| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Hematological neoplasm 0.5255382871848114 3.6441573456439222 0.0002682692729514 0.696329479923262 0.6542553366165835 64 Q07864,P54132,Q7Z2Z2,O76094,P61313,P08708,Q9NVI1,O60934,P42766,Q9H0U3,P40763,P18077,P22681,P33991,P50851,P60866,Q08J23,P21359,Q07020,P00813,P22314,Q06124,P52701,P62899,P49327,P35658 26 |
| Abnormal soft palate morphology 0.4988858978552291 3.20272692377646 0.0013613300043031 0.9976448423678702 0.6542553366165835 59 Q9NXE4,P21333,P61313,Q86W42,Q93008,Q13618,P08708,Q9NVI1,P62266,Q13428,Q15436,P18077,P60866,Q69YQ0,Q6PGP7,Q9Y617,Q15392,Q07020,Q14683,A6NHR9,P62899 21 |
| Polymicrogyria 0.4773308739815204 3.1322501474929942 0.001734720064171 0.999552716446676 0.6542553366165835 63 Q5T440,Q05639,P51659,Q8IY37,P38606,P49591,Q9UN37,Q08J23,Q14204,Q96C86,Q9Y617,Q00610,Q15392,Q9BVA1,Q96F86,Q6ZXV5,Q9NZ01,Q9Y4A5,Q15042,P46821,Q01105,P55011,Q96N66 23 |
| Abnormal large intestine morphology 0.4601128796271007 2.935191254012862 0.0033334215875946 0.9999996380619448 0.6542553366165835 63 Q07864,P54132,O15143,P53701,P61313,P08708,P78347,Q13428,P42766,P18077,P50851,P60866,Q9UPY3,Q9Y4P3,Q6PGP7,P10644,Q07020,Q15437,P52701,P62899,P49327 21 |
| Tonic seizure 0.6519060950658213 2.7990109853364897 0.0051259393526883 0.9999999998781196 0.6542553366165835 20 P27635,Q05639,Q96T60,Q15046,P43034,Q00610,Q13618,Q14204 8 |
| Smooth philtrum 0.4849554371304919 2.775449180732026 0.0055125513776352 0.999999999978317 0.6542553366165835 56 Q9NXE4,P27635,O14617,P21333,Q86W42,Q93008,Q7Z6Z7,P38606,Q12830,O60701,Q15436,O00203,Q9BZK7,Q69YQ0,Q08J23,P26196,P29372,P46109,P28482,P18583,Q14683,Q96ST3,Q9Y4A5,P55011,Q9UQE7 25 |
| Lymphoma 0.6557663449853817 2.739868853583412 0.0061463704340773 0.9999999999987228 0.6542553366165835 18 O60934,Q07864,P54132,P52701,Q9H0U3,P40763,P50851,P49327,P00813 9 |
| Generalized tonic seizure 0.7126311437076943 2.6979334898743463 0.0069771378897245 0.9999999999999688 0.6542553366165835 14 P27635,Q05639,Q96T60,Q15046,P43034,Q00610,Q14204 7 |
| Thoracolumbar scoliosis 0.8610398939666093 2.6968143610954094 0.0070006285219637 0.999999999999972 0.6542553366165835 7 Q93008,P27635,Q6NW34 3 |
| Cleft soft palate 0.4960374404526859 2.654567711409489 0.0079410100518269 0.9999999999999996 0.6542553366165835 53 Q9NXE4,P21333,P61313,Q93008,Q13618,P08708,P62266,Q13428,Q15436,P18077,P60866,Q69YQ0,Q6PGP7,Q9Y617,Q15392,Q07020,Q14683,A6NHR9,P62899 19 |
| Multiple cafe au lait spots 0.7813275973461375 2.6160573369631424 0.008895161916981 1.0 0.6542553366165835 11 P21359,Q15437,P52701,Q9NVI1 4 |
| Autoimmunity 0.6158254108720853 2.6155234028232934 0.0089090815680106 1.0 0.6542553366165835 26 O60934,P11586,Q969U7,P53621,Q9H0U3,P40763,P50851,P49327,P00813,P14174,Q15437 11 |
| Renal hypoplasia aplasia 0.4393317840941395 2.6008305345482436 0.0092998381424165 1.0 0.6542553366165835 67 P35606,P61313,Q86W42,P08708,P78347,Q9NVI1,P54886,P18077,P42695,P60866,O75306,Q9Y4P3,Q6PGP7,P10644,P21359,Q15392,Q07020,P33992,Q9Y4A5,P62899,O95169 21 |
| Neoplasm of the genitourinary tract 0.4636918390716351 2.5507312071170687 0.0107497196154298 1.0 0.6542553366165835 56 Q07864,P54132,O60934,Q9UPY3,P52701,Q07020,P10644,P18077,Q9NWH9,P21359,P62899,Q01844,P61313,Q8IY37,P60866,P08708,Q15437 17 |
| Colpocephaly 0.9119459447993106 2.547708390685591 0.0108433068712274 1.0 0.6542553366165835 6 P53701,Q8IY37 2 |
| Non hodgkin lymphoma 0.820746059423348 2.5166934106324086 0.0118461861662957 1.0 0.6542553366165835 7 O60934,Q07864,P52701,Q9H0U3,P49327 5 |
| Malignant genitourinary tract tumor 0.604176662638372 2.4852456310378352 0.012946207164747 1.0 0.6542553366165835 20 P54132,P52701,Q07020,P18077,P62899,P61313,P60866,P08708 8 |
| Finger clinodactyly 0.4173164122929628 2.478221715905032 0.0132039066943066 1.0 0.6542553366165835 61 P54132,P27635,P43034,P78347,Q9NVI1,Q93009,Q12830,Q03164,O75369,P22681,Q69YQ0,P15924,Q08J23,Q9Y4P3,P46109,P28482,Q06124,Q14683,Q9Y4A5,P46821,Q13620,Q9UQE7 22 |
| Cubitus valgus 0.6729228968023615 2.4733215473762753 0.0133863639755769 1.0 0.6542553366165835 14 Q06124,Q99575,P21359,P28482,Q13620,P22681,P36507 7 |
| Disinhibition 0.5346951358404252 2.448158799264467 0.0143588355402712 1.0 0.6542553366165835 43 O95319,Q05639,P17480,O96008,P26358,Q14203,P38606,Q93009,P49588,P49591,Q08J23,Q96C86,Q00610,Q9H269,Q96F86,Q6Y7W6,O75165,Q9NZ01,Q96T58,P55011,Q04637,Q96N66 22 |
| Large basal ganglia 0.6928419847581868 2.4305286624708495 0.0150768135011398 1.0 0.6542553366165835 13 Q96C86,Q9NZ01,P49591,P55011,Q96F86,Q96N66 6 |
| Autoimmune hemolytic anemia 0.7790792121910295 2.4292794475764845 0.0151288665129099 1.0 0.6542553366165835 9 O60934,Q969U7,P40763,P50851,P49327 5 |
| Deeply set eye 0.4290979688804462 2.425371207744003 0.0152927408699277 1.0 0.6542553366165835 59 Q4G0J3,Q05639,P19022,P78527,P51571,Q86W42,P63241,Q7Z6Z7,Q12830,O60701,P40763,Q8IWS0,Q9NSD9,Q9BZK7,Q96C86,P46109,P21359,P28482,P18583,P18074,Q96ST3,Q14683,Q9Y4A5,Q14738,Q96T58,Q15042,P35573,Q15149 28 |
| Abnormal stomach morphology 0.4135485139565922 2.409292073687499 0.0159835008285174 1.0 0.6542553366165835 62 P54132,P20585,P21333,P51610,Q93008,P78347,O60488,P54886,P50851,P60866,Q69YQ0,P11802,Q9BZI7,Q9Y4P3,Q6PGP7,P10644,P46109,P28482,Q8NBU5,Q6ZXV5,P52701,Q14683,Q14738,Q96T58,P46821,Q6KC79,Q15149,P49327,Q9UQE7 29 |
| Midface retrusion 0.4380832054261504 2.3864281387548405 0.0170129319393446 1.0 0.6542553366165835 76 P55795,O95602,Q8N5F7,P21333,P51610,P53701,Q8IY37,Q93008,Q6NW34,Q12830,Q13428,O75369,Q99575,O60488,Q15436,Q8TD16,P22681,Q9BZK7,Q12756,Q9BZI7,P10644,O14646,P21359,Q14807,Q06124,P18583,Q14683,P42345,Q14738,A6NHR9,Q15042,P35573,Q9Y3E5,P42704 34 |
| Nasogastric tube feeding 0.5871619963152026 2.374575395557272 0.0175691476825012 1.0 0.6542553366165835 21 Q96C86,Q9NZ01,Q9Y617,P49591,P55011,Q9HA77,Q96F86,Q96N66 8 |
| Hypsarrhythmia 0.498720274038054 2.3672484398547393 0.0179208983915826 1.0 0.6542553366165835 48 O95319,Q05639,P51610,P43034,Q13618,P38606,O60701,P49588,P08243,P49591,Q13813,Q08J23,Q96C86,P21359,Q8NBU5,Q00610,Q96F86,Q8IYI6,Q9NZ01,Q14683,Q96T60,P55011,Q96N66 23 |
| Abnormal lateral ventricle morphology 0.5761101609878819 2.361964587784305 0.0181783785533231 1.0 0.6542553366165835 28 Q12756,O75787,P18583,Q05639,Q9Y617,Q5H8A4,Q15042,Q01105,P53701,Q969M3,P36507,Q00610,Q9UID3,Q8IY37,Q9BVA1,Q9NVI1,Q14204 17 |
| Autoimmune thrombocytopenia 0.7757795535177225 2.360972028290253 0.0182271053688156 1.0 0.6542553366165835 8 P49327,Q9H0U3,P40763,P50851 4 |
| Protruding ear 0.5438409737892488 2.339979084581819 0.0192848198460879 1.0 0.6542553366165835 38 P54132,Q9NXE4,P27635,Q8N5F7,P19447,P21333,Q06136,Q8IY37,Q7Z6Z7,P38606,P78347,Q8N201,P54886,Q08J23,Q9BZI7,Q9Y4P3,P26639,P21359,Q00610 19 |
| Abnormality of the frontal hairline 0.4155564738548372 2.3174287268849567 0.0204803889907541 1.0 0.6542553366165835 67 Q9NXE4,Q9NR45,P61313,Q86W42,P08708,Q6NW34,O60934,Q13428,P42766,P18077,P60866,P51532,Q69YQ0,Q08J23,Q92785,P29372,Q07020,Q14683,Q96ST3,Q5H8A4,P62899,Q96GM5,P42704 23 |
| Dyskinesia 0.4556651672780757 2.314478388778349 0.0206414953630242 1.0 0.6542553366165835 54 Q05639,Q9NYY8,P38606,P49591,P60866,Q14204,O75306,Q96C86,Q00610,Q96F86,O75165,P52701,Q9NZ01,Q96T60,Q01105,P55011,O95169,Q04637,P42704,Q96N66 20 |
| Absent thumb 0.5752798186323957 2.297855777770004 0.0215699989205195 1.0 0.6542553366165835 22 Q07020,P18077,P62899,P61313,P60866,Q13618,P08708,Q9NVI1 8 |
| Abnormal granulocyte count 0.4042680284647055 2.297067609825163 0.0216149131579277 1.0 0.6542553366165835 62 Q7Z2Z2,O14617,P49327,Q07020,P19447,P10644,P40763,P18077,O00203,P62899,Q9Y4L1,P22681,P61313,P05165,P50851,P60866,P08708,Q9NVI1 18 |
