| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Corneal opacity 0.6063364704928143 2.910438593763209 0.0036092188120868 0.9999998866122332 0.2167786961687932 41 Q15056,Q06136,P06280,O75844,O96028,P04062,P35250,P18074,P10619,Q9Y4P3,P16278,Q13510,Q9UBM7,Q99519 14 |
| Abnormal biliary tract morphology 0.735108036459772 2.775635953849278 0.0055093859600379 0.9999999999755744 0.2167786961687932 17 Q14108,P04062,Q5XKP0,P09601,Q14739 5 |
| Mental deterioration 0.4900324527682664 2.742114552613642 0.0061045048385093 0.9999999999982702 0.2167786961687932 81 P21964,P09651,P50897,P16278,Q9BQE5,P31483,Q13501,O75306,P05067,O43464,O75503,Q13510,Q14108,P61916,P18074,P00403,P17900,O15118,O95140,P04062,P22626,P35637,Q03164,P54802,Q5XKP0,Q9Y487,O43681 27 |
| Abnormality of the larynx 0.5946324993376887 2.7299143579896965 0.0063350780665594 0.99999999999938 0.2167786961687932 38 Q13501,Q9UHX1,Q92804,P35637,Q15165,Q13510,Q9UBM7,Q14739 8 |
| Skin nodule 0.7171791539277541 2.6771244384481867 0.0074257049921677 0.9999999999999952 0.2333648435461103 17 Q9NZ08,O75874,P35637,P48735,Q13510 5 |
| Abnormal vascular physiology 0.5858875937568561 2.6378431110714984 0.0083435172783432 1.0 0.2505809900808559 37 Q14108,Q9NZ08,O15460,Q15056,P05067,P06280,O75844,P04062,P35250,P00403,Q9Y4P3,P20674,Q9NWM8,Q14739 14 |
| Disproportionate short stature 0.7000875815798746 2.623642520481269 0.0086995039700523 1.0 0.2505809900808559 18 Q9UHX1,Q15392,Q03164,P16278,Q9UBM7,Q14739 6 |
| Abnormal larynx physiology 0.75044719379337 2.6218871497306333 0.0087444380748844 1.0 0.2505809900808559 14 Q92804,P35637,Q15165,Q13510,Q13501 5 |
| Subcutaneous nodule 0.7343570329913282 2.610638644451055 0.0090373330864605 1.0 0.2505809900808559 15 Q9NZ08,O75874,P35637,P48735,Q13510 5 |
| Xerostomia 0.733312831652234 2.6051194456091555 0.0091842235913943 1.0 0.2505809900808559 15 Q13501,Q92804,P35637,Q15165,Q14739 5 |
| Neonatal death 0.7581451394731233 2.5926699761423264 0.0095234108146287 1.0 0.2505809900808559 13 P13804,Q16134,P04062,Q9H0R6,Q14739 5 |
| Biliary tract abnormality 0.6792140490767686 2.5926007047557476 0.0095253289653829 1.0 0.2505809900808559 20 Q14108,P04062,Q5XKP0,P09601,O43681,Q14739 6 |
| Dysphagia 0.4451662303507149 2.590012135268672 0.0095972548668101 1.0 0.2505809900808559 101 Q01105,Q9UHX1,Q9NR77,P48735,P37198,Q13501,Q14739,O75306,P07737,P05067,Q8NFF5,O75874,Q13510,Q99720,Q8N0X7,Q99519,Q14108,Q9BUF5,P61916,Q15067,O15118,P04062,P35637,Q03164,Q9Y263 25 |
| Cherry red spot of the macula 0.8509209218081859 2.5860831947642944 0.0097073496908084 1.0 0.2505809900808559 9 P17900,P10619,Q13510,P16278 4 |
| Abnormal circulating lipid concentration 0.4935342740269313 2.5830668047712337 0.0097926359083209 1.0 0.2505809900808559 63 P28070,P06280,P35250,P31751,P40939,O75880,Q15392,Q15904,Q14739,O43772,P23786,Q15738,P61916,O75844,Q16836,P16219,Q9UBM7,O75431,Q15056,Q9Y4P3,O75648,Q13642 22 |
| Cerebral palsy 0.847459755854857 2.570897394694405 0.0101435374914811 1.0 0.2505809900808559 9 P48735,O75874,Q9BVA1 3 |
| Amyotrophic lateral sclerosis 0.7078804668073777 2.5445925705766426 0.0109405308527159 1.0 0.2505809900808559 16 P07737,Q92804,P22626,P35637,Q15165,Q99720,Q13501 7 |
| Motor neuron atrophy 0.6535347285665013 2.535347214471744 0.0112335919753456 1.0 0.2505809900808559 22 P07737,Q92804,P22626,P35637,Q15165,Q13510,Q99720,Q13501 8 |
| Respiratory failure 0.4999363939079638 2.5307268265915503 0.0113826460457491 1.0 0.2505809900808559 53 Q9Y619,O75306,P61916,P07737,Q92804,P23786,P35637,Q15165,P40939,Q5XKP0,Q13510,P10253,Q13501 13 |
| Abnormal vertebral morphology 0.4571718583971839 2.462783009132606 0.0137863322815876 1.0 0.2871155335230421 86 Q9Y619,Q9UHX1,P35250,Q6NUK1,P07237,P16278,P10644,P48735,Q14739,O75874,Q99519,Q14108,Q15738,O75718,P10619,Q9Y5S9,O95831,Q9UM00,Q96J02,Q9UBM7,Q15056,P61978,P04062,O96028,P54802,Q9Y4P3 26 |
| Hallucinations 0.5642881306881664 2.451630666144161 0.0142210543577443 1.0 0.2898604766096924 36 P04062,P35637,P50897,Q9BQE5,O75503,Q6DKK2,O43681,Q13501 8 |
| Dicarboxylic aciduria 0.6464334777461377 2.443597082870979 0.0145416565800664 1.0 0.2942340218780757 21 O43772,P13804,Q16134,P23786,Q16836,P40939,P48735 7 |
| Abnormal retinal artery morphology 0.6576174461561763 2.421152595577206 0.0154713812295634 1.0 0.3081124381952941 19 P17900,Q15056,P35250,P10619,P16278,Q13510,Q99519 7 |
| Abnormal arterial physiology 0.5980634847370174 2.3651492331542814 0.0180228069388292 1.0 0.3081124381952941 26 Q9NZ08,O15460,Q15056,P05067,P06280,O75844,P35250,Q9NWM8,Q14739 9 |
| Abnormality of head blood vessel 0.6330543597572755 2.3618982980926178 0.0181816292943639 1.0 0.3081124381952941 21 P17900,Q15056,P35250,P10619,P16278,Q13510,Q99519 7 |
| Heterogeneous 0.5596142219675246 2.3538112085376226 0.0185820459884795 1.0 0.3101448656869627 34 Q9Y619,P61916,P04792,P05067,O75844,Q9NR77,Q16836,P40939,Q9BQE5 9 |
| Abnormal neuron morphology 0.5914005547219652 2.3470991051348618 0.018920221515845 1.0 0.3131952351519528 27 P07737,Q92804,P22626,P35637,Q15165,Q13510,Q99720,Q13501 8 |
| Wide anterior fontanel 0.6717104545847233 2.344240733875612 0.019065860922057 1.0 0.3131952351519528 16 P13804,Q16134,O75718,Q14738,P20674,Q9Y487 6 |
| Fatigable weakness of swallowing muscles 0.7068476749550112 2.330011129620235 0.01980556289246 1.0 0.3133437767622385 13 P35637,Q15165,Q92804,Q13501 4 |
| Fatigable weakness of respiratory muscles 0.6945841108996661 2.32924565826018 0.0198460553745523 1.0 0.3133437767622385 14 P35637,Q15165,Q92804,Q13501 4 |
| Abnormality of the ribs 0.5110376958510974 2.3199272996554665 0.0203448104814301 1.0 0.319096087799168 46 Q9Y619,Q15738,Q9UHX1,O75718,O75844,O96028,P07237,P54802,Q03164,Q9Y5S9,P16278,Q9UM00,O95831,P15586,Q9UBM7,O75431,Q14739 17 |
| Proximal tubulopathy 0.6398733665837898 2.3159043859886763 0.0205634898049626 1.0 0.321386273524205 19 Q8IUX1,O75306,P13804,Q8N183,Q16134,P00403,O43676,Q9P032,Q9Y375 9 |
| Agitation 0.5685852649763271 2.309984080273628 0.0208890355060573 1.0 0.32263121756046 31 P48449,P07737,P05067,Q92804,P04062,O43464,P35637,P09651,Q15165,P42892,Q13501 11 |
| Increased bone mineral density 0.6076574938648645 2.298154849066153 0.021552977434208 1.0 0.3287200661775935 23 Q14108,Q15056,Q13126,P04062,P35250,P18074,Q15392,Q14739,Q13501 9 |
| Retinopathy 0.6147702441536547 2.2948864641253497 0.0217396317311726 1.0 0.3304274609861741 22 Q9NZ08,O75306,O96028,P07437,P18074,P40939,Q9Y375,Q99519 8 |
| Micromelia 0.636117783005414 2.293453115267274 0.0218219316683623 1.0 0.3305424786615293 19 Q9UHX1,Q9UBM7,O75874,P48735,Q15392,Q14739 6 |
| Neurodegeneration 0.5841921178775485 2.2720992387936736 0.0230805170862242 1.0 0.3351078883232989 26 P17900,Q92804,P35637,Q15165,Q6DKK2,Q13501 6 |
| Hypoglycemic coma 0.7802391281364836 2.2701184360869036 0.0232003980282329 1.0 0.3353443152904387 9 P13804,Q16134,P31751,Q16836,P40939 5 |
| Paraparesis 0.5951449285792033 2.267655228145227 0.0233502286979998 1.0 0.3364106238803041 24 Q9Y619,P04062,P35637,Q5XKP0,Q13510,Q6DKK2 6 |
| Low frustration tolerance 0.8473586161201362 2.261248297421463 0.0237438858757426 1.0 0.3409714520402908 7 Q03164,Q9UHX1,P04062 3 |
| Fatigable weakness of bulbar muscles 0.6806917668504211 2.2547879252919545 0.0241466435512573 1.0 0.3445180787974563 14 P35637,Q15165,Q92804,Q13501 4 |
| Respiratory distress 0.5189137206106424 2.2526973747686325 0.0242782365929061 1.0 0.3452818020913956 42 Q9Y619,O75306,Q9UHX1,P13804,Q16134,P04062,P23786,P16219,O95831,Q13510,P10253 11 |
| Abnormality of corneal stroma 0.7597995291141689 2.2490752719554683 0.0245077075043025 1.0 0.3474281740113145 10 P10619,Q13510,P04062,P16278 4 |
| Bulbar signs 0.7729839062859776 2.2369814683004576 0.0252875512588226 1.0 0.352108703847973 9 P35637,Q99720,P04062,O43681 4 |
| Abnormal rib cage morphology 0.4738690639041417 2.236417491464495 0.0253244364297511 1.0 0.352108703847973 52 Q9Y619,Q15738,Q9UHX1,O75718,O75844,O96028,P07237,P54802,Q03164,Q9Y5S9,P16278,Q9UM00,O95831,P15586,Q9UBM7,O75431,Q14739 17 |
| Hypoketotic hypoglycemia 0.841211715644892 2.235355828774311 0.0253939975497496 1.0 0.352108703847973 7 Q16836,O43772,P40939,P23786 4 |
| Dyspnea 0.4386052609703875 2.204531978136187 0.0274869535813773 1.0 0.3624354088659007 82 Q9Y619,O75306,Q9UHX1,P07737,P13804,Q16134,P06280,O75844,P04062,Q92804,P23786,P35637,Q15165,O95831,Q13510,P10253,Q13501 17 |
| Lymphangioma 0.9824632952691674 2.2025343585866346 0.0276275848855775 1.0 0.3624354088659007 2 P48735 1 |
| Hemangiomatosis 0.9824632952691674 2.2025343585866346 0.0276275848855775 1.0 0.3624354088659007 2 P48735 1 |
| Visceral angiomatosis 0.9824632952691674 2.2025343585866346 0.0276275848855775 1.0 0.3624354088659007 2 P48735 1 |
| Abnormal circulating fatty acid concentration 0.6336055547930053 2.201159791508939 0.0277247136714486 1.0 0.3624354088659007 17 O43772,P23786,Q16836,P16219,P40939,O75880,O75648,O75431 8 |
| Vascular neoplasm 0.5697755703317354 2.199465603770258 0.0278448322990483 1.0 0.3624354088659007 27 P48735,P10619,Q9UHX1,O75874 4 |
| Abnormal periventricular white matter morphology 0.5529869842826768 2.1975960560932246 0.0279779045335335 1.0 0.3624354088659007 31 P17900,Q9UHX1,O96028,P18074,O75503,O43681 6 |
| Periventricular white matter hyperintensities 0.8858064083203965 2.197172161182038 0.028008153009112 1.0 0.3624354088659007 6 O75503,P17900 2 |
| Dementia 0.47886248689803 2.1928562107117218 0.0283177405266767 1.0 0.3630416415927289 50 Q14108,P17900,P61916,P05067,P04062,P22626,P35637,P00403,Q9Y487,Q13510,P31483,O43681,Q13501 13 |
| Biliary cirrhosis 0.9069623936817937 2.188204587834814 0.0286547030779265 1.0 0.3660074014633573 5 P09601 1 |
| Paralysis 0.5143767028831511 2.1864399915577324 0.0287834304719658 1.0 0.3660074014633573 41 P17900,P04792,Q92804,P04062,P35637,Q15165,Q9NR77,P10253,Q13501 9 |
| Abnormal pericardium morphology 0.745804756428922 2.1833223556221477 0.029012079359548 1.0 0.3676053198430273 10 Q9NZ08,O15460,Q14108 3 |
| Arthritis 0.5367497316630174 2.1822745695780696 0.029089274688008 1.0 0.3676053198430273 34 Q14108,Q9NZ08,P28070,O15460,O75844,P04062,Q13510,Q14739 8 |
| Abnormal larynx morphology 0.6037164477592626 2.1798500502101623 0.0292685785200585 1.0 0.3688174438581743 21 Q9UHX1,Q14739 2 |
| Mucosal telangiectasiae 0.8250996183238081 2.1671160140416603 0.0302260091447108 1.0 0.3758464407645656 7 P06280,P10619,Q14739 3 |
| Generalized muscle weakness 0.5601592642571969 2.1593064361878853 0.0308264011504886 1.0 0.3808524365603665 28 Q92804,P35637,Q15165,O95831,P40939,P10253,Q13501 7 |
| Hypothermia 0.8228147596113519 2.1573954763251613 0.0309748634008442 1.0 0.3816206708131864 7 O43772 1 |
| Arteriosclerosis 0.6618809701008339 2.1528832190186837 0.0313278576459672 1.0 0.3830660931651893 14 P61916,O75844,P16278,Q13510,Q99519 5 |
| Abnormality of glycolipid metabolism 0.8739574673996872 2.1495757061176217 0.0315887917752348 1.0 0.3830660931651893 6 P17900,O43681 2 |
| Schizophrenia 0.6612209342868207 2.149284808752692 0.0316118299808487 1.0 0.3830660931651893 14 P04062,Q9BQE5 2 |
| Abnormal circulating acetylcarnitine concentration 0.8178002061178566 2.1360241727877 0.032677443565209 1.0 0.3910590507854113 7 Q16836,O43772,P40939,P23786 4 |
| Cognitive impairment 0.421989861091932 2.1342579710446365 0.032821669638712 1.0 0.3910590507854113 135 Q9Y619,P21964,P06280,P09651,P50897,P16278,Q9BQE5,P10644,P31483,Q13501,O75306,P05067,O43464,Q969G3,O75503,Q13510,Q99720,Q8N0X7,Q14108,P61916,Q9BVA1,P18074,P00403,O95831,Q6DKK2,Q9NZ08,P17900,O15118,O95140,P04062,P35270,P22626,P35637,Q03164,Q9Y263,P54802,Q5XKP0,Q9Y487,O43681 39 |
| Metaphyseal cupping 0.9657422512234894 2.1333416622762535 0.0328967088905243 1.0 0.3910590507854113 2 Q14739 1 |
| Prominent sternum 0.965742251223489 2.133341662276251 0.0328967088905245 1.0 0.3910590507854113 2 P16278 1 |
| Tissue ischemia 0.6092886553252792 2.1312668041406524 0.0330671682102066 1.0 0.3910590507854113 19 Q9NZ08,O15460,Q15056,P05067,P06280,O75844,P35250 7 |
| Abnormal form of the vertebral bodies 0.4446027501718866 2.129132471434066 0.0332433019158249 1.0 0.3916557768844699 68 Q9Y619,Q9UHX1,P35250,Q6NUK1,P07237,P16278,P10644,P48735,Q14739,O75874,Q99519,Q9UM00,O95831,Q96J02,Q9UBM7,Q15056,O96028,P54802,Q9Y4P3 19 |
| Polyneuropathy 0.6567169845454137 2.124688738154366 0.0336125937895654 1.0 0.3916557768844699 14 O95721,P31930,Q15041,O95831,Q15120 5 |
| Ectrodactyly 0.7121013349299659 2.124253820275105 0.0336489249866829 1.0 0.3916557768844699 11 P48449,P04792,Q99720,Q9NR77,Q9UBM7 5 |
| Abnormality of the vasculature of the eye 0.4454689505853937 2.1093771883353565 0.034912036916578 1.0 0.4012913579631918 64 Q9NZ08,Q99519,P28070,O75306,P17900,Q15056,P06280,P35250,P18074,P10619,Q15555,P16278,Q13510,Q8WYQ5,Q14739 15 |
| Elevated pulmonary artery pressure 0.6647869728837342 2.1081139808312925 0.035021131398099 1.0 0.4012913579631918 13 Q14108,P04062,O75844,P00403,P20674 5 |
| Increased cerebral lipofuscin 0.9168135223734118 2.0993942280951243 0.0357821630846146 1.0 0.4078982147506462 4 P50897 1 |
| Abnormality of the biliary system 0.419727224552241 2.0981924350748296 0.0358881496168952 1.0 0.4080547191658807 90 Q14108,P61916,P13804,Q15056,Q16134,P04062,O96028,P35250,P00374,Q9Y4P3,P40939,P09601,Q5XKP0,Q13510,Q9UBM7,Q15904,O43681,Q14739 18 |
| Abnormal lower motor neuron morphology 0.7575743354505154 2.0970049159438817 0.0359931401716537 1.0 0.4081991255877555 8 P35637,Q13510,Q13501 3 |
| Abnormal delivery 0.609573877132696 2.0948683558655468 0.0361826965471896 1.0 0.4082552725209688 18 Q9Y619,Q9Y487,Q9UBM7,O75844 4 |
| Mortality aging 0.4268718339684829 2.086052135099072 0.0369739007680314 1.0 0.4150648809568603 83 O95721,P35250,Q6NUK1,P16278,Q15904,Q14739,P05067,Q16134,O43464,Q15738,P13804,O75718,O75844,P18074,Q9Y5S9,P20674,Q15067,Q00059,Q15056,P04062,Q9Y4P3,Q9H0R6 22 |
| Restlessness 0.518591557976111 2.0809263235391335 0.0374406502931985 1.0 0.4181818087040837 35 P48449,P07737,P05067,Q92804,P04062,O43464,P35637,P09651,Q15165,P42892,Q13501 11 |
| Abnormality of pancreas physiology 0.527957495146612 2.079533800192038 0.0375683144574334 1.0 0.4185350842608633 33 Q9NZ08,Q9UHX1,P09601,Q15904,Q14739 5 |
| Rhizomelia 0.7230031965831489 2.075080067244321 0.0379791147651247 1.0 0.4199540615153666 10 Q03164,Q9UBM7,Q15392,Q14739 4 |
| Abnormality of femur morphology 0.4781754166915831 2.0678176134175095 0.03865717679541 1.0 0.4252206202350305 47 Q9Y619,Q9UHX1,O75844,P04062,P16278,O95831,Q9Y487,Q14739 8 |
| Psychomotor deterioration 0.7504362987032481 2.0645008375096983 0.0389702545732819 1.0 0.4252206202350305 8 Q03164,P50897 2 |
| Toe walking 0.6223981031279684 2.06291102956675 0.0391210820126679 1.0 0.4252206202350305 16 P35637,O95831,P40939,O43681 4 |
| Emg chronic denervation signs 0.7203234574865742 2.062268645085812 0.0391821664599936 1.0 0.4252206202350305 10 O95140,P04792,P22626,Q13510,O43681 5 |
| Clumsiness 0.6100656245564204 2.0619358503165697 0.0392138438068043 1.0 0.4252206202350305 17 Q9NR77,Q15067,O75503,Q13510,O43681,Q13501 6 |
| Abnormal epidermal morphology 0.6218642865561296 2.05981325832023 0.0394163965986922 1.0 0.4252206202350305 16 Q06136 1 |
| Atrioventricular canal defect 0.9061731440042218 2.057363497056574 0.0396512736656613 1.0 0.4252206202350305 4 Q9UHX1 1 |
| Cerebral inclusion bodies 0.6761005732061238 2.051379711860586 0.0402299832266546 1.0 0.4252206202350305 12 P61916,O15118,P05067,P04062,P22626,P31483 6 |
| Abnormal tissue metabolite concentration 0.7178277823441251 2.050320169169294 0.0403331976628389 1.0 0.4252206202350305 10 P17900,O43681 2 |
| Abnormal circulating fatty acid anion concentration 0.6431353946862987 2.0500839868583185 0.0403562357402209 1.0 0.4252206202350305 14 O43772,P23786,Q16836,P16219,P40939,O75880,O75648 7 |
| Abnormal cranial nerve physiology 0.4588539143829672 2.048611388355003 0.040500130151083 1.0 0.4252206202350305 51 Q9NZ08,Q9BUF5,Q9UHX1,O75874,Q9NR77,P48735,Q13510,Q13501 8 |
| Angiokeratoma 0.9441272430668805 2.043336950956805 0.041019094135857 1.0 0.4252206202350305 2 P16278 1 |
| Muscle spasm 0.4670462996246208 2.042410586577211 0.0411108204960342 1.0 0.4252206202350305 49 P04792,P07737,P06280,Q92804,P04062,P35637,Q15165,Q9NR77,P40939,Q13501 10 |
| Abnormality of the upper respiratory tract 0.4277059321396104 2.038758224123083 0.0414741635837787 1.0 0.4252206202350305 78 Q13501,O15460,Q9UHX1,P28070,Q92804,P35637,Q15165,P16278,Q13510,Q9UBM7,Q14739 11 |
| Platyspondyly 0.5530930336962709 2.0372276967714176 0.0416272295424648 1.0 0.4252206202350305 25 P48735,O75874,P16278,Q14739 4 |
| Congestive heart failure 0.4423318859625235 2.030363470562397 0.0423196069288969 1.0 0.4252206202350305 55 O75306,Q15056,O95721,P06280,P07437,P35250,P22626,P00403,Q15555,P16278,P40939,P10253,Q9Y375,Q70HW3 14 |
| Neonatal hypoglycemia 0.74179937407224 2.025010258677093 0.0428663108423945 1.0 0.4252206202350305 8 Q16836,O43772,P40939 3 |
| Increased c peptide level 0.9396411092985296 2.0245803127813957 0.04291047749655 1.0 0.4252206202350305 2 Q16836 1 |
| Abnormality of extrapyramidal motor function 0.4385755268740102 2.020471083828352 0.0433345465945336 1.0 0.4259304435280493 61 P17900,Q15056,P05067,P31930,P04062,P35270,P35250,P18074,P35637,P16278,O14949,Q99720,Q6DKK2,Q13501 14 |
| Patchy changes of bone mineral density 0.8959790395175393 2.0169364813913813 0.0437021423612513 1.0 0.4281072643997573 4 Q13126,Q14739 2 |
| Fractures of the long bones 0.9355628058727544 2.0075066986574477 0.044695738093424 1.0 0.430725210502453 2 Q13126 1 |
| Aplasia hypoplasia involving the vertebral column 0.6675982954103714 2.007327698822709 0.0447147817037452 1.0 0.430725210502453 12 P16278,Q14739 2 |
| Disproportionate short limb short stature 0.635357010820683 2.0070623242503904 0.0447430272292965 1.0 0.430725210502453 14 Q03164,Q9UBM7,Q15392,Q14739 4 |
| Short palpebral fissure 0.5479950255194532 2.002219134011353 0.0452611686894099 1.0 0.4317224888347334 25 Q9Y619,Q9UHX1,O75844,P07437,Q6NUK1,Q03164,Q15555 7 |
| Loss of speech 0.6113323187520373 1.9984660829884024 0.0456661534861255 1.0 0.432709477831443 16 P17900,P50897,O43681,Q13501 4 |
| Abnormal cartilage morphology 0.7215481940291222 1.9982700559190816 0.0456873900400822 1.0 0.432709477831443 9 P48735,Q9UHX1 2 |
| Abnormality of the metaphysis 0.5073749360284784 1.9932450566176596 0.0462346195359082 1.0 0.4369566713831669 35 Q13126,O75874,P16278,O95831,P48735,Q14739 6 |
| Ventricular tachycardia 0.719239819499971 1.987402124703448 0.0468778524262742 1.0 0.437906123610236 9 O43772,P23786 2 |
| Cardiac conduction abnormality 0.5855567874132164 1.985155853294268 0.0471271342614678 1.0 0.437906123610236 19 O75306,O43772,P06280,P23786,P00403,P04899 6 |
| High frequency sensorineural hearing impairment 0.887276325978263 1.982302519922 0.0474453921722524 1.0 0.4386291186065856 4 Q13510,O75844 2 |
| Hepatic necrosis 0.7176790457449048 1.9800464685970007 0.0476983074196624 1.0 0.4386291186065856 9 Q16134,Q16836,P40939 3 |
| Abnormality of pulmonary circulation 0.6080068661003505 1.9790051724720876 0.0478154239040131 1.0 0.4386291186065856 16 Q9NZ08,Q14108,P04062,O75844,P00403,P20674 6 |
| Proportionate short stature 0.522460017868001 1.9733272999414968 0.0484582845270777 1.0 0.4386291186065856 31 Q9Y619,P10619,Q16836,P16278,P40939,Q14739 6 |
| Limb undergrowth 0.4909814752338017 1.966913468334172 0.0491931875494435 1.0 0.4402771959607627 40 Q9UHX1,Q9UBM7,O75874,Q03164,P48735,Q15392,Q14739 7 |
| Glutaric aciduria 0.8511305486422189 1.963771209034229 0.0495566303450059 1.0 0.440454890906816 5 Q16134 1 |
| Hypoplastic vertebral bodies 0.8507019427189222 1.9620286219853524 0.0497591520501856 1.0 0.440454890906816 5 P16278 1 |
| Zonular cataract 0.7280433082985869 1.9617515338392084 0.049791418822837 1.0 0.440454890906816 8 Q8WWV3 1 |
| Retrocollis 0.9241435562805848 1.959590998654675 0.0500436143111402 1.0 0.4410358606704648 2 P35637 1 |
| Central scotoma 0.776699839387449 1.95892167466358 0.0501219602581752 1.0 0.4410358606704648 7 O75306,Q9H061,Q8WWV3 3 |
| Orthostatic hypotension due to autonomic dysfunction 0.7760543465108685 1.9561129798042187 0.0504518464515928 1.0 0.4410358606704648 7 P04062 1 |
| Vacuolated lymphocytes 0.922512234910272 1.9527329914908496 0.0508512422563549 1.0 0.4427461505902716 2 P16278 1 |
| Reduced consciousness confusion 0.3960373752632912 1.9402744846644553 0.0523463405473543 1.0 0.4513213727893726 98 Q9Y619,P40939,Q9Y375,O75306,O43772,P05067,Q16134,P23786,P13804,P18074,P00403,Q16836,P16219,O43676,Q9UBM7,Q9NZ08,P04062,P35270,O43681 19 |
| Decreased plasma carnitine 0.6543697462034291 1.938345483042027 0.0525810868394067 1.0 0.4523833895027859 12 O43772,P23786,Q16836,P40939,O75880,O75648 6 |
| Skin ulcer 0.5386359479312645 1.9375833315493871 0.052674077683458 1.0 0.4523833895027859 25 P48735,O15460,O75874,Q14739 4 |
| Prenatal maternal abnormality 0.6940662014610841 1.9357389803199871 0.0528996777192372 1.0 0.4528129883698199 10 O43772,Q14739 2 |
| Hepatomegaly 0.4075766723795559 1.9319502423109691 0.0533656476282631 1.0 0.4538771108507285 138 Q9Y619,Q9UJS0,P28070,P08236,Q658P3,Q6NUQ1,Q01844,P31751,P16278,P09601,P40939,O75880,P15586,Q15904,Q9Y375,Q14739,O75306,O43772,Q16134,P23786,Q13510,Q9Y3E5,Q99519,Q14108,Q8IUX1,P61916,P13804,O75340,Q96EY8,Q9HC21,P00374,P20674,O43676,Q15067,Q96J02,O75431,O15118,O95140,Q9NPL8,P04062,P54802,Q9P032,Q07021,O75648,P10253,Q8N183 46 |
| Abnormal umbilicus morphology 0.4773450689947044 1.9309319335137385 0.0534914704720064 1.0 0.4538771108507285 43 Q99519,Q15056,O75844,P07437,P35250,Q6NUK1,P18074,Q15555,Q9Y4P3,Q9NWM8,Q9Y487,Q8WYQ5,Q14739 13 |
| Abnormal heart valve morphology 0.4316940159061097 1.9309225971652615 0.0534926252219434 1.0 0.4538771108507285 57 Q9UHX1,P21964,Q8NCH0,P06280,P35250,Q6NUK1,P16278,P10644,Q6ZXV5,O75844,Q13363,P37268,O75431,Q15056,P61978,O96028,P04062,Q14738,Q9Y4P3,Q06787 20 |
| Abnormal conjunctiva morphology 0.5509546743493902 1.9269172346177357 0.053989945292626 1.0 0.4565918317959558 23 Q9NZ08,P28070,P06280,P10619,Q13510,Q14739 6 |
| Abnormality of the anterior fontanelle 0.5360413408134169 1.9195806417767216 0.054910891183677 1.0 0.4613542476073444 25 Q9Y619,P13804,Q16134,O75718,Q14738,P20674,Q9Y487 7 |
| Elevated circulating glutaric acid concentration 0.8710602398916452 1.91747573354264 0.0551775209597575 1.0 0.4613542476073444 4 Q16134 1 |
| Hyporeflexia of upper limbs 0.9131321370309948 1.9132387092488412 0.0557175000867329 1.0 0.4623611686371853 2 Q9NR77 1 |
| Toxemia of pregnancy 0.837323470052084 1.9074898090246573 0.0564571894692671 1.0 0.4673010266724022 5 Q14739 1 |
| Abnormality of salivation 0.4917134475654423 1.906326585434643 0.0566078470744106 1.0 0.4673010266724022 37 Q9BVA1,Q92804,P35637,Q15165,Q9NR77,Q14739,Q13501 7 |
| Rimmed vacuoles 0.6271689698585317 1.9046086897298495 0.0568309561779334 1.0 0.4680881176443195 13 P22626,O14979,Q13642,P31483,Q13501 5 |
| Abnormal middle phalanx morphology of the hand 0.7636716035977718 1.9020725859342087 0.0571616658285687 1.0 0.4690650240440808 7 Q9UHX1 1 |
| Pedal edema 0.835443037974678 1.8998015887282576 0.057459162374851 1.0 0.4697631703955012 5 Q14108,Q9Y5S9,P04062,Q9Y263 4 |
| Epiphyseal stippling 0.6841744408873965 1.8876070611175824 0.0590787214404975 1.0 0.4793610897021733 10 Q15738,P10644,O00116,Q9UBM7,Q14739,Q99519 6 |
| Generalized hirsutism 0.5639172099545401 1.886890691478875 0.0591750293867028 1.0 0.4793610897021733 20 Q06136,P07437,Q03164,Q15555,Q9BW83 5 |
| Macrovesicular hepatic steatosis 0.8082843748726766 1.881269070049501 0.0599353262131128 1.0 0.4816956679827865 6 O75648,Q5XKP0,Q9Y375,P23786 4 |
| Abnormality of exocrine pancreas physiology 0.5913896353015082 1.8811106089263223 0.0599568741554223 1.0 0.4816956679827865 16 Q9UHX1,P09601 2 |
| Blepharophimosis 0.4799869407527296 1.8750446651201964 0.0607865790932624 1.0 0.4816956679827865 40 Q9Y619,Q15056,P38159,O75844,P07437,P35250,Q03164,Q15555,O60701,Q9Y4P3,O75648,Q8WYQ5 12 |
| Metaphyseal widening 0.6114923556740391 1.873738933251058 0.0609664169230721 1.0 0.4816956679827865 14 P16278,Q14739 2 |
| Aortic valve stenosis 0.8290403305479347 1.8735830150956048 0.0609879208840968 1.0 0.4816956679827865 5 O75844,P16278 2 |
| Abnormally lax or hyperextensible skin 0.496509973274193 1.871991237683587 0.0612078157702 1.0 0.4825707115001691 34 Q9UHX1,Q15056,P04062,P07437,P35250,Q15555,Q9Y4P3,Q9NWM8,Q9Y487,Q15904 10 |
| Abnormality of the tarsal bones 0.5487958052075903 1.8690208955837615 0.0616199073079184 1.0 0.4826879968086534 22 Q9UHX1,O75844,P40939,Q14739 4 |
| Exaggerated startle response 0.7080097968614653 1.8688403258163784 0.0616450326017958 1.0 0.4826879968086534 8 P16278 1 |
| Hypergonadotropic hypogonadism 0.6803106918531555 1.8687384103963305 0.0616592173178587 1.0 0.4826879968086534 10 Q16740,P48449 2 |
| Upper limb asymmetry 0.9017128874388192 1.865023761841688 0.0621780736002808 1.0 0.4850328386843776 2 P07437 1 |
| Fasciculations 0.5217632983934054 1.8623119447079235 0.0625591327797541 1.0 0.4864197848947698 27 P07737,P04792,Q96GM8,P06280,P35637,O95831,Q13510,Q13501 8 |
| Chronic diarrhea 0.6396201858081095 1.86080239436694 0.0627720872592842 1.0 0.4864197848947698 12 P18074,Q13510,Q15904,Q14738 4 |
| Bone pain 0.5710310640407946 1.8591377827907885 0.0630076109848101 1.0 0.4867100049961553 18 Q14108,P48735,P04062,O75874 4 |
| Dysostosis multiplex 0.7535033373412747 1.8574715047249597 0.0632441016110323 1.0 0.4867100049961553 7 P54802,P10619,P16278,P15586,Q99519 5 |
| Abnormality of skull ossification 0.6386577957785555 1.8557199727188989 0.0634934824514541 1.0 0.4867100049961553 12 O75718,O75844,Q9HC21,Q6NUK1,P54802,Q14739 6 |
| Confusion 0.6078870607536577 1.8534245359014427 0.0638215332593385 1.0 0.4875995598093373 14 Q9Y619,Q9NZ08,P05067,Q16836,P40939 5 |
| Mitochondrial inheritance 0.898858075040784 1.852947783970273 0.0638898432132393 1.0 0.4875995598093373 2 P00403 1 |
| Abnormal arachnoid mater morphology 0.8007860966937578 1.850163940211744 0.0642899245126162 1.0 0.4888201383221885 6 Q9UHX1,Q15904 2 |
| Abnormal c peptide level 0.8538382882521476 1.8482242791327388 0.06456990450204 1.0 0.4892599696549959 4 Q16836 1 |
| Abnormal placenta morphology 0.7494494652425755 1.8396342383645583 0.0658219541825102 1.0 0.4941403452457162 7 P16278 1 |
| Abnormal csf protein level 0.687347561317304 1.835917729963703 0.0663698250611153 1.0 0.4959206406807529 9 Q9NR77,O15382,O43681 3 |
| Hyperintensity of cerebral white matter on mri 0.6047779563167184 1.8358699167402392 0.0663768978709034 1.0 0.4959206406807529 14 O75503,P17900,P10253 3 |
| Ethylmalonic aciduria 0.8185021451624085 1.8302944579228897 0.0672059196643442 1.0 0.4979698728045716 5 Q16134,P13804 2 |
| Respiratory arrest 0.8485353783258403 1.8268197685248715 0.0677268725673245 1.0 0.4985194193199805 4 O43772 1 |
| Osteoarthritis 0.6854027160336825 1.82660065104132 0.0677598354314183 1.0 0.4985194193199805 9 Q14108,O75844 2 |
| Abnormal circulating free fatty acid concentration 0.8482536413992724 1.825681532637244 0.0678982465034301 1.0 0.4985194193199805 4 Q16836,P40939 2 |
| Abnormality of the mitochondrion 0.4092055547958089 1.823182811145498 0.0682757075422566 1.0 0.4985194193199805 77 O75306,O43772,P13804,Q70HW3,Q16134,P23786,P35637,P00403,Q16836,P20674,P40939,O43676,O75648,Q9H0R6,Q9Y375,Q13501 16 |
| Aplasia hypoplasia of toe 0.5159956624447217 1.8209391039758072 0.0686161141576822 1.0 0.4985194193199805 27 Q9UHX1,O96028,Q13363,O96019,Q03164,P10644,O75648,Q13510,Q9UBM7 9 |
| Abnormal morphology of the conjunctival vasculature 0.8158843363677554 1.81951535490425 0.0688328423767725 1.0 0.4985194193199805 5 P06280,P10619 2 |
| Avascular necrosis 0.5646366411870037 1.8194178871357465 0.0688476998204836 1.0 0.4985194193199805 18 Q9NZ08,Q14108,P04062,O75844 4 |
| Abnormal glial cell morphology 0.461175291386567 1.8182539564450388 0.0690253266355509 1.0 0.4985194193199805 44 O75306,Q16134,O75874,P04062,P35637,O95831,P48735,Q13501 8 |
| Abnormal light and dark adapted electroretinogram 0.7927306482905089 1.8166445241252849 0.0692715612564243 1.0 0.4985194193199805 6 Q15555,P50897,Q15067 3 |
| Abnormal full field electroretinogram 0.7927306482905089 1.8166445241252849 0.0692715612564243 1.0 0.4985194193199805 6 Q15555,P50897,Q15067 3 |
| Progressive psychomotor deterioration 0.7440696418454553 1.8159142354063869 0.0693835292733162 1.0 0.4985194193199805 7 P16278 1 |
| Crumpled long bones 0.8898858075040799 1.8149393304687913 0.0695332334965752 1.0 0.4985194193199805 2 O75718 1 |
| Capillary hemangioma 0.8147268044804271 1.8147458747676848 0.069562971635658 1.0 0.4985194193199805 5 Q9UHX1 1 |
| Thin ribs 0.6500481213518126 1.812908012229807 0.0698460102657201 1.0 0.4985194193199805 11 O75844,O95831 2 |
| Parathyroid adenoma 0.8135751394726727 1.809998617737022 0.0702960015238607 1.0 0.4985194193199805 5 P48735 1 |
| Abnormality of the parathyroid morphology 0.8135751394726727 1.809998617737022 0.0702960015238607 1.0 0.4985194193199805 5 P48735 1 |
| Neoplasm of the parathyroid gland 0.8135751394726727 1.809998617737022 0.0702960015238607 1.0 0.4985194193199805 5 P48735 1 |
| Ventricular hypertrophy 0.4964719600823699 1.8071236666871255 0.0707429993153359 1.0 0.4985194193199805 32 O43772,P06280,P10253,O75844,P23786,Q6NUK1,P00403,P78536,P40939,O75880,Q07021,Q13642,P12235,Q15233,O75431 15 |
