.0 0.591360033214515 2 P07602 1 |
| Pseudoarthrosis 0.8554473281552895 1.6038501545116153 0.1087470862112824 1.0 0.591360033214515 4 O75844 1 |
| Abnormal placental size 0.854957853872858 1.601875069847331 0.1091832383698707 1.0 0.5922488126323114 4 O75844,P02545 2 |
| Poikilocytosis 0.5575203103585549 1.600321842507621 0.1095272037011811 1.0 0.5928255640889107 14 P11166,Q96RL7,O75845 3 |
| Hypokinesia 0.5777145614550159 1.5981009898137448 0.1100205033952665 1.0 0.594026859755509 12 P04062,P13473,P06753,Q99567,P12235,O95831 6 |
| Mitral stenosis 0.8539706039244148 1.5978907974304457 0.1100672824911739 1.0 0.594026859755509 4 O75844,P04062 2 |
| Hypermetric saccades 0.8533419884871409 1.595353456915641 0.1106332177706852 1.0 0.5950251877141145 4 O14773 1 |
| Elevated serum acid phosphatase 0.8533236464497822 1.5952794163232902 0.1106497664263419 1.0 0.5950251877141145 4 P07602,P51798 2 |
| Calcinosis 0.7501759984653853 1.59447141475656 0.1108304882370174 1.0 0.5950251877141145 5 O75844,Q14739 2 |
| Abnormal nerve conduction velocity 0.4135567647283349 1.5906681140176473 0.1116842864917957 1.0 0.5980399766994763 44 Q9NR77,P02545,Q99720,P07602,Q9NZJ7,P07196,Q8N2K0,Q9Y619,Q9GZY8,O15121,O95831 11 |
| Abnormal acetabulum morphology 0.4821871342905508 1.5891454759524446 0.1120275528379619 1.0 0.5980399766994763 23 Q9Y584,P08236,P16278,Q8WVQ1,Q7RTS9,O75718 6 |
| Generalized onset motor seizure 0.3916033309027246 1.5891084386664591 0.1120359129475763 1.0 0.5980399766994763 55 P04062,Q13510,P07602,Q01105,P16278,Q9Y320,Q9NZJ7,P21912,P00846,Q9Y619,P11166,Q96N66 12 |
| Ventricular preexcitation 0.637015161678 1.5866154516860804 0.1125997656908257 1.0 0.5986724798964785 8 P00846,P00403 2 |
| Abnormal atrioventricular valve morphology 0.4235788428222371 1.5865230927725542 0.1126206979158992 1.0 0.5986724798964785 37 Q15233,P04062,P21964,P02545,Q96L58,P06753,O75431,P53701,Q9Y4P3,O75844,P55795 11 |
| Hand polydactyly 0.41622642026455 1.5863053574751045 0.1126700575860297 1.0 0.5986724798964785 41 O43924,Q14739,P21964,O96028,Q9UHX1,Q9UM00,Q7Z4L5,P98175,O95202,Q15125,O75845,Q15067 12 |
| Cogwheel rigidity 0.669698257751099 1.5835216008727495 0.1133026272515356 1.0 0.6006791735594105 7 P12235,P00846,Q96RR1 3 |
| Cachexia 0.5124569032843403 1.5823897248925591 0.1135606289342459 1.0 0.6006791735594105 19 P04062,P02545,Q99720,P07602,Q9NZJ7,P35637 6 |
| Abnormal macrophage morphology 0.7020865733444818 1.5800968895716594 0.1140846795317362 1.0 0.6006791735594105 6 P16278,Q13510 2 |
| Infectious encephalitis 0.5956298573262764 1.5799170997748453 0.1141258526663331 1.0 0.6006791735594105 10 Q9NZ08,P01889,Q14739 3 |
| Hip osteoarthritis 0.9159228332853456 1.5783830552507072 0.1144776355988992 1.0 0.6006791735594105 2 P51798 1 |
| Death in infancy 0.3604518475560911 1.5782559560597165 0.1145068198795495 1.0 0.6006791735594105 66 P56589,Q15067,P04062,P02545,Q9BT22,Q15904,P07602,P16278,Q9NZJ7,Q9NWS8,O43464,O75381,O75718,P40855,Q9HC21 15 |
| Abnormal motor nerve conduction velocity 0.4960976723343989 1.5752134753310347 0.1152071778071435 1.0 0.6025024028562777 21 Q99720,Q9NR77,O15121,P07196 4 |
| Decreased circulating iga level 0.5843772270011204 1.5746454033756112 0.1153383164873225 1.0 0.6025097207729199 11 Q15904,P00813 2 |
| Pathologic fracture 0.5306432413678617 1.572834000134134 0.1157572606384715 1.0 0.6033408736308216 16 P04062,P22626,O15269,Q96L58,Q13126,Q14108,O75845 7 |
| Dermal atrophy 0.4287282870800583 1.5707875647961194 0.1162320014689508 1.0 0.6051361152710849 30 Q8NCH0,P02545,P53701,O75844,Q15392,Q9NWM8 6 |
| Abnormal intraocular pressure 0.6665665637559275 1.568204228080864 0.1168334779971842 1.0 0.6075864186102168 7 O75533,P04439,Q8NCH0,P29992 4 |
| Sound sensitivity 0.6326870163839573 1.5642346669807143 0.1177624687045257 1.0 0.6111520093819142 8 P17900,Q9GZY8 2 |
| Abnormality of the nasal tip 0.337372778631045 1.5627632578770023 0.11810828927894 1.0 0.6111520093819142 104 O43924,Q7LGA3,P42892,Q9Y487,P21964,Q9UHX1,P38159,P02545,Q03164,Q9Y2B2,P16278,Q96A33,O75431,P16435,O75844,O75845,O95831 17 |
| Abnormal elasticity of skin 0.3592658445272458 1.5623192059689877 0.1182128097109596 1.0 0.6111520093819142 66 P04062,P48651,Q9Y487,P02545,Q9UHX1,Q15904,Q8NCH0,Q96L58,P38435,Q9BV10,O75844,Q9NWM8,O96000 13 |
| Hyperactive patellar reflex 0.6652885788949979 1.5619487278104294 0.1183000679408543 1.0 0.6111520093819142 7 Q15041,P13073,P21912 3 |
| Atlantoaxial instability 0.911603800748634 1.5605386938329169 0.1186326334580081 1.0 0.6111520093819142 2 Q9NWM8 1 |
| Abnormality of the glenoid fossa 0.9116038007486336 1.5605386938329149 0.1186326334580085 1.0 0.6111520093819142 2 Q9Y619 1 |
| Abnormality of facial adipose tissue 0.8447149503636028 1.5604994273126842 0.1186419051977052 1.0 0.6111520093819142 4 O75844,P02545 2 |
| Dilated cardiomyopathy 0.4117718714991422 1.5602385764312436 0.1187035125888213 1.0 0.6111520093819142 43 P42167,Q96RL7,P02545,O95155,P03915,Q9BTV4,P13473,P06753,P16278,P42166,P53701,P00846,Q96RR1,P23786,P12235,P00403,O43819 17 |
| Abnormal glycosylation 0.4939151474386594 1.5591262676144708 0.1189664976533249 1.0 0.6118277022170995 21 Q8TCJ2,Q9Y487,Q9BT22,Q15904,P46977,Q8N511,Q9H0U3,P51571 8 |
| Abnormal circulating long chain fatty acid concentration 0.8438490348602721 1.5569978789848749 0.1194709889887959 1.0 0.6137425584778411 4 O75381,P40855,P23786 3 |
| Stillbirth 0.5809579650923324 1.5550998991905358 0.1199222789766298 1.0 0.614700953164977 11 O75844,P04062,Q14739,P16435 4 |
| Cardiac arrest 0.4256631237538725 1.553202082456154 0.1203748639925166 1.0 0.6158727253620305 32 P04062,P50416,P01889,P02545,O43772,Q9BTV4,P0DP25,P50402,Q9Y4P3 9 |
| Retinopathy 0.4271041456210716 1.5530293863880085 0.1204161142611377 1.0 0.6158727253620305 29 P01889,Q9NZ08,P00846,P51648,O95202 5 |
| Fetal distress 0.4449865824558249 1.5514825130852707 0.1207860948233412 1.0 0.6170853953350899 27 O43676,Q86Y39,Q9NPL8,Q8IUX1,Q9Y6M9,Q9NVI7,O96000 7 |
| Toxemia of pregnancy 0.7377548428047142 1.5397038062382993 0.1236325686236994 1.0 0.6254353471551853 5 Q14739,O43772 2 |
| Adult onset 0.3551231606235832 1.537288116601745 0.1242227702141025 1.0 0.6277372631929187 74 P02545,Q8IV08,P43304,Q969G3,Q9NZJ7,P41440,P43243,Q9UGP8,Q9BTV4,O76024,P21912,Q14566,Q9H0U3,P12235,Q86U42,P07602,P20700,P36551,Q96RR1,P17096,O14979,Q14203,P31483,P04062,Q9Y4G8,P38435,O15118,Q9NQZ5,Q9Y6M1,Q9NZ71 30 |
| Sensory ataxia 0.7368736193863078 1.535811605441176 0.1245845925451871 1.0 0.6288813562824448 5 Q9NR77 1 |
| Progressive spasticity 0.517973422248032 1.52838018666845 0.1264181712299943 1.0 0.6344412767201216 17 P17900,P07602,O15121,Q9NZJ7 4 |
| Abnormality of humoral immunity 0.3680585770181217 1.5280509575567351 0.126499886520002 1.0 0.6344412767201216 61 Q6PGP7,P04062,Q03252,P02545,Q15904,P09601,Q9NZ71,Q13724,P28070,P00813,Q9H0U3,Q9BV10,P14174,O00754,P78536,Q14108 16 |
| Hyperextensible skin 0.5176872219938704 1.5264527147369955 0.1268971579583009 1.0 0.6344412767201216 17 P04062,Q8NCH0,Q9UHX1 3 |
| Episodic vomiting 0.5654816999687036 1.5263787029306155 0.1269155783964239 1.0 0.6344412767201216 12 P22695,P36551,P61978,P00846,Q9Y619,P00403 6 |
| Bone pain 0.473902370410549 1.52502699045789 0.127252365747716 1.0 0.6352719713296598 23 P04062,P07602,Q14108,P51798 4 |
| Increased intracranial pressure 0.4810642404127259 1.524614248516934 0.1273553413669064 1.0 0.6352719713296598 22 P07602,Q9NZ08,P01889,Q9NZJ7 4 |
| Very long chain fatty acid accumulation 0.7337582263587425 1.522044730751625 0.127997873073262 1.0 0.6370912571142565 5 P40855,O75381 2 |
| Clonic seizure 0.6570294102312306 1.5214569018572477 0.1281452188139136 1.0 0.6370912571142565 7 P07602 1 |
| Xerostomia 0.5168670812455021 1.5209277898020286 0.1282779592775085 1.0 0.6370912571142565 17 Q92804,Q15165,Q14739 3 |
| Aplasia hypoplasia of the phalanges of the hand 0.3772052604625259 1.5204178549410985 0.1284059898059741 1.0 0.6370912571142565 58 P48651,Q14739,P02545,Q03164,Q9UHX1,P38435,Q9Y2B2,Q7RTS9,P16435,O75844,P51798 11 |
| Bradycardia 0.5546948779615527 1.5197323853347382 0.12857824871804 1.0 0.63726508756305 13 P02545,O43772,Q9BTV4,P0DP25,O75880,P51970,O43464 7 |
| Mitochondrial inheritance 0.7329610496210857 1.5185203521171842 0.1288832728329616 1.0 0.637667982537944 5 P00846 1 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6238292717623228 1.5183183685679449 0.1289341592599331 1.0 0.637667982537944 8 P00846,P05067 2 |
| Abnormal circulating acetylcarnitine concentration 0.6558922607385607 1.5158733107479163 0.1295513901254164 1.0 0.6391816056191778 7 P23786,O43772 2 |
| Intellectual disability progressive 0.543803104069415 1.5153164599524918 0.1296922819040331 1.0 0.6391816056191778 14 Q9H9P8,P53701,O95831,Q15067 4 |
| Impaired temperature sensation 0.7320004556578268 1.514272606243113 0.1299567133676307 1.0 0.6391816056191778 5 Q9NR77 1 |
| Diaphyseal thickening 0.8332311177664882 1.5140181328733098 0.1300212405614123 1.0 0.6391816056191778 4 P48651,Q14739 2 |
| Pectus excavatum 0.3493886989442013 1.5126209659720198 0.1303759654567338 1.0 0.6400274667876024 83 P02545,Q9Y487,Q03164,Q9BTV4,Q96L58,Q9Y2B2,Q96A33,P21912,P61978,Q7LGA3,Q9UHX1,Q14999,O75431,Q9Y4P3,P78318,P04062,Q8NCH0,Q9H490,P98175,P50402,O75718 21 |
| Eeg with spike wave complexes 0.5212507555805257 1.510962947075069 0.1307978915092869 1.0 0.6405854068254271 16 Q9NQZ5,Q14108,Q9Y2B2,O75503 4 |
| Osteolytic defects of the distal phalanges of the hand 0.8320843428393532 1.509371600493289 0.1312038463926259 1.0 0.6405854068254271 4 O75844,P02545 2 |
| Mediastinal lymphadenopathy 0.8320368769806948 1.509179258980757 0.1312529791019665 1.0 0.6405854068254271 4 Q01844,P01889,Q9H0U3 3 |
| Absent epiphyses 0.6541701253375666 1.507413523150309 0.1317046946191511 1.0 0.6411285134290753 7 Q7LGA3,Q7RTS9 2 |
| Epispadias 0.8311829128119347 1.5057185753984497 0.1321394334071697 1.0 0.6425712342857551 4 Q9Y619,P48651 2 |
| Ventricular escape rhythm 0.7296203552903151 1.5037436864862497 0.1326473759788693 1.0 0.6430980007516837 5 P02545,P50402 2 |
| Abnormal muscle fiber protein expression 0.7296203552903151 1.5037436864862497 0.1326473759788693 1.0 0.6430980007516837 5 P02545,P50402 2 |
| Temporal pattern 0.6013835016893996 1.502524367030625 0.1329617397848497 1.0 0.6435543108635005 9 P04062,Q9NR77 2 |
| Exaggerated startle response 0.5816633145606789 1.501856546254202 0.1331341610029461 1.0 0.6435543108635005 10 P17900,P16278 2 |
| Ecchymosis 0.5414832010371419 1.500886258767246 0.1333849828860867 1.0 0.6435543108635005 14 P04062,Q8NCH0 2 |
| Lower limb spasticity 0.3457150981272438 1.5006341417310616 0.1334502156247956 1.0 0.6435543108635005 88 Q6DKK2,P04062,Q7KZN9,Q5XKP0,Q99720,Q9H6K4,P07602,Q9P0J0,Q9NZJ7,P21912,P35637,P00846,O60313,Q9Y619,Q96CU9,P11166,O95831 17 |
| Optic nerve hypoplasia 0.4934710398080736 1.499377779883295 0.133775654673331 1.0 0.6443995023483199 20 Q9UHX1,P37268,P07196,P61978,Q9NVI7 5 |
| Headache 0.3532849035623889 1.4983522443895945 0.1340417569484231 1.0 0.6443995023483199 71 Q92621,Q8NFH4,Q9NZ08,Q02978,Q969G3,O60313,P00846,P00387,P00403,P01889,P05067,Q12769,P21912,P12235,P11166,O15460,Q96RR1,P04062,P04637,P06753,Q8N1F7,Q9NQZ5,P23786 23 |
| Ectrodactyly 0.5303194341401475 1.497387661799022 0.1342924168274359 1.0 0.644488174074547 15 Q99720,Q9NR77,O95202,P07196 4 |
| Hypopigmented skin patches 0.4202069087739251 1.49721332624545 0.1343377589371579 1.0 0.644488174074547 31 P21964,P07602,Q8IZA0,Q9NZJ7,P53701,Q15125 6 |
| Osteopetrosis 0.9349078341013836 1.495992607800842 0.1346555815345598 1.0 0.6448991364270793 3 Q15392,P51798 2 |
| Leukoencephalopathy 0.3390283966850309 1.4946981075934358 0.134993248406561 1.0 0.645631972811606 97 O43676,Q9NPL8,Q9NZJ7,O60313,P51571,Q96CU9,O95202,O15121,O00584,O96028,Q01105,O96000,O75503,Q9UHX1,Q86Y39,P07602,Q8IUX1,Q9Y6M9,O95831,Q9H9P8,P17900 21 |
| Mixed demyelinating and axonal polyneuropathy 0.8281118474483085 1.493269369659233 0.135366690074898 1.0 0.6467519636911793 4 P00403 1 |
| Amyotrophic lateral sclerosis 0.5063026684998867 1.4918664304217708 0.1357341646195808 1.0 0.6478411721411445 18 P22626,Q99720,P35637,P43243,Q92804,Q15165,Q14203,P31483,Q13501 9 |
| Bilateral tonic clonic seizure with generalized onset 0.5797469932091615 1.4911111709890967 0.135932309912617 1.0 0.6481207877147779 10 P04062,P11166,Q13510 3 |
| External ophthalmoplegia 0.4922089280830897 1.490254096854556 0.1361574371511134 1.0 0.6485283467997647 20 P03915,P16219,Q9GZY8,P21912,O60313,Q96RR1,P12235,P00403 8 |
| Steroid resistant nephrotic syndrome 0.7262179997662344 1.48868264935947 0.1365709560427084 1.0 0.6489317756914771 5 Q8N1F7,Q92621 2 |
| Posteriorly rotated ears 0.3282455045785359 1.483251317982294 0.1380076512585304 1.0 0.6523893951518588 114 O43924,P40855,O95202,P56589,O96028,Q9UM00,Q96L58,O75381,Q7LGA3,Q9UHX1,P37268,Q9Y4P3,Q9Y619,Q15392,Q9HC07,P04062,P42892,P23786,Q8NCH0,Q9H490,P98175,O43505,Q8WVQ1,P16435 24 |
| Aplasia hypoplasia involving the femoral head and neck 0.5782826125074761 1.4828945375374298 0.1381024329811593 1.0 0.6523893951518588 10 O95831,Q8WVQ1,O75431,Q96HY6 4 |
| Respiratory distress 0.3849620245026061 1.4811554590146152 0.1385651521936906 1.0 0.6523893951518588 54 Q8TCJ2,Q9NZJ7,Q13724,P00846,P51571,Q96L58,O43819,Q13510,Q9UHX1,P07602,P53007,O75648,Q9Y619,O95831,P04062,P16219,P10253,P53701,P51970,P23786 20 |
| Tremor by anatomical site 0.4367013305117315 1.4805937681650558 0.1387148570095888 1.0 0.6523893951518588 27 Q9NR77,Q96RL7,Q99720,P07196,P35637 5 |
| Reduced tendon reflexes 0.3466499911085222 1.479520646698408 0.1390012173573398 1.0 0.6523893951518588 173 Q9NR77,P02545,Q9NZJ7,Q9NWS8,P00846,O60313,P41440,P40855,P56589,Q96RL7,P50416,Q86SQ9,Q9H6K4,Q99720,Q9H2C2,Q9Y2B2,Q9BTV4,Q13217,P61978,P35637,Q15041,P12235,O75381,O43819,Q15067,Q9HC21,P35610,Q10713,Q13510,P07602,P54802,P07196,Q8N2K0,P05023,O43681,O14979,Q9BQT8,O95831,P39210,P04062,Q9BT22,O15269,P06753,P50402,O43505,O95721 46 |
| Pulmonary infiltrates 0.6162184041887927 1.4787503865374618 0.1392070402526697 1.0 0.6523893951518588 8 P04062,Q9NZ08,Q13510 3 |
| Microcornea 0.4168326900059211 1.478071214670407 0.1393887178432649 1.0 0.6523893951518588 33 Q8NCH0,Q96L58,O43505,Q9NWM8,Q15125,O75845 6 |
| Insulin resistance 0.4975864131240463 1.4776875970191257 0.1394914156994589 1.0 0.6523893951518588 19 Q03252,P02545,P43304,O75431,O75844 5 |
| Coarse facial features 0.3522632326151628 1.4769092334863088 0.139699969502107 1.0 0.6523893951518588 69 Q7LGA3,P08236,P38159,P10619,Q9Y2B2,P16278,Q96A33,P54802,P15586,O95831,P04066 11 |
| Supernumerary bones of the axial skeleton 0.7235367919788924 1.476805909832315 0.1397276719515767 1.0 0.6523893951518588 5 Q9UHX1 1 |
| Pedal edema 0.6479198022842362 1.4766719262072237 0.139763601043378 1.0 0.6523893951518588 7 Q14108 1 |
| Abnormal upper limb bone morphology 0.3280874202947317 1.4751983285225714 0.1401592307138623 1.0 0.653513521521262 108 O43924,Q9NX62,P08236,P02545,P16278,O95202,O96028,Q96L58,Q7RTS9,O75844,P51798,Q7LGA3,Q9UHX1,O75431,Q9Y4P3,Q9BV10,P48651,Q14739,Q32P28,Q8WVQ1,P16435 21 |
| Abnormality of lower limb joint 0.3466733716312462 1.472465027623034 0.140895344261188 1.0 0.6542639354561335 175 Q9NX62,Q9NR77,P08236,P02545,P16278,Q9NZJ7,O95202,Q9Y487,O96028,Q96L58,Q9Y2B2,Q96A33,P21912,Q7RTS9,O75844,Q9NW15,P51798,Q9Y584,Q7LGA3,Q13510,Q9UHX1,P07602,O75431,P37268,Q9Y619,Q15125,O95831,Q03252,P48651,P21964,Q8WVQ1,Q86XL3,Q96HY6,P16435,O75718 35 |
| Beaking of vertebral bodies 0.5664569628979248 1.4718921860794147 0.1410499940105367 1.0 0.6542639354561335 11 P08236,Q96L58,P16278,Q7RTS9,P04066 5 |
| Progressive external ophthalmoplegia 0.5467208223053628 1.471464747235175 0.1411654744459616 1.0 0.6542639354561335 13 P16219,O60313,Q96RR1,P12235,P00403 5 |
| Abnormal heart rate variability 0.8224281263124188 1.470214584775396 0.1415036458404492 1.0 0.6551773990857891 4 P07602 1 |
| Neuroinflammation 0.7210775069178119 1.465906242115466 0.1426738311828113 1.0 0.6584598102115805 5 Q9NZ08 1 |
| Functional motor deficit 0.3410574649153838 1.465735983751605 0.1427202270298588 1.0 0.6584598102115805 154 Q9NR77,Q9NZJ7,Q9Y2R0,P00846,Q9H2D1,Q9GZY8,P00403,Q96RL7,Q86SQ9,Q99720,Q9H2C2,P21912,P61978,P35637,Q53H12,Q7RTS9,Q15041,P12235,Q9NWM8,Q15067,Q15907,Q9HC21,Q13510,P07602,P13473,Q8IUX1,P20700,Q9BPX6,P07196,P04062,O14773,P53701,P23786,P46020 34 |
| Pace of progression 0.3464510307977487 1.4649966213225651 0.1429218395636053 1.0 0.6584598102115805 176 Q9NR77,P02545,Q8IV08,Q9P0J0,P15586,O60313,P41440,Q9GZY8,O15121,Q14108,P27544,Q96RL7,O00584,Q99720,Q9BTV4,Q9NR28,P12235,Q13510,O75569,Q9NZB8,P20700,P54802,P07196,Q9Y6M9,Q8N2K0,O14979,O95831,P39210,P55263,P04062,Q03252,P50402,O14773,Q9NQZ5,Q5XKP0,O95470,Q96D71 37 |
| Abnormal retinal morphology 0.3533907539347347 1.4648603162388762 0.1429590316711027 1.0 0.6584598102115805 234 O43924,Q7KZN9,P02545,P50897,Q9NZ08,P16278,Q9P0J0,Q9NZJ7,P00846,O60313,Q96CU9,O95202,P00403,P40855,Q9Y487,P01889,O96028,Q9H2C2,Q9Y2B2,Q7Z4L5,O76024,P21912,Q9NW15,Q15067,Q7LGA3,O75503,Q13510,Q9UHX1,P07602,Q8N2K0,Q9BV10,Q9Y619,Q9UG56,P06865,P04062,P21964,Q8NCH0,Q6P4Q7,P10619,P38435,P04439,O43505,O14773,P53701,P51648,Q5XKP0,P17900 47 |
| Prominent ear helix 0.821014648922815 1.4644783421989676 0.1430632964047125 1.0 0.6584598102115805 4 O75844 1 |
| Abnormality of retinal pigmentation 0.346926320038196 1.4629372108441083 0.1434845607792385 1.0 0.6597448517413701 81 P56589,Q7KZN9,P02545,Q6P4Q7,Q96CU9,Q9P0J0,Q7Z4L5,O76024,P21912,P53701,P00846,P51648,O75381,Q9UG56,P40855,P00403,Q15067 17 |
| Hyperkeratosis 0.3593578295134588 1.4607879732845876 0.1440736373531896 1.0 0.6617981917588653 62 P42167,P04062,P16615,P02545,Q9Y2B2,O75431,P21912,Q06136,O95721,P51648,P98194,O75844,Q9NWM8,P06280,P04066 15 |
| Aortic valve calcification 0.9251152073732736 1.4587878705751107 0.1446235020599879 1.0 0.6623585242274005 3 O75844,P04062 2 |
| Abnormal larynx physiology 0.5073245426384565 1.456482358387726 0.1452593229923569 1.0 0.6639166980431435 17 Q92804,Q15165,Q13510 3 |
| Insulin resistant diabetes mellitus 0.5925472804460292 1.4547870324353092 0.145728229264239 1.0 0.6639166980431435 9 O75844,P02545 2 |
| Head titubation 0.6429611902230173 1.4522432288533025 0.1464339866576263 1.0 0.6639166980431435 7 Q99720,P35637,Q96RL7 3 |
| Pulmonary embolism 0.7174592879804946 1.4498601512244025 0.147097521561494 1.0 0.6639166980431435 5 Q9NZ08 1 |
| Broad ribs 0.7172667040223771 1.4490057560294374 0.1473359751232208 1.0 0.6639166980431435 5 P48651,P16278 2 |
| Abnormal pupillary light reflex 0.9225230414746568 1.4489359283047776 0.1473554764310052 1.0 0.6639166980431435 3 Q9NR77,P07602 2 |
| Slow pupillary light response 0.9225230414746568 1.4489359283047776 0.1473554764310052 1.0 0.6639166980431435 3 Q9NR77,P07602 2 |
| Optic atrophy 0.3496617470809622 1.448191341766218 0.1475635453680466 1.0 0.6639166980431435 200 Q8TCJ2,Q7KZN9,Q9H061,P50897,P16278,Q9P0J0,Q9NZJ7,P00846,Q9BSJ2,O60313,P41440,Q96CU9,Q9GZY8,O95202,P00403,P40855,P56589,P01889,O96028,Q86SQ9,Q9H6K4,Q9H2C2,O76024,O75381,O43819,Q3ZCQ8,P51798,Q15067,Q15907,Q9HC21,P51572,P06280,Q86Y39,O15460,P07602,Q9BPX6,Q8N2K0,Q5KU26,Q15125,P21964,Q6P4Q7,Q9H9P8,Q9H490,P98175,O43505,Q9NVI7,Q5XKP0,O95721,Q04837 49 |
| Enlarged ovaries 0.8168620696860303 1.447620198765895 0.1477232989825767 1.0 0.6639166980431435 4 P16435 1 |
| Short nail 0.7164577884075884 1.4454166681105407 0.1483408843313158 1.0 0.6639166980431435 5 O75844,Q9Y487,P02545 3 |
| Polar cataract 0.9215905314341316 1.4453914725152666 0.148347957307654 1.0 0.6639166980431435 3 P08670 1 |
| Abnormal circulating iga level 0.5221458058136805 1.4448984382931882 0.1484864150645757 1.0 0.6639166980431435 15 Q15904,P00813 2 |
| Metaphyseal widening 0.4634693557960117 1.4438614761942483 0.1487779449794306 1.0 0.6639166980431435 23 P48651,Q14739,P16278,Q8WVQ1,Q7RTS9,Q96HY6,O95831 7 |
| Ulnar claw 0.8156408184294424 1.4426607014637336 0.1491160747178723 1.0 0.6639166980431435 4 P07196,Q9NR77 2 |
| Pendular nystagmus 0.6092608811449605 1.44249203953346 0.1491636156778661 1.0 0.6639166980431435 8 P00846 1 |
| Lower limb pain 0.6724098353739922 1.4418807401380471 0.1493360203952156 1.0 0.6639166980431435 6 O75477,P00846,Q8WVX9,O75569 4 |
| Abnormality of the biliary system 0.3272924981047268 1.4407233470782232 0.1496628563278113 1.0 0.6639166980431435 118 P02545,Q9NZJ7,Q6PGP7,O95202,Q14108,P40855,P04066,O96028,P09601,Q96A33,Q5HYI8,P11166,O75381,Q13510,Q15904,P07602,P36551,Q9Y4P3,O75845,P39210,P55263,P04062,Q14739,P21964,O15118,Q5XKP0 26 |
| Abnormal circulating citrulline concentration 0.7153819445651157 1.440642379535031 0.1496857411399323 1.0 0.6639166980431435 5 Q9Y619,Q9UJS0,P00846 3 |
| Severe muscular hypotonia 0.4235205135970776 1.4406404647675954 0.1496862823655578 1.0 0.6639166980431435 28 P56589,P02545,Q01105,Q9NWM8,O43505,Q9NWS8,O75381,Q9GZY8,P40855,O95831 10 |
| Large placenta 0.9199308755760388 1.4390827886540445 0.1501270678479422 1.0 0.6639166980431435 3 O75844,P02545 2 |
| Chordee 0.6402591533605224 1.438917320022398 0.1501739496559084 1.0 0.6639166980431435 7 P48651,P16435 2 |
| Abnormal corneal epithelium morphology 0.4984705401167323 1.4377123773246323 0.1505156797411855 1.0 0.6639166980431435 18 Q14739,P02545,Q9NZ08,P51648,O75844 5 |
| Abnormality of the phalanges of the toes 0.4849532701524471 1.4376928932086472 0.1505212104378261 1.0 0.6639166980431435 20 Q7LGA3,P02545,Q9Y2B2,O75431,O75844 5 |
| Butterfly vertebrae 0.7146590281933423 1.4374337363173135 0.150594788590626 1.0 0.6639166980431435 5 O75845 1 |
| Abnormality of the alveolar ridges 0.6707542886947362 1.4341380775765888 0.1515328635789408 1.0 0.6639166980431435 6 O43924,Q15392,P98175,P53634 4 |
| Heart block 0.4619703908053851 1.4321638221590185 0.1520969427401777 1.0 0.6639166980431435 23 P02545,O43772,Q9BTV4,Q9H490,P0DP25,P50402,P06280 7 |
| Limb girdle muscle weakness 0.4545594048155628 1.4309614805043678 0.1524412550804759 1.0 0.6639166980431435 24 P02545,P07602,P06753,P53007,O14979,Q9NZJ7,O60313,Q13126,Q96RR1,P43243,P12235 11 |
| Entropion 0.5879912024367444 1.4301161522828576 0.1526836850796893 1.0 0.6639166980431435 9 O75844,P02545 2 |
| Abnormality of coordination 0.3375907388413867 1.4278139890341286 0.1533454052702239 1.0 0.664157731442923 338 Q9NR77,O43676,P50897,P00846,Q14108,Q92643,O14949,P56589,Q15233,Q86SQ9,Q9H6K4,Q13217,O43819,O96000,P35610,Q10713,O75503,Q86Y39,O15460,P07602,Q96IX5,O96008,P04062,O14773,O95470,O43924,Q6DKK2,Q8IV08,Q86VD7,P16278,O15121,P00403,Q96RL7,Q9Y487,Q99720,P05067,Q01105,Q9NW15,Q15067,Q15907,Q13510,P07196,Q9Y619,O95831,O15118,Q9NQZ5,Q7KZN9,Q9NZ08,Q9P0J0,Q9NZJ7,O95202,P01889,Q9H2C2,Q9Y2B2,P35637,Q7RTS9,P11166,Q6P4A7,Q8IUX1,Q9Y6M9,Q8N2K0,P55795,Q03252,Q9NVI7,Q5XKP0,O95721,Q96D71,Q9NPL8,O60313,P41440,Q96CU9,P40855,O00584,O96028,O76024,P21912,P12235,O75381,P20700,Q9BPX6,Q9Y4P3,P39210,P00374 83 |
| J shaped sella turcica 0.8118929212232757 1.4274362535108147 0.1534541873036727 1.0 0.664157731442923 4 P08236 1 |
| Hydrops fetalis 0.3965687566503846 1.4254274287303486 0.1540336840605638 1.0 0.6642408344892072 45 P04062,Q14739,Q13510,Q9BT22,P10619,P16278,O96000 7 |
| Titubation 0.5579997219928446 1.4231439948525886 0.154694416946437 1.0 0.6642408344892072 11 Q99720,P35637,P20700,Q96RL7 4 |
| Redundant neck skin 0.7113914915872742 1.4229255408457913 0.1547577413116339 1.0 0.6642408344892072 5 O96000 1 |
| Adrenal insufficiency 0.4214701722497928 1.4225220705523078 0.1548747490419335 1.0 0.6642408344892072 28 Q13423,P40855,O75381,P16435,O95470,P33991 6 |
| Chronic pulmonary obstruction 0.6050767801249451 1.4206495161056678 0.155418675747063 1.0 0.6642408344892072 8 P09601,P21964 2 |
| Difficulty walking 0.3456651073983624 1.4206126527945937 0.1554293980835197 1.0 0.6642408344892072 77 Q15907,Q9NR77,Q13510,Q99720,Q9H2C2,P07602,Q9NZJ7,O14773,P00846,P35637,Q7RTS9,Q15067 12 |
| Atlantoaxial dislocation 0.8776274114598387 1.4200481699068337 0.1555936579115395 1.0 0.6642408344892072 2 Q8NCH0 1 |
| Phalangeal dislocation 0.8776274114598344 1.4200481699068168 0.1555936579115444 1.0 0.6642408344892072 2 Q8WVQ1 1 |
| Advanced ossification of carpal bones 0.8776274114598344 1.4200481699068168 0.1555936579115444 1.0 0.6642408344892072 2 Q8WVQ1 1 |
| Abnormal sensory nerve conduction velocity 0.6362754101070661 1.4192527435391802 0.1558253439671997 1.0 0.6642408344892072 7 Q9NR77 1 |
| Hyporeflexia of lower limbs 0.6046742748912524 1.4185468700038504 0.1560311648790204 1.0 0.6642408344892072 8 Q9NR77 1 |
| Bradykinesia 0.4119889613168191 1.4180817978999194 0.1561668847972346 1.0 0.6642408344892072 30 Q6DKK2,P04062,Q96RL7,O75569,Q86SQ9,Q96IX5,O43464,P12235 8 |
| Recurrent hand flapping 0.710265696078821 1.4179249299385828 0.1562126830673158 1.0 0.6642408344892072 5 Q9UNW9 1 |
| Aplastic clavicle 0.9141705069124432 1.417183513326895 0.1564292806948175 1.0 0.6642408344892072 3 Q9Y619,P48651 2 |
| Developmental regression 0.3318182064658459 1.4165310036665582 0.1566200934034629 1.0 0.6642408344892072 134 Q86VD7,Q9NZ08,P16278,Q9NZJ7,P00846,P13073,Q9GZY8,P40855,P56589,P01889,Q86SQ9,Q9H2C2,O76024,P21912,O75381,O43819,P06280,Q15067,O75503,Q13510,P07602,Q96IX5,Q9Y4P3,O95831,P55795,Q9H9P8,P49792,O14773,P17900,O95470 30 |
| Schistocytosis 0.8073272254263624 1.4088818267780467 0.1588701140959629 1.0 0.6710429284762166 4 O75845 1 |
| Prominent sternum 0.911866359447006 1.4084228251411228 0.1590059043906149 1.0 0.6710429284762166 3 P16278,O95831 2 |
| Saccadic smooth pursuit 0.6652310376870901 1.4082856684635288 0.1590464976371119 1.0 0.6710429284762166 6 Q9NW15,O14773 2 |
| Fever 0.338854207303073 1.4081355811904783 0.1590909268415836 1.0 0.6710429284762166 89 Q9NR77,Q8NFH4,Q9NZ08,Q9NZJ7,P00846,P00403,P01889,P61978,P28070,P51572,P06280,P35610,Q13510,O15460,P07602,Q9HC07,Q14739,P49792,P00813,P14174,Q8N1F7,P23786 22 |
| Hypoplastic vertebral bodies 0.6649689567624495 1.407058174406861 0.1594101391790809 1.0 0.6711701598800109 6 Q14739 1 |
| Abnormal sacrum morphology 0.4102131341610992 1.4050116849004513 0.1600178036511403 1.0 0.6717899987835392 31 P01889,Q14739,O96028,Q03164,Q9UM00,P53701,Q9Y4P3,O95202,Q15125,P04066 10 |
| Dystrophic toenail 0.6641495212345487 1.4032197854916768 0.1605513093415584 1.0 0.6723176560705117 6 O75844 1 |
| Female hypogonadism 0.6637817788600894 1.4014969946914344 0.1610655056177836 1.0 0.6733449607544055 6 O75844 1 |
| Centrally nucleated skeletal muscle fibers 0.6013467504964971 1.4011549677181614 0.1611677372356532 1.0 0.6733449607544055 8 P22626,P06753,Q9BPX6 3 |
| Distal muscle weakness 0.3475926677544198 1.400505490991403 0.1613620002532096 1.0 0.6733449607544055 64 Q9NR77,Q96RL7,P02545,Q99720,P22626,P07196,P36551,P35637,P00846,P41440,Q9BQT8,O95831,P39210 13 |
| Zonular cataract 0.5540725085869668 1.400456695875423 0.1613766023513465 1.0 0.6733449607544055 11 Q9H6K4,P08670,P11166 3 |
| Deep palmar crease 0.5346847598180248 1.3983139597864371 0.1620188076423101 1.0 0.6742072963180002 13 P98175,P61978,O75431,Q9Y487 4 |
| Abnormal response to endocrine stimulation test 0.9090202157679512 1.3976009015283894 0.1622329474918329 1.0 0.6744940090886948 3 Q13423 1 |
| Abnormality of bone mineral density 0.33434533938652 1.3925778049216095 0.1637474985865101 1.0 0.6795740692008518 146 P02545,P16278,Q9NZJ7,O95202,Q14108,Q9Y487,O96028,Q96L58,O75844,P12235,Q9NWM8,P06280,P51798,Q9HC21,Q13510,P07602,O75431,P54802,Q15392,Q15125,O75845,O95831,Q9HC07,P04062,P48651,Q14739,Q32P28,Q9H490,Q8WVQ1,Q96HY6,O75718 31 |
| Generalized muscle weakness 0.4067529229593877 1.3907626915755034 0.1642973999540575 1.0 0.6801431493728184 34 P49792,P06753,P53007,O75190,P21912,P10253,P35637,P43243,Q92804,Q15165,P12235,Q14203,O95831,Q13501 14 |
| Abnormality of corneal size 0.395368343978639 1.3902709155633644 0.1644466261904147 1.0 0.6801431493728184 43 Q8NCH0,O96028,Q96L58,Q9NWM8,O43505,Q9Y4P3,O95202,Q15125,O75845 9 |
| Abnormality of the lymphatic system 0.3379566307798084 1.389863692749085 0.1645702725546218 1.0 0.6801431493728184 159 P08236,P02545,Q9NZ08,P16278,Q9NZJ7,P15586,Q6PGP7,O95202,Q14108,P04066,Q96RL7,P01889,Q96A33,P28070,Q5HYI8,P11166,P51798,Q13510,P07602,P54802,Q15392,O75845,P04062,Q14739,P21964,Q9BT22,P10619,O15118,P00813 29 |
| Abnormal left ventricle morphology 0.4090810887912908 1.3897037546995386 0.1646188542003133 1.0 0.6801431493728184 29 Q15233,O75431,P21912,P78536,Q13724,O75880,Q6NUK1,Q96RR1,P10253,P12235,P00403,P06280 12 |
| Motor deterioration 0.7036130875971476 1.3883558542473986 0.1650287119957099 1.0 0.6806335155489136 5 O75503 1 |
| Bulbous nose 0.3950984090510189 1.3874602588281106 0.1653014612966319 1.0 0.6807124171357458 43 P42892,P21964,P38159,Q9Y2B2,O75431,Q96A33,Q9BSJ2,P23786,P16435,O75845 10 |
| Widely patent fontanelles and sutures 0.80200487136409 1.387242787386104 0.1653677423487076 1.0 0.6807124171357458 4 O75844,P02545 2 |
| Hypothermia 0.5515308553543005 1.3857575747422732 0.1658209410173969 1.0 0.6808774978645372 11 Q5XKP0,P00846,O43772 3 |
| Thoracic kyphosis 0.4965442691159655 1.3833427220511807 0.1665598042849341 1.0 0.6824285800443659 17 P04062,P08236,Q9UHX1,P51648,O95831 5 |