| Long fingers 0.4117452804139803 2.2944136453672876 0.0217667501020379 1.0 0.6542553366165835 66 P55795,P27635,Q8N5F7,P21333,A5YKK6,O00170,Q06136,Q93008,Q7Z6Z7,Q03164,O60488,P53992,Q8IWS0,Q15334,Q14839,Q9P2J5,Q12756,Q9BZI7,P26196,P46109,P28482,O43776,P18583,Q14683,Q96ST3,Q5H8A4,P46821,Q9Y3E5 28 |
| Macule 0.4785617101347034 2.287574640237007 0.0221623041350236 1.0 0.6542553366165835 50 P54132,Q15477,P19447,Q06136,Q7Z6Z7,Q9NVI1,O60934,Q12830,P22681,P36507,Q6PGP7,P26196,P10644,P55265,P21359,P28482,Q15437,Q06124,P52701,P18074,Q96ST3,P42345,Q96T58,P55011,Q15149 25 |
| Ambiguous genitalia 0.6028054971377721 2.275365208807828 0.0228840306346689 1.0 0.6542553366165835 16 Q15392,Q9Y617,Q8IY37,P53701 4 |
| Abnormality of the septum pellucidum 0.5517393219518524 2.2703139599647417 0.0231885406492788 1.0 0.6542553366165835 33 Q96C86,Q9NZ01,Q9Y617,P49591,P43034,P53701,P28482,Q96F86,P55011,Q15392,Q9BVA1,Q69YQ0,Q08J23,Q9NVI1,Q96N66 15 |
| Abnormal erythrocyte enzyme level 0.5817652235771255 2.26249780388756 0.0236666643698721 1.0 0.6542553366165835 18 Q07020,P18077,P62899,P61313,P60866,P08708,P00813 7 |
| Triphalangeal thumb 0.5703412398193162 2.256626712396822 0.0240314097728906 1.0 0.6542553366165835 20 Q07020,P18077,P62899,P61313,P60866,P08708,Q9NVI1 7 |
| Hyperpigmentation of the skin 0.4196587804237357 2.2541934608922545 0.0241839999941222 1.0 0.6542553366165835 72 P54132,Q15477,O60832,P19447,P53701,O00170,Q06136,Q7Z6Z7,Q9NVI1,O60934,Q12830,Q15436,P22681,P36507,P33991,Q6PGP7,P26196,P10644,P55265,P21359,P28482,Q9NW13,Q15437,Q06124,P52701,P18074,Q96ST3,P42345,P55011,Q15149,Q7Z392 31 |
| Abnormality of the hairline 0.4393871865986776 2.253737065537118 0.0242127140978067 1.0 0.6542553366165835 83 Q9NXE4,Q9NR45,P61313,Q86W42,P08708,Q7Z6Z7,Q6NW34,O60934,Q13428,P42766,P18077,P22681,P36507,P60866,P51532,Q69YQ0,Q08J23,Q92785,P29372,P21359,P28482,Q07020,Q06124,Q14683,Q96ST3,Q5H8A4,P62899,Q15042,Q9UID3,Q96GM5,P42704 31 |
| Aplasia hypoplasia of the ear 0.4920163452520477 2.2530304831237733 0.0242572270123029 1.0 0.6542553366165835 47 Q07864,Q13428,P33992,O95602,P42766,Q6PGP7,P63241,Q07020,Q5H8A4,P18077,P98175,P62899,A5YKK6,P46821,P61313,Q15149,P60866,P08708 18 |
| Cleft lip 0.4969547312359764 2.249692405947441 0.0244684779244022 1.0 0.6542553366165835 46 Q9NXE4,O60934,Q13428,Q8N201,Q14683,P29372,Q07020,Q9Y4A5,P18077,P62899,A6NHR9,P61313,P60866,P08708,Q69YQ0 15 |
| Stereotypy 0.4353265109077592 2.2447102893333004 0.0247867370750705 1.0 0.6542553366165835 56 P55795,Q05639,P29401,Q7Z6Z7,Q03164,P49591,Q08J23,Q14204,Q12756,Q96C86,P26196,O14646,Q00610,Q96F86,O43776,Q9NZ01,Q14683,Q14738,Q96T58,Q01105,P55011,Q96N66 22 |
| Prominent digit pad 0.632576470637906 2.2393630215714744 0.0251323053629981 1.0 0.6542553366165835 14 Q12830,P55795,P55011,P46821,Q9BZK7,Q7Z6Z7,P62266 7 |
| Triangular shaped phalanges of the hand 0.4775866440633501 2.2216897271027345 0.0263042812786564 1.0 0.6542553366165835 49 P21333,A5YKK6,P61313,Q93008,Q7Z6Z7,P08708,Q9NVI1,Q12830,O75369,P42766,P18077,P60866,Q08J23,Q69YN2,Q07020,Q14683,P62899,P55011,Q9UQE7 19 |
| Neoplasm of striated muscle 0.7554119688066159 2.2163333780245686 0.0266686786978056 1.0 0.6542553366165835 7 P21359,Q9UPY3 2 |
| Rhabdomyosarcoma 0.7554119688066159 2.2163333780245686 0.0266686786978056 1.0 0.6542553366165835 7 P21359,Q9UPY3 2 |
| Adenocarcinoma of the colon 0.5644741324126369 2.21530196669784 0.0267393449559874 1.0 0.6542553366165835 19 Q07864,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Neoplasm of the large intestine 0.5302934812466438 2.2006706516250194 0.0277593479288023 1.0 0.6542553366165835 37 Q07864,P54132,Q9UPY3,P52701,Q07020,P10644,P18077,P62899,P61313,P60866,P08708,Q15437 12 |
| Adenocarcinoma of the intestines 0.5612985977756316 2.1946775558463396 0.028186735827087 1.0 0.6542553366165835 20 Q07864,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Abnormality of the zygomatic bone 0.3986689924971497 2.182059403577882 0.0291051488395959 1.0 0.6542553366165835 64 Q07864,P54132,P21333,A5YKK6,P38606,P78347,O60934,Q13428,O75369,O60488,P53992,Q15436,P36507,Q9BZK7,Q9Y4P3,P10644,P46109,P21359,P28482,Q14807,Q15042,P35573,P42704 23 |
| Ankle flexion contracture 0.7371070168959267 2.1779780414630356 0.0294076715952369 1.0 0.6542553366165835 8 Q9Y617,P27635,Q5JTV8,P21333 4 |
| Macrotia 0.4070973131340298 2.169808732197174 0.0300213385844889 1.0 0.6542553366165835 69 P27635,O14617,O95602,P21333,P51571,O00170,Q7Z6Z7,P38606,P78347,O60934,Q12830,P08243,P54886,Q8IWS0,P22681,P36507,Q9BZK7,Q92785,Q12756,Q9Y4P3,Q9Y617,O43776,Q14683,Q96ST3,Q15042,Q01105,P55011,Q9UQE7 28 |
| Inguinal hernia 0.391240619131988 2.1617712275290426 0.0306358143020255 1.0 0.6542553366165835 61 P27635,P21333,P24928,P43034,P38606,P78347,O75369,P54886,Q9NSD9,Q69YQ0,Q9Y4P3,Q6PGP7,P46109,P28482,Q8NBU5,P22314,Q96ST3,Q9Y4A5,A6NHR9,Q13620,Q7LBC6,O00469 22 |
| Chronic constipation 0.5529315851573204 2.1532289595733265 0.0313006887699149 1.0 0.6542553366165835 24 P55795,O75165,Q9BZI7,P55011,Q93008,P63241,Q04637 7 |
| Bronchiectasis 0.6423172501552076 2.1494055720806937 0.0316022641358761 1.0 0.6542553366165835 13 O60934,Q9H0U3,Q86Y56,P50851,P15924 5 |
| Anal atresia 0.5546351404465928 2.148114328635672 0.0317046742194824 1.0 0.6542553366165835 19 O60934,P29372,P53701,Q86W42,Q93008,Q69YQ0,Q9NVI1 7 |
| Sloping forehead 0.5302190784890802 2.148065470720959 0.031708554781237 1.0 0.6542553366165835 35 Q9NXE4,P26640,O60934,Q9H267,Q96T60,Q9Y617,P08243,P35606,P98175,A5YKK6,Q15021,Q15003,P42695,Q08J23,Q9NVI1 15 |
| Abnormal aortic morphology 0.4286632693932783 2.1469457317838896 0.0317976022449348 1.0 0.6542553366165835 82 Q8N5F7,P21333,P53701,P61313,Q7Z6Z7,P08708,Q9NVI1,P78347,Q12830,O75369,P42766,P53992,P54886,P18077,Q14839,P60866,Q69YQ0,Q9Y4P3,P26196,P46109,P21359,P53597,P28482,P55263,Q07020,Q6ZXV5,Q06124,Q9Y4A5,P62899,P46821,P55011 31 |
| Irregular hyperpigmentation 0.4391839739396951 2.1415861759929027 0.0322267971280791 1.0 0.6542553366165835 54 P54132,Q15477,P19447,Q06136,Q7Z6Z7,Q9NVI1,O60934,Q12830,Q15436,P22681,P36507,Q6PGP7,P26196,P10644,P21359,P28482,Q15437,Q06124,P52701,P18074,Q96ST3,P42345,P55011,Q15149 24 |
| Recurrent lower respiratory tract infections 0.5527799580683622 2.1412692127729827 0.0322523343767593 1.0 0.6542553366165835 22 O60934,P11586,P78527,P40763,O00203,P50851,Q93008 7 |
| Poor speech 0.4024967005811274 2.1366284852649375 0.0326282208592576 1.0 0.6542553366165835 68 Q05639,P27708,P51610,Q93008,Q9Y399,P38606,O60488,P49591,Q08J23,Q14204,Q12756,Q96C86,Q9BZI7,P55263,Q00610,Q9H270,Q96F86,Q9NZ01,Q14683,Q9Y4A5,Q14738,Q01105,P55011,Q7Z392,Q9UQE7,P42704,Q96N66 27 |
| Focal onset seizure 0.4116648411877412 2.1358250725831995 0.0326936746772132 1.0 0.6542553366165835 73 O43776,P27635,O14617,Q96C86,Q9NZ01,Q05639,Q14683,Q9ULM3,P49591,P21359,P43034,P46821,Q96F86,P55011,Q00610,Q9HA77,Q6ZXV5,Q14204 18 |
| Absent septum pellucidum 0.5466508021919066 2.1348147620584768 0.0327761439882658 1.0 0.6542553366165835 27 Q96C86,Q9NZ01,Q9Y617,P49591,P53701,Q15392,Q96F86,Q9NVI1 8 |
| Retrognathia 0.3922352917660915 2.1267905970594696 0.0334374859250123 1.0 0.6542553366165835 63 P54132,O60934,O43776,P27635,O14617,Q8N201,Q5T440,Q14683,Q96ST3,P19447,Q9Y617,P51659,Q12797,P53701,Q86W42,Q15392,P38606,Q6NW34 18 |
| Hypotelorism 0.5343520885102192 2.116512193553876 0.0343012692571598 1.0 0.6542553366165835 32 Q9NXE4,P55795,O43776,O14617,Q14683,P19447,P26639,Q9Y4A5,P54886,P21359,A5YKK6,Q9NSD9,Q93008,Q7Z6Z7,Q08J23 15 |
| Broad eyebrow 0.6595249530096302 2.113530259861614 0.0345554078599783 1.0 0.6542553366165835 12 Q12830,Q96ST3,O14646,P28482,P63241,Q6NW34 6 |