| Pulmonary hypoplasia 0.5569295653091043 1.805604269607388 0.0709801752839898 1.0 0.4985194193199805 19 P13804,Q16134,O75844,Q6NUK1,Q9UBM7,Q14739 6 |
| Osteolysis 0.5453360824350338 1.8055732065699357 0.0709850309773632 1.0 0.4985194193199805 21 Q14108,O75874,O75844,P04062,P48735,Q13501 6 |
| Heart block 0.5886122333188015 1.801772117891257 0.0715812662051289 1.0 0.4985194193199805 15 P04899,P06280,O43772,P23786 4 |
| Raynaud phenomenon 0.7887086576831632 1.7998693322597958 0.0718812731299303 1.0 0.4985194193199805 6 Q14739 1 |
| Weakness of long finger extensor muscles 0.8849918433931445 1.7941732835608517 0.0727855149939011 1.0 0.4985194193199805 2 Q13501 1 |
| Abnormal atrioventricular valve physiology 0.4793423862671304 1.7872820905595952 0.0738919071467474 1.0 0.4988694486879638 36 Q9NZ08,O75306,Q15056,P06280,O75844,P04062,P35250,Q6NUK1,Q9Y4P3,P40939,Q13642,Q15904,O75431 13 |
| Reduced visual acuity 0.3886869210245376 1.7861376001379614 0.0740769814718287 1.0 0.4988694486879638 94 Q9NZ08,P17900,Q9UHX1,Q8WWV3,P50897,Q9H061,P16278,O43676,Q9Y375,O43681,P68371 11 |
| Abnormal sternum morphology 0.3992326889613404 1.781593545441326 0.0748155377693622 1.0 0.4988694486879638 84 Q9Y619,Q99519,Q9UHX1,Q15056,O75718,P04062,O96028,P07437,P35250,Q03164,Q15555,P16278,O95831,Q9Y487,Q13510,Q14739 16 |
| Sclerocornea 0.7361245160734012 1.780783778392085 0.0749477804593239 1.0 0.4988694486879638 7 Q6NUK1,Q9UBM7,O96028 3 |
| Insidious onset 0.8369323199198807 1.77985738362824 0.0750993036207554 1.0 0.4988694486879638 4 P04062 1 |
| Pelvic kidney 0.6888552375408639 1.7791554598651411 0.0752142783016363 1.0 0.4988694486879638 8 P35250,Q9UHX1,Q15056 3 |
| Abnormal cornea morphology 0.3837974464347758 1.774204882767202 0.0760292668550457 1.0 0.4988694486879638 116 Q06136,P06280,P35250,P16278,Q14739,P07437,Q9NWM8,Q13510,Q8WYQ5,Q99519,O75844,P18074,P10619,Q9UBM7,Q96EK5,Q9NZ08,Q15056,P04062,O96028,Q14738,Q15555,Q9Y4P3,O75648 23 |
| Variable expressivity 0.4156948716361478 1.7741022396743604 0.0760462404020176 1.0 0.4988694486879638 59 P17900,Q9BUF5,Q9BVA1,P35270,P00374,Q9NR77,P00403,Q9H061,Q13510,Q9Y375 10 |
| Abnormality of the gastric mucosa 0.5837809630183537 1.7736173709295882 0.0761264623857691 1.0 0.4988694486879638 15 Q15056,P04062,Q14739,P35250 4 |
| Joint stiffness 0.4382981501726024 1.77279667193323 0.0762624050960201 1.0 0.4988694486879638 49 O15460,Q15056,O95140,O75844,O75874,P35250,P18074,P54802,Q9Y4P3,P16278,P48735,P51648,Q13642,O75431 14 |
| Exostoses 0.9513492872510284 1.7701161158999756 0.0767077993868983 1.0 0.4988694486879638 3 P48735 1 |
| Hyperinsulinemic hypoglycemia 0.781408765577422 1.7693565832019096 0.0768343862450615 1.0 0.4988694486879638 6 Q16836 1 |
| Postural tremor 0.5924128166624882 1.7657264172653486 0.0774417585618323 1.0 0.500204679512505 14 Q14108,Q9NR77,P35637 3 |
| Ragged red muscle fibers 0.6213500248979301 1.7638467820381425 0.0777577787494419 1.0 0.5013449787300022 12 P00403,O95831,Q9H2D1,O75648,Q70HW3 5 |
| Dilated cardiomyopathy 0.4971742548367707 1.7558603835492723 0.0791122508841437 1.0 0.5026350838666592 30 O75306,P23786,Q16836,P16278,P40939 5 |
| Decerebrate rigidity 0.946470433237478 1.751417981810341 0.0798739378030344 1.0 0.5026350838666592 3 P16278 1 |
| Pain 0.3954354385681197 1.7493868224844442 0.0802241771337854 1.0 0.5026350838666592 142 P28070,P21964,P06280,Q92804,P35250,Q01844,P09651,Q9NR77,Q13423,P40939,P48735,P42892,Q13501,Q14739,P07737,O75874,Q8NFH4,P23786,Q02978,Q15165,Q969G3,Q13510,Q14108,O75844,P18074,Q70HW3,Q9NZ08,O15460,Q15056,O95140,P04062,P22626,P35637,Q9Y4P3,Q13642 35 |
| Abnormal oral physiology 0.4394553969360523 1.747829812837015 0.0804935012908274 1.0 0.5026350838666592 48 Q13501,O15460,P07737,Q9BVA1,Q92804,Q14738,P35637,P09651,Q9NR77,Q15165,P10644,Q8N0X7,Q14739 13 |
| Dysdiadochokinesis 0.5982826114285188 1.7451586087624136 0.0809572639248543 1.0 0.5026350838666592 13 O75503,Q6DKK2,Q13501 3 |
| Impaired temperature sensation 0.7978187387453352 1.744857700818249 0.081009641906717 1.0 0.5026350838666592 5 Q9NR77,P04792 2 |
| Hydrops fetalis 0.4761262461250868 1.744457675242577 0.0810793155374534 1.0 0.5026350838666592 35 P04062,P10619,P16278,P40939,Q13510,Q14739,Q99519 7 |
| Abnormal aortic valve physiology 0.4919750356147694 1.743651675722443 0.0812198465921507 1.0 0.5026350838666592 31 Q9NZ08,Q9UHX1,Q15056,O75844,P04062,P35250,Q9Y4P3,P16278 8 |
| Morphological abnormality of the pyramidal tract 0.5471265770995732 1.7433018820269823 0.0812808967971028 1.0 0.5026350838666592 19 Q9Y619,Q15056,P35250,P35637,O95831,Q13501 6 |
| Chondrosarcoma 0.9436964504283984 1.7407777687480728 0.0817225402611949 1.0 0.5026350838666592 3 P48735,O75874 2 |
| Cardiac arrest 0.5072315550732837 1.7366796514532123 0.0824437314330255 1.0 0.50365832061916 26 O15460,O43772,Q15056,P04062,P35250,Q9Y4P3,P04899 7 |
| Unusual infection by anatomical site 0.6662398048569169 1.7343248806981162 0.0828604552580281 1.0 0.5055059222155286 9 Q9NZ08,Q14739 2 |
| Abnormal epiphyseal ossification 0.5957415172963839 1.731003534488907 0.0834511340697534 1.0 0.5059397126164724 13 Q15738,Q9UG56,P10644,O00116,Q9UBM7,Q14739,Q99519 7 |
| Disproportionate short trunk short stature 0.8246058139530235 1.729781167504277 0.0836693803905259 1.0 0.5059397126164724 4 Q9UHX1 1 |
| Abnormal enchondral ossification 0.5332372973434806 1.7260216083117268 0.0843435253809332 1.0 0.5059397126164724 21 Q9Y619,Q15738,Q9UG56,O96028,P10644,O00116,Q9UBM7,Q14739,Q99519 9 |
| Pericardial effusion 0.7926354590465714 1.723352564618448 0.0848247874578913 1.0 0.5059397126164724 5 Q14108 1 |
| Abnormal renal tubule morphology 0.5748980294172703 1.721634113949198 0.0851358194040337 1.0 0.5059397126164724 15 O75306,Q15056,P06280,P23786,P35250 5 |
| Vertebral hypoplasia 0.6632016469716129 1.719617705401587 0.0855019556351164 1.0 0.5059397126164724 9 P16278 1 |
| Postural instability 0.5744224397759595 1.7188430925095566 0.0856429465597936 1.0 0.5059397126164724 15 O75503,P41440,Q9NR77,P04062 4 |
| Abnormality of the parathyroid gland 0.5742837966775846 1.7180293093881505 0.0857912693787823 1.0 0.5059397126164724 15 P21964,O75874,P00403,P40939,P48735,Q8WYQ5 6 |
| Abnormal social behavior 0.4245691465899513 1.716844264931917 0.0860076306951549 1.0 0.5063683793671286 51 O75306,Q9UHX1,Q15056,P05067,P35250,P18074,O43676,Q15067,Q5XKP0,O43681,Q9Y375 11 |
| Vertebral segmentation defect 0.5133539736973926 1.7148406526456974 0.0863744459301458 1.0 0.5073495011275367 24 Q9Y619,Q9UHX1,Q15056,O96028,P35250,Q9Y5S9,Q9Y4P3,Q9UM00 8 |
| Neoplasm of the adrenal cortex 0.8198371553338988 1.71035931461772 0.0871994496214472 1.0 0.5105310251040542 4 P48735 1 |
| Thickened skin 0.3962214995923642 1.704417988598646 0.0883030256084926 1.0 0.5137719479654954 80 Q15738,Q99519,P28070,P48449,Q06136,O95721,P06280,O75844,P04062,P07437,P18074,P31751,Q15555,P16278,Q9NWM8,P51648,O75431,Q14739 18 |
| Vascular skin abnormality 0.3807989792679574 1.7035050060992714 0.0884736019646863 1.0 0.5137719479654954 95 Q14108,Q99519,O75306,Q06136,Q13126,P06280,O75844,P04062,P18074,P10619,P16278,Q9NWM8,Q9Y487,Q9UBM7,Q14739 15 |
| Short middle phalanx of finger 0.9336414579204482 1.702157281536016 0.088725888321671 1.0 0.5137719479654954 3 Q9UHX1 1 |
| Stenosis of the external auditory canal 0.7647645086766282 1.6994762797133105 0.0892294801984281 1.0 0.5137719479654954 6 P55011,P16435,O96028,Q13363 4 |
| Tinnitus 0.6092692309799502 1.699201511132613 0.0892812217689904 1.0 0.5137719479654954 12 Q9NR28,Q02978,Q9NR77,O95831,Q969G3 5 |
| Joint subluxation 0.7863941263031555 1.6974093214322856 0.0896193014815076 1.0 0.5137719479654954 5 Q9UHX1 1 |
| Lateral clavicle hook 0.8621533442088027 1.6969745367844895 0.0897014746873567 1.0 0.5137719479654954 2 Q9Y619 1 |
| Fasting hyperinsulinemia 0.8156786329408277 1.693400764497751 0.0903792094723592 1.0 0.5137719479654954 4 Q16836 1 |
| Venous thrombosis 0.5886566718619539 1.6914307948647516 0.0907545549103914 1.0 0.5137719479654954 13 P48735,O75874 2 |
| Recurrent aspiration pneumonia 0.7628244785515246 1.6913039487165464 0.0907787662663128 1.0 0.5137719479654954 6 Q13510,P04062 2 |
| Hemivertebrae 0.656092197070032 1.6851214280058633 0.0919651462302353 1.0 0.5137719479654954 9 Q9UHX1 1 |
| Abnormal lung lobation 0.624631851313717 1.682323646193309 0.092506098271843 1.0 0.5137719479654954 11 Q9UHX1,Q14739 2 |
| Hypoplasia of the odontoid process 0.7824372977258243 1.6809353084906526 0.0927754807866656 1.0 0.5137719479654954 5 P16278 1 |
| Fluctuations in consciousness 0.8122031643020702 1.679212578758999 0.093110621341256 1.0 0.5144288961406541 4 O75306,P04062 2 |
| Abnormal retinal vascular morphology 0.4455610611615119 1.678946573198965 0.0931624566603355 1.0 0.5144288961406541 44 P17900,O75306,Q15056,P35250,P10619,Q15555,P16278,Q13510,Q8WYQ5,Q99519 10 |
| Generalized aminoaciduria 0.7817797202315162 1.678195548669509 0.0933089304643661 1.0 0.5145952611519845 5 Q16134 1 |
| Abnormal aortic valve morphology 0.4831327227834585 1.6759817927514442 0.0937417590074531 1.0 0.5150820360041678 31 Q9UHX1,Q15056,P61978,P06280,O75844,P04062,P35250,Q6NUK1,Q14738,Q9Y4P3 10 |
| Abnormal elasticity of skin 0.4162253576023132 1.674638414353554 0.0940051974495084 1.0 0.5150820360041678 52 Q9UHX1,Q15056,Q13126,O75844,P04062,P07437,P35250,Q15555,Q9Y4P3,Q9NWM8,Q9Y487,Q15904 12 |
| Progressive neurologic deterioration 0.5411550208774376 1.6721022426365406 0.0945041624862714 1.0 0.5150820360041678 18 P04062,P16278,Q5XKP0 3 |
| Frontotemporal dementia 0.6404305032452502 1.6718102325323452 0.0945617484140592 1.0 0.5150820360041678 10 P05067,P22626,P35637,P31483,Q13501 5 |
| Symptomatic seizures 0.6651050408590446 1.6668468617695726 0.0955448593421781 1.0 0.5197969408000664 8 P31751,Q16836,P40939 3 |
| Hepatic failure 0.4599373886942329 1.6639112791641637 0.0961301606526339 1.0 0.5210460662011247 38 Q9Y619,O15460,O43772,P04062,P23786,Q16836,P40939,Q96J02,O75648,Q13510,Q00059 11 |
| Cardiac valve calcification 0.8082541243796696 1.66307472641028 0.0962974782517098 1.0 0.5210460662011247 4 P04062,O75844 2 |
| Mitral valve calcification 0.8082541243796696 1.66307472641028 0.0962974782517098 1.0 0.5210460662011247 4 P04062,O75844 2 |
| Abnormality of the wrist 0.5292345735224124 1.662874347035724 0.0963375903879519 1.0 0.5210460662011247 20 Q13510,O75844,P16278 3 |
| Bifid tongue 0.8539967373572509 1.6621570656677105 0.0964812860544248 1.0 0.5210460662011247 2 Q9UBM7 1 |
| Oligosacchariduria 0.9228886168910676 1.6607707287475209 0.0967595020809732 1.0 0.5219113142733474 3 P10253,P16278 2 |
| Skin rash 0.5390078203305906 1.6585194840797253 0.0972126581575971 1.0 0.5231009425858365 18 P28070,Q06136,Q14739 3 |
| Hypoglycemic seizures 0.7082243398971892 1.65650960577024 0.0976186614077294 1.0 0.5231009425858365 7 P31751,Q16836,P40939 3 |
| Abnormal bleeding 0.3846392677373593 1.6559878724595662 0.0977242748104005 1.0 0.5231009425858365 88 Q14108,Q9NZ08,O15460,Q9UHX1,Q99519,Q86YV9,P05067,Q6ZXV5,Q13126,O75844,P04062,P11117,P23786,Q02978,Q9NWM8,Q9Y487,Q14739 17 |
| Focal t2 hyperintense brainstem lesion 0.5635338475842534 1.6547279766087493 0.097979689426886 1.0 0.5233866743177743 15 Q8IUX1,O75306,Q8N183,O43676,Q9P032,Q9Y375 6 |
| Diffuse cerebral atrophy 0.6492603364962983 1.651867383828353 0.0985615883592219 1.0 0.524146581504769 9 P16278 1 |
| Flared iliac wing 0.8053309355759568 1.6511180595852188 0.0987144703580087 1.0 0.524146581504769 4 P16278 1 |
| Edema of the dorsum of feet 0.8503262642740619 1.6464736565608604 0.099666279395739 1.0 0.5247904211516442 2 Q9Y5S9 1 |
| Edema of the dorsum of hands 0.8503262642740619 1.6464736565608604 0.099666279395739 1.0 0.5247904211516442 2 Q9Y5S9 1 |
| Contractures of the large joints 0.8503262642740617 1.646473656560859 0.0996662793957392 1.0 0.5247904211516442 2 O75431 1 |
| Impaired oropharyngeal swallow response 0.850326264274055 1.6464736565608302 0.0996662793957452 1.0 0.5247904211516442 2 Q9NR77 1 |
| Abnormality of the gingiva 0.4550928821038339 1.6426912314726376 0.100446833920732 1.0 0.5276441169018977 39 Q14108,Q15056,Q9UBM7,P04062,P35250,P16278,Q15392,Q14739,Q99519 9 |
| Mesomelia 0.7708827330143422 1.6327139821862793 0.1025291653377835 1.0 0.5316371609484368 5 Q14739 1 |
| Optic neuropathy 0.5390553136342267 1.6281075996607977 0.1035020724051358 1.0 0.5339511983009357 17 Q8IUX1,O75306,Q8N183,O43676,Q9P032,Q9Y375 6 |
| Spastic paraparesis 0.533990426081091 1.6267091230062032 0.1037988902440796 1.0 0.5339511983009357 18 P04062,Q6DKK2,Q5XKP0 3 |
| Abnormal sternal ossification 0.7992530723019726 1.626228811592005 0.1039009892190336 1.0 0.5339511983009357 4 Q9Y619,O96028 2 |
| Limb ataxia 0.5284949911051698 1.6237737786780415 0.1044240982433437 1.0 0.5339511983009357 19 Q14108,Q8IV08,P04062,Q9NR77,Q13501 5 |
| Mitral stenosis 0.798341189794654 1.6224912827721778 0.1046981981157912 1.0 0.534200045988378 4 O75844 1 |
| Coarse facial features 0.4023280011999 1.6212788980861317 0.1049578385264822 1.0 0.534825483643584 55 Q9Y2Q5,P06280,P35250,P16278,P15586,Q969G3,Q99519,P38159,P18074,Q92785,P10619,O95831,Q15056,P61978,Q9UQR1,Q9Y263,P54802,Q9Y4P3,Q06787,Q13642 20 |
| Supernumerary bones of the axial skeleton 0.7674920994266082 1.6185323406226362 0.1055479229545217 1.0 0.5359798659332373 5 Q9Y5S9,Q9UHX1 2 |
| Preaxial hand polydactyly 0.7672100371688867 1.6173519675679968 0.1058023276147399 1.0 0.5366556135779758 5 Q9UHX1 1 |
| Shuffling gait 0.6542465386398143 1.6151123362724105 0.1062863699299276 1.0 0.5384932579611341 8 O75844 1 |
| Abnormality of prothrombin 0.611288750124913 1.6131014806672814 0.106722462242278 1.0 0.5394668005686807 11 Q16836,Q5XKP0 2 |
| Diffuse white matter abnormalities 0.910375212561898 1.6125067856502064 0.1068517045223262 1.0 0.5395035263724305 3 P16278 1 |
| Wormian bones 0.5744130530921231 1.611406745066562 0.1070910980539356 1.0 0.5399162338519856 13 O75718,O75844,O95831,Q9Y487 4 |
| Long toe 0.6976866595788707 1.6092222578813535 0.1075677511428705 1.0 0.5403592280280763 7 Q15738,Q9UHX1,P23786 3 |
| Macular degeneration 0.5915220582592192 1.6034923502240324 0.1088259966929945 1.0 0.5451595730760888 12 Q13510,P50897,P04062 3 |
| Sensory axonal neuropathy 0.5728619267974555 1.6026555054641576 0.1090107320439131 1.0 0.5451595730760888 13 O95140,Q8IV08,P22626,O95831,Q15067 5 |
| Abnormal mitral valve physiology 0.4800792215303213 1.6023365072881317 0.1090812168601262 1.0 0.5451595730760888 29 Q9NZ08,O75306,Q15056,P06280,O75844,P04062,P35250,Q9Y4P3,P40939,O75431 10 |
| Abnormalities of placenta or umbilical cord 0.5910076413584056 1.600705382824947 0.109442188379955 1.0 0.5462772908827731 12 P16278 1 |
| Aplasia hypoplasia of the femur 0.6074807453568691 1.5932655471424455 0.1111006321888772 1.0 0.5490481521468201 11 Q9UHX1 1 |
| Abnormal endocardium morphology 0.5709398705284001 1.59180176207847 0.111429254116391 1.0 0.5495922139187167 13 Q9NZ08,Q15056,P06280,P04062,P35250 5 |
| Thoracic scoliosis 0.6239916301737788 1.5895367581628346 0.1119392621070649 1.0 0.551344494765644 10 Q9UHX1 1 |
| Hypomimic face 0.6928038064090364 1.587249450260277 0.1124561590247981 1.0 0.5522840015639933 7 Q9Y263,P04062,P35270 3 |
| Enchondroma 0.6472880878646778 1.581838084560656 0.1136865383497613 1.0 0.5531281777533914 8 P48735 1 |
| Abnormal oral mucosa morphology 0.4145139732926465 1.5796635227136442 0.1141839434895557 1.0 0.5531281777533914 50 Q14108,Q9NZ08,Q15056,Q9UBM7,P04062,P35250,P16278,Q15392,Q14739,Q99519 10 |
| Congenital craniofacial dysostosis 0.8344208809135426 1.5784152248077954 0.1144702498132255 1.0 0.5531281777533914 2 Q6NUK1 1 |
| Aplasia hypoplasia of the nasal bone 0.8344208809135426 1.5784152248077954 0.1144702498132255 1.0 0.5531281777533914 2 Q6NUK1 1 |
| Bacterial endocarditis 0.8344208809135304 1.578415224807743 0.1144702498132375 1.0 0.5531281777533914 2 P04062 1 |
| Bilateral tonic clonic seizure with generalized onset 0.6906613604469973 1.5775965759570336 0.1146583195090138 1.0 0.5531281777533914 7 Q13510 1 |
| Abnormal blood glucose concentration 0.3882532914142672 1.5773065877099353 0.1147249973248185 1.0 0.5531281777533914 76 P31751,Q13423,P40939,O75880,Q9Y375,O75306,O43772,Q16134,P23786,Q9BZH6,P13804,O75844,Q16836,P16219,O43676,Q00059,P22695,Q14738,Q5XKP0,Q9H0R6,Q9P032,Q8N183 22 |
| Pulmonary infiltrates 0.6904895808101011 1.5768223063619775 0.1148364175161831 1.0 0.5531281777533914 7 Q9NZ08,Q13510 2 |
| Asymmetric septal hypertrophy 0.8340130505709626 1.576668302911767 0.1148718674284134 1.0 0.5531281777533914 2 P54802 1 |
| Infectious encephalitis 0.7355587525738323 1.5758834667743569 0.1150526618885643 1.0 0.5531281777533914 6 Q14739 1 |
| Talipes calcaneovalgus 0.7867362785185827 1.574854323482976 0.115290073908878 1.0 0.5531739091488879 4 Q9UBM7 1 |
| Velopharyngeal insufficiency 0.7865946783009279 1.5742722736890586 0.1154245168498366 1.0 0.5531739091488879 4 Q9BUF5 1 |
| Thoracic kyphosis 0.5675217013989294 1.572473096399904 0.1158408737481808 1.0 0.5537709053157566 13 Q9UHX1,P04062,O95831 3 |
| Bradycardia 0.6887329334764496 1.5689018770769263 0.1166708044453883 1.0 0.5558560418111068 7 O43772,O75880,O43464 3 |
| Aortic valve calcification 0.898333431875202 1.565971418348841 0.1173553085208176 1.0 0.5558560418111068 3 O75844 1 |
| Abnormal corneal epithelium morphology 0.5389257691748222 1.56514472618067 0.1175489783985588 1.0 0.5558560418111068 16 Q9NZ08,O75844,Q14739,P18074 4 |
| Abnormal astrocyte morphology 0.5843869032403034 1.5647739793452915 0.1176359150068735 1.0 0.5558560418111068 12 P48735,O75874,O95831,Q13501 4 |
| Premature rupture of membranes 0.753884308556445 1.5614817423298086 0.1184101283720164 1.0 0.5558560418111068 5 O75844 1 |
| Abnormality of fontanelles 0.4515194646947717 1.558935880005996 0.1190115570589269 1.0 0.5576145305843581 36 Q9Y619,P13804,Q16134,O75718,O75844,Q14738,P20674,Q9Y487 8 |
| Gastrointestinal hemorrhage 0.4798697939203869 1.5576683159392095 0.1193118949993303 1.0 0.5579877720771679 27 Q9UHX1,Q14739 2 |
| Decreased activity of mitochondrial complex i 0.4796960574636516 1.5563855148810146 0.1196164475431882 1.0 0.5580839108475966 27 Q8IUX1,O75306,Q8N183,O43676,O75648,Q9H0R6,Q9P032,Q9UBX3,Q9Y375,Q70HW3 10 |
| Airway obstruction 0.5643209480893794 1.554343522554121 0.1201024971750945 1.0 0.5597611643892975 13 O75844,P09601 2 |
| Visual loss 0.4395955075036211 1.5512828171446504 0.1208339227866883 1.0 0.5601490028861033 41 O75306,P48449,O15460,P50897,P40939,O75503,Q99519 7 |
| Abnormal cellular phenotype 0.3840243779123731 1.5497508389440633 0.1212013306916321 1.0 0.5601490028861033 150 P28070,P21964,Q9Y2Q5,P40939,P09601,O75880,P15586,Q15904,Q9Y375,Q13501,Q14739,O75306,O43772,Q16134,P23786,Q969G3,O75503,Q13510,Q8WYQ5,Q14108,P13804,O75844,P18074,P00403,Q16836,P20674,Q9Y5S9,O43676,Q96J02,Q70HW3,P04062,P35637,P17812,O75648,Q9H0R6,Q9P032,Q9UBX3,Q8N183 38 |
| Glomerulopathy 0.6283933207688865 1.5496892329155705 0.1212161236648226 1.0 0.5601490028861033 9 Q9NZ08,Q14108 2 |
| Osteopetrosis 0.8274877650897143 1.5487070525135749 0.1214521577589349 1.0 0.5601490028861033 2 Q15392 1 |
| Aplastic clavicle 0.8274877650897134 1.5487070525135709 0.1214521577589358 1.0 0.5601490028861033 2 Q9Y619 1 |
| Coma 0.4728914542162918 1.54802928180967 0.1216152467027353 1.0 0.5603169126731236 29 Q9Y619,O43772,P05067,Q16134,P23786,Q16836,P40939 7 |
| Decreased calvarial ossification 0.7791032633979109 1.543452916080892 0.1227209230883228 1.0 0.5630649821780621 4 O75844 1 |
| Severe lactic acidosis 0.8920873222046485 1.5418029573072871 0.1231214832249896 1.0 0.5637445016954794 3 Q70HW3 1 |
| Pleural effusion 0.6259443453093386 1.537640101082976 0.124136636767471 1.0 0.5671130083022635 9 Q14739 1 |
| Osteolytic defects of the distal phalanges of the hand 0.7774865684339162 1.5367954668061288 0.1243434038915323 1.0 0.5671130083022635 4 O75844 1 |
| Gingival overgrowth 0.4875828100461081 1.533596870287809 0.1251288587538035 1.0 0.5688026128140524 24 Q13155,Q99519,Q15056,P35250,Q9Y4P3,P16278,Q9UM00,Q9UBM7,Q14739 9 |
| Coxa valga 0.5780307493853964 1.53017231318191 0.1259740826299031 1.0 0.5709849693789367 12 O75844,P16278 2 |
| Unilateral renal agenesis 0.523266361539915 1.5289439729464511 0.1262783338707078 1.0 0.5709849693789367 17 Q9UBM7,Q9UHX1 2 |
| Renal tubular dysfunction 0.4759473383255032 1.528669199831338 0.1263464714975162 1.0 0.5709849693789367 27 Q8IUX1,O75306,P13804,Q8N183,Q4G0N4,Q16134,P00403,O43676,Q9P032,Q9Y375 10 |
| Cutaneous photosensitivity 0.5085650671018145 1.5269117561827494 0.1267829558410673 1.0 0.5720401695161347 20 Q14108,Q9UBM7,Q06136 3 |
| Sensorimotor neuropathy 0.4865882391775913 1.5265387733287947 0.1268757418709762 1.0 0.5720401695161347 24 P41440,Q9NR77,O95831,P40939,Q15120 5 |
| Abnormality of facial soft tissue 0.3717954508693544 1.524237739376083 0.1274493337431415 1.0 0.5729982286122594 90 Q99519,Q9BUF5,Q9UHX1,P28070,Q15056,P10253,O75844,P04062,P35270,P35250,Q14738,Q8NFH4,P16219,Q9Y4P3,Q969G3,Q13510,Q9UBM7,Q13501 18 |
| Abnormal femoral neck head morphology 0.4598958107746956 1.5221683957710352 0.1279668918627889 1.0 0.5735337263057698 32 Q9Y619,O75844,O95831,P16278,Q9Y487,Q14739 6 |
| Organic aciduria 0.4563148867321882 1.5216441682511974 0.1280982641375565 1.0 0.5735337263057698 33 O43772,Q96EY8,P13804,Q4G0N4,Q16134,Q8NFF5,P23786,Q9HC21,Q16836,P16219,P40939,O75880,P48735 13 |
| Capillary malformation 0.593421454818885 1.5197343306197029 0.1285777596128081 1.0 0.5739149122139626 11 P35250,Q9UHX1,Q9Y4P3,Q15056 4 |
| Abnormal lung development 0.4485744859269091 1.5197324292196102 0.1285782376840003 1.0 0.5739149122139626 35 Q9UHX1,P13804,Q16134,O75844,O96028,Q6NUK1,Q9UBM7,Q8WYQ5,Q14739 9 |
| Abnormal aortic arch morphology 0.67782661960357 1.5196231130489697 0.12860572549625 1.0 0.5739149122139626 7 Q9UHX1 1 |
| Abnormal heart valve physiology 0.3897766949379414 1.519173312455673 0.1287188769876217 1.0 0.5739149122139626 64 Q9NZ08,O75306,Q9UHX1,Q15056,P06280,O75844,P04062,P35250,Q6NUK1,Q9Y4P3,P40939,P16278,Q15904 13 |
| Mild postnatal growth retardation 0.8197389885807503 1.5154807161826676 0.1296507101978452 1.0 0.5765813426710206 2 P10644 1 |
| Hand polydactyly 0.4963018497547059 1.5153068382820534 0.1296947173791132 1.0 0.5765813426710206 22 Q9UHX1,O96028,Q9Y263,Q9UM00,Q15067,Q9BW83,Q9UBM7,Q14739 8 |
| Kyphosis 0.3635111662783422 1.5152544088860094 0.1297079891380659 1.0 0.5765813426710206 115 Q9UHX1,P35250,P07237,Q9NR77,P16278,Q9Y375,Q14739,Q9NWM8,Q8N0X7,Q99519,Q14108,Q15738,O75844,O96019,P18074,O95831,Q9UBM7,Q9Y487,Q15056,O95140,P51648,P04062,O96028,Q9Y263,Q9Y4P3,O75648,Q13642,Q9P032 28 |
| Ureteral duplication 0.7717833358718053 1.513292625256694 0.1302053451372475 1.0 0.5782110858855884 4 O75844 1 |
| Breech presentation 0.6755729681282445 1.5094186621407526 0.1311918268941192 1.0 0.5814681997836025 7 Q9Y619,Q9UBM7 2 |
| Abnormal aortic valve cusp morphology 0.5108651678427965 1.5093798765997224 0.1312017326213057 1.0 0.5814681997836025 19 Q9UHX1,Q15056,Q14738,Q6NUK1,P35250,Q9Y4P3 6 |
| Angina pectoris 0.8825933309370947 1.5050332971966869 0.1323155163600371 1.0 0.5839034709560479 3 O75844 1 |
| Acidemia 0.590464587055524 1.5042124073817456 0.1325266840614283 1.0 0.5839034709560479 11 P48735,Q16134 2 |
| Orthostatic hypotension 0.5903607941097053 1.5036672017790822 0.1326670782601648 1.0 0.5839034709560479 11 P04062 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.6308949243151484 1.503094792811605 0.1328146014181959 1.0 0.5839034709560479 8 P04062,P31930 2 |
| Abnormal urine ph 0.4502341875525094 1.5020799394357744 0.1330764650106373 1.0 0.5839034709560479 34 O43772,Q96EY8,P13804,Q4G0N4,Q16134,Q8NFF5,P23786,Q9HC21,Q16836,P16219,P40939,O75880,P48735 13 |
| Abnormal atrioventricular conduction 0.6063313998793238 1.5004972965158214 0.1334856332782492 1.0 0.5839034709560479 10 O43772 1 |
| Increased serum pyruvate 0.4693899334169342 1.4999069709349375 0.1336385020207744 1.0 0.5839034709560479 28 Q8IUX1,O75306,Q8N183,P22695,O95831,O43676,Q5JRX3,Q9P032,Q9Y375,Q70HW3 10 |
| Malrotation of small bowel 0.7682118799314419 1.498561640955657 0.1339873902424213 1.0 0.5839034709560479 4 O96028,Q13363 2 |
| Hemiparesis 0.5543508448107319 1.497688287678551 0.1342142562632804 1.0 0.5839034709560479 13 Q9NZ08,P00403,Q9BVA1 3 |
| Urinary glycosaminoglycan excretion 0.7386688444262863 1.4974553154027674 0.1342748243091553 1.0 0.5839034709560479 5 P15586,P54802,P16278,P08236 4 |
| Eeg with generalized slow activity 0.6727961122313315 1.4968353599137043 0.1344361030648762 1.0 0.5839034709560479 7 O75503 1 |
| Bulbar palsy 0.6054304780928654 1.4959379460214235 0.1346698266963693 1.0 0.5839034709560479 10 P35637,P31483,O43681,Q13501 4 |
| Late onset 0.6165681167550173 1.491403459824168 0.1358556003070636 1.0 0.5859277156008176 9 P31751,P31483,P31930 3 |
| Abnormal iliac wing morphology 0.6715861131418925 1.4913489275570482 0.1358699094651181 1.0 0.5859277156008176 7 P16278 1 |
| Neurofibrillary tangles 0.7661728200107859 1.490146928585789 0.1361856072211584 1.0 0.5859277156008176 4 P61916,P05067 2 |
| Drowsiness 0.7657681078774811 1.4884764156111847 0.1366252973337967 1.0 0.5859277156008176 4 P35270 1 |
| Sensory ataxia 0.7656575859432219 1.488020198311173 0.1367455669924833 1.0 0.5859277156008176 4 P54802,Q9NR77 2 |
| Nephrotic syndrome 0.497562912787411 1.4876927750518945 0.136831933840192 1.0 0.5859277156008176 21 Q14108,O95721,Q8NCH0,Q9BW83,P06280,P51809,Q07021,P57081 8 |
| Abnormality of the pancreas 0.3893666851010286 1.4874227437833891 0.1369031936412794 1.0 0.5859277156008176 56 Q9NZ08,Q9UHX1,Q01844,P09601,Q15904,Q14739 6 |
| Decreased light and dark adapted electroretinogram amplitude 0.8780459918980451 1.4874091578395454 0.1369067796552081 1.0 0.5859277156008176 3 P50897 1 |
| Echolalia 0.6157058339976398 1.4871431880954007 0.1369769970452736 1.0 0.5859277156008176 9 Q9UHX1 1 |
| Abnormality of the peripheral nervous system 0.3798926530092585 1.481391078712881 0.1385023906541094 1.0 0.5875430903700074 76 Q9Y619,P41440,P04792,O95721,P31930,P06280,Q9UBM7,P04062,Q9NR77,O95831,Q15067,Q15120,Q99720,O43681,Q99519 15 |
| Supernumerary tooth 0.734460626354141 1.4797074508567876 0.1389513363373691 1.0 0.5875430903700074 5 Q9UHX1 1 |
| Abnormal mitochondria in muscle tissue 0.5106079110186013 1.4771913463752575 0.1396243528006118 1.0 0.5875430903700074 18 Q8IUX1,O75306,Q8N183,P00403,O43676,Q9P032,Q9Y375 7 |
| External ear malformation 0.612830767039544 1.472928779786907 0.1407702408289961 1.0 0.5890851552542273 9 Q8NCH0,Q15555,Q00577,P07437 4 |
| Hepatosplenomegaly 0.4568078493460107 1.471844335295284 0.141062918165834 1.0 0.5890851552542273 31 P04062,P10619,P16278,Q13510,Q14739 5 |
| Intellectual disability progressive 0.5842659287449705 1.4716111650514592 0.1411259088100993 1.0 0.5890851552542273 11 P18074,O95831,O95721 3 |
| Calcinosis 0.7320036110057212 1.469337804316019 0.1417411878008267 1.0 0.5890851552542273 5 Q14739 1 |
| Abnormality of the hallux 0.4277232415706632 1.4686099395519794 0.1419386173528241 1.0 0.5890851552542273 42 Q9UHX1,P04792,Q15056,O95140,O96028,Q13363,P04062,P35250,O96019,Q9Y4P3,P10644,O75648,Q13642,Q9Y3E5,Q96J02 15 |
| Abnormality of peripheral nerves 0.4405919733981892 1.4678827782776798 0.1421360669358367 1.0 0.5890851552542273 36 Q9Y619,P04792,O95721,P31930,Q9NR77,O95831,Q15120,Q99720,O43681 9 |
| Nausea and vomiting 0.3622438233178878 1.4676668955988894 0.1421947271825874 1.0 0.5890851552542273 119 Q9Y619,P06280,Q92804,P35250,Q01844,P40939,Q9Y375,Q13501,P42892,O75306,P07737,Q16134,P23786,O43464,Q02978,Q15165,P13804,P00403,Q16836,O43676,Q9UBM7,Q9NZ08,Q15056,P22695,P11117,P35637,Q9Y4P3,O75648 28 |
| Wide cranial sutures 0.6662740025701643 1.467239201259 0.1423109963849902 1.0 0.5890851552542273 7 O75844 1 |
| Abnormal circulating dicarboxylic acid concentration 0.4386508129237331 1.4669977242631524 0.1423766744216072 1.0 0.5890851552542273 37 P41440,P13804,Q16134,P22695,P23786,P48735,Q14739 7 |
| Brachydactyly 0.4098423226443506 1.465656950425989 0.1427417677518025 1.0 0.5894928466538027 48 P48449,Q9UHX1,Q06136,O95831,Q14739 5 |
| Hyperconvex nail 0.6226044653911003 1.463094978936896 0.1434413916003392 1.0 0.5907403924836689 8 Q9Y619,O96028,P48651,P42892 4 |
| Abnormality of hepatobiliary system physiology 0.3852805583027279 1.4619301554745123 0.1437603504278879 1.0 0.5907403924836689 62 Q9Y619,O75306,O43772,O15460,Q9H0R6,P22695,P04062,P23786,Q16836,P40939,Q5XKP0,Q96J02,O75648,Q13510,Q00059 15 |
| Aplasia hypoplasia of the ribs 0.5310519591428869 1.4611336039576464 0.1439787798094947 1.0 0.5907403924836689 15 Q03164,Q9UHX1,Q14739 3 |
| Cholestatic liver disease 0.7589955672359794 1.4605046558552237 0.1441514288982994 1.0 0.5909006209612405 4 Q9UBM7 1 |
| Metatarsus adductus 0.6092565542869927 1.4552375745886 0.1456035019463213 1.0 0.5940998977016413 9 Q9UBM7,Q15392,O96028,Q13363 4 |
| Abnormal femoral neck morphology 0.4700077010305569 1.449534953121261 0.1471882464478593 1.0 0.5963166840986538 25 Q9Y619,O75718,O75844,Q9Y5S9,P16278,O95831,Q9Y487 7 |
| Abnormal pulmonary interstitial morphology 0.4673353107710682 1.4466165695649096 0.1480043428572266 1.0 0.5963166840986538 26 Q14108,Q13510,P09601 3 |