| Abnormal oral physiology 0.3598369814925172 1.3813413102045995 0.1671740421210554 1.0 0.6835935268295549 60 Q9NR77,Q96RL7,P01889,Q14739,P15586,P35637,Q92804,Q15165,P55795 9 |
| Tube feeding 0.343860057149678 1.3804340347513826 0.1674530470358752 1.0 0.6835935268295549 74 Q9NZJ7,Q13724,Q9GZY8,O15121,Q15233,Q99720,Q9Y2B2,Q01105,P35637,P61978,Q9NZ01,Q96N66,Q9UHX1,P07602,P37268,O75648,Q9BV10,P49711,P06753,Q9H490,P55011 21 |
| Short long bone 0.3978045430915622 1.3802398829433806 0.1675127979181812 1.0 0.6835935268295549 40 P49585,Q9UHX1,Q96L58,Q14999,Q7Z4L5,P16278,P98175,Q8WVQ1,Q7RTS9,Q9BV10,Q96HY6 11 |
| Extra axial cerebrospinal fluid accumulation 0.8678376043766217 1.379573732805797 0.1677179296448314 1.0 0.6838297324588211 2 Q03252 1 |
| Muscle spasm 0.359445201592208 1.3763722567464882 0.1687064126945685 1.0 0.6852020692127396 60 Q9NR77,P04062,Q9H6K4,P13473,P07196,P35637,P00846,O43464,Q92804,Q15165,P12235,P06280,P53985 13 |
| Chronic fatigue 0.5963692383920225 1.375109470067695 0.1690975088504518 1.0 0.6852020692127396 8 Q13423,P07602,Q9NZJ7 3 |
| Aplasia hypoplasia of toe 0.3954670805114033 1.3750601493354846 0.1691127977042779 1.0 0.6852020692127396 41 Q9NX62,Q7LGA3,P02545,Q13510,Q9UHX1,P00813,P13073,O95202 8 |
| Biliary tract neoplasm 0.7989371566254843 1.3747663737640743 0.1692038862010034 1.0 0.6852020692127396 4 P07602,Q9NZJ7 2 |
| Neoplasm of the gallbladder 0.7989371566254843 1.3747663737640743 0.1692038862010034 1.0 0.6852020692127396 4 P07602,Q9NZJ7 2 |
| Progressive peripheral neuropathy 0.7989371566254843 1.3747663737640743 0.1692038862010034 1.0 0.6852020692127396 4 P07602,Q9NZJ7 2 |
| Oligosacchariduria 0.7004313773872484 1.3742032171444796 0.1693786022728338 1.0 0.6852020692127396 5 O00754,P16278,P04066 3 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.657885984809597 1.3738588707967354 0.1694855003651687 1.0 0.6852020692127396 6 Q7LGA3,Q7RTS9 2 |
| Dry skin 0.4049613457898327 1.3737156727801638 0.169529969320723 1.0 0.6852020692127396 34 P37268,Q06136,P00813,P51648,Q6PGP7 5 |
| Chorea 0.3361550580167209 1.3679633196911951 0.1713235578918308 1.0 0.6883653126512091 89 Q96RL7,Q99720,Q9H6K4,Q86VD7,P07602,Q01105,Q9P0J0,Q9NZJ7,Q96IX5,Q9BPX6,P35637,P00846,Q5XKP0,P17900,Q9NZ01,P11166,O43819,Q96N66 18 |
| Hepatosplenomegaly 0.3964940322737136 1.3669735560552687 0.1716335943450544 1.0 0.6883653126512091 40 P04062,Q14739,Q13510,P10619,P16278,Q5HYI8,P11166,O75845,P51798 9 |
| Blurred vision 0.6986910246527551 1.3664592125332988 0.1717948745397828 1.0 0.6883653126512091 5 P00846 1 |
| Diffuse white matter abnormalities 0.5944798120082464 1.3652139432061126 0.1721858172535375 1.0 0.6892703297375782 8 O43819,P16278 2 |
| Abnormality of the pharynx 0.3793209264000639 1.3633797886982624 0.1727628475052844 1.0 0.6892703297375782 52 P08236,P01889,Q13510,P21964,P16278,P54802,P15586,P00813,Q7RTS9,Q9BV10 10 |
| Increased adipose tissue 0.7956714985760215 1.361482188449592 0.1733613585724636 1.0 0.6910645057601038 4 P02545 1 |
| Limb girdle muscle atrophy 0.5372935463033266 1.3597333770133793 0.1739143119244339 1.0 0.691578893856849 12 Q9BTV4,O14979,P02545,P50402 4 |
| Subcutaneous hemorrhage 0.3939503425892489 1.3595263620296412 0.1739798547093143 1.0 0.691578893856849 41 P04062,P21964,Q8NCH0,Q9NWM8,Q14108,P51798 6 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6547597376835138 1.3591909956516153 0.1740860738412266 1.0 0.691578893856849 6 P02545,P50402 2 |
| Abdominal distention 0.4375850274625591 1.353829894394586 0.1757906538855775 1.0 0.6945075716373026 25 P04062,P07602,Q9NZJ7,O75648,Q7RTS9,Q96HY6,O43681,Q01844,Q9UGP8 9 |
| Limb muscle weakness 0.3368360159213112 1.3530110106336193 0.1760521128521845 1.0 0.6945075716373026 86 Q9NR77,Q96BR5,P02545,Q969G3,P00846,Q9Y4W6,Q96RL7,Q99720,Q9BTV4,Q12768,Q13126,Q7RTS9,Q6UWE0,P12235,O43819,Q15120,Q15067,Q8IY17,Q13510,Q86U42,P53007,P07196,P36551,P05023,Q96RR1,Q14203,Q9BQT8,P31483,P39210,Q14739,O15269,P06753,P50402,Q13501 34 |
| Abnormal endocardium morphology 0.5077849285380445 1.352246833074079 0.1762963662830516 1.0 0.6945075716373026 15 P04062,Q9NZ08,P01889,P06280 4 |
| Leg muscle stiffness 0.7932577569446834 1.3516619142776451 0.1764834940020438 1.0 0.6945075716373026 4 P00846 1 |
| Shallow orbits 0.5733662280019785 1.3506872560954968 0.1767956362876077 1.0 0.6945075716373026 9 O75844,P61978,O75431,P02545 4 |
| Cardiorespiratory arrest 0.6950058234862497 1.3500554064250605 0.176998211005863 1.0 0.6945075716373026 5 P13473,O43772 2 |
| Profound global developmental delay 0.517308696016911 1.3496909666069428 0.1771151311615533 1.0 0.6945075716373026 14 Q9H490,P37268,O60313,P40855,Q9GZY8,O75381 6 |
| Depletion of mitochondrial dna in muscle tissue 0.6946552013720149 1.348494301882292 0.1774994516455914 1.0 0.6945075716373026 5 Q9UBX3,P12235 2 |
| Mottled pigmentation 0.8960923434909103 1.3484450676735165 0.1775152769797592 1.0 0.6945075716373026 3 O75844 1 |
| Contractures of the joints of the lower limbs 0.3779975322287315 1.348234816780579 0.1775828696733905 1.0 0.6945075716373026 52 Q7LGA3,P48651,P02545,Q99720,Q9BTV4,Q8IZA0,P37268,P21912,P50402,P35637,O60313,Q8N2K0,Q86XL3,Q9HC21 14 |
| Aplasia hypoplasia involving bones of the feet 0.3388930787023649 1.3475607447541476 0.1777997035291152 1.0 0.6945075716373026 81 Q9NX62,Q7LGA3,Q13510,Q9UHX1,P02545,Q03164,Q9Y2B2,Q7Z4L5,Q96A33,P00813,Q7RTS9,Q8WVQ1,P13073,O95202,Q13555 15 |
| Hip pain 0.6940164418784586 1.3456501315343636 0.1784153760468021 1.0 0.695281935503694 5 O75844,P02545 2 |
| Alveolar ridge overgrowth 0.858335732795861 1.340315532942896 0.1801427836643956 1.0 0.6954140376869936 2 Q15392 1 |
| Abnormal caudate nucleus morphology 0.5435481389829188 1.3395139347607337 0.1804034211203964 1.0 0.695841767178672 11 P00846 1 |
| Distal amyotrophy 0.3532988090917504 1.338612779000259 0.1806967637925247 1.0 0.6963948307489503 61 Q9NR77,Q96RL7,P02545,Q13510,Q99720,P21912,P07196,P35637,Q8N2K0,Q9NVI7,Q9BQT8,P39210 12 |
| Abnormality of the tonsils 0.5708727598509757 1.3371126467179957 0.1811858696647055 1.0 0.6969110521432544 9 P00813 1 |
| Abnormal joint morphology 0.3444969866801871 1.3364141778615484 0.1814139347487384 1.0 0.6969110521432544 282 Q9NX62,Q9NR77,P08236,P02545,Q9NZ08,P16278,Q9NZJ7,P10321,P51571,O95202,Q14108,Q96RL7,Q9Y487,P01889,Q03164,O96028,Q9H6K4,Q9BTV4,Q96L58,Q9Y2B2,Q96A33,P21912,P28070,Q7RTS9,Q15041,O75844,Q9NW15,P51798,Q9Y584,Q7LGA3,Q13510,Q9UHX1,P07602,O75431,P37268,P07196,Q9BV10,Q9Y619,Q15392,Q15125,O95831,P04062,P42892,P48651,Q14739,Q8NCH0,P21964,Q03252,P38435,Q8IZA0,P50402,Q8WVQ1,Q86XL3,Q96HY6,P16435,O75718 56 |
| Abnormality of circulating enzyme level 0.3248218347959731 1.3354932619457718 0.1817149591231712 1.0 0.6969110521432544 102 Q96BR5,P02545,Q86VD7,P43243,Q6ZXV5,Q96RL7,P50416,Q9BTV4,P12235,Q9NWM8,Q9Y584,Q86U42,O43772,P22626,P13473,P42166,Q9BPX6,O75648,P07196,Q9Y4P3,Q96RR1,O14979,O95831,P39210,P42167,Q9HC07,Q5JRX3,P06753,P50402,O43505,P10253,P23786,P46020,P53985 34 |
| Vascular tortuosity 0.7890381903994306 1.3344921207537137 0.1820426274039082 1.0 0.6969110521432544 4 P00846 1 |
| Abnormal head movements 0.5329398160001032 1.3338477474726087 0.1822537591106969 1.0 0.6969110521432544 12 Q99720,P35637,P11166,Q96RL7 4 |
| Neurofibrillary tangles 0.7888216652261747 1.333610988191852 0.1823313799212003 1.0 0.6969110521432544 4 O96008,P05067,O15118 3 |
| Abnormal cranial nerve physiology 0.3401338138783614 1.3326740558734012 0.1826387908033862 1.0 0.6975119609300373 75 Q9NR77,P02545,O95155,Q9NZ08,Q96TA2,Q969G3,Q9NZJ7,P40855,P56589,P01889,P21912,P12235,O75381,O43819,P51798,Q13510,Q9UHX1,Q86U42,P07602,P53007,P07196,Q96RR1,P48651,P06753,P16219 25 |
| Dysmetric saccades 0.5880299579994611 1.331399898116757 0.1830574629310175 1.0 0.6980466487708021 8 O14773 1 |
| Kyphosis 0.3342445367611765 1.3313331405455633 0.1830794182176651 1.0 0.6980466487708021 158 Q9NR77,P08236,P02545,P16278,O95202,Q14108,P04066,Q9Y487,P01889,O96028,Q9BTV4,Q96L58,P21912,Q7RTS9,O75844,Q9NWM8,Q7LGA3,Q9UHX1,Q9Y4P3,Q15125,O95831,Q9HC07,P04062,P48651,Q14739,Q8NCH0,Q9BT22,Q32P28,P50402,Q8WVQ1,P51648 31 |
| Decreased light and dark adapted electroretinogram amplitude 0.890991448597076 1.3290535384199806 0.1838303072298568 1.0 0.6991705752937148 3 P50897 1 |
| Mortality aging 0.3184906272054137 1.328620772066262 0.183973115440295 1.0 0.6991705752937148 113 Q8TCJ2,P02545,Q9NPL8,P16278,Q9NZJ7,Q9NWS8,O43464,P40855,P56589,P05067,O75844,O75381,O43819,O96000,Q9HC21,Q15067,Q15904,P07602,O75431,Q9Y4P3,P04062,Q14739,Q9BT22,Q9NVI7,P16435,O75718,O95721 27 |
| Elevated circulating long chain fatty acid concentration 0.8554563777713813 1.3284262356738132 0.184037337101238 1.0 0.6991705752937148 2 P40855 1 |
| Lipodystrophy 0.3982514776360963 1.3279602670355446 0.1841912332982558 1.0 0.6991705752937148 36 P42167,Q03252,Q9Y487,P02545,O75431,P50402,P28070,O75844,P04066 9 |
| Metaphyseal cupping 0.7873811581676897 1.32774880852208 0.1842611034565029 1.0 0.6991705752937148 4 P49585,Q14739,O95831 3 |
| Cytochrome c oxidase negative muscle fibers 0.5689774226040012 1.3267885986604502 0.1845786230211228 1.0 0.6991705752937148 9 O75648,Q9Y2R0,P12235 3 |
| Exercise induced muscle stiffness 0.8540167002591463 1.3224830701018009 0.1860073432397926 1.0 0.7026221835328216 2 P53985 1 |
| Upper limb spasticity 0.5861722673273381 1.3216515664805042 0.1862842036169743 1.0 0.7026221835328216 8 Q99720 1 |
| Stenosis of the external auditory canal 0.6162404311639155 1.3200763799281083 0.1868095179939701 1.0 0.7026221835328216 7 O95202,P16435,O96028 3 |
| Congenital ichthyosiform erythroderma 0.6457709909016036 1.316973630877428 0.1878474635761473 1.0 0.7026221835328216 6 Q15125 1 |
| Meningitis 0.6155300836721536 1.3165526367688198 0.1879886237057957 1.0 0.7026221835328216 7 Q9NZ08,P01889 2 |
| Orofacial dyskinesia 0.6155007061197428 1.3164068973666347 0.1880375086407202 1.0 0.7026221835328216 7 Q96RL7,O75569 2 |
| Muscle weakness 0.3394610450043858 1.3150623056349986 0.1884889636101248 1.0 0.7026743829079094 308 Q9NR77,O43676,P00846,Q15165,P56589,Q15233,Q86SQ9,Q70HW3,P61978,Q53H12,O43819,O96000,Q3ZCQ8,Q10713,Q9UHX1,Q86Y39,O15460,P07602,P05023,O43681,Q14739,Q8NCH0,P06753,P16219,P17900,Q6DKK2,P13073,P00403,Q96RL7,Q99720,Q9NWM8,P51798,Q15067,Q13510,O43772,P07196,Q9BQT8,O95831,Q9HC07,P48651,P50402,Q92804,P02545,Q9P0J0,Q9NZJ7,P01889,Q9H2C2,P35637,Q7RTS9,Q9HC21,P13473,Q8IUX1,Q9Y6M9,O14979,P06865,O43505,Q5XKP0,O95721,Q9NPL8,O60313,P41440,Q96CU9,Q9GZY8,P40855,Q9BTV4,P21912,P12235,O75381,P22626,P20700,Q9BPX6,P36551,Q5KU26,P39210,P00374,O15269,P49792,P23786,P46020 79 |
| Decreased calvarial ossification 0.7841234751011906 1.3144908231621306 0.188681084299346 1.0 0.7026743829079094 4 O75844,O75718 2 |
| Wormian bones 0.4745479623605378 1.3140214307439766 0.1888389923967024 1.0 0.7026989428608061 19 Q9Y487,P02545,O75844,O75718,O95831 5 |
| Occipital encephalocele 0.7836358398156157 1.3125061968894554 0.1893493965451278 1.0 0.703341638259701 4 Q10713,Q6ZXV5,O43505 3 |
| Abnormal leukocyte physiology 0.340450053143051 1.312245390069826 0.1894373513864828 1.0 0.703341638259701 68 Q6PGP7,P04062,P21964,P02545,Q15904,P09601,Q9NZ71,Q13724,P28070,P00813,Q9H0U3,Q9BV10,P14174,O00754,P78536,Q14108 16 |
| Eyelid myoclonus 0.5660219529590208 1.3106805441899965 0.1899657145106643 1.0 0.7046332094149562 9 Q01105,Q13510 2 |
| Retinal coloboma 0.5289033990895728 1.3098193227406505 0.1902569647704828 1.0 0.705150314759874 12 Q9Y2B2,Q9UHX1 2 |
| Narrow mouth 0.3364584112702494 1.3064431526635236 0.1914018990887125 1.0 0.7076856428616698 80 Q9NX62,Q6PGP7,P04062,Q7LGA3,Q9Y487,Q8NCH0,P21964,P02545,O75431,Q8WVQ1,P16435,O75844,Q15392,Q9Y619 14 |
| Gastrointestinal hemorrhage 0.3977542675452856 1.3049907527126374 0.1918959966226241 1.0 0.7076856428616698 34 Q9UJS0,P01889,Q14739,Q9UHX1,P21964,Q9NZ08,O76024,P21912,P16930,Q9UGP8 10 |
| Platyspondyly 0.388598862229095 1.3046275411453372 0.1920197054565269 1.0 0.7076856428616698 41 P08236,Q14739,Q32P28,P16278,P00813,Q7RTS9,Q8WVQ1,Q96HY6,O95831,P04066 10 |
| Hyporeflexia of upper limbs 0.8844801878966054 1.3043071592216653 0.192128875304979 1.0 0.7076856428616698 3 Q9NR77 1 |
| Nephropathy 0.4515310927276789 1.2988692117137597 0.1939888172849531 1.0 0.7108184865087416 22 Q14108,Q7Z4L5,O76024,P36551,P00403,P06280 6 |
| Respiratory failure 0.3394431442124989 1.298436420060627 0.194137410953826 1.0 0.7108184865087416 68 Q92804,Q5XKP0,Q13510,Q9BT22,P07602,Q70HW3,Q9NZJ7,P35637,P53701,O43464,Q9Y619,Q15165,P33991 13 |
| Mania 0.4890712087778489 1.2970058143777996 0.1946291862242237 1.0 0.7108184865087416 16 Q9UJS0,P21964,P16615,Q96RR1,P12235,P00403 6 |
| Abnormal myocardium morphology 0.3368851198462717 1.2964678763337836 0.1948143403936395 1.0 0.7108184865087416 177 Q7KZN9,O43676,Q9H061,P02545,P08236,Q13423,Q9NPL8,Q9NZ08,P16278,Q9P0J0,P15586,Q9NWS8,P00846,O60313,Q96CU9,P40855,Q14108,P00403,P56589,Q15233,Q96RL7,P50416,P01889,Q9BTV4,O76024,P21912,Q53H12,P12235,O75381,O43819,O96000,P06280,O43772,Q86Y39,P22626,P13473,Q8IUX1,P54802,Q96IX5,Q9Y6M9,Q9Y4P3,P42167,P04062,Q9BT22,P06753,P50402,P53701,Q9NVI7,P23786,Q5XKP0 50 |
| Glucose intolerance 0.3165296007141681 1.2960111438547628 0.1949716456229846 1.0 0.7108184865087416 113 O43676,P02545,P43304,Q9NPL8,P00846,O60313,Q96CU9,P00403,O76024,Q06136,O75844,Q5HYI8,P12235,O96000,Q86Y39,Q8IUX1,O75431,Q9Y6M9,Q03252 19 |
| Skeletal dysplasia 0.3787969117053414 1.2947029941299009 0.1954227066844507 1.0 0.7108184865087416 49 Q9HC07,Q14739,Q96L58,P10619,Q7Z4L5,P16278,Q8WVQ1,Q7RTS9,P51648,Q96HY6,P40855,O95831 12 |
| Vertebral segmentation defect 0.3980814002940618 1.2901419494009114 0.1970013771419121 1.0 0.7108184865087416 30 Q9UHX1,O96028,Q9UM00,Q9Y4P3,P16435,Q9Y619,O95202,Q15125 8 |
| Atrophy degeneration affecting the brainstem 0.5168550437001763 1.2893872757580744 0.1972634827953374 1.0 0.7108184865087416 13 Q13813,P20700,Q13217,O60313,O15121 5 |
| Abnormality of neutrophil morphology 0.6397564347919549 1.2886941187494574 0.1975044479262955 1.0 0.7108184865087416 6 Q14739 1 |
| Tetraplegia 0.5074605191877339 1.2877235528895563 0.1978422117595317 1.0 0.7108184865087416 14 Q13423,P49792,O43681,P51572,O95831 5 |
| Motor neuron atrophy 0.4365385735387278 1.2864050075152211 0.1983017517107665 1.0 0.7108184865087416 24 Q13510,Q99720,P35637,Q92804,Q15165 5 |
| Abnormal thorax morphology 0.3436248634583762 1.2853015419526757 0.198686931563885 1.0 0.7108184865087416 236 P08236,P02545,P16278,P15586,O60313,O95202,P04066,Q9Y487,Q03164,O96028,Q9BTV4,Q96L58,Q9Y2B2,Q7Z4L5,Q96A33,Q7RTS9,O75844,P11166,P51798,Q7LGA3,Q13510,Q9UHX1,O75431,P54802,P07196,Q9BV10,Q9Y619,Q15125,O75845,O95831,P55795,P04062,P48651,Q14739,Q8NCH0,P21964,Q32P28,Q9H490,P46783,P50402,P00813,P51648,Q8WVQ1,Q9NVI7,P16435,Q96HY6,O75718 47 |
| Head tremor 0.507073193440963 1.2852827262765498 0.1986935041742619 1.0 0.7108184865087416 14 Q99720,P35637,Q96RL7,P07196 4 |
| Micrographia 0.8787228498852724 1.2824350798312694 0.1996900649712789 1.0 0.7108184865087416 3 P04062 1 |
| Retinal arteriolar tortuosity 0.5336631520114974 1.2821047621858768 0.1998058986465616 1.0 0.7108184865087416 11 P00846,P21964 2 |
| Abnormality of the gallbladder 0.3895957236572094 1.28101071482754 0.200189902593888 1.0 0.7108184865087416 39 P04062,P21964,O96028,P07602,Q96A33,Q9NZJ7,P40855,O95202,O75845,P04066 10 |
| Parkinsonism with favorable response to dopaminergic medication 0.5239396594266198 1.280234999014006 0.2004625003931264 1.0 0.7108184865087416 12 P04062,P07602,Q9NZJ7 3 |
| Abnormal bone structure 0.3384931464437657 1.279918199269403 0.2005739063115712 1.0 0.7108184865087416 190 P08236,P02545,P16278,Q9NZJ7,O95202,Q14108,P40855,Q9Y487,O96028,Q96L58,Q9Y2B2,P21912,Q7RTS9,O75844,P12235,Q9NWM8,O75381,P06280,P51798,Q9HC21,Q13510,P22626,P07602,O75431,P54802,Q9BV10,Q9Y619,Q9UG56,Q15392,Q15125,O75845,O95831,Q9HC07,P04062,P48651,Q14739,Q32P28,P38435,Q9H490,Q8WVQ1,Q86XL3,Q96HY6,O75718 43 |
| Aplasia hypoplasia involving the pelvis 0.4813736587374379 1.2798951384398134 0.2005820176557384 1.0 0.7108184865087416 17 O96028,Q96L58,Q14999,O75431,Q8WVQ1,Q96HY6,O95202,O95831,Q15738 9 |
| Flaring of rib cage 0.8778801843317997 1.2792346695113084 0.2008144305642178 1.0 0.7108184865087416 3 Q7RTS9,P16278 2 |
| Generalized lipodystrophy 0.7752541653141252 1.2783930957230774 0.2011108572401827 1.0 0.7108184865087416 4 O75844,P02545 2 |
| Skin ulcer 0.3949221114483007 1.2779242921270089 0.2012761218257956 1.0 0.7108184865087416 34 Q03518,P04062,P01889,P02545,Q14739,O15269,O15460,Q9Y2B2,Q8IZA0,P39210 10 |
| Generalized osteosclerosis 0.8766104236244034 1.2744126361673458 0.2025172163927111 1.0 0.712633570475162 3 Q15392 1 |
| Abnormality of the odontoid process 0.6070186295631474 1.2742993533262628 0.2025573456130951 1.0 0.712633570475162 7 P08236,P16278,O95831 3 |
| Myoclonic absence seizure 0.8413475381514584 1.270234780332487 0.2040010120601623 1.0 0.7155443353530164 2 P11166 1 |
| Multiple prenatal fractures 0.5760376116169484 1.2684060884749424 0.2046529684729869 1.0 0.7164583790415313 8 Q32P28,O75718,Q14739 3 |
| Abnormality of circulating adrenocorticotropin level 0.5400386824944564 1.2668682973569787 0.2052023861825422 1.0 0.7164583790415313 10 Q13423 1 |
| Thickened calvaria 0.540016402195212 1.2667417749350338 0.2052476374504128 1.0 0.7164583790415313 10 Q15233,P48651,P16278,Q7RTS9 4 |
| Brittle hair 0.4845108780136814 1.2664792939117986 0.2053415380069505 1.0 0.7164583790415313 16 Q6PGP7,O75844,Q9Y487 3 |
| Supraventricular arrhythmia 0.473356951623304 1.26287312975523 0.2066347779568502 1.0 0.7194679206201615 18 Q9BTV4,P00846,P02545,P50402 4 |
| Spondyloepimetaphyseal dysplasia 0.5572132907513988 1.262609628837572 0.2067295057652254 1.0 0.7194679206201615 9 Q7RTS9,O95831,Q96HY6 3 |
| Color vision defect 0.4835310272944024 1.2599149542851276 0.2077000434754361 1.0 0.7214353043380145 16 Q9H6K4,O60313,Q9H061,Q6P4Q7 4 |
| Dyskinesia 0.3359378519981475 1.2585971574498174 0.2081758742805488 1.0 0.7215472010322347 71 P04062,Q96RL7,O75569,Q9UBX3,Q86SQ9,Q9H2C2,Q9BTV4,Q01105,Q9P0J0,Q9BPX6,P00846,O43464,Q9NZ01,P11166,O43819,Q96N66 16 |
| Angiokeratoma 0.872407834101385 1.2584572622163006 0.208226434095474 1.0 0.7215472010322347 3 P16278,P04066 2 |
| Cerebral inclusion bodies 0.4932218045479627 1.257816720760078 0.2084580471606232 1.0 0.7215472010322347 15 P61916,P04062,P22626,P05067,O15118,O96008,P31483 7 |
| Abnormal scapula morphology 0.3720263979488765 1.257769606589364 0.2084750905199626 1.0 0.7215472010322347 51 Q9Y487,P02545,Q14739,O15357,Q9UM00,Q9BTV4,Q14999,P06753,P50402,P07196,O60313,P62847,Q7RTS9,P16435,Q9Y619,P46783,Q15738 17 |
| Corpus callosum atrophy 0.4929093924865803 1.255786613471059 0.2091933463332753 1.0 0.722354679610085 15 O75503,Q9H9P8,P20700,O60313,P51970,P51572 6 |
| Impaired vibration sensation in the lower limbs 0.4924209128733092 1.2526120639728793 0.2103469222714313 1.0 0.725743764508564 15 Q9NR77 1 |
| Abnormal delivery 0.4449086330988551 1.2478647589572611 0.2120805882431569 1.0 0.7302240826508635 22 Q9Y487,P02545,O60313,O75844,O75718,Q9Y619 6 |
| Retrocollis 0.8695276497695877 1.247526737289304 0.2122044227819373 1.0 0.7302240826508635 3 Q99720,P35637 2 |
| Chronic infection 0.5363106353057656 1.2456898878013551 0.2128782675237834 1.0 0.7303093153156802 10 P06748,Q9H0U3,P51798,Q6UN15 4 |
| Reduced brain n acetyl aspartate level by mrs 0.86889487064643 1.2451257968304648 0.213085512974321 1.0 0.7303093153156802 3 P07602 1 |
| Abnormal brain choline level by mrs 0.86889487064643 1.2451257968304648 0.213085512974321 1.0 0.7303093153156802 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.86889487064643 1.2451257968304648 0.213085512974321 1.0 0.7303093153156802 3 P07602 1 |
| Acute coronary syndrome 0.4583022919071088 1.243223024939916 0.2137856602728942 1.0 0.732168588722213 20 P01889,P02545,Q9NZ08,O75844,P06280 5 |
| Abdominal pain 0.3277618267824055 1.2425852928198675 0.2140206922559864 1.0 0.7324333786564488 89 Q92621,Q8NFH4,Q13423,Q9NZ08,Q14108,Q9UGP8,P01889,Q70HW3,P21912,P35637,Q01844,Q5HYI8,P06280,O15460,P36551,Q9Y4P3,P04062,P42892,P14174,Q8N1F7,P23786 21 |
| Duplication of hand bones 0.3357902356093186 1.2410378833144795 0.2145917545021269 1.0 0.7338469130396743 64 O43924,Q14739,P21964,O96028,Q9UHX1,Q9UM00,Q7Z4L5,P98175,Q8WVQ1,P46783,O95202,Q15125,O75845,Q15067 14 |
| Impaired antigen specific response 0.5349938127341874 1.2382055451053453 0.2156398559916914 1.0 0.7363466847245699 10 P00813,Q9BV10 2 |
| Gangrene 0.5166011499724408 1.2364333102257428 0.2162975407374643 1.0 0.737054759747314 12 P01889,O15460,Q9NZ08,Q6UN15,P06748 5 |
| Weakness of muscles of respiration 0.3888330847100241 1.2361703510713222 0.2163952490125482 1.0 0.737054759747314 36 P02545,Q13510,P22626,Q9BTV4,P50402,Q7RTS9,P12235,O95831,Q15067 9 |
| Short palpebral fissure 0.4004717505529699 1.2359367878513754 0.2164820612177727 1.0 0.737054759747314 28 P02545,Q9UHX1,Q03164,P55795,O75844,Q9Y619 6 |
| Abnormality of somatosensory evoked potentials 0.8663290164836708 1.2353922211460575 0.2166845664475687 1.0 0.7372037557381019 3 Q9NQZ5 1 |
| Foot dorsiflexor weakness 0.3908220590572393 1.2325746633341714 0.2177344946025239 1.0 0.7392266720058566 33 Q9NR77,Q14739,P02545,Q99720,O15269,P07196,Q9BQT8,P05023,O43819,P39210 10 |
| Abnormality of the radioulnar joints 0.7638377091520938 1.2319389067065305 0.2179719063804583 1.0 0.7392266720058566 4 Q8WVQ1,P16435 2 |
| Radioulnar dislocation 0.7638377091520938 1.2319389067065305 0.2179719063804583 1.0 0.7392266720058566 4 Q8WVQ1,P16435 2 |
| Micromelia 0.4077135470514005 1.2301714895711793 0.2186328937808836 1.0 0.7392266720058566 27 Q15392,Q14739,Q9UHX1,Q7Z4L5,O75718 5 |
| Glossitis 0.8315577310682459 1.2299408249511183 0.2187192649878726 1.0 0.7392266720058566 2 P01889 1 |
| Gastrointestinal infarctions 0.8315577310682459 1.2299408249511183 0.2187192649878726 1.0 0.7392266720058566 2 P01889 1 |
| Vaginal atresia 0.8312697955657993 1.2287569752048366 0.219162937285742 1.0 0.7392266720058566 2 P16435 1 |
| Axonal degeneration 0.597381925576194 1.2264028478062574 0.2200471148891132 1.0 0.7392266720058566 7 Q6DKK2 1 |
| Fatigue 0.327741046291766 1.22632299864058 0.2200771499400358 1.0 0.7392266720058566 87 Q13423,Q9NZ08,Q9NZJ7,O60313,Q15165,P50416,P01889,Q70HW3,P21912,P35637,Q53H12,Q5HYI8,P12235,P06280,O15460,P07602,P04062,Q14739,P06753,Q92804 20 |
| Diplopia 0.4492559624080136 1.2261804449439455 0.220130778445893 1.0 0.7392266720058566 21 P04062,P01889,O14773,Q9NW15,P11166 5 |
| Spastic paraparesis 0.4418847198610946 1.224539619434368 0.2207487298702748 1.0 0.7400358898456519 22 Q6DKK2,P04062,Q5XKP0,Q9H6K4,Q9Y619 5 |
| Distal lower limb amyotrophy 0.5060287350334574 1.2229850228444503 0.2213353532143978 1.0 0.7400866973791042 13 P07196,Q9NR77 2 |
| Limb myoclonus 0.6664013565177738 1.222549273903229 0.221499982329457 1.0 0.7400866973791042 5 Q13510 1 |
| Pleuritis 0.7611850363061782 1.2211490455521907 0.2220295927142861 1.0 0.7400866973791042 4 Q9NZ08 1 |
| Orchitis 0.7611850363061782 1.2211490455521907 0.2220295927142861 1.0 0.7400866973791042 4 Q9NZ08 1 |
| Prominent nasolabial fold 0.6250213048288025 1.219337655719566 0.222716062004084 1.0 0.7400866973791042 6 Q8NCH0 1 |
| Abnormality of the nasolabial region 0.6250213048288025 1.219337655719566 0.222716062004084 1.0 0.7400866973791042 6 Q8NCH0 1 |
| Deposits immunoreactive to beta amyloid protein 0.828966311546221 1.2192890346135583 0.2227345090426666 1.0 0.7400866973791042 2 P05067 1 |
| Finger agnosia 0.828966311546221 1.2192890346135583 0.2227345090426666 1.0 0.7400866973791042 2 P05067 1 |
| Global brain atrophy 0.4410311126262168 1.217951611047985 0.2232423616527243 1.0 0.7400866973791042 22 Q9UHX1,Q9H9P8,P07602,Q9NZJ7,P35637,O43819 6 |
| Tritanomaly 0.8615253555350141 1.217178817092154 0.2235361878996684 1.0 0.7400866973791042 3 Q9H6K4 1 |
| Anomalous trichromacy 0.8615253555350141 1.217178817092154 0.2235361878996684 1.0 0.7400866973791042 3 Q9H6K4 1 |
| Abnormal urine protein level 0.3552550731665168 1.2170432073087123 0.2235877770075114 1.0 0.7400866973791042 57 P04062,Q03252,P09601,Q14108,O75431,P21912,Q9Y4P3,Q8N1F7,O95721,O95470,P00403,P06280 12 |
| Absence of pubertal development 0.6243856826996914 1.2163442600908634 0.2238538078003833 1.0 0.7404395181089602 6 O75844 1 |
| Emg myopathic abnormalities 0.3898495422345297 1.215723530388188 0.2240902574207757 1.0 0.7406940608271049 31 P02545,P22626,Q9BTV4,P13473,P06753,P53007,P50402,P07196,P51114,Q96RR1,P12235,P31483,Q13501 13 |
| Impaired tactile sensation 0.5653236429201409 1.2120230855487155 0.2255035437931276 1.0 0.7417949016126805 8 Q9NR77,P39210 2 |
| Oval face 0.5944705842108085 1.2119241152927185 0.2255414300338296 1.0 0.7417949016126805 7 Q9UHX1 1 |
| Postural instability 0.4601812113130034 1.2112537147214533 0.2257981819232903 1.0 0.7421137698880117 19 Q9NR77,O43464,O75503,P04062 4 |
| Centrocecal scotoma 0.7584717261984869 1.210114811807451 0.2262348403257825 1.0 0.7430230540826975 4 P00846 1 |
| Cupped ear 0.4947614101938088 1.2075756953364076 0.2272105126544199 1.0 0.7457000853477923 14 Q15392,P42892,Q9Y2B2 3 |
| Raynaud phenomenon 0.5933451417860607 1.206326235062754 0.2276917258071147 1.0 0.7461939694131507 7 O75844,Q14739 2 |
| Demyelinating peripheral neuropathy 0.4593291915336156 1.2051462471717855 0.2281468490235429 1.0 0.7461939694131507 19 Q9NR77,P00846,O15121 3 |
| Macroglossia 0.3873209566101349 1.2051405257196206 0.2281490573743694 1.0 0.7461939694131507 34 Q7LGA3,Q10713,P16278,Q96A33,P21912,O75648,P61978,Q9Y4P3,O00754,P04066 10 |
| Short lingual frenulum 0.7572385731858797 1.2051007973986458 0.2281643920255542 1.0 0.7461939694131507 4 O75844 1 |
| Visual field defect 0.3767837553953376 1.2046542440026446 0.2283368067412134 1.0 0.7462323226644584 44 P56589,Q9H061,P01889,Q9H6K4,P04439,P00846,O60313,O75381,P40855,P00403 10 |
| Microretrognathia 0.4647854873318059 1.2028677240680967 0.2290275120689289 1.0 0.746554013180013 18 Q15125,Q8NCH0,Q9UHX1 3 |
| Abnormality of the synovia 0.3255647843510574 1.2016576730351558 0.2294961866591052 1.0 0.746554013180013 88 Q9Y584,Q03252,P08236,Q9Y487,P02545,Q9UHX1,O96028,Q9Y2B2,P16278,Q96A33,Q8WVQ1,Q7RTS9,P16435,O75844,O75718,O95202 16 |
| Short chin 0.5196967280158181 1.2007725273386498 0.2298394514256898 1.0 0.746554013180013 11 O75844 1 |
| Gastric ulcer 0.8570771641670933 1.20032526156274 0.2300130425757398 1.0 0.746554013180013 3 P04062 1 |
| Joint dislocation 0.3238121110709932 1.2002141243515487 0.2300561912008698 1.0 0.746554013180013 91 Q9NX62,Q9Y487,Q8NCH0,Q9UHX1,P21964,P02545,O96028,Q96L58,Q9Y2B2,Q96A33,Q8WVQ1,P51571,O75844,O95202,Q15125,P51798,Q9Y619 17 |
| Abnormal atrioventricular valve physiology 0.3587273364408922 1.199876707971657 0.2301872271708285 1.0 0.746554013180013 55 Q15233,P04062,P01889,P02545,Q15904,Q96L58,Q9NZ08,O75431,P53701,Q9Y4P3,P36543,Q6NUK1,O00754,O75844,O43819,P06280 16 |
| Lagopthalmos 0.8566508667223468 1.1987107439997284 0.2306404389043317 1.0 0.746554013180013 3 O75844 1 |
| Disproportionate short trunk short stature 0.6609195517501687 1.1980998279499886 0.2308781558331305 1.0 0.746554013180013 5 P16278,Q9UHX1 2 |
| Abnormality of thalamus morphology 0.4640531613199585 1.1977351815338408 0.2310201283700421 1.0 0.746554013180013 18 P49792,Q969G3,Q96RR1,Q9GZY8,P11166,O43819 6 |
| Spastic diplegia 0.4253684509569643 1.1963044308327284 0.2315777803229122 1.0 0.746554013180013 24 Q99720,P07602,P51648,Q9NZJ7 4 |
| Increased serum lactate 0.3092627957777767 1.1961513718756736 0.2316374934117082 1.0 0.746554013180013 110 Q7KZN9,Q9UBX3,Q86VD7,Q9P0J0,Q9NWS8,O75880,P00846,O43464,P13073,Q96CU9,P00403,O14949,Q70HW3,P21912,Q53H12,P12235,O43819,Q3ZCQ8,Q9Y584,P35610,Q6P4A7,Q86Y39,Q8IUX1,Q9Y6M9,P14927,O95831,Q5JRX3,P51970,Q9NVI7,Q5XKP0 30 |
| Primary adrenal insufficiency 0.4928690241310299 1.1956136889662294 0.2318473470102948 1.0 0.746554013180013 14 Q13423,P40855,O75381,P16435 4 |
| Varicose veins 0.591006337842827 1.1946919643693243 0.2322074031633776 1.0 0.746554013180013 7 P04062 1 |
| Venous insufficiency 0.591006337842827 1.1946919643693243 0.2322074031633776 1.0 0.746554013180013 7 P04062 1 |
| Axonal degeneration regeneration 0.6599018510064457 1.193561090035989 0.2326497020852844 1.0 0.746554013180013 5 Q6UWE0,Q8TB36,P02545 3 |
| Neurodegeneration 0.3871714940003741 1.190721224853245 0.2337630427456194 1.0 0.746554013180013 31 Q6DKK2,P17900,P08236,Q92804,Q15165 5 |
| Increased susceptibility to fractures 0.3387104632075958 1.1905087481216725 0.2338464937018698 1.0 0.746554013180013 62 P04062,P04637,Q14739,Q32P28,P22626,O15269,Q96L58,P07237,P06753,Q13724,Q13126,P16435,Q9NZ71,O75718,Q14108,O75845,P51798,P39210 18 |
| Transposition of the great arteries 0.5897956638493609 1.1886689788171048 0.2345699523134807 1.0 0.746554013180013 7 O75844,P02545 2 |
| Abnormal lumbar spine morphology 0.5262586502148228 1.1885162096306563 0.2346300974550512 1.0 0.746554013180013 10 P04062,O75845 2 |
| Bilateral tonic clonic seizure with focal onset 0.853917305589921 1.1883608485171189 0.2346912742378226 1.0 0.746554013180013 3 P07602 1 |