| Erythroid hypoplasia 0.5592574771889349 2.112706470776335 0.0346258991153676 1.0 0.6542553366165835 18 Q07020,P18077,P62899,P61313,P60866,P08708 6 |
| Gastrointestinal inflammation 0.6107853994471595 2.110632609886838 0.0348039024807 1.0 0.6542553366165835 14 O15143,Q8NBU5,P50851,P49327,Q7Z392 5 |
| Uveitis 0.8350264120276347 2.108119285959513 0.0350206726230513 1.0 0.6542553366165835 5 P54132,P49327,P14174,P50851 4 |
| Skin rash 0.5670617284302987 2.103353087078427 0.0354349160712654 1.0 0.6542553366165835 17 Q7Z2Z2,P19447,P40763,P50747,Q06136,P22681,P14174 7 |
| Abnormality of the lymph nodes 0.5313175812322872 2.093153681784519 0.0363354379463556 1.0 0.6542553366165835 32 O15143,Q969U7,P10644,Q9H0U3,P40763,P22681,P33991,P50851,P49327,Q01844,P14174 11 |
| Monotonic speech 0.8035114654746187 2.093085435245617 0.0363415286317865 1.0 0.6542553366165835 6 Q69YN2,O75165 2 |
| Abnormal speech prosody 0.8035114654746187 2.093085435245617 0.0363415286317865 1.0 0.6542553366165835 6 Q69YN2,O75165 2 |
| Abnormal fingertip morphology 0.5455233639300981 2.0903074803145647 0.0365901877602383 1.0 0.6542553366165835 22 P55795,Q12830,O14646,P46821,P55011,P50851,Q9BZK7,Q7Z6Z7,P15924,P62266 10 |
| Abnormality of the thenar eminence 0.5648898976942395 2.0891231709749323 0.0366966370608179 1.0 0.6542553366165835 17 Q07020,P18077,P62899,P61313,P60866,P08708 6 |
| Abnormal bronchus morphology 0.5554016733258849 2.0868401442746314 0.0369025869777279 1.0 0.6542553366165835 18 O60934,Q9H0U3,Q86Y56,P50851,P15924 5 |
| Abnormality of the antihelix 0.6962770140189948 2.079110588848991 0.0376071870702152 1.0 0.6542553366165835 10 P98175,P27635,Q08J23,P21333 4 |
| Gastroesophageal reflux 0.4481246251061143 2.0788574552520984 0.0376304541336627 1.0 0.6542553366165835 97 P54132,P55795,P27635,O95319,Q05639,P21333,P24928,P51571,Q93008,P63241,P38606,P78347,Q6NW34,Q03164,Q93009,P49588,P53992,Q15436,P54886,O00203,Q7L0Y3,Q9NSD9,P15924,Q14204,Q12756,Q9Y4P3,P29372,P55265,P53597,P28482,Q8NBU5,Q00610,Q6ZXV5,P18583,Q14683,Q96T58,P46821,P55011,Q01105,P12235,Q9UQE7,P35658,P42704 43 |
| Coarctation of aorta 0.5141872845757623 2.0698135623652423 0.0384698068270561 1.0 0.6542553366165835 37 P42766,Q07020,Q9Y4A5,P18077,P53597,P21359,P62899,P61313,P55263,Q14839,P60866,P08708,Q69YQ0 13 |
| Abnormal platelet volume 0.7132483105512621 2.063247691635523 0.0390891010725948 1.0 0.6542553366165835 8 P35579,O15143,P21333 3 |
| T cell lymphoma 0.8842404549146955 2.0540075330882717 0.0399749626156396 1.0 0.6542553366165835 4 Q07864,P49327,P52701 3 |
| Pulmonary artery stenosis 0.6251909822608679 2.052263092198417 0.04014410081448 1.0 0.6542553366165835 13 P22681,P27635 2 |
| Abnormal paranasal sinus morphology 0.5498776601477962 2.049680933004364 0.0403955768414401 1.0 0.6542553366165835 18 O60934,Q7Z2Z2,P10644,Q9H0U3,P21333,Q86Y56,P21359,A6NHR9,P50851 9 |
| Abnormal pulmonary valve physiology 0.5248389115485291 2.0431480165762266 0.0410377878717809 1.0 0.6542553366165835 32 Q06124,Q9Y4P3,Q6PGP7,P54886,P21359,P36507,P55263,O95169,Q13618,Q9UQE7,P00813,P15924,P78347,O75306 14 |
| Gastrointestinal carcinoma 0.5364311191725324 2.0419769838809168 0.0411538144548202 1.0 0.6542553366165835 25 Q07864,P52701,Q07020,P18077,P62899,P61313,P60866,P08708 8 |
| Prolonged bleeding time 0.7081200510664747 2.0384079492620675 0.0415091519749721 1.0 0.6542553366165835 8 O00203,P21359,P36507,Q15149,P35579 5 |
| Partial duplication of the phalanx of hand 0.5474683919760914 2.0334370576445955 0.0420083865962628 1.0 0.6542553366165835 18 Q07020,P18077,P62899,P61313,P60866,P08708 6 |
| Duplication of thumb phalanx 0.536132859025222 2.020684109926683 0.043312475773382 1.0 0.6542553366165835 19 P60866,P18077,P62899,P61313,Q07020,P08708 6 |
| Interictal eeg abnormality 0.4021384020816395 2.020446182501308 0.0433371271461999 1.0 0.6542553366165835 73 P27635,O95319,Q05639,P51610,P43034,Q13618,P38606,O60701,P49588,P08243,P49591,Q13813,Q08J23,Q96C86,Q9Y617,P21359,Q8NBU5,Q00610,Q9HA77,Q96F86,Q8IYI6,Q9NZ01,Q14683,Q96T60,Q5H8A4,P46821,P55011,P42704,Q96N66 29 |
| Primary gonadal insufficiency 0.7119699757228186 2.0109561855016365 0.0443300848663352 1.0 0.6542553366165835 7 P49770,Q8IY37 2 |
| Antenatal onset 0.682315771491026 2.008907136752246 0.0445469829272289 1.0 0.6542553366165835 10 P27635 1 |
| Immunodeficiency 0.4553473896741685 2.006952507100184 0.044754720177909 1.0 0.6542553366165835 49 Q07864,Q7Z2Z2,O14617,P78527,P61011,P14174,Q9H0U3,Q9Y4L1,P50851,P11586,Q6PGP7,O14646,P46109,P28482,P00813,Q15437,P48506,Q9NRZ9,Q13620,P35573 20 |
| Abnormality of the pulmonary vasculature 0.5222500533341962 2.0061903264540444 0.0448359455685822 1.0 0.6542553366165835 31 P27635,Q9Y4P3,Q14683,Q86Y56,P55011,P22681,Q15392,Q7Z6Z7 8 |
| Aplasia of the fingers 0.5310683808110702 1.996695667156006 0.0458582531064248 1.0 0.6542553366165835 24 Q07020,P18077,P62899,P61313,P60866,Q13618,P08708,Q9NVI1 8 |
| Abnormality of earlobe 0.5316941009316384 1.9961975472375904 0.0459124243387483 1.0 0.6542553366165835 23 O60701,P53992,P46109,P98175,Q8IWS0,P53701,P28482,Q13620,Q96GM5,Q9BZK7,Q15392 11 |
| Impaired antigen specific response 0.7802494633306319 1.99255945099304 0.0463097090993378 1.0 0.6542553366165835 6 P49327,Q9H0U3,P50851 3 |
| Abnormal tracheobronchial morphology 0.4685310371034589 1.988265489910336 0.046782335363358 1.0 0.6542553366165835 46 P54132,O60934,Q9UPY3,Q9Y4P3,Q9H0U3,Q9Y4A5,Q86Y56,P55011,P50851,Q93008,Q9NVI1,Q69YQ0,P15924,P78347 14 |
| Autism 0.509345258830626 1.9815652876123928 0.0475279154795809 1.0 0.6542553366165835 35 P27635,O95319,Q9Y4P3,Q05639,P49588,P53992,P10644,Q14683,Q96ST3,Q96T58,Q9HCK8,Q00610,Q15437,Q9UQE7,P38606,P78347 16 |
| Abnormality of the chin 0.3821422500635427 1.9793791929073552 0.047773329355133 1.0 0.6542553366165835 64 Q9NXE4,P27635,P78527,P21333,O00170,Q9HCK8,Q86W42,Q8IY37,P78347,O60701,Q69YQ0,Q08J23,Q9BZI7,Q9Y4P3,P10644,O14646,P46109,P28482,Q06124,P55011,Q7LBC6 21 |
| T lymphocytopenia 0.7765669833572895 1.9765521185258823 0.0480922789938804 1.0 0.6542553366165835 6 O60934,P49327,Q9H0U3 3 |
| Abnormal morphology of the limbic system 0.6856303764932258 1.9757983770936376 0.0481776173310022 1.0 0.6542553366165835 9 Q05639,Q9UID3,Q00610,Q9HA77,Q14204 5 |
| Reticulocytopenia 0.5385273773020821 1.972961708583877 0.0484999251101574 1.0 0.6542553366165835 18 Q07020,P18077,P62899,P61313,P60866,P08708 6 |
| Skin dimple 0.5283019330611135 1.9657413606751608 0.0493284944973972 1.0 0.6542553366165835 20 P43034,P53701,P27635,Q9Y4P3 4 |
| Tall stature 0.4751139077135762 1.9648473006773972 0.0494319137069758 1.0 0.6542553366165835 44 Q12830,Q9UPY3,Q9BZI7,Q8N5F7,P10644,Q5H8A4,P49591,P21359,P43034,A5YKK6,O00170,Q15334,Q9HCK8,Q9NSD9,P55011,Q7Z6Z7,P38606 17 |
| Cortical dysplasia 0.5255473188928563 1.962954145182801 0.0496515024262638 1.0 0.6542553366165835 25 Q96C86,Q9NZ01,Q96ST3,P51659,P08243,P49591,P55011,Q9BVA1,Q96F86,Q08J23,Q96N66 11 |
| Abnormal uvula morphology 0.506723986056627 1.9605225309868788 0.049934747154916 1.0 0.6542553366165835 35 Q9NXE4,Q14683,Q9Y617,Q15436,P21333,A6NHR9,Q15392,Q93008,Q13618,Q69YQ0,Q9NVI1,P62266 12 |
| Sarcoma 0.4451080835285674 1.9592532238007812 0.0500831388105025 1.0 0.6542553366165835 50 O60934,Q9UPY3,P52701,P49327,Q07020,P10644,P18077,P21333,P21359,P62899,P61313,Q15392,P60866,Q92804,P08708,Q15437 16 |
| Thyroiditis 0.7719481703092709 1.9564390632828337 0.0504134542582099 1.0 0.6542553366165835 6 P49327,P50851,Q15437 3 |
| Muscle stiffness 0.5527532314971693 1.955467188178604 0.0505279525319244 1.0 0.6542553366165835 16 Q8NBU5,P53985 2 |