| Increased susceptibility to fractures 0.4226533139459109 1.4463256819580137 0.1480858757274321 1.0 0.5963166840986538 43 Q14108,Q13126,O75718,O75874,P04062,P22626,P48735,Q14739,Q13501 9 |
| Abnormal brainstem mri signal intensity 0.5055977933503293 1.4448949162266702 0.1484874045139677 1.0 0.596512070994804 18 Q8IUX1,O75306,Q8N183,O95831,O43676,Q9P032,Q9Y375 7 |
| Broad palm 0.7248358831058033 1.439057707124319 0.1501341734163963 1.0 0.6002338659971069 5 Q13642,O95831,Q14739 3 |
| Increased connective tissue 0.6598922573363969 1.4382264623634142 0.1503698092283518 1.0 0.6002338659971069 7 P31751,O95831 2 |
| Multiple prenatal fractures 0.7245854708907499 1.4379990869092705 0.1504343132199765 1.0 0.6002338659971069 5 Q14739 1 |
| Neck flexor weakness 0.8646864403732301 1.4355949817431994 0.1511176235269209 1.0 0.6002338659971069 3 P35637 1 |
| Neoplasm of the adrenal gland 0.5934630150803653 1.4352263422770004 0.1512226094084083 1.0 0.6002338659971069 10 P48735 1 |
| Stillbirth 0.5934157972169031 1.4349862790741756 0.1512910075614675 1.0 0.6002338659971069 10 O75844,Q14739 2 |
| Multiple enchondromatosis 0.7236065350746623 1.4338601576968424 0.1516121736234947 1.0 0.6002338659971069 5 P48735 1 |
| Aplasia hypoplasia of the lungs 0.4734753288582475 1.4330640233055116 0.151839541634287 1.0 0.6002338659971069 24 P13804,Q16134,O75844,O96028,Q6NUK1,Q9UBM7,Q14739 7 |
| Hypotension 0.4942735090457105 1.4319075425148071 0.1521702833707821 1.0 0.6002338659971069 20 O43772,P04062 2 |
| Dystrophic toenail 0.7518941210131418 1.4311425475242336 0.1523893653471777 1.0 0.6002338659971069 4 O75844 1 |
| Slurred speech 0.6581166546034916 1.4301452227184843 0.1526753431592729 1.0 0.6002338659971069 7 Q9Y487,P16278,Q99519 3 |
| Areflexia 0.3819880848809667 1.4298807707394208 0.1527512418736722 1.0 0.6002338659971069 63 O43505,P41440,O75340,P04792,O95140,O95721,P61978,Q15041,Q14738,Q9NR77,O60701,P40939,O95831,Q15120,Q15067,Q13510,P10253,Q13501 18 |
| Abnormal systemic arterial morphology 0.357683743180188 1.4297341371485317 0.1527933386374043 1.0 0.6002338659971069 116 Q9UHX1,P35250,Q6NUK1,P16278,Q6ZXV5,P05067,Q9NWM8,Q13510,Q8WYQ5,Q99519,P61916,O75844,O96019,P18074,P10619,Q9Y5S9,Q9UBM7,P17900,O15460,Q15056,O15118,P04062,Q9Y4P3,O75648,P10253 25 |
| Ascites 0.4730037268534995 1.429688154551496 0.152806541513168 1.0 0.6002338659971069 24 Q14108,P04062,Q01844,Q13510,Q14739,Q99519 6 |
| Abnormal thoracic spine morphology 0.4829296540844907 1.423256151234139 0.1546619132576119 1.0 0.6041831966848639 22 P04062,Q9UHX1,O75844,O95831 4 |
| Abnormality of the odontoid process 0.6994230250316283 1.4214818525067434 0.1551767256427088 1.0 0.6041831966848639 6 P16278 1 |
| Ectopic kidney 0.574561916565952 1.4204132747985527 0.155487400380303 1.0 0.6041831966848639 11 P35250,Q9UHX1,Q15056 3 |
| Paroxysmal involuntary eye movements 0.5153775143803077 1.4201690751731957 0.1555584644007024 1.0 0.6041831966848639 16 Q8IUX1,O75306,Q8N183,O43676,Q9P032,Q9Y375 6 |
| Pituitary adenoma 0.5744298363743103 1.4197151297872876 0.1556906315976127 1.0 0.6041831966848639 11 P48735 1 |
| Chorioretinal degeneration 0.7197249215119935 1.4174415980337025 0.1563538579366521 1.0 0.6041831966848639 5 Q9Y619 1 |
| Lipid accumulation in hepatocytes 0.3820330011073774 1.416823119981017 0.1565346483292771 1.0 0.6041831966848639 59 O75431,O43772,P13804,Q16134,P23786,P22626,P31751,P09651,Q16836,P16219,P40939,Q15067,Q5XKP0,O75648,Q00059,Q15904,Q9Y375 17 |
| Abnormal sensory nerve conduction velocity 0.7482001688117873 1.4158577319055572 0.1568171625128247 1.0 0.6041831966848639 4 Q9NR77,O95140 2 |
| Chronic pulmonary obstruction 0.697151987439549 1.4117323981030534 0.15802877008639 1.0 0.6072643354405762 6 P09601 1 |
| Cardiomegaly 0.445911476654386 1.4111748592237243 0.1581930612475899 1.0 0.6073679773420921 32 Q15056,P04062,P23786,P35250,P20674,P10253,Q14739,Q99519 8 |
| Severe short stature 0.4861965052952677 1.4106546049047624 0.1583464823179072 1.0 0.6074297409298385 21 Q9Y619,P10619,P16278 3 |
| Ankylosis 0.7177941578382795 1.4092707061122531 0.1587551373623033 1.0 0.607521561044646 5 P48651,P16435,O75844 3 |
| Loss of subcutaneous adipose tissue in limbs 0.7463339355464003 1.4081329016557609 0.1590917201293762 1.0 0.607521561044646 4 O75844 1 |
| Nasogastric tube feeding in infancy 0.6524365683554914 1.4042686534767357 0.1602388649435167 1.0 0.6088801543343422 7 O75648,Q9UHX1 2 |
| Sea blue histiocytosis 0.8563851489188141 1.403379693494483 0.1605036450631811 1.0 0.6093627657634766 3 P61916,P16278 2 |
| Abnormal urine protein level 0.3929940351204494 1.4015462022014673 0.1610508015598324 1.0 0.6103921981997762 51 Q14108,Q15056,O95721,P06280,Q8NFH4,P04062,P35250,Q02978,P00403,Q9Y4P3,P09601,Q99519 12 |
| Cranial asymmetry 0.7444639760932623 1.400390911936131 0.1613962899899568 1.0 0.6111779029328587 4 O96028 1 |
| Abnormal nerve conduction velocity 0.4410993885370731 1.3991320168868653 0.1617733982477796 1.0 0.611558752521307 33 Q9Y619,P04792,P31930,Q9NR77,O95831,Q15120,Q99720,O43681 8 |
| Positional foot deformity 0.3770872673795595 1.3982752081409968 0.1620304397362124 1.0 0.6120073739993747 68 Q9Y619,Q9UHX1,P04792,P21964,Q8NCH0,P16435,P08236,Q03001,Q6NUQ1,Q9NR77,Q15392,Q6ZXV5,Q9NWM8,Q9Y3E5,Q8WYQ5,Q13363,Q9HC21,P18074,Q9Y5S9,Q9UM00,Q9UBM7,P61978,Q9UQR1,O96028,Q9Y487,Q96AY3 26 |
| Arthralgia 0.452967030911179 1.3960853538677025 0.1626887937144383 1.0 0.6124456942360339 29 Q9NZ08,P28070,O15460,Q15056,P06280,P35250,P18074,Q13510 8 |
| Mitochondrial myopathy 0.4789303208236443 1.3955872368968985 0.1628388280401482 1.0 0.6124456942360339 22 Q8IUX1,O75306,Q8N183,P00403,Q9P032,O43676,P12235,Q9Y375 8 |
| Abnormal urine carbohydrate level 0.5967172441713726 1.3930042090423875 0.1636185178844382 1.0 0.6141814170243065 9 P10253,P16278 2 |
| Ectopic calcification 0.4054461347939322 1.3926789081303208 0.1637169094894093 1.0 0.6141814170243065 47 O00584,P05067,O75844,P04062,P23786,P18074,Q9UBM7,Q14739,Q99519 9 |
| Global brain atrophy 0.500697076719921 1.3856734488095783 0.1658466391873869 1.0 0.6189140583094743 17 P35637,Q9UHX1,Q13501 3 |
| Chorioretinal atrophy 0.7406702107447338 1.3846790090687258 0.1661506403715447 1.0 0.6189140583094743 4 Q9Y619 1 |
| Dermatological manifestations of systemic disorders 0.3796220885363349 1.381823608604519 0.167025868215785 1.0 0.6195272116583923 55 P61916,O43772,P13804,Q16134,O75844,P00374,Q15904,Q14739 8 |
| Periventricular leukomalacia 0.534035033256751 1.3814413766971736 0.1671432911209764 1.0 0.6195272116583923 13 P18074,Q9UHX1 2 |
| Aplasia hypoplasia involving bones of the thorax 0.4662535064130872 1.3812654293653654 0.1671973635667403 1.0 0.6195272116583923 24 Q03164,Q9UHX1,O75844,Q14739 4 |
| Renal hypoplasia 0.4710215209599609 1.3767932317278588 0.1685761840078843 1.0 0.6195272116583923 23 Q9UBM7,Q9UHX1,Q15056,P35250 4 |
| Abnormality of the skull base 0.41495477694945 1.3763446932357724 0.168714942104164 1.0 0.6195272116583923 43 Q9UHX1,P07437,Q9Y487,Q9UBM7,Q14739 5 |
| Lambdoidal craniosynostosis 0.7871125611745544 1.3754549112075267 0.1689904551730903 1.0 0.6195272116583923 2 P61978 1 |
| Elbow ankylosis 0.7871125611745527 1.375454911207521 0.168990455173092 1.0 0.6195272116583923 2 P48651 1 |
| Humeroradial synostosis 0.7871125611745527 1.375454911207521 0.168990455173092 1.0 0.6195272116583923 2 P48651 1 |
| Facial hemangioma 0.7871125611745374 1.375454911207455 0.1689904551731125 1.0 0.6195272116583923 2 Q9UBM7 1 |
| Facial capillary hemangioma 0.7871125611745374 1.375454911207455 0.1689904551731125 1.0 0.6195272116583923 2 Q9UBM7 1 |
| Abnormal circulating cholesterol concentration 0.4654074118845045 1.375182700841483 0.1690748100743015 1.0 0.6195272116583923 24 Q15738,P61916,Q9UBM7,Q15392,Q15904,O75431,Q14739 7 |
| Aplasia hypoplasia of the tongue 0.7383763184337159 1.375175843160663 0.1690769355995423 1.0 0.6195272116583923 4 P48651,Q9UBM7 2 |
| Microglossia 0.7383763184337159 1.375175843160663 0.1690769355995423 1.0 0.6195272116583923 4 P48651,Q9UBM7 2 |
| Heparan sulfate excretion in urine 0.7383673469387733 1.375138671788986 0.1690884571449062 1.0 0.6195272116583923 4 P15586,P54802,P08236 3 |
| Megalocornea 0.5815609484074422 1.3745927385490244 0.169257741098191 1.0 0.6195272116583923 10 Q96EK5,Q15056,O96028,P35250 4 |
| Abnormal bone structure 0.36781059166315 1.374287038863221 0.1693525885042408 1.0 0.6195272116583923 143 Q9Y619,P06280,Q86XL3,P35250,P07237,P16278,P48735,Q15392,Q9Y375,Q14739,Q13501,O75874,Q9NWM8,Q13510,Q99519,Q14108,Q13126,O75718,O75844,P18074,O95831,Q9UBM7,Q15056,Q9UG56,P04062,O96028,P51809,P22626,Q9Y4P3,Q9Y487 30 |
| Abnormal visual fixation 0.7367923909976535 1.368612717182955 0.1711203666508742 1.0 0.6204810259392063 4 Q13510 1 |
| Abnormal autonomic nervous system physiology 0.4589202018636142 1.3685244845609106 0.1711479633287613 1.0 0.6204810259392063 25 P41440,P06280,P04062,Q15067,O43681,P42892 6 |
| Phenotypic variability 0.3694771968343317 1.368189075114908 0.1712529003660436 1.0 0.6204810259392063 77 P17900,Q9BUF5,Q9BVA1,P35270,P00374,Q9NR77,P00403,Q9H061,Q92733,O14979,Q13510,Q9Y375 12 |
| Abnormality of blood circulation 0.3769411176588146 1.36762847034635 0.1714284001125277 1.0 0.6204810259392063 61 Q9NZ08,Q9UHX1,P05067,O75844,P04062,Q9Y487,Q14739 7 |
| Meningitis 0.7075824262799043 1.3660142116251786 0.1719345027991268 1.0 0.6210938036790739 5 Q9NZ08 1 |
| Abnormal cardiac test 0.5312644832622587 1.3655115349138702 0.1720923301604622 1.0 0.6210938036790739 13 Q16836,P10253,P40939 3 |
| Abnormal retinal morphology 0.3770941729344212 1.360961359381889 0.1735259009581895 1.0 0.6221956734508463 167 Q9Y619,Q9UHX1,P35250,P50897,P16278,P40939,Q9Y375,O75306,P07437,O75503,Q13510,Q8WYQ5,P68371,Q99519,P18074,P10619,Q16836,P00403,Q15067,Q9BW83,Q9NZ08,P17900,Q15056,O75648,Q9UG56,P04062,O96028,Q15555,Q9Y4P3,Q5XKP0,Q9Y487 31 |
| Leukoencephalopathy 0.36884000569962 1.3607422282131163 0.1735951646153826 1.0 0.6221956734508463 77 P17900,O75306,Q9UHX1,O00584,O96028,P18074,O95831,O43676,O75503,O75648,Q9Y375,O43681 12 |
| Abnormality of the abdominal wall 0.3637281790747624 1.3599957450695326 0.1738312703690283 1.0 0.6221956734508463 84 Q99519,Q9UHX1,Q15056,O75844,P07437,P35250,P18074,Q15555,Q9Y4P3,P16278,Q9NWM8,Q9Y487,Q9UBM7,Q8WYQ5,Q14739 15 |
| Ulnar deviation of the hand or of fingers of the hand 0.6011943349313227 1.3593087068280427 0.1740487861776976 1.0 0.6221956734508463 8 Q14739 1 |
| Cardiovascular calcification 0.6425596846242106 1.3591884065856816 0.1740868940531679 1.0 0.6221956734508463 7 P04062,O75844 2 |
| Rhabdomyolysis 0.5468376470837346 1.358980106810393 0.1741528925462689 1.0 0.6221956734508463 12 O43772,P40939 2 |
| Advanced eruption of teeth 0.5896357047794134 1.3577511926313617 0.1745426467753286 1.0 0.6225823602316761 9 O75844 1 |
| Transient ischemic attack 0.6416761156645168 1.3551507614284628 0.1753695286219956 1.0 0.622709737499844 7 O75844 1 |
| Abnormal diaphysis morphology 0.3984197123731769 1.3549073322540688 0.1754470832701877 1.0 0.622709737499844 48 Q9Y619,Q15056,Q13126,O75718,P35250,P07237,Q9NR77,Q9Y5S9,Q9Y4P3,P16278,Q9Y487,Q8N0X7,Q14739 13 |
| Hypertrophic cardiomyopathy 0.3580553384451064 1.35393320020882 0.175757690260434 1.0 0.622709737499844 90 P06280,P35250,Q13423,Q9H061,P16278,P40939,P15586,Q9Y375,O75306,Q96IX5,Q8IUX1,P00403,Q16836,O43676,P12235,Q15056,Q9H0R6,P54802,Q9Y4P3,Q9P032,Q5XKP0,Q13642,P10253,Q8N183,Q99797 25 |
| 2 3 toe syndactyly 0.4825433915048816 1.3533719293354889 0.1759368404773182 1.0 0.622709737499844 20 Q9UBM7,Q9UHX1 2 |
| Short nail 0.7327589803746668 1.351895915702708 0.1764086143086829 1.0 0.622709737499844 4 O75844 1 |
| Ventricular arrhythmia 0.4495248324560802 1.3496960879077775 0.1771134877392881 1.0 0.6228391383141 28 O75306,O43772,Q8NFF5,P23786,P00403,P04899,P10253,P42892 8 |
| Abnormal peripheral nervous system physiology 0.4161584676669093 1.3438775651410626 0.1789879818711832 1.0 0.6239863971364564 41 Q9Y619,P04792,O95721,P31930,Q9NR77,O95831,Q15120,Q99720,O43681 9 |
| Convex nasal ridge 0.5115607639040799 1.3434500868212411 0.1791262778258864 1.0 0.6239863971364564 15 O96028,Q13363,O75844,P18074,Q6NUK1,Q96J02 6 |
| Fulminant hepatic failure 0.8406589470451441 1.34233644724918 0.179486930852041 1.0 0.6239863971364564 3 Q16836 1 |
| Pericarditis 0.7018683308491611 1.341783122477619 0.1796663261149311 1.0 0.6239863971364564 5 Q9NZ08 1 |
| Abnormality of long bone morphology 0.3576911240141789 1.3397499348187234 0.1803266572693695 1.0 0.6239863971364564 128 Q9Y619,Q9UHX1,P35250,P07237,Q9NR77,P16278,P48735,Q13501,Q14739,O75874,Q8N0X7,Q99519,Q15738,Q13126,O75718,O75844,O96019,Q9Y5S9,O95831,Q96J02,Q9UBM7,Q15056,O75648,Q9UG56,O96028,P22626,Q9Y4P3,Q9Y487 28 |
| Hemianopia 0.6797473959567218 1.336872800074284 0.1812641607397664 1.0 0.6239863971364564 6 P00403,Q9BVA1 2 |
| Difficulty in tongue movements 0.7777324632952557 1.3352105952824354 0.1818074300784919 1.0 0.6239863971364564 2 P10253 1 |
| Fetal distress 0.4796471624545285 1.333908915676756 0.1822337092850021 1.0 0.6239863971364564 20 Q8IUX1,O75306,Q8N183,O43676,Q9P032,Q9Y375 6 |
| Vertebral fusion 0.5845905530909472 1.332592926944969 0.1826654275638652 1.0 0.6239863971364564 9 Q9Y5S9,Q9UHX1,O96028 3 |
| Polydactyly 0.4327215915325791 1.3311443074857685 0.183141532361472 1.0 0.6245451022627531 33 Q9UHX1,P61978,O96028,Q9Y263,Q9UM00,Q15067,Q9BW83,Q9UBM7,Q14739,Q99519 10 |
| Abnormal ilium morphology 0.5250956433250664 1.3299822226540152 0.1835241286396414 1.0 0.6248713835891668 13 P16278 1 |
| Anorexia 0.469408346492479 1.3294697860117342 0.1836930275058532 1.0 0.6248713835891668 22 Q14108,P04062,O15460,Q9NZ08 4 |
| Alveolar ridge overgrowth 0.7761011419249466 1.3282144425127234 0.1841072745553773 1.0 0.6248713835891668 2 Q15392 1 |
| Pathologic fracture 0.5722348073665252 1.3269235901472172 0.1845339599587103 1.0 0.6248713835891668 10 Q14108,Q13126,P04062 3 |
| Multifocal cerebral white matter abnormalities 0.6983087754849129 1.326680489485026 0.1846143976149767 1.0 0.6248713835891668 5 P10253 1 |
| Sudden death 0.4689778456421505 1.3264728321298438 0.1846831282634882 1.0 0.6248713835891668 22 O15460,Q15056,P35250,Q9Y4P3,P40939,P04899 6 |
| Atrophy degeneration involving the corticospinal tracts 0.5406993262709465 1.3250510213601292 0.1851542294461552 1.0 0.625142867817057 12 P35637,Q13501,Q15056,P35250 4 |
| Mutism 0.5162215572476487 1.3229079995521122 0.1858659747237361 1.0 0.6270672816194393 14 P35637,Q13510,Q13501 3 |
| High hypermetropia 0.5822382789832518 1.3208516723281591 0.186550826478357 1.0 0.6272875284412968 9 Q15056,P68371,P35250 3 |
| Thickened ribs 0.8343533251734051 1.317864066674836 0.1875491564850331 1.0 0.6284317569191679 3 P54802,P16278 2 |
| Lewy bodies 0.6960034363941183 1.3168963956699535 0.1878733548278974 1.0 0.6288236376058819 5 P04062 1 |
| Abnormal myocardium morphology 0.3605012910347641 1.3079589547980524 0.1908872313847756 1.0 0.6375122750472586 138 P06280,P35250,Q9H061,P16278,P40939,P48735,Q9Y375,O75306,O43772,P23786,Q99519,Q14108,P18074,P00403,Q16836,P16219,O43676,Q9NZ08,Q15056,P04062,P22626,Q9Y4P3,Q5XKP0,P10253,Q99797 25 |
| Breast carcinoma 0.5134562847998417 1.3065411950332486 0.1913685794332547 1.0 0.6375122750472586 14 P48735 1 |
| Elevated hepatic transaminase 0.3615292621554131 1.306321722596408 0.1914431729594061 1.0 0.6375122750472586 81 Q9Y619,P28070,O43772,O15382,P22695,P23786,Q16836,P20674,P40939,Q5XKP0,Q15067,Q13510,P10253,Q15904,Q14739 15 |
| Abnormal muscle fiber morphology 0.3725164729921685 1.3058986183383945 0.1915870365244456 1.0 0.6375122750472586 55 O75340,Q70HW3,P05067,P61978,Q99720,P23786,P22626,P35637,P00403,O14979,O95831,O43676,Q9H2D1,O75648,Q13642,P31483,Q13501 17 |
| Fatigue 0.368751503512175 1.30458249592995 0.192035051816213 1.0 0.6375122750472586 68 Q9NZ08,O15460,P07737,P06280,Q92804,P04062,P18074,Q15165,P35637,Q14739,Q13501 11 |
| Abnormal talus morphology 0.4838284412830955 1.3036057590310888 0.1923680360854702 1.0 0.6375122750472586 18 Q9UHX1,O75844 2 |
| Depression 0.3597922153044843 1.303027663021643 0.1925653175363186 1.0 0.6375122750472586 83 O15460,Q15056,P07737,P31930,P06280,P04062,Q92804,P35250,P35637,Q15165,P50897,P00403,Q6DKK2,O43681,Q13501 15 |
| Malignant neoplasm of the central nervous system 0.4962354359724958 1.3010894705789258 0.1932278314687174 1.0 0.6380559607543556 16 P48735,O75874 2 |
| Abnormal macrophage morphology 0.671190120125257 1.2999886256876931 0.1936048675998138 1.0 0.6380559607543556 6 Q13510,P16278,Q99519 3 |
| Foam cells 0.671190120125257 1.2999886256876931 0.1936048675998138 1.0 0.6380559607543556 6 Q13510,P16278,Q99519 3 |
| Proptosis 0.4255822615875438 1.2997706172854273 0.1936795988792137 1.0 0.6380559607543556 34 P61978,O75718,Q13409,P16435,O75844,Q13363,P07237,Q6NUK1,O96028,Q969G3,Q96J02,P57081,Q9UBM7,O75431 14 |
| Aplasia hypoplasia of the retina 0.7201470078561492 1.299596347143482 0.1937393523158714 1.0 0.6380559607543556 4 Q99519 1 |
| Enlarged thorax 0.5658145150977647 1.2940354337991824 0.1956531817308846 1.0 0.6406957700439583 10 Q14739 1 |
| Acute coronary syndrome 0.4863774192596123 1.2939417635333872 0.1956855373015393 1.0 0.6406957700439583 17 Q9NZ08,Q15056,P06280,O75844,P35250 5 |
| Adrenocortical abnormality 0.7671288743882574 1.289756870550471 0.1971350869754886 1.0 0.6412409315962306 2 P10644 1 |
| Primary hypercortisolism 0.7671288743882574 1.289756870550471 0.1971350869754886 1.0 0.6412409315962306 2 P10644 1 |
| Hypermetric saccades 0.7667210440456753 1.2880097960119736 0.197742553204665 1.0 0.6412409315962306 2 O14773 1 |
| Hand muscle weakness 0.5756333890596314 1.287847902619315 0.1977989135794149 1.0 0.6412409315962306 9 Q13501,Q9NR77,P31483,Q15120 4 |
| Abnormality of chorioretinal pigmentation 0.6885357377171224 1.285189611832112 0.1987260328478437 1.0 0.6419274611213306 5 Q5XKP0 1 |
| Limited extraocular movements 0.7150866247234934 1.2786048325609949 0.2010362473540072 1.0 0.6441305399140624 4 Q9BVA1 1 |
| Abnormality of temperature regulation 0.3570144730885427 1.2785388614284343 0.2010594914909191 1.0 0.6441305399140624 84 Q9NZ08,O15460,O43772,P28070,P06280,P35270,P23786,P18074,Q9NR77,Q5XKP0,Q13510,P10253,Q14739 13 |
| Optic disc pallor 0.4147260952898414 1.2779089468074998 0.2012815330952437 1.0 0.6441305399140624 38 Q9UG56,Q8WWV3,Q9H061,O95831,O43676,Q9Y375 6 |
| Multiple lipomas 0.7642740619902166 1.277529455154213 0.2014153882225366 1.0 0.6441305399140624 2 O95140 1 |
| Generalized osteosclerosis 0.7642740619901988 1.2775294551541363 0.2014153882225637 1.0 0.6441305399140624 2 Q15392 1 |
| Cutaneous finger syndactyly 0.7642740619901978 1.277529455154133 0.2014153882225648 1.0 0.6441305399140624 2 Q9Y619 1 |
| Incoordination 0.3699166426760063 1.276765333237986 0.2016851079253703 1.0 0.6441305399140624 54 Q9Y619,Q01105,O75340,O95140,P04062,Q9NR77,Q6DKK2,P40939,Q15067,O75503,Q13510,P31483,P37198,O43681,Q13501 15 |
| Abnormal urine cytology 0.4192931292961209 1.275864809708215 0.2020033126238882 1.0 0.6444311515402533 35 Q14108,O15460,P04062,P09601 4 |
| Calvarial skull defect 0.6654851423574173 1.2753764482144114 0.2021760306843361 1.0 0.6444311515402533 6 Q14739 1 |
| Intracranial hemorrhage 0.4663789772291962 1.2752193445445097 0.2022316161740609 1.0 0.6444311515402533 21 P05067,P04062,O75844,P23786,Q02978 5 |
| Glioma 0.5727030292425958 1.2731895502492825 0.2029507877797915 1.0 0.6447258456999404 9 P48735 1 |
| Abnormality of neutrophil morphology 0.6857077714023494 1.2731782435898338 0.2029547990257807 1.0 0.6447258456999404 5 Q14739 1 |
| Progressive visual loss 0.4748570829627156 1.2722448895202063 0.203286122754148 1.0 0.6450032431431828 19 O75306,P50897,Q969G3,O75503,Q99519 5 |
| Microdontia 0.456163960026368 1.2714851281428092 0.2035561148728921 1.0 0.6453969147546967 23 Q9Y619,Q15056,P35250,Q6NUK1,P07237,Q15555,Q9Y4P3,Q9UM00,Q9Y487,P57081 10 |
| Aspiration pneumonia 0.4454681453402788 1.2695521857287135 0.204244190394701 1.0 0.6458593723872329 25 O95721,P04062,Q6NUK1,P16278,Q13510 5 |
| Paroxysmal ventricular tachycardia 0.7601957585644414 1.2600709046880314 0.2076437850630537 1.0 0.6513535186765153 2 P04899 1 |
| Muscle fibrillation 0.5125989930855772 1.257774331040401 0.2084733814234833 1.0 0.6530259524565069 13 Q13510,O95831 2 |
| Abnormal sacrum morphology 0.4432445400472909 1.2531258364653477 0.210159914739038 1.0 0.6546042254974856 25 Q15056,P61978,O96028,P35250,Q03164,Q9Y4P3,Q9UM00,Q14739 8 |
| Abnormal carotid artery morphology 0.5277257978428151 1.253125403190074 0.2101600723957561 1.0 0.6546042254974856 12 Q15056,O75844,P35250 3 |
| Abnormal circulating carboxylic acid concentration 0.3599612277603208 1.2495850506103858 0.2114511669004815 1.0 0.6553884748870965 76 Q9Y619,P41440,O15382,P13804,P05067,Q16134,P22695,P23786,P35270,P20674,Q5XKP0,P48735,Q99797,Q14739 14 |
| Stroke 0.4426471010063916 1.2487093915907164 0.2117713845897504 1.0 0.6553884748870965 25 Q15056,P05067,O95721,P06280,O75844,P35250,P00403 7 |
| Neoplasm of the pituitary gland 0.5035787892978781 1.2479512175078882 0.2120489224635675 1.0 0.6553884748870965 14 P48735 1 |
| Steppage gait 0.4790367548564005 1.2467004394883738 0.2125073576284384 1.0 0.6553884748870965 17 O95140,P04792,Q9NR77,Q15120,Q13642,P31483,Q13501 7 |
| Abnormality of corneal size 0.428294634729021 1.246629842721953 0.2125332540812563 1.0 0.6553884748870965 31 Q15056,O96028,P07437,P35250,P18074,Q15555,Q9NWM8,Q96EK5 8 |
| Arm dystonia 0.7072358980072908 1.246037565818772 0.2127506041060767 1.0 0.6553884748870965 4 P35637 1 |
| Epispadias 0.7069149600810739 1.2447062949024317 0.2132397312221261 1.0 0.6554269153547352 4 P48651,Q9Y619 2 |
| Aplasia hypoplasia of the hallux 0.4779351538008864 1.2395995159339808 0.2151235598001952 1.0 0.6583644286191174 17 Q9UHX1,O96028,Q13363,O96019,O75648 5 |
| Abnormal upper motor neuron morphology 0.5551657275761748 1.239375108472217 0.2152066151852509 1.0 0.6583644286191174 10 P35637,Q13501 2 |
| Thoracic hypoplasia 0.4516130169807716 1.2390759170946626 0.2153173847600511 1.0 0.6583644286191174 23 Q9UHX1,P04062,Q14739 3 |
| Renal cortical cysts 0.6775885886824066 1.2386850232659317 0.2154621672036016 1.0 0.6583644286191174 5 Q16134 1 |
| Posteriorly rotated ears 0.3578157511162058 1.2383792342825493 0.2155754767021291 1.0 0.6583644286191174 78 Q9Y619,Q9UHX1,P35250,Q6NUK1,Q15392,P42892,P07437,P23786,P11233,Q15738,Q9Y5S9,Q9UM00,Q96J02,Q9BW83,Q9UBM7,O43505,Q15056,P04062,O96028,Q9Y263,Q15555,Q9Y4P3 22 |
| Long fingers 0.36486960540093 1.238086638027057 0.2156839378406287 1.0 0.6583644286191174 62 Q15738,Q9UHX1,Q06136,O96028,P07437,P23786,Q9Y263,Q03164,Q15555,Q969G3,Q96EK5,P42892 12 |
| Aplasia hypoplasia of the clavicles 0.5655634682224785 1.2374398358882357 0.2159238373622383 1.0 0.658642160450469 9 Q9Y619,Q15738,O75844,O75431 4 |
| Myoglobinuria 0.5651460414007724 1.235348221448575 0.2167009343396198 1.0 0.6591941076919796 9 Q16836,P40939 2 |
| Shyness 0.7540783034257759 1.2339063313886962 0.2172378099933836 1.0 0.660373081512533 2 Q06787 1 |
| Renal salt wasting 0.7532626427406237 1.2304200651766926 0.2185398433284289 1.0 0.662135724722412 2 Q13423 1 |
| Cavum septum pellucidum 0.613975725913394 1.2282495932505224 0.2193532869225227 1.0 0.6636112093422148 7 Q9Y5S9,O96028,Q9BVA1,Q14738 4 |
| Abnormality of the tongue 0.3618683885003935 1.2267160991387445 0.2199293146352852 1.0 0.6640992009954811 68 O15460,Q15056,P10253,O75844,P35250,Q6NUK1,Q9Y4P3,Q969G3,P16278,O95831,O75648,Q13510,Q9UBM7,O75431,Q99519 15 |
| Mediastinal lymphadenopathy 0.7023401686086295 1.2257313187969725 0.2202998003875289 1.0 0.6640992009954811 4 O15460 1 |
| Hip pain 0.6738603953308259 1.2228442057550242 0.2213885453405617 1.0 0.6649000356408692 5 O75844,P22626 2 |
| Adipose tissue loss 0.5621128189366575 1.2201452170593778 0.2224098299719319 1.0 0.6665492083958444 9 P18074,O75844 2 |
| Abnormality of facial musculature 0.3645007115213657 1.219735262200894 0.2225652495801553 1.0 0.6665492083958444 55 Q9BUF5,Q9UHX1,P04062,P35270,Q14738,P16219,Q969G3,Q13510,P10253,Q13501 10 |
| Death in infancy 0.4000956536596587 1.2191963956252052 0.2227696596656587 1.0 0.6665492083958444 42 Q4G0N4,O75718,P04062,O43464,Q6NUK1,Q9BZH6,P18074,Q9Y5S9,P20674,P16278,Q15067,Q9H0R6,Q00059,Q15904 14 |
| Aplasia hypoplasia involving the pelvis 0.5506465658824506 1.216142115918084 0.2239307893726068 1.0 0.6673654911641459 10 Q15738,O96028,O95831,O75431 4 |
| Ulnar claw 0.8069175961964854 1.211515946528954 0.2256977268175339 1.0 0.670748952363444 3 P04792 1 |
| Abnormal foveal morphology 0.6987700795790202 1.210926359940165 0.2259236289599693 1.0 0.670748952363444 4 Q99519 1 |
| Abnormality of coagulation 0.3919305338953949 1.2101846800214402 0.2262080353306952 1.0 0.670748952363444 45 Q9Y619,Q9Y487,O75340,O75874,Q9Y5S9,Q16836,P40939,Q5XKP0,P48735,O75648 10 |
| Abnormal meningeal morphology 0.4896340295135032 1.209953280468914 0.226296820627601 1.0 0.670748952363444 15 Q9UHX1,Q15904 2 |
| Abnormal circulating pyruvate family amino acid concentration 0.4971378686037179 1.2096485284181857 0.2264137883514858 1.0 0.670748952363444 14 Q8IUX1,P22695,P20674,O75880,Q5XKP0,Q99797 6 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4971378686037179 1.2096485284181857 0.2264137883514858 1.0 0.670748952363444 14 Q8IUX1,P22695,P20674,O75880,Q5XKP0,Q99797 6 |
| Abnormal temper tantrums 0.5596277555880791 1.207684345944635 0.2271687015977188 1.0 0.6720850616499735 9 P04062,Q9BVA1 2 |
| Conspicuously happy disposition 0.7471451876019564 1.204292812129701 0.2284764238833068 1.0 0.6722815022448829 2 P55795 1 |
| Medial flaring of the eyebrow 0.7471451876019445 1.2042928121296492 0.2284764238833267 1.0 0.6722815022448829 2 Q9BW83 1 |
| Preaxial polydactyly 0.6084849624368119 1.20304146098563 0.2289602765973653 1.0 0.6722815022448829 7 Q9UHX1 1 |
| Perseveration 0.5689607279646587 1.2020343120306785 0.229350234496851 1.0 0.6722815022448829 8 P35637,Q13501 2 |
| Hirsutism 0.3764787154713349 1.1999524020223034 0.2301578266983777 1.0 0.6722815022448829 50 Q13155,Q06136,P07437,Q6NUK1,Q9Y263,P54802,Q15555,Q03164,P16278,Q969G3,P10644,Q9BW83 12 |
| Impaired social interactions 0.4102659892649843 1.199780180932757 0.2302247232984575 1.0 0.6722815022448829 35 Q8IUX1,O75306,Q9UHX1,Q8N183,Q9NPL8,O43464,O43676,Q15067,Q5XKP0,Q9P032,Q9Y375 11 |
| Oculomotor apraxia 0.4505397891712558 1.1975513616453546 0.2310917208726468 1.0 0.6722815022448829 22 Q9Y3C8,P05067,Q9NQT5,Q96GM8,P04062,P35270,Q10713,O14773,Q13501 9 |
| Axial dystonia 0.8032942196497872 1.1974975693749006 0.2311126743792009 1.0 0.6722815022448829 3 P35637 1 |
| Weakness of muscles of respiration 0.433637374697399 1.1959002670990388 0.231735480925167 1.0 0.6733803775518796 26 O95140,P22626,Q13642,P09651,O95831,Q15067,Q13510,P10253 8 |
| Wide intermamillary distance 0.4791729209222846 1.1941787142351947 0.2324080676072204 1.0 0.6745018917498268 16 P61978,P23786,P07437,Q15555,Q9UM00,Q9UBM7,Q96EK5 7 |
| Abnormality of circulating leptin level 0.6944832933005818 1.1931538851610457 0.232809111215078 1.0 0.6752227533798626 4 O75844 1 |
| Anonychia 0.5555582142311237 1.187269187262954 0.2351214579309424 1.0 0.6798534646829184 9 Q14739 1 |
| Hyperkeratosis 0.3894828179700018 1.1870197380307217 0.2352198350332919 1.0 0.6798534646829184 45 Q06136,O95721,P06280,O75844,P04062,Q9NWM8,Q99519 7 |
| Abnormality of circulating enzyme level 0.35286039712361 1.1867456068152695 0.2353279797489369 1.0 0.6798534646829184 79 P35250,P40939,Q15120,Q5JRX3,P31483,Q13501,Q6ZXV5,O43772,Q8NFF5,P23786,Q9NWM8,O75340,Q16836,O95831,O43505,Q15056,P22626,Q13642,Q9Y4P3,O14979,O75648,Q9H0R6,P10253 23 |
| Abnormality of the proximal phalanx of the thumb 0.7426590538336041 1.1851571741793512 0.235955308912874 1.0 0.6803326801314485 2 Q15233 1 |
| Symphalangism of middle phalanx of finger 0.7426590538336041 1.1851571741793512 0.235955308912874 1.0 0.6803326801314485 2 Q15233 1 |
| Splenomegaly 0.3538703328620921 1.184572975967121 0.2361863270815676 1.0 0.6805551300858459 77 Q14108,Q9NZ08,P28070,Q99519,P04062,Q15392,P16278,Q13510,P10253,Q15904,Q14739 11 |
| Parkinsonism 0.4437243785431726 1.1827470552738255 0.2369094092138999 1.0 0.6811299399076585 23 P05067,P31930,P04062,P35637,Q99720,Q13501 6 |
| Paresthesia 0.4528437628766071 1.182014526699856 0.2371999368886772 1.0 0.6811299399076585 21 Q9NZ08,O15460,O95140,P05067,P06280,Q9NR77 6 |
| Increased adipose tissue 0.6914489309169836 1.1805776395112813 0.2377705508130814 1.0 0.682009822468391 4 P31751 1 |
| Spina bifida occulta 0.4920452041078029 1.1793164419666529 0.2382721935288367 1.0 0.6825634144935525 14 P35250,Q9UHX1,Q15056 3 |
| Telangiectasia 0.4270036110133355 1.1773307773178558 0.2390635071842435 1.0 0.6839443028951546 28 O75306,P06280,P10619,Q14739,Q99519 5 |
| Telangiectasia of the skin 0.4840048318782443 1.175529085887545 0.2397831076817704 1.0 0.6842370772660326 15 P06280,Q14739 2 |
| Poor eye contact 0.4217804705946399 1.173788634909111 0.2404796973441925 1.0 0.6842370772660326 30 O43676,Q5XKP0,Q9UHX1,Q9Y375 4 |
| Episodic vomiting 0.562887349596625 1.1723120445854782 0.2410717976199055 1.0 0.6842370772660326 8 Q9Y619,P00403,P22695 3 |
| Sound sensitivity 0.5626143631669958 1.1709757014440434 0.2416085442487263 1.0 0.6842370772660326 8 P17900,Q15056,P35250 3 |
| Hyperacusis 0.5626143631669958 1.1709757014440434 0.2416085442487263 1.0 0.6842370772660326 8 P17900,Q15056,P35250 3 |