| Diarrhea 0.3288268256347687 1.186319544475425 0.2354961311124617 1.0 0.746554013180013 78 P42892,P01889,Q13510,Q9BT22,Q15904,Q13423,Q96A33,P54802,P15586,P36551,P00813,O43464,Q6PGP7,Q5HYI8,P78536,P00403,P06280 17 |
| Impaired mastication 0.6180103589759973 1.1863168829450377 0.2354971817892179 1.0 0.746554013180013 6 O15460,P01889 2 |
| Abnormal circulating methionine concentration 0.6179318875510362 1.1859472633170156 0.2356431265861047 1.0 0.746554013180013 6 P55263,Q9UJS0,Q6PGP7 3 |
| Punctate cataract 0.8531972731828636 1.1856355085764063 0.2357662731022196 1.0 0.746554013180013 3 Q9H6K4 1 |
| Abnormal oral mucosa morphology 0.3383075824782474 1.1852097170909863 0.2359345389272089 1.0 0.746554013180013 62 P04062,P08236,P01889,Q14739,Q9UM00,Q9NZ08,P20700,P16278,O75431,Q9NZ71,Q9Y4P3,P53634,O00754,Q15392,Q14108,O75845 16 |
| Abnormal talus morphology 0.456544571391259 1.1851772775501273 0.2359473619846106 1.0 0.746554013180013 19 Q5SRE5,P02545,Q9UHX1,Q15058,Q14999,P98175,Q99567,Q9UPT5,Q9NXE4,P16435,O75844 11 |
| Abnormal optical coherence tomography 0.8203282464727951 1.183833262680942 0.2364790723391006 1.0 0.746554013180013 2 P04439 1 |
| Photoreceptor layer loss on macular oct 0.8203282464727951 1.183833262680942 0.2364790723391006 1.0 0.746554013180013 2 P04439 1 |
| Telangiectasia 0.379938433975431 1.1837438317133508 0.2365144824713558 1.0 0.746554013180013 39 Q14739,P02545,P10619,Q9Y2B2,Q8IZA0,P21912,P00846 7 |
| Abnormality of fundus pigmentation 0.6576450944982847 1.183497019094622 0.2366122272139046 1.0 0.746554013180013 5 Q9Y619 1 |
| Abnormality of the posterior pituitary 0.5425928236850791 1.182663552930535 0.2369425143163845 1.0 0.746554013180013 9 Q8WWQ0,O76024,Q969G3,Q9UHX1 4 |
| Abnormality of bladder morphology 0.5250607884222284 1.181697405839396 0.2373257880376211 1.0 0.746554013180013 10 Q9NWM8,P16435 2 |
| Cardiovascular calcification 0.5248159412403957 1.1803034968745048 0.2378795278537728 1.0 0.7474374339329642 10 O75844,P04062,P02545 3 |
| Abnormal platelet volume 0.5418148277079864 1.178405402027709 0.2386350251456792 1.0 0.7493042980233499 9 O75845,Q14739 2 |
| Joint subluxation 0.6158968866194227 1.176361863035679 0.2394503046375877 1.0 0.7503422501598904 6 P16278,Q9UHX1 2 |
| Peripheral hypermyelination 0.8503535122985271 1.1748755256604078 0.2400445184811857 1.0 0.7511382449564158 3 Q9NR77 1 |
| Status epilepticus 0.3664287807953534 1.174725468213357 0.2401045667515604 1.0 0.7511382449564158 50 Q03252,P42892,Q9Y487,Q13510,Q86SQ9,Q9H2C2,P07602,Q01105,Q9NZJ7,P53701,P51970,P05023,Q15392,P11166,Q3ZCQ8 15 |
| Prenatal maternal abnormality 0.506109288137443 1.173705409676259 0.2405130426895327 1.0 0.7511382449564158 12 P16435,Q14739,O43772 3 |
| Abnormality of metacarpal epiphyses 0.6149905262490758 1.172092668608867 0.2411598530507113 1.0 0.7526521220211716 6 O95202,P16435 2 |
| Unilateral renal agenesis 0.428551701489526 1.1694675105470829 0.2422153237764748 1.0 0.7549315192066772 23 Q7LGA3,Q86XL3,Q9UHX1 3 |
| Biliary cirrhosis 0.5850704936894038 1.165159292505065 0.2439545199033008 1.0 0.7590130383572599 7 P09601 1 |
| Abnormality of the fetal cardiovascular system 0.6134867215502364 1.1650094352857403 0.2440151736148554 1.0 0.7590130383572599 6 P16435 1 |
| Anorexia 0.3843836981803645 1.1634291726939296 0.2446554191170671 1.0 0.7592025334576292 30 P35610,P04062,P01889,Q13423,Q9NZ08,Q5HYI8,Q14108,P06280 8 |
| Limited wrist movement 0.7469524816498359 1.1633035246782262 0.244706376134838 1.0 0.7592025334576292 4 O75844,Q9H6K4 2 |
| Weight loss 0.326874521371899 1.1632452414810903 0.2447300156300755 1.0 0.7592025334576292 79 P04062,P42892,Q96RL7,P01889,P02545,Q99720,Q13423,P07602,Q9NZ08,Q06136,Q9NZJ7,P35637,O75844 13 |
| Unusual infection by anatomical site 0.4872873999223824 1.1603100175789278 0.2459226073800118 1.0 0.7618843153254001 14 Q9NZ08,Q9H9P8,P01889,Q14739 4 |
| Neoplasm of the small intestine 0.611363217214475 1.155007616613846 0.2480873074319523 1.0 0.7653113638542917 6 P02545 1 |
| Abnormal lung lobation 0.4946881739519057 1.1532819924619793 0.2487946588975258 1.0 0.7654909051255536 13 Q14739,Q9UHX1 2 |
| Mitochondrial respiratory chain defects 0.6106016645490566 1.1514208012016618 0.2495591602909508 1.0 0.7654909051255536 6 O75648,P00846,P03915 3 |
| Gingival overgrowth 0.3910101769882322 1.1513907351687498 0.2495715236487994 1.0 0.7654909051255536 28 P08236,Q14739,Q9UM00,P20700,P16278,Q6UN15,P06748,Q9Y4P3,O00754,O75845 10 |
| Ectopic anus 0.4672447373784786 1.150584626814279 0.249903160485069 1.0 0.7654909051255536 16 P48651,Q9Y2B2,P16435 3 |
| Brushfield spots 0.8436059907834104 1.149370470153254 0.2504032511914706 1.0 0.7654909051255536 3 P40855,O75381 2 |
| Abnormality of the calf musculature 0.4765488892704269 1.1492813341091137 0.2504399923429754 1.0 0.7654909051255536 15 Q9NR77,Q96RL7 2 |
| Brachydactyly 0.3247632725102017 1.1489542472390455 0.2505748471361815 1.0 0.7654909051255536 82 O43924,Q9NX62,P48651,Q14739,P02545,Q9UHX1,Q7Z4L5,Q06136,Q8WVQ1,Q7RTS9,P16435,P11166,Q13555,O95831 14 |
| Desquamation of skin soon after birth 0.6496282216709262 1.1477559728683977 0.2510693172506588 1.0 0.765649414996407 5 P04062 1 |
| Increased ldl cholesterol concentration 0.5190113829866796 1.147247920081663 0.2512791715852551 1.0 0.765649414996407 10 Q8N511,P02545,P50402 3 |
| Hyperlipoproteinemia 0.5190113829866796 1.147247920081663 0.2512791715852551 1.0 0.765649414996407 10 Q8N511,P02545,P50402 3 |
| Hypoplasia of the radius 0.5188600945571147 1.146386140566625 0.2516354147203596 1.0 0.765649414996407 10 Q9BV10 1 |
| Furrowed tongue 0.6092574841955969 1.1450901181502031 0.252171828538569 1.0 0.7659162666665236 6 P21912 1 |
| Abnormal pelvis bone morphology 0.8422600856280624 1.1442877253135244 0.2525043321099889 1.0 0.76592430980979 3 P16435 1 |
| Ambiguous genitalia male 0.8419485401869639 1.1431114230318529 0.2529923321289953 1.0 0.7664033857841188 3 Q15392 1 |
| Thin clavicles 0.7416922950469651 1.141951350463129 0.2534742421995428 1.0 0.7670395259868081 4 O75844 1 |
| Abnormal aortic valve physiology 0.3757833979856735 1.1418108296220055 0.2535326598599807 1.0 0.7670395259868081 39 P04062,P02545,Q9UHX1,Q9NZ08,P16278,Q6PGP7,O75844,Q15125 8 |
| Peptic ulcer 0.5094148599807923 1.1407846160139847 0.2539595640520851 1.0 0.7678308694387259 11 P04062,O76024 2 |
| Abnormality of subcutaneous fat tissue 0.4607506043000068 1.1385437728600047 0.2548934916845162 1.0 0.7682751583094451 17 O75844,Q9Y487,P02545 3 |
| Short ribs 0.4838222598347625 1.138379801075175 0.2549619247004182 1.0 0.7682751583094451 14 Q14739,Q14999,Q7Z4L5,Q9BV10,Q96HY6,Q9Y619,Q15738 7 |
| Abnormal sharpey fiber morphology 0.6474054492545973 1.1378504004110002 0.2551829553115659 1.0 0.7682751583094451 5 P02545 1 |
| Polydactyly 0.3555055789332154 1.1354019147575074 0.2562069577849835 1.0 0.7684521363534461 54 O43924,Q14739,P21964,O96028,Q9UHX1,Q9UM00,Q7Z4L5,P98175,P61978,O95202,Q15125,O75845,Q15067 13 |
| Abnormality of hair texture 0.3554340783400697 1.1345580191007854 0.2565605512151405 1.0 0.7684521363534461 54 Q9Y487,Q9Y2B2,Q96A33,P54802,P15586,Q6PGP7,O75844,Q15125,P51798,P55795 10 |
| Abnormal nervous system electrophysiology 0.330217970371548 1.134549684855948 0.2565640449640176 1.0 0.7684521363534461 190 Q9NR77,P02545,Q9BQE5,Q9UBX3,P50897,Q9NZJ7,Q9BSJ2,O60313,P13073,Q9GZY8,O15121,P00403,Q14108,O95202,P40855,P56589,Q96RL7,O96028,Q86SQ9,Q99720,Q9H2C2,Q9Y2B2,Q96A33,Q9NZ01,P11166,O75381,Q96N66,Q15067,O75503,P07602,P20700,P07196,Q8N2K0,Q9Y619,Q15125,O95831,P39210,P21964,O15269,O14773,Q9NQZ5,O95721 42 |
| Dyspnea 0.3073194707317589 1.1340956136675535 0.2567544433607662 1.0 0.7684521363534461 108 Q8TCJ2,P02545,Q9NZJ7,Q13724,P00846,P51571,P00387,Q15165,P01889,Q96L58,P35637,O75844,P12235,O43819,P06280,Q13510,Q9UHX1,P07602,P53007,O75648,Q96RR1,Q9Y619,O95831,Q92804,P04062,P16219,P10253,P53701,P51970,P23786,Q9NZ71 31 |
| Stroke 0.3803587371189085 1.133116973878261 0.2571651341860608 1.0 0.7684521363534461 33 P02545,Q96L58,P05067,O76024,O75844,O95721,P00403,P06280 8 |
| Small placenta 0.8392097253997184 1.1327743719861274 0.2573090163715781 1.0 0.7684521363534461 3 O75844 1 |
| Short umbilical cord 0.8392097253997184 1.1327743719861274 0.2573090163715781 1.0 0.7684521363534461 3 O75844 1 |
| Patchy alopecia 0.8392097253997184 1.1327743719861274 0.2573090163715781 1.0 0.7684521363534461 3 O75844 1 |
| Abnormal circulating copper concentration 0.6461084196958402 1.1320713495627903 0.2576044389124068 1.0 0.7687088912074378 5 Q15904,Q9Y487 2 |
| Abnormal spermatogenesis 0.4826055088471722 1.1306773221060518 0.2581909297311364 1.0 0.7687088912074378 14 Q13423,P04062 2 |
| Hand muscle weakness 0.5076803205473308 1.1306590477892269 0.2581986241865786 1.0 0.7687088912074378 11 Q9NR77 1 |
| Decreased circulating total igm 0.5328588686256279 1.129370958627706 0.2587413785465369 1.0 0.7687255996330681 9 Q15904,Q13724,P00813,Q9Y2Q5 4 |
| Stroke like episode 0.6454229976441954 1.1290177136682331 0.2588903612890005 1.0 0.7687255996330681 5 P51970,P00403,O76024 3 |
| Hyporeflexia 0.3107881859887865 1.125585826754948 0.2603408700580552 1.0 0.7720453387928533 124 Q9NR77,P02545,Q9NZJ7,Q9NWS8,P00846,P41440,Q96RL7,Q86SQ9,Q99720,Q9H2C2,P35637,P12235,Q15067,Q9HC21,P35610,Q10713,P07602,P54802,P07196,Q8N2K0,P05023,O43681,O14979,O95831,P39210,P04062,O15269,P06753,O43505 29 |
| Supernumerary tooth 0.548826757865897 1.1251022099804686 0.2605457249480758 1.0 0.7721597617478393 8 Q9UHX1 1 |
| Malrotation of small bowel 0.7371124885798284 1.123376431329871 0.2612776552359797 1.0 0.7736031382877293 4 O95202,Q8NCH0 2 |
| Abnormal mitral valve physiology 0.3703914712853744 1.1222009667484194 0.2617770016982121 1.0 0.7736031382877293 42 P04062,P01889,P02545,Q96L58,Q9NZ08,O75431,P53701,O75844,P06280 9 |
| Amelogenesis imperfecta 0.8359112096361971 1.120334519967498 0.2625712370210673 1.0 0.7737588741167047 3 Q9HC07 1 |
| Premature loss of teeth 0.4970794069751647 1.1196531937331955 0.2628615782189636 1.0 0.7737588741167047 12 O75844,P51798 2 |
| Abnormal circulating fatty acid concentration 0.4411134067127492 1.1169552622580028 0.2640134542093835 1.0 0.7757975662305159 20 P56589,O43772,O75431,P16219,O75880,O75381,P23786,P40855 8 |
| Abnormal midbrain morphology 0.530571524741616 1.1168447650506264 0.264060704843545 1.0 0.7757975662305159 9 P04062 1 |
| Absence of subcutaneous fat 0.6022138514664324 1.1119242251994723 0.2661707318363024 1.0 0.7788890224623747 6 O75844 1 |
| Lower limb amyotrophy 0.4612689896985578 1.1103923289248572 0.2668300023583292 1.0 0.7803265308262474 16 P07196,Q9NR77,P02545 3 |
| Prolonged partial thromboplastin time 0.6016434633829132 1.1092392185299371 0.2673269980691306 1.0 0.7812879666664837 6 P38435,P49257,Q9BV10 3 |
| Cranial asymmetry 0.6014467410932418 1.1083132129488047 0.2677265711059318 1.0 0.7814721534983954 6 O95202,P40855 2 |
| Hyperacusis 0.5734265037590273 1.1072263871996637 0.2681960616995003 1.0 0.7816918752150624 7 P17900 1 |
| Abnormal chorioretinal morphology 0.3780686803526935 1.105446129957346 0.2689663245873801 1.0 0.781693962945452 29 P56589,Q5XKP0,P04439,O43505,P53701,O75381,Q9Y619,P40855 8 |
| Aplasia hypoplasia involving the metacarpal bones 0.3858731941594608 1.105412648974379 0.268980825320162 1.0 0.781693962945452 28 Q9NX62,Q32P28,Q14739,Q8WVQ1,Q7RTS9,P16435 6 |
| Recurrent pharyngitis 0.8317972350230435 1.1048350542517134 0.2692310681429477 1.0 0.7816980674476195 3 P01889,Q9BV10 2 |
| Coxa valga 0.426342966258373 1.104393204348483 0.2694226073838153 1.0 0.7816980674476195 22 P02545,P16278,Q96A33,Q8WVQ1,O75844,Q9Y619,P04066 7 |
| Angina pectoris 0.7322053195937772 1.1034921981810086 0.2698134777706831 1.0 0.7821559243240027 4 O75844,P02545 2 |
| Atrophy degeneration involving the spinal cord 0.527688597863878 1.1010567592491485 0.2708719548813625 1.0 0.7847344719083266 9 P07196,P20700,Q13217 3 |
| Eeg with irregular generalized spike and wave complexes 0.8306271330289925 1.100430041080154 0.2711447954379222 1.0 0.7849389253646091 3 Q9NQZ5 1 |
| Abnormal bleeding 0.3043647460075799 1.0995278046629415 0.2715379128902699 1.0 0.7850241071494477 109 P02545,Q02978,Q9NZ08,P36543,Q6ZXV5,Q14108,Q9UGP8,Q9UJS0,Q9Y487,P01889,Q96L58,P05067,O76024,P21912,Q13126,P16930,O75844,Q9NWM8,P51798,Q9UHX1,O15460,P11117,P49257,P49711,P04062,Q14739,Q8NCH0,P21964,P49792,P38435,P23786 31 |
| Intestinal malrotation 0.376747000776381 1.0987346673596383 0.2718838165397645 1.0 0.7850241071494477 33 Q14739,Q8NCH0,P21964,Q9BV10,Q15392,O95202 6 |
| Delayed epiphyseal ossification 0.7302070746965431 1.0954011958577756 0.2733409104393494 1.0 0.7858148578436763 4 Q9UG56,Q96HY6 2 |
| Deep plantar creases 0.5986563482023048 1.095180262399134 0.2734376709846344 1.0 0.7858148578436763 6 Q9Y487 1 |
| Decreased ldl cholesterol concentration 0.8290213337141601 1.0943873093896253 0.2737851474186414 1.0 0.7858148578436763 3 Q15800 1 |
| Abnormal abdomen morphology 0.3331985639332088 1.0938421858008944 0.2740241985927478 1.0 0.7858148578436763 235 O43676,P08236,P02545,Q9NPL8,Q9NZ08,P16278,Q9NZJ7,P15586,Q9NWS8,O75880,P00846,Q6PGP7,Q96CU9,P40855,Q14108,Q9UGP8,P04066,P56589,Q96RL7,P50416,P01889,Q86SQ9,P09601,Q96A33,P28070,Q9H0U3,Q01844,Q5HYI8,P11166,O75381,O96000,P51798,Q15067,Q9HC21,P35610,Q13510,O43772,Q86Y39,Q15904,P07602,Q8IUX1,O75431,P54802,Q9Y6M9,P36551,Q9Y619,P14927,Q15392,O75845,P33991,P39210,Q9HC07,P04062,Q14739,P21964,Q9BT22,P00374,P10619,O15118,P00813,Q9NVI7,Q96HY6,P23786 63 |
| Abnormality of the musculature of the upper limbs 0.3238942888818955 1.0936204827893126 0.2741214620384917 1.0 0.7858148578436763 72 Q9NR77,Q9Y487,P02545,Q9BTV4,P07602,O14979,P46783,Q9NZJ7,P07196,P50402,O60313,P12235,Q9BQT8 13 |
| Limited elbow extension 0.4926560420086582 1.0931645180561784 0.2743215727029802 1.0 0.7859033828702282 12 Q9H6K4,Q7RTS9,P16435 3 |
| Paraplegia paraparesis 0.318226224923313 1.0919521950485531 0.2748541139836928 1.0 0.7866570154088633 88 Q6DKK2,P04062,Q7KZN9,Q5XKP0,Q13510,Q9H6K4,Q96L58,Q9P0J0,P21912,P35637,P00846,O60313,Q9Y619,Q96CU9,P11166,O95831 16 |
| Arterial thrombosis 0.5421998485102958 1.0901793405499596 0.2756341519982259 1.0 0.7866570154088633 8 O15460,Q9NZ08,P01889 3 |
| Abnormal protein glycosylation 0.4536085259837752 1.089475427178201 0.2759442852610014 1.0 0.7866570154088633 17 O75340,Q10471,Q9Y487,Q9BT22,Q15904,Q8N511,P36543,Q9H0U3,P51571 9 |
| Tinnitus 0.467371374079322 1.08942517649255 0.2759664340286638 1.0 0.7866570154088633 15 Q9NR77,O95831,Q9NR28 3 |
| Transient ischemic attack 0.569781400255677 1.0890970506121722 0.2761110904001187 1.0 0.7866570154088633 7 O75844,P02545 2 |
| Abnormality of endocrine pancreas physiology 0.635812333430182 1.0862305693375975 0.2773769958908791 1.0 0.7866570154088633 5 Q14739 1 |
| Abnormal circulating dicarboxylic acid concentration 0.365512758953108 1.085175141970738 0.2778440916840605 1.0 0.7866570154088633 44 P55263,Q9UJS0,O14678,Q14739,Q9H9P8,P37268,O75648,P11166,P36551,P41440,P23786,P28288,P40855,Q9UGP8,O75845 15 |
| Microglossia 0.6355434226176546 1.0850342878602597 0.2779064693443822 1.0 0.7866570154088633 5 P48651 1 |
| Aplasia hypoplasia of the skin 0.3419781521546525 1.084987900107887 0.2779270143849566 1.0 0.7866570154088633 58 P48651,P02545,O96028,Q8NCH0,Q9NWM8,O75431,P53701,O75844,Q15392,O95202,Q15125,Q9Y619 12 |
| Abnormal cornea morphology 0.3211563212923885 1.0835241474008943 0.278575838625857 1.0 0.7866570154088633 163 P08236,P02545,Q9NZ08,P16278,O95202,P40855,P04066,P56589,P01889,O96028,Q86SQ9,Q96L58,Q9Y2B2,Q06136,Q53H12,O75844,P12235,Q9NWM8,O75381,P06280,Q7LGA3,Q13510,O75569,Q9Y4P3,Q15125,O75845,P39210,P04062,Q14739,Q8NCH0,P21964,P10619,O43505,P53701,P51648,Q9NVI7 36 |
| Failure to thrive 0.327021250878959 1.0830078752083654 0.2788049275297817 1.0 0.7866570154088633 314 O43924,Q7KZN9,O43676,P02545,Q13423,Q9NPL8,Q9P0J0,Q9NZJ7,O75880,P00846,P13073,P51571,Q6PGP7,Q96CU9,O15121,P00403,O95202,P40855,P04066,Q9Y487,Q03164,O96028,Q9H2C2,Q96L58,P21912,P28070,Q7RTS9,O75844,Q15800,P12235,O75381,O96000,P51572,Q15067,Q13510,Q86Y39,Q15904,P46977,P07602,Q8IUX1,P20700,P37268,Q9Y6M9,Q9Y4P3,Q9BV10,Q9Y619,Q15392,P78536,Q15125,Q9BQT8,Q8N5M9,O75845,P55263,Q9HC07,P04062,P42892,P48651,Q14739,P21964,P55795,P33991,P53701,P00813,Q5XKP0,O95721 65 |
| Spondylolisthesis 0.7955657932623084 1.0827343315058982 0.2789263608288761 1.0 0.7866570154088633 2 O00754 1 |
| Hypopigmentation of the skin 0.3509389939288785 1.081484797730026 0.2794815194545741 1.0 0.7866570154088633 54 P21964,P02545,P07602,Q8IZA0,Q9NZJ7,P53701,Q6PGP7,Q15125,P51798 9 |
| Morphological abnormality of the corticospinal tract 0.4745772932399092 1.0798400797300975 0.2802133999426091 1.0 0.7867660395002881 14 P35637,P00846 2 |
| Joint hemorrhage 0.7941261157500803 1.0768865029867354 0.2815309735960074 1.0 0.788083087028245 2 P38435 1 |
| Abnormal morphology of the limbic system 0.5060223114285957 1.0732392851743544 0.2831637685699539 1.0 0.7896685265904468 10 Q96RL7 1 |
| Decreased muscle mass 0.4556472562549897 1.0725622315429828 0.2834675781490319 1.0 0.7896961205303564 16 O95202,Q9Y487,Q8NCH0,P04066 4 |
| Progressive cerebellar ataxia 0.365939078072317 1.071020047094397 0.2841604158003528 1.0 0.7909149058378022 41 Q7KZN9,Q9Y487,Q9P0J0,P35637,O14773,P41440,Q9Y619,Q96CU9,Q9NW15 9 |
| Hyperkinetic movements 0.4970728744204534 1.068724215066018 0.2851939568393409 1.0 0.7909149058378022 11 P07602,Q96RL7 2 |
| Absent nipple 0.7918226317304995 1.0675379067786874 0.2857290057467687 1.0 0.7909149058378022 2 P10586 1 |
| Broad femoral neck 0.7232427028237753 1.0672327251092475 0.2858667584646457 1.0 0.7909149058378022 4 Q8WVQ1,Q7RTS9 2 |
| Ketotic hypoglycemia 0.8217165898617551 1.0669381094260737 0.2859997844838338 1.0 0.7909149058378022 3 Q13423,P53985 2 |
| Fatigable weakness of swallowing muscles 0.4637036795461398 1.0654954790755995 0.2866517703549522 1.0 0.7909149058378022 15 Q92804,Q15165 2 |
| Retinal pigment epithelial mottling 0.8213270945635918 1.0654763860090284 0.2866604060463147 1.0 0.7909149058378022 3 P00846 1 |
| Elevated systolic blood pressure 0.7912467607256086 1.0652023153906665 0.2867843860740686 1.0 0.7909149058378022 2 P42892 1 |
| Elevated mean arterial pressure 0.7912467607256086 1.0652023153906665 0.2867843860740686 1.0 0.7909149058378022 2 P42892 1 |
| Elevated diastolic blood pressure 0.7912467607256086 1.0652023153906665 0.2867843860740686 1.0 0.7909149058378022 2 P42892 1 |
| Wide anterior fontanel 0.4340763636101328 1.0651670903028352 0.2868003233055252 1.0 0.7909149058378022 20 P20674,P56589,Q9Y487,Q32P28,P40855,P16435,O75718,O75381,Q15125 9 |
| Small earlobe 0.5644985267167377 1.0628331095915138 0.2878576416517984 1.0 0.7929252956465567 7 P10586,P21964 2 |
| Abnormal foot bone ossification 0.6304591513494592 1.0624277239592557 0.2880415533496427 1.0 0.7929252956465567 5 Q15125,Q14739 2 |
| Hypoplasia of the musculature 0.6301743690633812 1.061162160306088 0.2886162126153873 1.0 0.7940365470295371 5 Q9NR77 1 |
| Subcutaneous nodule 0.4333862061873368 1.060086812912345 0.2891051065424657 1.0 0.7948337259513012 20 P01889,Q13510,Q9NZ08,P21912,P35637 5 |
| 2 3 toe syndactyly 0.3731085392842987 1.0597721348076723 0.2892482766704778 1.0 0.7948337259513012 29 Q15125,P37268,Q9UHX1 3 |
| Abnormality of carpal bone ossification 0.5909674351743484 1.0590155219417303 0.2895927107515497 1.0 0.7953096089474848 6 Q8WVQ1,Q15125 2 |
| Abnormal sternal ossification 0.7208754743401545 1.0576699435125898 0.2902059426988059 1.0 0.7960522137585675 4 Q9Y619,O95202 2 |
| Hypoplastic pelvis 0.7886553412035721 1.0547000726005689 0.2915625185821511 1.0 0.7971782390359098 2 Q14999 1 |
| Abnormal choroid morphology 0.3726644898023262 1.0546940356139818 0.2915652804872295 1.0 0.7971782390359098 30 P56589,Q5XKP0,P04439,O43505,P53701,O75381,Q9Y619,P40855 8 |
| Abnormality of earlobe 0.3725064539686957 1.05422689198705 0.2917790507663114 1.0 0.7971782390359098 29 Q7LGA3,P21964,P53701,P10586,P16435,Q15392 6 |
| Acne 0.4435008993665144 1.0534594514403952 0.2921304689594108 1.0 0.7971782390359098 18 Q9NZ08,P01889,P21964 3 |
| Multifactorial inheritance 0.4703652418871811 1.0531641051471834 0.2922657865231146 1.0 0.7971782390359098 14 P10321,P42892 2 |
| Joint contracture of the 5th finger 0.7880794701986833 1.0523680324927256 0.2926307294251296 1.0 0.7971782390359098 2 Q9Y2B2 1 |
| Excessive salivation 0.3723962501889702 1.0522036836313953 0.2927061098222221 1.0 0.7971782390359098 30 Q9NR77,Q96RL7,P01889,P15586,P55795 5 |
| Hypotension 0.3798984871206313 1.0518998749110815 0.2928454893277721 1.0 0.7971782390359098 28 P35610,P04062,O43772,Q13423,P07602,P20700,Q9NZJ7 7 |
| Decreased circulating igg level 0.4701056940930987 1.0515203895467462 0.2930196498781865 1.0 0.7971782390359098 14 Q15904,P00813 2 |
| Dysmetria 0.3280823969739742 1.0505563880484787 0.2934623801214449 1.0 0.7979152770983547 62 Q6DKK2,Q6P4A7,O75503,Q8IV08,Q9NPL8,P20700,Q8N2K0,O60313,O14773,P41440,Q9NW15,O15121,Q96D71 13 |
| Abnormal circulating dehydroepiandrosterone concentration 0.7872156636913437 1.0488712175541457 0.294237394162566 1.0 0.7988831473125139 2 Q13423 1 |
| Late onset 0.5017032058159242 1.0486314056985837 0.2943477956571358 1.0 0.7988831473125139 10 P17096,Q9Y6M1,O76024,P43304 4 |
| Hypoplastic ischia 0.7869277281888875 1.047705947358782 0.2947741065949221 1.0 0.7988831473125139 2 Q14999 1 |
| Severe platyspondyly 0.7869277281888833 1.0477059473587655 0.2947741065949296 1.0 0.7988831473125139 2 P49585 1 |
| Abnormal femoral head morphology 0.4316817864827721 1.0475402068075494 0.2948504983836453 1.0 0.7988831473125139 20 Q7LGA3,O75431,P16278,Q8WVQ1,Q7RTS9,O95831 6 |
| Contractures involving the joints of the feet 0.4370365649718987 1.0450484176907442 0.2960005924676538 1.0 0.7990901222909293 19 P02545,Q8IZA0,P50402,Q8N2K0,O60313 5 |
| Abnormality of the palm 0.303539836218913 1.0439649543958538 0.2965016041842276 1.0 0.7990901222909293 118 P02545,O95202,P40855,Q13555,Q9Y487,P16615,O96028,Q9Y2B2,Q06136,P21912,Q7RTS9,Q15907,Q9UHX1,O75431,Q9Y619,O95831,P42167,P48651,Q14739,Q8NCH0,P16435,O95721 22 |
| Ankle clonus 0.4688150435384925 1.0433469433993694 0.2967876368527513 1.0 0.7990901222909293 14 Q9NW15,P07602 2 |
| Abnormal 2nd finger morphology 0.5871880228597334 1.041254902681519 0.2977572608305809 1.0 0.7990901222909293 6 Q9H6K4 1 |
| Fatigable weakness of bulbar muscles 0.4465453251118773 1.0409292512036186 0.2979083847282409 1.0 0.7990901222909293 17 P06753,P35637,P43243,Q92804,Q15165,Q14203,Q13501 7 |
| Ventricular tachycardia 0.468341061536486 1.040345424856262 0.2981794471687373 1.0 0.7990901222909293 14 P0DP25,Q9BTV4,O43772 3 |
| Postaxial hand polydactyly 0.4413956029167837 1.038668390630238 0.298958986794356 1.0 0.7992893118439779 18 O43924,Q14739,Q9UM00,Q7Z4L5,O75845 5 |
| Thin skin 0.4057346388337132 1.0374054776280766 0.2995469265888135 1.0 0.8004004183420311 24 P48651,P02545,O75431,O75844,Q9Y619 5 |
| Low set posteriorly rotated ears 0.3188811030527146 1.035882464398473 0.3002569793882321 1.0 0.8008745265048574 76 O43924,P56589,P04062,Q8NCH0,O96028,Q9UM00,Q96L58,P98175,P37268,Q9Y4P3,P40855,O75381,Q8WVQ1,P16435,Q15392,O95202 16 |
| Unexplained fevers 0.5589973900035763 1.0355033180141198 0.3004339176970827 1.0 0.8008745265048574 7 Q9HC07,P07602 2 |
| Paranoia 0.6243443931945126 1.0352719359609914 0.3005419321598233 1.0 0.8008745265048574 5 Q96RL7 1 |
| Hyperconvex fingernails 0.5857303820995035 1.0344083552533436 0.3009453000179882 1.0 0.8013703975249641 6 O95202,P48651 2 |
| Abnormal gallbladder morphology 0.3701879698490242 1.0333629309449504 0.3014340871137708 1.0 0.8019868805038196 32 P04062,P21964,P07602,Q96A33,Q9NZJ7,P40855,O75845 7 |
| Type ii lissencephaly 0.783184566657076 1.0325730221225111 0.3018037586062121 1.0 0.8019868805038196 2 O43505 1 |
| Abnormality of pelvic girdle bone morphology 0.316477282544278 1.031881886615796 0.3021274523380908 1.0 0.8022183468599735 157 P08236,P02545,P16278,O95202,Q9Y487,P01889,O96028,Q9Y2B2,Q7Z4L5,Q96A33,Q7RTS9,O75844,P51798,Q9Y584,Q15907,Q7LGA3,Q9UHX1,O75431,Q9Y619,Q15125,O95831,Q03252,Q14739,Q8IZA0,P00813,Q8WVQ1,Q9NVI7,Q96HY6,P16435,O75718 30 |
| Acanthosis nigricans 0.4904361906141827 1.0299813675330691 0.3030187522535053 1.0 0.8041251916944449 11 P28070,P02545 2 |
| Abnormal pleura morphology 0.4107509901164204 1.028618933942375 0.3036587771244017 1.0 0.8053634271648895 23 P08236,P01889,Q14739,Q8NCH0,Q96L58,Q9NZ08,O15460,P36543,P14174 9 |
| Hydrocephalus 0.3164052402493029 1.027122782893194 0.3043626519416764 1.0 0.805446228714152 82 P04062,P48651,P21964,P08236,O96028,Q9H490,O43505,P11166,P53701,P40855,P16435,Q15392,O95202,Q15125,P51798 15 |
| Absent brainstem auditory responses 0.8110599078341052 1.0270209428171884 0.3044106026724826 1.0 0.805446228714152 3 P07196,O60313 2 |
| Nemaline bodies 0.7119466358522724 1.021662168647249 0.3069408223909242 1.0 0.808068695682229 4 O43676 1 |
| Hyperintensity of cerebral white matter on mri 0.422032091314072 1.0209615509230274 0.3072726554803622 1.0 0.8084839728333156 21 O75503,P07602,P21912,Q9NZJ7,P17900 5 |
| Vacuolated lymphocytes 0.8093317972350274 1.020563667020311 0.3074612106717815 1.0 0.8085220058662251 3 P16278,P04066 2 |
| Atrial arrhythmia 0.4964990317801864 1.0189911844034587 0.3082071517299041 1.0 0.8096939280706129 10 Q9BTV4,P02545,P50402 3 |
| Vertebral hypoplasia 0.4963799622809369 1.0183132143468674 0.308529130502281 1.0 0.8099543708607083 10 Q96HY6,Q14739,P16278,Q15738 4 |
| Overtubulated long bones 0.8085423225359499 1.0176152696000669 0.3088608278631164 1.0 0.8101870463752076 3 O75844 1 |
| Central hypoventilation 0.5551451383328737 1.0163804006666808 0.3094482751207912 1.0 0.8109919806213061 7 Q14203,P06753,O43819 3 |
| Hypermethioninemia 0.6195738284148758 1.014114905411765 0.3105279264503942 1.0 0.8130933169581179 5 P55263,Q9UJS0,Q6PGP7 3 |
| Bladder diverticulum 0.5546580206502734 1.0139633382182125 0.3106002464004525 1.0 0.8130933169581179 7 Q9NWM8 1 |
| Abnormal labia minora morphology 0.5545184379619426 1.0132707788572095 0.3109308409938922 1.0 0.8134600509096148 7 Q9Y619 1 |
| Microdontia 0.3681670715531517 1.0129361383598026 0.3110906654641421 1.0 0.8134600509096148 31 Q7LGA3,Q9Y487,Q9UM00,Q96L58,P07237,Q9Y2B2,Q96A33,Q9Y4P3,Q6NUK1,Q9Y619 10 |
| Round face 0.4086862109630209 1.0122727890102727 0.3114076416100872 1.0 0.8138306627108864 23 Q32P28,P02545,Q03164,Q9Y2B2,O75718 5 |
| Ectopia lentis 0.4949292293726502 1.0100536988016977 0.3124695635263901 1.0 0.8157467741445585 10 Q03518,P49585,Q9NZB8,Q96L58,O75533 5 |
| Abducens palsy 0.7088943558164196 1.009377686440937 0.3127935355349702 1.0 0.8157467741445585 4 P07602 1 |
| Abnormality of facial soft tissue 0.3046353848638877 1.0087955646566966 0.3130726886458461 1.0 0.8157467741445585 126 P02545,Q92621,Q8NFH4,Q86VD7,Q96TA2,Q969G3,O75190,Q01082,O60313,O00754,P40855,Q13555,P56589,O75340,O75787,Q12769,P21912,Q12768,P28070,O43707,O75844,P12235,O75381,O43819,P51798,Q15907,P42356,Q13510,Q9UHX1,Q86U42,P53007,P07196,Q9Y4P3,Q96RR1,Q14203,Q9BQT8,P57740,P04062,Q03252,P48651,Q9UBM7,P06753,P16219,P10253,Q8N1F7,P16435,Q13501 47 |
| Proximal symphalangism 0.8058827466186274 1.0076901204887114 0.3136032493228708 1.0 0.8157467741445585 3 P48651 1 |
| Symphalangism affecting the phalanges of the hand 0.8058827466186274 1.0076901204887114 0.3136032493228708 1.0 0.8157467741445585 3 P48651 1 |
| Perimembranous ventricular septal defect 0.5532546772134732 1.0070013965871067 0.3139341030535263 1.0 0.8157467741445585 7 Q9UHX1 1 |
| Elevated circulating aspartate aminotransferase concentration 0.4780918681495715 1.0059688814911016 0.3144305394770241 1.0 0.8157467741445585 12 Q15904,Q96RL7 2 |
| Infantile axial hypotonia 0.4941394514778027 1.0055578983528248 0.3146282849743276 1.0 0.8157467741445585 10 P17900,P07602,Q9NZJ7 3 |
| Neoplasm of the oral cavity 0.4706009513219903 1.0050580835614191 0.3148688821781378 1.0 0.8157467741445585 13 O43924 1 |
| Proximal muscle weakness in lower limbs 0.419835302279458 1.004385646475374 0.3151927657772559 1.0 0.8157467741445585 21 P02545,Q9BTV4,P50402,P07196,P12235 5 |
| Synostosis of metacarpals metatarsals 0.8049861690599193 1.0043468448579185 0.3152114615006538 1.0 0.8157467741445585 3 P16435 1 |
| Abnormality of the anterior fontanelle 0.3672064990254985 1.0040218974000903 0.315368059032542 1.0 0.8157467741445585 30 P20674,P56589,Q9Y487,Q32P28,P36543,O75381,P16435,Q9Y619,O75718,P40855,Q15125 11 |
| Diabetes insipidus 0.4704005514537933 1.0038255598339865 0.3154627021041436 1.0 0.8157467741445585 13 O15460,P01889,O76024,P06280 4 |
| Corneal erosion 0.6172440907241302 1.0037932140416277 0.3154782959439335 1.0 0.8157467741445585 5 P51648,P01889 2 |
| Lymphoproliferative disorder 0.7069936023183193 1.0017346544900223 0.3164717647513164 1.0 0.8169717822542232 4 P33991 1 |
| Abnormal waist to hip ratio 0.552129380546494 1.001420403542114 0.3166236039014813 1.0 0.8169717822542232 7 P17096,O76024,P43304 3 |
| Atrophy degeneration involving the corticospinal tracts 0.4773205108013937 1.0013539279799046 0.3166557295559005 1.0 0.8169717822542232 12 P35637,P00846 2 |