| B cell lymphoma 0.8594638505280219 1.95484645419946 0.0506011962299295 1.0 0.6542553366165835 4 O60934,P49327,Q9H0U3 3 |
| Immunologic hypersensitivity 0.5244314481354321 1.95482625463804 0.0506035811770524 1.0 0.6542553366165835 25 Q93009,P18074,P42345,P53992,P40763,O14646,Q9UID3,P22681,P50851,P49327,P00813,Q08J23 12 |
| Cessation of head growth 0.7000971346403975 1.954062591733762 0.0506938153922669 1.0 0.6542553366165835 7 P49770 1 |
| Prominent forehead 0.3761983346200533 1.952707998991377 0.0508542053259013 1.0 0.6542553366165835 62 Q15477,Q4G0J3,P78527,P21333,Q9NR45,Q93008,Q7Z6Z7,Q12830,O75369,P40763,P54886,Q9NSD9,Q69YQ0,Q92785,Q14204,Q9BZI7,Q6PGP7,P26196,P29372,Q15392,P18583,P42345,Q9Y4A5,Q14738,P55011,P42704 26 |
| Deep philtrum 0.5431323928545659 1.9455902010679305 0.051703985013964 1.0 0.6542553366165835 17 Q9NXE4,P22681,Q8N201 3 |
| Eeg with multifocal slow activity 0.6980986902909558 1.9444549255158416 0.0518406159083779 1.0 0.6542553366165835 7 O95319,Q00610,P38606,Q05639 4 |
| Epileptic spasm 0.4381076126723167 1.9442608175200369 0.0518640071010279 1.0 0.6542553366165835 51 Q05639,P43034,Q8IY37,Q13618,O60701,P49591,Q08J23,Q14204,Q96C86,Q9Y617,Q00610,Q96F86,Q9NZ01,Q14683,Q96T60,O60231,Q01105,P55011,Q96N66 19 |
| Delayed ability to walk 0.4142464347457534 1.942572239053624 0.0520678638193428 1.0 0.6542553366165835 55 P27635,Q9NYY8,P24928,Q13618,Q7Z6Z7,P38606,Q14204,Q92785,Q15046,Q6ZXV5,O43776,Q14683,Q9Y4A5,Q5H8A4,Q15042,Q01105,P55011,Q7LBC6,Q96N66 19 |
| Decreased circulating level of specific antibody 0.793507684009257 1.9328245720989947 0.0532578122461062 1.0 0.6542553366165835 5 P49327,Q9H0U3,P50851 3 |
| Pulmonic stenosis 0.5178621481121483 1.9326505514510777 0.0532792605456702 1.0 0.6542553366165835 28 Q06124,Q9Y4P3,Q6PGP7,P54886,P21359,P36507,P55263,O95169,Q13618,Q9UQE7,P78347,O75306 12 |
| Lymphoproliferative disorder 0.8539466421330788 1.9326415293418548 0.0532803727305422 1.0 0.6542553366165835 4 Q9H0U3,P50851 2 |
| Recurrent sinusitis 0.8536985258552068 1.9316419052065132 0.0534037198261809 1.0 0.6542553366165835 4 Q9H0U3,P50851 2 |
| Abnormal mean corpuscular volume 0.522600281658777 1.9261760162070147 0.0540823994654349 1.0 0.6542553366165835 21 Q7Z2Z2,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Increased mean corpuscular volume 0.522600281658777 1.9261760162070147 0.0540823994654349 1.0 0.6542553366165835 21 Q7Z2Z2,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Overgrowth 0.791852374365642 1.9257736464680135 0.054132643436193 1.0 0.6542553366165835 5 Q9UPY3 1 |
| Acute phase response 0.5314993163438345 1.9252175047881976 0.0542021530560339 1.0 0.6542553366165835 18 Q969U7,O15143,P53621,P10644,P21359,P14174 6 |
| Macrocytic anemia 0.51091855588595 1.9189813982610409 0.054986688047933 1.0 0.6543649121103037 31 Q7Z2Z2,P42766,P11586,Q07020,P18077,P62899,P61313,P60866,P08708,P22314 10 |
| Oromotor apraxia 0.7895885093156316 1.9161230350795375 0.0553494369019735 1.0 0.6543649121103037 5 Q9BVA1,Q14683 2 |
| Abnormal neutrophil count 0.3987839984322064 1.9134334039010108 0.0556925914733203 1.0 0.6543649121103037 57 Q7Z2Z2,O14617,P49327,P19447,P10644,P40763,P18077,O00203,P62899,P22681,P61313,P05165,P50851,P60866,P08708,Q9NVI1 16 |
| Pure red cell aplasia 0.5206205773173099 1.912811521779886 0.0557721856131738 1.0 0.6543649121103037 19 P60866,P18077,P62899,P61313,Q07020,P08708 6 |
| Freckling 0.6425815484785902 1.9071235881591349 0.0565045853750914 1.0 0.6543649121103037 11 O60934,Q06124,P52701,P10644,P19447,P21359,P11802 7 |
| Attention deficit hyperactivity disorder 0.4066626142298126 1.9035604980972625 0.0569674475495256 1.0 0.6572711740649168 81 P55795,O95319,Q05639,Q8N5F7,P11766,P51610,Q93008,P29401,Q7Z6Z7,P38606,P78347,O60934,Q12830,Q93009,O60488,P49588,P53992,P60866,Q08J23,Q9BZI7,Q9Y4P3,P26196,P46109,P21359,P28482,Q00610,Q9BVA1,P52701,Q14683,Q96ST3,Q96T58,P46821,Q6KC79,P55011,Q7LBC6,Q9UQE7 36 |
| Chronic lung disease 0.6793019342996032 1.8976753903160772 0.0577388563594478 1.0 0.6573211669983643 8 P50851,Q14683 2 |
| Abnormal size of the palpebral fissures 0.3864695448803017 1.8957701967593883 0.0579904384271916 1.0 0.6573211669983643 70 Q9NXE4,P55795,P27635,O95602,P51610,Q86W42,Q93008,P63241,Q7Z6Z7,P38606,P78347,Q9NVI1,Q03164,Q12830,O60701,Q8N201,O60488,P98175,Q8IWS0,P36507,Q9BZK7,Q14839,Q08J23,Q9BZI7,Q9Y4P3,P46109,P28482,P55011,Q13620 29 |
| Aplasia hypoplasia of the phalanges of the thumb 0.6875492150721235 1.893590635871975 0.0582793674111568 1.0 0.6573211669983643 7 Q14683,P21333,A5YKK6,Q9UQE7,Q9NVI1 5 |
| Myelodysplasia 0.4895244633123597 1.892853912147454 0.0583772997062328 1.0 0.6573211669983643 38 P54132,P22314,Q7Z2Z2,Q06124,P42766,Q07020,O75533,O76094,P18077,P21359,P62899,P61313,P60866,P08708,Q9NVI1 15 |
| Normochromic anemia 0.5174569630061782 1.889737957018212 0.0587930149603357 1.0 0.6574761898866222 21 P42766,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Autoimmune antibody positivity 0.6865127313071012 1.8885800442563585 0.0589481230530366 1.0 0.6574761898866222 7 P53621,P61011,P49327,P00813,P22314 5 |
| Abnormality of the pulmonary artery 0.5150984994721465 1.88666483660747 0.0592054200708349 1.0 0.6574761898866222 25 Q12830,P27635,Q06124,Q9Y4P3,Q6PGP7,P26196,P55011,P22681,Q7Z6Z7,P78347 10 |
| Hodgkin lymphoma 0.755562396257695 1.8847712513303356 0.0594607279131074 1.0 0.6586647216708806 6 Q07864,P49327,Q9H0U3 3 |
| Focal non motor seizure 0.6846517509194456 1.8795778007564596 0.0601656410867246 1.0 0.659728010176537 7 Q01105,Q00610,Q14204,Q05639 4 |
| Focal emotional seizure 0.6846517509194456 1.8795778007564596 0.0601656410867246 1.0 0.659728010176537 7 Q01105,Q00610,Q14204,Q05639 4 |
| Neoplasm of the colon 0.501560999282308 1.8792333538507773 0.060212637249557 1.0 0.659728010176537 33 Q07864,P54132,P52701,Q07020,P10644,P18077,P62899,P61313,P60866,P08708 10 |
| Bifid uvula 0.503559374974029 1.8776821365101972 0.0604246618766259 1.0 0.659728010176537 32 Q9NXE4,Q14683,Q9Y617,Q15436,P21333,A6NHR9,Q15392,Q93008,Q13618,Q69YQ0,P62266 11 |
| Large face 0.4418887006953277 1.8756582581195171 0.0607022211499572 1.0 0.659728010176537 49 P27635,Q8N5F7,P21333,O00170,Q7Z6Z7,Q12830,O75369,P53992,P36507,Q9BZK7,Q08J23,Q9BZI7,P26196,P46109,P21359,P28482,Q96ST3,Q14738,P55011 19 |
| Amaurosis fugax 0.6835204723376365 1.8741017311610129 0.0609164047762307 1.0 0.659728010176537 7 Q9ULM3,P52701 2 |
| Cafe au lait spot 0.4929859935749799 1.871798903722763 0.0612344300076135 1.0 0.659728010176537 36 P54132,Q12830,O60934,Q06124,P52701,Q6PGP7,P26196,P10644,Q96ST3,P42345,P21359,P28482,P55011,P22681,P36507,Q15437,Q7Z6Z7,Q9NVI1 18 |
| Recurrent pneumonia 0.5317024169413992 1.8695075642126684 0.0615522322460697 1.0 0.659728010176537 17 O60934,P11586,P40763,O00203,P50851 5 |
| Intellectual disability moderate 0.3882855031529849 1.8687846104623111 0.061652786799939 1.0 0.659728010176537 58 Q05639,P51610,Q15003,Q93008,O60488,P49591,P51532,Q08J23,Q92785,Q12756,Q14204,Q96C86,Q9BZI7,Q15021,Q69YN2,Q00610,Q9H269,Q96F86,Q9NZ01,Q01105,Q13620,P55011,Q96GM5,Q9Y3E5,Q96N66 25 |
| Joint hypermobility 0.3967283264787674 1.8678389449061157 0.061784523240306 1.0 0.659728010176537 77 P21333,Q93008,Q7Z6Z7,P63241,P78347,Q6NW34,Q03164,Q12830,O75369,P53992,Q15436,P40763,P54886,Q8IWS0,P22681,Q08J23,Q9BZI7,Q9Y4P3,P46109,P21359,P28482,Q6ZXV5,Q06124,Q96ST3,Q5H8A4,Q15042,P46821,P55011,Q01105,Q13620,Q7LBC6 31 |
| Abnormality of lower lip 0.374368315488101 1.8602011417886803 0.0628570735858398 1.0 0.6616377271760674 65 P27635,Q05639,Q9NR45,P51610,O00170,Q86W42,Q93008,Q7Z6Z7,P78347,P62266,O60701,P22681,P51532,Q69YQ0,Q92785,Q9BZI7,Q9Y4P3,Q9Y617,Q06124,Q96ST3,Q15042,Q13620 22 |