| Retinal vascular tortuosity 0.527497560124853 1.1698592043130909 0.2420576335068629 1.0 0.6842370772660326 11 O75306,Q15056,P35250,Q9Y4P3,Q8WYQ5 5 |
| High myopia 0.5623709394005105 1.1697840514727025 0.2420878833572515 1.0 0.6842370772660326 8 O15460 1 |
| Shawl scrotum 0.6886171257982563 1.1688443677282878 0.2424663410070406 1.0 0.6842370772660326 4 Q9Y619,Q9UM00 2 |
| Cholestasis 0.359412640746683 1.1687703330039114 0.2424961761671595 1.0 0.6842370772660326 58 P61916,P13804,Q16134,P00374,P40939,Q13510,Q9UBM7,Q15904,Q14739 9 |
| Pigmentary retinopathy 0.4051775635003444 1.1681328601639855 0.2427531773683682 1.0 0.6842370772660326 36 O75306,Q9UG56,P00403,Q16836,P40939,Q15067,Q9BW83 7 |
| Areflexia of lower limbs 0.4550460744237222 1.1675852521070214 0.2429741018809053 1.0 0.6842370772660326 20 P04792,Q15041,Q9NR77,Q15067,Q15120,Q13501 6 |
| Cold induced muscle cramps 0.7952988412716396 1.1665968061547871 0.2433732337620759 1.0 0.6842370772660326 3 Q9NR77 1 |
| Sparse eyelashes 0.4825327457825441 1.1665184848115029 0.2434048794034762 1.0 0.6842370772660326 15 P48449 1 |
| Hyperextensible skin 0.5120512108633413 1.1659067840638495 0.2436521358114405 1.0 0.6842370772660326 12 Q9UHX1,P04062 2 |
| Submucous cleft of soft and hard palate 0.4588250770689551 1.165423214521943 0.2438477249721213 1.0 0.6843518322028508 19 Q9Y619,O43505,O75844,Q14738,Q15392,Q8WYQ5 6 |
| Short long bone 0.4456869644210503 1.163455874474432 0.2446445910708159 1.0 0.6861528384947488 22 Q9UHX1 1 |
| Exodeviation 0.4736073134130703 1.159179355884507 0.246383084471373 1.0 0.6880211864997545 16 Q9UHX1 1 |
| Abnormality of the gallbladder 0.4235857910837913 1.151011743002004 0.2497274045153461 1.0 0.6912277998506653 28 Q15056,P04062,O96028,P35250,Q9UBM7,O43681 6 |
| Scotoma 0.5239477300823159 1.1508536969155536 0.2497924295446276 1.0 0.6912277998506653 11 Q9H061,Q8WWV3 2 |
| Aplasia hypoplasia affecting the fundus 0.4524923500123154 1.1502316057743085 0.2500484919197523 1.0 0.6912277998506653 20 Q86YV9,Q9UHX1,O95721,P61978,Q9BZH6,Q99519 6 |
| Aortic regurgitation 0.4436044141711415 1.1488061125533369 0.2506359383290126 1.0 0.6919309713568647 22 Q9UHX1,O75844 2 |
| Glycosuria 0.5580740839439212 1.1487460463933985 0.2506607127578855 1.0 0.6919309713568647 8 Q16134 1 |
| Abnormal macular morphology 0.4271744187074901 1.1473391082982818 0.2512414967214842 1.0 0.6919309713568647 26 Q86YV9,P04062,P18074,P50897,Q9UM00,Q13510,Q99519 7 |
| Myoclonic seizure 0.3919965638624561 1.1452529373184666 0.2521043951738091 1.0 0.6922841768357808 42 Q9Y619,P04062,Q8WWV3,P16278,Q5XKP0,O75503,Q13510 7 |
| Bilateral microphthalmos 0.6555785233866579 1.1451864862836938 0.2521319150884267 1.0 0.6922841768357808 5 Q9UHX1 1 |
| Abnormality of cardiovascular system electrophysiology 0.3493669672979834 1.14492907550464 0.2522385385053303 1.0 0.6922841768357808 79 O15460,O43772,O75306,Q15056,Q8NFF5,P06280,P04062,P23786,P35250,O43464,P00403,Q16836,Q9Y4P3,P40939,P10253,P42892,Q99519 17 |
| Delusions 0.4788763693317482 1.1441243054696977 0.2525720890956051 1.0 0.6922841768357808 15 P04062,O43681,Q9BQE5 3 |
| Abnormal connection of the cardiac segments 0.3958016622290091 1.143546241192135 0.2528118672537316 1.0 0.6922841768357808 40 O15460,Q9UHX1,Q15056,O75844,P35250,Q9Y5S9,Q9Y4P3,Q969G3,Q8WYQ5 9 |
| Astrocytoma 0.6349482275942333 1.1434789243378256 0.2528398002534291 1.0 0.6922841768357808 6 P48735 1 |
| Macroglossia 0.4246812417152171 1.1432496874917717 0.2529349377722409 1.0 0.6922841768357808 27 Q15056,P35250,Q9Y4P3,P16278,P10253 5 |
| Arterial thrombosis 0.63460975351874 1.142016735623692 0.2534470633195691 1.0 0.6932568714053521 6 Q9NZ08 1 |
| Coronal craniosynostosis 0.7874337005304004 1.136250273504039 0.2558518356421966 1.0 0.6982387500596825 3 Q6NUK1,P07237 2 |
| Muscle weakness 0.3764045923677223 1.1335521326148692 0.2569824615053977 1.0 0.6982387500596825 222 Q8N183,Q9UHX1,P04792,O95721,Q92804,Q6NUK1,P09651,Q9NR77,P40939,Q15120,P10644,P31483,P37198,Q9Y375,Q14739,Q13501,O75306,O43772,P07737,P48651,Q16134,Q8NFF5,P23786,Q9BZH6,Q15165,Q96BR5,Q969G3,Q9NWM8,Q13510,Q99720,Q9Y3E5,Q8N0X7,Q99519,P41440,Q9BUF5,P13804,O75340,Q8IUX1,Q13126,P00374,P00403,P16219,O95831,O43676,Q15067,Q6DKK2,Q70HW3,O43505,P17900,O15460,O95140,Q96GM8,P61978,P35270,P22626,P35637,Q9Y263,Q9P032,Q5XKP0,O14979,O75648,Q13642,P10253,O43681 64 |
| Diaphyseal thickening 0.7866177070583519 1.133105145103941 0.2571701009741707 1.0 0.6982387500596825 3 P48651,Q14739 2 |
| Positive romberg sign 0.5548561665548142 1.1329875029807064 0.2572195013890934 1.0 0.6982387500596825 8 P41440,Q8IV08,O95140,P18887 4 |
| Abnormality of the alveolar ridges 0.6799109594505631 1.1327974877567026 0.2572993067067899 1.0 0.6982387500596825 4 Q9UBM7 1 |
| Nevus 0.4319053223008899 1.1322536178575653 0.2575278239452241 1.0 0.6982387500596825 24 Q9UHX1,Q15056,P35250,Q6NUK1,P18074,Q9Y5S9,Q9Y4P3 7 |
| Pectus excavatum 0.3559275907397593 1.1306051790133331 0.258221306719933 1.0 0.6982387500596825 58 Q9UHX1,Q15056,P61978,O75718,P04062,P07437,P35250,Q03164,Q15555,Q9Y4P3,Q96J02,Q9Y487,O75431 13 |
| Abnormality of abdominal situs 0.7858869054258644 1.1302889327205998 0.2583544964552358 1.0 0.6982387500596825 3 O96028 1 |
| Aplasia hypoplasia of the pubic bone 0.7858869054258644 1.1302889327205998 0.2583544964552358 1.0 0.6982387500596825 3 O96028 1 |
| Rib segmentation abnormalities 0.7858869054258644 1.1302889327205998 0.2583544964552358 1.0 0.6982387500596825 3 O96028 1 |
| Hypoplastic pubic rami 0.7858869054258644 1.1302889327205998 0.2583544964552358 1.0 0.6982387500596825 3 O96028 1 |
| Preaxial foot polydactyly 0.7858869054258644 1.1302889327205998 0.2583544964552358 1.0 0.6982387500596825 3 O96028 1 |
| Craniofacial asymmetry 0.7858869054258644 1.1302889327205998 0.2583544964552358 1.0 0.6982387500596825 3 O96028 1 |
| Abnormal corpus striatum morphology 0.4905465876995732 1.1297453145858063 0.2585835569970065 1.0 0.6982387500596825 13 O75306,O95831,Q9BVA1 3 |
| Absent toe 0.4532500227992648 1.1281416827482484 0.2592600879489031 1.0 0.6985758834775495 19 Q9UHX1,O96028,Q13363,O96019,O75648 5 |
| Hypoplasia of the iris 0.6786074243633835 1.1274043738630883 0.2595715506426155 1.0 0.6985758834775495 4 O96028,Q13363 2 |
| Rieger anomaly 0.6786074243633835 1.1274043738630883 0.2595715506426155 1.0 0.6985758834775495 4 O96028,Q13363 2 |
| Dysphonia 0.4204435323061585 1.1267831634037035 0.2598341707156619 1.0 0.6986301137236309 28 Q15056,P35250,Q02978,P18074,Q9Y4P3,Q13510,Q6DKK2,Q99519 8 |
| Occipital encephalocele 0.7841697266421914 1.1236737392442058 0.261151460947671 1.0 0.7000392266821801 3 O43505,Q6ZXV5 2 |
| Inguinal hernia 0.3548622486552666 1.1224558188310485 0.261668682604089 1.0 0.7000392266821801 60 Q9UHX1,Q15056,P07437,P35250,Q15555,P16278,Q9NWM8,Q9Y487,Q8WYQ5,Q99519 10 |
| Slow decrease in visual acuity 0.6300602196077232 1.1223653862980434 0.261707115353605 1.0 0.7000392266821801 6 O75306,Q969G3 2 |
| Genu valgum 0.4305272398025501 1.1221875624798772 0.2617826997359995 1.0 0.7000392266821801 24 Q9Y619,Q15056,P35250,Q9NR77,Q9Y4P3,P16278,Q8N0X7 7 |
| Low set posteriorly rotated ears 0.3587018802588308 1.1185239712694033 0.263343274417938 1.0 0.7030775510376895 53 Q8NCH0,P16435,P35250,Q6NUK1,Q10713,Q15392,P08754,P07437,Q13363,Q9Y5S9,Q9UM00,Q96J02,P37268,Q9BW83,Q9UBM7,Q15056,O96028,P04062,Q9Y263,Q15555,Q9Y4P3 21 |
| Abnormal circulating carbohydrate concentration 0.4095455852309864 1.1180930233920257 0.2635272657872003 1.0 0.7030775510376895 32 Q8IUX1,O75306,Q8N183,Q9NPL8,P22695,O95831,O43676,Q5JRX3,Q9P032,Q9Y375,Q70HW3 11 |
| Osteolysis involving bones of the feet 0.7816949943498896 1.114145570173272 0.2652167415491651 1.0 0.7043358179211672 3 O75844 1 |
| Abnormality of the distal phalanges of the toes 0.7816949943498896 1.114145570173272 0.2652167415491651 1.0 0.7043358179211672 3 O75844 1 |
| Foot acroosteolysis 0.7816949943498896 1.114145570173272 0.2652167415491651 1.0 0.7043358179211672 3 O75844 1 |
| Temporal pattern 0.6482181583292601 1.1139506570199629 0.2653003555633426 1.0 0.7043358179211672 5 P04062 1 |
| Endocarditis 0.6477565042534428 1.1119924215003292 0.2661414088033524 1.0 0.7052080518840061 5 Q9NZ08 1 |
| Generalized joint laxity 0.5163687961215836 1.1102508677980047 0.266890938507381 1.0 0.7052080518840061 11 Q9UHX1 1 |
| Impaired mastication 0.6267758754060881 1.1081825095593876 0.2677830028895793 1.0 0.7052080518840061 6 O15460 1 |
| Abnormal size of the palpebral fissures 0.3506379039203443 1.1072802354718645 0.2681727868346306 1.0 0.7052080518840061 70 Q9Y619,Q9UHX1,Q15056,P38159,O75844,P07437,P35250,Q6NUK1,O96019,Q03164,O60701,Q15555,Q9Y4P3,O75648,Q8WYQ5 15 |
| Lissencephaly 0.3857138279422957 1.1072495463144918 0.2681860514539655 1.0 0.7052080518840061 43 Q15738,Q6ZXV5,P13804,Q9BVA1,O95721,Q16134,Q86XL3,P23786,Q9Y487,Q15392,Q96EK5 11 |
| Elevated circulating growth hormone concentration 0.724306688417621 1.1071418650389264 0.2682325975527793 1.0 0.7052080518840061 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.724306688417621 1.1071418650389264 0.2682325975527793 1.0 0.7052080518840061 2 P10644 1 |
| Diaphragmatic weakness 0.7795016002883941 1.1057061542051128 0.2688537254300061 1.0 0.705721084615381 3 P10253 1 |
| Obsessive compulsive trait 0.6724882870687624 1.1021045283063513 0.2704162309670526 1.0 0.7085610127768208 4 O75503,Q06787 2 |
| Morphological abnormality of the corticospinal tract 0.4780566761258855 1.095830536579971 0.2731529423118894 1.0 0.7110979775429589 14 P35637,Q13501,Q15056,P35250 4 |
| Abnormality of the lymphatic system 0.3364441669831104 1.0948548074278288 0.2735802506733449 1.0 0.7117914404283555 122 Q14108,Q9NZ08,O15460,P28070,Q99519,O75874,P04062,Q15392,Q01844,P10619,P16278,P48735,Q13510,P10253,Q15904,Q14739 16 |
| Abnormality of epiphysis morphology 0.3898230812062308 1.0900208522328776 0.2757039587279017 1.0 0.7165882975919663 40 Q9Y619,Q9UG56,O95831,P16278,Q9UBM7,Q14739,Q99519 7 |
| Vasculitis 0.5459193150805114 1.0892175570138385 0.276057958382832 1.0 0.7165882975919663 8 Q9NZ08 1 |
| Abnormal tongue physiology 0.483579379573875 1.0891857067111566 0.276072000700138 1.0 0.7165882975919663 13 Q13510,O95831 2 |
| Shallow orbits 0.5455984824075927 1.087646278242695 0.2767512922939881 1.0 0.7177788069571238 8 O75844,O75431,P07237 3 |
| Abnormal thrombosis 0.4346564383703143 1.085753388398864 0.2775881134446938 1.0 0.7177788069571238 22 P48735,O75874,Q9NZ08 3 |
| Bladder diverticulum 0.5451243234748315 1.0853241119476618 0.2777781302618218 1.0 0.7177788069571238 8 Q9NWM8,Q15056,P35250 3 |
| Bradykinesia 0.4467315109022652 1.0844813328461975 0.2781514392932562 1.0 0.7177788069571238 19 P31930,P04062,P35270,O43464,Q96IX5,P12235,Q6DKK2 7 |
| Nonketotic hypoglycemia 0.6409178855542235 1.0830003328722348 0.2788082752904608 1.0 0.7177788069571238 5 P23786 1 |
| Keratitis 0.5112013524365463 1.082553580934881 0.2790066205347212 1.0 0.7177788069571238 11 Q9NZ08,Q14739 2 |
| Paraplegia paraparesis 0.3501359291081884 1.0794723885139637 0.2803771962054362 1.0 0.7197378635035662 64 Q9Y619,O75306,P04062,P18074,P35637,O95831,Q5XKP0,Q13510,Q6DKK2,Q13501 10 |
| Lower limb muscle weakness 0.404679895173904 1.0784905649322514 0.2808148900936063 1.0 0.7204433056171813 32 P04792,O95140,Q9NR77,P40939,Q969G3,Q15120,Q13510,P37198,Q8N0X7 9 |
| Abnormal upper limb bone morphology 0.3481024723667369 1.0780246058987104 0.2810227754295049 1.0 0.7205586873766379 70 Q9UHX1,P16435,P08236,P35250,Q6NUK1,P16278,P10644,Q14739,P98175,P48651,O00116,O75844,Q13363,O96019,Q9Y5S9,P55011,Q9UBM7,O75431,Q15056,O96028,Q9Y4P3,O75648,Q96AY3 23 |
| Alopecia 0.3957662077229384 1.0768595976343682 0.2815429952088941 1.0 0.7207797496663775 35 P48449,O75844,Q06136 3 |
| Abnormality of bone mineral density 0.3298955490098089 1.0765925662154596 0.2816623267221263 1.0 0.7207797496663775 113 P06280,P35250,P16278,Q15392,Q9Y375,Q13501,Q14739,Q9NWM8,Q13510,Q14108,Q13126,O75718,O75844,P18074,O95831,Q15056,P04062,O96028,P51809,Q9Y487 20 |
| Horizontal nystagmus 0.4455218705883768 1.0763721822889707 0.2817608381580752 1.0 0.7207797496663775 19 P04062,Q9H061,O95831 3 |
| Overlapping toe 0.4603576924582185 1.0756732350313047 0.2820734216167238 1.0 0.7211622796594042 16 Q9UHX1 1 |
| Mandibular prognathia 0.4155434260741263 1.0735515935194944 0.2830237029889249 1.0 0.7218246993898492 27 Q9UHX1 1 |
| Insulin resistant diabetes mellitus 0.542396896130434 1.0719675231365862 0.2837346195959114 1.0 0.7225655577217525 8 P31751,O75844 2 |
| Thin skin 0.428226515396424 1.0716177035305725 0.2838917783638839 1.0 0.7225655577217525 23 Q9Y619,Q6ZXV5,Q13126,O75844,P18074,P10644,O75431 7 |
| Abnormality of the calcaneus 0.6182001796860638 1.0711709181823057 0.2840925853217562 1.0 0.7225655577217525 6 Q14739 1 |
| Neoplasm of the breast 0.4440162285332996 1.0662759764041712 0.2862989059801506 1.0 0.7235688329154765 19 P48735 1 |
| Myopathy 0.3433802102552751 1.0662754384156576 0.2862991491047131 1.0 0.7235688329154765 78 P35250,P09651,P40939,P31483,Q9Y375,Q13501,O75306,Q8NFF5,P23786,Q9NWM8,O75340,Q13126,P00403,P16219,O43676,Q15056,P22626,Q9Y4P3,O14979,O75648,Q13642,Q9P032 22 |
| Abnormality of the chin 0.3500054758191026 1.0643665059395195 0.287162700773907 1.0 0.7244380482822199 57 Q13155,Q9UHX1,Q15056,P48651,Q9UQR1,O75844,P35250,Q6NUK1,O60701,Q9Y4P3,P16278,P11233,P10644,P55011,Q06787,Q96EK5,Q96J02 17 |
| Distal peripheral sensory neuropathy 0.7677495793046254 1.060586898938211 0.2888776790075087 1.0 0.7251993661922895 3 P40939 1 |
| Abnormal qt interval 0.5774348967428528 1.0604298385360411 0.2889490934486631 1.0 0.7251993661922895 7 Q16836 1 |
| Ketotic hypoglycemia 0.76729185867058 1.058833235314801 0.2896757346541272 1.0 0.7251993661922895 3 P16219 1 |
| Abnormal renal insterstitial morphology 0.5299554913885965 1.0586894822009487 0.2897412194624071 1.0 0.7251993661922895 9 Q15056,P23786,P35250 3 |
| Keratoconjunctivitis 0.5198592682324223 1.0575312586942776 0.2902691963590902 1.0 0.7251993661922895 10 Q9NZ08,Q14739 2 |
| Hamartoma 0.4569410293126363 1.054107724636704 0.2918335999692765 1.0 0.7255649312333389 16 P48735 1 |
| Abnormality of toe 0.3351150733303419 1.0535420903413892 0.2920926141803053 1.0 0.7256043180493575 125 Q9UHX1,P04792,P21964,P35250,Q9NR77,P10644,Q14739,Q96C86,P23786,Q96BR5,P11233,Q969G3,Q13510,Q99720,Q9Y3E5,Q8N0X7,Q15738,O75844,Q13363,O96019,Q9UM00,Q96J02,P55011,Q9UBM7,O75431,Q15056,O95140,P61978,P04062,O96028,Q14738,Q9Y263,Q03164,Q9Y4P3,O75648,Q13642 36 |
| Abnormal tongue morphology 0.34908461224639 1.05335668769623 0.2921775470146746 1.0 0.7256043180493575 56 O15460,Q15056,P10253,O75844,P35250,Q9Y4P3,P16278,O75648,Q9UBM7,Q99519 10 |
| Apraxia 0.3490642783868223 1.0520271133611765 0.2927871102284898 1.0 0.7262079043660925 54 Q9Y619,Q9BVA1,P05067,Q96GM8,P04062,P35270,P35637,O75648,Q6DKK2,Q8N0X7,Q13501 11 |
| Prominent superficial blood vessels 0.5186874154857735 1.051490138574874 0.2930335362136878 1.0 0.7262079043660925 10 Q6NUK1,Q9Y487,O75844 3 |
| Corneal ulceration 0.632712788498503 1.0482625863146064 0.2945176421670066 1.0 0.7285523105730818 5 O75844 1 |
| Peptic ulcer 0.5046586406730528 1.047478807188844 0.2948788015642973 1.0 0.7290379761424747 11 Q15056,P04062,P35250 3 |
| Limb muscle weakness 0.3471388794087525 1.0407811057405023 0.2979771510108271 1.0 0.7293647718930106 62 Q13501,P04792,O95140,Q13126,Q99720,Q9NR77,P40939,Q969G3,Q15120,Q15067,Q13510,P31483,P37198,Q8N0X7,Q14739 15 |
| Hypokinesia 0.5355315572309189 1.0383572192702633 0.2991037787584452 1.0 0.7293647718930106 8 O95831 1 |
| Muscle abnormality related to mitochondrial dysfunction 0.4046060308480467 1.037756906423145 0.2993832441177557 1.0 0.7293647718930106 30 Q8IUX1,O75306,Q8N183,Q9NPL8,P00403,Q9P032,O43676,O75648,P12235,Q9UBX3,Q9Y375 11 |
| Insulin resistance 0.4542006789624955 1.0368045570566478 0.2998269513424514 1.0 0.7293647718930106 16 P31751,O95140,O75431,O75844 4 |
| Limb girdle muscular dystrophy 0.5345484633322973 1.0335460312226925 0.3013484405988831 1.0 0.7293647718930106 8 Q13642,O14979 2 |
| Polycystic kidney dysplasia 0.4738909063097897 1.0327413205313916 0.3017249709074363 1.0 0.7293647718930106 13 Q16134,P23786 2 |
| Ectopia pupillae 0.6281532577919882 1.028986577253383 0.3034859824049307 1.0 0.731110294214057 5 O96028,Q13363 2 |
| Ventricular preexcitation 0.6277981807593861 1.0274863787439492 0.3041914961425931 1.0 0.7316575295928321 5 O75306,P10253 2 |
| Abnormality of the autonomic nervous system 0.3840979939215309 1.0237195396666694 0.3059677634990443 1.0 0.7335258281636907 39 P41440,P06280,P04062,Q15067,O43681,Q9UBM7,Q96EK5,P42892 8 |
| Myositis 0.5228796583437427 1.023158057810635 0.3062331201094181 1.0 0.7337319015406049 9 Q9NZ08,P28070 2 |
| Emg neuropathic changes 0.4371115902986187 1.0199435688422438 0.3077552247769008 1.0 0.7357292330550503 19 O95140,P04792,P22626,Q9NR77,Q13510,O43681 6 |
| Abnormal synaptic transmission at the neuromuscular junction 0.41653897074379 1.0197871441845918 0.30782942153427 1.0 0.7357292330550503 24 O75340,P07737,Q96GM8,Q92804,P35637,Q15165,Q13501 7 |
| Impaired vibration sensation in the lower limbs 0.4993076547808404 1.0187953816993829 0.3083001187145848 1.0 0.7357292330550503 11 Q9NR77 1 |
| Dysmetria 0.3740376790991243 1.01857600792747 0.3084042992561964 1.0 0.7357292330550503 44 Q99519,P41440,Q15056,Q8N183,Q9NPL8,Q8IV08,P35250,Q10713,Q96BR5,Q9Y4P3,Q06787,Q5JRX3,O75503,O14773,Q9Y3E5,Q6DKK2,Q8N0X7,Q13501 18 |
| Basal ganglia gliosis 0.60594872205748 1.0183753299040217 0.308499621582166 1.0 0.7357292330550503 6 O75306 1 |
| Periauricular skin pits 0.5312428337628999 1.0173726522976778 0.3089761866297209 1.0 0.7360228431038262 8 O96028,Q13363,P61978 3 |
| Aplasia hypoplasia involving the skeletal musculature 0.5216026728064427 1.0167480955442385 0.3092732795490174 1.0 0.7362302020695931 9 Q9Y487,Q9NR77,Q9Y5S9 3 |
| Slowly progressive 0.3665680776286613 1.0153877811698864 0.3099210152419074 1.0 0.7373752826331126 47 P41440,O75340,P04792,O00584,Q8IV08,Q99720,Q9NR77,O14979,O95831,Q15120,P31483 11 |
| Abnormality of subcutaneous fat tissue 0.4849936138710955 1.0148990186694318 0.3101539660422192 1.0 0.7375327912928686 12 Q6NUK1,Q9Y487,O75844 3 |
| Progressive spastic quadriplegia 0.5669896772825365 1.0125255539429945 0.3112868348139455 1.0 0.7391789410614645 7 Q9Y263,P17900,O43681 3 |
| Increased circulating antibody level 0.4979494675273402 1.0115162386898704 0.3117694129819088 1.0 0.7391789410614645 11 Q14108,P04062 2 |
| Gliosis 0.3931614173998875 1.0060107596757262 0.3144103942794582 1.0 0.7424902893481717 33 O75306,P13804,Q16134,P04062,P35637,Q13501 6 |
| Upper limb spasticity 0.6030700228388941 1.0059886044944368 0.3144210517633112 1.0 0.7424902893481717 6 P35637,Q99720 2 |
| Calvarial hyperostosis 0.6485191498410751 1.0033665800902205 0.3156840226732522 1.0 0.7433765710673224 4 P09651,P22626 2 |
| Cerebral hemorrhage 0.4962708104392304 1.0025206066223369 0.3160922191907915 1.0 0.7433765710673224 11 Q02978,P23786,P05067 3 |
| Difficulty walking 0.3444087132224147 1.0017236716491638 0.3164770706126538 1.0 0.7433765710673224 55 O75340,O43681,P04792,O95140,Q15041,Q99720,P35637,Q9NR77,Q969G3,Q15067,Q15120,Q13510,P31483,Q8N0X7,Q13501 15 |
| Absence of subcutaneous fat 0.6019257943488793 1.0010674490092266 0.316794200755472 1.0 0.7437265127077775 6 O75844 1 |
| Abnormal blistering of the skin 0.437519231338482 0.9991703021789048 0.3177121996009773 1.0 0.7446958446397046 18 Q06136 1 |
| Decreased adipose tissue 0.4679852569364824 0.9983283719326392 0.3181201541203409 1.0 0.7451160174697331 13 P18074,Q6NUK1,O75844 3 |
| Infantile muscular hypotonia 0.3594594887866287 0.9977577312224284 0.3183968512362187 1.0 0.7451160174697331 49 P17900,O75306,Q9BVA1,P16219,Q969G3,P16278,Q9Y487,Q13510,P10253,P37198,Q99519 11 |
| Turricephaly 0.5625949542099816 0.9923964888719438 0.3210041510668091 1.0 0.749235546263059 7 Q6NUK1,Q13642,P21964,P07237 4 |
| Myalgia 0.3846343969407508 0.9917251664874288 0.3213316110240272 1.0 0.749604280358266 36 Q9NZ08,O15460,P06280,P40939,Q14739 5 |
| Abnormality of the neck 0.3308521154220459 0.9870314499637396 0.3236272210482764 1.0 0.7521824480801507 126 Q9UHX1,P35250,P16278,Q13501,Q14739,P07437,Q99720,O75844,P18074,O95831,Q9BW83,Q9UBM7,Q96EK5,Q15056,O96028,Q14738,P35637,Q03164,Q15555,Q9Y487 20 |
| Atlantoaxial abnormality 0.7480491585451999 0.9854030604129836 0.3244261269804165 1.0 0.7536432561104949 3 Q9NWM8 1 |
| Hernia 0.319016597884873 0.9835061483021842 0.3253583908038147 1.0 0.7552926608586517 101 Q9UHX1,P35250,Q6NUK1,P16278,Q14739,Q6ZXV5,P07437,Q969G3,Q9NWM8,Q8WYQ5,Q99519,Q15738,P18074,Q9UBM7,Q15056,O96028,Q15555,Q9Y4P3,Q9Y487 19 |
| Lymphedema 0.492276231783214 0.9811203408521536 0.3265334007405072 1.0 0.7565517189498498 11 Q14739 1 |
| Abnormality of the calf 0.3719530469274988 0.9792067395693356 0.3274778392610045 1.0 0.7575602909145058 43 Q9Y619,Q15056,Q13126,O75718,P35250,Q9NR77,Q9Y5S9,Q9Y4P3,P16278,O95831,Q8N0X7 11 |
| Nonimmune hydrops fetalis 0.419406780510651 0.977996993561596 0.3280758110299699 1.0 0.7575602909145058 22 P10619,P04062,Q14739 3 |
| Hypoplasia of the musculature 0.5958462058165602 0.9749446424209294 0.3295877201339801 1.0 0.7583673616353491 6 Q9Y487,Q9NR77 2 |
| Central nervous system cyst 0.369393142107134 0.9747410714842052 0.3296887144135128 1.0 0.7583673616353491 44 Q9UHX1,O96028,P23786,P07437,Q969G3,Q9Y487,Q9UBM7,P37198 8 |
| Abnormal pleura morphology 0.4333810890774904 0.9718285826780736 0.3311358337659189 1.0 0.7583673616353491 18 Q9NZ08,Q14739 2 |
| Postaxial hand polydactyly 0.5216369903042585 0.970422069457654 0.331836152433322 1.0 0.7583673616353491 8 Q9BW83,Q9UBM7,Q9UM00,Q14739 4 |
| Congenital ichthyosiform erythroderma 0.6138765961563301 0.9687932349880256 0.332648362597731 1.0 0.7583673616353491 5 P18074,P04062 2 |
| Proximal symphalangism 0.7429620563035498 0.9660995416821252 0.3339943738607465 1.0 0.7583673616353491 3 P48651,Q15233 2 |
| Symphalangism affecting the phalanges of the hand 0.7429620563035498 0.9660995416821252 0.3339943738607465 1.0 0.7583673616353491 3 P48651,Q15233 2 |
| Synostosis of metacarpals metatarsals 0.7429620563035474 0.9660995416821172 0.3339943738607505 1.0 0.7583673616353491 3 P16435,Q15233 2 |
| Hyporeflexia of lower limbs 0.5206016428642112 0.965366907937269 0.334361070249165 1.0 0.7583673616353491 8 Q9NR77,P04792 2 |
| Cachexia 0.4495719398247239 0.9642141638168076 0.3349385646952001 1.0 0.7583673616353491 15 Q01844,Q99720,P04062,P35637 4 |
| Tachycardia 0.4287467646969805 0.963765248087104 0.3351636334102714 1.0 0.7583673616353491 19 Q8NFF5,O43772,P23786,P42892 4 |
| Nausea 0.4493916822251609 0.9631067642479608 0.3354939475552192 1.0 0.7583673616353491 15 Q16134,P06280,P13804,O43464 4 |
| Skeletal muscle hypertrophy 0.3813020511825453 0.9630007968413872 0.3355471233824052 1.0 0.7583673616353491 36 Q15056,P61978,P35250,Q9NR77,Q9Y4P3,P16278,O75648,P10253 8 |
| Dysgraphia 0.4554867674701031 0.9608736133924982 0.3366157195778261 1.0 0.7602981972385009 14 Q13501,Q15056,P05067,P35250 4 |
| Neuronal loss in central nervous system 0.5554639080822062 0.9597780539087246 0.3371669297895767 1.0 0.7608619032955601 7 P35637,P04062 2 |
| Abnormal clavicle morphology 0.4415042520691913 0.956599782081405 0.3387692988712181 1.0 0.76200319399616 16 Q9Y619,Q15738,O75844,Q9Y5S9,O75431,Q14739 6 |
| Early onset of sexual maturation 0.3790472357162434 0.9540016322760018 0.3400828161444673 1.0 0.7631495467803081 37 Q15056,O75874,O96028,P35250,Q9Y4P3,P48735,Q9UBM7 7 |
| Left ventricular hypertrophy 0.4198917083733922 0.9535321897375012 0.3403204946369995 1.0 0.7631495467803081 21 P06280,P10253,Q6NUK1,P00403,P78536,P40939,O75880,Q07021,P12235,O75431 10 |
| Abnormal nephron morphology 0.3575935347964617 0.9521456378556086 0.3410231263854026 1.0 0.7633326356288643 48 Q14108,Q9NZ08,O75306,Q15056,P06280,Q8NFH4,P23786,P35250,Q02978,P00403,Q9Y4P3 11 |
| Developmental cataract 0.3623706474314152 0.9505224957426468 0.3418468289580172 1.0 0.7638315827660359 46 P48449,P13804,Q16134,P18074,Q99797,Q99519 6 |
| Abnormal waist to hip ratio 0.5901239221947583 0.9503996817841937 0.3419092056190878 1.0 0.7638315827660359 6 P31751 1 |
| Abnormal electroretinogram 0.3993570806009982 0.949678077793815 0.3422758521332834 1.0 0.7638315827660359 27 P50897,Q15555,P40939,Q15067,Q9BW83 5 |
| Cyanosis 0.4471394072919361 0.9492711405813856 0.3424827275032021 1.0 0.7638315827660359 15 O43772 1 |
| Chorioretinal dysplasia 0.6352030762865426 0.948863213989488 0.3426901860674924 1.0 0.7638315827660359 4 O43505,P53701 2 |
| Abnormal caudate nucleus morphology 0.5527463893644277 0.947364390582444 0.3434531299124188 1.0 0.7643775241866069 7 O75306,Q9BVA1 2 |
| Limitation of joint mobility 0.3344272986867266 0.9470996472137644 0.3435880044958379 1.0 0.7643775241866069 76 P16435,P08236,Q03001,P35250,P16278,P15586,P48735,P48651,O75874,P23786,O75844,Q9HC21,P18074,Q96J02,P37268,O75431,O15460,Q15056,O95140,P54802,Q9Y4P3,O14979,P51648,Q13642,Q96AY3 25 |
| Jaundice 0.3684810602282857 0.9468080863175256 0.3437365805125845 1.0 0.7643775241866069 43 P61916,P13804,Q16134,P00374,O75648,Q00059,Q15904,Q14739 8 |
| Abnormality of upper limb joint 0.3312142158067646 0.9461433442439648 0.3440754786598665 1.0 0.7644134056746631 82 Q9Y619,P35250,Q9NR77,P16278,P10644,P57081,Q15392,P42892,P48651,P23786,Q13510,Q9Y3E5,O75844,Q13363,P18074,Q9Y5S9,O95831,Q96J02,Q15056,O96028,Q03164,Q9Y4P3,Q13642 23 |
| Anarthria 0.5886059966498218 0.943896497256688 0.3452225421547736 1.0 0.765746404443334 6 P35637 1 |
| Impaired proprioception 0.3881131365082387 0.9432284646240328 0.3455640568096076 1.0 0.765746404443334 32 Q9Y619,P41440,O95140,Q8IV08,P54802,Q9NR77,Q13217,Q06787,Q15120,O14773,Q8N0X7 11 |
| Sparse eyebrow 0.4056502929087577 0.9398852404927136 0.3472764288909986 1.0 0.7680018224924435 24 P48449,P61978,O75844,P14923,Q96EK5,Q9UM00,O60828,Q5SRE5,Q00577,O75431 10 |
| Fever 0.336316864619871 0.9343428100317036 0.3501270880722142 1.0 0.7681560181936017 68 Q9NZ08,P28070,O15460,P06280,P23786,P18074,Q9NR77,Q13510,P10253,Q14739 10 |
| Vertebral compression fracture 0.4446796816781077 0.9341640783710232 0.3502192621995776 1.0 0.7681560181936017 15 Q14108,O75718,P04062 3 |
| Entropion 0.5049138887794143 0.9330994882505832 0.3507686033371899 1.0 0.7681560181936017 9 O75844 1 |
| Lower limb spasticity 0.3371781800955176 0.9330874151604012 0.3507748363260876 1.0 0.7681560181936017 64 Q9Y619,O75306,P04062,P35637,O95831,Q5XKP0,Q99720,Q6DKK2,Q99519 9 |
| Foot dorsiflexor weakness 0.400244226075093 0.932815299177056 0.3509153406009391 1.0 0.7681560181936017 25 Q13501,P04792,O95140,Q99720,Q9NR77,Q13642,P31483,Q14739 8 |
| Dyscalculia 0.5136378711789834 0.931399937089335 0.3516467234092366 1.0 0.7681560181936017 8 P35637,P09651,P22626,Q13501 4 |
| Degeneration of the lateral corticospinal tracts 0.5856647170216818 0.9313053257044104 0.3516956478754127 1.0 0.7681560181936017 6 P35637 1 |
| Pulmonary fibrosis 0.4302410598528744 0.9302861032425954 0.3522229710703954 1.0 0.7681560181936017 17 P09601 1 |
| Nuclear cataract 0.6304478054328528 0.9294788767224708 0.3526409672296342 1.0 0.7681560181936017 4 Q99797 1 |
| Scrotal hypoplasia 0.4297509447776926 0.9270996621411204 0.3538747915585087 1.0 0.7681560181936017 17 P18074,Q15555,Q9UBM7,P07437 4 |
| Abnormal morphology of the musculature of the neck 0.4939008279697459 0.9238859406739316 0.3555457037906708 1.0 0.7681560181936017 10 P35637,Q99720 2 |
| Abnormal peripheral nervous system morphology 0.3250317204955652 0.9216833955730744 0.3566937440899944 1.0 0.7681560181936017 124 Q9Y619,Q9UHX1,P04792,O95721,Q9NR77,Q15120,Q13501,P31930,Q8IV08,Q13510,Q99720,Q99519,P41440,Q9BUF5,P00403,P16219,O95831,Q15067,Q6DKK2,P35637,O43681 21 |
| Abnormality of bladder morphology 0.4932911687672301 0.9207547889972716 0.3571784641318072 1.0 0.7681560181936017 10 Q9NWM8,Q15056,P35250 3 |
| Abdominal pain 0.3341775649057926 0.9204622067557648 0.3573312739971372 1.0 0.7681560181936017 71 Q14108,Q9NZ08,O15460,Q15056,P06280,Q8NFH4,P04062,P23786,P35250,Q01844,P35637,Q9Y4P3,P42892,Q70HW3 14 |
| Neoplasm of the skeletal system 0.3761123988931601 0.9182309771447236 0.3584979542974886 1.0 0.7681560181936017 36 P48735,Q13126,Q92804,O75874 4 |
| Goiter 0.5820928997486132 0.9160338288777315 0.3596491521029827 1.0 0.7681560181936017 6 P48735 1 |
| Tongue fasciculations 0.5014692354200798 0.9158738195082412 0.3597330797695846 1.0 0.7681560181936017 9 Q13510 1 |
| Aplasia hypoplasia of the optic nerve 0.4347037845486722 0.9136490573476148 0.360901280099319 1.0 0.7681560181936017 16 Q9UHX1 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.3701368876719956 0.9129584290996752 0.3612644055860352 1.0 0.7681560181936017 40 Q9UHX1,O75844,Q14739 3 |
| Minicore myopathy 0.6778140293637871 0.9124704859404544 0.3615210993327458 1.0 0.7681560181936017 2 P51114 1 |
| Nocturnal hypoventilation 0.6778140293637746 0.9124704859404028 0.3615210993327729 1.0 0.7681560181936017 2 P61978 1 |
| Progeroid facial appearance 0.5450073995111905 0.912072445837736 0.3617305821657528 1.0 0.7681560181936017 7 O75844 1 |
| Beaking of vertebral bodies 0.580879273631651 0.9108499012184827 0.3623744655442662 1.0 0.7681560181936017 6 P16278,Q9UM00,P08236 3 |