| Adrenal hypoplasia 0.5089035199471346 0.99824980254866 0.3181582421558144 1.0 0.8185744468540733 9 O75844,P02545,Q15738 3 |
| Lens subluxation 0.7053112551144469 0.9949744546211992 0.3197486887883416 1.0 0.8212087068611273 4 O75533,P49585 2 |
| Abnormal hdl cholesterol concentration 0.704999247837027 0.9937211982606164 0.3203586195090113 1.0 0.8212087068611273 4 Q9UJS0,P02545 2 |
| Aplasia hypoplasia of the earlobes 0.4920548635168569 0.9936939406311466 0.320371893608677 1.0 0.8212087068611273 10 P10586,P21964 2 |
| Myopathy 0.3041348489223183 0.993522118904351 0.3204555767597736 1.0 0.8212087068611273 101 O43676,P02545,Q9NWS8,P00846,O60313,O00754,P00403,Q96RL7,Q9BTV4,O76024,P21912,Q53H12,Q13126,P12235,Q9NWM8,Q86U42,Q86Y39,P22626,P13473,P53007,P42166,O75648,P07196,Q9Y4P3,O14979,P42167,Q03252,Q8NCH0,P06753,P16219,P50402,P23786 32 |
| Distal lower limb muscle weakness 0.4298268917752503 0.993232287883674 0.3205967669119776 1.0 0.8212087068611273 19 P07196,Q9NR77,P00846 3 |
| Premature skin wrinkling 0.4118586343204074 0.992234534380544 0.3210831298294119 1.0 0.82200113281576 22 Q9Y487,P02545,Q9NZ71,P36543,O75844,P11166 6 |
| Tremor 0.3186077888256609 0.990665157672519 0.3218491098336511 1.0 0.8226165480090316 174 O43924,Q6DKK2,Q9NR77,Q9NZJ7,P00846,O60313,O43464,P41440,Q14108,Q96RL7,Q99720,Q9H6K4,Q9H2C2,O76024,P21912,P35637,Q9NW15,P11166,P12235,P51798,Q6P4A7,O75503,Q13510,O75569,P07602,P20700,Q9BPX6,P07196,Q8N2K0,O95831,P04062,O14773,Q9NQZ5 33 |
| Aplasia hypoplasia of the ribs 0.3797835044803251 0.9867945848690148 0.3237433499451119 1.0 0.8259674596829565 27 Q14739,Q9UHX1,Q03164,Q7Z4L5,Q9BV10,Q96HY6,Q9Y619 7 |
| Pancreatic islet cell hyperplasia 0.8001152073732767 0.986207379521825 0.3240313587742922 1.0 0.8259674596829565 3 Q14739,P53985 2 |
| Sea blue histiocytosis 0.7998435486508737 0.985196949614893 0.3245273386919092 1.0 0.8260137312278519 3 P16278 1 |
| Orthostatic hypotension 0.4426399408944924 0.9850346877713236 0.3246070326207644 1.0 0.8260137312278519 16 P04062,P07602,P20700,Q9NZJ7 4 |
| Hypertensive crisis 0.5742964932408279 0.9807831217758434 0.3266997032198273 1.0 0.8280253917654828 6 P21964 1 |
| Mandibular aplasia 0.7983641194172681 0.979696582729743 0.3272359134464455 1.0 0.8280253917654828 3 Q9Y619 1 |
| Broad philtrum 0.4586867180534623 0.9792359590805456 0.3274634049497251 1.0 0.8280253917654828 14 Q9UM00,Q9Y2B2,Q969G3,Q8TAQ2,P11166 5 |
| Aplasia hypoplasia of the tongue 0.5738404650992002 0.9786477360376208 0.327754064100354 1.0 0.8280253917654828 6 P48651 1 |
| Skin nodule 0.3984726605412198 0.9785911425807868 0.3277820374992379 1.0 0.8280253917654828 24 P01889,P16615,Q13510,Q9NZ08,P21912,P35637 6 |
| Weakness due to upper motor neuron dysfunction 0.312454388504257 0.9780045454334048 0.3280720759794333 1.0 0.8280253917654828 154 Q6DKK2,Q7KZN9,Q9UBX3,Q13423,Q9NZ08,Q9P0J0,Q9NZJ7,P00846,O60313,Q96CU9,P00403,P01889,Q9H6K4,Q96L58,P21912,P35637,Q7RTS9,Q15041,P11166,P51572,Q13510,Q9NZB8,P07602,Q9Y619,O95831,P04062,Q9H9P8,Q5XKP0,P17900 29 |
| Cerebral dysmyelination 0.5468482284481666 0.9752487164140232 0.3294369022639341 1.0 0.8310184541627974 7 P07602 1 |
| Prematurely aged appearance 0.355621716876085 0.973534160983692 0.330287890585216 1.0 0.832260967920642 43 Q03252,P48651,Q9Y487,P02545,Q9NZ71,O75431,Q9Y4P3,Q13126,P36543,O75844,P11166 11 |
| Glomerular sclerosis 0.3637732725337565 0.9728076314065516 0.330648919136125 1.0 0.832718861425252 32 P03915,Q92621,Q8NFH4,Q02978,Q12769,Q14108,O75431,P21912,P00403,Q8N1F7,P16930,O95470,P61619,P57740 14 |
| Hypoplasia of the iris 0.609725787521163 0.9705372161620622 0.3317787836515022 1.0 0.835111474947196 5 Q7LGA3,O95202 2 |
| Distal upper limb amyotrophy 0.4489970569036078 0.9695783773725852 0.3322566951370083 1.0 0.8355093332924375 15 P07196,Q9NR77 2 |
| Bird like facies 0.5450822979529271 0.9665056717948632 0.3337912101997586 1.0 0.8372855373524408 7 O75844 1 |
| Hypoplastic fingernail 0.4398829898775771 0.9664957078122858 0.3337961936561486 1.0 0.8372855373524408 16 P48651,Q14739 2 |
| Neck flexor weakness 0.6979727983323514 0.9655402312835452 0.3342742953627018 1.0 0.8372855373524408 4 Q99720 1 |
| Abnormal protein o linked glycosylation 0.7945202667358187 0.9654245134790748 0.3343322282397898 1.0 0.8372855373524408 3 Q8N511 1 |
| Abnormal tendon morphology 0.3256956956973665 0.9651109422884748 0.3344892468243559 1.0 0.8372855373524408 227 Q9NR77,P08236,P02545,P50897,P15586,O60313,P41440,O15121,P04066,Q99720,Q9BTV4,Q96L58,Q9Y2B2,Q96A33,P21912,P35637,P28070,Q7RTS9,Q15041,O75844,Q9HC21,Q7LGA3,Q13510,O75431,P37268,P07196,Q8N2K0,Q9BV10,Q9Y619,Q15392,O95831,P04062,P42892,P48651,Q8NCH0,Q9BT22,Q8IZA0,P50402,Q8WVQ1,Q86XL3,P16435 41 |
| Abnormal circulating protein concentration 0.3125615228569078 0.9645006503867704 0.3347949824940319 1.0 0.8372855373524408 157 P02545,Q92621,Q8NFH4,Q86VD7,Q8N511,P36543,P41440,Q6PGP7,Q6ZXV5,Q9UJS0,Q96RL7,P50416,Q9Y487,Q9BTV4,P16930,P12235,Q9NWM8,Q9Y584,Q86U42,O43772,P22626,P13473,P42166,Q9BPX6,O75648,P07196,P36551,Q9Y4P3,Q9BV10,O14979,O95831,P39210,P42167,Q9HC07,Q5JRX3,Q9BT22,P06753,P50402,O43505,P14174,Q8N1F7,P23786,Q5XKP0,O95470,P46020,P53985 46 |
| Ocular pain 0.6974018046308947 0.963253892850136 0.3354201255010687 1.0 0.8377215386338581 4 O75533,P29992 2 |
| Dystrophic fingernails 0.4866397991163121 0.9628958648782994 0.335599784957955 1.0 0.8377215386338581 10 O75844 1 |
| Abnormality of the intrahepatic bile duct 0.7936099027045384 0.9620484945891824 0.336025244590604 1.0 0.8377215386338581 3 P02545 1 |
| Abnormal lymphocyte morphology 0.3589661719741728 0.9609111000318108 0.3365968691394199 1.0 0.837798372425401 38 P16278,P28070,P00813,Q9BV10,Q6PGP7,O95470,P04066 7 |
| Caesarian section 0.6965916622198003 0.9600109815482828 0.3370496880738449 1.0 0.837798372425401 4 O60313 1 |
| Bulbar palsy 0.4556124551391724 0.9597939988931352 0.3371589032109612 1.0 0.837798372425401 14 P06753,P53007,O75190,P35637,P43243,O43681,P31483,Q13501 8 |
| Abnormal thalamic size 0.7650446300028884 0.9596905837349644 0.3372109637661118 1.0 0.837798372425401 2 P11166 1 |
| Osteolysis involving bones of the upper limbs 0.5173316858844681 0.9593518658041292 0.3373815150190298 1.0 0.837798372425401 8 O75844,P02545 2 |
| Parkinsonism 0.3604905862744308 0.9587179165286444 0.3377008701123456 1.0 0.837798372425401 36 P04062,Q96RL7,Q99720,P05067,P07602,Q9NZJ7,P35637,O43464 8 |
| Abnormal peripheral nervous system morphology 0.3164181432076598 0.9567262279511404 0.338705456256857 1.0 0.8389056740569834 173 Q6DKK2,Q9NR77,P02545,Q8IV08,Q9NZJ7,P00846,O60313,P41440,Q9GZY8,O15121,P00403,P40855,Q96RL7,Q99720,O76024,P21912,P35637,P12235,O75381,P51798,Q15067,Q9HC21,Q13510,Q9UHX1,Q9NZB8,P22626,P07602,P20700,Q9BPX6,P07196,Q8N2K0,Q9BV10,Q9Y619,Q9BQT8,O95831,P39210,P48651,Q9NVI7,O95721 39 |
| Abnormal greater sciatic notch morphology 0.5686986349162868 0.9545920457382164 0.3397840412308981 1.0 0.8402327409351922 6 P08236,Q7RTS9 2 |
| Abnormal cardiac ventricular function 0.4129825755533854 0.952700931428067 0.3407416212971599 1.0 0.8417043028212822 21 Q15233,P02545,P21912,P10253,Q96RR1,O75844,P12235,P00403 8 |
| Bifid scrotum 0.5419551081393963 0.9510345526138466 0.3415868360273979 1.0 0.8433435760293652 7 Q01082,P16435,Q69YQ0,Q9UBM7 4 |
| Ophthalmoparesis 0.3111265490369221 0.950117853883234 0.3420523722765505 1.0 0.8440442172435179 82 Q7KZN9,Q9P0J0,Q969G3,P00846,O60313,Q96CU9,Q9GZY8,P00403,P01889,Q86SQ9,O76024,P21912,P12235,O43819,Q10713,Q86U42,O15460,P53007,Q9BPX6,Q96IX5,Q96RR1,P04062,P49585,P06753,P16219 25 |
| Small basal ganglia 0.5152489529164131 0.9484257971690716 0.3429127316644003 1.0 0.8447245911446011 8 P00846 1 |
| Limb undergrowth 0.3229158920451785 0.9449419453829296 0.3446885155224126 1.0 0.8463396600083407 61 Q14739,Q9UHX1,Q03164,O75718,Q7Z4L5,Q7RTS9,Q9BV10,Q15392,Q15125 9 |
| Dysdiadochokinesis 0.4277732392384639 0.9430178150733454 0.3456717906639572 1.0 0.8463396600083407 18 Q6DKK2,Q9UBB4,O75027,O75503,P20700,P41440,Q13501 7 |
| Dermal translucency 0.4987870652770662 0.9430102269797802 0.3456756718908305 1.0 0.8463396600083407 9 O75844,P02545 2 |
| Retinal thinning 0.7880184331797286 0.9413491653034134 0.346525955188667 1.0 0.8465348542156466 3 P51648,P04439 2 |
| Hypoplasia of the uterus 0.4752032923692307 0.9411816635829536 0.3466117717473591 1.0 0.8465348542156466 11 P53701,Q8WWQ0,P57740,Q16740 4 |
| Abnormal tarsal ossification 0.7871543778801898 0.9381562111704956 0.3481641380054014 1.0 0.8476094026119008 3 Q8WVQ1,Q15125 2 |
| Abnormality of the ischium 0.7871543778801887 0.9381562111704916 0.3481641380054034 1.0 0.8476094026119008 3 Q8IZA0,Q14999 2 |
| Loss of ability to walk 0.4520547279906232 0.9373100633793754 0.3485990879539795 1.0 0.8476094026119008 14 P00846,Q96D71 2 |
| Abnormal involuntary eye movements 0.3207001078278507 0.9370837318295048 0.3487154888919825 1.0 0.8476094026119008 310 O43924,Q6DKK2,Q9NR77,Q7KZN9,O43676,Q9H061,Q8IV08,Q9NPL8,Q9P0J0,Q9NZJ7,P00846,O60313,P41440,Q96CU9,O15121,O95202,P40855,P01889,O00584,O96028,Q99720,Q9H6K4,Q9H2C2,O76024,P21912,P35637,Q9NW15,P11166,P12235,O96000,P51798,Q15067,Q15907,O75381,Q7LGA3,O75503,Q13510,O43772,Q86Y39,Q9NZB8,P07602,Q8IUX1,P20700,P07196,Q9Y6M9,Q8N2K0,Q9Y4P3,Q5KU26,Q15392,Q15125,O95831,P39210,P04062,Q6P4Q7,Q9BT22,Q9H9P8,Q9H490,O14773,Q9NVI7,Q5XKP0,P17900,Q96D71 62 |
| Upper limb postural tremor 0.7866134164096616 0.9361579938300576 0.3491918473239881 1.0 0.8476094026119008 3 Q9NR77 1 |
| Radioulnar synostosis 0.4045930739044333 0.9360093862293488 0.3492683550393101 1.0 0.8476094026119008 22 O96028,Q96L58,Q8WVQ1,P16435,O95202 5 |
| Multiple lipomas 0.5387863281560401 0.9353739099735284 0.3495956376144962 1.0 0.8476094026119008 7 P03915,P29992,Q9Y2U8 3 |
| Increased circulating lactate dehydrogenase concentration 0.4351598020035292 0.9347559615904986 0.3499140796160365 1.0 0.8476094026119008 16 Q9UJS0,P04637,Q96RL7,Q5JRX3,P41440,P23786 6 |
| Short palm 0.3868973940701324 0.9344634156892796 0.3500648989404675 1.0 0.8476094026119008 25 P48651,P02545,Q9UHX1,Q9Y619,Q13555 5 |
| Deviation of the 2nd finger 0.6009698482388752 0.931925092504052 0.3513752388211639 1.0 0.8476094026119008 5 Q9H6K4 1 |
| Axial dystonia 0.7853626350308598 0.931540222782528 0.351574188249856 1.0 0.8476094026119008 3 Q99720 1 |
| Abnormality of cranial sutures 0.305987109093023 0.9297026803577678 0.3525250463161185 1.0 0.8482519767316342 91 Q9NX62,P02545,P36543,P40855,Q9Y487,Q9UM00,Q96L58,P61978,O75844,O75381,P51798,O75431,Q9Y619,O75845,O95831,P48651,P21964,Q8NCH0,Q32P28,P07237,P98175,P16435,O75718 23 |
| Supernumerary nipple 0.4651524113679784 0.928643039125276 0.3530741093272098 1.0 0.8486996781983228 12 Q7LGA3,Q15233,Q9Y2B2,Q9UM00 4 |
| Recurrent fever 0.4581620325561762 0.928638214843886 0.3530766103098965 1.0 0.8486996781983228 13 Q9NR77,P28070,Q13510 3 |
| Anterior rib cupping 0.5999660735728323 0.9275078324206788 0.3536629270486924 1.0 0.8491032283360114 5 P00813 1 |
| Abnormal circulating aspartate family amino acid concentration 0.4958971102326631 0.9272571976606468 0.3537930118066714 1.0 0.8491032283360114 9 P55263,Q9UJS0,Q6PGP7 3 |
| Abnormal ossification involving the femoral head and neck 0.5996934850045149 0.9263086156481064 0.3542856197521262 1.0 0.8493287662296214 5 Q7RTS9,Q14739 2 |
| Elevated circulating alanine aminotransferase concentration 0.4800149240415622 0.9252691353102632 0.3548259293539886 1.0 0.8493287662296214 10 Q15904,Q96RL7 2 |
| Impaired distal tactile sensation 0.7828946043927028 0.922438468192144 0.3562999121021482 1.0 0.8515989664448668 3 P39210 1 |
| Retinal dysplasia 0.5095253004006581 0.91843672383433 0.3583902719284233 1.0 0.8531294115036888 8 O43924,P53701,O43505 3 |
| Diffuse mesangial sclerosis 0.4285116476310525 0.917092444422968 0.3590941999538872 1.0 0.8531294115036888 17 Q92621,Q8NFH4,Q12769,P00813,Q8N1F7,O95470,P57740 7 |
| Polyhydramnios 0.340342059058509 0.9147997409177864 0.3602967708528959 1.0 0.8531294115036888 52 P04062,Q14739,P02545,P21964,Q70HW3,Q9BV10,Q6PGP7,O75844,Q15125,P51798 10 |
| Abnormality of the diencephalon 0.3573643834328084 0.9141874252228992 0.36061837048035 1.0 0.8531294115036888 33 O43924,P49792,Q8WWQ0,Q969G3,Q9Y4P3,Q96RR1,Q9GZY8,P11166,O43819 9 |
| Limited hip movement 0.4557392218378436 0.9137799230123372 0.3608324980431532 1.0 0.8531294115036888 13 O75844,Q7LGA3 2 |
| Scrotal hypoplasia 0.407778034599744 0.9134879486645802 0.3609859689643575 1.0 0.8531294115036888 21 Q8TCJ2,Q9NP72,Q9UBM7,P46977,Q6NUK1,Q9H0U9,Q9BV10,P16435 8 |
| Increased vertebral height 0.779434550702212 0.9097012525357095 0.3629800834671766 1.0 0.8532545042791573 3 Q14999 1 |
| Vocal cord paralysis 0.4072560456575116 0.909557824556723 0.3630557494521134 1.0 0.8532545042791573 21 Q9BTV4,Q9NR77,P02545,P50402 4 |
| Chorioretinal dysplasia 0.5954903304656064 0.907837016856203 0.3639643378441297 1.0 0.8545249671123046 5 P53701,P52732,O43505 3 |
| Abnormal blood transition element cation concentration 0.4615466300071142 0.9071403690732268 0.3643325726263886 1.0 0.8549572851323642 12 Q6PGP7,Q15904,O43819,Q9Y487 4 |
| Choanal stenosis 0.6827085027849786 0.9046385804604172 0.3656568893571319 1.0 0.8565423257823997 4 P48651 1 |
| Cerebral white matter atrophy 0.406502927714655 0.9038885180737204 0.3660545180928678 1.0 0.8565423257823997 21 O75503,Q9H9P8,P20700,O60313,P51970,P51572 6 |
| Hypolipidemia 0.7506478548805067 0.902473532635128 0.3668053750539206 1.0 0.8566275009901655 2 P49585 1 |
| Hypotriglyceridemia 0.7506478548805067 0.902473532635128 0.3668053750539206 1.0 0.8566275009901655 2 P49585 1 |
| Ulnar deviation of the wrist 0.6819442061447486 0.9016021204567712 0.3672682642047689 1.0 0.8566275009901655 4 P16278,P16435 2 |
| Oral pharyngeal dysphagia 0.4535567930534868 0.900405533529641 0.3679044770972179 1.0 0.8568447300097695 13 Q01105 1 |
| Recurrent respiratory infections 0.3000353969194669 0.8988242278241705 0.3687462929947565 1.0 0.8583748294073429 131 Q03518,P08236,Q9NPL8,P16278,Q9NZJ7,P15586,O95202,P04066,Q9Y487,P01889,O96028,P09601,Q7RTS9,P51798,Q13510,P07602,P20700,P54802,Q9Y4P3,Q9BV10,Q8N5M9,P33991,P04062,P00813 24 |
| Facial capillary hemangioma 0.7494961128707279 0.8979235175618303 0.3692263258095547 1.0 0.859061651833453 2 P16435 1 |
| Cerebellar atrophy 0.3048150288824255 0.8960074391505077 0.3702487901014528 1.0 0.860578268884458 145 Q8TCJ2,Q6DKK2,Q8IV08,Q9Y320,O60313,P41440,P13073,P00387,O00754,Q96CU9,Q9GZY8,O15121,Q14108,Q92643,Q9UBB4,Q9H6K4,Q13217,Q9NW15,P12235,P51572,P51798,Q10713,Q13813,O75503,P46977,O75648,Q8N2K0,O75845,Q5JRX3,Q9BT22,Q9H9P8,Q9H490,O14773,P51970,Q9NVI7,Q5XKP0,Q96D71 37 |
| Abnormality of hair pigmentation 0.3879772412414189 0.8936982455291371 0.3714833643594732 1.0 0.8611392915951772 24 P02545,Q9UBM7,Q9UM00,Q9NZ71,P37268,Q13724,P06748,Q13126,Q6PGP7 9 |
| Aplasia hypoplasia of the palmar creases 0.774992399004657 0.8933897031397241 0.3716485149071933 1.0 0.8611392915951772 3 Q8NCH0 1 |
| Abnormality of mouth size 0.3007935075940551 0.8928639187460888 0.3719300514138912 1.0 0.8611392915951772 134 Q9NX62,P02545,P16278,P15586,Q6PGP7,Q9Y487,Q01105,Q9Y2B2,O75844,P11166,Q7LGA3,O75431,Q9Y619,Q15392,P55795,P04062,P48651,P21964,Q8NCH0,Q9H490,Q8WVQ1,Q9NVI7,P16435 23 |
| Abnormality of the gingiva 0.3426864622035838 0.8924906246004718 0.3721300157424649 1.0 0.8611392915951772 49 P04062,P08236,Q14739,Q9UM00,P20700,P16278,P49257,Q6UN15,Q9NZ71,P06748,Q9Y4P3,Q5JRA6,P53634,O00754,Q15392,Q14108,O75845 17 |
| Scleroderma 0.5919680212191636 0.8923874013871956 0.372185321593812 1.0 0.8611392915951772 5 Q14739 1 |
| Abnormal adipose tissue morphology 0.318812424215065 0.8917444995134843 0.3725298959549334 1.0 0.8611392915951772 61 P42167,Q03252,Q9Y487,P02545,Q9BTV4,O75431,P50402,P28070,Q9BV10,O75844,P04066 11 |
| Abnormality of female external genitalia 0.3526504226091875 0.8891618449744142 0.373916105290216 1.0 0.8634840342952577 37 P56589,P49711,O95155,P02545,Q9NP72,Q9UBM7,Q69YQ0,Q9NX14,P53701,Q6NUK1,O75381,P16435,Q9Y619,P51809,Q15392,P40855,O60885 17 |
| Postnatal growth retardation 0.3088728849438669 0.8854767196860973 0.3758995702544931 1.0 0.8637698641479433 73 P08236,Q9Y487,P02545,O96028,Q03164,Q9UM00,Q96L58,Q14999,O75431,O76024,P11166,Q7RTS9,Q9NZ71,P17900,O95202,Q15125,P33991 17 |
| Abnormal skin morphology of the palm 0.3019740735798036 0.8839169413934691 0.3767410511869462 1.0 0.8639445822150036 93 P02545,O95202,P40855,P56589,Q9Y487,P16615,O96028,Q9Y2B2,Q06136,Q99567,P21912,P61978,P53634,O75381,Q15907,Q9UHX1,O75431,P42166,Q6NUK1,P42167,Q14739,Q8NCH0,P98175,Q9NZ71,O95721 25 |
| Upper limb amyotrophy 0.4236242921743225 0.8836113390037759 0.3769060558931087 1.0 0.8639445822150036 17 P07196,Q9NR77 2 |
| Diffuse cerebral atrophy 0.4231564977663652 0.8804095105734635 0.3786375062067399 1.0 0.8659458301545382 17 P07602,P16278 2 |
| Flared iliac wing 0.5510693876035164 0.8724797903371654 0.3829466885868473 1.0 0.871339746103537 6 P16278,O95831 2 |
| Abnormal z disc morphology 0.7425856608119754 0.8707160576152545 0.3839092085939657 1.0 0.8718212052373496 2 P51114 1 |
| Abnormal sarcomere morphology 0.7425856608119754 0.8707160576152545 0.3839092085939657 1.0 0.8718212052373496 2 P51114 1 |
| Weakness of long finger extensor muscles 0.7425856608119749 0.8707160576152533 0.3839092085939664 1.0 0.8718212052373496 2 P31483 1 |
| Fat malabsorption 0.5000494134121941 0.8689326532514632 0.3848839681106675 1.0 0.8726723699967284 8 Q14739 1 |
| Osteopenia 0.3074835369153894 0.8683119328437198 0.3852235914068245 1.0 0.8726723699967284 74 P04062,Q9Y487,P02545,Q32P28,Q96L58,P07602,Q9H490,O75431,Q9NZJ7,O75844,O75718,Q9NWM8,Q14108 13 |
| Adducted thumb 0.3956836960056014 0.8671893362767272 0.3858382781005574 1.0 0.8731565006176382 22 Q96L58,P42892,Q86XL3,Q8NCH0 4 |
| Hypercholesterolemia 0.448088996229231 0.866944292722228 0.3859725332627239 1.0 0.8731565006176382 13 Q15904,Q8N511,P02545 3 |
| Progressive inability to walk 0.4070926387236743 0.8667901238805211 0.3860570143462114 1.0 0.8731565006176382 20 P00846,Q96RL7,Q96D71 3 |
| Sensory axonal neuropathy 0.4248358826912125 0.8655177037198276 0.3867547032687302 1.0 0.8731565006176382 16 Q15067,O95831,Q8IV08 3 |
| Abnormality of the fontanelles or cranial sutures 0.2903356008112883 0.8645201738936552 0.3873022029085966 1.0 0.8731565006176382 112 P20674,Q9NX62,P02545,P36543,P40855,P56589,Q9Y487,Q9UM00,Q96L58,P61978,O75844,O75381,P51798,O75431,Q9Y619,Q15125,O75845,O95831,P48651,P21964,Q8NCH0,Q9BT22,Q32P28,P07237,P98175,P16435,O75718 27 |
| Cirrhosis 0.345927681959038 0.8644156886375981 0.387359577538406 1.0 0.8731565006176382 41 Q9UJS0,Q10713,P04062,Q14739,P11717,Q15904,Q9NZ71,P16930,Q6PGP7,Q14108,P39210 11 |
| Hypopigmentation of the fundus 0.6723097425312361 0.8634454581268468 0.3878925950630116 1.0 0.8731565006176382 4 Q9Y619 1 |
| Abnormal circulating ige level 0.54906968933903 0.8632089123826507 0.3880226144205014 1.0 0.8731565006176382 6 P00813 1 |
| Shallow anterior chamber 0.7402821767924094 0.8616835701333487 0.388861669163812 1.0 0.8731565006176382 2 Q9Y2B2 1 |
| Delayed puberty 0.3283876510734982 0.8614147651764351 0.3890096468083319 1.0 0.8731565006176382 56 P04062,P02545,O76024,Q9NVI7,P16435,O75844,Q15800,Q14108 8 |
| Exercise intolerance 0.3496412141861499 0.859475967568787 0.3900779733917261 1.0 0.8751314533483943 37 P13473,Q8IUX1,P46020,Q9Y2R0,Q53H12,P23786,Q9H2D1,P12235,P00403 9 |
| Abnormality of the bladder 0.2964951011283099 0.8581632055131465 0.3908023502093884 1.0 0.8757243881176611 128 Q9NR77,Q9NZJ7,P56589,P01889,Q99720,O76024,P21912,P61978,P35637,P12235,P11166,Q9NWM8,Q3ZCQ8,Q9UHX1,P22626,P07602,Q15058,P20700,P07196,Q9Y4P3,P04062,P21964,Q8NCH0,Q86XL3,P16435 25 |
| Abnormal thalamic mri signal intensity 0.4977302391048382 0.856849254819521 0.3915282005385498 1.0 0.8761455084650512 8 Q9GZY8,Q96RR1 2 |
| Abnormality of the metaphysis 0.3133683061161487 0.8568375812839384 0.3915346528774781 1.0 0.8761455084650512 62 P16278,Q96L58,Q7Z4L5,Q13126,Q7RTS9,P51798,Q14999,Q9UG56,O95831,Q9HC07,P49585,P04637,Q14739,P48651,P07237,P00813,Q8WVQ1,Q96HY6,Q9NZ71 19 |
| Fatigable weakness of respiratory muscles 0.4235041198192344 0.8566044230463289 0.3916635404590078 1.0 0.8761455084650512 16 Q92804,Q15165 2 |
| Middle age onset 0.4601170277415387 0.8535964232333743 0.393328641027481 1.0 0.8769170470147007 11 P07602,P02545 2 |
| Agitation 0.3489050750459921 0.8522198825867406 0.3940920633038156 1.0 0.8777762791284986 37 P04062,P42892,P05067,P35637,Q92804,Q15165 6 |
| Bilateral talipes equinovarus 0.5459729679233027 0.8488723891968424 0.3959523041704389 1.0 0.8792106350373272 6 Q15392 1 |
| Abnormal echocardiogram 0.5819011186096341 0.8483993992379744 0.3962155771302396 1.0 0.8792106350373272 5 P12235 1 |
| Episodic respiratory distress 0.762096774193555 0.8463199896638476 0.3973742593773144 1.0 0.8804418227806527 3 P00846,P53007 2 |
| Lower extremity joint dislocation 0.3047113641358221 0.8442342997290053 0.3985384912984775 1.0 0.881759291848561 79 Q9NX62,Q9Y5S9,P02545,P36543,O95202,Q6ZXV5,Q9Y487,O96028,Q96L58,Q9Y2B2,Q96A33,O75844,Q9UHX1,Q14999,P53007,Q9Y4P3,Q15125,Q15738,P21964,P06753,P55011,Q8WVQ1 22 |
| Pigmentary retinopathy 0.3354331569263655 0.8410966526622142 0.4002937901940477 1.0 0.8838354157391314 51 Q7KZN9,Q9UG56,Q9P0J0,O76024,P53701,P00846,Q96CU9,P00403,Q15067 9 |
| Unsteady gait 0.3350279896130079 0.8364975722742319 0.4028750419449101 1.0 0.8857478584380098 51 Q15907,Q9NR77,O75503,Q9H6K4,Q9H2C2,P07196,O95831 7 |
| Depression 0.2890694307947622 0.8360229160886824 0.4031420112710924 1.0 0.8857478584380098 113 Q6DKK2,P50897,Q9NZJ7,O43464,Q15165,P00403,Q96RL7,P01889,O76024,P35637,P12235,P11166,P06280,Q96N66,P07602,P20700,P36551,P04062,P21964,Q92804 20 |
| Arnold chiari malformation 0.3916344286397831 0.8359827005015026 0.4031646353089004 1.0 0.8857478584380098 22 Q15233,Q86SQ9,Q9Y4P3,P16435,Q9UNW9,O75845 6 |
| Chronic constipation 0.3624497049078486 0.8359444102655088 0.4031861769109208 1.0 0.8857478584380098 27 Q7LGA3,Q03252,P04062,P20700,P55795 5 |
| Low alkaline phosphatase 0.5790243196551935 0.8358792479715369 0.4032228379777494 1.0 0.8857478584380098 5 Q969N2,Q92643 2 |
| Abnormality of long bone morphology 0.3145663033272554 0.8344940092274503 0.4040026618216654 1.0 0.8857478584380098 197 Q9NX62,Q9NR77,P08236,P02545,P16278,O95202,P40855,Q9Y487,O96028,Q96L58,Q9Y2B2,Q7Z4L5,Q7RTS9,O75844,O75381,P51798,Q7LGA3,Q9UHX1,P22626,O75431,P37268,Q9BV10,Q9Y619,Q9UG56,Q15125,O95831,Q9HC07,P48651,Q14739,Q32P28,P38435,Q9H490,P00813,Q8WVQ1,Q96HY6,P16435,O75718 37 |
| Vitritis 0.6648570475166059 0.8340952036486857 0.4042273377234 1.0 0.8857478584380098 4 P04439 1 |
| Gastrointestinal obstruction 0.428090796285608 0.8337286260690343 0.4044339232049099 1.0 0.8857478584380098 15 P42892,Q01844,P21912,P16930,Q5HYI8 5 |
| Aplasia hypoplasia of the sternum 0.6646814864028805 0.8334056886117702 0.4046159675327248 1.0 0.8857478584380098 4 Q9Y619 1 |
| Photophobia 0.3461631640765051 0.833206944659407 0.4047280266161621 1.0 0.8857478584380098 38 P01889,Q6P4Q7,P07602,Q9NZ08,Q9NZJ7,P51648 6 |
| Abnormality of adrenal physiology 0.3483433598720724 0.8309715069331418 0.4059897258403113 1.0 0.8872547232011322 34 Q13423,P40855,O75381,P16435,O95470,P33991 6 |
| Metaphyseal dysplasia 0.4482314675422928 0.8279978506790436 0.4076717171146979 1.0 0.8890467573688773 12 Q9HC07,O95831 2 |
| Decreased circulating cortisol level 0.4773682181956248 0.8266775076802975 0.4084198732072623 1.0 0.8890467573688773 9 Q13423 1 |
| Abnormality of the vertebral endplates 0.4770402123524146 0.8249051283532277 0.409425454577129 1.0 0.8890467573688773 9 Q7RTS9,P51798 2 |
| Erythroderma 0.4477004487358073 0.8248519779033516 0.409455632870477 1.0 0.8890467573688773 12 Q15125 1 |
| Abnormality of facial musculature 0.3018472932198049 0.8242709834854687 0.4097856019574264 1.0 0.8891749532443557 84 Q86VD7,Q96TA2,Q969G3,O60313,O00754,P40855,Q13555,P56589,P12235,O75381,O43819,P51798,Q15907,Q13510,Q9UHX1,Q86U42,P53007,P07196,Q96RR1,Q9BQT8,P04062,P48651,P06753,P16219,P10253 25 |
| Hyperventilation 0.4914020374705077 0.823953838208053 0.4099657876546647 1.0 0.8891749532443557 8 P00846 1 |
| Abnormal periventricular white matter morphology 0.3431262548446907 0.8230751851325783 0.4104652392566137 1.0 0.8891749532443557 40 O75503,Q9UHX1,P07602,O15121,Q9NZJ7,O60313,P51571,P17900,O95202 9 |
| Calvarial skull defect 0.5159069226895833 0.8229362874094381 0.4105442257828282 1.0 0.8891749532443557 7 O95202,Q14739 2 |
| Accessory spleen 0.4911538990785631 0.8226663895239589 0.4106977335721669 1.0 0.8891749532443557 8 Q15904,O95202 2 |
| Aplasia hypoplasia of the uterus 0.410499143204356 0.8221674329081661 0.4109816111285631 1.0 0.8893749310722494 18 Q9Y5S9,O96028,Q8WWQ0,P53701,Q16740,O95202 6 |
| Facial hypotonia 0.4543594402478998 0.8203192606446704 0.4120341292129699 1.0 0.89076157028726 11 Q15907,Q13555,O00754 3 |
| Concave nasal ridge 0.7547477710789005 0.8197020476174074 0.4123859824445868 1.0 0.89076157028726 3 Q15125 1 |
| Abnormal size of the clitoris 0.4256608839073967 0.8180115692862884 0.4133505811598856 1.0 0.8920414464392007 15 P53701,P40855,P16435,Q9Y619,O75381 5 |
| Spinal rigidity 0.4331032912108991 0.8179840050417285 0.4133663205721705 1.0 0.8920414464392007 14 Q9BTV4,P06753,P02545,P50402 4 |
| Vegetative state 0.5743754211025909 0.8156987081678062 0.4146724780617661 1.0 0.8936693309905913 5 P07602,Q9NZJ7 2 |
| Skin dimple 0.3664366221589209 0.8154737255822834 0.414801198281481 1.0 0.8936693309905913 26 Q03164,O96028,Q9UM00,P53701,Q9Y4P3,O95202,Q15125 7 |
| Aplasia hypoplasia of the 5th finger 0.4136034735393185 0.8151597229757925 0.4149808893791018 1.0 0.8936693309905913 17 Q9UHX1 1 |
| Thick eyebrow 0.3331455538847644 0.8151439504186908 0.4149899165943098 1.0 0.8936693309905913 51 P08236,Q9Y4W2,Q969G3,P15586,Q01082,Q9BSJ2,O00754,P04066,Q03164,Q9NZN8,Q9UM00,Q9UHX1,Q14999,Q6NUK1,Q9Y2U8,O60885,O95831,P49711,Q8WWQ0,P98175,Q69YQ0,Q8TAQ2,Q9UQE7 23 |
| Vestibular dysfunction 0.3469320070057151 0.8146146016754945 0.415292949679233 1.0 0.8936693309905913 31 P01889,O15460,Q9NZ08,Q02978,P0DP25,P21912,Q6UN15,P41440,Q96RR1,P06280 10 |
| Muscle fiber inclusion bodies 0.4893854656048526 0.813496661334347 0.415933359703649 1.0 0.8936693309905913 8 O43676 1 |
| Fasciculations 0.3409268489998847 0.8129828973075267 0.4162278638971983 1.0 0.8936693309905913 41 Q13510,P22626,P07602,Q9NZJ7,P07196,Q9NWS8,P35637,Q9NW15,Q9BQT8,P06280,O95831 11 |
| Contractures of the large joints 0.7273250791822742 0.8112458608895702 0.4172244937641176 1.0 0.8936693309905913 2 O75431 1 |
| Edema of the dorsum of feet 0.7273250791822635 0.8112458608895269 0.4172244937641425 1.0 0.8936693309905913 2 Q9Y5S9 1 |
| Edema of the dorsum of hands 0.7273250791822635 0.8112458608895269 0.4172244937641425 1.0 0.8936693309905913 2 Q9Y5S9 1 |
| Abnormal cortical bone morphology 0.4042358770545721 0.8099155167431881 0.4179887331252012 1.0 0.8936693309905913 19 P48651,Q15058,Q86XL3,O00754,P40855,P51798 6 |
| Cough 0.3462159529466992 0.8096401950339865 0.4181469993882603 1.0 0.8936693309905913 30 P35610,Q9NR77,P04062,P01889,O15269,O15460,P41440 7 |
| Sudden death 0.3657003361564081 0.8092576400780364 0.4183669663120897 1.0 0.8936693309905913 26 P50416,P01889,P02545,Q9BTV4,P0DP25,P50402,Q9Y4P3 7 |
| Bilateral tonic clonic seizure 0.297452117528517 0.8072400070611411 0.4195282204316677 1.0 0.8936693309905913 92 P04062,Q96RL7,Q14739,Q13510,P07602,Q01105,Q9Y2B2,Q9NZJ7,P00846,Q9NQZ5,P11166,P00403,P27544 13 |
| Corneal dystrophy 0.5368324200848013 0.8067134554120875 0.4198315901780258 1.0 0.8936693309905913 6 P12235,P06280 2 |
| Protuberant abdomen 0.5367354055287173 0.806267361747608 0.4200887053681055 1.0 0.8936693309905913 6 P04062 1 |
| Delayed menarche 0.5366468026847369 0.8058599734453609 0.4203235927367801 1.0 0.8936693309905913 6 O75844 1 |
| Diminished ability to concentrate 0.5718387046464007 0.8047155789607242 0.4209838274306943 1.0 0.8936693309905913 5 Q7RTS9,Q96RR1 2 |
| Abnormal systemic blood pressure 0.2962506824995701 0.8039106109512558 0.42144860149175 1.0 0.8936693309905913 94 P04062,P42892,P21964,P02545,O43772,P01889,Q13423,P07602,P20700,Q9NZJ7,P21912,P36551,P16435,O75844,P00403,P06280 16 |
| Abnormal circulating igg level 0.4118187775780445 0.8030035235942353 0.4219726979591405 1.0 0.8936693309905913 17 Q15904,P00813 2 |
| Retinal vascular tortuosity 0.4153913724976379 0.8024264938320692 0.4223062926634109 1.0 0.8936693309905913 16 P00846,P21964 2 |
| Short thorax 0.5116033098306868 0.8019452468943112 0.4225846311862922 1.0 0.8936693309905913 7 P11166,Q7RTS9,Q7Z4L5 3 |
| Acute hepatic failure 0.4231470837348169 0.8017736913744143 0.4226838796348902 1.0 0.8936693309905913 15 P16930,P01889,P39210 3 |
| Epiphyseal dysplasia 0.5114704158836267 0.8012980139237391 0.4229591403717072 1.0 0.8936693309905913 7 Q9HC07,Q8WVQ1,Q7RTS9 3 |
| Weakness of facial musculature 0.3059760637665531 0.7966048480996193 0.4256805608847132 1.0 0.8957229382639819 63 Q86VD7,Q96TA2,Q969G3,O60313,P40855,P56589,O75340,P12235,O75381,O43819,P51798,P42356,Q13510,Q9UHX1,Q86U42,P53007,P07196,Q96RR1,Q14203,Q9BQT8,P48651,P06753,P16219,Q13501 24 |