| High anterior hairline 0.5117020282957505 1.8503933896663831 0.0642568710659352 1.0 0.6722289958803317 19 P29372,Q96ST3,Q5H8A4,Q96T58,Q86W42,Q9BZK7,Q69YQ0,Q6NW34 8 |
| Abnormality of the diaphragm 0.5118428509598278 1.849974172225684 0.0643172722307836 1.0 0.6722289958803317 20 P12004,Q14683,Q96ST3,Q9Y4A5,P08243,P21333,Q5H8A4,P53701,Q7LBC6,Q9UQE7 10 |
| High myopia 0.6773748620938935 1.8443053329703007 0.0651386547363435 1.0 0.6763830471868861 7 P27635,Q7Z2Z2 2 |
| Skin appendage neoplasm 0.8310371203944715 1.8399741438226336 0.0657720334477598 1.0 0.6763830471868861 4 Q9UPY3 1 |
| Upslanted palpebral fissure 0.3800985757333507 1.8399157214110695 0.0657806115229029 1.0 0.6763830471868861 69 O60934,O43776,Q14683,Q96ST3,Q9Y4A5,O00203,P35606,Q00610,Q86W42,Q14839,P42695,Q93008,Q7Z6Z7,Q69YQ0,Q9NVI1 15 |
| Neoplasm of the gastrointestinal tract 0.3868877763357549 1.834474408584566 0.066583603211423 1.0 0.6812204996016601 73 Q07864,P54132,P61313,P08708,O60934,P42766,P18077,P60866,P51532,P11802,Q92785,Q9UPY3,Q6PGP7,P10644,P21359,Q07020,Q15437,P52701,Q9NWH9,P62899,P49327 21 |
| Diffuse cerebellar atrophy 0.7428207670544208 1.8287116481016303 0.0674428165811551 1.0 0.6812204996016601 6 Q12756,P19447,P26639,Q9HA77 4 |
| Abnormal t cell morphology 0.586109144451871 1.8272913771847052 0.0676559710264028 1.0 0.6812204996016601 13 O60934,P54132,O75787,P49327,Q9H0U3,O00203,P17812,P00813 8 |
| Abnormality of the endometrium 0.6649504322460745 1.826889058400388 0.0677164517140314 1.0 0.6812204996016601 8 Q07864,P20585,P52701,Q86W42,Q15437 5 |
| Pointed chin 0.5049073407634972 1.8260047548947809 0.0678495456158634 1.0 0.6812204996016601 27 O60701,Q9Y4P3,O14646,P21333,P46109,Q9HCK8,Q86W42,Q8IY37,Q7LBC6,P78347 10 |
| Male reproductive system neoplasm 0.6270282619745676 1.8244275588263936 0.0680874587890556 1.0 0.6812204996016601 11 O60934,P10644,Q9UPY3,Q8IY37 4 |
| Pleural effusion 0.6455700346882556 1.8218553619402116 0.0684769348988907 1.0 0.6812204996016601 10 Q9UID3,P22681,P14174 3 |
| Persistence of hemoglobin f 0.5075358460989409 1.8211419506853916 0.0685852817936418 1.0 0.6812204996016601 19 P42766,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Abnormal circulating ige level 0.8263102314456763 1.8207638967744593 0.0686427545304497 1.0 0.6812204996016601 4 P49327,P40763 2 |
| Abnormal b cell morphology 0.663021564690674 1.8173411623443256 0.0691648908870663 1.0 0.6812204996016601 8 O60934,P49327,P50851 3 |
| Limited elbow extension 0.6708518641512358 1.8125918645433357 0.0698947935126828 1.0 0.6853701385945629 7 P28482,Q6KC79,O75369,P21333 4 |
| Narrow nose 0.7369091890227617 1.8026072143049152 0.0714499232211474 1.0 0.6965938412258813 6 Q07864,Q9Y4A5,Q14683 3 |
| Spastic hyperactive bladder 0.7363956889416814 1.80033690274009 0.0718074573042817 1.0 0.6979621998810054 6 O75165 1 |
| Weight loss 0.3881483806094533 1.79235821628565 0.0730756034039719 1.0 0.7003262226866571 57 O60934,O75165,P52701,P49327,P60866,P19447,P10644,P40763,P50747,P21359,Q06136,P22681,Q14203,Q9NVI1,Q04637 15 |
| Severe postnatal growth retardation 0.6486715230590778 1.790568651323392 0.0733625414016025 1.0 0.7003262226866571 9 P54132,P27635,Q14683,Q92979,Q9UQE7 5 |
| Deviation of the hand or of fingers of the hand 0.3971100075050116 1.7879551253173356 0.073783248040121 1.0 0.7007297025953224 81 P54132,P27635,P78527,P21333,P43034,Q9NVI1,P78347,Q03164,Q12830,Q93009,O75369,Q8TD16,Q92979,P22681,Q69YQ0,P15924,Q08J23,Q9Y4P3,P46109,P28482,Q9NW13,Q06124,Q14683,Q96ST3,Q9Y4A5,Q96T58,Q15042,P46821,Q13620,Q9UQE7,Q9Y3E5 31 |
| Thin upper lip vermilion 0.4118431742236431 1.7829623512747692 0.0745924321120277 1.0 0.7033233291735953 90 Q9NXE4,P27635,P78527,P51610,P35606,Q93008,P63241,Q7Z6Z7,Q03164,Q12830,O60488,Q15436,O00203,Q9BZK7,P42695,P51532,Q69YQ0,Q92785,Q96C86,Q9BZI7,P29372,P46109,P28482,Q92974,Q00610,Q14683,P42345,Q9Y4A5,Q14738,Q5H8A4,Q96T58,Q9UID3,P35573,Q96GM5,Q7LBC6,Q9UQE7,Q9Y3E5 37 |
| Renal agenesis 0.454951401551145 1.7822243734213763 0.074712649655551 1.0 0.7033233291735953 44 Q15392,P10644,Q07020,O95169,P54886,P18077,P35606,P62899,P61313,Q86W42,P42695,P60866,P08708,O75306 14 |
| Low posterior hairline 0.4948426101101917 1.781122895927694 0.0748923761141626 1.0 0.7033233291735953 30 Q06124,Q14683,Q5H8A4,Q9NR45,P21359,P28482,Q15042,P22681,P36507,Q9UID3,Q96GM5,Q7Z6Z7 12 |
| Anemia of inadequate production 0.4160358289323385 1.7749564926669954 0.0759050712443314 1.0 0.7103195515462806 52 P22314,Q7Z2Z2,P42766,P11586,P49327,Q07020,O75533,Q9P2J5,Q15046,P18077,P62899,Q9Y4L1,P61313,Q15437,P60866,P08708,Q9NVI1 17 |
| Urinary tract neoplasm 0.4968175648397002 1.7741970854465483 0.0760305561483603 1.0 0.7103195515462806 28 Q9UPY3,P52701,P21359,Q8IY37,Q15437 5 |
| Macrodontia 0.5769024857262472 1.7736740067997658 0.0761170883692097 1.0 0.7103195515462806 13 P55011,Q7Z6Z7,Q8IY37 3 |
| Lymphopenia 0.5007723749183483 1.770911486761686 0.0765754218932013 1.0 0.7116067448736407 21 O60934,Q6PGP7,P11586,Q9H0U3,P50851,P49327,P00813 7 |
| Plagiocephaly 0.4971968860411154 1.7682731834044831 0.0770152447603331 1.0 0.7122424852742988 27 Q93009,O60701,Q14204,P55265,P24928,P28482,Q01105,Q9UQE7,Q8IY37,P63241,Q6NW34 11 |
| Mitral valve prolapse 0.5240312763157242 1.7678851916607492 0.0770800988981283 1.0 0.7122424852742988 16 P55795,Q9Y4P3,P21333,P21359,P28482,P53701,P78347 7 |
| Abdominal obesity 0.754996144545206 1.7676175524078794 0.0771248616427144 1.0 0.7122424852742988 5 P54132,Q8N5F7,O00170 3 |
| Broad foot 0.6513741508630282 1.759520449726641 0.0784891499487474 1.0 0.7139954659717368 8 Q8IWS0,Q9Y617,P27635,O00170 4 |
| Mild global developmental delay 0.5525494815015072 1.7590101103363769 0.078575791324613 1.0 0.7139954659717368 14 P46821,P33991,O00203 3 |
| Relative macrocephaly 0.4967457620520545 1.7576027070161888 0.0788151324351689 1.0 0.7139954659717368 26 Q07864,Q93009,Q12830,Q99575,P26196,P21359,P55011,Q13620,Q15392,Q93008,Q7Z6Z7 11 |
| Localized hirsutism 0.8099322251722567 1.7539755259025864 0.0794347008628235 1.0 0.7139954659717368 4 P27635 1 |
| Focal impaired awareness seizure 0.5215734870536934 1.7517141518072603 0.0798229722275098 1.0 0.7139954659717368 16 Q12756,Q05639,P42345,Q01105,P43034,Q00610,Q9H270,Q14204 8 |
| Leukemia 0.4381475927398675 1.7463241637073492 0.0807546393524809 1.0 0.7145659521986462 47 P54132,Q7Z2Z2,O60832,P61011,P61313,P08708,O60934,P42766,P18077,P22681,P60866,Q08J23,P55265,P21359,Q07020,Q06124,O75533,P62899,P35658 19 |
| Clubbing 0.5271337032985102 1.7429685026316926 0.081339116839938 1.0 0.7183068727693929 15 O75369,P19447,P26639,Q86Y56,Q9UID3,P50851,P15924,Q9NVI1 8 |
| Neoplasm of the rectum 0.592096726434416 1.741971254432291 0.0815134743380268 1.0 0.7184183591458632 12 Q07864,P20585,Q9UPY3,P52701,P28340,P60866,Q15437 7 |
| Ketonuria 0.6381437542240811 1.737255311776534 0.08234211569455 1.0 0.7235412611244234 9 P53985 1 |
| Female reproductive system neoplasm 0.5191038495009073 1.7354477660603176 0.0826615257873493 1.0 0.7235412611244234 16 Q07864,P20585,P52701,P10644,P60866,Q15437 6 |
| Abnormality of the helix 0.4811845049830182 1.7349691107121048 0.0827462765986508 1.0 0.7235412611244234 34 O43776,Q14683,P21359,P46821,Q9UID3,P22681,P36507,Q69YQ0,P62266 9 |
| Hypomimic face 0.6373309617787429 1.7331297665922598 0.0830726067270828 1.0 0.724967620985662 9 P12235,O75165,Q6Y7W6,Q04637 4 |
| Neoplasm of the male external genitalia 0.6457761279605183 1.731631775914915 0.0833391448295008 1.0 0.7253609853905794 8 P10644,Q9UPY3,Q8IY37 3 |
| Abnormal circulating progesterone level 0.720203957109745 1.7285266217069986 0.0838938524075811 1.0 0.7253609853905794 6 P49770 1 |