| Abnormal abdomen morphology 0.3489322650824266 0.9101202459727225 0.3627590984029303 1.0 0.7681560181936017 178 Q9Y619,P28070,P21964,Q01844,P31751,P16278,P09601,P40939,O75880,P10644,Q15392,Q15904,Q9Y375,Q14739,O75306,O43772,Q16134,P23786,Q13510,Q99519,Q14108,P61916,P13804,O75340,P00374,P10619,Q9Y5S9,P20674,O43676,Q15067,Q96J02,Q00059,O75431,Q9NZ08,O15118,O95140,P04062,P54802,Q9P032,O75648,P10253,Q8N183 42 |
| Neck muscle weakness 0.4990945983357848 0.9040094913412832 0.3659903685902477 1.0 0.7723165077646305 9 P35637 1 |
| Abnormal visual electrophysiology 0.370359129911898 0.9013826699057832 0.3673848924289613 1.0 0.7737825615301409 39 P50897,Q15555,P40939,Q15067,O75503,Q9BW83,O43681 7 |
| Secondary microcephaly 0.3350442997537007 0.899369060398111 0.3684561134645983 1.0 0.7743211253779669 55 Q9UHX1,P00374,P50897,Q5XKP0,Q9Y487 5 |
| Proximal upper limb amyotrophy 0.578162889871296 0.8992567243140476 0.3685159323808773 1.0 0.7743211253779669 6 O14979 1 |
| Abnormality of the musculature of the upper arm 0.578162889871296 0.8992567243140476 0.3685159323808773 1.0 0.7743211253779669 6 O14979 1 |
| Abnormal cranial nerve morphology 0.3516317566538579 0.8927125351150913 0.372011135803201 1.0 0.776037957839017 48 Q9BUF5,Q9UHX1,O75340,P48651,P22626,Q02978,P09651,P16219,Q969G3,P10644,Q13510,Q9Y3E5,Q13501 13 |
| Lower limb asymmetry 0.6213186011099607 0.8924011212030578 0.3721779703752543 1.0 0.776037957839017 4 P07437 1 |
| Corneal dystrophy 0.7230396831095003 0.8910395881759313 0.372907932468524 1.0 0.776037957839017 3 P06280 1 |
| Abnormality of mouth size 0.3148751973246169 0.8888177980317585 0.3741010090189158 1.0 0.7769701525262928 98 Q9Y619,Q01105,P21964,Q8NCH0,P35250,Q6NUK1,P16278,P15586,P57081,Q15392,P48651,Q96C86,P07437,Q969G3,O75844,O96019,Q92785,Q9UM00,P55011,Q9UBM7,O75431,Q9Y487,Q15056,Q9UQR1,P04062,Q15555,Q9Y4P3,O75648 28 |
| Visual field defect 0.371558067826207 0.8886926027666723 0.3741683076827953 1.0 0.7769701525262928 37 O75306,O15460,Q9BVA1,Q8WWV3,P00403,Q15555,Q9H061,Q969G3 8 |
| Partial agenesis of the corpus callosum 0.4743168898980591 0.8850924985412392 0.3761067449778346 1.0 0.7789098468059521 11 P18074,P57081,Q15392 3 |
| Decreased circulating igg level 0.486265928381522 0.8847146092052272 0.376310574279519 1.0 0.7789098468059521 10 P18074,Q15904 2 |
| Respiratory failure requiring assisted ventilation 0.6190442833702148 0.8831945415554503 0.3771311702749296 1.0 0.7801923134359278 4 P10253 1 |
| Red eye 0.4198773759169242 0.8826172807692085 0.3774430885934547 1.0 0.7804725483164331 18 Q9NZ08,P28070,Q14739 3 |
| Weight loss 0.3332333851059412 0.8810483198592232 0.3782916673671617 1.0 0.7818617031611944 59 Q9NZ08,O15460,Q06136,O75844,P04062,Q01844,P35637,Q99720 8 |
| Intrinsic hand muscle atrophy 0.5922591560897092 0.878291390266805 0.3797856069450847 1.0 0.782754771443667 5 Q9NR77,Q13501 2 |
| Postaxial polydactyly 0.4473024811184334 0.8779595564934513 0.379965667036013 1.0 0.7827611296228623 13 P98175,P61978,Q9Y263,Q10713,Q9UM00,Q9BW83,Q9UBM7,Q14739 8 |
| Rib fusion 0.5726923848013303 0.8759526597511652 0.3810557700723422 1.0 0.7827892828676599 6 O96028,Q9UM00 2 |
| Abnormal lower limb bone morphology 0.3183176894175951 0.8758739786891504 0.3810985470078458 1.0 0.7827892828676599 118 Q9Y619,Q9UHX1,P21964,P06280,P16435,P08236,Q6NUQ1,Q10713,P16278,P40939,P10644,Q5SRE5,Q15392,Q14739,P98175,Q13510,O00116,Q8N0X7,O75718,O75844,Q13363,O96019,P18074,Q9Y5S9,O95831,P55011,Q9UBM7,O75431,O43505,O75648,P04062,O96028,Q9Y263,Q03164,Q06787,Q9Y487,Q96AY3 37 |
| Retinal dysplasia 0.5364268841923909 0.8730654468818493 0.3826274061354562 1.0 0.7827892828676599 7 O43505,P07437 2 |
| Basal ganglia cysts 0.5719394345322573 0.8727499426364905 0.3827993893466042 1.0 0.7827892828676599 6 P23786 1 |
| Upper limb amyotrophy 0.4406329181932035 0.8721559584163029 0.3831233021395772 1.0 0.7827892828676599 14 Q13501,Q9NR77,P04792,Q15120 4 |
| Prematurely aged appearance 0.3715242058080225 0.8700760183883431 0.3842588623786354 1.0 0.7827892828676599 35 Q15056,Q13126,O75844,P35250,P18074,Q9Y4P3,Q9Y487 7 |
| Generalized lipodystrophy 0.6157904316152975 0.8700455001004815 0.3842755394014205 1.0 0.7827892828676599 4 O75844 1 |
| Spinal muscular atrophy 0.500790851349469 0.8689352454829898 0.384882550171338 1.0 0.7827892828676599 8 Q13510 1 |
| Diplopia 0.4339312376477708 0.8682127598571429 0.3852778702520687 1.0 0.7827892828676599 15 P18074,O15460,P04062 3 |
| Progressive cerebellar ataxia 0.3832680856686799 0.8679617654866767 0.3854152640732708 1.0 0.7827892828676599 30 Q9Y619,O75306,P35637,Q9Y487,Q13501 5 |
| Osteolysis involving bones of the upper limbs 0.5889128104691785 0.8643705259865992 0.3873843787216944 1.0 0.7827892828676599 5 O75844 1 |
| Abnormality of the ureter 0.3508872772697827 0.8612688157430604 0.3890900066059979 1.0 0.7827892828676599 47 Q9UHX1,Q15056,Q86XL3,O75844,P23786,P35250,Q9UBM7 7 |
| Weakness due to upper motor neuron dysfunction 0.3099446876592632 0.8600871018533011 0.3897410305816673 1.0 0.7827892828676599 106 Q9Y619,Q8N183,Q13423,P57081,P37198,Q13501,O75306,Q4G0N4,Q969G3,Q13510,Q8N0X7,Q9BVA1,Q15041,P18074,P00403,O95831,Q6DKK2,Q9NZ08,P17900,Q96GM8,P04062,P35637,Q5XKP0,Q9UBX3,O43681 25 |
| Abnormality of the amniotic fluid 0.3310322371757348 0.8599112160750129 0.3898379853115832 1.0 0.7827892828676599 62 Q70HW3,Q9UHX1,O75844,P04062,P23786,P40939,Q9UBM7,Q14739 8 |
| Facial asymmetry 0.3873057300578653 0.857304828841643 0.3912764405195703 1.0 0.7827892828676599 27 Q03164,Q9UHX1,O96028,Q14738 4 |
| Recurrent fever 0.4564303461464847 0.8557325917314514 0.3921457083337851 1.0 0.7827892828676599 12 P28070,Q13510 2 |
| Abnormal metatarsal morphology 0.4253172836245861 0.8544310963723232 0.3928661722315654 1.0 0.7827892828676599 16 O43505,Q9UBM7,P16435,O96028,P08236,Q13363,P10644,Q15392 8 |
| Myoclonus 0.3296469757794246 0.851999013131784 0.3942146397905524 1.0 0.7827892828676599 66 Q14108,Q01105,P05067,Q96GM8,P04062,P00374,P50897,P00403,O75503,Q13510,Q9UBX3,P37198,Q99519 13 |
| Frequent falls 0.3831192782888274 0.8514146282333679 0.3945390686327377 1.0 0.7827892828676599 29 O75340,O95140,P04062,Q9NR77,P40939,Q13510,P37198,O43681 8 |
| Congenital nonbullous ichthyosiform erythroderma 0.6110664876626064 0.8510058812990966 0.3947660857494046 1.0 0.7827892828676599 4 P04062 1 |
| Right ventricular cardiomyopathy 0.6110204081632615 0.8508204644050139 0.3948690919106563 1.0 0.7827892828676599 4 Q14126,P15924,P14923 3 |
| Metaphyseal striations 0.6106192056131077 0.8492063409657719 0.3957664855010423 1.0 0.7827892828676599 4 Q13126 1 |
| Bowing of the legs 0.3669324734250607 0.8483357134935786 0.3962510335963303 1.0 0.7827892828676599 37 Q9Y619,Q15056,Q13126,O75718,P35250,Q9NR77,Q9Y5S9,Q9Y4P3,P16278,Q8N0X7 10 |
| Abnormal size of the clitoris 0.4544631565061845 0.8448130319838826 0.3982152372712693 1.0 0.7827892828676599 12 Q9Y619,Q9UBM7,Q96GM8 3 |
| Eyelid myoclonus 0.4952315582156481 0.8420072055855641 0.3997839201714233 1.0 0.7827892828676599 8 P00374,Q13510 2 |
| Abnormal liver morphology 0.3465597217556348 0.8415737799905121 0.4000265709226995 1.0 0.7827892828676599 185 Q9Y619,P28070,Q01844,P31751,P09651,P16278,P09601,P40939,O75880,Q15904,Q9Y375,Q14739,O75306,O43772,Q16134,P23786,Q13510,Q99519,Q14108,P61916,P13804,O75340,P00374,P10619,Q16836,P16219,P20674,O43676,Q15067,Q9Y5S9,Q96J02,Q9BW83,Q00059,O75431,O15118,O95140,P04062,P22626,P54802,Q9P032,Q5XKP0,O75648,P10253,Q8N183 44 |
| Reduced subcutaneous adipose tissue 0.5294126719777905 0.8412938604735198 0.4001833292545771 1.0 0.7827892828676599 7 O75844 1 |
| Gingival bleeding 0.4777028055894249 0.8409073228792115 0.4003998556967554 1.0 0.7827892828676599 10 Q14108 1 |
| Elfin facies 0.5285950287664061 0.8375978346956569 0.4022566093535711 1.0 0.7827892828676599 7 Q15056,P35250 2 |
| Bilateral sensorineural hearing impairment 0.4066539979150794 0.8374719903659348 0.4023273147534278 1.0 0.7827892828676599 20 P18074,P35637,P00403,O43681,Q13501 5 |
| Malabsorption 0.3528408309584948 0.8372674173723502 0.4024422696083041 1.0 0.7827892828676599 45 Q9NZ08,Q15056,P06280,P35250,P18074,P09601,Q14739 7 |
| 2 3 finger syndactyly 0.6590538336052243 0.8357297396821216 0.4033069606325492 1.0 0.7827892828676599 2 P14923 1 |
| 3 4 finger syndactyly 0.6590538336052243 0.8357297396821216 0.4033069606325492 1.0 0.7827892828676599 2 P14923 1 |
| Hypovolemic shock 0.6590538336052243 0.8357297396821216 0.4033069606325492 1.0 0.7827892828676599 2 P14923 1 |
| Shock 0.6590538336052243 0.8357297396821216 0.4033069606325492 1.0 0.7827892828676599 2 P14923 1 |
| Short palm 0.4223268618486082 0.83559112767028 0.4033849617548792 1.0 0.7827892828676599 16 Q9Y619,Q15555,Q9UHX1,P10644 4 |
| Renal cyst 0.3480840829956459 0.8336715693770002 0.4044660832900431 1.0 0.7827892828676599 47 Q9UHX1,P13804,Q15056,Q16134,P23786,P35250,Q9BW83,Q9UBM7 8 |
| Abnormal fear anxiety related behavior 0.316828275829678 0.8301742526011939 0.4064402702831025 1.0 0.7827892828676599 90 P21964,P06280,Q92804,P35250,P09651,P10644,Q13501,P07737,P31930,O43464,Q02978,Q15165,Q9BZH6,O75503,Q8N0X7,O96019,P00403,Q9UM00,P55011,P12235,Q6DKK2,P17900,Q15056,P35637,Q03164,Q9Y4P3,Q06787,O75648 28 |
| Abnormal brain positron emission tomography 0.6054128813062707 0.8283027300465917 0.4074990771362694 1.0 0.7827892828676599 4 Q13501 1 |
| Color vision defect 0.438592535369895 0.8274427132574764 0.4079861793216499 1.0 0.7827892828676599 13 Q9H061,O95140,Q8WWV3,O43464 4 |
| Cortical dysplasia 0.3848061802796627 0.827044294957538 0.408211955736772 1.0 0.7827892828676599 26 Q9BVA1,P07437 2 |
| Narrow nasal ridge 0.5605695515904192 0.8245457072178958 0.4096295560769296 1.0 0.7829695447399567 6 O75844 1 |
| Skin dimple 0.4009480910525498 0.8219187358901544 0.4111231488962121 1.0 0.7837464762741763 21 Q15056,P61978,O96028,P35250,Q03164,Q9Y4P3,Q9UM00 7 |
| Bone fracture 0.5776355091634848 0.8176713628976948 0.4135448666688064 1.0 0.7856997187612246 5 Q13126 1 |
| Abnormality of the metacarpal bones 0.3786365534896617 0.8161941883471242 0.4143890802254995 1.0 0.7869656083458069 29 P48651,Q96S52,P16435,Q32P28,P08236,Q13363,O96028,Q6NUK1,P16278,P10644,Q9UBM7,Q15233,Q14739 13 |
| Short digit 0.3065611423219536 0.8130676612840072 0.416179266292592 1.0 0.7889276056896446 106 P48449,Q9UHX1,Q06136,O75844,O95831,Q13510,Q9UBM7,Q14739 8 |
| Emotional lability 0.3434309662481256 0.8108681214072166 0.4174414090048999 1.0 0.7899556303993303 48 Q8N0X7,O75306,P07737,Q92804,P35637,P09651,Q15165,Q969G3,O43681,Q8N183,Q13501 11 |
| Duplication involving bones of the feet 0.4355821055018252 0.810020936767372 0.4179281426937447 1.0 0.7899556303993303 13 P21964,O96028,Q13363,Q9Y263,Q9UBM7,Q14739 6 |
| Abnormal erythrocyte sedimentation rate 0.5220893865125416 0.8082522012555647 0.4189454126238625 1.0 0.7902173260232641 7 O15460 1 |
| Talipes equinovarus 0.33262157058905 0.8079242273573098 0.4191342033988978 1.0 0.7902173260232641 52 Q9Y619,P21964,P04792,Q8NCH0,P16435,P08236,Q03001,Q6NUQ1,Q9NR77,Q15392,Q6ZXV5,Q9NWM8,Q9Y3E5,Q13363,Q9HC21,Q9Y5S9,Q9UM00,P61978,Q9UQR1,O96028,Q9Y487,Q96AY3 22 |
| Abnormal odontoid tissue morphology 0.3668260270918092 0.8078299657223436 0.4191884722388468 1.0 0.7902173260232641 34 P21964,Q15056,P35250,P18074,P07237,Q9Y4P3,P16278,P51648,Q9UBM7 9 |
| Urinary bladder sphincter dysfunction 0.5565556776298145 0.8076063674473092 0.4193172200263624 1.0 0.7902173260232641 6 P09651,Q9NR77,P22626 3 |
| Abnormal esophagus physiology 0.3389827860729062 0.8058064842177497 0.420354438682776 1.0 0.7911834160959336 171 Q9Y619,Q01105,Q9UHX1,P06280,P35250,Q6NUK1,Q9NR77,P48735,P37198,Q13501,Q14739,O75306,Q6ZXV5,P07737,P05067,O75874,Q13510,Q99720,Q99519,Q14108,Q9BUF5,P61916,Q15067,Q9UBM7,Q15056,P04062,O96028,P35637,Q03164,Q9Y4P3 30 |
| Respiratory insufficiency 0.3265891372451064 0.8045231279776803 0.4210949177971801 1.0 0.7913923218442069 143 Q9Y619,P06280,Q92804,Q6NUK1,Q9NR77,P40939,Q9Y375,Q13501,Q14739,O75306,O43772,P07737,Q8NFF5,P23786,O43464,Q15165,Q13510,P61916,O95831,O43676,Q15067,Q70HW3,O95140,P35637,Q9Y263,Q9P032,Q5XKP0,O75648,Q13642,P10253 30 |
| Abnormality of the cerebrospinal fluid 0.3077265232791461 0.80340268024746 0.4217420263743734 1.0 0.7913923218442069 109 Q8N183,P21964,P16435,P08236,P07237,Q6NUK1,Q9NR77,P10644,Q15392,Q9Y375,O75306,O15382,P48651,P23786,O43464,Q969G3,Q99519,Q8IUX1,Q13363,Q9HC21,P18074,P00403,O95831,O43676,P55011,Q9UBM7,O43505,O95140,Q9NPL8,P04062,O96028,Q14738,Q9P032,O43681 34 |
| Abnormality of the spleen 0.3076456419188772 0.8031578190500019 0.4218835222509338 1.0 0.7913923218442069 99 Q14108,Q9NZ08,P28070,Q99519,P04062,Q15392,P10619,P16278,Q13510,P10253,Q15904,Q14739 12 |
| Blindness 0.3253799471826135 0.8031138956671348 0.4219089068298982 1.0 0.7913923218442069 66 Q9NZ08,P17900,P50897,P16278,O43676,Q9Y375 6 |
| Long palm 0.6508972267536665 0.8028009243102194 0.4220898078478754 1.0 0.791396023785991 2 P16435 1 |
| Papule 0.4289160170416569 0.8024122188000886 0.422314547359254 1.0 0.7914818826143984 14 O75844 1 |
| Photophobia 0.3681234926726379 0.7983439568169653 0.424670916029241 1.0 0.7935443437251091 33 Q9NZ08,P48449,Q8WWV3,P18074,Q15555,P40939 6 |
| Abnormal insulin level 0.3859734836974922 0.7954902765594747 0.4263283648376186 1.0 0.7947566591851978 24 O75844,P31751,Q15555,Q16836,P40939 5 |
| Asymmetric growth 0.5192254307306311 0.7953708371315376 0.426397818730833 1.0 0.7947566591851978 7 Q15555,P07437 2 |
| Abnormality of the thoracic cavity 0.4684407849682664 0.7937184486202623 0.427359357718879 1.0 0.7952516118660587 10 Q01844,O15460 2 |
| Aqueductal stenosis 0.5965638284390464 0.7929672381896669 0.4277969107962271 1.0 0.7952516118660587 4 P57081 1 |
| Abnormal gastrointestinal motility 0.3855176762003747 0.7921507241761202 0.428272796564547 1.0 0.7952516118660587 24 Q01844,P06280,Q9UBM7,P35637 4 |
| Abnormal metabolic brain imaging by mrs 0.4566195282702143 0.7910127960842631 0.4289365244206782 1.0 0.7954659318711361 11 O75306 1 |
| Posterior embryotoxon 0.4263881939428741 0.7874077705370304 0.4310431993988297 1.0 0.7984296868094743 14 Q15056,Q9Y4P3,Q8WYQ5,P35250 4 |
| Dolichocephaly 0.3959622553898059 0.7873513570655919 0.4310762134526396 1.0 0.7984296868094743 21 P61978,O95721,O96028,Q14738,Q03164,Q96J02 6 |
| Vomiting 0.3203290234378619 0.7831582691085374 0.4335341771721037 1.0 0.801800681394671 77 Q9Y619,O75306,P13804,Q16134,P06280,P22695,P11117,P23786,P00403,Q16836,P40939,O43676,Q9UBM7,Q9Y375 14 |
| Adducted thumb 0.3953355058996675 0.7830098127039489 0.433621349739103 1.0 0.801800681394671 21 Q15056,Q86XL3,P35250,Q9Y5S9,Q9Y4P3,P42892 6 |
| Abnormal heart sound 0.5931998531914735 0.7796036152545572 0.4356242272860426 1.0 0.8028503794637025 4 P10253 1 |
| Recurrent fractures 0.3738688460974546 0.7787643571528905 0.4361185374008134 1.0 0.8028503794637025 29 Q13126,O75718,O75874,P48735,Q13501 5 |
| Ovoid vertebral bodies 0.5495291859353592 0.7780643640899338 0.4365310697421045 1.0 0.8028503794637025 6 P54802,P16278 2 |
| Aplasia hypoplasia of fingers 0.3225244752997841 0.7778072298977289 0.4366826650756581 1.0 0.8028503794637025 69 Q9UHX1,O75844,O95831,Q13510,Q9UBM7 5 |
| Short upper lip 0.5926090868027395 0.7772609130447738 0.4370048507959865 1.0 0.8028503794637025 4 O96028 1 |
| Abnormal systemic blood pressure 0.3214556656603173 0.7750452960832187 0.4383128944771097 1.0 0.8030894499885072 72 P21964,O43772,Q15056,O43681,P06280,O75844,P04062,P35250,Q02978,Q13423,P00403,P49366,Q9Y4P3,Q96J02,Q9BW83,P42892 16 |
| Lower extremity joint dislocation 0.3236186033735037 0.7740329065228413 0.4389113318847095 1.0 0.8035202073369497 59 Q15738,Q6ZXV5,Q9UHX1,P21964,Q15056,Q9UBM7,O75844,Q13363,O96028,P35250,Q14738,Q9Y5S9,Q9Y4P3,P55011,Q9Y487,Q13642,Q9Y3E5 17 |
| Renal duplication 0.5126084963046115 0.7657059521167532 0.4438512846690672 1.0 0.810550880301934 7 Q15056,P35250 2 |
| Abnormal tricuspid valve physiology 0.4165692075884671 0.762106350868544 0.4459965327332269 1.0 0.8124557925366814 15 Q96AX1,P36543,Q6NUK1,P40939,P10644,Q15233,Q15904,O75431 8 |
| Sensory neuropathy 0.3731682865320701 0.7604618219900755 0.4469785816258764 1.0 0.8138426539247569 28 O95140,Q8IV08,Q15041,P22626,P00403,O95831,P40939,Q15067 8 |
| Joint contracture of the hand 0.3677051581527596 0.7594200652897724 0.4476013142247761 1.0 0.8138426539247569 31 Q9Y619,O75844,Q13642,P18074,Q9NR77,P57081,Q15392,P42892 8 |
| Dysesthesia 0.5868203105359264 0.7543738343750694 0.4506247785725557 1.0 0.8150316860643931 4 Q9NR77,Q06787 2 |
| Primitive reflex 0.5434461112082073 0.7526140423182375 0.4516818768566377 1.0 0.8157570197374066 6 P17900 1 |
| Underdeveloped supraorbital ridges 0.4684717472968057 0.7521297480489467 0.4519730358902498 1.0 0.8158026940227696 9 Q6NUK1,P16435,P98175,Q99519 4 |
| Decreased circulating acth level 0.5854691015709595 0.74905003820942 0.4538270466405754 1.0 0.8176281170229184 4 Q969G3,P10644 2 |
| Sarcoma 0.3392941978747101 0.7471412370989853 0.4549783105529217 1.0 0.8186749357772398 47 Q13126,Q92804,O75874,Q01844,P48735,Q15392 6 |
| Iris coloboma 0.372621508841131 0.7449153150870711 0.4563229160759456 1.0 0.8197872696197838 27 O75340,Q9UHX1,O96028,Q9UBM7,Q96EK5 5 |
| Recurrent gastroenteritis 0.6831013943909203 0.7439490686304413 0.4569072881649416 1.0 0.8199609154999244 3 P78536 1 |
| Irregular hyperpigmentation 0.3207965276481754 0.7439474995502343 0.4569082374641091 1.0 0.8199609154999244 54 Q06136,O75844,P07437,P18074,Q15555,Q14739 6 |
| Coxa vara 0.4583402921928752 0.7425493402760882 0.4577545691532885 1.0 0.8199609154999244 10 Q9Y487,O95831 2 |
| Skin pit 0.4664972848966789 0.7424321315953348 0.4578255576852896 1.0 0.8199609154999244 9 O96028,Q13363,P61978 3 |
| Abnormal cerebral vascular morphology 0.320709219499703 0.7417770059448183 0.4582224544045772 1.0 0.8199609154999244 56 Q15056,P05067,O95721,P06280,O75844,P04062,P23786,P35250,Q02978,P00403,Q9Y4P3,P10253 12 |
| Aganglionic megacolon 0.4470220103166927 0.7403553530426299 0.459084402071398 1.0 0.8199609154999244 11 Q9UBM7,P21964,Q96EK5,P42892 4 |
| Postaxial foot polydactyly 0.5587157751049601 0.7402098811587007 0.4591726528307829 1.0 0.8199609154999244 5 Q14739 1 |
| Abnormality of the 5th toe 0.5587157751049601 0.7402098811587007 0.4591726528307829 1.0 0.8199609154999244 5 Q14739 1 |
| Periventricular cysts 0.5404593510038749 0.7401642138108544 0.4592003589629918 1.0 0.8199609154999244 6 O96028 1 |
| Death in childhood 0.3856227404115109 0.7392891085420253 0.4597314614725543 1.0 0.8202469762376392 22 Q9NPL8,O95721,P18074,Q6NUQ1,Q96IX5,P20674,O60828,O75431 8 |
| Tetralogy of fallot 0.3630368541080324 0.7381819454416755 0.4604038926662572 1.0 0.8204749402053727 32 Q9UHX1,Q15056,P35250,Q9Y5S9,Q9Y4P3,Q969G3,Q8WYQ5 7 |
| Joint dislocation 0.3188258919974397 0.7348456606640715 0.4624334952248703 1.0 0.8216947636098542 69 Q9Y619,Q9UHX1,P21964,P35250,P10644,Q6ZXV5,Q9Y3E5,Q15738,O75844,Q13363,P18074,Q9Y5S9,P55011,Q9UBM7,Q15056,O96028,Q14738,Q9Y4P3,Q9Y487,Q13642 20 |
| Oromandibular dystonia 0.5815562669737824 0.7336746422625515 0.463147056786116 1.0 0.8220302697291296 4 P35637 1 |
| Premature skin wrinkling 0.4108357318619168 0.7272527044499449 0.4670711651968944 1.0 0.8260119007060631 15 Q9Y487,O75844 2 |
| Renal agenesis 0.3490875772722014 0.7231861844347137 0.4695655055332837 1.0 0.8272854254295499 40 Q9UBM7,Q9UHX1,Q86XL3,Q15392 4 |
| Narrow palpebral fissure 0.4323403334196172 0.7227318676714508 0.4698446329693864 1.0 0.8272854254295499 12 Q03164,O75648,Q8WYQ5 3 |
| Rigidity 0.3490254019200384 0.7226265308203645 0.4699093639133389 1.0 0.8272854254295499 40 Q8NC96,P31930,P04062,P35270,O43464,Q9Y263,P16278,P12235,Q06787,Q15392,P37198,O43681 12 |
| Abnormal femoral head morphology 0.4202562402646142 0.7217464640736059 0.4704503695601676 1.0 0.827356653902434 13 P16278 1 |
| Mitochondrial respiratory chain defects 0.5776988736831103 0.7185793913273365 0.4724001150818173 1.0 0.8288082939337081 4 O75306 1 |
| Abnormality of the breast 0.3152924416527046 0.7178723865142266 0.4728359754332569 1.0 0.829244060008444 76 Q9Y619,O75874,O96028,P07437,P23786,Q6NUK1,P18074,P51809,Q14738,Q15555,Q15067,P48735,Q9UBM7,Q96EK5 14 |
| Hallux valgus 0.4091836270842297 0.7172320678972456 0.4732309154634937 1.0 0.829349644985487 15 Q15056,P04062,P35250,Q9Y4P3,Q96J02 5 |
| Duplication of hand bones 0.3455252424892098 0.7171667758725723 0.4732711969123602 1.0 0.829349644985487 42 Q9UHX1,O96028,Q9Y263,Q9UM00,Q15067,Q9BW83,Q9UBM7,Q14739 8 |
| Lethargy 0.3180845032798877 0.7162540904278898 0.4738344691164105 1.0 0.8300078641195578 64 Q9Y619,O75306,O43772,P23786,Q16836,P16219,P40939,O43676,Q9Y375 9 |
| Abnormal brain lactate level by mrs 0.5011128767486235 0.7145312697995748 0.4748987273811009 1.0 0.8302280913860116 7 O75306 1 |
| Intestinal malrotation 0.3849724698053335 0.7113862367832678 0.4768449254105507 1.0 0.8326431524243448 21 P21964,Q9UBM7,O96028,Q13363,P55011,Q15392,Q14739 7 |
| Ovarian neoplasm 0.396297510062115 0.7104522374731858 0.4774237394485421 1.0 0.8333196095134954 17 Q01844,P48735,O75874 3 |
| Abnormality of the synovia 0.317388056529918 0.7071276479375145 0.4794871558271107 1.0 0.835010974090852 63 Q15738,Q9UHX1,Q9NQT5,O75718,Q9UBM7,P16435,O75844,P08236,Q13363,O96028,Q14738,Q9Y5S9,P16278,P55011,Q9Y487,Q13642,Q9Y3E5,Q96AY3 18 |
| Mildly elevated creatine kinase 0.3929952425593457 0.7058221581199836 0.480298740567525 1.0 0.8350476924253785 18 O75340,Q16836,P40939,O75648,P31483,Q13501 6 |
| Abnormal cardiac ventricular function 0.417259666282055 0.7045874024232758 0.4810670404565456 1.0 0.8355900745385397 13 P10253,O75844 2 |
| Eeg with spike wave complexes 0.4664554103795246 0.7040709608193988 0.481388583386406 1.0 0.8355900745385397 8 O75503 1 |
| Short clavicles 0.4981882368545361 0.7015941056217863 0.4829323286035025 1.0 0.8366665450110817 7 Q15738,O75844 2 |
| Bruising susceptibility 0.3728413090839455 0.6994950751366639 0.4842426897147778 1.0 0.8369735540634483 24 Q9NWM8,Q13126,Q14108,P04062 4 |
| Renovascular hypertension 0.5302068860859644 0.6976826736001484 0.4853756661136497 1.0 0.8369735540634483 6 Q15056,P35250 2 |
| Phonophobia 0.5302068860859644 0.6976826736001484 0.4853756661136497 1.0 0.8369735540634483 6 Q15056,P35250 2 |
| Supravalvular aortic stenosis 0.5302068860859644 0.6976826736001484 0.4853756661136497 1.0 0.8369735540634483 6 Q15056,P35250 2 |
| Nystagmus induced head nodding 0.5302068860859644 0.6976826736001484 0.4853756661136497 1.0 0.8369735540634483 6 Q15056,P35250 2 |
| Overfriendliness 0.5302068860859644 0.6976826736001484 0.4853756661136497 1.0 0.8369735540634483 6 Q15056,P35250 2 |
| Flat cornea 0.5302068860859644 0.6976826736001484 0.4853756661136497 1.0 0.8369735540634483 6 Q15056,P35250 2 |
| Brittle hair 0.4059539692197562 0.6976752296837031 0.4853803224446631 1.0 0.8369735540634483 15 P18074,Q9Y487,O75844 3 |
| Bundle branch block 0.4967948496209671 0.6954432082495379 0.486777590324204 1.0 0.8381186607177611 7 P04899,P06280,P14923 3 |
| Malar prominence 0.6235725938009844 0.6948464441457437 0.4871515385575327 1.0 0.838393484451349 2 Q96MF7 1 |
| Abnormality of the septum pellucidum 0.3565934826997174 0.6856769634725647 0.4929168366218917 1.0 0.8433931018872831 32 O43505,Q9BVA1,P48651,Q13409,Q96C86,Q13363,O96028,Q14738,Q9BZH6,Q9Y5S9,Q15392 11 |
| Abnormal pharynx morphology 0.3579471411775999 0.6809781310547657 0.4958853282207949 1.0 0.8471613776441004 31 Q86YV9,O15460,P54802,Q969G3,P16278,P15586,Q13510 7 |
| Abnormal renal cortex morphology 0.3382212973425765 0.6799277624236347 0.4965502018392198 1.0 0.8479697076196407 44 Q14108,Q9NZ08,P13804,Q16134,P06280,Q8NFH4,Q02978,P00403 8 |
| Synostosis of joints 0.3651785673379067 0.678947073106415 0.4971713978893326 1.0 0.8482647788461317 26 Q9UHX1,Q15056,O96028,P35250 4 |
| Narrow mouth 0.3149403101468664 0.6783302674939005 0.4975623117920191 1.0 0.8482647788461317 56 Q9Y619,P21964,Q8NCH0,P16435,Q6NUK1,Q15042,Q15392,P08754,Q96C86,P07437,O75844,O96019,P55011,Q15233,O75431,Q9Y487,O15160,P04062,Q96ST3,Q15555,O60828,O75648 22 |
| Broad nasal tip 0.3451003178070677 0.6763678609081233 0.4988071172425412 1.0 0.8482647788461317 39 Q9UHX1,O95831,P16278 3 |
| Hypoplastic fingernail 0.412279389183856 0.6761582685318632 0.4989401648957683 1.0 0.8482647788461317 13 P48651,Q969G3,O75431,Q14739 4 |
| Irregular menstruation 0.5426491173362985 0.6755106200084734 0.4993514064178437 1.0 0.8482647788461317 5 Q06787,P10644 2 |
| Titubation 0.4527513308421366 0.6753571560415504 0.4994488787899243 1.0 0.8482647788461317 9 P35637,Q99720 2 |
| Temporal optic disc pallor 0.6182707993474773 0.6743831640267335 0.500067743610112 1.0 0.8482647788461317 2 O60313 1 |
| Morning glory anomaly 0.6182707993474773 0.6743831640267335 0.500067743610112 1.0 0.8482647788461317 2 O60313 1 |
| Neoplasm of the nervous system 0.3507918036131113 0.6731908087513664 0.5008259078341037 1.0 0.8482647788461317 34 O75874,P07437,Q01844,Q02978,Q15555,P48735 6 |
| Hammertoe 0.4062258683413866 0.6685233868409197 0.5037995585377981 1.0 0.8508230039758232 14 O95140,Q99720,Q9NR77,Q9UBM7,Q8N0X7 5 |
| Undetectable light and dark adapted electroretinogram 0.6615809887567619 0.667196446967647 0.5046466603539899 1.0 0.8516250171755142 3 Q15555 1 |
| Abnormal pulmonary thoracic imaging finding 0.3894439386889031 0.6664771548188506 0.5051061611056533 1.0 0.8516250171755142 17 Q9NZ08,Q13510 2 |
| Focal segmental glomerulosclerosis 0.3841966224185977 0.6657604614230874 0.5055642208539286 1.0 0.8516250171755142 19 Q14108,P00403,Q8NFH4 3 |
| Aplasia hypoplasia affecting the eye 0.3118356926018423 0.6650183997457424 0.5060387245703089 1.0 0.8516250171755142 73 Q86YV9,O43505,Q9UHX1,Q15056,O95721,P61978,O96028,P07437,P35250,Q6NUK1,Q02978,P18074,Q15555,Q9Y4P3,Q9UBM7,Q99519 16 |
| Supranuclear gaze palsy 0.3891766297226682 0.6647664213933606 0.5061999028158324 1.0 0.8516250171755142 17 P35637,Q99720,P04062,Q13501 4 |
| Atrophic scars 0.5397310783750263 0.6638849716907602 0.50676393553079 1.0 0.8519699447687625 5 Q8NCH0,Q9NWM8 2 |
| Abnormality of the palm 0.3038699734176189 0.6630595908025304 0.5072923895821744 1.0 0.8519699447687625 90 Q9Y619,P10644,Q9UHX1,Q06136,O95721,P61978,O96028,Q6NUK1,Q9Y263,Q15555,O95831,Q96J02,Q9Y487,Q13642,O75431,Q14739 16 |
| Abnormality of adrenal morphology 0.3744090477256045 0.6606287476218619 0.5088504283682607 1.0 0.8519699447687625 22 P48735,O75874 2 |
| Diminished movement 0.4042448483592058 0.6569384535981065 0.5112204913896214 1.0 0.8519699447687625 14 O95831 1 |
| Bowel diverticulosis 0.4562431754555313 0.6559050836055205 0.5118851971191678 1.0 0.8527563942968284 8 Q15056,P35250 2 |
| Abnormal renal physiology 0.3064769336250214 0.6550366547755015 0.5124441545040634 1.0 0.8530449737943067 125 O95721,P06280,P35250,P09601,Q9Y375,O75306,O43772,Q16134,P23786,Q14108,P13804,P00403,O43676,Q9BW83,Q9NZ08,O15460,Q15056,P04062,P51809 19 |
| Abnormal circulating aromatic amino acid concentration 0.6580290792623913 0.654735649456466 0.5126379684475899 1.0 0.8530465517094395 3 P35270 1 |
| Megaloblastic anemia 0.4558983704894248 0.6542878018742249 0.5129264031713001 1.0 0.8532055213338324 8 P00374 1 |
| Congenital hypothyroidism 0.5591514655228885 0.646954389674515 0.5176614630338063 1.0 0.85706021834552 4 Q9Y263,Q13423 2 |
| Gangrene 0.4391455716935218 0.6464258229651088 0.5180036213747603 1.0 0.85706021834552 10 Q9NZ08 1 |
| Aplasia hypoplasia of the nipples 0.4287806853168618 0.6450941425019677 0.5188661795156944 1.0 0.85706021834552 11 O96028,P07437 2 |
| Aortic arch aneurysm 0.4848613345806357 0.643130819406919 0.5201392180677837 1.0 0.8584237916096297 7 Q15056,P35250 2 |
| Sparse lateral eyebrow 0.5579694279151884 0.6424483017906043 0.5205821463051554 1.0 0.8588343279029104 4 Q00577,P61978 2 |
| Distal lower limb amyotrophy 0.417513910976065 0.6419699735092403 0.5208926791360564 1.0 0.858979735149457 12 Q9NR77,P04792 2 |
| Abnormal skin morphology of the palm 0.3095288233533106 0.6411270552360275 0.5214401374870419 1.0 0.858979735149457 74 Q9UHX1,Q06136,O95721,P61978,O96028,Q6NUK1,Q96J02,Q9Y487,O75431,Q14739 10 |
| Macrogyria 0.5574799272002415 0.6405844678632524 0.5217926935716346 1.0 0.858979735149457 4 Q15392 1 |
| Ocular anterior segment dysgenesis 0.3104995972134926 0.6405371098699524 0.5218234711116492 1.0 0.858979735149457 70 P48449,P13804,Q15056,Q16134,O96028,P35250,P18074,P00403,Q99797,Q99519 10 |
| Erythema 0.379909244973432 0.6374113153315508 0.5238569598076073 1.0 0.8592022720284566 19 Q15738,P00403,Q06136,P18074 4 |
| Agenesis of corpus callosum 0.3107031371114408 0.6365436698349104 0.5244221270451019 1.0 0.8592022720284566 67 O43505,Q9UHX1,Q9BVA1,P61978,P48651,Q13409,Q86XL3,Q13363,P23786,Q9HC21,P18074,Q92785,P00403,O96028,Q969G3,P55011,P57081,Q15392 18 |
| Ovotestis 0.6080750407830278 0.6355360736433142 0.5250788472287855 1.0 0.8592022720284566 2 P53701 1 |
| Abnormal metacarpal morphology 0.3672685022206904 0.6337630625717118 0.526235462422989 1.0 0.8592703198069783 23 P16278 1 |
| Hypocalcemia 0.4265171105097378 0.6333879298777333 0.5264803451677393 1.0 0.8592703198069783 11 P21964,P40939,Q8WYQ5 3 |
| Peripheral pulmonary artery stenosis 0.4493114438747771 0.6235159293852696 0.5329455377069863 1.0 0.8633649134521284 8 Q15056,P35250 2 |
| Premature birth 0.3468539477171941 0.6226173077947138 0.5335360347596674 1.0 0.8633649134521284 33 Q9UBM7,O75844,O43676 3 |