| Azoospermia 0.4362592310487397 0.7948398541146071 0.4267066646241195 1.0 0.8969479110532367 13 P04062 1 |
| Gastroesophageal reflux 0.2948970489557099 0.7928273572057466 0.4278784152389669 1.0 0.8987188423201098 134 O14678,O95155,Q9NZJ7,P00846,P51571,Q6ZXV5,Q9UGP8,O95202,Q15233,Q03164,Q86SQ9,O96028,Q9H2C2,Q01105,Q96A33,P12235,Q9Y584,Q9UHX1,P07602,P53007,Q9Y4P3,Q6NUK1,Q96RR1,Q9BV10,Q9Y619,P55795,P49711,Q14739,P21964,O15269,Q8IZA0,P55011,P16435,Q9NZ71 34 |
| Abnormal enzyme coenzyme activity 0.3110015308891318 0.7913280618130774 0.4287525771417972 1.0 0.8992215592422024 191 P20674,O14678,Q8N511,P16278,Q9NZJ7,O75880,P00846,P41440,O00754,P40855,Q92643,Q9UJS0,Q96RL7,P50416,P01889,Q86SQ9,Q9Y2B2,Q96A33,Q14566,P28070,P16930,Q5HYI8,Q9NW15,P12235,P51798,Q15067,Q10713,Q13510,O43772,Q9NZB8,Q15904,P22626,P07602,O75431,O75648,Q96RR1,Q9BV10,Q9Y619,P28288,O75845,Q9HCC0,P39210,P55263,P61916,P04062,Q9HC07,P04637,Q14739,Q5JRX3,P10619,O15118,O43505,P22695,P00813,P23786,Q5XKP0,P46783 57 |
| Short femur 0.5331818538965827 0.7899487168095282 0.4295577187048458 1.0 0.8992215592422024 6 Q9UHX1 1 |
| Hallux valgus 0.4091031116765799 0.7845303329086607 0.4327289906285061 1.0 0.9013680473349268 17 Q96L58,P04062,Q9Y4P3 3 |
| Abnormal pulmonary interstitial morphology 0.3434567569260144 0.7843223224531779 0.4328510044903639 1.0 0.9013680473349268 34 P04062,P09601,Q14108,Q13510 4 |
| Vocal cord paresis 0.5668343079625752 0.7831112463605701 0.4335617875056599 1.0 0.9013680473349268 5 Q8TB36,P43243 2 |
| Abnormal basal ganglia mri signal intensity 0.3434896259303111 0.7820013060995259 0.4342138060075813 1.0 0.9022321767781688 32 Q7KZN9,Q9P0J0,P16278,P00846,Q96CU9,Q9GZY8 6 |
| Abnormal liver morphology 0.3171652336026802 0.7815414951157864 0.4344840812571726 1.0 0.9023900149187432 256 Q7KZN9,O43676,P08236,P02545,Q9NPL8,Q8N511,P16278,Q9NZJ7,P15586,Q9NWS8,O75880,P00846,Q6PGP7,Q96CU9,P40855,Q14108,Q9UGP8,P04066,P56589,Q96RL7,P50416,Q86SQ9,P09601,Q7Z4L5,Q96A33,P28070,Q9H0U3,Q01844,Q5HYI8,P11166,O75381,O96000,P51798,Q15067,Q9HC21,P35610,Q13510,O43772,Q86Y39,Q15904,P22626,P07602,Q8IUX1,O75431,P54802,Q9Y6M9,P36551,Q9Y619,P14927,O75845,P33991,P39210,P55263,Q9HC07,P04062,Q03252,Q14739,Q9BT22,P00374,P10619,O15118,P00813,Q9NVI7,Q96HY6,P23786,Q5XKP0 66 |
| Abnormal anterior chamber morphology 0.5662248307358935 0.780486043761055 0.4351048391591514 1.0 0.9023945107075926 5 Q8NCH0 1 |
| Ovotestis 0.7186870141088508 0.7780000532472932 0.436568981823487 1.0 0.9028237846361454 2 P53701 1 |
| Hemiparesis 0.4041415453158579 0.7779251318615104 0.4366131513507905 1.0 0.9028237846361454 18 P11166,Q9NZ08,P00403,P01889 4 |
| Hammertoe 0.3995952704288604 0.7768827877485927 0.4372279271096664 1.0 0.9028237846361454 19 Q99720,Q9NR77 2 |
| Laryngeal dystonia 0.7425542255310678 0.7759077821728582 0.4378034373386303 1.0 0.9028237846361454 3 Q96RL7 1 |
| Generalized amyotrophy 0.3488938682704401 0.7749459399593002 0.4383716044818113 1.0 0.9035941993846124 28 Q8IY17,Q03252,P02545,P22626,P13473,P09651,P06753,Q99567,P35637,Q9Y2U8,O43819,Q13501 12 |
| Hiatus hernia 0.4817814898760868 0.7741900218979428 0.4388184280636231 1.0 0.9041139218844124 8 Q8NBU5,P57740,Q8NCH0 3 |
| Eeg with polyspike wave complexes 0.4815513087661385 0.7730034635381217 0.4395203308579556 1.0 0.904928032012874 8 Q9Y2B2,Q14108 2 |
| Duplication of the distal phalanx of hand 0.7172473365966137 0.7724909380773524 0.4398237120013766 1.0 0.904980646227024 2 Q8WVQ1 1 |
| Emphysema 0.4812182329150571 0.771286857210726 0.4405369207669309 1.0 0.9052448938237287 8 Q03518,P02545 2 |
| Curly hair 0.4518575643810951 0.766455480478714 0.4434053319373328 1.0 0.9069520701400304 10 Q6PGP7,Q96A33 2 |
| Constriction of peripheral visual field 0.3880886293628351 0.7658152328662752 0.4437862491050386 1.0 0.9069520701400304 21 Q9H061,P00846,O60313,P40855,O75381 5 |
| Decreased adipose tissue 0.406161383533197 0.7645551758837087 0.4445364692158979 1.0 0.9069520701400304 17 O75844,O75431,P02545 3 |
| Petechiae 0.4374460386894306 0.7643012514057108 0.4446877398167204 1.0 0.9069520701400304 12 P04062 1 |
| Oculomotor apraxia 0.3474443845159386 0.7620917503131205 0.4460052462087374 1.0 0.908129618953218 28 O43924,P04062,P05067,O14773 4 |
| Abnormality of skeletal muscle fiber size 0.3768847082568011 0.7614973850734703 0.4463600401491689 1.0 0.90836810975142 23 P02545,P22626,P06753,O75190,Q9BPX6,O60313,Q96RR1,O95831,Q13501 9 |
| Abnormality of pain sensation 0.347121449505443 0.7592298428369881 0.4477150770323121 1.0 0.90983725981567 28 Q9NR77,Q8NCH0,O15269,P07196,O95831,P39210 6 |
| Easy fatigability 0.381506508105485 0.758216971572458 0.4483211027585363 1.0 0.90983725981567 22 Q8IUX1,P53007,P06753,P21912,P61978,Q53H12,Q96RR1,P12235,Q9NWM8 9 |
| Subacute progressive viral hepatitis 0.5606305775833099 0.7564537248263281 0.4493772071426787 1.0 0.90983725981567 5 P04637,P11717 2 |
| Viral hepatitis 0.5606305775833099 0.7564537248263281 0.4493772071426787 1.0 0.90983725981567 5 P04637,P11717 2 |
| Aplasia hypoplasia of the breasts 0.4778033283745141 0.7537125768281998 0.4510218282709326 1.0 0.9110307452944664 8 Q9Y619 1 |
| Generalized onset seizure 0.2864226335494352 0.7524373840292415 0.4517880720097236 1.0 0.9110307452944664 105 P16278,Q9Y320,Q9NZJ7,P00846,Q14108,Q86SQ9,Q01105,P21912,P61978,Q9NW15,Q9NZ01,P11166,Q96N66,O75503,Q13510,P07602,Q9Y619,P04062,P00374,Q9NVI7 20 |
| Vertebral compression fracture 0.4076987744843851 0.7512878031407624 0.4524794679486217 1.0 0.91182168792666 16 P04062,O75718,Q14108,Q32P28 4 |
| Hypocalcemia 0.3999423903489143 0.7488013975166604 0.453976917297382 1.0 0.9131490213011132 18 P21964,P51798 2 |
| Bone marrow foam cells 0.7349160626383171 0.7487327128133833 0.454018322606432 1.0 0.9131490213011132 3 O15118 1 |
| Laryngeal cleft 0.7106248200403096 0.7472727491589525 0.4548989383625308 1.0 0.9145240994612958 2 Q01082 1 |
| Scarring 0.3385803052802052 0.7408156225709915 0.458805241410916 1.0 0.9195906521848486 35 Q8NCH0,Q96L58,P04439,P36551,Q92542,Q9NWM8,Q15125 7 |
| Pharyngitis 0.6406867352838878 0.7400991871865806 0.4592398118793692 1.0 0.9200645756547846 4 P01889,Q9BV10 2 |
| Abnormal urine magnesium concentration 0.7083213360207378 0.7385504547897295 0.4601800188884266 1.0 0.921117286211118 2 P05023 1 |
| Delayed fine motor development 0.446729161932115 0.7378162447349024 0.4606261203748245 1.0 0.921117286211118 10 P51798,P16435 2 |
| Limitation of movement at ankles 0.6390325901779023 0.7337425310491962 0.4631056719151689 1.0 0.9242212034267488 4 O75844 1 |
| Urinary urgency 0.4598575824441753 0.7325945972497001 0.4638057273044849 1.0 0.9244726680393422 9 Q9UBB4,P20700,Q8WVX9,P04062 4 |
| Generalized hyperpigmentation 0.4194187488242249 0.7325566492902685 0.4638288795287828 1.0 0.9244726680393422 14 P51648 1 |
| Peripheral neuropathy 0.3050622582014516 0.7288094148606081 0.4661182516805753 1.0 0.9266494695225136 180 Q9NR77,Q7KZN9,Q8IV08,Q9NPL8,Q9P0J0,Q9NZJ7,Q9NWS8,Q9Y2R0,P00846,O60313,P41440,Q96CU9,Q9GZY8,O15121,P00403,P04066,Q96RL7,P01889,Q13217,O76024,Q15041,P12235,O43819,Q15067,Q9HC21,Q10713,P22626,O15460,P07602,P54802,P07196,Q9BPX6,Q8N2K0,P36551,P05023,Q5KU26,O95831,P39210,O15269,O95721,Q9NVI7,O95470 42 |
| Abnormal epidermal morphology 0.3880847487648025 0.7281811209427158 0.466502721018736 1.0 0.9270169603812622 20 P01889,P16615,P02545,Q06136,P98194,O75844 6 |
| Abnormality of the clitoris 0.3926173328156944 0.7274064876303695 0.4669769813992466 1.0 0.9275624899991878 19 P53701,O75381,P16435,Q9Y619,P40855 5 |
| Kyphoscoliosis 0.3106129083231511 0.7236806583424497 0.4692618101805916 1.0 0.928022503681665 59 Q9HC07,Q9NR77,Q9Y487,Q8NCH0,O75844,Q9NWM8 6 |
| Synostosis of joints 0.3367771440673966 0.7235415814696655 0.4693472172555593 1.0 0.928022503681665 35 P48651,Q9UHX1,O96028,Q96L58,Q9Y4P3,Q8WVQ1,P16435,O95202 8 |
| Telecanthus 0.330718108004488 0.7228539157186191 0.4697696389280623 1.0 0.928022503681665 45 P21964,P02545,Q03164,Q8NCH0,Q86XL3,O75844,Q15125 7 |
| Aplasia hypoplasia involving the skeletal musculature 0.4717536182630865 0.7227002416229352 0.4698640670935941 1.0 0.928022503681665 8 Q9NR77,Q9Y487 2 |
| Anophthalmia 0.4439137850743406 0.7221438159977197 0.4702060618352621 1.0 0.928022503681665 10 P53701,O43505 2 |
| Retinal dystrophy 0.3081058542671271 0.7217033433099342 0.470476886131367 1.0 0.928162557006826 60 P56589,Q6P4Q7,Q86SQ9,Q9H2C2,P38435,O43505,Q8N2K0,P00846,P53701,O75381,P40855,Q15067 12 |
| Abnormal renal pelvis morphology 0.3079678652027377 0.7199580019294795 0.4715508542673525 1.0 0.9290972283485724 60 P56589,Q8NCH0,P16435,Q9Y2B2,P20700,O76024,P98175,O43505,O75381,P23786,O75718,P40855,Q15125 13 |
| Visual fixation instability 0.6352701996262777 0.7193248018994157 0.4719408177658364 1.0 0.9292848291673452 4 Q13510 1 |
| Sporadic 0.3425902080070871 0.7191536123108868 0.4720462773483564 1.0 0.9292848291673452 28 P04062,Q03252,P48651,O96028,O95202 5 |
| Cupped ribs 0.4704152857923347 0.7158621099116932 0.474076496573266 1.0 0.9311818633803683 8 Q96L58,P49585,P00813,O95831 4 |
| Myalgia 0.3300151502689573 0.7154216606354687 0.4743485319930802 1.0 0.9311818633803683 45 P01889,P02545,Q14739,P21964,Q9NZ08,P20700,Q8IUX1,O60313,P23786,P12235,P46020,P06280 12 |
| Sclerocornea 0.4291009244687943 0.7153553535048391 0.4743894928020848 1.0 0.9311818633803683 12 O96028,O75569,Q9UBM7,P53701,Q6NUK1,Q9P273,O95202 7 |
| Abnormal cervical spine morphology 0.5509355270786418 0.7150990378903661 0.4745478484167142 1.0 0.9311818633803683 5 Q8NCH0 1 |
| Abnormal corpus striatum morphology 0.3950212241003323 0.7147872735717437 0.4747405001948181 1.0 0.9311818633803683 18 P49792,P00846,Q96RL7,O95831 4 |
| Abnormal gastrointestinal motility 0.3356521574741611 0.7126115229924315 0.4760861793503648 1.0 0.93131601385977 30 P11802,P04637,Q01844,P03915,O76024,P36551,P61978,P35637,Q96RR1,P16930,Q5HYI8,P00403,P06280 13 |
| Abnormal urine carbohydrate level 0.4222191130003993 0.7099751447879226 0.4777195495442454 1.0 0.933724574109207 13 Q9UJS0,P04637,O00754,P16278,Q6PGP7,P04066 6 |
| Agenesis of cerebellar vermis 0.7238017441850781 0.7095825577643087 0.4779630390548925 1.0 0.933807468814018 3 O43924 1 |
| Scanning speech 0.7235023041474725 0.7085346069451809 0.4786133291239696 1.0 0.9339076308012164 3 Q9UBB4,O14773 2 |
| Status epilepticus with prominent motor symptoms 0.7229898771032277 0.7067421265589291 0.4797267452750833 1.0 0.9339305841006604 3 Q13510 1 |
| Polycystic liver disease 0.6318493659565423 0.7062665589526081 0.4800223855715706 1.0 0.9339305841006604 4 Q9UGP8 1 |
| Absent eyebrow 0.491726918896045 0.7058897147167581 0.4802567242496751 1.0 0.9339305841006604 7 O75844 1 |
| Emg axonal abnormality 0.6993953354448599 0.7050053974394433 0.4808068772450942 1.0 0.9339305841006604 2 Q15120 1 |
| Abnormal metabolic brain imaging by mrs 0.3973451253087268 0.7049503589272785 0.4808411292432835 1.0 0.9339305841006604 17 P07602,P21912,Q9NZJ7,P00403,O43819 5 |
| Abnormal circulating androgen level 0.4149658692087679 0.7049497283784673 0.4808415216590609 1.0 0.9339305841006604 14 Q13423,P04637,Q8WWQ0,P16435 4 |
| Acantholysis 0.5481159031780574 0.7031479168273015 0.4819635732451492 1.0 0.9353275529253962 5 P01889,P16615 2 |
| Abnormality of the pulmonary veins 0.4907826394222488 0.7013687318429671 0.4830729302681544 1.0 0.9359224199722542 7 Q15392 1 |
| Aplasia hypoplasia of the phalanges of the toes 0.630452437722149 0.700948410736762 0.4833352111323479 1.0 0.9360336615924202 4 P02545 1 |
| Widened cerebral subarachnoid space 0.6296525269827984 0.6979069370210397 0.4852353958244917 1.0 0.9374205496742252 4 P00403 1 |
| Abnormality of the antitragus 0.6291913470214198 0.6961546812030716 0.4863319652515367 1.0 0.9380092737027964 4 Q8IY17,Q92643 2 |
| Absent septum pellucidum 0.3340612382536563 0.6951157815389917 0.4869827453881048 1.0 0.9382466893832742 34 P48651,O43505,P53701,P51571,Q15392,O95202,Q96N66 7 |
| Hypoplastic nipples 0.4323925722514236 0.6945074329336314 0.4873640410678004 1.0 0.9382466893832742 11 Q9Y2B2,Q96A33 2 |
| Obstructive sleep apnea 0.4254834163977604 0.6942480419129932 0.4875266690183895 1.0 0.9382466893832742 12 P51530,Q15233,Q969N2,P53007,Q96A33,P51114 6 |
| Webbed neck 0.3320956068459833 0.6939549068450764 0.4877104884089629 1.0 0.9382466893832742 38 P02545,Q03164,Q9Y2B2,O75844,P46783,O95202 6 |
| Flattened epiphysis 0.6284472126597107 0.6933293162157792 0.4881029093762921 1.0 0.9386127996453418 4 O95831 1 |
| B cell lymphoma 0.6280400434515161 0.6917843962156697 0.4890727371512917 1.0 0.9396995413035164 4 P00813 1 |
| Abnormality of macular pigmentation 0.6277811201358993 0.6908023492065439 0.4896897590656088 1.0 0.940495964061492 4 Q9UM00 1 |
| Lower limb hyperreflexia 0.391147579358491 0.6881145793092558 0.4913806301281536 1.0 0.9409880063802348 18 P21912,Q14739,P13073,Q15041 4 |
| Tongue nodules 0.717376669639435 0.6871795978024378 0.4919695594144624 1.0 0.9409880063802348 3 O43924 1 |
| Tongue fasciculations 0.4116278335734471 0.684328140684574 0.4937679810594728 1.0 0.9409880063802348 14 Q9BQT8,Q13510 2 |
| Aplasia hypoplasia of the nipples 0.3941363500922343 0.6833684114307929 0.4943740753761041 1.0 0.9409880063802348 17 O95202,Q9Y2B2,Q96A33,P10586 4 |
| Overlapping toe 0.3617108041666115 0.6830008359732211 0.4946063142924533 1.0 0.9409880063802348 24 Q15907,Q9UHX1,Q9UM00,Q96A33,Q15125 5 |
| Abnormal umbilicus morphology 0.3024814512759811 0.6812771163156299 0.4956961602219731 1.0 0.942092548981998 61 P08236,Q14739,Q9Y487,Q8NCH0,P21964,O75844,Q9NWM8 7 |
| Severe global developmental delay 0.2939715847567286 0.6805858960617519 0.4961335537440927 1.0 0.942092548981998 75 P55263,Q15067,Q7LGA3,O00584,Q9BT22,O15121,Q9H490,Q96A33,P00846,Q7RTS9,Q9BV10,P40855,Q9HC21 13 |
| Soft skin 0.449993510830914 0.6801836855944489 0.4963881610583303 1.0 0.942092548981998 9 O00754,Q96L58,Q9NWM8 3 |
| Heterotropia 0.3150049623644505 0.678877999444585 0.4972151666803344 1.0 0.9423328025037172 55 O43924,Q15233,P04062,Q9UHX1,Q9Y2B2,P20700,P53007,Q9NVI7,Q9P273,P00387,Q5KU26,O43819,P55795 13 |
| Abnormal arachnoid mater morphology 0.4356753548976296 0.6765112263237966 0.4987161208244544 1.0 0.9426824781245798 10 Q9UHX1 1 |
| Pleural effusion 0.4223640233110334 0.6761069560241648 0.4989727405605277 1.0 0.9427296204894592 12 Q9NZ08,Q14739 2 |
| Aplasia hypoplasia affecting the eye 0.2841480101983922 0.6749819682722371 0.4996872211896606 1.0 0.9433119736604813 101 O43924,O95202,O96028,P21912,P61978,Q9P273,P11166,Q7LGA3,Q9UHX1,O75569,P37268,P07196,Q9Y4P3,Q15125,P21964,O43505,P53701,Q9NVI7,O95721 19 |
| Poor motor coordination 0.4100553594527718 0.6746372838150961 0.4999062392098694 1.0 0.9433250599435494 14 O75503 1 |
| Central diabetes insipidus 0.6910452058738963 0.674012233172473 0.5003035363137021 1.0 0.9433250599435494 2 O76024 1 |
| Retinal fold 0.6910452058738843 0.6740122331724291 0.50030353631373 1.0 0.9433250599435494 2 P52732 1 |
| B lymphocytopenia 0.448705278100644 0.6733766506484851 0.500707699400468 1.0 0.9433741187327532 9 P00813 1 |
| Abnormal circulating igm level 0.3958834279030893 0.6733324201357308 0.5007358317562955 1.0 0.9433741187327532 16 Q15904,P00813 2 |
| Emotional lability 0.3017761263646669 0.6722588781016982 0.5014189038448611 1.0 0.9435191878903544 61 Q7KZN9,Q96RL7,P07602,Q9P0J0,Q9NZJ7,Q92804,Q15165 7 |
| Myositis 0.4283589404865229 0.6716608028164116 0.5017996604223609 1.0 0.9435191878903544 11 P28070,Q9NZ08,P01889 3 |
| Abnormal subcutaneous fat tissue distribution 0.6226763932199583 0.6715033648385947 0.5018999166302349 1.0 0.9435191878903544 4 Q9Y487 1 |
| Infantile muscular hypotonia 0.2937152968313218 0.671379710899023 0.5019786666581156 1.0 0.9435191878903544 71 Q9Y487,Q13510,P07602,Q9Y2B2,P16278,P16219,Q9NZJ7,Q13724,P00846,P36543,P17900,Q9GZY8,O43819 13 |
| Weak cry 0.447725639926298 0.668206526084159 0.504001770246568 1.0 0.9440131989314788 9 O60313,P06753,Q13510 3 |
| Subcapsular cataract 0.5061057403057531 0.6672361542345658 0.5046213008373821 1.0 0.944276779441086 6 Q9H6K4 1 |
| Dysphonia 0.3307860830505221 0.6642124192011196 0.5065543658941878 1.0 0.9468630561349712 34 Q6DKK2,Q15233,Q96RL7,Q13510,O75569,Q02978,P20700,P53007,P21912,Q9Y4P3 10 |
| Persistent head lag 0.4829451267508785 0.6640182354811417 0.5066786398914938 1.0 0.9468630561349712 7 Q5XKP0,Q15233 2 |
| Aortic regurgitation 0.3539521955699067 0.6637201914087021 0.5068694137707879 1.0 0.9468630561349712 25 P02545,Q9UHX1,Q9NZ08,Q6PGP7,O75844 5 |
| Fractures of the long bones 0.6200619754808034 0.6616664655032279 0.5081850008095663 1.0 0.9475498521432392 4 Q13126,P51798 2 |
| Abnormality of the pubic bone 0.4463638266517041 0.6610286744493176 0.508593924704045 1.0 0.9475498521432392 9 O96028,Q8IZA0,Q14999,Q7RTS9,O95202 5 |
| Retrognathia 0.290960885987695 0.6610074087999009 0.5086075622850244 1.0 0.9475498521432392 83 P04062,Q7LGA3,Q8NCH0,Q9UHX1,P02545,P37268,P53701,O75844,Q15392,Q15125,Q9Y619 11 |
| Hypoparathyroidism 0.4137284538537245 0.6591573398338718 0.5097947379718164 1.0 0.9475498521432392 13 P00403 1 |
| Irritability 0.2905220901459617 0.6586919713099506 0.5100935896550598 1.0 0.9475498521432392 84 Q96RL7,P01889,Q13510,O43772,P50897,P07602,Q9NZ08,P37268,Q9NZJ7,P00846,P11166,O95831,Q15067 13 |
| Alopecia totalis 0.5041145170506749 0.6583459466968575 0.5103158601183564 1.0 0.94758370827255 6 O75844 1 |
| Vertigo 0.3531465928985121 0.657187487170805 0.5110603702758665 1.0 0.9482078943512282 25 P01889,O15460,Q9NZ08,Q02978,P21912,P0DP25,Q6UN15,P06280 8 |
| Bruxism 0.4801756681620214 0.6508988337027677 0.515111794377499 1.0 0.9491999825188984 7 Q96RL7 1 |
| Respiratory insufficiency 0.302640255409943 0.6508260779178863 0.5151587642365496 1.0 0.9491999825188984 189 Q9NR77,O43676,P02545,Q9NPL8,Q9NZJ7,O43464,Q15165,Q96CU9,P40855,Q9UGP8,P56589,Q9BTV4,Q96L58,Q70HW3,Q7Z4L5,O76024,P35637,Q53H12,Q7RTS9,P12235,O75381,O43819,O96000,P06280,Q15067,Q13510,O43772,Q86Y39,P07602,Q14999,P13473,Q8IUX1,Q9Y6M9,P36551,Q9Y619,Q9HCC0,O95831,P33991,Q5XKP0,Q14739,Q9BT22,P50402,P53701,Q8WVQ1,P23786,Q92804 46 |
| Short digit 0.2969045112406613 0.6497058574111958 0.5158822396254075 1.0 0.9491999825188984 166 O43924,Q9NX62,P02545,P13073,O95202,Q13555,Q03164,O96028,Q9Y2B2,Q7Z4L5,Q06136,Q7RTS9,O75844,P11166,P51798,Q7LGA3,Q13510,Q9UHX1,O95831,Q03252,P48651,Q14739,P38435,P00813,Q8WVQ1,P16435,P46783 27 |
| Paraplegia 0.3023181520647344 0.648734101992942 0.5165102580339829 1.0 0.9491999825188984 60 P04062,Q7KZN9,Q96L58,Q9P0J0,P00846,O60313,Q9Y619,Q96CU9,P11166,O95831 10 |
| Pelvic kidney 0.4570108630736994 0.6478839138786834 0.5170600357153989 1.0 0.9491999825188984 8 Q9UHX1 1 |
| Impaired pain sensation 0.3763781130696002 0.6438142201992071 0.5196959114398032 1.0 0.9491999825188984 20 Q9NR77,O15269,P07196,O95831,P39210 5 |
| Inflammation of the large intestine 0.4111332268764251 0.6437159572444258 0.5197596403940281 1.0 0.9491999825188984 13 Q6PGP7,P08183 2 |
| Abnormal erythrocyte enzyme level 0.3762545407539902 0.6429291511894261 0.5202700729218552 1.0 0.9491999825188984 20 P00813,Q96RL7 2 |
| Aplasia hypoplasia of the thymus 0.3912122915238622 0.6427584287912163 0.5203808614699641 1.0 0.9491999825188984 16 P00813,P21964 2 |
| Abnormality of the thymus 0.3912122915238622 0.6427584287912163 0.5203808614699641 1.0 0.9491999825188984 16 P00813,P21964 2 |
| Reduced subcutaneous adipose tissue 0.42320050921231 0.6425868225194875 0.5204922358511532 1.0 0.9491999825188984 11 O75844,P36543,P02545 3 |
| Red green dyschromatopsia 0.703692159919071 0.6400790144951809 0.52212123142321 1.0 0.9502665984090022 3 Q9H6K4 1 |
| Inappropriate crying 0.477814028734765 0.6397460374040181 0.5223377201155064 1.0 0.9502665984090022 7 P07602 1 |
| Uveal melanoma 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Choroidal melanoma 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Metamorphopsia 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Inferior lens subluxation 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Photopsia 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Mydriasis 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Abnormal ciliary body morphology 0.7025064116309915 0.6360396489439735 0.524750579738829 1.0 0.950275737675468 3 O75533 1 |
| Osteolysis 0.3275189635602121 0.6354996070084089 0.5251026229493347 1.0 0.950275737675468 31 P04062,P02545,Q9Y2B2,O75844,Q14108 5 |
| Urticaria 0.4281655055497508 0.6352513070319429 0.5252645256040602 1.0 0.950275737675468 10 P51648 1 |
| Abnormal liver physiology 0.4986503292993633 0.6340611922930571 0.5260408879370639 1.0 0.9509279422264402 6 Q13510 1 |
| Short clavicles 0.4410759814006849 0.6332640973453783 0.52656119454103 1.0 0.9511280386808804 9 O75844,P02545 2 |
| Arnold chiari type i malformation 0.4758669682966933 0.6305759640191084 0.5283178189638911 1.0 0.9526054127742856 7 Q15233,Q9UNW9 2 |
| Abnormal hair laboratory examination 0.475676330681426 0.6296793534180882 0.5289043935603814 1.0 0.9526054127742856 7 P02545 1 |
| Abnormal labia majora morphology 0.4207322902901374 0.6287369769375105 0.5295212658540918 1.0 0.9526054127742856 11 P49711,Q6NUK1,P16435,Q9Y619,O60885 5 |
| Hypoplastic labia majora 0.4207322902901374 0.6287369769375105 0.5295212658540918 1.0 0.9526054127742856 11 P49711,Q6NUK1,P16435,Q9Y619,O60885 5 |
| Serositis 0.3643197769948821 0.627664684301334 0.5302236249194987 1.0 0.952795175850868 22 P01889,Q92621,Q8NFH4,O15460,Q12769,Q9NZ08,Q8N1F7,P14174,P57740 9 |
| Joint laxity 0.2901088739981422 0.6266256862563946 0.5309046268818916 1.0 0.9528722135880378 75 P16278,Q969G3,P36543,O00754,Q15233,Q9Y487,Q96L58,Q96A33,P61978,Q9UHX1,P53007,Q9Y4P3,Q9Y619,P55795,Q9HC07,Q32P28,Q8NCH0,Q8WWQ0,Q8WVQ1,Q96HY6 20 |
| Abnormal circulating estrogen level 0.4203253367354551 0.6264574766901901 0.5310149200615508 1.0 0.9528722135880378 11 P04637,Q969G3,P16435,P51809,P57740 5 |
| Hydrocele testis 0.5294249628520122 0.6249200457066146 0.5320235351652256 1.0 0.9539840293791298 5 Q9UBX3,Q9NVI7 2 |
| Anhidrosis 0.4964519681915943 0.6243389486025774 0.5324050102385147 1.0 0.9539840293791298 6 P04066 1 |
| Abnormality of the carpal bones 0.3852959895586058 0.6242805191045928 0.5324433753384379 1.0 0.9539840293791298 17 Q8WVQ1,Q7RTS9,Q15125,P16435 4 |
| Malabsorption 0.3066884563028815 0.6239204521513635 0.5326798279777636 1.0 0.9539840293791298 57 P56589,P01889,Q14739,Q9NZ08,P09601,O76024,Q96A33,Q9Y4P3,P14174,O75381,Q9NZ71,P40855,P06280 13 |
| Abnormal aortic valve cusp morphology 0.3541867201264592 0.623500539795993 0.5329556476424324 1.0 0.9539840293791298 24 Q9UHX1,Q96L58,P37268,Q9Y4P3,Q6PGP7 5 |
| Tracheal stenosis 0.5287812830196209 0.6222597730100811 0.5337710678779028 1.0 0.9539840293791298 5 Q15125 1 |
| Glaucoma 0.2843375181668282 0.6215037242577238 0.5342682448480407 1.0 0.9539840293791298 94 P56589,P21964,Q8NCH0,Q86SQ9,Q96L58,O76024,Q06136,O43505,P12235,P53701,Q8WVQ1,Q86XL3,O75381,Q9Y4P3,Q6PGP7,P46783,P40855,Q15125 18 |
| Abnormality of limb epiphysis morphology 0.325944218907522 0.6211355635235061 0.5345104316202618 1.0 0.9539840293791298 31 Q7LGA3,O96028,Q8WVQ1,Q7RTS9,P16435,O95202,O95831 7 |
| Elevated gamma glutamyltransferase level 0.6088815046311465 0.6199840230670657 0.5352683056901919 1.0 0.9542364727928028 4 Q5XKP0 1 |
| Localized osteoporosis 0.6757846242441703 0.6184344176706085 0.5362890161070304 1.0 0.9553040916580738 2 P57740 1 |
| Abnormality of blood circulation 0.289499463067345 0.6181381199826753 0.5364842960904945 1.0 0.9553040916580738 75 P02545,Q9NZ08,Q02978,P36543,Q9UGP8,Q9UJS0,Q9Y487,P01889,P05067,O76024,P21912,P16930,O75844,Q9UHX1,P49257,P04062,Q14739,P21964,P49792,P38435,P23786 21 |
| Cerebellar cortical atrophy 0.6970046082949377 0.6173896309170136 0.5369777597043834 1.0 0.9554500827843512 3 Q9Y263,O75845 2 |
| Abnormality of pancreas physiology 0.3204937670412591 0.6153369454108644 0.5383322234629082 1.0 0.9561495496373676 45 P01889,P02545,Q9UHX1,Q14739,P09601,Q9NZ08,Q5HYI8,P00403,P53985 9 |
| Abnormal glomerular mesangium morphology 0.380321193645494 0.6141332694789884 0.5391272650417407 1.0 0.9561495496373676 18 Q92621,Q8NFH4,Q12769,P00813,Q8N1F7,O95470,P57740 7 |
| Lower limb muscle weakness 0.3206950453080056 0.6097032437218018 0.5420584054283486 1.0 0.9592762453342908 43 P07196,Q9NR77,P00846,Q13510 4 |
| Nocturia 0.6944896947207704 0.6089164932416562 0.5425797913601027 1.0 0.9592762453342908 3 P12235 1 |
| Multiple mitochondrial dna deletions 0.6944896947207704 0.6089164932416562 0.5425797913601027 1.0 0.9592762453342908 3 P12235 1 |
| Neonatal death 0.3993028271377515 0.608826140488522 0.5426396848607196 1.0 0.9592762453342908 14 P04062,O96000 2 |
| Peripheral pulmonary artery stenosis 0.4230795150984163 0.6075169428319737 0.5435079021728726 1.0 0.9594189168559868 10 Q6PGP7,Q9Y2B2 2 |
| Macular atrophy 0.4489386576552399 0.6074583674419177 0.5435467636193154 1.0 0.9594189168559868 8 P04062 1 |
| Gait disturbance 0.3005736975540164 0.6055772851259086 0.544795489740409 1.0 0.9609258538753984 334 O43924,Q9NR77,P02545,Q8IV08,Q9NZ08,P16278,Q9NZJ7,P00846,O60313,O43464,P41440,Q96CU9,Q9GZY8,P00403,Q14108,O14949,Q96RL7,P01889,Q03164,Q99720,Q9H6K4,Q9H2C2,P05067,Q9Y2B2,Q9BTV4,P21912,P35637,Q7RTS9,Q15041,O75844,Q9NW15,P11166,P12235,Q96N66,Q15067,Q15907,Q9HC21,Q7LGA3,O75503,Q13510,O75569,P22626,P07602,P13473,P20700,Q9BPX6,P07196,Q9Y4P3,Q9Y619,Q9BQT8,O95831,P55795,P39210,P04062,Q03252,O15269,P49792,O15118,P50402,O14773,Q8WVQ1,Q9NVI7,Q5XKP0,Q96D71 64 |
| Spinal deformities 0.693349451711951 0.6050858355925247 0.545121965188148 1.0 0.9609258538753984 3 P53007 1 |
| Mandibular prognathia 0.3203652654184239 0.604407104821869 0.5455730133076275 1.0 0.9609258538753984 42 P48651,Q9UHX1,Q9Y2B2,P16278,Q7RTS9 5 |
| Aphthous ulcer 0.4701409860504594 0.6037451630296675 0.5460130826333027 1.0 0.9609258538753984 7 Q9NZ08 1 |
| Motor seizure 0.2752378333384503 0.6032553307118409 0.546338844124346 1.0 0.9609258538753984 108 P04062,Q5XKP0,O75503,Q13510,Q9UBX3,P07602,Q01105,P16278,Q9NZJ7,P00846,P13073,Q9Y619,Q9GZY8,P11166,Q96N66 15 |
| Abnormality of the auditory canal 0.3703191704784218 0.6005756680380941 0.5481226482640396 1.0 0.9609258538753984 20 Q9Y619,P16435,O95202,O96028 4 |
| Gliosis 0.3177228767182607 0.5989050153603884 0.5492362267702207 1.0 0.9609258538753984 47 P04062,Q7KZN9,Q9NZB8,Q9H9P8,P49792,P20700,P35637,P00846,O43819 9 |
| Prominent nasal bridge 0.3079510477619816 0.5962391431934374 0.5510154796277713 1.0 0.9609258538753984 55 O43924,P78318,Q15233,P42892,P21964,P20700,Q9Y2B2,P13073,Q9BV10,O95721,Q15125 11 |
| Aplasia hypoplasia of the scapulae 0.4896913050157073 0.5946240912938003 0.5520947726998804 1.0 0.9609258538753984 6 Q15738,Q7RTS9,P16435 3 |
| Lissencephaly 0.3077928198130222 0.594395348738261 0.5522477186974282 1.0 0.9609258538753984 55 Q9NP72,Q9Y320,Q9NWS8,Q9BSJ2,P36543,Q6ZXV5,Q9Y487,Q9HC21,P42356,Q15058,P20700,Q9BV10,Q16625,Q15392,P57740,Q15738,O43505,P07942,Q86XL3,P23786,O95721 21 |
| Lymphopenia 0.322009602630495 0.5934544454290338 0.5528770611906793 1.0 0.9609258538753984 29 Q6PGP7,P00813,P28070,O95470 4 |
| Thoracolumbar kyphosis 0.4893457637521637 0.5931131202728952 0.5531054504339663 1.0 0.9609258538753984 6 P04062 1 |
| Corneal ulceration 0.5216646992416539 0.593013707981368 0.5531719783935212 1.0 0.9609258538753984 5 O75844 1 |
| Inflammatory abnormality of the eye 0.3190786437521118 0.5913697288106016 0.5542727183983354 1.0 0.9609258538753984 42 Q14739,P01889,Q9NZ08,P28070,P51648,Q15800 6 |
| Sudden episodic apnea 0.6008037200499449 0.5902859606672817 0.554998950101038 1.0 0.9609258538753984 4 O43772 1 |
| Abnormality of central nervous system electrophysiology 0.2894702807412259 0.5892510229565198 0.5556928944040997 1.0 0.9609258538753984 153 Q9BQE5,Q9UBX3,P50897,Q9NZJ7,Q9BSJ2,O60313,P13073,Q9GZY8,O95202,P00403,Q14108,P40855,P56589,O96028,Q86SQ9,Q9H2C2,Q9Y2B2,Q96A33,Q9NZ01,P11166,O75381,Q96N66,Q15067,O75503,P07602,P20700,P07196,Q15125,P21964,Q9NQZ5 30 |
| Dysarthria 0.2947646871220846 0.5890338533993548 0.5558385642392356 1.0 0.9609258538753984 171 Q6DKK2,Q7KZN9,Q8IV08,Q9P0J0,Q9NZJ7,P15586,P00846,P41440,Q96CU9,O15121,Q14108,Q96RL7,Q9H6K4,O76024,P35637,Q9NW15,P11166,P12235,O75503,O75569,P07602,P20700,P07196,Q8N2K0,Q9Y4P3,P04062,O15118,O14773,P51648,Q5XKP0,Q96D71 31 |
| Red eye 0.3686886001513774 0.5889980011861752 0.5558626144573471 1.0 0.9609258538753984 20 Q14739,Q9NZ08,P28070 3 |
| Abnormal connection of the cardiac segments 0.3087679041168368 0.5871525083317999 0.557101285014884 1.0 0.9609258538753984 54 P01889,P02545,Q9UHX1,P21964,Q9Y2B2,Q9Y4P3,Q6PGP7,O75844,P40855 9 |
| Scapular winging 0.3543468617840078 0.586937408765787 0.5572457444544461 1.0 0.9609258538753984 23 Q9Y487,P02545,Q9BTV4,Q14999,P50402,P07196,O60313 7 |
| Long fingers 0.2860370343595974 0.5865079804176303 0.5575342002300716 1.0 0.9609258538753984 82 Q15907,P42892,Q03252,P21964,Q8NCH0,Q9UHX1,Q03164,O96028,Q06136,Q9BV10,P16435,O95202,Q15125,P55795 14 |
| Constipation 0.2806008951032571 0.5858225227197256 0.5579947866809403 1.0 0.9609258538753984 97 Q13423,O43464,P00403,Q03164,O76024,P21912,P12235,Q7LGA3,P20700,P37268,P36551,Q9Y4P3,P55795,P04062,P42892,Q03252,P21964,Q8NCH0,P16435 19 |