| Decreased circulating progesterone 0.720203957109745 1.7285266217069986 0.0838938524075811 1.0 0.7253609853905794 6 P49770 1 |
| Keratitis 0.6272784051552951 1.7275910448050094 0.0840615694688819 1.0 0.7253609853905794 10 P19447,Q15149,P49327,P50747 4 |
| Congenital diaphragmatic hernia 0.5025202351399213 1.7265803108930458 0.0842430644958864 1.0 0.7253609853905794 18 P12004,Q14683,Q96ST3,Q9Y4A5,Q5H8A4,P21333,P53701,Q7LBC6,Q9UQE7 9 |
| Skin plaque 0.7451576439883396 1.7250406220154402 0.0845201520697029 1.0 0.7253609853905794 5 Q06136 1 |
| Neoplasm by histology 0.396646552971637 1.720448153581431 0.0853510103237038 1.0 0.7253609853905794 84 Q07864,P19447,P21333,P61313,Q8IY37,P08708,O60934,P18077,P60866,Q92804,P51532,P11802,Q92785,Q9UPY3,Q6PGP7,P10644,P21359,Q15392,Q07020,Q15437,P52701,P62899,P49327 23 |
| Dilation of lateral ventricles 0.4934570750640638 1.7195800213923904 0.0855088103338745 1.0 0.7253609853905794 20 Q12756,O75787,P18583,Q05639,Q9Y617,Q15042,Q01105,Q9UID3,Q969M3,Q00610,Q9BVA1,Q14204 12 |
| Slender finger 0.4833391982510989 1.7189404494714116 0.0856252158450692 1.0 0.7253609853905794 32 P55795,Q12830,Q14807,Q9BZI7,O43776,Q96ST3,Q8N5F7,P53992,Q5H8A4,P21333,P46109,Q9Y4L1,Q15334,P28482,Q93008 15 |
| Thick vermilion border 0.3720382365281361 1.7182681889415805 0.0857477088884612 1.0 0.7253609853905794 70 P55795,P21333,P51610,Q9NR45,O00170,Q86W42,Q93008,Q7Z6Z7,P78347,P62266,O60701,P22681,P51532,Q08J23,Q92785,Q9BZI7,Q9Y4P3,Q9Y617,P21359,P33992,Q06124,Q96ST3,Q01105,Q9UID3,Q13620 25 |
| Anorectal anomaly 0.3874235066856847 1.7142262330463058 0.0864871848042474 1.0 0.7253609853905794 56 Q07864,P20585,O60832,P53701,Q86W42,Q93008,P78347,Q9NVI1,O60934,Q13428,P53992,P31040,Q14839,P60866,Q69YQ0,Q08J23,Q9UPY3,Q9Y4P3,P26196,P29372,P28340,Q15437,P52701,Q96ST3,Q96T58 25 |
| Decreased fertility in males 0.6336051042581072 1.7142011783632518 0.0864917845686774 1.0 0.7253609853905794 9 P54132,Q86Y56,O00170,Q8IY37,Q9NVI1 5 |
| Acute lymphoblastic leukemia 0.6246751213764682 1.7141177108767636 0.0865071097071847 1.0 0.7253609853905794 10 O60934,P35658,P54132,Q08J23 4 |
| Myopia 0.3925734465179325 1.7122036434233467 0.0868591462564578 1.0 0.7253609853905794 82 P26640,P27635,Q7Z2Z2,P19447,Q86W42,Q93008,Q7Z6Z7,P38606,Q9NVI1,P78347,Q93009,Q12830,O60488,P54886,P98175,P36507,P51532,Q08J23,Q92785,Q9Y4P3,P26639,Q15437,Q06124,P18583,P18074,Q14683,Q14738,P12235,Q96GM5,Q7Z392,Q9UQE7 31 |
| Abnormality of neutrophils 0.3768630195356269 1.7115895385542317 0.0869723375690274 1.0 0.7253609853905794 73 Q7Z2Z2,O14617,P06744,P19447,P61313,P08708,Q9NVI1,P42766,P40763,P18077,O00203,P22681,P05165,P50851,P60866,P15924,Q08J23,P10644,P26639,P35579,Q07020,O75533,Q9NRZ9,P62899,P49327,P18206 26 |
| Panhypogammaglobulinemia 0.7415684681024006 1.7094729482354905 0.087363378474552 1.0 0.7253609853905794 5 P19447,P26639,Q6PGP7,P18074 4 |
| Lipoma 0.7388511397797117 1.6976746174721613 0.0895691909789548 1.0 0.7331896758133124 5 P27635 1 |
| Abnormal localization of kidney 0.3974145918055982 1.695632280950311 0.0899555404386007 1.0 0.7331896758133124 54 P51571,P61313,Q86W42,Q93008,P08708,P78347,Q9NVI1,P42766,P18077,P98175,P60866,P51532,Q69YQ0,Q92785,Q9Y4P3,P26196,Q07020,Q06124,P18583,Q15042,P62899,Q6KC79,Q96GM5 23 |
| Visual hallucinations 0.7375240175775706 1.6919086307431708 0.0906633961342038 1.0 0.7362464453896406 5 O75165 1 |
| Lewy bodies 0.7375240175775706 1.6919086307431708 0.0906633961342038 1.0 0.7362464453896406 5 O75165 1 |
| Genital neoplasm 0.4843907915967418 1.6894444622387703 0.0911342864698816 1.0 0.7376781904991696 29 Q07864,O60934,Q9UPY3,P52701,P10644,Q8IY37,P60866,Q15437 8 |
| Abnormality of the metopic suture 0.561971518394243 1.6862687773089091 0.0917440419678439 1.0 0.7376781904991696 13 P18583,P40763,P46821,P28482,Q96GM5 5 |
| Flared metaphysis 0.7350252219051107 1.681045397866971 0.0927540969163898 1.0 0.7376781904991696 5 Q9NR45,P21333 2 |
| Dysplastic corpus callosum 0.6265033367746494 1.678046213939031 0.0933380775258938 1.0 0.7376781904991696 9 Q5JPH6,Q86W42 2 |
| Large intestinal polyposis 0.6429343608825848 1.6758967902699304 0.0937584105497708 1.0 0.7376781904991696 7 Q9UPY3,Q15437 2 |
| Colorectal polyposis 0.6429343608825848 1.6758967902699304 0.0937584105497708 1.0 0.7376781904991696 7 Q9UPY3,Q15437 2 |
| Nonprogressive 0.7081991523617913 1.6750177261448156 0.0939307537848064 1.0 0.7376781904991696 6 Q9ULM3 1 |
| Abnormality of the pulmonary veins 0.6423834757593424 1.6731845062347963 0.0942909795064519 1.0 0.7376781904991696 7 Q86Y56,Q15392 2 |
| Bilateral polymicrogyria 0.7074884381551044 1.671843045216228 0.0945552761781063 1.0 0.7376781904991696 6 Q01105,Q00610,Q14204,Q05639 4 |
| Recurrent viral infections 0.5980496423840602 1.6688566499504314 0.0951457925426249 1.0 0.7376781904991696 11 P54132,Q7Z2Z2,Q9H0U3,P33991,P00813 5 |
| Multiple lentigines 0.7059366569052958 1.664908829706978 0.095930946353959 1.0 0.7390548200677463 6 P10644,P36507,P28482 3 |
| Juvenile myelomonocytic leukemia 0.7877458460158435 1.6629713945430775 0.096318161655277 1.0 0.7390548200677463 4 P22681 1 |
| Myeloid leukemia 0.7877458460158433 1.6629713945430753 0.0963181616552775 1.0 0.7390548200677463 4 P22681 1 |
| Abnormal dermatoglyphics 0.3577564784646179 1.6628955265189882 0.0963333500268404 1.0 0.7390548200677463 60 Q9NXE4,P27635,Q06124,Q9Y4P3,Q14683,Q96ST3,P21333,P98175,Q15042,P46821,O00170,P22681,P36507,Q9UID3,Q69YQ0,P78347,P62266 17 |
| Thick upper lip vermilion 0.7303716967352737 1.6607919608563255 0.0967552362972887 1.0 0.7394196835156495 5 Q9UID3,Q86W42 2 |
| Abnormal oral mucosa morphology 0.4246314830988007 1.6601877572654635 0.0968766867763755 1.0 0.7394196835156495 48 Q7Z2Z2,P49327,Q9Y4P3,P49257,P78527,P40763,O00203,Q9Y4L1,P46821,Q15149,Q15392,Q93008,P15924 13 |
| Neoplasm of fatty tissue 0.6311574663274818 1.6585167294340233 0.0972132136814811 1.0 0.7394196835156495 8 P27635 1 |
| Abnormal sacrum morphology 0.484081000739224 1.654360955112579 0.0980541947356454 1.0 0.7423947094264365 24 P43034,P53701,P27635,Q9Y4P3 4 |
| Developmental glaucoma 0.4843990718152446 1.6543174077459135 0.0980630378473583 1.0 0.7423947094264365 23 Q07020,P18077,P21333,P62899,P61313,P60866,P08708 7 |
| Abnormal lymphocyte morphology 0.4762389979445722 1.6493130126198716 0.0990835251473098 1.0 0.7464841156440432 31 O60934,O15143,P11586,Q6PGP7,Q9H0U3,Q9NRZ9,O00203,P33991,P50851,P49327,P00813 11 |
| Abnormality of the musculature of the hand 0.4789928635851959 1.648034934304104 0.0993455026786689 1.0 0.7464841156440432 29 P60866,Q07020,Q9Y6X9,P21333,P18077,P62899,P61313,Q14203,Q7Z392,P08708 10 |
| Abnormal number of erythroid precursors 0.483088199173503 1.6437539388505773 0.1002270393026476 1.0 0.7464841156440432 22 P42766,Q07020,P18077,P62899,P61313,P60866,P08708 7 |
| Dry skin 0.4821452627605879 1.6437195150404011 0.1002341529984693 1.0 0.7464841156440432 25 Q6PGP7,P18074,P19447,P26639,P55265,Q96T58,P28482,Q06136,P36507,P00813,Q08J23,P11802 12 |
| Aplasia hypoplasia of the thumb 0.4598317329380557 1.6432720499125384 0.1003266584960589 1.0 0.7464841156440432 38 P42766,Q14683,Q07020,Q96ST3,Q5H8A4,P21333,P18077,P62899,P61313,P60866,Q13618,P08708,Q08J23,Q9NVI1 14 |
| Semilobar holoprosencephaly 0.7804519204710073 1.632930375311224 0.1024836408081624 1.0 0.7612580810532733 4 Q14683 1 |
| Vascular dilatation 0.4165258753457467 1.6261762777631572 0.1039121610845503 1.0 0.7680163386648465 49 P27635,Q8N5F7,P21333,Q7Z6Z7,P78347,Q12830,O75369,P40763,P54886,Q9NSD9,Q9Y4P3,P26196,P10644,P46109,P21359,P28482,Q6ZXV5,Q06124,P46821,P55011 20 |