| Psychomotor retardation 0.3522990660714734 0.6222835242308031 0.5337554528844259 1.0 0.8633649134521284 30 Q9Y619,P04062,O95831,P16278,Q99519 5 |
| Dermal translucency 0.5114919433602704 0.6213143570203024 0.5343928091710861 1.0 0.8633649134521284 6 O75844 1 |
| Decreased specific antibody response to vaccination 0.6483068135454995 0.6209607671148458 0.5346254371431516 1.0 0.8633649134521284 3 P50851,P17812 2 |
| Hypohidrosis 0.479473487995149 0.6197477779385255 0.5354238548349028 1.0 0.8633649134521284 7 Q9H4L7,P06280,P04080 3 |
| Ectropion 0.4336688557372535 0.6193350726609953 0.5356956439840272 1.0 0.8633649134521284 10 P18074,P04062 2 |
| Aplasia hypoplasia of the nails 0.3172790858185652 0.6189970482700168 0.5359183034163431 1.0 0.8633649134521284 51 Q15056,O75844,P23786,P35250,Q6NUK1,P18074,Q14738,Q9Y4P3,Q969G3,Q9Y487,Q14739 11 |
| Contractures of the joints of the upper limbs 0.3196448880050368 0.6184924921935148 0.5362507453076084 1.0 0.8633649134521284 50 Q9Y619,P48651,O75844,Q99720,P23786,Q13642,P18074,P35637,Q9NR77,Q9Y3E5,P37268,P57081,Q15392,Q96AY3,P42892 15 |
| Abnormality of the knee 0.3093427941855871 0.6180606038375388 0.5365353903154171 1.0 0.8633649134521284 65 Q9Y619,Q6ZXV5,O75340,Q15056,Q86XL3,Q15041,P23786,P35250,Q9NR77,Q9Y5S9,Q9Y4P3,P16278,O95831,Q13510,Q8N0X7 15 |
| Developmental regression 0.2923691660955492 0.6176973853660792 0.5367748358363456 1.0 0.8633649134521284 101 Q9NZ08,P17900,O75306,Q15056,P06280,P35250,P18074,O95831,P16278,Q15067,O75503,Q13510,O43681,Q99519 14 |
| Proximal muscle weakness 0.3297505265359471 0.6163003244955048 0.5376963247388304 1.0 0.8633649134521284 45 O75340,O95140,Q8NFF5,Q13126,P10253,P22626,Q13642,P35637,Q13510,Q99720,Q13501 11 |
| Weakness of facial musculature 0.3356128936832499 0.613457249513955 0.5395740417496282 1.0 0.8647335467859162 41 Q9BUF5,Q9UHX1,P16219,Q969G3,Q13510,Q13501 6 |
| Bird like facies 0.509419075514328 0.6129627510445392 0.5399009695801003 1.0 0.8647335467859162 6 O75844 1 |
| Corneal erosion 0.5492542559086855 0.6094645914050201 0.5422165358460214 1.0 0.8666827016714553 4 Q96EK5 1 |
| Sparse and thin eyebrow 0.4314239798858396 0.6082810546234938 0.5430010840850175 1.0 0.8666827016714553 10 P48449,Q96EK5 2 |
| Abnormality of the phalanges of the toes 0.5080259712464811 0.6073630310308559 0.5436100168733733 1.0 0.8666827016714553 6 O75844 1 |
| Muscle stiffness 0.4001155682593856 0.6072717477392067 0.5436705844195102 1.0 0.8666827016714553 13 Q15392 1 |
| Neuronal loss in the cerebral cortex 0.5252893534256797 0.6069949615973297 0.5438542558297415 1.0 0.8666827016714553 5 P35637 1 |
| Craniofacial dysostosis 0.5484190979954767 0.6063268239855046 0.5442977497416264 1.0 0.8668374423405033 4 Q6NUK1,P10644 2 |
| Flat face 0.379671445805341 0.6041882026392591 0.5457185234504385 1.0 0.8676345969609428 17 P07437,Q03164,Q15555,Q9UM00,Q9Y487 5 |
| Skeletal muscle atrophy 0.3055367240406875 0.6033456889561435 0.54627874440595 1.0 0.8679386852268138 130 P04792,Q92804,Q9NR77,P16278,Q15120,Q13501,P07737,Q15165,Q9NWM8,Q13510,Q99720,Q99519,Q9BVA1,Q13126,O95831,Q9BW83,Q6DKK2,Q96GM8,P35637,O14979 20 |
| Dental crowding 0.3745085644353564 0.6018491970023001 0.5472745237584551 1.0 0.8685862412493948 19 Q15738,Q01105,P08754,O75844,Q96A33,Q9UBM7,Q15233,O75431 8 |
| Recurrent tonsillitis 0.5986949429037589 0.6004299353308697 0.5482197424028175 1.0 0.8685862412493948 2 Q13546 1 |
| Serositis 0.3742470614389045 0.6001318758475469 0.5484183504235638 1.0 0.8685862412493948 19 Q9NZ08,O15460 2 |
| Poor head control 0.3075894395727838 0.5999772924034281 0.5485213690629402 1.0 0.8685862412493948 54 Q8IUX1,O75306,Q8NC96,O75340,Q9Y3C8,P17900,O95721,Q9NPL8,Q9NQT5,P61981,Q8N183,P00374,O43676,Q5XKP0,Q9NWM8,Q9P032,Q9Y375 17 |
| Action tremor 0.3309688209177621 0.5968118393136991 0.5506330125598575 1.0 0.869984347767157 43 Q14108,P41440,O75306,P18074,P35637,Q9NR77,Q99720,O43681 8 |
| Arterial stenosis 0.4193731838374432 0.596640394663621 0.5507474957603526 1.0 0.869984347767157 11 Q15056,P35250 2 |
| Abnormal morphology of myocardial trabeculae 0.5456885680267833 0.5960972178945696 0.5511102826465051 1.0 0.8702466191165626 4 P14923,Q99797 2 |
| Tapered finger 0.3485744064554121 0.5930000029822541 0.553181150259447 1.0 0.8713391123922842 30 Q06136,P23786,Q03164,Q15555,Q96EK5 5 |
| Hypoplasia of the frontal lobes 0.4722216615733016 0.5885340425913013 0.5561738908501348 1.0 0.8738852334004737 7 Q9UBM7 1 |
| Aplasia hypoplasia of the uterus 0.3748154237748017 0.5877982470440939 0.5566677207949526 1.0 0.8740295807866792 18 Q96GM8,Q16740,O96028,Q9BZH6,Q9Y5S9 5 |
| Abnormal gallbladder morphology 0.3606517183239062 0.5868888517447303 0.557278357550766 1.0 0.8743044262837688 23 Q15056,P04062,O43681,P35250 4 |
| Abnormal leukocyte physiology 0.3111185270801002 0.5807842590353045 0.5613858652824137 1.0 0.8785621373228347 52 Q14108,P28070,P21964,P04062,P18074,Q9Y5S9,P09601,Q8WYQ5,P17812,Q15904,Q96J02 11 |
| Heterotropia 0.3367393040568719 0.579452666977194 0.5622837758065491 1.0 0.8785621373228347 36 P18074,Q9UHX1,P04062,P40939 4 |
| Diminished motivation 0.3592581811740929 0.5770537625891561 0.563903137776063 1.0 0.8796726032415724 23 P35637,P17900,P04062 3 |
| Brisk reflexes 0.3678812998398686 0.5754115689644949 0.5650129817637763 1.0 0.8796726032415724 20 P35637,O15382,P20674,Q99720 4 |
| Abnormal urine metabolite level 0.3029542478637401 0.574777321992708 0.5654419059792934 1.0 0.8796726032415724 129 Q9Y619,O95721,P06280,P35250,P16278,P09601,P40939,Q16134,Q8NFH4,P23786,O43464,Q99519,Q14108,P13804,P18074,P00403,Q16836,Q15056,P04062,Q9Y4P3,Q5XKP0,P10253 22 |
| Distal upper limb amyotrophy 0.4045405665090937 0.5723047181796933 0.5671155538472128 1.0 0.8796726032415724 12 Q13501,Q9NR77,Q15120 3 |
| Abnormal motor nerve conduction velocity 0.3896148300141135 0.5720973403636583 0.5672560308740082 1.0 0.8796726032415724 14 O95140,P04792,P31930,Q9NR77,Q99720 5 |
| Abnormal circulating glutamine family amino acid concentration 0.5384571170299219 0.569229770835854 0.5692002196066712 1.0 0.8808861341218708 4 P20674 1 |
| Gowers sign 0.4369077006449843 0.566274959070321 0.5712068802628305 1.0 0.8826830754236211 8 Q13510 1 |
| Abnormality of the coagulation cascade 0.3434123090575715 0.5649656102837437 0.5720971554630585 1.0 0.8826830754236211 31 Q9Y619,Q16836,P40939,Q5XKP0,Q9Y487 5 |
| Abnormality of the nasal tip 0.3026637138328891 0.5629434288246742 0.5734734063314502 1.0 0.8826830754236211 75 O75431,Q9UHX1,P21964,P61978,P38159,Q13409,O75844,P23786,Q03164,P16278,Q969G3,O95831,Q9Y487,Q96EK5,Q8WYQ5,P42892 16 |
| Esodeviation 0.3484935289158083 0.5618875234323041 0.5741926548202803 1.0 0.8826830754236211 27 P18074,Q9UHX1,P04062,Q14738 4 |
| Ulnar deviation of finger 0.5136072692275316 0.5618545808303176 0.5742151011209788 1.0 0.8826830754236211 5 Q9UBM7 1 |
| Abnormal exteroceptive sensation 0.3284351214113156 0.5603089708492451 0.5752687095185256 1.0 0.8826830754236211 42 Q9NZ08,O15460,P04792,P06280,Q9NR77,O95831 6 |
| Abdominal distention 0.3827368724074168 0.5587115744989577 0.5763585787570853 1.0 0.8826830754236211 15 Q01844,P04062,O43681 3 |
| Spotty hyperpigmentation 0.5872756933115899 0.5585876281187587 0.5764431854192691 1.0 0.8826830754236211 2 P54132 1 |
| Constitutional symptom 0.3275637034353418 0.5584410270917651 0.5765432638628722 1.0 0.8826830754236211 187 P28070,P21964,P06280,Q92804,P35250,Q01844,P09651,Q9NR77,Q13423,P40939,P48735,P42892,Q14739,Q13501,P07737,O75874,Q8NFH4,P23786,Q02978,Q15165,Q969G3,Q13510,Q99720,Q14108,Q15738,O75844,P18074,Q70HW3,Q9NZ08,O15460,Q15056,O95140,P04062,P22626,P35637,Q9Y4P3,P04899,Q13642,O43681 39 |
| Abnormality of the bladder 0.2963268986912938 0.5583069340680398 0.5766348107859862 1.0 0.8826830754236211 89 Q9UHX1,Q15056,Q86XL3,P04062,P22626,P35250,P35637,Q9NR77,Q9NWM8,Q99720,O43681,Q13501 12 |
| Venous insufficiency 0.5352960622081774 0.5575920438559759 0.5771229905944311 1.0 0.8826830754236211 4 P04062 1 |
| Varicose veins 0.5352960622081774 0.5575920438559759 0.5771229905944311 1.0 0.8826830754236211 4 P04062 1 |
| Spina bifida 0.3492596526323661 0.5536782308604092 0.579799076095187 1.0 0.8826830754236211 25 Q9UHX1,Q15056,P35250,Q9Y5S9,Q9Y4P3 5 |
| Retinal degeneration 0.315412431611177 0.5528423426804239 0.5803713713299052 1.0 0.8826830754236211 49 Q9UG56,P50897,O75503,Q13510,P68371 5 |
| Deep plantar creases 0.5112166150497918 0.5527241286569775 0.580452328539117 1.0 0.8826830754236211 5 Q9Y487 1 |
| Peripheral demyelination 0.4008543998665394 0.5527191088215689 0.5804557664197947 1.0 0.8826830754236211 12 Q9NR77,O43681 2 |
| Abnormality of the pulmonary veins 0.4942657700808809 0.5526587653874749 0.5804970939248868 1.0 0.8826830754236211 6 Q15392 1 |
| Skeletal dysplasia 0.3381945363413604 0.5517233033010909 0.5811379415857076 1.0 0.8826830754236211 33 P10619,P16278,Q14739 3 |
| Pulmonary artery stenosis 0.4263114275453179 0.549130264249012 0.5829160572658945 1.0 0.8834973051481434 9 Q15056,P35250 2 |
| Abnormality of the lymph nodes 0.3357940392927406 0.5482943712011574 0.5834897917367194 1.0 0.8834973051481434 34 Q9NZ08,P28070,Q13510,O15460 4 |
| Abnormality of the plantar skin of foot 0.332920751023937 0.5469593330246751 0.5844066713476308 1.0 0.8834973051481434 36 Q06136,P61978,O95721,Q9Y487,O75431 5 |
| Abnormal activity of mitochondrial respiratory chain 0.3240454417888649 0.5466912945736381 0.5845908359853198 1.0 0.8834973051481434 44 P13073,Q8IUX1,O75306,Q8N183,Q9NPL8,Q16795,P52815,P20674,Q9Y2R0,O43676,O75648,Q9H0R6,Q9P032,Q9UBX3,Q9Y375,Q70HW3 16 |
| Abnormal choroid morphology 0.3682075852089775 0.5454133299526761 0.5854692745623351 1.0 0.8834973051481434 18 Q9Y619,Q5XKP0 2 |
| Abnormal chorioretinal morphology 0.3682075852089775 0.5454133299526761 0.5854692745623351 1.0 0.8834973051481434 18 Q9Y619,Q5XKP0 2 |
| Saccadic smooth pursuit 0.5315484767887889 0.5438829028402605 0.5865220549453434 1.0 0.8839562287886829 4 Q10713,Q06787 2 |
| Abnormal mitochondrial morphology 0.4315987843289377 0.5420922621016702 0.5877549490129095 1.0 0.8839562287886829 8 P35637 1 |
| Bone spicule pigmentation of the retina 0.4915086133762771 0.5418393372286109 0.5879291897137888 1.0 0.8839562287886829 6 Q9UG56 1 |
| Joint hypermobility 0.301057914790162 0.5406797272975393 0.5887283540710677 1.0 0.8843247493899437 74 Q9Y619,Q01105,Q6ZXV5,Q9UHX1,Q15738,Q15056,Q9Y487,P35250,P07237,O96019,Q9Y263,Q03164,Q9Y4P3,Q9UM00,Q9NWM8,O75648,Q15904,Q8N0X7 18 |
| Cupped ear 0.4174268166673636 0.5401019580702768 0.5891267204110857 1.0 0.8843247493899437 10 P08754,P63241,Q96ST3,Q15392,P42892 5 |
| Plantar hyperkeratosis 0.3431704507647518 0.5397707765765698 0.5893551229395833 1.0 0.8843247493899437 29 Q06136 1 |
| Abnormal nipple morphology 0.328539718277807 0.5392154514540791 0.5897381999255507 1.0 0.8843247493899437 40 O96028,P23786,P07437,Q6NUK1,P18074,Q14738,Q15555,Q9UM00,Q15067,Q9UBM7,Q96EK5 11 |
| Abnormality of circulating adrenocorticotropin level 0.4597828429302155 0.5357666447407889 0.5921198374165921 1.0 0.8868764107326742 7 Q13423,P16435,Q969G3,P10644 4 |
| Abnormality of the urethra 0.285371152603057 0.532463212855062 0.5944052140451088 1.0 0.8886531848495548 102 Q9Y619,P48449,Q9UHX1,Q15056,O75844,O96028,P07437,P35250,P51809,Q15555,Q9Y4P3,Q9UBM7,Q96EK5 13 |
| Hyperammonemia 0.3392573818386387 0.5320705736165875 0.5946771171693437 1.0 0.8886531848495548 31 Q9Y619,O43772,P23786,Q16836,P40939 5 |
| Small nail 0.3304119904414199 0.5314950122963166 0.5950757967115381 1.0 0.8886531848495548 37 Q15056,P23786,P35250,Q6NUK1,P18074,Q14738,Q9Y4P3,Q969G3,Q14739 9 |
| Focal white matter lesions 0.5054348825342297 0.5308035140468842 0.5955549446904538 1.0 0.8886531848495548 5 O00584 1 |
| Gonadal neoplasm 0.3607358266338369 0.5280179450184921 0.5974868809163811 1.0 0.8893259118959458 20 Q01844,P48735,O75874 3 |
| Hyperpituitarism 0.3725077906913947 0.5265563411946442 0.5985017169535745 1.0 0.8893259118959458 16 P16435,P51809,Q969G3,Q06787,P10644,P82650,Q15031 7 |
| Abnormality of the ovary 0.310612199912155 0.5264354900784101 0.5985856625574324 1.0 0.8893259118959458 50 Q15056,O75874,O75844,P51809,P35250,Q01844,Q9Y4P3,P48735,Q9BW83 9 |
| Hyperlordosis 0.3289873444477871 0.5260812654058548 0.5988317448699156 1.0 0.8893259118959458 38 Q15738,O75340,Q15056,O95140,P22626,P35250,Q9Y4P3,P16278,Q96J02,Q13642 10 |
| Abnormal atrioventricular valve morphology 0.3453310891283705 0.5249956367618932 0.5995862241179539 1.0 0.8893259118959458 25 Q15056,P04062,O75844,P35250,Q9Y4P3,O75431 6 |
| Hip dislocation 0.3165198813507419 0.5241041166575806 0.6002061254508775 1.0 0.8893506508774643 47 Q15738,Q9UHX1,Q9UBM7,O75844,Q13363,O96028,Q14738,Q9Y5S9,P55011,Q9Y487,Q13642,Q9Y3E5 12 |
| Lower limb amyotrophy 0.3761644894610961 0.5200444835055436 0.6030325711152806 1.0 0.89174625945934 15 Q9NR77,P04792 2 |
| Hydrocephalus 0.3002580335659301 0.5175230483540222 0.604791083823847 1.0 0.8934505556956831 56 P21964,P16435,P08236,P07237,Q6NUK1,P10644,Q15392,P48651,P23786,Q969G3,Q99519,Q13363,P18074,Q9UBM7,O43505,O95140,O96028,P04062,Q14738 19 |
| Abnormal dermatoglyphics 0.3000761024955385 0.5143671220029076 0.6069953413821223 1.0 0.895809274251961 57 Q9UHX1,Q15056,P61978,O96028,P35250,Q6NUK1,Q9Y4P3,Q96J02,Q9Y487,Q9UBM7,O75431 11 |
| Abnormal toenail morphology 0.3249138004961028 0.5070605391647747 0.6121123417167289 1.0 0.9012559545316552 40 Q15056,O75844,P23786,P35250,Q14738,Q9Y4P3,Q14739 7 |
| Abnormal shoulder morphology 0.3416377715272062 0.5037687752688602 0.614423872271652 1.0 0.9034563786760362 26 Q9Y619,Q6ZXV5,Q15056,O96019,P35250,Q9Y4P3,O75648 7 |
| Horizontal eyebrow 0.5200691508647168 0.5025184781063053 0.6153028577494375 1.0 0.904051563904656 4 P11233 1 |
| Generalized abnormality of skin 0.3196477395919923 0.5021159189653698 0.6155859829992001 1.0 0.904051563904656 176 Q86YV9,Q06136,P06280,P35250,P16278,Q15904,Q14739,O75306,O43772,Q16134,Q9NWM8,Q99519,Q14108,P61916,P13804,Q13126,O75844,P18074,P00374,P10619,P00403,Q9UBM7,Q15056,O75648,P04062,Q9Y4P3,Q9Y487 27 |
| Hyperconvex fingernails 0.481247047049297 0.5020302564881918 0.6156462379563246 1.0 0.904051563904656 6 P48651,O96028 2 |
| Abnormality of urine homeostasis 0.3127790795836182 0.4981184970795811 0.6184005239111958 1.0 0.9069777082385884 160 Q9Y619,O95721,P06280,P35250,P16278,P09601,P40939,P48735,O43772,Q16134,Q8NFF5,Q8NFH4,P23786,O43464,Q99519,Q14108,P13804,P18074,P00403,Q16836,P16219,O15460,Q15056,P04062,Q9Y4P3,Q5XKP0,P10253 27 |
| 3 methylglutaconic aciduria 0.4086371351454245 0.4980353335131212 0.6184591381522908 1.0 0.9069777082385884 10 Q5XKP0 1 |
| Coloboma 0.3275969112012578 0.4974074149260822 0.6189017777418844 1.0 0.9073260069447644 35 O43505,O75340,Q9UHX1,O96028,Q9UBM7,Q96EK5 6 |
| Hypoplasia of teeth 0.3672902294283988 0.4950945762669871 0.6205333621641622 1.0 0.907686350864358 16 P18074,P51648,O75844,O75431 4 |
| Erythroderma 0.44995070795462 0.4948377788218264 0.6207146344984571 1.0 0.907686350864358 7 P48449 1 |
| Overriding aorta 0.4143548544216316 0.4936342802932847 0.6215644863226961 1.0 0.907686350864358 9 Q15056,P35250 2 |
| Demyelinating peripheral neuropathy 0.379418838910441 0.4924077976604535 0.6224310879881525 1.0 0.907686350864358 13 P41440,Q9NR77 2 |
| Retinal arteriolar tortuosity 0.4139243784386415 0.4916583159019446 0.6229609106467677 1.0 0.9078447714640764 9 Q15056,Q9Y4P3,P35250 3 |
| Abnormality of the pituitary gland 0.297971296458541 0.4913637950685388 0.6231691663834971 1.0 0.9078447714640764 57 P48735,Q9UHX1,O75874 3 |
| Depletion of mitochondrial dna in muscle tissue 0.6090173236560441 0.4902272924141127 0.6239730700566799 1.0 0.90843742227146 3 Q9UBX3 1 |
| Abnormality of skeletal muscle fiber size 0.3707395508142138 0.4884116852070518 0.6252582666826212 1.0 0.909641170872327 15 Q13642,O95831,P22626,Q13501 4 |
| Abnormality of the scrotum 0.3214783366877547 0.4862381600044834 0.6267983185160473 1.0 0.909641170872327 41 Q9Y619,Q96GM8,P51809,P07437,O96019,Q6NUK1,P18074,Q15555,O75648,Q9UBM7,Q96EK5 11 |
| Abnormality iris morphology 0.2976162689878673 0.4855524579185132 0.6272845110778573 1.0 0.909641170872327 59 Q86YV9,O75340,Q9UHX1,Q15056,O96028,P35250,Q02978,Q9NR77,Q9Y4P3,Q9UBM7,Q96EK5 11 |
| Abnormal uvea morphology 0.2954958257719189 0.4842472804754747 0.6282103857976404 1.0 0.909641170872327 77 Q9Y619,Q86YV9,O75340,Q9UHX1,Q15056,O96028,P35250,Q02978,Q9NR77,Q9Y4P3,P40939,Q5XKP0,Q9UBM7,Q96EK5 14 |
| Agenesis of incisor 0.5660685154975618 0.4838043427963816 0.6285247327214272 1.0 0.909641170872327 2 P54132 1 |
| Decreased pulmonary function 0.606816970810764 0.4832169481177009 0.6289417027410484 1.0 0.909641170872327 3 Q969G3 1 |
| Abnormality of muscle size 0.3094727958377886 0.483074022944735 0.6290431780080517 1.0 0.909641170872327 155 P04792,Q92804,P35250,Q9NR77,P16278,Q15120,Q13501,P07737,Q15165,Q9NWM8,Q13510,Q99720,Q99519,Q9BVA1,Q13126,O95831,Q9BW83,Q6DKK2,Q15056,Q96GM8,P22626,P35637,Q9Y4P3,O14979,Q9Y487,P10253 26 |
| Oligohydramnios 0.3512991931961338 0.4824962303181022 0.6294534756795382 1.0 0.909641170872327 21 Q9UHX1,P16435,P14923,P23786,Q6NUK1,P49366,Q07021 7 |
| Recurrent otitis media 0.3579339421977628 0.480237849242119 0.6310582764031387 1.0 0.909641170872327 18 Q14739 1 |
| Subcutaneous hemorrhage 0.3310773941028906 0.4800802991568992 0.6311702962082935 1.0 0.909641170872327 32 Q14108,Q13126,P04062,Q9NWM8,Q99519 5 |
| Abnormal acetabulum morphology 0.3731810365363971 0.4786989321322386 0.6321528256110245 1.0 0.909641170872327 14 P16278 1 |
| Increased circulating gonadotropin level 0.4109524442330811 0.4780614008733042 0.6326065038181714 1.0 0.909641170872327 9 P82650,Q06787,P16435,P51809 4 |
| Abnormal pupil morphology 0.3956495261774309 0.47722661037471 0.6332007641666093 1.0 0.909641170872327 11 O96028,Q96ST3,Q13363,Q9NR77,Q12948 5 |
| Sparse body hair 0.4105213573431776 0.4760957437084211 0.6340061691584691 1.0 0.909641170872327 9 P04080,P48449,P14923,Q9BZH6,Q06787 5 |
| Rectal prolapse 0.4168221705017534 0.4759446501166887 0.6341138111137066 1.0 0.909641170872327 8 Q15056,P35250 2 |
| Elevated circulating alanine aminotransferase concentration 0.410456111515514 0.4757983858741065 0.6342180199224252 1.0 0.909641170872327 9 P10253,Q15904 2 |
| Short ribs 0.4166223688790073 0.4750630194435914 0.6347420559166865 1.0 0.909641170872327 8 Q14739 1 |
| Aplasia hypoplasia of the patella 0.4902991103312569 0.4745847741565101 0.6350829608079913 1.0 0.909641170872327 5 Q9Y619,Q9Y5S9 2 |
| Hypoparathyroidism 0.4027275770388863 0.4701250692391524 0.6382656643923097 1.0 0.9113062329075085 10 P00403,P40939,Q8WYQ5 3 |
| Abnormal circulating protein concentration 0.2909174936861242 0.469192425898472 0.6389320988560252 1.0 0.9113062329075085 121 P35250,P09651,P40939,Q15120,Q5JRX3,P31483,Q13501,Q6ZXV5,O43772,Q8NFF5,Q8NFH4,P23786,Q9NWM8,P41440,O75340,Q16836,O95831,Q00059,O43505,Q9Y487,Q15056,P22626,Q13642,Q9Y4P3,Q5XKP0,O14979,O75648,Q9H0R6,P10253 29 |
| Aplasia hypoplasia involving the femoral head and neck 0.4725677736259539 0.468968502552514 0.6390921501246019 1.0 0.9113062329075085 6 O95831 1 |
| Hemifacial spasm 0.6012518860844316 0.4656511014855358 0.6414652586946352 1.0 0.912283228040634 3 Q969G3 1 |
| Myoclonic spasms 0.6012518860844316 0.4656511014855358 0.6414652586946352 1.0 0.912283228040634 3 Q969G3 1 |
| Profound sensorineural hearing impairment 0.5093028256819108 0.4646531153016771 0.6421798886081751 1.0 0.9127126116047424 4 Q9NR77 1 |
| Abnormality of humoral immunity 0.3103353222496486 0.4642049651761755 0.6425009042183996 1.0 0.9128755217982591 47 Q14108,P28070,P04062,P18074,Q9Y5S9,P09601,Q96J02,P17812,Q15904 9 |
| Tetraplegia 0.4012626365562125 0.4632561811186875 0.6431807505712601 1.0 0.9135479960747218 10 Q13423,O95831,O43681 3 |
| Death in adulthood 0.383490330854116 0.4619752192355632 0.644099091309664 1.0 0.9140996217649648 12 Q15056,P05067,P35250 3 |
| Abnormal circulating amino acid concentration 0.3187439575353687 0.4618496684936808 0.6441891297855291 1.0 0.9140996217649648 41 Q9Y619,P41440,O15382,P05067,P35270,P20674,Q5XKP0,Q99797 8 |
| Abnormality of the fontanelles or cranial sutures 0.2945525522785781 0.4613790038321435 0.6445267125173528 1.0 0.9142853269609532 73 Q9Y619,P21964,Q8NCH0,P16435,P07237,Q6NUK1,Q5SRE5,Q00577,P98175,P48651,Q16134,P13804,O75718,O75844,P18074,Q92785,P20674,Q9UM00,O95831,O75431,P61978,Q14738,Q9Y487,Q96AY3 24 |
| Abnormal pyramidal sign 0.279957022636539 0.4597535896852936 0.6456930990623149 1.0 0.915646225441686 104 Q9Y619,Q9NR77,P40939,P37198,Q13501,O75306,O15382,O60701,Q99720,Q8N0X7,P41440,P18074,O95831,Q15067,Q6DKK2,Q9NZ08,P17900,O95140,P35637,Q9Y263,O43681 21 |
| Hyperlipidemia 0.334312535914355 0.4562482024071064 0.6482115067700889 1.0 0.9177463170435668 27 P28070,P06280,O75844,P23786,P31751,O75431 6 |
| Aplastic hypoplastic toenail 0.3294294889068662 0.4549144031910816 0.649170820466576 1.0 0.918064764424366 31 Q15056,P23786,Q14738,P35250,Q9Y4P3,Q14739 6 |
| Dystrophic fingernails 0.4399313939498822 0.4539336203696618 0.6498766043485691 1.0 0.918595656930496 7 O75844 1 |
| Heterotaxy 0.5061298767848694 0.4536782243006774 0.6500604422298988 1.0 0.918595656930496 4 O96028 1 |
| Vocal cord paralysis 0.3602098414869844 0.4528219790686351 0.6506769356298596 1.0 0.9187698411397732 16 Q02978,Q9NR77,O95140 3 |
| Chronic hepatic failure 0.5964775141186441 0.4507744390227056 0.6521521256260676 1.0 0.9187698411397732 3 P40939 1 |
| Epistaxis 0.3681641159987942 0.4506894098205479 0.6522134160592703 1.0 0.9187698411397732 14 Q86YV9,O15460,P04062 3 |
| Abnormality of fluid regulation 0.2935346320228888 0.4506505952183464 0.6522413950372834 1.0 0.9187698411397732 128 Q14108,Q9NZ08,P28070,Q99519,Q15056,P06280,P04062,P07437,P35250,P23786,P10619,Q15555,Q9Y4P3,P16278,P40939,Q13510,Q9UBM7,Q14739 18 |
| Periventricular heterotopia 0.4032336167982027 0.4431307849488208 0.6576711392408834 1.0 0.9222929350993854 9 Q6NUK1,Q9UBM7 2 |
| Abnormality of the nasal bone 0.5936488712476754 0.4420472526338023 0.6584550128021369 1.0 0.9222929350993854 3 Q6NUK1 1 |
| Motor axonal neuropathy 0.3795867492724603 0.4419693020623345 0.658511420064483 1.0 0.9222929350993854 12 O95831,P22626 2 |
| Increased csf lactate 0.31647693286356 0.4416981565623384 0.6587076438360895 1.0 0.9222929350993854 41 Q8IUX1,O75306,Q8N183,Q9HC21,O43464,P00403,O95831,O43676,Q9P032,Q9Y375 10 |
| Proximal amyotrophy 0.3795299859914236 0.4416795773188133 0.6587210902055072 1.0 0.9222929350993854 12 P35637 1 |
| Head titubation 0.4365740823751237 0.4404249633766655 0.6596293479794892 1.0 0.9226883637296904 7 P35637 1 |
| Congenital hip dislocation 0.3446375595699862 0.438335988314395 0.6611427414248772 1.0 0.9235956574352774 21 Q15738,Q9UHX1,Q14738,Q9Y487,Q13642 5 |
| Coarctation of aorta 0.3283388171861411 0.4359242380377942 0.662891698797208 1.0 0.9235956574352774 30 Q9UHX1 1 |
| Polyhydramnios 0.3191685782351628 0.4357704815899473 0.6630032626423339 1.0 0.9235956574352774 37 Q9UBM7,O75844,Q14739 3 |
| Gray matter heterotopia 0.3416670055606589 0.4355619313871301 0.6631545961282006 1.0 0.9235956574352774 22 O43505,Q6ZXV5,Q9BVA1,Q86XL3,Q6NUK1,Q9UBM7 6 |
| Microcornea 0.3440659123595782 0.4345699855344879 0.6638745851337164 1.0 0.9235956574352774 21 Q9NWM8,Q15555,P07437,P18074 4 |
| Hypoplastic nipples 0.4064254179203914 0.4305710036770402 0.6667803285953449 1.0 0.924862649739892 8 P07437 1 |
| Hypersplenism 0.4334927306895714 0.428119224744094 0.6685643208376546 1.0 0.9251926269076768 7 Q14108 1 |
| Broad thumb 0.3430270535952379 0.4277360716832705 0.6688432846733532 1.0 0.9251926269076768 21 O75648,Q9UHX1,O96019 3 |
| Abnormality of metacarpal epiphyses 0.4772403313304886 0.4275894631830607 0.668950038627798 1.0 0.9251926269076768 5 O96028,Q13363 2 |
| Equinovarus deformity 0.4765917483783627 0.4252950269714621 0.6706216183614553 1.0 0.9257676086182012 5 Q9NR77 1 |
| Thoracic kyphoscoliosis 0.4606847072778379 0.4247055432551934 0.671051342348056 1.0 0.926071790079704 6 O75844 1 |
| Abnormality of circulating glucocorticoid level 0.3925681748819937 0.4229273061712173 0.6723482994495491 1.0 0.9267679500404103 10 P16435,Q13423,Q969G3,P10644,Q9H0R6 5 |
| Sparse or absent eyelashes 0.3420513821262092 0.4213298703193527 0.6735142212726597 1.0 0.9274450188944502 21 P48449 1 |
| Abnormal ureter physiology 0.3173721812262439 0.4206171556908777 0.6740346642770167 1.0 0.9274806366506588 37 Q9UHX1,Q15056,Q86XL3,P35250,Q9UBM7 5 |
| Gastrointestinal obstruction 0.3838024426249372 0.4194794348987166 0.674865781255048 1.0 0.928037245000122 11 Q01844,P18074 2 |
| Distal muscle weakness 0.3019413329472188 0.418699913860243 0.6754354586499418 1.0 0.928037245000122 49 P41440,O75340,P04792,O95140,Q99720,P22626,P35637,P09651,Q9NR77,Q96BR5,P40939,O95831,P31483,Q13501 14 |
| Bifid scrotum 0.4746693322762037 0.4185172969470626 0.6755689427876386 1.0 0.928037245000122 5 Q9UBM7 1 |
| Redundant neck skin 0.4955636942753046 0.4177774335975069 0.6761098514997139 1.0 0.928037245000122 4 Q9Y487,P82650 2 |
| Acanthosis nigricans 0.3913374200431632 0.4172821529166705 0.6764720410551748 1.0 0.928037245000122 10 P31751,P28070 2 |
| Psoriasiform dermatitis 0.5851581084023343 0.4162517218961539 0.6772258159164544 1.0 0.9282211911368076 3 P10321 1 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.3431509989287086 0.413438308745639 0.6792855122715842 1.0 0.9298916189344528 20 Q15056,O96028,Q9Y4P3,P35250 4 |
| High pitched voice 0.3903265314972112 0.4126578305547516 0.6798573247309969 1.0 0.9300986536607484 10 O75844,O75431,P07237 3 |
| Movement abnormality of the tongue 0.583761615761156 0.4120682117894232 0.6802894273795048 1.0 0.9301931191272376 3 P10253 1 |
| Puberty and gonadal disorders 0.292925882155151 0.4116935071124877 0.6805640846163676 1.0 0.9301931191272376 132 O95721,Q16740,P06280,P35250,P48735,O75874,Q14108,P48449,O75844,P18074,P00403,Q9BW83,Q9UBM7,Q15056,P04062,O96028,P51809,Q15555,Q9Y4P3 19 |
| Abnormality of prenatal development or birth 0.3144508245051676 0.4114158860969575 0.6807676071930517 1.0 0.9301931191272376 179 Q9Y619,Q9UHX1,P35250,P16278,P40939,Q9Y375,Q13501,Q14739,O75306,O43772,P23786,Q13510,Q99519,P61916,O75718,O75844,P18074,P10619,O43676,Q9UBM7,Q70HW3,Q15056,P04062,O96028,Q9Y4P3,Q9Y487 26 |
| Cough 0.3348228214624211 0.4074414995718753 0.6836837522997548 1.0 0.9333127272906836 23 Q9NR77,P04062,O15460 3 |
| Lipodystrophy 0.3222840988102696 0.3995263680380435 0.6895053988317668 1.0 0.9385467668708816 31 P28070,O75844,Q6NUK1,P31751,Q9Y487,O75431 6 |
| Abnormal myeloid cell morphology 0.4883330672701527 0.3938146189821737 0.6937179104468856 1.0 0.9403353717151623 4 P41440 1 |
| Functional abnormality of the gastrointestinal tract 0.3244271183889478 0.390959752446911 0.6958269857418302 1.0 0.941149450764665 215 Q9Y619,Q01105,Q9UHX1,P06280,P08183,P35250,Q01844,Q6NUK1,Q9NR77,P48735,P37198,P42892,Q14739,Q13501,O75306,Q6ZXV5,P07737,P05067,O75874,Q13510,Q99720,Q99519,Q14108,Q9BUF5,P61916,P18074,P00403,Q15067,Q9UBM7,Q9NZ08,O15460,Q15056,P04062,O96028,P35637,Q03164,Q9Y4P3 37 |
| Abnormality of the sense of smell 0.3496495680641799 0.3908170233159705 0.6959324909613205 1.0 0.941149450764665 16 O95140,P04062,O43464,Q969G3,Q9BW83 5 |
| Regional abnormality of skin 0.2774850646956486 0.3905473090004988 0.6961318795595082 1.0 0.941149450764665 108 Q9UHX1,Q15056,Q06136,O75648,O95721,P61978,O96028,P35250,P18074,Q6NUK1,O96019,Q9Y4P3,Q96J02,Q9Y487,Q9UBM7,O75431,Q14739 17 |
| Abnormal spermatogenesis 0.369282359974575 0.3899730207800289 0.6965564969620268 1.0 0.941149450764665 12 P16435,P04062,P51809,Q9BZH6,Q13423 5 |
| Abnormal large intestine physiology 0.3691838560682642 0.3894820634537286 0.6969195765542309 1.0 0.941149450764665 12 P06280,P21964,O43681 3 |
| Aphasia 0.317968023763507 0.3889171704009329 0.6973374200253171 1.0 0.941149450764665 33 Q15738,P21964,P05067,P22626,O96019,P00403,O75648,P31483,Q13501 9 |
| Cirrhosis 0.319417933237412 0.3882294270033577 0.6978462580921487 1.0 0.941149450764665 32 Q14108,P04062,Q14739 3 |
| Opisthotonus 0.3391295924414447 0.3877412658900723 0.6982075144453299 1.0 0.941149450764665 20 P35637,Q99720,P04062,P11117 4 |
| Hypogonadism 0.2878482354518321 0.3875545637615791 0.6983456986545247 1.0 0.941149450764665 75 P48449,Q15056,O95721,Q16740,O75844,P51809,P35250,P18074,P00403,Q15555,Q9BW83 11 |
| Muscle fiber atrophy 0.3430092373080937 0.3875333426639621 0.6983614056996679 1.0 0.941149450764665 18 P61978,P23786,P22626,P35637,Q99720 5 |
| Soft skin 0.4230131330203878 0.3869702632756436 0.698778222702904 1.0 0.941424331104156 7 Q13126 1 |
| Abnormal circulating bilirubin concentration 0.3287009109059229 0.3845780369590224 0.7005500688828743 1.0 0.9423762027581974 24 P41440,P23786,Q14739 3 |
| Long eyelashes 0.3202677352860156 0.384024036118758 0.7009606326252094 1.0 0.9424987758226432 31 Q9Y619,Q9UHX1,Q6NUK1,Q03164,P20674,Q969G3 6 |
| Diabetes insipidus 0.3678476269515837 0.3828341458689402 0.7018427419664055 1.0 0.9424987758226432 12 O15460 1 |
| Long penis 0.5350734094616708 0.3824937198573541 0.7020951862610285 1.0 0.9424987758226432 2 O00170 1 |
| Impaired distal proprioception 0.5350734094616704 0.382493719857352 0.7020951862610301 1.0 0.9424987758226432 2 Q6PI48 1 |