| Extramedullary hematopoiesis 0.6875531148381223 0.5857217932841277 0.5580624864117274 1.0 0.9609258538753984 3 Q14739 1 |
| Aplasia hypoplasia of the lungs 0.3223399482577786 0.585114240294283 0.558470904308721 1.0 0.9609258538753984 34 Q14739,P02545,O96028,Q96L58,Q7Z4L5,O75844,O95202,O96000 8 |
| Arthrogryposis multiplex congenita 0.3218308355137961 0.5843224139594795 0.5590034149934793 1.0 0.9614858737887844 36 O75844,Q15392,Q8NCH0,P04062 4 |
| Cold induced muscle cramps 0.6861186049791418 0.5809581643472396 0.5612686498046744 1.0 0.962530136518799 3 Q9NR77 1 |
| Fragile nails 0.418005974014428 0.5800372400795144 0.5618895048525085 1.0 0.9629762074286216 10 Q9Y487,P02545 2 |
| Abnormality of the nasal dorsum 0.3009388593445254 0.578362646328285 0.5630193074013143 1.0 0.9629762074286216 58 P02545,Q9Y2B2,P16278,O75431,Q8WVQ1,O95721,Q6PGP7,O75844,O95202,Q15125 10 |
| Loss of speech 0.3531911814544081 0.5781132892004454 0.5631876355245771 1.0 0.9629762074286216 23 P17900,P50897,P07602,O15118 4 |
| Fetal akinesia sequence 0.5178521934332313 0.5774770031047256 0.5636172693679491 1.0 0.9632546716193132 5 P04062,P06753 2 |
| Abnormal venous morphology 0.3263643879760282 0.5772577784645816 0.5637653310640167 1.0 0.9632546716193132 28 P21964,P04062,P48651,Q9Y487 4 |
| Deviated nasal septum 0.6631154621364921 0.5734505955898588 0.5663396410607082 1.0 0.9652394038982484 2 Q15233 1 |
| Nyctalopia 0.320094457796577 0.5716726303959604 0.5675437799772258 1.0 0.9658018740250044 30 P56589,Q10713,Q6P4Q7,Q86SQ9,P38435,O75381,P40855 7 |
| Neurofibromas 0.4841412383635284 0.5704512625949424 0.5683716692278769 1.0 0.965972582015504 6 Q969G3,P21912 2 |
| Loss of eyelashes 0.6823346775057997 0.5684489329355146 0.5697301719585339 1.0 0.9662951719582598 3 O75844 1 |
| Optic disc coloboma 0.5945548522815585 0.5675721531272114 0.5703255202060293 1.0 0.9662951719582598 4 P78318 1 |
| Posterior pituitary dysgenesis 0.5945101421364427 0.5674104923704705 0.5704353229469135 1.0 0.9662951719582598 4 Q8WWQ0,Q9UHX1 2 |
| Synostosis involving digits 0.5151216846903655 0.5664087645567597 0.5711159380531565 1.0 0.9662951719582598 5 P48651 1 |
| Aplasia hypoplasia of the eyebrow 0.3157860619764369 0.5663397495911352 0.5711628438900567 1.0 0.9662951719582598 45 P02545,Q9UM00,O75431,P00813,Q9NVI7,O75844,Q15125,Q92643 8 |
| Renal hypoplasia 0.3190822100176533 0.5619627316652248 0.5741414112871106 1.0 0.9685606117114184 37 O43924,P21964,Q9UHX1,Q9NWS8,Q9Y4P3,Q6PGP7 6 |
| Aplasia hypoplasia of the extremities 0.3001659200890074 0.5617934500106031 0.5742567552995081 1.0 0.9685606117114184 202 Q9NX62,P02545,P13073,O95202,Q13555,Q03164,O96028,Q9Y2B2,Q7Z4L5,Q96A33,Q7RTS9,O75844,P51798,Q7LGA3,Q13510,Q9UHX1,O75431,Q9BV10,Q9Y619,Q15392,Q15125,O95831,Q03252,P48651,Q14739,Q32P28,P38435,P46783,P00813,Q8WVQ1,Q96HY6,P16435,O75718 33 |
| Aqueductal stenosis 0.5138328530259293 0.5612020672591881 0.5746597938484084 1.0 0.9685606117114184 5 Q15427,P21359,P57740,Q8WUM0 4 |
| External ear malformation 0.3785394715795454 0.560696208181009 0.5750046525599442 1.0 0.9685606117114184 16 O75381,P40855,Q8NCH0 3 |
| Flared metaphysis 0.4020249531775255 0.5594668363711357 0.5758431583970127 1.0 0.9691112035479424 12 P48651,Q14739,Q96HY6 3 |
| Abnormality of the glabella 0.4386734192231374 0.5567075818253868 0.5777272359015158 1.0 0.9694755850936668 8 O96028,Q01082,O60762,Q75QN2,O95202 5 |
| Constitutional symptom 0.3052211964450922 0.5565364406002634 0.577844190253934 1.0 0.9694755850936668 251 Q9NR77,P02545,Q92621,Q8NFH4,Q13423,Q02978,Q9NZ08,P0DP25,Q9NZJ7,P00846,O60313,O00754,Q15165,Q14108,Q9UGP8,Q9UJS0,P50416,P01889,Q99720,Q9H6K4,Q9BTV4,Q70HW3,P21912,P35637,P28070,Q53H12,O75844,Q15800,Q5HYI8,P11166,Q01844,Q3ZCQ8,P51798,P12235,P06280,P35610,Q13510,O75569,P22626,O15460,P07602,Q8IUX1,P20700,P07196,P36551,Q9Y4P3,O43681,P04062,P42892,Q03252,Q14739,P21964,O15269,P06753,P50402,P14174,Q8N1F7,Q96HY6,P23786,Q92804,P46020 61 |
| Abnormality of the amniotic fluid 0.28040363533212 0.5554595510357596 0.5785803696695744 1.0 0.9694953064249732 93 Q6PGP7,P04062,Q7LGA3,Q14739,P21964,Q9UHX1,Q9BT22,P02545,Q9Y2B2,Q70HW3,Q9BV10,P16435,O75844,Q15125,P51798 15 |
| Myotonia 0.4260310738692878 0.555321011747483 0.578675109396936 1.0 0.9694953064249732 9 P02545,P50402 2 |
| Abnormality of the humerus 0.3903446854914063 0.5547024804792638 0.5790981792753671 1.0 0.9694953064249732 14 P48651,Q7RTS9,P16435 3 |
| Visual impairment 0.3039882593782197 0.5531606080771164 0.5801534380535782 1.0 0.9698461361845996 294 O43676,Q9H061,P50897,Q9NZ08,Q9NPL8,P16278,Q9NZJ7,P00846,Q9BSJ2,O60313,Q96CU9,Q9GZY8,P40855,P00403,P56589,P01889,Q86SQ9,Q9H6K4,Q01105,Q96A33,P21912,P12235,Q9P273,Q9NZ01,O75381,O43819,O96000,P51798,Q96N66,Q15907,Q6P4A7,Q10713,Q7LGA3,O75503,Q9UHX1,Q86Y39,O15460,P07602,Q15058,P13473,P37268,Q8IUX1,Q9Y6M9,P20700,Q9Y4P3,Q5KU26,O95831,P78318,P06865,Q6P4Q7,Q9H490,P04439,O43505,O14773,P53701,Q5XKP0,P17900,P30533 58 |
| Decreased pulmonary function 0.5904480828564196 0.5527753715298677 0.5804172349296666 1.0 0.9699379773347864 4 P08236 1 |
| Abnormality of tibia morphology 0.3635045372183432 0.5523722976547891 0.5806933063438562 1.0 0.9700502570722548 20 Q7RTS9,O95831,Q9BV10,P16435 4 |
| Abnormal vitreous humor morphology 0.4251573173548673 0.550848021167684 0.5817378619720648 1.0 0.970232896439882 9 P04439,O75533,P53701,Q9NX14,P29992 5 |
| Abnormal morphology of the musculature of the neck 0.3835204819767809 0.5504142254677782 0.5820352937886095 1.0 0.970232896439882 15 Q99720,Q96L58,P35637 3 |
| Tapered finger 0.3166446697792288 0.549657819995544 0.5825540927180513 1.0 0.9704165008601462 39 Q15907,P42892,Q8NCH0,Q03164,Q06136 5 |
| Pneumothorax 0.4581291782322194 0.5481890287166571 0.58356211464762 1.0 0.9706396450400966 7 Q96L58,P36543,Q8NCH0 3 |
| Abnormality of lower limb epiphysis morphology 0.3736581305602129 0.5475022760182436 0.5840337072387238 1.0 0.9706396450400966 17 Q7LGA3,Q8WVQ1,Q7RTS9,O95831 4 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2875668672097349 0.545992536600568 0.5850710675065924 1.0 0.9706396450400966 155 Q9NX62,P02545,P13073,O95202,Q13555,Q03164,O96028,Q9Y2B2,Q7RTS9,O75844,P51798,Q13510,Q9UHX1,Q9BV10,Q9Y619,O95831,Q03252,P48651,Q14739,Q32P28,P38435,Q8WVQ1,P16435,P46783 24 |
| Keratoconjunctivitis 0.4057957232850127 0.5459038923295756 0.5851320026652569 1.0 0.9706396450400966 11 Q9NZ08,Q14739 2 |
| Proptosis 0.3000978284279662 0.5452008181945631 0.585615408862443 1.0 0.9706396450400966 57 Q9NX62,Q32P28,P02545,O96028,Q96L58,O75718,O75431,Q8WVQ1,P16435,Q6PGP7,O75844,O95202 12 |
| Abnormality of skin pigmentation 0.2831276874877796 0.54477451156995 0.5859086108439024 1.0 0.9706396450400966 142 P02545,Q13423,Q9NZJ7,Q6PGP7,P00403,P16615,Q06136,P21912,O75844,P51798,Q7LGA3,P07602,O75431,P36551,Q15125,P04062,Q14739,P21964,Q8IZA0,P53701,P51648 21 |
| Abnormal electrophysiology of sinoatrial node origin 0.3939914742133983 0.5430318569602728 0.5871078685770454 1.0 0.9720245781361138 13 P0DP25,P06753,P02545,P21912 4 |
| Intestinal hypoplasia 0.5874255347717782 0.5419540250188255 0.5878501779927383 1.0 0.9722137559110672 4 O75844 1 |
| Pseudoepiphyses of the metacarpals 0.508780886637094 0.5409055435394211 0.5885726897519756 1.0 0.9728288681150769 5 O95202 1 |
| Encephalopathy 0.2713824120370821 0.5401444256439579 0.5890974351917673 1.0 0.9731584988247236 108 Q7KZN9,O43676,Q9NPL8,Q9NZJ7,Q96CU9,P00403,P50416,Q86SQ9,Q9H2C2,P11166,O96000,Q15067,O43772,Q86Y39,P07602,Q8IUX1,Q9Y6M9,Q5KU26,Q9Y619,P04062,P49792,Q9NVI7,P23786 23 |
| Abnormal peripheral action potential amplitude 0.410215286896504 0.5382435469838013 0.590408919683103 1.0 0.9736772050720368 10 Q96RL7,P39210 2 |
| Abnormal palmar dermatoglyphics 0.2953821337410857 0.5356340858589942 0.5922114664466738 1.0 0.9751720566970008 59 Q01082,P40855,O95202,P56589,Q9Y487,O96028,Q99567,P61978,Q9Y263,O75381,Q15907,Q8IY17,Q5SRE5,Q9UHX1,O75431,Q6NUK1,O60885,P57740,P49711,Q8NCH0,P98175,Q69YQ0,Q9NXE4 23 |
| Spastic paraplegia 0.3026938958189885 0.5352517424492762 0.5924757911459566 1.0 0.9751720566970008 55 P04062,Q7KZN9,Q9P0J0,P00846,O60313,Q9Y619,Q96CU9,P11166,O95831 9 |
| Recurrent bronchitis 0.6720856332786276 0.5349924188434246 0.5926550996036266 1.0 0.9751720566970008 3 Q03518 1 |
| Abnormal hand bone ossification 0.4549460488034522 0.5336484562603703 0.593584776506292 1.0 0.975517128441758 7 Q8WVQ1,Q15125 2 |
| Abnormality of circulating glucocorticoid level 0.3969476821440664 0.5308824378887914 0.5955002484555343 1.0 0.9770763835049034 12 Q13423 1 |
| Knee flexion contracture 0.3319683439563802 0.529019435112931 0.5967919677629288 1.0 0.9775467856779124 26 Q7LGA3,P48651,P06753,P37268,P21912,Q86XL3,P23786 7 |
| Abnormal urine cytology 0.3128432316433043 0.5285627627628313 0.5971087975890086 1.0 0.9775467856779124 41 P04062,Q03252,P01889,O15460,P09601,Q02978,P21912,Q8N1F7,Q14108,P06280 10 |
| Reduced forced vital capacity 0.505600932925476 0.5282251845998335 0.5973430515021101 1.0 0.9775467856779124 5 Q9BQT8,P06753 2 |
| Motor polyneuropathy 0.402429690129968 0.5274994757324475 0.5978467804073906 1.0 0.9775467856779124 11 P07196,P36551,O43819,Q15041 4 |
| Short upper lip 0.5053551528440574 0.5272482695673784 0.5980211925303509 1.0 0.9775467856779124 5 O95202 1 |
| Lumbar hyperlordosis 0.3728794133371638 0.5245390516393139 0.5999036655733274 1.0 0.9789173786044716 16 P06753,Q15738,Q7RTS9,Q96HY6,P04066 5 |
| Abnormality of the lymph nodes 0.3122787608694403 0.5240952680219907 0.6002122796318274 1.0 0.9789296736251164 43 P01889,Q13510,P33991,O15460,Q9NZ08,P28070,P00813,Q9H0U3,Q01844,Q5HYI8,P51798 11 |
| Abnormal esophagus physiology 0.3028483284741948 0.5234211618880751 0.600681200892651 1.0 0.9789324731182932 240 Q9NR77,Q9NZJ7,P15586,P00846,O60313,P51571,Q9GZY8,O95202,Q14108,Q96RL7,P01889,Q03164,Q99720,O96028,Q9H2C2,P05067,Q01105,Q96A33,O76024,P21912,P35637,P12235,P06280,Q15067,Q9Y584,Q13510,Q9UHX1,O75569,P07602,P20700,Q9BV10,Q9Y619,P55795,P04062,Q14739,P21964,Q8IZA0,O15118,P16435,Q96D71 40 |
| Bloody diarrhea 0.4519591124189225 0.5200790173515504 0.6030085023146541 1.0 0.9805222285536604 7 Q6PGP7 1 |
| Aplasia hypoplasia of fingers 0.2747791615145112 0.5190461120893133 0.6037285854990326 1.0 0.9811568767758988 100 Q03252,Q13510,Q9UHX1,P02545,Q03164,P38435,Q9Y2B2,Q8WVQ1,P13073,P16435,O75844,P46783,O95202,O95831,P51798 15 |
| Abnormal aortic arch morphology 0.3898170174669849 0.5189130872899339 0.6038213509529542 1.0 0.9811568767758988 13 Q9UHX1 1 |
| Aspiration 0.4063434002214534 0.5176715342908239 0.6046874622633813 1.0 0.9818771240388612 10 P06865,P43243,P17900 3 |
| Abnormal pulmonary thoracic imaging finding 0.3403145049655635 0.5154102035654988 0.606266403806319 1.0 0.9825497705674088 24 P04062,P21964,P01889,Q13510,Q9NZ08 5 |
| Bilateral cleft palate 0.6461272674920846 0.5149811393366013 0.6065661997265313 1.0 0.9825497705674088 2 Q12959 1 |
| Bilateral cleft lip 0.6461272674920844 0.514981139336601 0.6065661997265315 1.0 0.9825497705674088 2 Q9NXE4 1 |
| Abnormal erythrocyte sedimentation rate 0.4299703293492155 0.5143396300964957 0.607014558868217 1.0 0.9825497705674088 8 O15460,P28070,P01889 3 |
| Steppage gait 0.348998736117708 0.513595480031155 0.6075348403736875 1.0 0.9825497705674088 22 Q9NR77,Q96BR5,P02545,O15269,P07196,P05023,Q6UWE0,O43819,Q15120,P31483,Q13501 11 |
| Hirsutism 0.2819709721907345 0.5128819081586921 0.6080339295636936 1.0 0.9825497705674088 66 P08236,P02545,Q03164,P16278,Q06136,P15586,P54802,P16435 8 |
| Prenatal movement abnormality 0.2891069763103633 0.5119321892463466 0.6086984689755459 1.0 0.9825497705674088 61 P56589,P04062,Q7KZN9,P02545,O96028,Q86SQ9,Q9H2C2,Q70HW3,P40855,O75844,O95202,Q9HC21 12 |
| Adrenocorticotropic hormone deficiency 0.6449755254822984 0.5110997739301543 0.6092811942341385 1.0 0.9828026299210874 2 P04637 1 |
| Sudden loss of visual acuity 0.6449755254822949 0.5110997739301428 0.6092811942341465 1.0 0.9828026299210874 2 P35222 1 |
| Coarse hair 0.3646734645770273 0.5090979346482273 0.6106835794354506 1.0 0.9828026299210874 18 P15586,Q9Y487,P54802 3 |
| Premature birth 0.3105282550991414 0.5086552278670105 0.6109939101690394 1.0 0.9828026299210874 44 P04062,O43676,P02545,Q9BV10,O75844,P40855,P51798 7 |
| Abnormality of the ureter 0.2815964285443691 0.5070112203127607 0.6121469458231377 1.0 0.9828026299210874 73 Q7LGA3,P21964,P02545,Q9UHX1,Q9Y2B2,O76024,P21912,P61978,Q9Y4P3,Q86XL3,P23786,O75844,P16435 13 |
| Impaired glucose tolerance 0.4684529509406306 0.5033333462049786 0.6147299253987304 1.0 0.9828026299210874 6 P02545 1 |
| Megaloblastic anemia 0.4276497227090583 0.503155508778178 0.6148549425539747 1.0 0.9828026299210874 8 P41440,O76024 2 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.3134551276129588 0.5030722387405951 0.6149134840392982 1.0 0.9828026299210874 34 P02545,P38435,P16435,O75844,P51798 5 |
| Hyperlordosis 0.3070044681987848 0.5014435459321054 0.6160589995972281 1.0 0.9828026299210874 49 P02545,P55795,P22626,Q9BTV4,Q14999,P16278,P50402,Q9Y4P3,Q7RTS9,Q8WVQ1,Q96HY6,P04066 12 |
| Hypoventilation 0.3865285115101394 0.5000406149036019 0.6170464795437418 1.0 0.9829788497861796 13 P06753,P61978,Q13724,Q14203,O43819 5 |
| Protruding tongue 0.3913738301966385 0.4997952184885504 0.6172192777727175 1.0 0.9829788497861796 12 Q6NUK1,Q10713,P20700,Q96RL7 4 |
| Nuclear cataract 0.575133883159102 0.4985848151396602 0.6180719047920236 1.0 0.983999288945546 4 P08670,O76024 2 |
| Anarthria 0.4664845945539542 0.4950506102536863 0.6205643959700078 1.0 0.986552595005113 6 Q99720 1 |
| Abnormal circulating sex hormone concentration 0.3463133413808633 0.4939022988689735 0.6213751809625228 1.0 0.986552595005113 22 P04637,Q13423,Q8WWQ0,Q969G3,P16435 5 |
| Abnormal forearm bone morphology 0.3373666026958584 0.4927721389556633 0.6221735989220996 1.0 0.987174757172267 24 Q32P28,Q96L58,P98175,Q9BV10,P16435 5 |
| Impacted tooth 0.6588422834517257 0.4927458357148884 0.622192186529549 1.0 0.987174757172267 3 O75844 1 |
| Clonus 0.3118953427761792 0.4915358321654268 0.6230475152581469 1.0 0.987856831976386 32 Q99720,P07602,Q9NZJ7,Q9Y619,Q9NW15,Q9BQT8 6 |
| Flat occiput 0.3848615495578109 0.4905192513373981 0.6237665104980223 1.0 0.9885932676821922 13 P56589,O15357,P52732,Q05086,O75381,O60762,Q9Y2U8,O00754,P40855 9 |
| Progressive hearing impairment 0.3793041850433928 0.4890740928893505 0.6247892421721004 1.0 0.9885932676821922 14 O60313,P00403,Q96RR1,O76024 4 |
| Sclerosis of skull base 0.6570444471516682 0.4871014782632468 0.6261864188821222 1.0 0.989169717707606 3 Q14739 1 |
| Oral ulcer 0.4239941735967066 0.4856407053034903 0.6272219307679467 1.0 0.989169717707606 8 Q9NZ08 1 |
| Abnormality of cardiovascular system electrophysiology 0.2688901827774134 0.4851375844574107 0.6275787530042383 1.0 0.989205943713764 115 P02545,Q02978,P0DP25,Q9NZJ7,O75880,P00846,O43464,P40855,P00403,P56589,P50416,P01889,Q9BTV4,P21912,P12235,O75381,O43819,P06280,O43772,O15460,P07602,P13473,P36551,Q9Y4P3,P04062,P42892,P06753,Q9H490,P50402,P53701,P51970,P23786 32 |
| Increased c peptide level 0.6363374604088716 0.4823454761474934 0.6295605468981726 1.0 0.990087285336889 2 Q16836 1 |
| Blue sclerae 0.3311928372806547 0.4820481637756141 0.6297717320195235 1.0 0.990087285336889 25 Q8NCH0,Q96L58,P07237,Q8WVQ1,P00387,O75718 6 |
| Focal dystonia 0.331156335114517 0.4817626191662151 0.6299745868309603 1.0 0.990087285336889 25 Q96RL7,Q99720,Q96L58,P35637,Q9NQZ5 5 |
| Lateral clavicle hook 0.4633023740873659 0.4817305083332194 0.6299974005535114 1.0 0.990087285336889 6 Q9Y619,O15357 2 |
| High myopia 0.4111641109513632 0.4801482829361898 0.6311219579706133 1.0 0.9910608481132654 9 O15460,P30533,Q9Y487 3 |
| Arm dystonia 0.569671020716929 0.4796581223261818 0.6314705102427116 1.0 0.9910608481132654 4 Q99720 1 |
| Molar tooth sign on mri 0.4924993501703664 0.4768170334873846 0.6334924153110935 1.0 0.9917161981183744 5 O43924 1 |
| Muscle fibrillation 0.3625592672100821 0.4756229379637189 0.6343430307709048 1.0 0.9917161981183744 17 Q9BQT8,Q13510 2 |
| Noncompaction cardiomyopathy 0.6532497720046222 0.4752623267980695 0.634600007637911 1.0 0.9917161981183744 3 P21912 1 |
| Abnormal morphology of the radius 0.3708248993293941 0.4726962495307531 0.6364299027136258 1.0 0.9917161981183744 15 Q96L58,Q32P28,Q9BV10 3 |
| Weak voice 0.4412769618314985 0.4721878143867277 0.6367927367631381 1.0 0.9917161981183744 7 P04062,Q14203,P43243 3 |
| Severe postnatal growth retardation 0.3861944196557988 0.4712075360800824 0.6374925376068186 1.0 0.9917161981183744 12 O95202,O96028 2 |
| Horseshoe kidney 0.3065265089621622 0.4712050973788241 0.637494278949684 1.0 0.9917161981183744 45 Q8NCH0,Q9UHX1,P51571,P16435,P46783,O75845 6 |
| Sparse eyebrow 0.3094204366058541 0.4705477476302853 0.6379637293029958 1.0 0.9917161981183744 37 P02545,Q9UM00,O75431,Q9NVI7,O75844,Q15125,Q92643 7 |
| Increased head circumference 0.2742033770356226 0.4705070604144378 0.6379927911020502 1.0 0.9917161981183744 130 P08236,P02545,Q9NZJ7,P40855,Q13555,P56589,Q15233,Q9UM00,Q9Y2B2,P21912,O75844,P11166,O75381,P51798,Q7LGA3,Q9NZB8,P07602,Q15392,P55263,P78318,P48651,Q14739,Q9H9P8,O43505 24 |
| Tics 0.420486060412794 0.4689559107677353 0.6391011507176674 1.0 0.9920234094678924 8 Q9UHX1 1 |
| Opisthotonus 0.3338491849581703 0.4659388558052892 0.6412592675412259 1.0 0.9920234094678924 24 P04062,Q99720,Q9NZB8,P07602,P11117,Q9NZJ7,P35637 7 |
| Abnormality of exocrine pancreas physiology 0.3546450882986851 0.4649136985241348 0.6419932602743161 1.0 0.992812754150491 19 Q5HYI8,P09601,Q9UHX1 3 |
| Cyanosis 0.3544580273655474 0.4636606743983491 0.6428908764084997 1.0 0.9931197188426564 19 P02545,O43772,P53007,P98175,P00387,O75844,P11166,P04066 8 |
| Nail dysplasia 0.3089713228250406 0.4632570937918238 0.6431800964563124 1.0 0.9931197188426564 33 P42892,P48651,P16615,P10321,Q9Y619,O95202 6 |
| Abnormality of the nasal bone 0.5647728143872018 0.4628814118823529 0.6434493719178311 1.0 0.9931197188426564 4 P35222,Q6NUK1 2 |
| Keratitis 0.3846688476488861 0.4628458601156487 0.6434748565886204 1.0 0.9931197188426564 12 Q9NZ08,Q14739 2 |
| Patchy changes of bone mineral density 0.5639504813714017 0.4600833472589563 0.6454563966035409 1.0 0.9955162755984204 4 Q13126,Q14739 2 |
| Episodic tachypnea 0.4177833374605376 0.4561877414160569 0.6482549797506822 1.0 0.9974043390682472 8 O43924,Q10713 2 |
| Abnormal renal tubule morphology 0.3227575955208141 0.4549394047639637 0.6491528331272161 1.0 0.9979032628410432 26 P00846,P06280,Q9Y4P3,P23786 4 |
| Involuntary movements 0.2914126009244917 0.4519742366625701 0.6512875425555995 1.0 0.9991610011738876 344 O43924,Q6DKK2,Q9NR77,Q9UBX3,P50897,Q86VD7,Q9NPL8,Q9P0J0,Q9NZJ7,P00846,O60313,O43464,P13073,P41440,Q96CU9,O95202,P00403,Q14108,P27544,O14949,Q96RL7,O00584,Q03164,Q99720,Q9H6K4,Q9H2C2,P05067,Q01105,Q9Y2B2,O96028,O76024,P21912,P35637,Q9NW15,P11166,P12235,P06280,P51798,Q96N66,Q15907,Q6P4A7,O75503,Q13510,Q9UHX1,Q9NZB8,O75569,P22626,P07602,P20700,Q9BPX6,P07196,Q8N2K0,Q9Y619,Q9BQT8,O75845,O95831,Q9UNW9,P55795,P04062,Q03252,O14773,Q9NQZ5,Q5XKP0,P17900 64 |
| Cardiomegaly 0.3074723067021848 0.449894782605562 0.6527863097870368 1.0 1.0 36 P20674,Q15233,P04062,P50416,Q14739,P13473,P54802,Q9Y4P3,P23786,P04066 10 |
| Genu varum 0.3774243700958716 0.4484361767450424 0.6538384378628701 1.0 1.0 13 Q9Y619,Q8WVQ1,Q7RTS9 3 |
| Abnormality of ocular smooth pursuit 0.3314956926905154 0.4481005492032728 0.6540806317082446 1.0 1.0 24 Q10713,P46977,O14773,P41440,O00754,Q9NW15 6 |
| Spondyloepiphyseal dysplasia 0.6256838468183165 0.4477868967887679 0.6543070009020242 1.0 1.0 2 P27635 1 |
| Abnormality of fibula morphology 0.3772530394549838 0.4474747309360196 0.6545323287845801 1.0 1.0 13 Q8WVQ1,O75431,P16435 3 |
| Diminished movement 0.3519320289080488 0.4467906060586293 0.6550262545781096 1.0 1.0 19 P04062,P13473,P06753,Q99567,P51114,Q96RR1,P12235,O95831 8 |
| Abnormal brainstem morphology 0.2727337027767419 0.4465049998414894 0.655232501791362 1.0 1.0 94 O43676,Q86Y39,Q9NPL8,P49792,Q8IUX1,P20700,Q13217,Q9Y320,Q9Y6M9,O43505,O60313,Q5KU26,Q96CU9,O15121,O43819,O96000,O95831 17 |
| Gowers sign 0.3769730840708351 0.445904532424682 0.6556662081311333 1.0 1.0 13 O75340,Q13510,P06753,O75190,P07196 5 |
| Meningioma 0.4041974575216057 0.4456789344510068 0.6558291833321943 1.0 1.0 9 P02545,P21912 2 |
| Abnormal lung development 0.3024346698500038 0.4451140992524774 0.6562373002157447 1.0 1.0 48 Q14739,P02545,O96028,Q9UHX1,P21964,Q96L58,Q7Z4L5,O75844,O95202,O96000 10 |
| Abnormal labia morphology 0.3515917832125739 0.4445255459876067 0.6566626635596997 1.0 1.0 19 Q9Y619,P16435 2 |
| Functional abnormality of male internal genitalia 0.3047939565654392 0.4423290101722189 0.6582511412026963 1.0 1.0 29 Q13423,P04062,O76024,P16435 4 |
| Macrogyria 0.4834290154829072 0.4420832944305077 0.6584289325845816 1.0 1.0 5 Q15392 1 |
| Biparietal narrowing 0.3800171452242809 0.4375245873988707 0.6617309487242795 1.0 1.0 12 O43924 1 |
| Low back pain 0.6219406852865008 0.4358938280642289 0.6629137633182807 1.0 1.0 2 Q8WVX9 1 |
| Brisk reflexes 0.3298338778280919 0.4355638705025194 0.663153188954801 1.0 1.0 24 Q10713,Q5JRX3,Q99720,P35637,Q9BSJ2,Q9NW15 6 |
| Craniofacial asymmetry 0.6392064254207462 0.4323639647337046 0.6654769042434332 1.0 1.0 3 O95202 1 |
| Hemoptysis 0.4507603177436568 0.4301367031587747 0.6670962025177527 1.0 1.0 6 Q9NZ08 1 |
| Pseudobulbar signs 0.384193494732325 0.4298385856103698 0.6673130624829668 1.0 1.0 11 P42356,Q15233,P20700,P17900 4 |
| Abnormality of iron homeostasis 0.4506133013274955 0.4295409704572502 0.6675295847107845 1.0 1.0 6 Q6PGP7 1 |
| Abnormal heart valve physiology 0.2711703318469358 0.429045316765452 0.6678902462010343 1.0 1.0 95 P02545,Q9NZ08,P16278,P36543,Q6PGP7,O00754,Q15233,P01889,Q96L58,O75844,O43819,P06280,Q9UHX1,Q15904,O75431,Q9Y4P3,Q15125,P55263,P04062,P53701,P00813,Q9NZ71 22 |
| Abnormality of mouth shape 0.2758319495794877 0.4289315496849502 0.6679730394326113 1.0 1.0 72 Q15233,P04062,O96028,Q9Y2B2,Q9H490,Q96A33,Q15125,P61978,Q86XL3,O95202,Q9UNW9,O75845 12 |
| Ureteral duplication 0.4309604716711123 0.4269766034070415 0.6693963689893025 1.0 1.0 7 O75844,P02545 2 |
| Erythematous papule 0.6179095882522345 0.4232362794616374 0.6721228796641576 1.0 1.0 2 Q8NBL1 1 |
| Hyperkeratotic papule 0.6179095882522345 0.4232362794616374 0.6721228796641576 1.0 1.0 2 Q8NBL1 1 |
| Hypoplastic facial bones 0.3566779392866096 0.4231650118752829 0.672174872236492 1.0 1.0 16 Q7RTS9,P16435 2 |
| Central adrenal insufficiency 0.4766570605187248 0.4166510347454943 0.6769336745082177 1.0 1.0 5 Q9NW13,O00170,P35222,Q9NSE4 4 |
| Hyperglycemia 0.4091939870322167 0.416139694996375 0.6773077846791633 1.0 1.0 8 O75844,P02545 2 |
| Pneumonia 0.2905260904562052 0.4138042824808062 0.6790174474229851 1.0 1.0 56 P78318,P04062,Q13510,P20700,P16278,P00813,Q9BV10,O95721 8 |
| Hemorrhage of the eye 0.3753795632723582 0.4125566922868704 0.6799314365366722 1.0 1.0 12 Q9Y487,P49792,O75533,P36543,P29992 5 |
| Abnormality of the supraorbital ridges 0.3222125722303963 0.4125185490027336 0.6799593878645345 1.0 1.0 25 P38159,P98175,O75381,P16435,Q6PGP7,P40855 6 |
| Emg impaired neuromuscular transmission 0.5497090085921957 0.4125124599607473 0.6799638499439171 1.0 1.0 4 O60313,P53007 2 |
| Patchy hypopigmentation of hair 0.5486663035900111 0.4090980648169005 0.6824676963743108 1.0 1.0 4 P02545 1 |
| Abnormal b cell morphology 0.3740282277732946 0.4053360362882265 0.685230521096805 1.0 1.0 12 P00813 1 |
| Prominent veins on trunk 0.6298625392183542 0.4046669367752046 0.685722348735714 1.0 1.0 3 Q9Y487 1 |
| Abnormal circulating apolipoprotein concentration 0.6298625392183542 0.4046669367752046 0.685722348735714 1.0 1.0 3 Q9Y487 1 |
| Abnormal cutaneous elastic fiber morphology 0.6298625392183542 0.4046669367752046 0.685722348735714 1.0 1.0 3 Q9Y487 1 |
| Restrictive ventilatory defect 0.3793571882744518 0.4046015321133255 0.6857704321718074 1.0 1.0 11 P01889,P16278 2 |
| Absent facial hair 0.3841542812943696 0.4028167197071949 0.6870830602868605 1.0 1.0 10 O75844 1 |
| Non hodgkin lymphoma 0.3953279553682908 0.402597080378633 0.6872446578404692 1.0 1.0 9 P00813,Q9H0U3 2 |
| Femoral bowing 0.3837863860209711 0.4009619256373779 0.6884481561965066 1.0 1.0 10 O00754,Q7RTS9,Q32P28,P16435 4 |
| Chronic rhinitis 0.5460584872105163 0.400601357317863 0.6887136461852321 1.0 1.0 4 P51798 1 |
| Abnormal odontoid tissue morphology 0.2985492104478779 0.3988946895044594 0.6899708023105138 1.0 1.0 47 Q9HC07,P48651,P21964,Q6P4Q7,Q96L58,Q14999,P16278,P53701,Q9Y4P3,P51648 10 |
| Hyperthyroidism 0.377502352633681 0.395005394278406 0.6928389069690986 1.0 1.0 11 P12235,P21964 2 |
| Synostosis involving bones of the upper limbs 0.3002338236638563 0.392435231128873 0.6947366588246262 1.0 1.0 31 P48651,O96028,Q96L58,Q9Y4P3,Q8WVQ1,P16435,O95202 7 |
| Coronal craniosynostosis 0.4220414197853589 0.3888121593112851 0.697415105379166 1.0 1.0 7 Q9NX62,P07237,P16435 3 |
| Abnormal ovarian morphology 0.2997774665408633 0.3885027521053502 0.6976440178170069 1.0 1.0 31 P16435,Q03252,P02545,P21912 4 |
| Aplasia hypoplasia of the pubic bone 0.4402651566450859 0.3881774345337261 0.6978847310880005 1.0 1.0 6 O95202,Q14999,O96028 3 |
| Mitral valve prolapse 0.3233985153403461 0.3875124468371458 0.6983768721180188 1.0 1.0 24 P02545,Q96L58,P06753,P53701,Q9Y4P3,P55795 6 |
| Hypoplastic heart 0.6232718894009277 0.3855623225461579 0.699820841804059 1.0 1.0 3 Q12768,O60826 2 |
| Abnormality of the thoracic cavity 0.3701600620173634 0.3848100025770889 0.7003781877648239 1.0 1.0 12 Q01844,O15460,Q9H0U3,P01889 4 |
| Occipital meningocele 0.4391941333168647 0.3839628270864041 0.7010059993061477 1.0 1.0 6 P21964 1 |
| Abnormal circulating gonadotropin concentration 0.3656179205345197 0.3831164142658081 0.7016334496344432 1.0 1.0 13 Q8IY17,Q969G3,P16435,P51659,P51809,P57740 6 |
| Progressive microcephaly 0.2973367762985812 0.382088839569969 0.7023954696825148 1.0 1.0 46 Q9Y487,Q9BT22,P50897,O95721,Q5KU26,Q9BV10,P11166,Q9HC21 8 |
| Abnormal distal phalanx morphology of finger 0.292947514475079 0.3819481942308228 0.7024997915468627 1.0 1.0 52 Q7LGA3,P02545,P38435,Q9Y2B2,O75431,Q8WVQ1,P16435,O75844,P51798 9 |
| Woolly hair 0.467014641881634 0.3812342592124948 0.7030294300183428 1.0 1.0 5 Q6PGP7 1 |
| Hyperpituitarism 0.3449638786923427 0.381225761790944 0.7030357347679637 1.0 1.0 18 P82650,Q969G3,O00170,P35222,P16435,P51659,P51809,P57740,P33991 9 |
| Degeneration of the lateral corticospinal tracts 0.438017173786378 0.3793463090337128 0.7044307152655953 1.0 1.0 6 P35637,Q14203,Q13501 3 |
| Pectus carinatum 0.2994767719041448 0.3786355910317274 0.7049584888047982 1.0 1.0 37 P08236,P16278,Q7RTS9,Q9NVI7,Q9Y619,P55795 6 |
| Ileus 0.5392097645165669 0.3785848953190532 0.7049961404681848 1.0 1.0 4 Q01844 1 |
| Recurrent gastroenteritis 0.5390509727763876 0.3780796598515247 0.7053714179016641 1.0 1.0 4 P78536 1 |
| Thick hair 0.4194706251603052 0.3779834444925732 0.7054428926145486 1.0 1.0 7 Q9Y487 1 |
| Distal arthrogryposis 0.4659639471286561 0.3774343677748569 0.705850830450641 1.0 1.0 5 Q8NCH0 1 |
| Sparse eyelashes 0.3341137077007142 0.376506243033198 0.7065405750992582 1.0 1.0 21 O75844,Q15125 2 |
| Short foot 0.2992187351208221 0.3746848777169589 0.7078948401507406 1.0 1.0 36 Q9NX62,Q7Z4L5,Q9Y2B2,Q13555 4 |
| Breech presentation 0.3892380756922735 0.3735879357549171 0.7087109109635643 1.0 1.0 9 Q9Y619,O75718,O60313 3 |
| Inguinal freckling 0.6180875576036928 0.3707950851302163 0.7107901623335682 1.0 1.0 3 P21359,Q8NBL1 2 |
| Skeletal muscle atrophy 0.2813239424465591 0.3684578484936594 0.7125318697315972 1.0 1.0 169 Q6DKK2,Q9NR77,P02545,Q9NPL8,P16278,O60313,Q15165,Q96RL7,Q99720,Q9BTV4,P21912,P35637,P12235,Q9NWM8,Q9HC21,Q6P4A7,Q13510,P22626,P13473,P07196,Q8N2K0,O14979,Q9BQT8,O95831,P39210,P55263,Q03252,O15269,P50402,O43505,Q9NVI7,Q92804 32 |
| Prominent antitragus 0.6170192968801124 0.3677814186421601 0.7130362252169493 1.0 1.0 3 Q92643 1 |
| Hypophosphatemia 0.3979990594689099 0.3652672619986163 0.7149119137132636 1.0 1.0 8 P16930,P51798 2 |
| Abnormal circulating albumin concentration 0.2975339673787145 0.3651772116082382 0.7149791279050597 1.0 1.0 32 Q5XKP0,Q9BT22,Q8NFH4,Q92621,Q8N1F7,Q9BV10,Q6PGP7,O95470 8 |
| Abnormal meningeal morphology 0.3203573904108254 0.3651015208464251 0.715035625687297 1.0 1.0 24 P21964,O75845,Q9UHX1 3 |
| Dyspareunia 0.4625184234250644 0.3650584748730551 0.7150677571481028 1.0 1.0 5 P01889 1 |
| Narrow forehead 0.2932384424797857 0.3649226454981137 0.7151691496450918 1.0 1.0 50 P49711,Q7LGA3,Q5SRE5,Q9UHX1,Q9UBM7,Q9UM00,P20700,P57740,Q96A33,Q9H490,P55011,Q01082,Q9BSJ2,Q9NXE4,O75845,Q13555 16 |
| Full cheeks 0.2974164539763686 0.3625500022871448 0.7169410648526 1.0 1.0 38 Q9NZB8,O75845,P02545,Q9UHX1 4 |
| Hypoplastic female external genitalia 0.3464903639903233 0.3613748777794826 0.7178192255278275 1.0 1.0 16 P49711,Q9NP72,Q6NUK1,P16435,Q9Y619,O60885 6 |
| Wide mouth 0.2704147825194061 0.3610167404854569 0.7180869327294992 1.0 1.0 67 Q15233,Q7LGA3,P48651,Q9Y2B2,P16278,Q01105,Q9H490,P15586,Q9Y4P3,P51571,Q6PGP7,P11166,P55795 13 |