| Abnormal c reactive protein level 0.7772904878010471 1.6198920001471682 0.1052554786186936 1.0 0.7760017530221099 4 P53621,P14174 2 |
| Carcinoma 0.7200154771762488 1.6156162239516425 0.1061773139671755 1.0 0.7780361655148664 5 Q07864,P28340,P51532 3 |
| Metaphyseal irregularity 0.6224717851197772 1.6148901361642911 0.1063344887089874 1.0 0.7780361655148664 8 Q14807,Q7Z2Z2,Q9NR45 3 |
| Tube feeding 0.3784709711022734 1.6137969775381338 0.1065714703737674 1.0 0.7780361655148664 56 O60701,Q96C86,Q9NZ01,Q05639,Q14683,Q96N66,Q9Y617,P49591,Q01105,P55011,Q00610,O15121,Q9HA77,Q96F86,P42704,Q14204 16 |
| B lymphocytopenia 0.6943824612328083 1.6131700122865251 0.1067075765513227 1.0 0.7780361655148664 6 O60934,P50851 2 |
| Keratoconjunctivitis 0.6135928762115254 1.6120777183377164 0.1069450287098512 1.0 0.7780361655148664 9 P18074,P19447,P26639,P50747,P49327,P06132 6 |
| Small hand 0.4777590713118425 1.6111636262315656 0.1071440634625728 1.0 0.7780361655148664 25 Q93009,Q12830,P18583,Q14683,Q96ST3,Q13620,Q96GM5,Q9UQE7,Q93008,Q7Z6Z7,Q69YQ0,Q08J23,Q14204 13 |
| Abnormal proportion of cd4 positive t cells 0.6938500033367123 1.610781238513938 0.1072274117139442 1.0 0.7780361655148664 6 P54132,P49327,Q9H0U3,O75787 4 |
| Hypoplastic facial bones 0.5281877354230037 1.609076285161201 0.1075996620451524 1.0 0.7780361655148664 14 A5YKK6,P78347,P36507,Q9Y4P3 4 |
| Decreased fertility in females 0.6290816138527096 1.60753093084525 0.1079379498582637 1.0 0.7780361655148664 7 P54132,Q8IY37,Q86Y56 3 |
| Intestinal polyp 0.4995692677974704 1.6062179546463564 0.1082260297289576 1.0 0.7780361655148664 16 Q9UPY3,P52701,Q15437 3 |
| Upper extremity joint dislocation 0.527702151858221 1.6060739759004885 0.1082576570680713 1.0 0.7780361655148664 14 Q14807,O75369,Q14683,P10644,P21333,P46821,Q9UQE7,Q6ZXV5 8 |
| Renal cell carcinoma 0.4845286793531824 1.6020296031875774 0.1091490634214886 1.0 0.7780361655148664 18 P21359,Q9UPY3,Q15437 3 |
| Melanocytic nevus 0.5855752042551751 1.6013518439805536 0.1092990122605939 1.0 0.7780361655148664 11 Q06124,P10644,P19447,P22681,Q9NW13,Q15437 6 |
| Abnormal shoulder morphology 0.477103670716252 1.600942539658603 0.1093896464434536 1.0 0.7780361655148664 21 Q12830,Q9Y4P3,P21333,P46821,Q13620,P55011,Q7Z6Z7,Q6ZXV5,P78347 9 |
| Abnormal neural tube morphology 0.4663711695631707 1.599361731089244 0.1097402503551403 1.0 0.7780361655148664 33 Q14807,Q14692,O75369,Q06124,Q9Y4P3,P11586,Q14683,Q96ST3,Q9Y617,P21333,P14868,P21359,Q15149,Q9NVI1,Q08J23,P78347 16 |
| Abnormal pleura morphology 0.4984173371501528 1.598569052009999 0.1099163908555147 1.0 0.7780361655148664 16 P22681,Q9UPY3,Q9UID3,P14174 4 |
| Abnormal 5th finger morphology 0.37457380271327 1.5976246069018738 0.1101265467341987 1.0 0.7780361655148664 77 P54132,P27635,P21333,P43034,P78347,Q9NVI1,Q03164,Q12830,Q93009,O75369,P22681,P51532,Q69YQ0,P15924,Q08J23,Q92785,Q9Y4P3,P46109,P28482,Q06124,Q14683,Q9Y4A5,P46821,Q13620,Q96GM5,Q9UQE7 26 |
| Pes planus 0.3520911663038055 1.5935239566595665 0.111042698397175 1.0 0.7780361655148664 60 P55795,P21333,P51610,Q9HCK8,Q93008,P63241,P78347,Q9NVI1,Q12830,O75369,O60488,Q15436,P49591,Q15334,Q9BZK7,Q9BZI7,Q9Y4P3,P46109,P28482,O75787,P42345,Q5H8A4,Q13620 23 |
| Angiofibromas 0.7700557703781266 1.5900163337333608 0.1118311233258297 1.0 0.7780361655148664 4 Q15437 1 |
| Adenoma sebaceum 0.7700557703781266 1.5900163337333608 0.1118311233258297 1.0 0.7780361655148664 4 Q15437 1 |
| Radioulnar synostosis 0.496861111505933 1.5882311280286665 0.1122340846800753 1.0 0.7780361655148664 16 Q06124,Q9Y4P3,Q14683,P22681,P78347 5 |
| Prolonged partial thromboplastin time 0.7694093749106157 1.5873445393765695 0.1124346329002841 1.0 0.7780361655148664 4 P49257 1 |
| Displacement of the urethral meatus 0.4080678771120385 1.5842590174631903 0.1131347878783726 1.0 0.7780361655148664 98 Q07864,P27635,P21333,P53701,P61313,Q86W42,Q8IY37,Q93008,P08708,Q7Z6Z7,Q9NVI1,P42766,P18077,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q6PGP7,P29372,P10644,Q15046,P53597,Q07020,P22314,Q06124,Q14683,Q96ST3,Q5H8A4,P62899,A6NHR9,Q13620,Q96GM5,Q7LBC6,Q9UQE7 35 |
| Narrow palpebral fissure 0.5640022860380915 1.5838740412199774 0.1132223857672807 1.0 0.7780361655148664 12 Q03164,P27635,Q8N201,P26196,Q96T58,Q8IWS0,Q9BZK7 7 |
| Abnormally folded helix 0.523802585571051 1.5819460280081958 0.1136618920971437 1.0 0.7780361655148664 14 O43776,P62266,Q14683 3 |
| Stomach cancer 0.6159181797271249 1.5818875112091986 0.1136752524581603 1.0 0.7780361655148664 8 P54132,P60866,P10644 3 |
| Syndactyly 0.34633550767281 1.5803845336163054 0.1140188313339827 1.0 0.7788772100739088 62 P54132,P27635,P21333,P51610,Q93008,Q9NVI1,O75369,P98175,Q69YQ0,P15924,Q08J23,Q9BZI7,P46109,P28482,O43776,Q14692,Q14683,Q96ST3,P55011,Q13620,Q15149,Q9UQE7 22 |
| Webbed neck 0.4639047221051396 1.579631841072921 0.1141912029289256 1.0 0.7788772100739088 33 Q06124,P42766,Q07020,P18077,P21359,P28482,P62899,P22681,P61313,P36507,P60866,P08708 12 |
| Abnormal t cell subset distribution 0.5982683947901167 1.5767129129604225 0.1148615977968248 1.0 0.7788772100739088 10 P54132,O75787,P49327,Q9H0U3,O00203,P17812 6 |
| Facial asymmetry 0.4706974561358077 1.5757250471646025 0.1150891824851494 1.0 0.7788772100739088 28 Q03164,P18583,Q14683,Q96ST3,P21333,P46109,P21359,P28482,Q01105,Q8IY37,Q93008,Q9UPN3,Q9UQE7,Q9NVI1 14 |
| Decreased circulating total igm 0.6225010420066932 1.574942067230268 0.1152698173813466 1.0 0.7788772100739088 7 P49327,P00813,P50851 3 |
| Inflammation of the large intestine 0.6061914023465672 1.57412727874477 0.1154580272236098 1.0 0.7788772100739088 9 P50851,P49327,O15143 3 |
| Aplasia hypoplasia involving the sinuses 0.7658112231022238 1.5724647499626525 0.1158428079875562 1.0 0.7788772100739088 4 A6NHR9,P21333 2 |
| Thickened helices 0.6132633302629807 1.5684984453073203 0.1167648525061606 1.0 0.7798738272810392 8 P36507,P22681,Q06124 3 |
| Soft tissue sarcoma 0.4714104801620739 1.5683073498075617 0.1168094214872981 1.0 0.7798738272810392 26 O60934,Q9UPY3,P52701,P21333,P21359,Q15392,P49327,Q15437 8 |
| Vasculitis 0.6841160459512855 1.5670458632609394 0.1171039718136994 1.0 0.7798738272810392 6 O15143 1 |
| Underdeveloped nasal alae 0.4864635981403925 1.564499927565199 0.1177002099717092 1.0 0.7815184470996555 17 P55795,Q96ST3,P46109,P28482,Q15149,P63241,Q08J23 7 |
| Low anterior hairline 0.4056129332020806 1.5644888868862443 0.1177028007901102 1.0 0.7815184470996555 50 Q9NXE4,O60934,Q13428,P42766,Q14683,Q07020,Q9NR45,P18077,P62899,P51532,P42704,P61313,Q96GM5,P60866,P08708,Q08J23,Q92785 17 |
| Papule 0.4992464887518261 1.5621295558775687 0.1182574714368831 1.0 0.7836508153861018 15 P21359,P49327,Q15149,Q15437 4 |
| Patellar dislocation 0.4991687762533433 1.561623164681959 0.1183767890869145 1.0 0.7836508153861018 15 O75369,Q9Y4P3,P21333,P46821,Q6ZXV5,P78347 6 |
| Biconcave vertebral bodies 0.7075016145903579 1.5608512986649985 0.1185588404419974 1.0 0.7836880494692751 5 O00170,Q9NR45 2 |
| Narrow mouth 0.3791323702593305 1.5576374965141155 0.1193192047746358 1.0 0.7855265518256633 55 P27635,P21333,P43034,Q7Z6Z7,Q12830,Q13428,P53992,P54886,Q96C86,Q6PGP7,P26196,P28340,Q15046,P46109,P28482,Q15392,P33992,P18583,Q96ST3,Q15042,P55011 21 |
| Gastritis 0.7620704187042812 1.5569822748322493 0.1194746938161899 1.0 0.7855265518256633 4 P49327,P50851 2 |
| Carpal bone hypoplasia 0.7619995922647025 1.556689015303233 0.1195443379185385 1.0 0.7855265518256633 4 Q9NR45 1 |
| Aplasia hypoplasia involving the carpal bones 0.7619995922647025 1.556689015303233 0.1195443379185385 1.0 0.7855265518256633 4 Q9NR45 1 |
| Broad forehead 0.4640354300833165 1.5536765446331064 0.1202615906663551 1.0 0.7867481380558901 31 Q07864,O43776,P27635,Q9Y4P3,Q6PGP7,P54886,P21333,P21359,O00170,Q86W42 10 |