| Abnormality of visual evoked potentials 0.3480137541325653 0.3813376018291497 0.7029527555320683 1.0 0.9427475039991552 16 O75503,O43681 2 |
| Gastroparesis 0.4486907199151929 0.3813311322014862 0.7029575555480927 1.0 0.9427475039991552 6 O43464,P61978 2 |
| Progressive spasticity 0.3581052477146955 0.3784274689954253 0.7051130654728879 1.0 0.9439210316545348 13 Q9Y263,P17900,O43681 3 |
| Enlarged ovaries 0.5711488384195575 0.3750750470999192 0.7076046541471945 1.0 0.9460004524472024 3 P10644 1 |
| Radioulnar synostosis 0.3500336271429761 0.3705713209533434 0.7109568460899054 1.0 0.9467312663845274 15 Q15056,O96028,P35250 3 |
| Abnormal pattern of respiration 0.297472156195773 0.3674799112994667 0.7132610737211835 1.0 0.948566336816444 147 Q9Y619,Q9UHX1,P06280,Q92804,Q13501,O75306,O43772,P07737,Q16134,P23786,Q15165,Q13510,P13804,O75844,P16219,O95831,Q96GM8,P22695,P04062,P35637,P10253 21 |
| Decreased circulating cortisol level 0.4177487363825518 0.3667351368547872 0.7138165945333146 1.0 0.948566336816444 7 Q13423,Q9H0R6,Q969G3 3 |
| Abnormality of the nasal dorsum 0.3079309796188019 0.3663818982959168 0.71408012518919 1.0 0.948566336816444 41 O95721,P61978,O75844,O96028,Q6NUK1,P18074,P16278,Q96J02,O75431 9 |
| Spastic tetraplegia 0.3164886820138115 0.3654529432479251 0.7147733270116707 1.0 0.948812252512791 32 P16278,O43681 2 |
| Finger syndactyly 0.3309548728659895 0.3643313982766433 0.715610556243514 1.0 0.94887026537273 22 Q9Y619,Q9Y2U8,P98175,P48651,Q9Y5S9,Q9BW83,Q9UBM7,Q96EK5 8 |
| Caesarian section 0.4791836734693824 0.3642448830046235 0.7156751538058845 1.0 0.94887026537273 4 Q96EY7,O60313,O14802 3 |
| Central hypoventilation 0.458178858228672 0.3618686405157468 0.7174501952844594 1.0 0.9509386316281584 5 O75306 1 |
| Abnormal morphology of the abdominal musculature 0.4577378215151147 0.3603920834666985 0.7185539459309607 1.0 0.9514800941206176 5 Q6NUK1,P09651 2 |
| Astrocytosis 0.4426913885402863 0.3601710885431644 0.7187191938632111 1.0 0.9514800941206176 6 Q13501 1 |
| Abnormal ureter morphology 0.3511749912436772 0.3580151949855082 0.7203319422852059 1.0 0.9530446248063016 14 O75844 1 |
| Abnormal thorax morphology 0.3062125876943469 0.3564592134855218 0.7214966916024388 1.0 0.9537791066604632 168 Q9Y619,Q9UHX1,P35250,P07237,P16278,Q13501,Q14739,Q6ZXV5,P07437,Q13510,Q99519,Q15738,O75340,O75718,O75844,O96019,P18074,Q9Y5S9,O95831,Q9UM00,Q96J02,Q9UBM7,O75431,Q15056,O75648,P61978,P51648,P04062,O96028,Q9Y263,Q03164,Q15555,Q9Y4P3,P54802,Q9Y487,Q13642 36 |
| Impaired vibratory sensation 0.3269650780757001 0.3544020074624077 0.7230376303338999 1.0 0.9551957703007286 23 Q9Y619,Q9NR77,Q8N0X7,Q15120 4 |
| Cutis laxa 0.3238354551268195 0.3511634928113116 0.7254656967183117 1.0 0.9570103151096166 24 Q15056,P35250,Q9Y4P3,Q9Y487,Q15904 5 |
| Abnormality of the spinal cord 0.2867758714978392 0.3509384542880499 0.7256345215797191 1.0 0.9570103151096166 53 Q9UHX1,Q15056,P05067,O96028,P35250,P16278 6 |
| Frontal balding 0.523654159869503 0.3479043486391303 0.7279120193125643 1.0 0.9587715489635116 2 O60828 1 |
| Abnormal male reproductive system physiology 0.3133191121157306 0.3409650057868746 0.7331299261666933 1.0 0.962777215984348 32 Q15056,P16435,P04062,P51809,O43464,Q9BZH6,P35250,Q13423,Q9Y4P3,Q969G3,Q06787 11 |
| Telecanthus 0.310212537653023 0.3403093267829102 0.7336235941229943 1.0 0.9631395538159704 34 P13804,Q16134,Q86XL3,O75844,Q03164 5 |
| Accessory spleen 0.4365990129551341 0.3390735993529074 0.7345542862517713 1.0 0.964075254626583 6 O96028,Q15904 2 |
| Pointed chin 0.3215651199966817 0.3356987031890823 0.7370980838372065 1.0 0.9657467238114056 24 Q15056,P35250,Q9Y4P3,P11233,Q96EK5 5 |
| Episodic pain 0.372922098305904 0.3349356316873649 0.7376736427337007 1.0 0.9661624287270236 10 Q02978,P23786 2 |
| Functional motor deficit 0.2739632419427831 0.3332296466926276 0.7389609409140845 1.0 0.9664079359818118 109 P04792,Q9NR77,P40939,Q15120,P10644,P31483,P37198,Q13501,Q8NFF5,P23786,Q969G3,Q9H2D1,Q9NWM8,Q13510,Q99720,Q8N0X7,Q8IUX1,O75340,Q8NC96,Q15041,Q9HC21,P00403,Q15067,P12235,O95140,P61978,P04062,P35637,Q07021,Q13642,O43681 31 |
| Cerebellar atrophy 0.2729970713104111 0.333019880384636 0.7391192764907486 1.0 0.9664079359818118 99 Q13155,Q10713,Q5JRX3,P57081,Q13501,Q4G0N4,Q16795,Q8IV08,P07437,Q13217,Q96BR5,O75503,O14773,Q9Y3E5,P18887,Q8N0X7,Q14108,P41440,Q9BVA1,Q96S52,Q13363,P18074,P12235,Q6DKK2,P13073,O15160,Q9NQT5,Q9Y263,Q06787,Q5XKP0,O75648 31 |
| Poor suck 0.3260757658702735 0.3324388491218137 0.7395579076095691 1.0 0.9666266623395756 22 O75306,P22695,O43464,P40939,O75648,Q9UBM7 6 |
| Decreased activity of mitochondrial complex iv 0.3461409908605972 0.3312982226522082 0.7404192336952584 1.0 0.9669827849713188 14 P13073,P52815,P20674,Q9Y2R0,Q9H0R6,Q70HW3 6 |
| Corneal neovascularization 0.4686180146524727 0.3312094905234046 0.7404862520230289 1.0 0.9669827849713188 4 P18074 1 |
| Aplasia hypoplasia of the radius 0.3488282323839125 0.3306013695327141 0.7409456115983346 1.0 0.9671030535633652 13 Q9UBM7,Q9Y5S9,Q96AY3,P10644 4 |
| Irritability 0.2838088887604364 0.3302192405589698 0.7412343096495158 1.0 0.9671030535633652 66 Q9NZ08,O43772,P50897,O95831,Q13510,Q13501 6 |
| Abnormality of pelvic girdle bone morphology 0.2749436083139433 0.3297879631494881 0.7415601830540752 1.0 0.9672429046441092 111 Q9Y619,Q9UHX1,P35250,P16278,Q14739,Q15738,O75718,O75844,O96019,Q9Y5S9,O95831,Q9UBM7,O75431,Q9Y487,Q15056,P61978,O96028,Q14738,Q9Y4P3,O75648 20 |
| Joint hemorrhage 0.5171288743882663 0.328862074409139 0.74225994150692 1.0 0.9678702008505624 2 P49257 1 |
| Myotonia 0.4074376787903608 0.3280183017897736 0.7428978247055107 1.0 0.9684164688100424 7 P50402,Q13642,P02545,Q9BTV4,Q00577,Q8WXH0 6 |
| Aplasia hypoplasia involving bones of the lower limbs 0.283522809110858 0.3270326181918005 0.7436432146942997 1.0 0.9686717965448768 66 Q9Y619,O75431,Q9UHX1,Q13510,O96028,Q13363,O96019,Q03164,Q9Y5S9,O95831,Q06787,P10644,P55011,O75648,O00116,Q9UBM7,Q8N0X7 17 |
| Osteopenia 0.2834477903032734 0.3270225080111473 0.7436508614237645 1.0 0.9686717965448768 63 Q14108,Q15056,Q13126,O75718,O75844,P04062,P35250,P18074,Q9Y4P3,Q9NWM8,Q9Y487 11 |
| Abnormal phalangeal joint morphology of the hand 0.3246340131121121 0.3230884270602226 0.7466282745323376 1.0 0.9690980136611884 22 Q9Y619,O75844 2 |
| Abnormality of the hypothalamus pituitary axis 0.2830005803938936 0.322839385164347 0.7468168836931177 1.0 0.9690980136611884 62 P48735,Q9UHX1,O75874 3 |
| Abnormality of the glabella 0.4460516674717437 0.3220519973261507 0.7474133029942971 1.0 0.969288233913914 5 O96028 1 |
| Abnormality of the liver 0.3238501584444726 0.3219227353114952 0.7475112290030208 1.0 0.969288233913914 233 Q9Y619,P28070,Q8N183,P21964,P35250,Q01844,P31751,P09651,P16278,P09601,P40939,O75880,P10644,Q15904,Q9Y375,Q14739,O75306,O43772,Q16134,P23786,Q969G3,Q13510,Q99519,Q14108,P61916,P13804,O75340,P00374,P10619,Q16836,P16219,P20674,O43676,Q15067,Q9Y5S9,Q96J02,Q9BW83,Q9UBM7,Q00059,O75431,O15118,Q15056,O95140,P04062,O96028,P22626,P54802,Q9Y4P3,Q9P032,Q5XKP0,O75648,P10253,O43681 53 |
| Decreased circulating iga level 0.3799747334719037 0.3204613101199819 0.748618655140814 1.0 0.9698712102190452 8 Q15904 1 |
| Neonatal onset 0.3280109250905878 0.3179060562041532 0.7505561985561471 1.0 0.9720966518927784 20 Q9P032,P16219,P40939,Q15904 4 |
| Abnormality of the nail 0.2754016852099912 0.3172317103975398 0.7510677901702345 1.0 0.972474483584001 93 Q9Y619,P10321,Q06136,P35250,Q6NUK1,P10644,P42892,Q14739,P48651,P23786,Q969G3,Q15738,O75844,Q13363,P18074,O75431,Q15056,O96028,Q14738,Q9Y4P3,Q9Y487,Q13642 22 |
| Aplasia cutis congenita of scalp 0.4436605049613135 0.3143997411442467 0.7532174527261377 1.0 0.9736157549601964 5 O96028 1 |
| Increased muscle lipid content 0.4036846570615957 0.3142451314375738 0.7533348675619729 1.0 0.9736157549601964 7 P23786 1 |
| Ventricular fibrillation 0.5491636066911519 0.3142323145811398 0.7533446012890537 1.0 0.9736157549601964 3 Q9NX14,P15924 2 |
| Abnormal hand morphology 0.280111660355725 0.3136738817901688 0.7537687396116304 1.0 0.9736157549601964 81 Q9UHX1,O75844,O95831,Q13510,Q9UBM7 5 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.4289215686274528 0.3130778002666763 0.7542215547083879 1.0 0.9736157549601964 6 P50402,Q15149,Q13642,Q9BTV4,Q8WXH0 5 |
| Progressive microcephaly 0.3096678659343726 0.3129745419135983 0.7543000038145284 1.0 0.9736157549601964 32 Q96GM8,O95721,Q9HC21,Q9Y263,P50897,Q9Y487,Q9Y3E5 7 |
| Deviation of the hallux 0.314271065139283 0.3111786974266138 0.7556647766520439 1.0 0.9737894013943156 27 Q15056,P04062,O96019,P35250,Q9Y4P3,Q96J02,O75648 7 |
| Deep palmar crease 0.3605505039115921 0.3109348853041203 0.7558501234067259 1.0 0.9737894013943156 11 Q96AX1,P98175,P61978,Q6NUK1,Q9Y487,O75431 6 |
| Abnormal aortic morphology 0.2773044154408839 0.3105744400913066 0.756124160748759 1.0 0.9737894013943156 88 O15460,Q9UHX1,Q15056,Q6ZXV5,P61978,P04062,O75844,P35250,Q6NUK1,O96019,Q9Y4P3,Q9Y5S9,Q9NWM8,O75648,Q9UBM7,Q8WYQ5 16 |
| Abnormal enzyme coenzyme activity 0.2938691721861424 0.3102680797402889 0.7563571028642486 1.0 0.9737894013943156 148 Q9Y619,P28070,P16278,P40939,Q5JRX3,Q15904,Q13501,Q14739,O43772,O15382,P23786,Q13510,P41440,P61916,O75340,P10619,Q16836,P20674,Q15067,Q00059,O75431,O43505,P22695,P04062,P22626,Q5XKP0,O75648,P10253 28 |
| Cerebellar cyst 0.3115449208472997 0.3094308581558936 0.7569937999730729 1.0 0.9737894013943156 30 Q9Y487,Q9UBM7,P07437 3 |
| Abnormal ovarian morphology 0.3225054241679546 0.3093483136727603 0.7570565830164244 1.0 0.9737894013943156 22 Q15056,P16435,P51809,P35250,Q9BZH6,P31751,Q9Y4P3,P82650,P10644,Q9BW83 10 |
| Abnormality of the clitoris 0.335351473852715 0.3092674360103241 0.757118099836775 1.0 0.9737894013943156 16 Q9Y619,Q9UBM7,Q96GM8 3 |
| Glomerular deposits 0.5101957585644492 0.3092292714158819 0.757147128961124 1.0 0.9737894013943156 2 P57740 1 |
| Congenital malformation of the great arteries 0.2790104347495827 0.3079688151721408 0.7581060616996336 1.0 0.9746167064305064 83 O15460,Q9UHX1,Q15056,Q6ZXV5,O75844,Q15392,P35250,Q6NUK1,Q9Y4P3,Q9Y5S9,Q969G3,Q9NWM8,Q9UBM7,Q8WYQ5,P42892 15 |
| Amniotic constriction ring 0.5077487765089779 0.302451048610465 0.7623082445464562 1.0 0.9775516223008376 2 Q9H4L7 1 |
| Muscle fiber inclusion bodies 0.3754115842866993 0.3023603974697539 0.7623773409413555 1.0 0.9775516223008376 8 O75340,O43676 2 |
| Joint laxity 0.2808110656430801 0.3012701002969054 0.7632085388750176 1.0 0.9776053771920656 60 Q9Y619,Q9UHX1,Q8NCH0,P35250,P16278,Q32P28,Q96C86,Q9BZH6,Q969G3,O75340,Q96S52,Q92785,P55795,Q96A33,Q15233,Q15056,P61978,P36543,Q9Y4P3,Q06787,Q9Y487,Q96AY3 22 |
| Renal hypoplasia aplasia 0.2807975957703739 0.2998834980548356 0.7642660220195772 1.0 0.97839323166211 61 O75306,Q9UHX1,Q15056,Q9UBM7,Q86XL3,P35250,Q15392 7 |
| Abnormal left ventricle morphology 0.3161885741877882 0.2994265915594905 0.764614575205044 1.0 0.97855621126502 24 P06280,P10253,Q6NUK1,P00403,P78536,P40939,O75880,Q07021,P12235,O75431 10 |
| Abnormal glucose homeostasis 0.2939601140459509 0.2980144934571241 0.7656921017783374 1.0 0.979651769211914 150 Q06136,P35250,P31751,Q13423,P40939,O75880,P10644,Q9Y375,O75306,O43772,Q16134,P23786,Q9BZH6,Q9Y3E5,P13804,O75844,P00403,Q16836,P16219,O43676,Q96J02,Q00059,O75431,Q15056,O95140,P17096,P22695,Q14738,Q15555,Q9Y4P3,Q5XKP0,Q9H0R6,Q9P032,Q8N183 34 |
| Impaired t cell function 0.3737749004827766 0.2959392977811009 0.7672764392110603 1.0 0.9808276562515952 8 Q8WYQ5,P17812 2 |
| Supernumerary spleens 0.3969780528916681 0.2900821706534859 0.7717533754068275 1.0 0.9834177512774448 7 O96028,Q15904 2 |
| Abnormality of the pharynx 0.299802916020749 0.2890985820284293 0.7725059386694828 1.0 0.9834177512774448 40 Q86YV9,O15460,P21964,P54802,Q969G3,P16278,Q13510 7 |
| Recurrent paroxysmal headache 0.371033445630488 0.285270501615036 0.7754369106049008 1.0 0.9842457667564106 8 Q02978,P00403 2 |
| Brain imaging abnormality 0.318683802579618 0.2848822898930423 0.7757343246418846 1.0 0.9842457667564106 22 P00403,O75306,Q13501 3 |
| Macroorchidism 0.4529436699826596 0.2845650146878623 0.7759774177222589 1.0 0.9842457667564106 4 P38159 1 |
| Protrusio acetabuli 0.5372979094994332 0.2834698986374077 0.7768166531416729 1.0 0.9842457667564106 3 O75718 1 |
| Gait imbalance 0.3240877891049384 0.2833462494806358 0.7769114272973845 1.0 0.9842457667564106 19 Q9NR77,Q15056,Q9Y4P3,P35250 4 |
| Progressive external ophthalmoplegia 0.370286666340181 0.2823833759194125 0.7776495606235949 1.0 0.9842457667564106 8 P00403,P16219,P12235 3 |
| Multiple joint contractures 0.3305030431712816 0.2823492904540092 0.7776756940273442 1.0 0.9842457667564106 16 P41440,O75844 2 |
| Facial edema 0.310553038175997 0.2815277425539311 0.7783056526896024 1.0 0.9842457667564106 26 P28070,Q15056,P35250,Q9Y4P3,Q99519 5 |
| Abnormal cerebral artery morphology 0.3467283249632423 0.2810546345245544 0.7786684956144589 1.0 0.9842457667564106 12 P10253 1 |
| Cerebellar malformation 0.2960301172483793 0.2797568851719006 0.7796640319906962 1.0 0.984428779187796 43 Q15056,P23786,P07437,P35250,Q9Y4P3,Q969G3,Q9Y487,Q9UBM7 8 |
| Abnormal protein glycosylation 0.3463632926162697 0.2793552942230357 0.7799721758864733 1.0 0.9844900105852928 12 Q9Y487,Q15904 2 |
| Abnormality of the pubic bone 0.4508893164444124 0.2786725957368408 0.7804960951240827 1.0 0.9846361177221384 4 O96028 1 |
| Abnormality of the pulmonary vasculature 0.306723307531745 0.274019106267561 0.7840699387443593 1.0 0.985152849949086 30 Q15056,O75718,P35250,Q9Y4P3,O75648,Q15392,Q8WYQ5 7 |
| Increased serum iron 0.5333376266159441 0.2735447412665798 0.7844345046832588 1.0 0.985152849949086 3 Q658P3 1 |
| Hyperreflexia 0.3069527633832201 0.2725354547911117 0.7852103336255964 1.0 0.985152849949086 185 Q9Y619,Q86XL3,Q13409,P35250,Q9NR77,Q5JRX3,O14949,P37198,Q13501,Q14739,O75306,O15382,O43464,O60701,O75503,Q99720,Q8N0X7,Q99519,O75340,Q9BVA1,P18074,P20674,O95831,Q15067,Q6DKK2,Q9NZ08,P17900,Q15056,Q96GM8,P04062,P35270,P35637,Q15555,Q9Y4P3,Q5XKP0,O43681 36 |
| Blue irides 0.3677024882623901 0.2724568668423403 0.785270752402496 1.0 0.985152849949086 8 Q15056,Q9Y4P3,P35250 3 |
| Reduced brain n acetyl aspartate level by mrs 0.4963295269168155 0.2718906763669898 0.7857060804610676 1.0 0.985152849949086 2 Q9NZJ7 1 |
| Abnormal brain choline level by mrs 0.4963295269168155 0.2718906763669898 0.7857060804610676 1.0 0.985152849949086 2 Q9NZJ7 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.4963295269168155 0.2718906763669898 0.7857060804610676 1.0 0.985152849949086 2 Q9NZJ7 1 |
| Abnormality of hair pigmentation 0.3165324611319883 0.2712295704135913 0.7862144711881676 1.0 0.985152849949086 22 Q86YV9,Q9Y2Q5,Q13126,Q9UM00,P10644,Q9UBM7 6 |
| Abnormality of the pulmonary artery 0.3092767434234556 0.2704372914808937 0.7868238540645538 1.0 0.985152849949086 25 Q15056,O75718,P35250,Q9Y4P3,O75648,Q8WYQ5 6 |
| Middle age onset 0.3671408874025457 0.2703129337629962 0.7869195159100433 1.0 0.985152849949086 8 P31930 1 |
| Ventricular escape rhythm 0.4287464271131057 0.2682460303229599 0.78850994576244 1.0 0.9863064168855408 5 Q13642,Q9BTV4,Q8WXH0,P50402 4 |
| Abnormal muscle fiber protein expression 0.4287464271131057 0.2682460303229599 0.78850994576244 1.0 0.9863064168855408 5 Q13642,Q9BTV4,Q8WXH0,P50402 4 |
| Cogwheel rigidity 0.5308018647979137 0.2672817566549624 0.7892522320509681 1.0 0.9869466990712183 3 P37198 1 |
| Abnormal 5th finger morphology 0.2776087587824423 0.266537335579376 0.789825409360492 1.0 0.9871143785254184 74 Q9Y619,Q9UHX1,Q15056,Q8NFH4,P35250,Q9Y263,Q03164,Q9Y5S9,Q9Y4P3,Q969G3,Q9UM00,Q9BW83,Q9UBM7,Q14739 14 |
| Hypermetropia 0.2961553507164702 0.2647104711743243 0.7912325103421503 1.0 0.9877975342857322 41 Q9UHX1,Q15056,P35250,Q9Y4P3,Q15904,P68371 6 |
| Extra axial cerebrospinal fluid accumulation 0.4934747145187655 0.26453202435836 0.7913699915243182 1.0 0.9877975342857322 2 P20700 1 |
| Petechiae 0.3559962016410611 0.2632812608610286 0.7923338019972175 1.0 0.9880159025186616 10 P04062,Q99519 2 |
| Increased nuchal translucency 0.3300625162787506 0.2625425348511001 0.7929031969937228 1.0 0.98844724923992 15 Q9UBM7,Q15056,Q9Y4P3,P35250 4 |
| Pectus carinatum 0.310525964912072 0.2618064856121005 0.7934706386335346 1.0 0.9887062875116244 24 Q9Y619,Q96S52,P08236,Q9Y263,P16278,P55011,Q96AY3,Q99519 8 |
| Obsessive compulsive behavior 0.3015791874595412 0.2614495474201019 0.7937458519981138 1.0 0.9887062875116244 33 Q15056,P35250,Q9Y4P3,O75503,Q6DKK2,Q13501 6 |
| Aplasia hypoplasia of the extremities 0.2847760713872749 0.2614031834886499 0.7937816022956767 1.0 0.9887062875116244 137 Q9Y619,Q9UHX1,Q6NUK1,P48735,Q15392,Q14739,O75874,Q969G3,Q13510,Q8N0X7,Q15738,O75718,O75844,O96019,Q9Y5S9,O95831,Q9UBM7,Q96EK5,O96028,Q03164,Q15555,O75648 22 |
| Biventricular hypertrophy 0.4918433931484612 0.2603785447314269 0.7945717911575689 1.0 0.9891652476559925 2 P36543 1 |
| Adult onset 0.276393884068056 0.259447386752935 0.7952900716771609 1.0 0.9895678667508366 57 P41440,O15118,P04792,P17096,P31930,Q8IV08,P04062,P31751,O14979,Q969G3,P12235,Q06787,Q13642,P31483,Q9UJV9 15 |
| Abnormal chromosome morphology 0.4914355628058832 0.2593460532475983 0.7953682492198111 1.0 0.9895678667508366 2 O95453 1 |
| Polymicrogyria 0.2763590666018945 0.2552099470419471 0.7985609487679981 1.0 0.9906247697804196 59 Q15738,Q01105,Q6ZXV5,Q9BVA1,O95721,P07437,P23786,Q9Y487,Q15392,Q96EK5 10 |
| Depressed nasal ridge 0.3219829054273352 0.2551299764597954 0.7986227122100185 1.0 0.9906247697804196 17 P16278 1 |
| Pseudoepiphyses of hand bones 0.4423534795182531 0.2547639853276758 0.7989053931283645 1.0 0.9906247697804196 4 O96028 1 |
| Pseudoepiphyses 0.4423534795182531 0.2547639853276758 0.7989053931283645 1.0 0.9906247697804196 4 O96028 1 |
| Pseudoepiphyses of the metacarpals 0.4423534795182531 0.2547639853276758 0.7989053931283645 1.0 0.9906247697804196 4 O96028 1 |
| Impaired collagen induced platelet aggregation 0.4885807504078314 0.2521847782559086 0.8008982431225202 1.0 0.9920967596813688 2 P27797 1 |
| Retrognathia 0.276567909592558 0.250556710094254 0.8021568545271363 1.0 0.9927083848834706 65 Q9Y619,Q9UHX1,O75844,P04062,Q15392,Q8WYQ5 6 |
| Patent ductus arteriosus 0.2764611435677929 0.2493558101732922 0.803085564051095 1.0 0.9930463505978588 70 Q6ZXV5,Q9UHX1,Q15056,Q9UBM7,O75844,P35250,Q6NUK1,Q9Y4P3,Q969G3,Q9NWM8,Q15392,P42892 12 |
| Abnormal prolactin level 0.4403643301005593 0.2493282061239372 0.8031069147698946 1.0 0.9930463505978588 4 Q969G3 1 |
| Slender long bone 0.339549202532196 0.2480499916086343 0.8040957274622522 1.0 0.9934400565825536 12 Q9Y619,P37268,Q9Y487,Q96J02 4 |
| Abnormality of coordination 0.3218695081964735 0.243669423632628 0.8074868560715482 1.0 0.9959605031802726 252 Q9Y619,Q01105,O95721,P35250,P50897,Q9NR77,P16278,P40939,Q5JRX3,O14949,P31483,Q9Y375,Q13501,O75306,P05067,Q8IV08,P07437,Q8WWV3,O75503,Q13510,Q99720,Q99519,Q14108,P41440,P61916,O00584,Q9BVA1,P18074,P00374,P00403,O95831,O43676,Q15067,Q6DKK2,Q9NZ08,O15460,Q15056,P04062,O96028,P35270,Q14738,P35637,Q9Y4P3,Q5XKP0,Q9Y487,O43681 46 |
| Secondary growth hormone deficiency 0.5200713932247679 0.2415910784913404 0.8090970356794975 1.0 0.9968345929834032 3 Q969G3 1 |
| Patellar aplasia 0.5197822357764231 0.2409172368773567 0.8096192624576495 1.0 0.9972002221805024 3 Q9Y619 1 |
| Oculomotor nerve palsy 0.4366961753758982 0.2394417218893283 0.8107630813207798 1.0 0.997486877048002 4 Q969G3 1 |
| Blistering by anatomical location 0.4832789559543251 0.2391949969818731 0.8109543819158962 1.0 0.997486877048002 2 Q9H4L7 1 |
| Milia 0.4832789559543251 0.2391949969818731 0.8109543819158962 1.0 0.997486877048002 2 Q9H4L7 1 |
| Acral blistering 0.4832789559543251 0.2391949969818731 0.8109543819158962 1.0 0.997486877048002 2 Q9H4L7 1 |
| Azoospermia 0.3438849750305305 0.2379577074201461 0.8119138966565098 1.0 0.997486877048002 11 Q9BZH6,Q13423,P04062,P51809 4 |
| Decreased absent ankle reflexes 0.3300390663691965 0.2379054495258751 0.8119544287420164 1.0 0.997486877048002 13 Q15120,Q13501,O95140,Q15041 4 |
| Fatty replacement of skeletal muscle 0.4052690796372426 0.2375269199060685 0.8122480376025059 1.0 0.997486877048002 6 Q8NFF5,P22626 2 |
| Long philtrum 0.2686386457488721 0.2368682570872431 0.8127589964379305 1.0 0.9977332892714312 94 Q9UHX1,Q15056,O75648,O75718,P07437,P35250,Q14738,Q03164,Q15555,Q9Y4P3,P16278,Q9Y487,Q9UBM7 13 |
| Exercise intolerance 0.3041486584179294 0.2360064422777747 0.8134276711537214 1.0 0.9982770781112402 25 Q8IUX1,Q8NFF5,P23786,P00403,P40939,Q07021,Q9H2D1,P12235 8 |
| Distal amyotrophy 0.2873318429759212 0.2339337655810058 0.8150363992517409 1.0 0.9991709011629358 46 P04792,O95140,Q99720,P35637,Q9NR77,Q96BR5,Q15120,Q13510,P31483,Q8N0X7,Q13501 11 |
| Restless legs 0.4343605358675737 0.233240685782939 0.8155745142419211 1.0 0.9992482206349076 4 O43464 1 |
| Acute hepatic failure 0.3361536504393342 0.2327569316417664 0.8159501579918178 1.0 0.9994316114089752 12 O75648,Q16836,P40939 3 |
| Primary adrenal insufficiency 0.3478460567863813 0.2303774926339535 0.8177984490985977 1.0 1.0 10 Q13423,Q9H0R6,Q969G3 3 |
| Delayed cranial suture closure 0.3028697971790713 0.2291510656931508 0.8187515045334093 1.0 1.0 26 Q8NCH0,O75718,P48651,P16435,O75844,Q9Y487,O75431 7 |
| Encephalopathy 0.273701283556871 0.2290201599032471 0.8188532471686853 1.0 1.0 78 Q9Y619,O75306,O43772,P04062,P23786,P00403,Q16836,P16219,P40939,O43676,Q9Y375 11 |
| Camptodactyly of toe 0.4023836080192677 0.2288156229142142 0.8190122235712707 1.0 1.0 6 Q13642,Q14738 2 |
| Abnormality of alkaline phosphatase level 0.3234547930461791 0.2283299795825185 0.8193897197116142 1.0 1.0 15 Q9UJS0,Q96S52,Q14739,P22626,P09651,Q96AY3,Q13501 7 |
| Personality changes 0.3231089037978196 0.226562655085952 0.8207638340821428 1.0 1.0 15 P00403,P04062,Q13501 3 |
| Redundant skin 0.3110192805015612 0.2251904259852661 0.8218311371458855 1.0 1.0 21 Q9Y487,Q15056,Q9Y4P3,P35250 4 |
| Bone marrow foam cells 0.4308324054370317 0.2240142075298642 0.8227462481417505 1.0 1.0 4 P61916,Q99519 2 |
| Abnormality of the tonsils 0.4006183618757476 0.2235436613358433 0.823112405897712 1.0 1.0 6 P31751 1 |
| Wide mouth 0.2782156665973038 0.2227428498640392 0.8237356496631425 1.0 1.0 51 Q01105,Q15056,P55011,P48651,P35250,Q92785,Q9Y4P3,P16278,Q969G3,Q9UM00,P15586,P57081,Q9UBM7 13 |
| Abnormality of tibia morphology 0.350242416739211 0.2226869609244428 0.8237791502392886 1.0 1.0 9 Q9Y5S9,P16435,O95831 3 |
| Quadriceps muscle weakness 0.5112144425272875 0.2213994314117386 0.8247814351126304 1.0 1.0 3 O95140 1 |
| Psychosis 0.3016869834061768 0.2212037073280738 0.8249338227293102 1.0 1.0 26 P61916,O15118,P00403,P16219,Q5JRX3,Q6DKK2,Q8N0X7,Q13501 8 |
| Coarse hair 0.324475782603035 0.2210862012613548 0.8250253142287167 1.0 1.0 14 P36543,Q6NUK1,P54802,Q9UM00,P15586,Q9Y487,Q96A33 7 |
| Abnormal urine phosphate concentration 0.4747145187601954 0.2190744640462538 0.8265920423496316 1.0 1.0 2 O14745 1 |
| Hyperphosphaturia 0.4747145187601954 0.2190744640462538 0.8265920423496316 1.0 1.0 2 O14745 1 |
| Renal tubular atrophy 0.5095879232966195 0.2177930434165093 0.8275903650172178 1.0 1.0 3 Q96AX1,P57740 2 |
| Butterfly vertebrae 0.4738988580750508 0.2172144487003928 0.828041225055351 1.0 1.0 2 Q9Y2W2 1 |
| Abnormal circulating non proteinogenic amino acid concentration 0.3979875856284358 0.2157686594469131 0.8291680790072202 1.0 1.0 6 Q9Y619 1 |
| Vertigo 0.3093437369155358 0.2151133184884439 0.829678970317687 1.0 1.0 21 Q9NZ08,O15460 2 |
| Hyperthyroidism 0.3976923209999899 0.2149022036911706 0.8298435667355544 1.0 1.0 6 P21964,P12235 2 |
| Abnormal circulating estrogen level 0.343865216403227 0.2147195212170713 0.8299860018165994 1.0 1.0 10 Q969G3,P82650,P16435,P51809 4 |
| Cataplexy 0.5071914437370286 0.2125375913082723 0.8316876539842852 1.0 1.0 3 P61916 1 |
| Waddling gait 0.3130128616941794 0.2112790867362864 0.8326695009528375 1.0 1.0 18 O75340,Q13510,P22626,Q13642 4 |
| Aplasia hypoplasia of the skin 0.2783543158434325 0.2068467004571038 0.8361295830639075 1.0 1.0 50 Q9Y619,Q6ZXV5,Q8NCH0,P48651,Q13126,O75844,Q13363,O96028,Q03001,P18074,Q06787,P10644,Q9NWM8,Q15392,P17612,O75431 16 |
| Vestibular dysfunction 0.3019193576094857 0.2059169445173979 0.8368557892706541 1.0 1.0 24 Q9NZ08,P41440,P06280,O15460 4 |
| Abnormal circulating gonadotropin concentration 0.3298280598171692 0.2048441866543547 0.8376938629895974 1.0 1.0 12 P16435,P51809,Q969G3,Q06787,P82650 5 |
| Abnormal shape of the frontal region 0.2723485699821311 0.2045599809864464 0.8379159247029717 1.0 1.0 72 Q9Y619,P16435,P07237,P16278,P15586,Q15392,Q00577,Q14739,P48651,Q99519,Q9Y2U8,P63241,Q13363,P20674,Q15067,Q96J02,Q15233,O75431,P13073,Q9UQR1,O96028,Q14738,Q06787,Q9Y487 24 |
| Cerebral calcification 0.2983976620503309 0.2045462813194233 0.8379266291491225 1.0 1.0 28 P18074,O00584,P23786,P05067 4 |
| Adrenal hypoplasia 0.3716279370395298 0.204464934582367 0.8379901912947219 1.0 1.0 7 Q15738,O75844 2 |
| Cerebral hypoplasia 0.3226440416775517 0.203193776015029 0.838983577385686 1.0 1.0 13 Q9UBM7 1 |
| Abnormality of the shoulder girdle musculature 0.3010675305174825 0.2004776299875993 0.8411070515430248 1.0 1.0 24 O75340,Q9Y5S9,O14979,Q9Y487,Q13501 5 |
| Abnormal tracheal morphology 0.296434077336337 0.2001431510275758 0.8413686263978901 1.0 1.0 30 Q9UBM7,Q14739,Q15056,P35250 4 |
| Oral pharyngeal dysphagia 0.3440759638283202 0.199784833805564 0.8416488630779777 1.0 1.0 9 Q13510 1 |
| Cranial hyperostosis 0.33990735064777 0.1994337176314193 0.8419234873445693 1.0 1.0 10 P18074,P09651,P22626,P10644 4 |
| Abnormality of lower limb joint 0.2759271210793415 0.1991418927031596 0.8421517518095802 1.0 1.0 129 Q9Y619,Q9UHX1,Q86XL3,P35250,Q9NR77,P16278,Q6ZXV5,P23786,Q13510,Q8N0X7,Q15738,O75340,O75718,O75844,Q15041,Q9Y5S9,O95831,Q9UBM7,O75431,Q15056,O95140,O96028,Q14738,Q9Y4P3,Q9Y487,Q13642 26 |
| Abnormality of the optic nerve 0.3051447143443311 0.1968666892010599 0.8439318616853848 1.0 1.0 195 Q8N183,Q9UHX1,P21964,O95721,P06280,P50897,Q9H061,P16278,P10644,P57081,P37198,Q9Y375,O75306,Q6ZXV5,Q8WWV3,Q9BZH6,Q969G3,Q99519,P41440,Q8IUX1,Q8NC96,Q13363,O96019,P18074,Q9HC21,P00403,P16219,O95831,O43676,Q15067,P55011,Q9UBM7,Q9NZ08,O43505,O15460,O95140,Q9UG56,Q96GM8,P61978,P04062,O96028,Q9Y263,Q15555,Q5XKP0,O75648,Q9P032,O43681 47 |
| Short chin 0.3432578388199313 0.1967973626018702 0.8439861150973167 1.0 1.0 9 O75844,Q96J02,Q03001 3 |
| Type 1 muscle fiber atrophy 0.3691871577688619 0.1967385315376862 0.8440321555240504 1.0 1.0 7 P61978 1 |
| Increased circulating lactate dehydrogenase concentration 0.3279296923983459 0.1966195840232354 0.8441252439317184 1.0 1.0 12 P41440,P10253,P23786 3 |
| Abnormal anterior eye segment morphology 0.3164130580032429 0.1962085033065841 0.8444469727425816 1.0 1.0 238 Q9UHX1,Q06136,P06280,P35250,Q9NR77,P16278,Q14739,Q16134,P07437,Q8WWV3,P23786,Q9NWM8,Q13510,Q8WYQ5,Q99519,P48449,P13804,Q9BVA1,Q13126,O75844,P18074,P10619,P00403,Q9UBM7,Q96EK5,Q9NZ08,Q15056,P04062,O96028,P22626,Q14738,Q15555,Q9Y4P3,O14979,O75648,Q99797 36 |
| Disproportionate tall stature 0.3003281962037469 0.1957708869033996 0.8447894979982697 1.0 1.0 24 P55011,Q8NCH0,P16435,O96028,Q13363,O96019,Q9NWM8,O75648,Q15031 9 |
| Abnormality of the female genitalia 0.2626883794346648 0.1957269885618812 0.8448238591413633 1.0 1.0 107 Q9Y619,Q15056,Q96GM8,Q16740,O75874,O75844,Q15392,P35250,Q01844,O96028,P51809,Q9Y4P3,Q6NUK1,P48735,Q9BW83,Q9UBM7 16 |
| Tetraplegia tetraparesis 0.2894154318981231 0.1946805446134712 0.845643043636827 1.0 1.0 38 P17900,P35637,O95831,Q9UBX3,O43681,Q13501 6 |
| Memory impairment 0.2946919578668142 0.1938659688594408 0.8462808310388332 1.0 1.0 31 Q9NZ08,P05067,P00403,P31483,O43681,Q13501 6 |
| Abnormality of the achilles tendon 0.327190827190835 0.1934380447526673 0.8466159226462362 1.0 1.0 12 O60313,Q15041,P50402,Q92734,Q08J23,P02545,Q15149,Q13642,Q9Y3E5,Q9BTV4,Q8WXH0 11 |
| Abnormality of urine calcium concentration 0.3420392044085808 0.1923700180640157 0.8474523758931185 1.0 1.0 9 Q15056,P35250 2 |
| Bilateral external ear deformity 0.4973480212158381 0.1916851007337908 0.8479888774596207 1.0 1.0 3 P15924,P14923 2 |
| Abnormal circulating follicle stimulating hormone concentration 0.3894636602190169 0.1912659080004466 0.8483172694554983 1.0 1.0 6 Q969G3,P51809 2 |
| Displacement of the urethral meatus 0.2649933396350714 0.1901817826258596 0.849166685954595 1.0 1.0 94 Q9Y619,P48449,Q9UHX1,O75844,O96028,P07437,P51809,Q15555,Q9UBM7,Q96EK5 10 |
| Periorbital edema 0.2989709814538146 0.1871656279824004 0.8515307734760018 1.0 1.0 24 P28070,Q15056,Q9Y4P3,P35250 4 |
| Distal upper limb muscle weakness 0.3996552375491388 0.1867598457519929 0.8518489313585711 1.0 1.0 5 Q13501 1 |
| Patellar dislocation 0.3123158042487267 0.1853539954720508 0.8529513894112875 1.0 1.0 16 Q6ZXV5,Q15056,P35250,Q9Y5S9,Q9Y4P3 5 |
| Abnormal circulating nitrogen compound concentration 0.2866886288224725 0.1852810884444696 0.8530085704519288 1.0 1.0 41 Q9Y619,O43772,P23786,Q16836,P40939 5 |
| Neoplasm by histology 0.2691086219518079 0.1802295070687871 0.8569723944212146 1.0 1.0 80 Q13126,O75874,Q92804,P07437,P51809,Q01844,P18074,Q15555,Q02978,P48735,Q15392,Q13501 12 |
| Abnormal cell morphology 0.4916360669114665 0.1801325606296228 0.857048500998979 1.0 1.0 3 O95453,P15924 2 |