| Elevated urinary delta aminolevulinic acid 0.5334099239729265 0.3602893551654433 0.7186307589067176 1.0 1.0 4 P36551 1 |
| Joint swelling 0.3963323137815717 0.3578322328619608 0.7204688672549788 1.0 1.0 8 P14174,Q13510 2 |
| Memory impairment 0.2954248320191109 0.3573951212223571 0.7207960286134192 1.0 1.0 43 Q9UJS0,P01889,P03915,Q9NZ08,P05067,P07602,Q969G3,Q9NZJ7,Q8WVX9,O96008,Q96RR1,O43681,P00403,P31483,Q13501 15 |
| Bowing of the arm 0.4322746152100263 0.357051919209835 0.721052938028681 1.0 1.0 6 Q32P28,P16435 2 |
| Generalized abnormality of skin 0.2929008770954229 0.3557315387458942 0.7220416235019207 1.0 1.0 231 P02545,P16278,P00846,P98194,Q6PGP7,P40855,P00403,Q14108,P04066,Q9Y487,P01889,Q96L58,Q9Y2B2,Q06136,P21912,O75844,Q5HYI8,Q9NWM8,P11166,O75381,P51798,P06280,O43772,Q15904,O75431,P37268,P36551,Q9Y4P3,P78536,Q15125,P39210,P04062,Q03252,P48651,Q14739,Q8NCH0,P21964,P00374,O15269,P10619,P38435,Q8IZA0,O15118,P53701,P00813,P51648 46 |
| Metaphyseal striations 0.431884549741832 0.3555517362565816 0.722176293472885 1.0 1.0 6 P00813 1 |
| Absent hair 0.3645222680009835 0.355292431420951 0.7223705249360992 1.0 1.0 12 O75844 1 |
| Abnormal upper motor neuron morphology 0.3643989262388219 0.3546521761020996 0.7228501827666651 1.0 1.0 12 Q99720 1 |
| Patellar dislocation 0.330872184633081 0.3544513499397791 0.7230006574479433 1.0 1.0 21 Q9NX62,Q8WVQ1,Q15125,P21964 4 |
| Abnormality of chorioretinal pigmentation 0.4579622436005235 0.3488981885300536 0.7271657451764595 1.0 1.0 5 Q9Y619 1 |
| Abnormality of primary teeth 0.3495990074139075 0.347555761539697 0.7281738344501298 1.0 1.0 15 P02545,Q9UM00,P61978,O75844,P51798 5 |
| Aortic dissection 0.5283817385994286 0.3446971619130193 0.7303220519915963 1.0 1.0 4 P01889 1 |
| Pulmonary artery stenosis 0.3436094279075976 0.3442223547437846 0.730679071754538 1.0 1.0 16 Q6PGP7,Q9Y2B2,P51798 3 |
| Abnormal circulating follicle stimulating hormone concentration 0.4288101621246585 0.3437925524124483 0.7310023015414706 1.0 1.0 6 Q969G3,P16435 2 |
| Abnormal insulin level 0.303653722118924 0.3436177622405229 0.7311337649125123 1.0 1.0 27 O75844,P02545,P53985 3 |
| Abnormal phalangeal joint morphology of the hand 0.2957489010087528 0.3435357548362414 0.7311954471307285 1.0 1.0 35 P02545,Q9Y2B2,Q8WVQ1,P16435,O75844,Q9Y619 6 |
| Esodeviation 0.2941928018250462 0.3414708583199002 0.7327491396138202 1.0 1.0 40 O43924,P04062,Q9UHX1,Q9Y2B2,P20700,Q9NVI7,Q9P273,P00387,Q5KU26 9 |
| Exodeviation 0.3211540072698475 0.3413870861046751 0.732812195610482 1.0 1.0 23 Q15233,Q9UHX1,Q9UEY8,O43819,P55795 5 |
| Intrauterine growth retardation 0.2889598417958983 0.341313024926671 0.7328679435359544 1.0 1.0 209 O43924,O43676,P02545,Q9NPL8,P16278,O75880,Q6PGP7,Q96CU9,O95202,Q9Y487,Q03164,O96028,Q96L58,O75844,O96000,P51798,P51572,Q9Y584,Q6P4A7,Q9UHX1,Q86Y39,Q8IUX1,P37268,Q9Y6M9,Q9BV10,Q9Y619,Q15392,O75845,P04062,P48651,P21964,Q9BT22,Q8WVQ1 33 |
| Abnormality of dental color 0.6068181003702917 0.3395200846255769 0.7342179693476989 1.0 1.0 3 P16278 1 |
| Increased muscle lipid content 0.3711287228675581 0.3382957259574275 0.7351403442483011 1.0 1.0 10 O75648,P06753,P23786 3 |
| Natal tooth 0.3815950186764985 0.3379011546472949 0.7354376774046538 1.0 1.0 9 O75844 1 |
| Increased circulating gonadotropin level 0.3814959424193149 0.3374441065651019 0.7357821401126512 1.0 1.0 9 P51659,P51809,P57740,P16435 4 |
| Congenital contracture 0.2932491428516335 0.3370608277967747 0.736071046179676 1.0 1.0 42 P04062,Q8NCH0,P02545,O75844,Q15392 5 |
| Vertebral fusion 0.3814081925863152 0.3370394306260322 0.7360871759387826 1.0 1.0 9 O95202,Q9UHX1 2 |
| Periventricular cysts 0.409121665999836 0.3352283654600757 0.737452826189132 1.0 1.0 7 O95202 1 |
| Spinal muscular atrophy 0.3601522178470241 0.3327585078150684 0.7393165809267113 1.0 1.0 12 Q99720 1 |
| Vascular neoplasm 0.2944814200082764 0.3324005021087585 0.7395868594526211 1.0 1.0 35 Q7LGA3,Q9UHX1,O96028,P10619,P16435,O95202 6 |
| Pseudoepiphyses of hand bones 0.4257737955746192 0.3322938994943378 0.739667345943321 1.0 1.0 6 O95202 1 |
| Pseudoepiphyses 0.4257737955746192 0.3322938994943378 0.739667345943321 1.0 1.0 6 O95202 1 |
| Truncal ataxia 0.339423269856989 0.3314599312466579 0.7402971021729425 1.0 1.0 17 O75503 1 |
| Abnormality of complement system 0.6036471504515759 0.3309307240555877 0.7406968138521219 1.0 1.0 3 P02545 1 |
| Delayed ability to walk 0.2677907320909565 0.3289940662483481 0.7421601730664567 1.0 1.0 66 Q15907,Q15233,Q10713,Q03252,Q96D71,Q99720,Q86VD7,Q01105,P20700,P53007,P21912,O75648,P61978,P35637,Q6ZXV5,Q3ZCQ8,Q96N66 17 |
| Abnormality of the calvaria 0.2936118139576952 0.3284499059004517 0.7425715144657352 1.0 1.0 271 O43924,Q9NX62,P02545,P16278,P15586,P13073,Q6PGP7,O95202,P40855,P04066,Q9Y487,Q03164,O96028,Q96L58,Q01105,Q9Y2B2,Q96A33,Q7RTS9,O75844,O75381,P51798,Q15067,Q9NZB8,P22626,O75431,P54802,Q9BV10,Q9Y619,Q15392,Q15125,O75845,O95831,Q9UNW9,P55263,P04062,Q03252,P48651,Q14739,Q8NCH0,Q9BT22,P21964,Q32P28,Q9NVI7,P16435,O75718,O95721 46 |
| Hyperkalemia 0.4515404141675534 0.3265319686546831 0.7440219060975519 1.0 1.0 5 Q13423 1 |
| Nephrolithiasis 0.3222867167842881 0.3231359935235696 0.7465922523163662 1.0 1.0 22 Q9NZB8,Q8NCH0 2 |
| Abnormality of the abdominal organs 0.2767016130996163 0.3224180783368909 0.7471359903409049 1.0 1.0 378 O43676,Q8NFH4,Q9NWS8,P00846,Q14108,Q9UGP8,P56589,P50416,Q86SQ9,P09601,Q9H0U3,O96000,P35610,Q9UHX1,Q86Y39,P07602,P54802,Q15392,P55263,P04062,Q14739,Q8NCH0,Q9BT22,P10619,P00813,Q8N511,P16278,P15586,P00403,Q96RL7,P28070,P51798,Q15067,Q13510,O43772,Q9Y619,O75845,Q9HC07,P21964,O15118,P53985,Q7KZN9,P08236,P02545,Q9NZ08,Q9NZJ7,Q6PGP7,O95202,P04066,P01889,Q7Z4L5,Q96A33,Q5HYI8,P11166,Q9HC21,Q15904,Q8IUX1,O75431,Q9Y6M9,Q03252,Q9NVI7,Q96HY6,Q5XKP0,Q9NPL8,O75880,Q96CU9,P40855,O96028,O76024,P21912,Q01844,P12235,O75381,P22626,P36551,Q9Y4P3,P14927,P33991,P39210,P00374,Q8N1F7,P23786 82 |
| Abnormal dermatoglyphics 0.2676048380516552 0.3201713498402851 0.7488384404748523 1.0 1.0 74 Q15907,P56589,Q9Y487,Q8NCH0,O96028,Q9UHX1,Q9Y2B2,O75431,P98175,Q9Y4P3,P40855,O75381,O95202 13 |
| Retinal hemorrhage 0.4222415139521618 0.3190651610015633 0.7496771014936123 1.0 1.0 6 Q9Y487 1 |
| Preaxial foot polydactyly 0.4490119681789338 0.3178623387515696 0.7505893614256229 1.0 1.0 5 O95202 1 |
| Eruption failure 0.4045756345364434 0.3168956317055367 0.7513227967358411 1.0 1.0 7 O75844 1 |
| Abnormality of the humeroradial joint 0.3665727698000839 0.3163280438022762 0.751753527294353 1.0 1.0 10 P48651,P16435 2 |
| Upper motor neuron dysfunction 0.2704028656791124 0.3158796763203176 0.7520938386610871 1.0 1.0 396 Q9NR77,P50897,Q9Y320,P00846,Q9BSJ2,Q15165,P56589,P50416,Q86SQ9,Q9H6K4,Q13217,Q9NZ01,O43819,Q3ZCQ8,P35610,O75503,P07602,Q15392,P04062,O14773,P51648,P17900,Q6DKK2,Q9UBX3,Q13423,P16278,O15121,P00403,Q9Y487,Q99720,Q01105,Q15067,Q15907,Q13510,Q9NZB8,P11117,P07196,Q9Y619,O95831,O15118,Q86XL3,Q92804,Q7KZN9,Q9NZ08,Q9P0J0,Q9NZJ7,P04066,P01889,Q9H2C2,P35637,Q7RTS9,P11166,P51572,Q96N66,Q8N2K0,Q9UNW9,Q9H9P8,Q9H490,O43505,Q9NVI7,Q5XKP0,Q96D71,O60313,O43464,P41440,Q96CU9,Q9GZY8,P40855,O00584,Q96L58,P21912,Q15041,O75381,O75569,P22626,P20700,Q9Y4P3,Q5KU26,P49792 79 |
| Renal tubular atrophy 0.4481268011527294 0.3148459149405843 0.7528786481627612 1.0 1.0 5 P57740,Q12965,Q8WUM0,Q9NQH7 4 |
| Cleft soft palate 0.2767974329747309 0.3144578258513701 0.7531733430871363 1.0 1.0 59 P78318,Q15233,P48651,Q9Y2B2,P46783,O43505,P61978,Q6PGP7,Q15392,Q9NWM8,Q9Y619,Q9HC21 12 |
| Immunologic hypersensitivity 0.2902443306999371 0.313205207467875 0.7541247623439027 1.0 1.0 30 P00813,Q9NZ08,P21964 3 |
| Renal agenesis 0.2827962107815835 0.311319724710333 0.7555575736787583 1.0 1.0 55 O43924,Q7LGA3,Q9UHX1,Q86XL3,Q15392 5 |
| Abnormality of the septum pellucidum 0.2904600142478618 0.3107181830934121 0.7560148729149829 1.0 1.0 42 P48651,O43505,P53701,Q9BV10,P51571,Q15392,O95202,Q96N66 8 |
| Generalized hirsutism 0.2891150557234277 0.310397528154291 0.7562586736279853 1.0 1.0 29 Q06136,P02545,Q03164 3 |
| Reduced consciousness confusion 0.2675100803857268 0.3097960659203204 0.7567160434805573 1.0 1.0 138 P20674,O14678,O43676,Q13423,Q9NPL8,Q9NZ08,Q9NZJ7,Q9NWS8,O00754,Q96CU9,P00403,Q9UJS0,P50416,P01889,P05067,P12235,P11166,O43819,O96000,Q9HC21,P35610,O43772,Q86Y39,P07602,Q8IUX1,Q96IX5,Q9Y6M9,P36551,O96008,O43681,Q9Y619,Q9HCC0,P04062,P49792,P16219,P23786,P46783 37 |
| Convex nasal ridge 0.3166253841073465 0.3095279826547989 0.7569199294745204 1.0 1.0 23 O75844,O95202,P02545 3 |
| Impaired distal vibration sensation 0.4023689978418313 0.3081010026080065 0.7580054783454893 1.0 1.0 7 P20700,Q96RR1 2 |
| Fibrosarcoma 0.5949774011855595 0.3079363461664904 0.7581307684676126 1.0 1.0 3 Q13126 1 |
| Relative macrocephaly 0.2915027126555292 0.3069398613413762 0.7588891475940649 1.0 1.0 37 O75844,Q7LGA3,P48651,Q15392 4 |
| Abnormality of the calcaneus 0.3838276205739426 0.3033108049614934 0.7616530126405276 1.0 1.0 8 Q14739 1 |
| Infantile spasms 0.2908971781117919 0.3026339271312852 0.7621688560770024 1.0 1.0 34 Q9UBX3,P00846 2 |
| Abnormality of the helix 0.2899452134015002 0.3022450275864688 0.7624652812721318 1.0 1.0 40 Q7LGA3,P21964,P02545,Q9Y2B2,P36551,O75844 6 |
| Megalocornea 0.363550940438026 0.3019435423682469 0.7626951019062256 1.0 1.0 10 O95202,O96028 2 |
| Decreased head circumference 0.2329876953598154 0.3009251215179094 0.7634715934873781 1.0 1.0 474 Q8TCJ2,O43676,Q8NFH4,P50897,Q9Y320,Q9BSJ2,P56589,Q86SQ9,Q9UM00,P61978,Q15800,Q9NZ01,O96000,Q9UHX1,Q86Y39,P07602,Q16740,Q15392,P04062,Q9BT22,P51648,O95470,O15121,Q9Y487,Q99720,Q01105,Q06136,Q15907,Q7LGA3,O43772,Q9NZB8,P46977,Q9Y619,O75845,Q9HC07,P48651,P21964,Q86XL3,P16435,Q7KZN9,Q9NZJ7,O95202,Q03164,Q9H2C2,Q9Y2B2,Q96A33,P35637,Q7RTS9,P11166,P51572,Q96N66,Q9HC21,Q8IUX1,Q9Y6M9,Q9BV10,Q9UG56,P55795,Q03252,O43505,P53701,Q5XKP0,P46783,O95721,Q9NPL8,O43464,P51571,Q96CU9,Q9GZY8,P40855,O00584,O96028,P21912,O75381,P20700,Q9BPX6,Q9Y4P3,Q5KU26,P33991,P00374,P23786 80 |
| Congenital hip dislocation 0.3070119437550344 0.2987544520219236 0.765127406547647 1.0 1.0 25 Q9Y487,Q9UHX1,Q14999,P53007,P06753,P36543,Q15738 7 |
| Decreased circulating antibody level 0.287466482830773 0.2982947449557637 0.7654782147511381 1.0 1.0 49 Q6PGP7,Q9UJS0,P04637,Q15904,P09601,Q9NZ71,Q13724,P00813,P14174,Q9H0U3,Q9BV10,O00754 12 |
| Abnormal pupil morphology 0.3495747988060612 0.2978328147236165 0.7658307679387943 1.0 1.0 13 Q9NR77,O95202 2 |
| Exercise induced muscle cramps 0.4159611112922003 0.29595153535766 0.7672670934015091 1.0 1.0 6 P13473,P53985 2 |
| Abnormal cry 0.3448688833253552 0.2948742016137574 0.7680899802740881 1.0 1.0 14 Q13510,P06753,P53007,O60313,P25705 5 |
| Basal ganglia calcification 0.381486286110908 0.2933637951232655 0.769244095926189 1.0 1.0 8 P00403 1 |
| Hypoplasia of teeth 0.3140365438721356 0.2915417314625454 0.7706370322047633 1.0 1.0 23 O75844,P51648,P02545 3 |
| Intestinal pseudo obstruction 0.3567277733243829 0.2910730746222668 0.7709954321234567 1.0 1.0 11 P04637,P61978,Q96RR1,Q5HYI8,P00403 5 |
| Inappropriate behavior 0.3245927205724332 0.2899706016397477 0.7718387283004147 1.0 1.0 20 P17900,P07602,Q96RL7,Q9NZJ7 4 |
| Hemianopia 0.3806312088432054 0.2897526870510112 0.7720054459983237 1.0 1.0 8 P00403,Q969G3 2 |
| Hemifacial spasm 0.5098884902573053 0.2896328175896549 0.7720971577963622 1.0 1.0 4 Q10713 1 |
| Abnormal systemic arterial morphology 0.2712000262520913 0.2882628277769228 0.7731455591225347 1.0 1.0 152 P02545,P16278,Q9NZJ7,P00846,P01889,Q96L58,P05067,O75844,Q9NWM8,Q7LGA3,Q13510,Q9UHX1,P07602,O75845,P55263,P06865,P04062,P21964,P10619,P38435,O15118,P53701,P17900,P46783 24 |
| Abnormality of t cell physiology 0.3390061474293251 0.2879466782813191 0.7733875552341318 1.0 1.0 15 P00813 1 |
| Corticospinal tract hypoplasia 0.5706881658508568 0.2877964622510244 0.7735025455696631 1.0 1.0 2 Q13045 1 |
| Premature ventricular contraction 0.397179552745477 0.2876960101926135 0.7735794443704305 1.0 1.0 7 O43772 1 |
| Hip dysplasia 0.2804173509764586 0.2855152346995381 0.7752494343370167 1.0 1.0 55 Q15907,Q7LGA3,P02545,O96028,Q9UHX1,Q9Y2B2,Q96A33,Q9NVI7,O95202,Q15125 10 |
| Persistence of primary teeth 0.396120161030171 0.2835795510077525 0.7767326099709413 1.0 1.0 7 O75844 1 |
| Papillary renal cell carcinoma 0.4386993168033275 0.2833384328752322 0.7769174186522527 1.0 1.0 5 P02545 1 |
| Self mutilation 0.3593198632757438 0.2820634804689758 0.7778948350856327 1.0 1.0 10 Q9UM00,Q96RL7 2 |
| Exaggerated cupid s bow 0.4119299674028463 0.2814006746059833 0.7784031007539745 1.0 1.0 6 P11233,P61978,Q969N2 3 |
| Neoplasm of fatty tissue 0.3546266944940862 0.280963177906161 0.7787386424284399 1.0 1.0 11 Q9Y2U8,P03915,P29992,P21912 4 |
| Abnormality of malar bones 0.2645791633303418 0.280736179099289 0.7789127572778956 1.0 1.0 74 Q9HC07,Q9Y487,P02545,Q14739,P21964,Q9H490,Q8WVQ1,P16435,Q15125,O95831 10 |
| Attenuation of retinal blood vessels 0.395222686672318 0.2801055400027938 0.7793965344666571 1.0 1.0 7 P38435,P04439 2 |
| Spastic paraparetic gait 0.4113487541005212 0.2793216129948592 0.7799980213299149 1.0 1.0 6 O75787,Q15041 2 |
| Functional abnormality of the gastrointestinal tract 0.290063449252832 0.2791807877458521 0.7801060868578338 1.0 1.0 298 O14678,Q9NR77,Q9NZ08,Q9NZJ7,P15586,P00846,O60313,P51571,O00754,Q6PGP7,Q9GZY8,Q6ZXV5,Q14108,Q9UGP8,P00403,O95202,Q9UJS0,Q15233,Q9UBB4,Q96RL7,P01889,Q03164,Q86SQ9,Q99720,Q9H2C2,P05067,Q01105,O96028,Q96A33,O76024,P21912,P08183,P61978,P35637,P16930,Q5HYI8,Q01844,P12235,O43819,P06280,Q15067,Q9Y584,Q13510,Q9UHX1,Q86U42,O75569,O15460,P07602,P49257,P53007,P20700,P36551,Q9Y4P3,Q6NUK1,Q96RR1,Q9BV10,Q9Y619,P78536,P55795,P61916,P49711,P04062,P42892,P04637,Q14739,P21964,Q9UEY8,O15269,P06753,Q8IZA0,O15118,P16435,Q9NZ71,Q96D71 74 |
| Abnormal carotid artery morphology 0.3373881294979013 0.2790367283066765 0.7802166386129741 1.0 1.0 15 O75844,P02545 2 |
| Hypergonadotropic hypogonadism 0.3322998139098354 0.2784370053831819 0.7806769159744218 1.0 1.0 16 Q16740 1 |
| Abnormal blood potassium concentration 0.3417758935429593 0.2784205968975158 0.7806895102950477 1.0 1.0 14 Q13423,P0DP25 2 |
| Hepatic cysts 0.4367197397853263 0.2768703097325666 0.7818796911059793 1.0 1.0 5 Q9UGP8,Q7Z4L5 2 |
| Alopecia 0.2863158470569191 0.2768033010262138 0.7819311463249723 1.0 1.0 47 P01889,P02545,Q06136,P00813,O75844,Q15125 6 |
| Cone cone rod dystrophy 0.5820493896989678 0.2750299865989108 0.7832932003630444 1.0 1.0 3 Q6P4Q7 1 |
| Thick cerebral cortex 0.5045777982580095 0.2745202477837174 0.7836848456000156 1.0 1.0 4 Q9Y487 1 |
| Dysuria 0.3769636993016225 0.2743984569992561 0.7837784286586778 1.0 1.0 8 P01889 1 |
| Rod cone dystrophy 0.2865114734307752 0.2735035241555238 0.7844661836961819 1.0 1.0 45 P56589,P38435,Q8N2K0,P00846,O75381,P40855,Q15067 7 |
| Abnormal patella morphology 0.2895860558779868 0.2725489561853635 0.7851999538217689 1.0 1.0 28 Q9NX62,P21964,Q8WVQ1,Q9Y619,Q15125 5 |
| Anterior uveitis 0.5808979433067794 0.2721819261926711 0.7854821382178485 1.0 1.0 3 P01889 1 |
| Ptosis 0.288803782586074 0.2718588981908016 0.7857305158016306 1.0 1.0 236 Q7KZN9,O43676,P02545,Q9NPL8,Q9P0J0,Q9NZJ7,O60313,Q96CU9,O95202,P40855,P56589,P01889,Q03164,Q86SQ9,Q9UM00,Q9H2C2,O96028,Q9Y2B2,Q9BTV4,Q96A33,O76024,P61978,P35637,Q9P273,Q9NW15,P12235,O43819,O96000,O75381,Q10713,Q7LGA3,Q9UHX1,Q86Y39,P07602,Q8IUX1,Q9BPX6,P07196,Q9Y6M9,Q15125,O75845,Q9UNW9,P04062,P21964,P50402,Q86XL3,P46783,O95470 47 |
| Cutaneous photosensitivity 0.3030649832560639 0.2701845452681557 0.7870182817938289 1.0 1.0 25 Q14108,P37268 2 |
| Nausea and vomiting 0.2697498866936988 0.2700785054967825 0.7870998579774349 1.0 1.0 151 O43676,Q13423,Q9NPL8,Q9NZ08,Q9NZJ7,P00846,O43464,P51571,Q15165,Q96CU9,P00403,P01889,P21912,P35637,Q01844,Q5HYI8,O96000,P06280,Q9Y584,Q86Y39,P07602,P11117,Q8IUX1,Q9Y6M9,P36551,Q9Y4P3,Q9Y619,P39210,P42892,P49792,Q8IZA0,Q92804 32 |
| Abnormal iliac wing morphology 0.3437159706793601 0.2678470318505157 0.7888170667475334 1.0 1.0 13 Q7RTS9,P16278,O95831 3 |
| Skin pit 0.3301921109288041 0.2664723154445597 0.7898754779184052 1.0 1.0 16 O95202,P16615,O96028 3 |
| Onychomycosis 0.5617621652749863 0.2651104497394696 0.7909243775530013 1.0 1.0 2 Q9Y5L0 1 |
| Recurrent pneumonia 0.3204281671562407 0.263648611664566 0.7920506966683369 1.0 1.0 20 P00813,P20700,Q9BV10 3 |
| Drowsiness 0.4064876966437556 0.2621239746165001 0.7932258637517047 1.0 1.0 6 O00754 1 |
| Hip dislocation 0.2643421421923533 0.2618150321979635 0.7934640491953013 1.0 1.0 63 Q9Y5S9,Q9Y487,P02545,O96028,Q9UHX1,Q96L58,Q9Y2B2,Q14999,Q96A33,P53007,P06753,P55011,P36543,O75844,O95202,Q15738 16 |
| Ankyloglossia 0.3738683910556495 0.2616131373132827 0.793619714575355 1.0 1.0 8 O75844 1 |
| Type i transferrin isoform profile 0.3737531903788865 0.2611404227473938 0.7939842200167324 1.0 1.0 8 P51571,Q9BT22 2 |
| Central sleep apnea 0.4061454631928607 0.2609262377683755 0.7941493907152177 1.0 1.0 6 P53007,Q96A33 2 |
| Abnormality on pulmonary function testing 0.3166493822985388 0.260423716914711 0.7945369504745536 1.0 1.0 21 P01889,Q96L58,P06753,P16278,Q9BQT8 5 |
| Limb dystonia 0.3339137535261395 0.260091631813486 0.7947930927054407 1.0 1.0 15 Q99720,P35637,Q96RL7 3 |
| Unusual infection 0.2854946309104366 0.2597923951720831 0.7950239173763336 1.0 1.0 216 Q03518,P08236,Q13423,Q9NPL8,Q9NZ08,P16278,Q9NZJ7,P15586,Q6PGP7,O95202,P04066,Q9Y487,P01889,O96028,P09601,Q96A33,O76024,P28070,Q7RTS9,P11166,P51798,Q13510,Q15904,P07602,P20700,P54802,Q9Y4P3,Q9BV10,P78536,Q8N5M9,P33991,P04062,Q03252,Q14739,Q9BT22,Q9H9P8,Q9H490,P00813 38 |
| Cone shaped epiphysis 0.3288601211189405 0.2589622515972578 0.7956643660543827 1.0 1.0 16 Q7Z4L5,O95831 2 |
| Tonic seizure 0.3008836950187635 0.2545902211086342 0.7990396127935269 1.0 1.0 25 P07602,Q01105 2 |
| Polymicrogyria 0.2624756396956202 0.2536148059667626 0.7997931570368975 1.0 1.0 74 Q9NP72,Q9Y320,Q2M389,P36543,P40855,Q6ZXV5,P56589,O00459,Q9Y487,Q01105,Q9NZ01,O75381,Q96N66,P42356,Q10713,Q9NUQ7,P37268,Q16625,Q15392,Q15738,O43505,P55011,P23786,O95721 24 |
| Uplifted earlobe 0.5565793262309325 0.2523972708452132 0.8007340094281896 1.0 1.0 2 Q96GM5 1 |
| Talipes valgus 0.428939735759901 0.2519675308004194 0.8010661609106715 1.0 1.0 5 Q15233 1 |
| Abnormal oral frenulum morphology 0.3323945841899877 0.2518904988909426 0.8011257036449346 1.0 1.0 15 O43924,O75844 2 |
| Bifid uvula 0.2852149448706078 0.2517385721843051 0.8012431405930391 1.0 1.0 36 P78318,P48651,Q9Y2B2,O43505,P61978,Q6PGP7,Q15392,Q9Y619 8 |
| Cutaneous syndactyly 0.3704107954445153 0.2475248709050717 0.8045020460207319 1.0 1.0 8 Q9Y619 1 |
| Pruritus 0.3034962842733777 0.244940257749447 0.8065026897534302 1.0 1.0 24 P00813,Q14739,P16615 3 |
| Stomatitis 0.335288127889793 0.2445493187552652 0.8068054103202795 1.0 1.0 14 Q9NZ08 1 |
| Abnormal male reproductive system physiology 0.2841116851905387 0.243605505754941 0.8075363637678512 1.0 1.0 38 P04062,Q13423,P20700,O76024,O43464,P16435 6 |
| Rieger anomaly 0.4923008327413463 0.2408554670413485 0.8096671382828899 1.0 1.0 4 O95202 1 |
| Onychogryposis 0.5674687522643517 0.2399997031098158 0.810330486763553 1.0 1.0 3 P78536 1 |
| Pulmonary hypoplasia 0.2901129986114409 0.2399179593186985 0.8103938578928593 1.0 1.0 27 Q14739,P02545,Q96L58,O75844,O96000 5 |
| Midline defect of the nose 0.5508206161819839 0.2386751052549999 0.811357522050381 1.0 1.0 2 P21359 1 |
| Telangiectasia of the skin 0.3061632437825299 0.2379437025087299 0.8119247590475736 1.0 1.0 23 Q8IZA0,Q14739,P02545 3 |
| Abnormality of muscle size 0.2813705215356973 0.2357205037009345 0.8136495585161474 1.0 1.0 201 Q6DKK2,Q9NR77,P02545,Q9NPL8,P16278,O60313,Q15165,P04066,Q96RL7,P50416,Q9Y487,Q99720,Q9BTV4,Q96A33,P21912,P61978,P35637,P12235,Q9NWM8,O43819,Q9HC21,Q6P4A7,Q10713,Q7LGA3,Q13510,P22626,P13473,P07196,Q8N2K0,Q9Y4P3,O14979,Q9BQT8,Q9HCC0,O95831,P55263,P39210,Q03252,O15269,P06753,P50402,O43505,Q9NVI7,Q92804,P46020 44 |
| Extrapyramidal muscular rigidity 0.3828015980519346 0.2333269912636041 0.8155075009440353 1.0 1.0 7 Q9H6K4 1 |
| Pes cavus 0.2516064277097348 0.2332174250487502 0.8155925756491069 1.0 1.0 109 Q15907,Q9NR77,P04062,Q96RL7,Q14739,Q7LGA3,P02545,Q99720,Q9H6K4,Q96D71,P13473,P07196,Q8N2K0,Q9NW15,O95831 15 |
| Cerebral hemorrhage 0.3365369447932267 0.2320556821572221 0.8164947658470614 1.0 1.0 13 P23786,Q02978,P05067,P21912 4 |
| Personality changes 0.3179846497939824 0.2314666173598767 0.816952316780517 1.0 1.0 19 P04062,P00403 2 |
| Focal myoclonic seizure 0.3662914512563339 0.2310152158705452 0.817302981174054 1.0 1.0 8 O75503 1 |
| Cystic hygroma 0.3816668304358072 0.2291791073462778 0.818729710388636 1.0 1.0 7 P61978,Q14739 2 |
| Abnormal large intestine physiology 0.3117416532371979 0.2291499691041764 0.8187523568119304 1.0 1.0 21 P21964,P07602,P20700,Q9NZJ7,P06280 5 |
| Nonprogressive 0.3961194539650896 0.2266257734550677 0.8207147493507623 1.0 1.0 6 Q9NQZ5 1 |
| Facial diplegia 0.342256686672498 0.2231500636234747 0.8234187154145958 1.0 1.0 11 Q96TA2,P06753,Q96RR1,P12235,O43819 5 |
| Abnormal neuron morphology 0.2804756754271174 0.2228165941971553 0.8236782523554433 1.0 1.0 32 Q99720,Q15165,Q13510,Q92804 4 |
| Dysplasia of the femoral head 0.5591693626902424 0.2210876595308765 0.8250241787896653 1.0 1.0 3 O75431 1 |
| Fulminant hepatic failure 0.5589918225039019 0.2206914279127432 0.8253327064439411 1.0 1.0 3 Q16836 1 |
| Lower limb hypertonia 0.3456218836195134 0.2199529876172453 0.8259077684900129 1.0 1.0 10 Q14739 1 |
| Abnormal nipple morphology 0.2628386259438888 0.219009236829948 0.8266428524820069 1.0 1.0 62 O14678,Q9NP72,O95202,P56589,Q15233,P18074,O96028,Q9UM00,Q9Y2B2,Q96A33,Q12768,P61978,O60762,Q96EK5,Q15067,Q7LGA3,Q8IY17,Q5SRE5,P10586,Q6NUK1,Q9BV10,O60885,Q9UBM7,Q8WWQ0,Q969N2,P23786,Q9NXE4,Q9UQE7 28 |
| Abnormality of metacarpophalangeal joint 0.4175174170746318 0.216966304265905 0.8282346047339229 1.0 1.0 5 P16435 1 |
| Pituitary growth hormone cell adenoma 0.4828579660040247 0.2162201530520989 0.8288161452188223 1.0 1.0 4 P10644,O00170,Q9UBS4 3 |
| Abnormality of adrenal morphology 0.2866906027115631 0.2146464166025648 0.8300430020720424 1.0 1.0 27 P04637,P02545,Q02978,P21912,P16435,O75844,Q15738 7 |
| T lymphocytopenia 0.3443739122836213 0.2144767436214096 0.8301753009056212 1.0 1.0 10 P00813 1 |
| Ectopia pupillae 0.4164791019454461 0.2138801516546241 0.8306405187770143 1.0 1.0 5 O95202,O96028 2 |
| Abnormal shape of the palpebral fissure 0.3326853307248941 0.2133135479096438 0.8310824070280547 1.0 1.0 13 Q9UHX1 1 |
| Papilloma 0.3528354686138484 0.2120411990753894 0.8320748928203829 1.0 1.0 9 P16615,P21912 2 |
| Abnormality of the nail 0.257081141018216 0.2120008045932069 0.8321064066155155 1.0 1.0 127 P02545,P10321,O95202,Q13555,P04066,Q9Y487,P16615,O96028,Q96L58,Q9Y2B2,Q06136,O75844,O75431,Q9Y4P3,Q9BV10,Q9Y619,P78536,Q15125,P42892,P48651,Q14739,P53701 22 |
| Abnormality of the adrenal glands 0.2658951102691375 0.2105422542927038 0.8332444764851177 1.0 1.0 60 P56589,P04637,P02545,Q13423,Q02978,O95470,Q8WWQ0,P21912,O75381,P16435,O75844,P40855,P33991,Q15738 14 |
| Skin vesicle 0.3244113251214855 0.2096651505789718 0.8339290267526391 1.0 1.0 15 Q9NZ71,P06748,P16615,P98194 4 |
| Cataplexy 0.4798900356881477 0.2087108379886778 0.8346739789734281 1.0 1.0 4 O15118 1 |
| Arterial stenosis 0.3242039086948581 0.2085883692441392 0.8347695908619279 1.0 1.0 15 P01889,P02545,P21912 3 |
| Dolichocephaly 0.2796316095058327 0.2047236589443266 0.837788034726576 1.0 1.0 36 P56589,Q03164,O96028,P61978,O95721,P40855,Q7RTS9,O75381,O95202 9 |
| Pancreatic cysts 0.4132291581308173 0.2043261692857997 0.8380986211932702 1.0 1.0 5 Q9Y5S9,Q9UBS4 2 |
| Abnormal lactate dehydrogenase level 0.3132439481848523 0.2035012300359813 0.8387432843667677 1.0 1.0 19 Q9UJS0,P04637,Q5JRX3,Q96RL7,O43505,P41440,P23786 7 |
| Aganglionic megacolon 0.3131131706918388 0.2027385289387787 0.8393394067512889 1.0 1.0 19 P42892,P21964 2 |
| Cystic liver disease 0.3741903511710308 0.202404622860213 0.8396004146767864 1.0 1.0 7 Q9UGP8,Q7Z4L5 2 |
| Deviation of the 3rd finger 0.5338324215375776 0.2007263555629184 0.8409125503597579 1.0 1.0 2 Q9Y448 1 |
| Bilateral coxa valga 0.5498263506889918 0.2007176604175201 0.8409193497222378 1.0 1.0 3 Q96A33 1 |
| Abnormal pulmonary valve morphology 0.3165398303977999 0.1992147994955395 0.8420947231210381 1.0 1.0 17 P21964,P51798 2 |
| Aplasia of the uterus 0.3731643471756949 0.1988071066406769 0.8424136366653789 1.0 1.0 7 O95202,O96028 2 |
| Distal sensory impairment 0.2783820976945171 0.1986150837901422 0.8425638535240245 1.0 1.0 46 Q9NR77,P02545,P20700,P54802,P07196,Q8N2K0,O95831,P39210 8 |
| Cervical spinal canal stenosis 0.5326806795277866 0.1982926180382439 0.8428161269726147 1.0 1.0 2 Q9NSE4 1 |
| Neoplasm of the male external genitalia 0.3491483127585665 0.1970033116873456 0.843824946218074 1.0 1.0 9 Q13423 1 |
| Focal white matter lesions 0.3574561093002817 0.196659883547982 0.8440937052516619 1.0 1.0 8 P12235,O00584 2 |
| Prominent forehead 0.2580160232140263 0.1964377847540684 0.8442675243726177 1.0 1.0 78 Q7LGA3,P48651,Q14739,Q9UHX1,Q9Y2B2,P15586,Q6PGP7,Q15392,P04066 9 |
| Mixed hearing impairment 0.3571370871966596 0.195447280356786 0.8450428058620663 1.0 1.0 8 P78318,Q96L58,Q9NWM8 3 |
| Typical absence seizure 0.3254479820073508 0.1949672584203516 0.8454185797132685 1.0 1.0 14 Q01105,Q13510 2 |
| Urinary incontinence 0.2780782071638276 0.194614451147592 0.8456947889940634 1.0 1.0 44 Q99720,P07602,Q9NZJ7,P07196,P35637 5 |
| Overlapping fingers 0.3569148214271698 0.1946036241309479 0.8457032656570802 1.0 1.0 8 Q15125 1 |
| Abnormality of the plantar skin of foot 0.2778887095671172 0.1928999085682056 0.8470373566405531 1.0 1.0 44 P42167,Q9Y487,P16615,P02545,Q9Y2B2,O75431,P21912,Q06136,P61978,P53634,Q9NZ71,O95721 12 |
| Microcytic anemia 0.3391290672353314 0.1918168204388192 0.8478856948167837 1.0 1.0 10 Q9UBX3 1 |
| Rhinitis 0.3559634784175837 0.1910035571681528 0.848522806249506 1.0 1.0 8 P51798 1 |
| Impaired visuospatial constructive cognition 0.3473555586806248 0.1897913132113163 0.8494726632311027 1.0 1.0 9 P11166,P00403 2 |
| Abnormality of the pulmonary vasculature 0.2772520887526269 0.1881477862755008 0.850760801916326 1.0 1.0 43 Q7LGA3,P02545,O75718,Q6PGP7,Q15392,P51798 6 |
| Fragile skin 0.3373692661027531 0.1843455039429496 0.8537424185851163 1.0 1.0 10 Q96L58,Q8NCH0 2 |
| Abnormality of dental structure 0.2568365493807536 0.1829651787658822 0.8548253406849018 1.0 1.0 81 Q9HC07,P48651,Q9Y487,P21964,P02545,Q6P4Q7,Q96L58,P16278,O75431,P53701,P51648,O75844,P51798 13 |
| Aplasia hypoplasia of the nasal bone 0.5411056792756813 0.1826026721851673 0.8551097874982223 1.0 1.0 3 Q6NUK1 1 |
| Downturned corners of mouth 0.276303600143678 0.1817371048081285 0.855789045414145 1.0 1.0 42 Q9Y2B2,Q9H490,Q96A33,O95202,Q9UNW9,O75845 6 |
| Syncope 0.3327470207647061 0.1808623594222402 0.8564756143774512 1.0 1.0 11 P0DP25 1 |
| Abnormal cranial nerve morphology 0.255669139207908 0.17950832666422 0.857538579791048 1.0 1.0 66 Q96TA2,Q02978,Q969G3,P40855,P56589,O75340,P21912,P12235,O75381,O43819,P51798,P42356,Q13510,Q9UHX1,Q86U42,P22626,P53007,P07196,Q96RR1,Q14203,P48651,P06753,P16219,Q13501 24 |
| Adrenocorticotropin deficient adrenal insufficiency 0.5231788079470232 0.1788972960583638 0.8580183459699038 1.0 1.0 2 O00170 1 |
| X linked recessive inheritance 0.2702519095021975 0.1783539697674242 0.8584449964459115 1.0 1.0 55 P78318,Q15233,P38159,Q15904,P98175,P46020,P50402,P51571,Q15125,P51572,O95831,P06280 12 |
| Congenital sensorineural hearing impairment 0.3667923387482409 0.1768933558371505 0.8595921575967949 1.0 1.0 7 Q16740 1 |
| Hip subluxation 0.3517195438416 0.1751628578265952 0.8609516682398382 1.0 1.0 8 Q03252 1 |
| Cerebral visual impairment 0.2552057933064395 0.1739777446216857 0.8618829527027465 1.0 1.0 66 P03915,Q01105,P20700,Q96A33,P53007,P12235,P37268,Q2M389,Q9BSJ2,Q9H490,Q96RR1,P55011,Q96CU9,Q9NZ01,P00403,Q96N66 16 |
| Synostosis involving bones of the hand 0.3268232543507497 0.1727927528074308 0.8628143337802112 1.0 1.0 12 Q96L58,P48651,P16435 3 |
| Mild postnatal growth retardation 0.5188597754103177 0.1704859652082569 0.8646279709306477 1.0 1.0 2 Q9Y3E5 1 |
| Elevated circulating growth hormone concentration 0.5188597754103114 0.1704859652082448 0.8646279709306572 1.0 1.0 2 O00170 1 |
| Pituitary prolactin cell adenoma 0.5188597754103114 0.1704859652082448 0.8646279709306572 1.0 1.0 2 O00170 1 |
| Hypodontia 0.274801356461309 0.1704121291978803 0.864686033938685 1.0 1.0 48 P02545,O96028,Q9H2C2,Q9Y2B2,O75431,Q9Y4P3,O75844,O95202,Q15067 9 |
| Abnormal blood ion concentration 0.2557179703129538 0.1691383616669949 0.8656878113497979 1.0 1.0 73 P04637,Q9Y487,P21964,Q15904,Q13423,Q02978,P16930,P0DP25,P21912,P36551,Q9Y4P3,P05023,Q9BV10,Q6PGP7,P28288,P11166,O43819,P51798 18 |
| Mildly elevated creatine kinase 0.2921626561369325 0.1688477008238207 0.8659164371076931 1.0 1.0 24 O75340,P02545,P06753,Q9BPX6,O75648,Q96RR1,P43243,Q13501,P31483,P39210 10 |
| Pulmonary fibrosis 0.2987361591254142 0.1687976023474382 0.8659558443139503 1.0 1.0 22 P04062,P09601 2 |
| Decreased number of large peripheral myelinated nerve fibers 0.3778630482038089 0.1683308067052349 0.8663230393931964 1.0 1.0 6 P07196 1 |
| Congenital malformation of the right heart 0.3335043766093299 0.1681767400193441 0.8664442390829956 1.0 1.0 10 P40855,P01889 2 |
| Abnormal platelet morphology 0.4001817579432456 0.167627603896556 0.8668762536998735 1.0 1.0 5 O75845 1 |
| Long toe 0.3330562504269175 0.1663236901863991 0.8679022236246741 1.0 1.0 10 P23786,Q9UHX1 2 |
| Abnormal tongue physiology 0.2981885992982058 0.1654069368537157 0.8686236940627126 1.0 1.0 22 Q9BQT8,Q13510 2 |
| Amaurosis fugax 0.340801824201433 0.1639995510532094 0.8697314972337886 1.0 1.0 9 O15460,P01889 2 |
| Craniofacial hyperostosis 0.3762816667889654 0.1635491312881012 0.8700860926904674 1.0 1.0 6 P48651 1 |
| Tented upper lip vermilion 0.2947424909957485 0.1635132596873911 0.8701143339309252 1.0 1.0 23 Q15907,Q10471,Q96F07,Q9Y2B2,Q969N2,Q9Y263,O60762,Q9NXE4,Q14696,Q4J6C6 10 |
| Patent ductus arteriosus 0.2543228249650315 0.1635076761160988 0.870118729818224 1.0 1.0 89 P78318,Q6PGP7,Q15233,P42892,P21964,P02545,Q9UHX1,P0DP25,Q9Y4P3,P40855,Q9BV10,P51571,O75844,Q15392,Q9NWM8 15 |
| Abnormality of the musculature of the limbs 0.2666797859205366 0.16118971623991 0.8719439804588021 1.0 1.0 162 Q9NR77,P02545,Q9NZJ7,P00846,O60313,Q96RL7,Q9Y487,Q99720,Q9BTV4,Q9H2C2,P21912,Q7RTS9,Q9NW15,P12235,Q9HC21,Q15067,Q13510,P07602,P07196,P36551,O14979,Q9BQT8,Q15125,P39210,Q14739,P50402,P46783 27 |
| Coloboma 0.2705951702686708 0.1608464367826078 0.8722143501074797 1.0 1.0 53 O43924,P78318,O96028,Q9UHX1,Q9Y2B2,O43505,P61978,P53701,Q9P273,O95202 10 |
| Abnormal hand morphology 0.2499706955034816 0.1607453985912161 0.8722939314409595 1.0 1.0 118 Q03252,Q13510,Q9UHX1,P02545,Q03164,O96028,P38435,Q9Y2B2,Q8WVQ1,P13073,P16435,O75844,Q9BV10,P46783,O95202,Q15125,O95831,P51798 18 |
| Dimple chin 0.5133890008638176 0.1601962401961531 0.8727264910359085 1.0 1.0 2 Q69YQ0 1 |
| Abdominal aortic aneurysm 0.5292898268426194 0.1594682118073516 0.8733000011078464 1.0 1.0 3 P01889 1 |
| Facial hemangioma 0.396337709418823 0.1573362256770805 0.8749798718177231 1.0 1.0 5 P16435,Q9UBM7 2 |
| Respiratory tract infection 0.2685152657111273 0.1558828329133273 0.876125377232059 1.0 1.0 169 Q03518,P08236,Q92621,Q8NFH4,Q9NPL8,P16278,Q9NZJ7,P15586,O00754,O95202,P04066,Q9Y487,P01889,O96028,P09601,Q7RTS9,Q9H0U3,P53634,P51798,Q13510,O15460,P07602,P20700,P53007,P54802,Q9Y4P3,Q6NUK1,Q9BV10,Q8N5M9,P33991,P78318,P49711,P04062,O15357,P49792,P06753,P00813,P14174,Q8N1F7,Q9NZ71,O95721 41 |
| Supernumerary spleens 0.3267817153239414 0.1553804837162966 0.8765213690384233 1.0 1.0 11 Q15904,O95202 2 |
| Bell shaped thorax 0.3953861300767446 0.1548260881273198 0.8769584238488981 1.0 1.0 5 Q8WVQ1,Q96HY6 2 |
| Disproportionate tall stature 0.270868460009168 0.1531431059163978 0.878285423177458 1.0 1.0 31 Q7LGA3,Q8NCH0,O96028,Q9NWM8,O75648,P36543,P16435,O00754,O95202 9 |
| Abnormality of the choanae 0.2733723770880171 0.1526800274288722 0.878650611884009 1.0 1.0 37 O75844,P48651,P21964,P16435 4 |
| Multiple gastric polyps 0.509069968327106 0.1523609711316886 0.8789022381610885 1.0 1.0 2 P20585 1 |
| Foot oligodactyly 0.5090699683270977 0.1523609711316739 0.8789022381611 1.0 1.0 2 Q15427 1 |
| Motor axonal neuropathy 0.3061001162812959 0.1515774744091994 0.8795202009099108 1.0 1.0 18 P22626,O60313,O95831 3 |
| Vertical supranuclear gaze palsy 0.3191599150164343 0.1502737616974917 0.8805486330343082 1.0 1.0 13 P61916,Q96RL7,O15118,Q96RR1,Q14203 5 |
| Apnea 0.2531698346170311 0.1480488645667903 0.882304204768225 1.0 1.0 89 O43924,Q7KZN9,Q9P0J0,Q9NZJ7,O75880,P00846,O60313,O43464,Q96CU9,Q15233,Q96A33,O76024,P11166,O43819,P51798,O43772,Q86Y39,P07602,P04062,P98175,P23786 21 |
| Sparse or absent eyelashes 0.2728243040974107 0.1468795671031071 0.8832270800781485 1.0 1.0 28 O75844,Q15125 2 |
| Premature graying of hair 0.3280385742109918 0.1458906336521637 0.8840077257399368 1.0 1.0 10 Q9NZ71,Q13126,P02545 3 |
| Meningocele 0.3278188273030947 0.1450092179431512 0.8847035938534205 1.0 1.0 10 O75845 1 |
| Increased blood pressure 0.2536783016445254 0.142488640718718 0.886694051217193 1.0 1.0 75 P35610,Q10713,P04062,P42892,P01889,P02545,P21964,Q02978,P21912,P36551,Q9Y4P3,P35611,P16435,O75844,P28288,P00403,P06280 17 |
| Abnormal thyroid morphology 0.2715912945331516 0.1410452123754072 0.8878342250201396 1.0 1.0 40 P42892,P04637,P02545,Q969G3,P21912,O14654,P00813,Q96RR1,P12235,Q15738 10 |
| Vertebral clefting 0.333832777976218 0.1375991405308586 0.8905572348245947 1.0 1.0 9 O75845 1 |
| Abnormality of globe size 0.2519547169854499 0.1356103872340825 0.8921292934915497 1.0 1.0 66 O43924,P21964,O75569,Q9UHX1,O75431,O43505,P53701,Q9P273,P30533,P11166,Q15125 11 |
| Abnormal blood monovalent inorganic cation concentration 0.29328421497135 0.1354954936831071 0.8922201269227601 1.0 1.0 22 Q13423,P0DP25,P36551,Q9BV10,P11166 5 |
| Communicating hydrocephalus 0.3664784522272155 0.1349078851154957 0.8926847051285911 1.0 1.0 6 P11166,P07237 2 |
| Gait imbalance 0.2987650918567328 0.1343906113714058 0.8930937053291594 1.0 1.0 20 Q9NR77,Q9Y4P3,O43464 3 |
| Goiter 0.3402189960877873 0.1341064447574873 0.8933184035014754 1.0 1.0 8 P12235,P21912 2 |
| Upper limb undergrowth 0.2960617907905072 0.1340184793420727 0.8933879618540543 1.0 1.0 21 P98175,Q14739,Q9BV10 3 |
| Abnormal circulating tyrosine concentration 0.5140164173854967 0.1320052417183307 0.8949801457419346 1.0 1.0 3 Q9UJS0 1 |
| Skin rash 0.2983379686917354 0.1319872653474999 0.8949943644036309 1.0 1.0 20 Q14739,Q06136 2 |
| Abnormality of prothrombin 0.311580698293595 0.1291855491926304 0.8972108304640916 1.0 1.0 14 Q5XKP0,Q9UJS0,P38435,Q9BV10 4 |
| Abnormal circulating fatty acid anion concentration 0.3080877917455367 0.1283648497092559 0.8978602468546559 1.0 1.0 15 O75880,P23786,P16219,O43772 4 |
| Epigastric pain 0.4932335156924884 0.1258022475184778 0.8998884626478845 1.0 1.0 2 P35222 1 |
| Portal vein thrombosis 0.4932335156924884 0.1258022475184778 0.8998884626478845 1.0 1.0 2 P35222 1 |
| Difficulty standing 0.4432795629930881 0.125766987105207 0.8999163747024808 1.0 1.0 4 Q7RTS9,Q8WVX9 2 |
| Unconjugated hyperbilirubinemia 0.4428118697781527 0.124827096065328 0.9006604356054653 1.0 1.0 4 P37287,O14936,Q9NSD9 3 |
| Skin tags 0.294187933694862 0.1231884080704532 0.9019579046713344 1.0 1.0 21 O95202,Q9UHX1 2 |
| Dermatological manifestations of systemic disorders 0.2520087247280591 0.122888367808763 0.9021954969506488 1.0 1.0 74 P02545,P00387,Q6PGP7,P40855,P04066,Q9UJS0,P56589,O75844,Q5HYI8,P11166,O75381,O43772,Q15904,P53007,O75648,P36551,P28288,P39210,P61916,P49711,P04637,Q14739,P00374,P98175,O15118 25 |
| Pain insensitivity 0.382662269283579 0.1227180385921061 0.9023303791048942 1.0 1.0 5 P39210 1 |
| Expressive language delay 0.3297504585009275 0.1226459093287024 0.9023874984611636 1.0 1.0 9 Q9UHX1 1 |
| Abnormality of the ankles 0.2699335192955611 0.122580096709428 0.9024396160909508 1.0 1.0 44 P02545,P07602,Q9NZJ7,O75844,Q9NW15 5 |
| Increased endomysial connective tissue 0.488914483155782 0.1191470772944014 0.9051588340665556 1.0 1.0 2 Q5JTV8 1 |
| Premature loss of primary teeth 0.5061218202983193 0.1188973520614949 0.90535667963046 1.0 1.0 3 P51798 1 |
| Vitreous hemorrhage 0.3807065844530637 0.1180267832686617 0.906046436221242 1.0 1.0 5 O75533,P29992 2 |
| Chromosome breakage 0.3175369256570807 0.117596011609153 0.9063877652939112 1.0 1.0 11 P13073 1 |
| Cranial nerve compression 0.3168748788345825 0.1149730556255504 0.9084664788879836 1.0 1.0 11 P22626,P51798,P21912 3 |
| Quadriceps muscle weakness 0.3590497235511876 0.1143830386645867 0.9089341589292854 1.0 1.0 6 P12235 1 |
| Vasculitis 0.3199704758744499 0.1142930590697324 0.9090054845053082 1.0 1.0 10 Q9NZ08,P01889 2 |
| Kinetic tremor 0.2683756092713868 0.1123370323289087 0.9105561800718662 1.0 1.0 38 Q15233,P07602,P20700,Q9NZJ7,Q8N2K0,P41440,Q9NW15,Q14108 8 |
| Aplasia hypoplasia of the gallbladder 0.5014400921659073 0.1114741812972237 0.911240338317184 1.0 1.0 3 P18583,Q69YQ0 2 |
| Aplasia cutis congenita of scalp 0.3579579612071271 0.1114542818105581 0.91125611748292 1.0 1.0 6 O95202 1 |
| Abnormal morphology of myocardial trabeculae 0.4358084642704628 0.1111227078497443 0.9115190419970796 1.0 1.0 4 Q15233 1 |
| Recurrent otitis media 0.2642836962688662 0.1109872463797284 0.9116264601606332 1.0 1.0 30 Q14739,Q8N5M9 2 |
| Premature pubarche 0.4820040310970367 0.1090165886505163 0.913189332913944 1.0 1.0 2 O00170 1 |
| Polyarticular arthropathy 0.4805643535848015 0.1069856361108966 0.9148003750703396 1.0 1.0 2 Q9UBC1 1 |
| Hyperhomocystinemia 0.43203356059399 0.1040243879239699 0.9171499947966996 1.0 1.0 4 P41440 1 |
| Difficulty running 0.313838635698438 0.1030901718231349 0.9178914052122318 1.0 1.0 11 P07196,P06753,Q9BPX6 3 |
| Autoamputation 0.3429033720345796 0.1017218057162399 0.918977493465015 1.0 1.0 7 P39210 1 |
| Rib segmentation abnormalities 0.4300538000355609 0.1003826182256937 0.9200405687057334 1.0 1.0 4 O95202 1 |
| Abnormality of abdominal situs 0.4300538000355609 0.1003826182256937 0.9200405687057334 1.0 1.0 4 O95202 1 |
| Hypoplastic pubic rami 0.4300538000355609 0.1003826182256937 0.9200405687057334 1.0 1.0 4 O95202 1 |
| Turricephaly 0.3131227078936746 0.1003236261578394 0.9200874011522512 1.0 1.0 11 P07237,P21964,P16435 3 |
| Abnormal cardiac test 0.297107693744511 0.0977823951083524 0.9221050870513868 1.0 1.0 17 Q9BTV4,P12235,Q96RR1,P0DP25 4 |
| Fatty replacement of skeletal muscle 0.3286761371277759 0.0958033243373659 0.9236767770675172 1.0 1.0 8 P22626,P51114,O75190 3 |
| Abnormal circulating glutamine family amino acid concentration 0.3406454778581781 0.0952187366767971 0.924141087888026 1.0 1.0 7 P20674,O96000 2 |
| Abnormality of the musculature of the hand 0.2657561043130752 0.0940255803913381 0.9250888365358804 1.0 1.0 36 P07196,Q9NR77,Q9BQT8 3 |
| Patellar aplasia 0.4891625499488589 0.093239898365789 0.9257129781197432 1.0 1.0 3 Q9Y619 1 |
| Difficulty in tongue movements 0.4890552995391805 0.093088431711707 0.9258333076856882 1.0 1.0 3 P08754,P10253 2 |
| Immunodeficiency 0.248469409129334 0.0929268159603168 0.9259617018640084 1.0 1.0 67 Q03252,P21964,O96028,Q9BT22,P09601,Q96A33,P00813,Q6PGP7,O95202 9 |
| Athetosis 0.3031868327571091 0.0919464700033466 0.9267405700854812 1.0 1.0 14 O14949,Q96CU9,O00584,P00387 4 |
| Abnormal fingernail morphology 0.2612945880707334 0.0888890274558127 0.9291701038539926 1.0 1.0 55 P48651,Q14739,P02545,O75844,Q15125 5 |
| Spasticity 0.2780231558287807 0.0886423446770782 0.9293661543357234 1.0 1.0 324 Q6DKK2,Q7KZN9,Q9UBX3,P50897,P16278,Q9P0J0,Q9NZJ7,Q9Y320,P00846,O60313,O43464,Q9BSJ2,Q15165,Q96CU9,O15121,Q9GZY8,P40855,P04066,P56589,Q9Y487,O00584,Q99720,Q9H6K4,Q9H2C2,Q86SQ9,Q01105,P21912,P35637,Q7RTS9,Q15041,Q9NZ01,P11166,O75381,O43819,Q96N66,Q3ZCQ8,Q15907,P35610,O75503,Q13510,Q9NZB8,P07602,P11117,P20700,P07196,Q8N2K0,Q9Y4P3,Q5KU26,Q9Y619,Q15392,Q9UNW9,O95831,P04062,Q5XKP0,Q9H9P8,P49792,Q9H490,O15118,O43505,P51648,Q86XL3,Q9NVI7,Q92804,P17900,Q96D71 65 |
| Neoplasm of the thyroid gland 0.2759929172161237 0.0882931849426131 0.9296436554306836 1.0 1.0 25 P42892,P02545 2 |
| Abnormal posterior segment imaging 0.3667854002076987 0.0865510111416435 0.9310284071432068 1.0 1.0 5 P04439 1 |
| Abnormality of the zygomatic bone 0.2490503697247447 0.0853634675459266 0.9319724357910232 1.0 1.0 83 Q9HC07,Q15233,Q14739,Q9Y487,O15357,P21964,P02545,Q96L58,Q14999,Q9H490,Q8WVQ1,P36543,Q9Y4P3,P16435,O00754,Q15125,O95831,Q15738 18 |
| Exertional dyspnea 0.2897175609923673 0.0848365041639128 0.932391372013365 1.0 1.0 20 P02545,Q9NZ71,Q6UN15,Q96RR1,P00387,O75844,P12235 7 |
| Sleep wake cycle disturbance 0.3657060518731925 0.0842524011285608 0.9328557561770584 1.0 1.0 5 Q9Y4R8,Q05086,Q8N3U4,Q9UBM7 4 |
| Central nervous system cyst 0.2570260174116157 0.0822626060126208 0.9344378896795312 1.0 1.0 58 Q9Y487,Q9UHX1,O96028,O43505,P00846,P23786,O95202,Q15125 8 |
| Focal motor seizure 0.2891887031548044 0.0820308028089529 0.9346222188918424 1.0 1.0 20 Q01105,O75503 2 |
| Hypokalemia 0.3180398827389746 0.0819490001888981 0.934687268927181 1.0 1.0 9 P05023,P0DP25 2 |
| Ambiguous genitalia 0.2813005587634949 0.0817997869141563 0.9348059255257288 1.0 1.0 23 Q15392,O75845,P16435 3 |
| Plantar hyperkeratosis 0.2640618674909912 0.0811861399913401 0.9352939218134502 1.0 1.0 36 P42167,P16615,P02545,Q9Y2B2,O75431,Q06136,O95721 7 |
| Abnormality of the brainstem white matter 0.4189199087137435 0.0809400802643756 0.9354896050731148 1.0 1.0 4 P20700 1 |
| Bilateral ptosis 0.3006098355453677 0.0809321298970828 0.9354959278054658 1.0 1.0 14 O60313,Q9UNW9 2 |
| Calvarial hyperostosis 0.3633382452161505 0.0792818271102884 0.9368084606621404 1.0 1.0 5 P22626,P09651 2 |
| Increased laxity of ankles 0.4566657068816551 0.077168518513425 0.9384894855308848 1.0 1.0 2 O95140 1 |
| Abnormal circulating ferritin concentration 0.3443360973977599 0.0768443466443338 0.9387473714937936 1.0 1.0 6 P41440 1 |
| Abnormal metabolism 0.2645700550136696 0.0763066350945055 0.9391751471952188 1.0 1.0 47 Q8TCJ2,O14678,Q9Y487,Q9BT22,Q15904,P46977,Q8N511,P41440,P51571,Q9H0U3,P46783 11 |
| Recurrent paroxysmal headache 0.3091594784237166 0.0745219622792093 0.9405950663814004 1.0 1.0 10 Q02978,P00403,P21912 3 |
| Type i diabetes mellitus 0.3062543003305146 0.0744837313097422 0.9406254857404446 1.0 1.0 11 P00403,Q13217,P03915 3 |
| Capillary malformation 0.3010195542580843 0.0732951032768898 0.9415712882402208 1.0 1.0 13 Q9UHX1 1 |
| Abnormality of the pulmonary artery 0.2630771404702516 0.0719381340378163 0.9426511420780644 1.0 1.0 37 Q7LGA3,P02545,Q6PGP7,O75718,P51798 5 |
| Birth length greater than 97th percentile 0.4511949323351598 0.0713415092926542 0.9431259597343212 1.0 1.0 2 Q15022 1 |
| Abnormal ureter morphology 0.2690151416164413 0.0670352804591042 0.9465536166126624 1.0 1.0 26 Q7LGA3,P02545,O76024,P23786,O75844 5 |
| Delayed closure of the anterior fontanelle 0.3008145023083532 0.0661297446040792 0.9472745299061214 1.0 1.0 12 O75381,P40855,Q9Y487 3 |
| Plagiocephaly 0.2616291343621098 0.0658643669088917 0.947485810042794 1.0 1.0 35 Q15233,Q96L58,Q01105,Q9Y2B2,Q96A33,Q9BV10 6 |
| Rib fusion 0.3125694102826677 0.0640983302870142 0.9488919313519226 1.0 1.0 9 Q9UM00,O95202,O96028 3 |
| Abnormality of the cervical spine 0.2444539687513055 0.0635225433875238 0.9493504084651164 1.0 1.0 120 Q7LGA3,P08236,P21964,Q8NCH0,Q9UHX1,Q9Y2B2,P16278,P50402,P15586,Q8WVQ1,Q7RTS9,Q96HY6,P11166,Q15125,O95831,P04066 16 |
| Heinz bodies 0.4425568672617348 0.0628588226553677 0.9498789247270244 1.0 1.0 2 O14936 1 |
| Abnormal ilium morphology 0.2778800090426261 0.0621509419339866 0.950442629579482 1.0 1.0 23 P49585,P01889,Q96L58,P16278,Q7RTS9,O00754,O95831 7 |
| Preaxial hand polydactyly 0.2997400403567665 0.0621261176447301 0.9504623982942972 1.0 1.0 12 O95202,Q9UHX1 2 |
| Hypomimic face 0.2934338599754671 0.061956271745266 0.9505976551551256 1.0 1.0 15 O75787,P04062,Q9Y263,Q96RR1,P12235 5 |
| Bifid ribs 0.4623914736304068 0.0595412178818085 0.9525210365703676 1.0 1.0 3 Q9UM00 1 |
| Muscular dystrophy 0.267781968360761 0.0594102443076359 0.9526253536959894 1.0 1.0 26 P02545,Q9BTV4,O43505,P50402,O14979 5 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.278620339117946 0.0591155764195515 0.9528600521501815 1.0 1.0 255 O43924,Q9NX62,P08236,P02545,P16278,P51571,O95202,P40855,P04066,Q03164,O96028,Q96L58,Q9Y2B2,Q7Z4L5,Q7RTS9,O75844,Q9HC21,Q7LGA3,Q9UHX1,O75431,P37268,Q9BV10,Q9Y619,Q15392,Q15125,O75845,O95831,P55795,P04062,P48651,Q14739,Q8NCH0,Q9BT22,P21964,P53701,Q8WVQ1,Q86XL3,Q9NVI7,Q96HY6,P16435,P46783 41 |
| Cranial hyperostosis 0.2970716211554712 0.0578037178022774 0.9539049767548948 1.0 1.0 13 P22626,Q96L58,P48651 3 |
| Gray matter heterotopia 0.263798964427393 0.0577698491904962 0.953931954915452 1.0 1.0 27 Q9UEY8,Q15058,O43505,P61978,Q9BSJ2,Q6NUK1,Q86XL3,Q6ZXV5 8 |
| Limb dysmetria 0.459965437788029 0.056885645892268 0.9546362887151868 1.0 1.0 3 Q12768,P21359 2 |
| Hashimoto thyroiditis 0.459965437788027 0.056885645892266 0.9546362887151884 1.0 1.0 3 Q96J02,Q15437 2 |
| Aplasia hypoplasia of the cerebral white matter 0.3102764669970823 0.0568427783063554 0.9546704368458384 1.0 1.0 9 P11166,P00403 2 |
| Abnormal morphology of the abdominal musculature 0.3036703648432742 0.0555110866331688 0.9557312977142872 1.0 1.0 10 Q8NCH0 1 |
| Focal tonic seizure 0.4327670601785324 0.0542642148812839 0.956724659914215 1.0 1.0 2 Q9H936 1 |
| 2 3 toe cutaneous syndactyly 0.4295997696515987 0.0517058168149875 0.9587631022936436 1.0 1.0 2 P27635 1 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.3492082370190347 0.0516805987643391 0.9587831965211912 1.0 1.0 5 P12235 1 |
| Physical urticaria 0.428735963144258 0.0510263765187109 0.9593045024986064 1.0 1.0 2 Q9Y5L0 1 |
| Adenocarcinoma of the small intestine 0.453629032258068 0.0502506634508642 0.9599226389241308 1.0 1.0 3 P25054,P78549 2 |
| Duodenal adenocarcinoma 0.453629032258068 0.0502506634508642 0.9599226389241308 1.0 1.0 3 P25054,P78549 2 |
| Splanchnic vein thrombosis 0.4513248847926308 0.0479443535183096 0.9617605910175482 1.0 1.0 3 Q9NWH9,P35222 2 |
| Spastic tetraplegia 0.2597544836878971 0.0460515357012599 0.9632691739008132 1.0 1.0 40 Q13813,O43681,Q9NZB8,P49792,P16278,Q9Y320,Q86XL3,P00387,O15121,P04066 10 |
| Elevated urinary carboxylic acid 0.3220998346382863 0.0459605685242112 0.9633416784362951 1.0 1.0 7 O96000 1 |
| Atelectasis 0.2920604080700589 0.0458678740266824 0.9634155600281888 1.0 1.0 14 P21964,Q13510 2 |
| Progressive visual field defects 0.4218255110855146 0.0458662848551158 0.9634168266705712 1.0 1.0 2 P35222 1 |
| Dilatation of the cerebral artery 0.2952606718416348 0.0458026543083465 0.9634675432008288 1.0 1.0 12 P10253,P38435,Q9UBS4 3 |
| Excessive wrinkled skin 0.2951886461364266 0.0455450709128816 0.9636728507566776 1.0 1.0 12 Q9NZ71,Q9Y487 2 |
| Open mouth 0.2547394892989657 0.0444518378218794 0.9645442418483788 1.0 1.0 30 Q15233,P61978,Q86XL3,P04062 4 |
| Irregular femoral epiphysis 0.4195220270659398 0.0442524695005197 0.9647031583733264 1.0 1.0 2 Q9NUQ7 1 |
| Enlarged metaphyses 0.4195220270659394 0.0442524695005194 0.9647031583733268 1.0 1.0 2 O94766 1 |
| Hypoplasia of the frontal lobes 0.3000759268592601 0.0435084930885526 0.965296194432977 1.0 1.0 10 Q15058,P42695,Q86XL3,Q9UBM7 4 |
| Extrapyramidal dyskinesia 0.445683473679666 0.042532584325075 0.9660741367092238 1.0 1.0 3 P11166 1 |
| Cavum septum pellucidum 0.2970634991824884 0.0419595686714201 0.9665309292383109 1.0 1.0 11 O95202,Q9BV10 2 |
| Lymphedema 0.2856835424850149 0.0415170714753683 0.966883683518118 1.0 1.0 16 P08236,Q14739 2 |
| Abnormal vitamin b12 level 0.3282048992186318 0.0405869557645549 0.9676251833805828 1.0 1.0 6 P41440 1 |
| Abnormality of the liver 0.2760242962821993 0.0400829784314091 0.9680269721394876 1.0 1.0 321 O43676,Q9NWS8,P00846,Q14108,Q9UGP8,P56589,P50416,Q86SQ9,P09601,Q9H0U3,O96000,P35610,Q10713,Q86Y39,P07602,P54802,O43681,P55263,P04062,Q14739,Q9BT22,P10619,P16219,P00813,P14174,Q9NZ71,P20674,Q8N511,P16278,P15586,Q13724,O00754,Q9UJS0,Q96RL7,P11717,P28070,P53634,P16930,P51798,Q15067,Q13510,O43772,P53007,O75648,Q96RR1,Q9Y619,P28288,O75845,P61916,Q9HC07,P49711,P04637,P21964,O15118,Q7KZN9,P08236,P02545,Q9NZJ7,Q6PGP7,O95202,P04066,Q7Z4L5,Q96A33,Q5HYI8,P11166,Q9HC21,Q15904,Q8IUX1,O75431,Q9Y6M9,Q03252,Q9NVI7,Q96HY6,Q5XKP0,Q9NPL8,O75880,Q96CU9,P40855,O96028,P21912,Q01844,P12235,O75381,P22626,P36551,Q9Y4P3,P14927,P33991,P39210,P00374,P23786 91 |
| Shawl scrotum 0.3277668057106792 0.0396747301827232 0.9683524482028688 1.0 1.0 6 Q9Y619 1 |
| Abnormality of renal excretion 0.3195034603522251 0.0396672466725717 0.9683584144834032 1.0 1.0 7 O43772 1 |
| Tall stature 0.2481388561496197 0.0375095065405297 0.9700787603590306 1.0 1.0 61 Q15233,Q7LGA3,Q8NCH0,O96028,Q13423,Q9Y2B2,Q9NWM8,P06753,O75648,P61978,P36543,P16435,O00754,O95202,Q3ZCQ8,Q15738 16 |
| Multifocal seizures 0.3882493716595813 0.0363898133142303 0.9709715365988654 1.0 1.0 4 Q10471,Q96S52 2 |
| Crumpled long bones 0.438146830723966 0.0358112701006071 0.9714328465914636 1.0 1.0 3 O75718 1 |
| Hand oligodactyly 0.4377880184331909 0.0355054658851765 0.971676687978841 1.0 1.0 3 Q9P2D1,Q15427 2 |
| Abnormal circulating metabolite concentration 0.2676506942494106 0.0344142570881203 0.9725468146940596 1.0 1.0 366 O43676,Q8NFH4,P00846,Q9UGP8,P56589,P50416,Q70HW3,O75844,Q15800,O43819,O96000,Q9Y584,P35610,Q86Y39,P07602,P37268,P05023,Q15392,Q15125,Q9HCC0,P55263,Q14739,Q5JRX3,Q9BT22,P06753,P16219,P14174,O95470,P20674,O14678,Q92621,Q13423,Q86VD7,Q8N511,Q02978,P0DP25,P36543,Q6ZXV5,Q99797,Q9UJS0,Q96RL7,Q9Y487,P05067,P28070,P16930,Q9NWM8,P51798,O43772,Q9NZB8,Q86U42,P49257,P42166,P07196,O75648,Q96RR1,Q9Y619,P28288,O75845,O95831,Q15738,P61916,Q9HC07,P49585,P04637,P21964,O15357,P50402,P22695,P53985,P02545,Q9P0J0,Q9NZJ7,Q6PGP7,P11166,Q15904,P13473,Q8IUX1,O75431,Q9Y6M9,Q9BV10,O14979,P42167,Q03252,Q9H9P8,O43505,Q9NVI7,Q5XKP0,Q9NPL8,O75880,P41440,Q96CU9,P40855,Q9BTV4,P21912,P12235,O75381,P06280,P22626,Q9BPX6,P36551,Q9Y4P3,P39210,Q8N1F7,P23786,P46020 105 |
| Atrophy degeneration affecting the cerebrum 0.2770078791276474 0.0315797619416917 0.9748071829702992 1.0 1.0 254 O43924,Q6DKK2,O14678,P50897,P16278,Q9Y320,Q9NZJ7,Q9NWS8,Q13724,P00846,O60313,O43464,P13073,P00387,P40855,P00403,P04066,Q96RL7,Q86SQ9,Q9UM00,Q9H2C2,P05067,Q01105,Q9Y2B2,Q13217,Q96A33,O76024,Q9NZ01,P11166,Q3ZCQ8,P51572,Q96N66,Q10713,Q7LGA3,O75503,Q9UHX1,Q9NZB8,P07602,P20700,O96008,Q9Y4P3,Q5KU26,Q9Y619,Q9UNW9,O75845,O95831,P55263,P04062,Q5JRX3,Q9BT22,P00374,Q9H9P8,Q9H490,O14773,P51970,Q9NZ71,P17900,Q96D71 58 |
| Abnormality of the forearm 0.2581139517500235 0.0313879338131099 0.9749601638335804 1.0 1.0 51 P48651,Q32P28,O96028,Q96L58,Q9Y4P3,Q8WVQ1,Q9BV10,P16435,O95202 9 |
| Abnormal central sensory function 0.383573252647486 0.0307263573876953 0.9754877709274924 1.0 1.0 4 Q969G3 1 |
| Overriding aorta 0.3063229005399671 0.0305228346615646 0.9756500824371022 1.0 1.0 8 P53701 1 |
| Cystinuria 0.3956233803627946 0.0303803054399583 0.9757637515875746 1.0 1.0 2 Q4J6C6 1 |
| Tip toe gait 0.3956233803627939 0.0303803054399581 0.9757637515875748 1.0 1.0 2 O75477 1 |
| Congenital malformation of the left heart 0.3828867761452063 0.0299192252738362 0.9761314731611828 1.0 1.0 4 Q12768,O60826,Q8N3U4 3 |
| Interrupted aortic arch 0.4294354838709744 0.0287410527124092 0.9770711145500836 1.0 1.0 3 Q96DF8,Q9P2D1 2 |
| Lambdoidal craniosynostosis 0.3814452493706954 0.028244406146384 0.9774672203541817 1.0 1.0 4 P16435 1 |
| Respiratory failure requiring assisted ventilation 0.3348368430112093 0.0272165462579683 0.978287018589198 1.0 1.0 5 O75648,P10253 2 |
| Progressive distal muscle weakness 0.3800057620282175 0.0265989667502556 0.9787795973831022 1.0 1.0 4 P40939,O14908,Q7Z406 3 |
| Polygenic inheritance 0.3337175792507118 0.0254622767256438 0.9796862375366936 1.0 1.0 5 P35658,P50454,P04637,P11274 4 |
| Anal stenosis 0.3337175792507104 0.0254622767256413 0.9796862375366956 1.0 1.0 5 Q08J23,Q9P2D1,Q69YQ0,O15550 4 |
| Abnormally large globe 0.2996640988309991 0.0250455166026638 0.9800186579829548 1.0 1.0 9 O75431 1 |
| Long penis 0.3826662827526654 0.0248035668276695 0.9802116460178842 1.0 1.0 2 O00170 1 |
| Equinus calcaneus 0.3797869277281933 0.0237258812186801 0.9810712615869916 1.0 1.0 2 P40939 1 |
| Pseudobulbar paralysis 0.3034749709120976 0.0230839881586944 0.9815832778822948 1.0 1.0 8 P42356,Q15233,P20700 3 |
| Adenomatous colonic polyposis 0.331988472622469 0.0227945898179211 0.9818141236047468 1.0 1.0 5 P28340,P25054,P78549,P20585 4 |
| Abnormal sclera morphology 0.2524573443039449 0.0222924418972102 0.9822146778779162 1.0 1.0 31 Q8NCH0,Q96L58,P07237,Q8WVQ1,P00387,O75718 6 |
| Asthma 0.2788089536821934 0.0216966036728616 0.9826899730127688 1.0 1.0 19 P00813 1 |
| Broad nasal tip 0.2520832981413 0.021668255726951 0.9827125860849992 1.0 1.0 57 O43924,Q7LGA3,Q9Y487,Q9UHX1,P16278 5 |
| Decreased plasma carnitine 0.2870758872143664 0.020739094601712 0.983453782736474 1.0 1.0 13 O75880,P23786,O43772 3 |
| Generalized hypotonia 0.2674535380707593 0.0191388452947226 0.9847303430342856 1.0 1.0 364 Q8TCJ2,Q9NR77,O43676,P50897,Q9NWS8,Q92643,O14949,P56589,Q15233,P50416,Q86SQ9,Q70HW3,P61978,Q53H12,Q9NZ01,O43819,Q3ZCQ8,Q10713,Q9UHX1,Q86Y39,P07602,Q15058,O43681,Q15125,Q9HCC0,P55263,Q8NCH0,Q9BT22,P06753,P17900,O95470,O43924,Q9UBX3,Q86VD7,Q8N511,P13073,Q9Y487,Q01105,P51798,Q15907,O43772,P46977,P11117,Q9Y619,O75845,O95831,Q9HC07,P48651,O15118,Q7KZN9,Q9P0J0,Q9NZJ7,O95202,Q13555,Q03164,Q9H2C2,Q9Y2B2,Q96A33,Q96N66,Q6P4A7,O75431,Q9Y6M9,Q9BV10,Q9UNW9,P06865,Q8WVQ1,Q9NVI7,Q5XKP0,Q96D71,O75880,O43464,P51571,Q96CU9,P40855,O96028,Q96L58,P21912,P12235,O75381,Q5KU26,P39210,P00374,P98175,P23786 84 |
| Preaxial polydactyly 0.2800854859781668 0.0190698186623478 0.9847854082688832 1.0 1.0 17 O43924,O95202,Q9UHX1 3 |
| Abnormal circulating aromatic amino acid concentration 0.3170885553440793 0.0186270508318321 0.9851386231342408 1.0 1.0 6 Q9UJS0 1 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.3292159621004555 0.0186241037631634 0.9851409741469984 1.0 1.0 5 Q13510 1 |
| Moderate global developmental delay 0.2970219626038786 0.0175923448660284 0.9859640636451996 1.0 1.0 9 O95831 1 |
| Craniosynostosis 0.2569211856626403 0.0155100094680172 0.9876252990533738 1.0 1.0 44 Q9NX62,P21964,Q8NCH0,Q9UM00,Q96L58,P07237,P61978,Q6NUK1,P16435,O00754,P51798,Q9Y619 12 |
| Eeg with frontal epileptiform discharges 0.3489778289663082 0.0152446117828905 0.9878370307334934 1.0 1.0 2 P42356 1 |
| Deformed tarsal bones 0.3340051828390375 0.0127311814314136 0.9898422612952638 1.0 1.0 2 O75787 1 |
| Skin appendage neoplasm 0.3250720461095016 0.0126344045302622 0.9899194718804688 1.0 1.0 5 Q15437,P25054,P43246,P35222 4 |
| Motor regression 0.33285344082925 0.0125715943724454 0.9899695831557588 1.0 1.0 2 P51659 1 |
| Biventricular hypertrophy 0.4046177880053268 0.0123866341473831 0.9901171485729858 1.0 1.0 3 Q9BV10 1 |
| Abnormality of upper limb epiphysis morphology 0.2784629389443018 0.0121169717807795 0.9903322918634484 1.0 1.0 17 O95202,Q7RTS9,P16435 3 |
| Accelerated skeletal maturation 0.2845259876667037 0.0117933116808405 0.990590516804898 1.0 1.0 13 Q03164 1 |
| Germinoma 0.3247912467607246 0.0115714206821994 0.9907675481257076 1.0 1.0 2 P35222 1 |
| Testicular dysgenesis 0.2951338900086284 0.0092744100422056 0.992600197498864 1.0 1.0 2 Q9H0U9 1 |
| Hepatoblastoma 0.2869487916823406 0.0089986995733278 0.9928201734429192 1.0 1.0 11 Q6PGP7,Q969G3 2 |
| Decreased circulating gonadotropin concentration 0.3626636515096698 0.0088355783273807 0.9929503201920188 1.0 1.0 4 Q969G3 1 |
| Abnormal mitochondrial shape 0.3222820631351455 0.0087645396944182 0.9930069986258074 1.0 1.0 5 Q9GZY8 1 |
| Abnormal blood phosphate concentration 0.2864369852534998 0.0074118133762619 0.994086282684566 1.0 1.0 11 P16930,P51798 2 |
| Impotence 0.2861166854045206 0.0064227167660147 0.994875448686404 1.0 1.0 11 P20700,Q8WWQ0,Q969G3 3 |
| Erectile dysfunction 0.2861166854045206 0.0064227167660147 0.994875448686404 1.0 1.0 11 P20700,Q8WWQ0,Q969G3 3 |
| Neurogenic bladder 0.2881280039568533 0.0062236816578548 0.9950342525512532 1.0 1.0 10 O76024 1 |
| Abnormal respiratory system morphology 0.2742040674459585 0.0054747292127338 0.9956318199075902 1.0 1.0 322 Q03518,P08236,P02545,Q9NPL8,Q9NZ08,P16278,Q9NZJ7,P15586,Q6PGP7,Q15165,O95202,Q14108,P04066,Q9Y487,P01889,O96028,Q96L58,P09601,Q9Y2B2,Q7Z4L5,P35637,P28070,Q7RTS9,O75844,Q01844,O96000,P51798,P06280,Q7LGA3,Q13510,Q9UHX1,P07602,P20700,P54802,Q9Y4P3,Q9BV10,Q15392,Q15125,Q8N5M9,P33991,P78318,P04062,Q14739,Q8NCH0,P21964,P49792,Q8IZA0,P98175,P00813,Q96HY6,P16435,Q92804,O75718,O95721 54 |
| Bone fracture 0.3038899752294404 0.0049960594845762 0.9960137378556668 1.0 1.0 7 Q13724,Q13126,P51798 3 |
| Agenesis of corpus callosum 0.242116795485751 0.0042357760343471 0.996620349805346 1.0 1.0 88 P78318,Q10713,Q7LGA3,P48651,Q9UHX1,O96028,O43505,P61978,P53701,Q86XL3,P23786,Q15392,O95202,P00403,Q9HC21 15 |
| Central hypothyroidism 0.2874458874458999 0.0042184152294539 0.9966342015997782 1.0 1.0 10 Q99496,P27635,Q969G3,O00170,P35222,O14654,Q9NW13,Q14683,Q8N3U4 9 |
| Abnormal renal physiology 0.2584629466056449 0.0016251254327131 0.9987033380786244 1.0 1.0 168 O43676,Q8NFH4,Q9NPL8,Q9NZ08,Q9NWS8,Q96CU9,P40855,P00403,Q14108,P50416,P01889,Q86SQ9,P09601,Q7Z4L5,O76024,P21912,O43819,O96000,P06280,Q10713,O43772,Q86Y39,O15460,Q8IUX1,Q9Y6M9,P36551,Q9Y4P3,P04062,Q03252,Q8NCH0,Q9BT22,P00813,O95721,Q8N1F7,P23786,O95470 36 |
| Abnormality of the antihelix 0.2845305590120447 0.0015703222921741 0.9987470646025278 1.0 1.0 11 P16435 1 |
| Chills 0.3798963133640648 0.000932844672008 0.999255697746526 1.0 1.0 3 P40939,P11171 2 |
| Protruding ear 0.2549504480592747 0.0008728060605934 0.9993036016080956 1.0 1.0 50 Q8NCH0,P20700,Q06136,O43505,P61978,Q9BSJ2,Q9Y4P3,Q13555 8 |
| Spinal cord lesion 0.353028363011631 0.0005327462935143 0.999574929977687 1.0 1.0 4 Q12768,Q9Y2U8 2 |
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