| Onion bulb formation 0.3846871762780536 0.1780081538412667 0.8587165721740011 1.0 1.0 6 Q9NR77 1 |
| Pace of progression 0.2770737495512242 0.1774701163388769 0.8591391363370113 1.0 1.0 134 Q14108,P41440,Q9BUF5,Q9NR28,P04792,Q13126,Q8IV08,P04062,Q9NR77,O95831,Q5XKP0,O14979,Q15120,Q13510,Q99720,Q13501 16 |
| Abnormality of acid base homeostasis 0.2812527221753143 0.1771354058975376 0.8594020317574365 1.0 1.0 142 Q9Y619,P40939,P48735,O14949,Q9Y375,O75306,Q16134,P23786,P13804,P00403,Q16836,P16219,O95831,O43676,P20674,Q70HW3,P22695,Q5XKP0,O75648,Q9H0R6,Q99797 21 |
| Abnormal facial expression 0.2991383711077631 0.1754533329891659 0.8607234367880363 1.0 1.0 23 P04062,P35270 2 |
| Supernumerary nipple 0.3404974840457327 0.174531128790708 0.861448068936733 1.0 1.0 8 Q9UM00,Q14738 2 |
| Neurogenic bladder 0.4887800897592845 0.1745087047387835 0.8614656903385582 1.0 1.0 3 O76024,P83436 2 |
| Insomnia 0.3146275649214385 0.1739770480298847 0.8618835001544078 1.0 1.0 14 Q15056,Q9Y4P3,P35250 3 |
| Inappropriate behavior 0.3158240756889557 0.1721839362841635 0.8632929262611237 1.0 1.0 13 P17900 1 |
| Abnormal basal ganglia mri signal intensity 0.3004308148949475 0.1721631906686797 0.8633092353361298 1.0 1.0 22 O75306,O75340,P16278,Q8N183 4 |
| Limb girdle muscle weakness 0.3065939716814256 0.1709405131208615 0.8642705406012574 1.0 1.0 17 Q13126 1 |
| Tremor 0.2754765902072753 0.1704643892332711 0.8646449377253438 1.0 1.0 132 P35250,Q9NR77,Q15120,Q5JRX3,Q13501,O75306,P31930,O43464,O75503,Q13510,Q99720,Q99519,Q14108,P41440,P18074,O95831,Q6DKK2,Q15056,P04062,P35270,P35637,Q9Y4P3,O43681 23 |
| Excessive daytime somnolence 0.3356256871736216 0.1695249774253852 0.865383727537554 1.0 1.0 9 Q9UBM7 1 |
| Abnormality of the cervical spine 0.2684585889958297 0.1683300829325258 0.8663236087563624 1.0 1.0 78 Q9UHX1,P07437,P18074,O95831,P16278,Q9BW83,Q9UBM7,Q96EK5 8 |
| Abnormal saccadic eye movements 0.3060256145477223 0.1679330276658655 0.8666359667709971 1.0 1.0 17 O75306,O95140,Q8IV08,P04062,Q10713,O14773 6 |
| Abnormal cardiac ventricle morphology 0.2825685852474698 0.1674274695219118 0.8670337126707754 1.0 1.0 146 Q9UHX1,P06280,P35250,Q6NUK1,P40939,P42892,Q14739,O75306,O43772,P23786,Q969G3,Q8WYQ5,Q15738,O75844,P18074,P00403,Q9Y5S9,Q9UBM7,O75431,Q15056,P61978,O96028,Q14738,Q9Y4P3,Q13642,P10253,Q8N183 27 |
| Ambiguous genitalia 0.308643744387698 0.1666280555806681 0.8676627171453704 1.0 1.0 16 Q9UBM7,Q15392,Q96GM8 3 |
| Abnormal dermoepidermal junction morphology 0.4834761321909493 0.1643356270851375 0.8694669365736267 1.0 1.0 3 P15924,P14923 2 |
| Abnormal sclera morphology 0.2988427380176433 0.162723300092019 0.8707363006807787 1.0 1.0 22 O75718,Q96AY3,P07237,Q96EK5,P40939,P10644,Q9Y3B2 7 |
| Typical absence seizure 0.3299790675147759 0.1623870901139791 0.8710010365069663 1.0 1.0 10 Q01105,Q13510 2 |
| Recurrent respiratory infections 0.261746369922374 0.1615545962356094 0.8716566144554869 1.0 1.0 96 O15460,Q15056,P04062,O96028,P35250,P18074,Q9Y4P3,P16278,P09601,Q9Y487,Q13510,P10253 12 |
| Pancreatitis 0.3119476796668462 0.1615257763192184 0.8716793113411796 1.0 1.0 14 Q9NZ08,P00403,Q4G0N4 3 |
| Eeg with abnormally slow frequencies 0.3119423115131256 0.1615009999194661 0.8716988238734029 1.0 1.0 14 O75503 1 |
| Profound hearing impairment 0.3890828389288177 0.1601978970869841 0.8727251858833334 1.0 1.0 5 Q9NR77 1 |
| Abnormal circulating igg level 0.3186335030711517 0.1574175526871838 0.8749157808725221 1.0 1.0 12 P18074,Q15904 2 |
| Glomerular sclerosis 0.2912502519086674 0.1562371256869918 0.875846113978175 1.0 1.0 28 Q02978,P00403,Q14108,Q8NFH4 4 |
| Abnormal lymphocyte morphology 0.2918119962978643 0.1562017349403283 0.8758740092382438 1.0 1.0 26 P28070,P16278 2 |
| Hyperpigmentation of the skin 0.2679872125781789 0.1559744283632193 0.8760531777137059 1.0 1.0 72 Q06136,O75844,P04062,P07437,P18074,Q15555,Q14739 7 |
| Neoplasm of fatty tissue 0.3858717844017993 0.15247054275059 0.8788158222552054 1.0 1.0 5 Q6P1J9,Q9Y2U8,O95140,P27635 4 |
| Fibrous tissue neoplasm 0.3080074609093811 0.1519036829474573 0.8792629034348121 1.0 1.0 15 Q13126,Q15392,Q969G3 3 |
| Achilles tendon contracture 0.3269230769230815 0.1513737537841983 0.879680892314626 1.0 1.0 10 O60313,P50402,Q08J23,P02545,Q15149,Q13642,Q9Y3E5,Q9BTV4,Q8WXH0 9 |
| Hepatic encephalopathy 0.4757567265622483 0.1501629957010634 0.8806360199619341 1.0 1.0 3 Q9UJS0 1 |
| Abnormality of skeletal maturation 0.2672748883445921 0.1493862711316002 0.8812488442244026 1.0 1.0 74 Q9Y619,P35250,Q6NUK1,P10644,P57081,P48651,Q9BZH6,Q969G3,Q99519,Q14108,P48449,Q13363,P18074,O95831,Q96J02,Q15056,O96028,P51809,P04062,Q03164,Q9Y4P3 21 |
| Abnormal drinking behavior 0.4749082007344022 0.1486510760296331 0.8818289678634754 1.0 1.0 3 O76024,Q8N5K1 2 |
| Hepatic fibrosis 0.2905269817370312 0.1475594419300104 0.8826904652664915 1.0 1.0 25 Q13510,P04062,Q15904 3 |
| Congenital malformation of the left heart 0.4740922072623489 0.1472057212221676 0.8829696449134237 1.0 1.0 3 Q9UQR1,O14802 2 |
| Specific learning disability 0.2720175770392617 0.146956710124072 0.8831661895706961 1.0 1.0 50 Q9Y619,O43505,P21964,Q9BVA1,P22626,P35637,P09651,P00403,P10644,Q96EK5,Q8WYQ5,Q8N0X7,Q13501 13 |
| Abnormality of the abdominal organs 0.3178499275377072 0.146845887933161 0.8832536639274085 1.0 1.0 273 Q9Y619,P28070,Q9UHX1,Q8N183,P21964,P35250,Q01844,P31751,P09651,P16278,P09601,P40939,O75880,P10644,Q15392,Q15904,Q9Y375,Q14739,O75306,O43772,Q16134,Q8NFH4,P23786,Q969G3,Q13510,Q99519,Q14108,P61916,P13804,O75340,P00374,P10619,Q16836,P00403,P16219,O43676,P20674,Q15067,Q9Y5S9,Q9BW83,Q9UBM7,Q96J02,Q00059,O75431,Q9NZ08,O15118,Q15056,O95140,P04062,O96028,P22626,P54802,Q9Y4P3,Q9P032,Q5XKP0,O75648,P10253,O43681 58 |
| Arthrogryposis multiplex congenita 0.2899247753665275 0.1452810571719316 0.8844889702290486 1.0 1.0 27 P04062,Q15392,O75844 3 |
| Carious teeth 0.2827731221526162 0.1424349170643473 0.886736483708094 1.0 1.0 38 Q15056,P35250,P18074,Q15555,P16278,Q9Y487 6 |
| Hyposmia 0.3147946466960073 0.1417731553876417 0.8872591887528765 1.0 1.0 12 Q9BW83,P04062,O43464 3 |
| Kinetic tremor 0.2893759083441068 0.1417131094283211 0.8873066196259383 1.0 1.0 27 Q14108,P41440,O43681 3 |
| Spastic paraplegia 0.2818704619248707 0.1413816846096296 0.8875684224924598 1.0 1.0 40 Q9Y619,O75306,Q96GM8,Q15041,P04062,O95831,Q8N0X7 7 |
| Blue sclerae 0.3006262967651292 0.1397582558551667 0.8888509965090372 1.0 1.0 17 O75718,Q96AY3,P07237,Q9Y3B2,Q96EK5 5 |
| Abnormality of globe size 0.2807076601978973 0.136410973389968 0.8914963992565983 1.0 1.0 41 O43505,Q9UHX1,P07437,Q6NUK1,P18074,Q15555,O75431 7 |
| Connective tissue nevi 0.4676480534829678 0.1360876570472998 0.8917519849985105 1.0 1.0 3 Q6NUK1 1 |
| Conjugated hyperbilirubinemia 0.4323001631321383 0.13561143249328 0.892128467128952 1.0 1.0 2 Q9H267 1 |
| Angular cheilitis 0.4298531810766887 0.131624840952878 0.8952810362330834 1.0 1.0 2 P20810 1 |
| Abnormality of the nasal skeleton 0.3903560596554777 0.1309170977635441 0.8958408890342453 1.0 1.0 4 Q6NUK1 1 |
| Abnormal pulmonary valve morphology 0.3662526662270537 0.130175398277086 0.8964276582711679 1.0 1.0 6 P21964 1 |
| Alopecia universalis 0.4282218597063644 0.1290168711505104 0.8973442991525169 1.0 1.0 2 P15924 1 |
| Axial muscle weakness 0.4282218597063635 0.1290168711505093 0.8973442991525178 1.0 1.0 2 Q9Y281 1 |
| Dysmenorrhea 0.4282218597063609 0.1290168711505048 0.8973442991525213 1.0 1.0 2 O00170 1 |
| Deformed sella turcica 0.3890181203495533 0.1282559263329386 0.8979464426617163 1.0 1.0 4 P08236,O75431 2 |
| J shaped sella turcica 0.3890181203495533 0.1282559263329386 0.8979464426617163 1.0 1.0 4 P08236,O75431 2 |
| Facial hypotonia 0.3227133955853745 0.125963813400633 0.8997605690852439 1.0 1.0 9 P10253 1 |
| Protruding tongue 0.3226744688151234 0.1258376055118398 0.8998604734734605 1.0 1.0 9 Q99519 1 |
| Aplasia hypoplasia of the gallbladder 0.425774877650898 0.1251792938652224 0.9003816093933259 1.0 1.0 2 A5YKK6 1 |
| Abnormal blood inorganic cation concentration 0.2863940288833615 0.1242246165161039 0.9011374320369114 1.0 1.0 28 P21964,Q15056,P35250,Q02978,Q9Y4P3,P40939,Q8WYQ5 7 |
| Dilated fourth ventricle 0.2847341797371585 0.1240588794270101 0.9012686560375678 1.0 1.0 31 Q9Y487,Q9UBM7,P07437 3 |
| Meningioma 0.3857142857142812 0.1218014722290854 0.9030562479633876 1.0 1.0 4 P02545,Q969G3,Q12824 3 |
| Neurofibromas 0.3857142857142808 0.1218014722290846 0.9030562479633883 1.0 1.0 4 Q969G3,Q12824,Q01082 3 |
| Primitive neuroectodermal tumor 0.3182863753131245 0.1212916532531759 0.903460030947962 1.0 1.0 10 P07437 1 |
| Thick eyebrow 0.2796197388897021 0.1203418797170046 0.904212329937939 1.0 1.0 39 Q9UHX1,Q6NUK1,Q03164,O95831,Q969G3,Q96EK5 6 |
| Pituitary growth hormone cell adenoma 0.4577082011263217 0.119969623005633 0.9045072114554122 1.0 1.0 3 P10644 1 |
| Poikiloderma 0.3714673889876822 0.119807771288792 0.904635425691513 1.0 1.0 5 P18074 1 |
| Glucose intolerance 0.2605769004823554 0.1180839652318179 0.906001128447174 1.0 1.0 91 Q06136,P35250,P31751,P10644,Q9Y375,O75306,Q9Y3E5,Q8IUX1,O75844,P00403,O43676,Q96J02,P12235,O75431,Q15056,P17096,Q9NPL8,Q15555,Q9Y4P3,Q9P032,Q8N183 21 |
| Juvenile onset 0.2792357651476961 0.117357281506004 0.906576934503255 1.0 1.0 39 P06280,Q13510,P16278,Q9NR77 4 |
| Ovarian cyst 0.3021281545504448 0.1173549580771917 0.9065787756092014 1.0 1.0 14 P31751,Q15056,Q9Y4P3,P35250 4 |
| Abnormality of skin adnexa physiology 0.2829100722762772 0.1170553634835786 0.9068161812695412 1.0 1.0 32 O15460,P61978,P06280,P35270,Q02978 5 |
| Abnormal csf metabolite level 0.2740212474382921 0.1161384014966998 0.9075428547282413 1.0 1.0 46 Q8IUX1,O75306,Q8N183,Q9HC21,O43464,P00403,O95831,O43676,Q9P032,Q9Y375 10 |
| Hoarse voice 0.2874287734010077 0.1159534257405454 0.9076894535991528 1.0 1.0 24 Q15056,P35250,Q9Y4P3,Q13510,Q8N0X7 5 |
| Athetosis 0.3127896572146031 0.1155117340794148 0.90803952028373 1.0 1.0 11 O14949 1 |
| Recurrent bronchopulmonary infections 0.3693217314758645 0.1152265042592903 0.9082655912293984 1.0 1.0 5 P18074 1 |
| Localized skin lesion 0.2910212570111825 0.114114820445433 0.9091467739541093 1.0 1.0 173 Q9Y619,Q9UHX1,Q06136,P06280,P35250,P48735,Q15392,Q14739,O75874,Q9NWM8,Q13510,Q13126,O75844,P18074,Q9NZ08,O15460,Q15056,P04062,O96028,P35637,Q03164,Q15555,Q9Y4P3 23 |
| Protruding ear 0.2792558582586604 0.1140309940318626 0.9092132240008493 1.0 1.0 37 O43505,Q15056,Q06136,P35250,P18074,Q9Y4P3 6 |
| Functional abnormality of male internal genitalia 0.2851152715349485 0.1138083075872639 0.909389752883818 1.0 1.0 25 Q15056,P16435,P04062,P51809,P35250,Q9BZH6,Q13423,Q9Y4P3 8 |
| Abnormality of female external genitalia 0.2849645703296717 0.1133600828804497 0.9097450849104892 1.0 1.0 27 Q9Y619,Q96GM8,Q15392,P51809,Q9UBM7 5 |
| Leukonychia 0.367088607594937 0.1105375815292525 0.9119830467192034 1.0 1.0 5 P20810,P52732,P15924,O15446 4 |
| Abnormality of nail color 0.367088607594937 0.1105375815292525 0.9119830467192034 1.0 1.0 5 P20810,P52732,P15924,O15446 4 |
| Reduced tendon reflexes 0.2682658483116222 0.1103061485877617 0.912166581155382 1.0 1.0 127 P04792,O95721,Q03001,Q9NR77,P40939,Q15120,Q9Y3B2,Q13501,O60701,Q96BR5,Q13510,Q99720,Q9Y3E5,P41440,O75340,Q8NC96,Q15041,Q9HC21,P18074,O95831,Q15067,P12235,O43505,O95140,P61978,P04062,Q14738,P35637,P54802,Q06787,O14979,P61981,O75648,Q13642,P10253,Q96AY3,O43681 37 |
| Abnormal blood phosphate concentration 0.3666802776643573 0.1096889486161882 0.9126560652536392 1.0 1.0 5 Q6P1J9,O14745,Q15813,P10644 4 |
| Thickened nuchal skin fold 0.3570636043984205 0.1083887770164202 0.9136873033302576 1.0 1.0 6 Q13501 1 |
| Impaired pain sensation 0.2943154432038851 0.1077803071308724 0.9141699645115776 1.0 1.0 17 O95140,Q9NR77,P04792,O95831 4 |
| Arnold chiari malformation 0.2998350360150526 0.1073844841760556 0.9144839631602985 1.0 1.0 14 Q15056,P35250 2 |
| Abnormal internal genitalia 0.2547111398546849 0.1060015701327581 0.9155811064210256 1.0 1.0 101 Q15056,Q96GM8,Q16740,O75874,O75844,O96028,P35250,Q01844,P18074,P51809,P48735,Q9BW83,Q9UBM7 13 |
| Hypoplastic toenails 0.2885426390172098 0.1031494388327109 0.9178443677374236 1.0 1.0 22 Q15056,P23786,Q14738,P35250,Q9Y4P3 5 |
| Chorioretinal coloboma 0.4102773246329582 0.1029194128511638 0.9180269302893376 1.0 1.0 2 Q10713 1 |
| Tapered distal phalanges of finger 0.4102773246329545 0.1029194128511591 0.9180269302893412 1.0 1.0 2 P15924 1 |
| Diarrhea 0.2601980334442937 0.1023365424723361 0.918489550856764 1.0 1.0 54 P06280,O43464,P18074,Q14738,Q13423,P00403,Q16836,P40939,P54802,Q96J02,Q13510,Q15904,P42892 13 |
| Abnormality of dental morphology 0.2601591625545747 0.1019536483474483 0.918793466552319 1.0 1.0 54 Q9Y619,Q9Y487,Q15056,O96019,Q6NUK1,P35250,P07237,Q15555,Q9Y4P3,O75648,Q9UBM7 11 |
| Abnormal scapula morphology 0.2756149150283711 0.1003338406678062 0.9200792920677614 1.0 1.0 42 Q9Y619,Q15738,O75340,Q9UM00,Q9Y487,Q14739,Q13501 7 |
| Abnormal eyelash morphology 0.2628999428352225 0.1002905789866054 0.9201136366629176 1.0 1.0 70 P48449,Q9UHX1,O75844,Q03164,Q9UBM7 5 |
| High forehead 0.2626605621430109 0.0975248307796622 0.9223096161055662 1.0 1.0 71 P35250,P57081,Q9Y3B2,Q15904,Q14739,Q16134,P23786,Q99519,Q8NC96,P13804,Q13363,O96019,Q9Y5S9,O75431,Q15056,O96028,Q03164,Q9Y4P3,O75648 19 |
| Joint contractures involving the joints of the feet 0.313546495351198 0.0971274833461945 0.9226251554867386 1.0 1.0 9 Q13642,P63241,Q14738 3 |
| Dilation of lateral ventricles 0.2908538702932987 0.0971062408740839 0.9226420247864342 1.0 1.0 19 Q01105,Q9BVA1,Q14738 3 |
| Abnormal adipose tissue morphology 0.2728173519971116 0.0970589884526103 0.922679549510756 1.0 1.0 45 P28070,O95140,O75844,Q6NUK1,P31751,P18074,Q9Y487,O75431 8 |
| Woolly hair 0.3602253548971467 0.0966340028403505 0.9230170524883876 1.0 1.0 5 Q6PGP7,Q96A33,P14923 3 |
| Aortic aneurysm 0.2725632205040165 0.0949229283820603 0.9243760445320794 1.0 1.0 45 Q6ZXV5,O15460,Q15056,O75844,O96019,Q6NUK1,P35250,Q9Y4P3,O75648 9 |
| Dysarthria 0.2671130855240074 0.0948081299487072 0.9244672291983131 1.0 1.0 127 Q13409,P35250,Q13501,O75306,P07737,Q8IV08,O75503,Q14108,P41440,P61916,P18074,Q6DKK2,Q15056,P04062,P35270,P35637,Q9Y4P3,Q5XKP0,O43681 19 |
| Cranial nerve compression 0.3127372678237299 0.0946686445899639 0.9245780240829876 1.0 1.0 9 Q02978,P22626 2 |
| Abnormal fundus autofluorescence imaging 0.4033442088091362 0.0940794730011228 0.9250460262213558 1.0 1.0 2 Q8WWY3 1 |
| Abnormality of the musculature of the thigh 0.3137290607704127 0.0915543207226292 0.9270521457333144 1.0 1.0 8 O14979 1 |
| Tritanomaly 0.436964504283965 0.0903266293303488 0.9280276594956848 1.0 1.0 3 O00429,O60313 2 |
| Anomalous trichromacy 0.436964504283965 0.0903266293303488 0.9280276594956848 1.0 1.0 3 O00429,O60313 2 |
| Acantholysis 0.3669387755101999 0.0882906530247447 0.9296456677500736 1.0 1.0 4 P01889,P15924,P14923 3 |
| Gonadal dysgenesis 0.3081715091893842 0.0881106827988268 0.9297887057591596 1.0 1.0 10 P18074,Q96GM8 2 |
| Abnormal conus terminalis morphology 0.3466183014129047 0.0853438689535054 0.9319880163477215 1.0 1.0 6 O96028 1 |
| Anteriorly placed anus 0.3071457186496257 0.0848737576134041 0.9323617548808518 1.0 1.0 10 P48651,Q6NUK1,P16435 3 |
| Ectopic anus 0.3071457186496257 0.0848737576134041 0.9323617548808518 1.0 1.0 10 P48651,Q6NUK1,P16435 3 |
| Cheilitis 0.430028559771525 0.0815971655145909 0.934967055371609 1.0 1.0 3 P20810,P54132 2 |
| Sagittal craniosynostosis 0.3619377728173568 0.0802721398313354 0.9360208158861733 1.0 1.0 4 P61978 1 |
| Dilatation of the cerebral artery 0.3095970971240964 0.0800603960944623 0.9361892209354864 1.0 1.0 8 P10253 1 |
| Acute pancreatitis 0.4283965728274197 0.0796273941586581 0.9365336070020044 1.0 1.0 3 P35914,Q96MF7 2 |
| Progressive pes cavus 0.4275428973776419 0.0786096948234502 0.9373430760507804 1.0 1.0 3 Q13642 1 |
| Prominent forehead 0.2591636252253372 0.0774629658821074 0.9382552516622792 1.0 1.0 59 Q9UHX1,P23786,Q14738,P11233,Q15392,Q14739 6 |
| Aplasia hypoplasia involving bones of the feet 0.2628792410268007 0.0769715648762797 0.938646165781242 1.0 1.0 51 Q9UBM7,Q13510,Q9UHX1 3 |
| Hypoplastic fifth toenail 0.3084562238715386 0.0769514969076732 0.938662130353782 1.0 1.0 8 Q969G3,Q14738 2 |
| Submucous cleft soft palate 0.4259485924112559 0.0767322653938112 0.9388365361280696 1.0 1.0 3 Q15233,O14802 2 |
| Right bundle branch block 0.342318738984158 0.0763975708967318 0.9391028021033028 1.0 1.0 6 P04899,P14923 2 |
| Abnormal endocrine physiology 0.3585194367411741 0.0750091159427011 0.9402074588546456 1.0 1.0 4 Q13423 1 |
| Abnormality of hand joint mobility 0.4241339662026305 0.0746320003340059 0.9405075125305418 1.0 1.0 3 Q9Y263 1 |
| Hyperextensibility of the finger joints 0.4241339662026305 0.0746320003340059 0.9405075125305418 1.0 1.0 3 Q9Y263 1 |
| Down sloping shoulders 0.2855504274485856 0.0741760639757005 0.9408702915522944 1.0 1.0 20 O75648,Q15056,Q9Y4P3,P35250 4 |
| Thoracic aortic aneurysm 0.2780449488325178 0.070897132486229 0.9434796255790544 1.0 1.0 28 Q15056,O75844,P35250,Q9Y4P3,O75648 5 |
| Abnormal fingernail morphology 0.2731591127542507 0.070821279013729 0.9435399961421088 1.0 1.0 39 Q15056,O75844,P35250,P18074,Q9Y4P3,Q969G3,Q14739 7 |
| Abnormal nasal mucosa morphology 0.4207046619870246 0.0707685227974774 0.9435819841603365 1.0 1.0 3 Q03519 1 |
| Abnormal response to endocrine stimulation test 0.4195397591859749 0.0694873384771455 0.9446017107238608 1.0 1.0 3 Q13423 1 |
| Absent septum pellucidum 0.2775103836748425 0.06756165753233 0.9461345784822894 1.0 1.0 28 O43505,P48651,Q13409,Q96C86,Q13363,O96028,Q9BZH6,Q15392 8 |
| Papilledema 0.2859541333023108 0.0671174503027225 0.9464882018869792 1.0 1.0 17 O75648,P04062,Q969G3 3 |
| Phocomelia 0.4164976783684763 0.0662155175355979 0.947206242680771 1.0 1.0 3 Q9Y5S9 1 |
| Anal stenosis 0.3764274061990204 0.0659092486160744 0.9474500772650774 1.0 1.0 2 Q12948 1 |
| Abnormality of primary teeth 0.2983290953276526 0.0657702404413218 0.94756074960609 1.0 1.0 11 O75844,Q9UM00 2 |
| Abnormal sperm motility 0.3760195758564403 0.0655533778333817 0.9477334083242488 1.0 1.0 2 Q86Y56 1 |
| Distal lower limb muscle weakness 0.2942654398263981 0.0640188700585084 0.948955201493516 1.0 1.0 12 P04792 1 |
| Nephrolithiasis 0.2849322215687342 0.062288320166312 0.9503332295732464 1.0 1.0 17 Q15056,P35250 2 |
| Concave nasal ridge 0.367047308319738 0.0582209088756739 0.953572666095552 1.0 1.0 2 Q12948 1 |
| Hemiplegia hemiparesis 0.2759856811873544 0.0575561271803754 0.9541021971424852 1.0 1.0 27 Q9NZ08,P00403,Q9BVA1 3 |
| Female infertility 0.3633768352365379 0.0554865872644189 0.9557508153009406 1.0 1.0 2 Q86Y56 1 |
| Short nose 0.25850600255183 0.053879476429378 0.9570311883468758 1.0 1.0 76 Q9UHX1,Q15056,O75844,P04062,P35250,Q6NUK1,Q14738,Q03164,Q9Y4P3,Q969G3,Q9UM00,Q9Y487,Q15392,P42892 14 |
| Limb girdle muscle atrophy 0.2911069901967794 0.0529976959900836 0.9577337434689948 1.0 1.0 12 Q13642,O14979 2 |
| Profound global developmental delay 0.2981573517042979 0.0528651394799929 0.9578393602030224 1.0 1.0 9 P55011,P57081 2 |
| Muscular ventricular septal defect 0.3998368013055873 0.0501385058793464 0.9600120150564082 1.0 1.0 3 Q9Y2W2,Q5SRE5 2 |
| Inverted nipples 0.3333825972810761 0.0496400677108197 0.960409216558243 1.0 1.0 5 Q15067 1 |
| Chordee 0.3282872379705425 0.0494115598358288 0.9605913159990024 1.0 1.0 6 P48651,P16435 2 |
| Freckling 0.3330165497424974 0.0490800760462257 0.960855481281096 1.0 1.0 5 P18074 1 |
| Abnormality of the supraorbital ridges 0.2813440868488584 0.0468550558907369 0.9626287489267618 1.0 1.0 18 P38159,P16435,Q6NUK1,Q13642,Q99519 5 |
| Accelerated skeletal maturation 0.2968090779652241 0.0468411681194948 0.9626398176118788 1.0 1.0 8 Q03164 1 |
| Genetic anticipation 0.3491027732463253 0.0462158204305314 0.9631382330678177 1.0 1.0 2 Q9UBB4 1 |
| Sparse scalp hair 0.27365932450171 0.0435471856341666 0.965265351480711 1.0 1.0 27 Q6NUK1,P48449,Q96EK5,P18074 4 |
| Fetal ultrasound soft marker 0.2947873793151365 0.0419203858779765 0.96656216510082 1.0 1.0 8 Q13501,P61978 2 |
| Difficulty climbing stairs 0.2900346291077861 0.0395452398087463 0.9684556855540228 1.0 1.0 11 O75340,O95140,P40939 3 |
| Hypersomnia 0.3344208809135371 0.0387269449184692 0.9691080905808408 1.0 1.0 2 O00170 1 |
| Emg abnormality 0.2542945064403077 0.0382054432030399 0.9695238810177268 1.0 1.0 56 O75340,P04792,O95140,P22626,Q13642,Q9NR77,Q15120,Q13510,P31483,O43681,Q13501 11 |
| Abnormality of metacarpophalangeal joint 0.3301726382894856 0.0380044364963894 0.9696841447726668 1.0 1.0 4 P16435,Q15233 2 |
| Intrauterine growth retardation 0.2764442252245682 0.0374462604360662 0.9701291880217262 1.0 1.0 153 Q9Y619,Q9UHX1,P21964,P07237,Q6NUK1,P16278,P40939,O75880,P10644,P57081,Q15392,Q9Y375,O75306,P48651,Q969G3,Q15738,Q8IUX1,O75844,Q13363,P18074,Q92785,Q16836,P16219,O43676,P37268,Q9UBM7,Q00059,P04062,O96028,Q03164,Q9Y487,Q9H0R6,Q9P032,Q8N183 34 |
| Hiatus hernia 0.3077237433592167 0.0370981130299676 0.9704067765783352 1.0 1.0 7 Q8NBU5,Q8NCH0,Q8WUM0,P57740,P57081,P54886 6 |
| Aplasia hypoplasia of the scapulae 0.382734135103091 0.0366843387337051 0.9707366961181568 1.0 1.0 3 Q15738 1 |
| Abnormal emotion affect behavior 0.289789965434592 0.0366349336996093 0.9707760891524688 1.0 1.0 184 Q01105,Q9UHX1,Q13409,Q92804,P50897,Q13501,O75306,O43772,P07737,Q8NFH4,O43464,Q15165,Q969G3,O75503,Q13510,Q8WYQ5,Q8N0X7,O95831,Q15067,Q9UBM7,Q6DKK2,Q9NZ08,P17900,P04062,P35270,Q14738,P35637,Q03164,O43681 29 |
| Increased blood pressure 0.254691794548508 0.0359601506208184 0.9713141335860732 1.0 1.0 58 P21964,Q15056,P06280,O75844,P04062,P35250,Q02978,P00403,Q9Y4P3,Q96J02,Q9BW83,P42892 12 |
| Abnormal nervous system electrophysiology 0.2697301002258837 0.0351954152269586 0.9719239180868366 1.0 1.0 140 Q9Y619,P04792,O95721,P50897,Q9NR77,Q9BQE5,Q15120,Q13501,P31930,O75503,Q99720,Q99519,Q14108,P48449,P18074,P00403,O95831,Q15067,O96028,O43681 20 |
| Hyperostosis 0.2857155050036803 0.0347985078348055 0.9722404104877302 1.0 1.0 12 P18074,P09651,P22626,P10644 4 |
| Neoplasm of the tongue 0.3259962297363611 0.033516787210274 0.9732624790947764 1.0 1.0 4 Q969G3 1 |
| Inflammatory abnormality of the eye 0.2689009634241246 0.0331249185385606 0.973574971530708 1.0 1.0 34 Q9NZ08,P28070,Q14739 3 |
| Recurrent acute respiratory tract infection 0.3769889840881241 0.0328055371498733 0.9738296625838848 1.0 1.0 3 Q15149,Q03519 2 |
| Adrenal overactivity 0.3767657846148047 0.0326610104283932 0.973944916461559 1.0 1.0 3 P10644 1 |
| Increased circulating cortisol level 0.3767657846148047 0.0326610104283932 0.973944916461559 1.0 1.0 3 P10644 1 |
| Abnormal dentin morphology 0.3240816326530565 0.031538434739621 0.9748401408900228 1.0 1.0 4 P50454,Q96AY3,P23284 3 |
| Pneumothorax 0.3174288184735674 0.0308511558579635 0.9753882433395652 1.0 1.0 6 Q8NCH0,Q6NUK1 2 |
| Cutaneous syndactyly 0.2899870562307582 0.0306029085663816 0.9755862225371276 1.0 1.0 8 Q9Y619,P98175 2 |
| Abnormality of the voice 0.2490728056447441 0.030544470325764 0.9756328277198704 1.0 1.0 105 Q13409,P35250,P07237,Q9NR77,Q02978,Q13510,Q8WYQ5,Q8N0X7,Q99519,O75844,O96019,P18074,Q6DKK2,O75431,Q9Y487,Q15056,O95140,P04062,Q9Y4P3,O75648,Q13642 21 |
| Hyporeflexia 0.2521785546802567 0.0296454560627421 0.9763498125335994 1.0 1.0 94 P04792,Q9NR77,P40939,Q15120,Q9Y3B2,Q13501,Q96BR5,Q99720,Q9Y3E5,P41440,Q8NC96,Q9HC21,P18074,O95831,Q15067,P12235,O43505,O95140,P04062,P35637,P54802,Q06787,O14979,O75648,Q13642,O43681 26 |
| Hand oligodactyly 0.3070962479608484 0.0292899531340957 0.9766333397036796 1.0 1.0 2 Q15427 1 |
| Onycholysis 0.3171837691011592 0.0268908121387165 0.9785468217201708 1.0 1.0 5 P10321 1 |
| Hypophosphatemia 0.3663810689514462 0.026425644629343 0.9789178398332404 1.0 1.0 3 Q6P1J9,O14745 2 |
| Decreased facial expression 0.2763617708118899 0.0251989271438063 0.9798962927008834 1.0 1.0 19 P04062,P35270,Q9Y263,Q06787,P12235 5 |
| Breathing dysregulation 0.2773246329526873 0.0238164121803388 0.9809990487358812 1.0 1.0 2 Q10713 1 |
| Open mouth 0.2698303950007673 0.0235326008918621 0.981225433929046 1.0 1.0 25 P61978,Q86XL3,P04062,Q03001,Q14738,Q10713,P10644,Q00577,Q8WYQ5,Q15233 10 |
| Accessory oral frenulum 0.2699836867862926 0.0229980849874665 0.9816518005049404 1.0 1.0 2 P17612 1 |
| Underdeveloped tragus 0.2699836867862922 0.0229980849874665 0.9816518005049404 1.0 1.0 2 Q5SRE5 1 |
| Dysgenesis of the cerebellar vermis 0.2679445350734051 0.0227992597493515 0.9818103985066506 1.0 1.0 2 Q10713 1 |
| Abnormality of dental structure 0.2545533065830378 0.0221961877383535 0.9822914585868876 1.0 1.0 63 Q15056,O75844,P35250,P18074,Q15555,Q9Y4P3,P16278,Q9Y487,Q9UBM7 9 |
| Abnormal venous morphology 0.2754862728968788 0.0210709433385001 0.9831890636041568 1.0 1.0 19 P21964,P98175,P36543,P48651,P04062,Q6NUK1,Q9Y487 7 |
| Sandal gap 0.2754551898857576 0.0194941020214854 0.9844469420554612 1.0 1.0 18 Q969G3,O75431,Q14739 3 |
| Tremor by anatomical site 0.2690751765839609 0.0192847300152203 0.9846139653473108 1.0 1.0 25 P35637,Q9NR77,Q15120 3 |
| Lactic acidosis 0.2552715540954826 0.0189056857468657 0.9849163437823912 1.0 1.0 71 O75306,P00403,Q16836,P40939,O43676,Q5XKP0,O75648,Q99797,Q9Y375,Q70HW3 10 |
| Choanal stenosis 0.3507993121270241 0.0187390093574893 0.9850493087444204 1.0 1.0 3 P48651 1 |
| Genital neoplasm 0.269289748976991 0.018187983338281 0.9854888889592002 1.0 1.0 29 Q01844,P48735,O75874 3 |
| Pollakisuria 0.3492452060383508 0.0180732827700644 0.9855803917310204 1.0 1.0 3 Q8WVX9,Q06787 2 |
| Heteronymous hemianopia 0.3087033045465884 0.0173789934437509 0.986134267428962 1.0 1.0 4 Q969G3 1 |
| Functional abnormality of the inner ear 0.2957010464096836 0.0170894060301014 0.9863652904430056 1.0 1.0 205 Q9NR28,O95721,Q16740,P06280,P35250,Q9NR77,Q9H061,Q15120,Q15904,Q9Y375,Q13501,O75306,Q9NWM8,Q13510,Q99519,P41440,O00584,O75844,P18074,P00403,O95831,O43676,Q15067,Q9UBM7,Q9NZ08,O15460,Q15056,Q9UG56,P04062,O96028,P35637,Q15555,Q5XKP0,O43681 34 |
| Abnormal blood gas level 0.3467492905920418 0.0170399753204446 0.986404724700948 1.0 1.0 3 Q9Y3E5 1 |
| Dysuria 0.2962811606048255 0.0153521978360564 0.9877511995273623 1.0 1.0 7 O00170,P07741,Q8N5K1,O76024,P01889,Q8N0X7 6 |
| Ichthyosis 0.2683293448620832 0.0137796437315559 0.9890057829420515 1.0 1.0 30 Q15738,P48449,O95721,P04062,P18074,P51648,Q13642 7 |
| Abnormality of retinal pigmentation 0.251981249392852 0.0127661245743717 0.9898143829665916 1.0 1.0 57 O75306,Q9UG56,P18074,P00403,Q16836,P40939,Q15067,Q9BW83 8 |
| Abnormal iris pigmentation 0.2758793765245256 0.0123560803701027 0.9901415250946606 1.0 1.0 15 Q15056,Q9Y4P3,P35250 3 |
| Abnormal magnesium concentration 0.333741330069355 0.0123275176065418 0.9901643131471148 1.0 1.0 3 Q15813,Q9NP81 2 |
| Reduced systolic function 0.3333333333333276 0.0121968984138964 0.9902685243492132 1.0 1.0 3 P15924,P14923 2 |
| Male sexual dysfunction 0.2815621520247475 0.0121873406608689 0.9902761497660182 1.0 1.0 10 Q9BZH6,Q969G3,O43464 3 |
| Gaze evoked nystagmus 0.2817868837532344 0.0117588396529582 0.9906180195966694 1.0 1.0 9 P41440,Q9UBB4,Q10713 3 |
| Occipital meningocele 0.2975497369090955 0.0089226099434209 0.9928808817465596 1.0 1.0 4 P21964 1 |
| Anterior uveitis 0.3178294573643374 0.0079214636730282 0.9936796525362644 1.0 1.0 3 P01889,P14174 2 |
| Feeding difficulties in infancy 0.259409515376468 0.0075853193777246 0.9939478488169848 1.0 1.0 125 Q9Y619,Q9BUF5,Q9UHX1,O75306,O75648,P10253,P22695,Q99720,P23786,P35637,P18074,Q16836,P16219,O95831,P40939,Q9Y487,Q9UBM7,O43681 18 |
| Open bite 0.2746334243486966 0.0073434063425567 0.9941408621152236 1.0 1.0 14 P35250,Q15056,Q9Y4P3,P61978 4 |
| Pneumonia 0.262489471582204 0.0066163763477964 0.9947209339801092 1.0 1.0 44 Q13510,P04062,P16278 3 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2491286398973989 0.0065228005958706 0.9947955950166256 1.0 1.0 108 Q9UHX1,O75844,Q03164,O95831,Q13510,Q9UBM7,Q14739 7 |
| Hypercalcemia 0.2741124925566084 0.00555915797001 0.995564456530858 1.0 1.0 15 Q15056,Q9Y4P3,P35250 3 |
| Babinski sign 0.2540101595704737 0.0048717578113572 0.9961129150343816 1.0 1.0 73 P41440,O95140,P35637,Q9NR77,O60701,Q6DKK2,P40939,O95831,Q15067,O43681,Q99720,P37198,Q8N0X7,Q13501 14 |
| Abnormal ventricular septum morphology 0.2502465103472744 0.0048390713197413 0.99613899477397 1.0 1.0 110 O75306,Q9UHX1,Q15056,Q8N183,P61978,P06280,O96028,P35250,P18074,Q14738,Q9Y4P3,Q9Y5S9,Q969G3,Q9UBM7,Q8WYQ5,P42892,Q14739 17 |
| Hypoventilation 0.278549044335368 0.0046763354937621 0.9962688377073112 1.0 1.0 10 O75306,Q8N183,P61978 3 |
| Chronic otitis media 0.2715249769469015 0.0045987107602317 0.9963307726177072 1.0 1.0 20 P21964,Q15056,O96028,Q13363,Q03519,P35250,Q9Y4P3,Q06787,P54819 9 |
| Small earlobe 0.289794634868279 0.0038673015149868 0.9969143475207384 1.0 1.0 4 P21964 1 |
| Prolonged neonatal jaundice 0.272693284341724 0.0026810372683594 0.9978608443193338 1.0 1.0 13 P61916,Q15904 2 |
| Acne 0.2767421761898899 0.0012113546228724 0.9990334790851284 1.0 1.0 11 Q9NZ08,Q92542,P21964 3 |
| Syringomyelia 0.2713178294573598 0.0011332999344398 0.999095757673115 1.0 1.0 3 Q9Y2U8,O60341 2 |
| Dermal atrophy 0.266000400475892 0.0001728219369065 0.9998621080454606 1.0 1.0 26 Q9NWM8,Q15392,O75844 3 |
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