| Abnormal pancreas size 0.6807424301388734 1.55185992690672 0.1206957431874253 1.0 0.78779204027438 6 A5YKK6,Q7Z2Z2,P40763,Q9Y3E5 4 |
| Joint hyperflexibility 0.4621162825897837 1.551155810170697 0.1208643491658199 1.0 0.78779204027438 32 O75369,Q9BZI7,Q9Y4P3,Q06124,P53992,Q15436,P40763,P54886,P21333,P46109,P28482,Q13620,P22681,Q93008,Q08J23,P78347 16 |
| Abnormal eosinophil morphology 0.6804543643748917 1.5505625899541835 0.121006543152522 1.0 0.78779204027438 6 P49327,P40763,P00813 3 |
| Desquamation of skin soon after birth 0.7602171066558483 1.5493070977195378 0.1213079143511202 1.0 0.78779204027438 4 P50747 1 |
| Large earlobe 0.678912134225387 1.543615289466204 0.1226815588236629 1.0 0.7884718338110249 6 Q8IWS0,O60701,Q15392 3 |
| Profound hearing impairment 0.7582779418251493 1.5412731491265736 0.1232503209795967 1.0 0.7884718338110249 4 P55011 1 |
| Esophagitis 0.7027879203550922 1.540175954684537 0.1235174693870944 1.0 0.7884718338110249 5 Q8NBU5 1 |
| Short phalanx of the thumb 0.6778592231668672 1.5388706079481995 0.1238358879524605 1.0 0.7884718338110249 6 Q9NVI1,Q9UQE7,P21333,Q14683 4 |
| Joint contractures involving the joints of the feet 0.6150022502724563 1.5377242762021144 0.1241160453415539 1.0 0.7884718338110249 7 Q8IWS0,P63241,P15924,P21333 4 |
| Abnormal hair pattern 0.4086661126053501 1.536028777836294 0.1245313224707562 1.0 0.7884718338110249 101 Q9NXE4,P54132,Q9NR45,P21333,P61313,Q86W42,P08708,Q7Z6Z7,Q6NW34,O60934,Q13428,P42766,P18077,P98175,P22681,P36507,P60866,P51532,Q69YQ0,Q08J23,Q92785,P29372,P21359,P28482,Q07020,Q06124,Q14683,Q96ST3,Q5H8A4,P62899,P55011,Q9UID3,Q15042,Q13620,Q96GM5,P42704 36 |
| Abnormality of the humeroradial joint 0.6771274108019505 1.5355721111005078 0.1246433585592465 1.0 0.7884718338110249 6 P10644,Q14807,P21333 3 |
| Branchial anomaly 0.6065587974920965 1.5346376064097609 0.1248728697705812 1.0 0.7884718338110249 8 P27635,Q13428,P46109 3 |
| Hamartoma of the eye 0.6058354354317871 1.5309803285103816 0.1257742544741174 1.0 0.7884718338110249 8 P21359,Q15437 2 |
| Acute leukemia 0.4437817671433026 1.530878887049206 0.1257993281320644 1.0 0.7884718338110249 39 P54132,O60934,Q7Z2Z2,P42766,Q07020,O75533,P18077,P62899,P61313,P60866,P08708,P35658,Q08J23 13 |
| Akinesia 0.597702674124301 1.53049432878027 0.1258944161751718 1.0 0.7884718338110249 9 Q14203,O75165,Q04637 3 |
| Agenesis of corpus callosum 0.356755937660841 1.5295953072012494 0.1261169317631609 1.0 0.7884718338110249 70 P19447,P24928,P35606,A5YKK6,P53701,Q9NVI1,P42695,P51532,Q69YQ0,Q92785,P29372,P26639,Q69YN2,Q15392,Q9BVA1,Q14683,Q5H8A4,O60231,Q15042,P55011 20 |
| Small face 0.4623641389147929 1.5295708298942676 0.126122994388365 1.0 0.7884718338110249 30 P54132,Q12830,Q13428,Q9BZI7,Q9Y4P3,Q96ST3,P21333,Q9Y4L1,P55011,P36507,Q7Z6Z7,Q08J23,P78347 13 |
| Abnormality of fibula morphology 0.5722682010661069 1.529036972359716 0.1262552785656052 1.0 0.7884718338110249 11 Q9NWH9,Q9NR45 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.6752857988178345 1.5272686687497246 0.1266942170398195 1.0 0.7884718338110249 6 Q99575,Q9NR45 2 |
| Laryngotracheomalacia 0.6996802281861401 1.526531829917119 0.1268774696674524 1.0 0.7884718338110249 5 Q14807,Q9Y4A5 2 |
| Broad long bones 0.4667339451674641 1.5264593794984898 0.1268954993003972 1.0 0.7884718338110249 24 Q12830,Q14807,O75369,Q96T60,P21333,P55011,Q93008,Q7Z6Z7,Q08J23,Q6NW34 10 |
| Abnormality of the urethra 0.4148392836035453 1.5192017903186064 0.1287117108251907 1.0 0.7898634330280895 106 Q07864,P27635,P21333,P53701,P61313,Q86W42,Q8IY37,Q93008,Q7Z6Z7,P08708,Q9NVI1,P78347,P42766,P18077,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q9Y4P3,Q6PGP7,P29372,P10644,Q15046,P53597,Q07020,P22314,Q06124,Q14683,Q96ST3,Q5H8A4,P62899,A6NHR9,Q13620,Q15149,Q96GM5,Q7LBC6 37 |
| Thrombocytosis 0.4641480007610479 1.51907348026606 0.1287440011838194 1.0 0.7898634330280895 27 P42766,P11586,Q6PGP7,Q07020,P18077,P62899,P61313,P60866,P08708 9 |
| Neoplasm of the pancreas 0.4645556662307579 1.5165047166518806 0.129391778578265 1.0 0.7898634330280895 19 O60934,P52701,P10644,P60866,P11802 5 |
| Epistaxis 0.5515874515569936 1.5135355671372672 0.130143673768875 1.0 0.7898634330280895 12 P49257,P40763,P35579 3 |
| Striae distensae 0.6023727683239286 1.5134629848710617 0.1301620965728414 1.0 0.7898634330280895 8 Q15334,P10644,Q13620,O00170 4 |
| Abnormal erythrocyte sedimentation rate 0.6961616182166892 1.5110715568988675 0.1307702205367178 1.0 0.7913914436295649 5 P53621,P14174,O15143 3 |
| Bronchitis 0.6715336889796575 1.510339298663357 0.1309568689051015 1.0 0.7914427369747766 6 O60934,Q9H0U3,Q86Y56 3 |
| Colitis 0.6091488503600314 1.5086163632684684 0.1313968500548514 1.0 0.7930228368799596 7 P49327,P50851 2 |
| Short foot 0.4642080511287765 1.506549822495321 0.1319260873197381 1.0 0.7951366076991541 22 Q93009,P18583,Q14683,Q9Y4A5,Q96T58,Q13620,Q9UQE7,Q9BZK7,Q93008,Q7Z6Z7,Q08J23 11 |
| Sparse hair 0.347457163845524 1.5031784873265188 0.1327930234627783 1.0 0.7971170408400828 66 P54132,P19447,P21333,Q8IY37,P63241,P38606,Q6NW34,Q13428,Q99575,Q15436,P54886,P22681,P36507,P51532,P15924,Q08J23,Q92785,Q6PGP7,P21359,P49327 20 |
| Abnormality of malar bones 0.3733224216560736 1.4936412274207724 0.1352694176340814 1.0 0.8058321892121107 55 Q07864,P54132,P21333,P38606,O60934,Q13428,O75369,O60488,P53992,Q15436,Q9BZK7,P10644,P46109,P21359,P28482,Q14807,Q15042,P35573,P42704 19 |
| Pectus excavatum 0.3589738685716643 1.491744389184067 0.13576616750152 1.0 0.8058321892121107 73 Q8N5F7,P51659,P21333,P24928,Q7Z6Z7,P78347,Q6NW34,Q03164,Q8N201,P54886,P98175,P22681,P36507,Q9NSD9,Q69YQ0,Q08J23,Q9BZI7,Q9Y4P3,P21359,Q15437,O43776,Q06124,Q14683,Q9NWH9,Q9UQE7 25 |
| Asthma 0.475702198642088 1.4912448785743342 0.1358972149391821 1.0 0.8058321892121107 17 Q93009,P18074,P42345,P53992,Q9UID3,P50851,P00813,Q08J23 8 |
| Cardiac diverticulum 0.7462143070832952 1.4912239135787348 0.1359027172756044 1.0 0.8058321892121107 4 P52701 1 |
| Abnormal cortical gyration 0.4183533341555659 1.490708307766317 0.1360380939716079 1.0 0.8058321892121107 110 Q9NXE4,Q5T440,Q05639,P51659,P78527,P35606,P43034,Q8IY37,Q93008,P38606,P08243,P49591,P42695,Q9UPN3,P51532,Q9UN37,Q08J23,Q14204,Q92785,Q96C86,Q9Y617,Q00610,Q15392,Q9BVA1,Q96F86,Q6ZXV5,O43776,Q9H267,Q9NZ01,Q96T60,Q9Y4A5,Q15042,P46821,P55011,Q01105,Q13620,Q96N66 37 |
| Atrophy degeneration affecting the brainstem 0.581754360807806 1.4901847283423366 0.1361756707274646 1.0 0.8058321892121107 10 Q9Y4A5,O15121 2 |
| Stomatitis 0.5474126988516658 1.4898289006958338 0.1362692299820751 1.0 0.8058321892121107 12 P10644,P40763,P78527,Q9Y4L1,P61011,P49327 6 |
| Dolichocephaly 0.4605524250479531 1.487931501381633 0.1367689590807135 1.0 0.8063578122524554 19 P54132,Q03164,P27635,Q8N201,P51659,Q14738,Q5H8A4,Q9NVI1 8 |
| Short thumb 0.4505169157130693 1.4872855297456298 0.1369394146575495 1.0 0.8063578122524554 34 P42766,Q14683,Q07020,Q96ST3,Q5H8A4,P21333,P18077,P62899,P61313,P60866,P08708,Q9NVI1 12 |
| Decreased circulating antibody level 0.4386371503398375 1.4867709698932157 0.1370753112208738 1.0 0.8063578122524554 39 P54132,P19447,P21333,P14174,O60934,Q9H0U3,P40763,Q9Y4L1,P50851,P11586,Q6PGP7,P26639,P00813,O75787,P18583,P18074,P42345,P48506,Q9NRZ9,P49327 20 |
| Absent speech 0.3995483447958426 1.4828942483710634 0.1381025098209751 1.0 0.8082362959483158 98 P55795,P27635,Q05639,P29401,Q7Z6Z7,Q5JPH6,P38606,Q93009,Q8N201,P54886,Q9UPN3,P51532,Q9UN37,Q92785,Q9NQT5,Q96C86,Q15046,Q15021,Q9HA77,Q6ZXV5,Q9H270,Q14683,Q9Y4A5,Q5H8A4,P55011,Q13620,O15121,Q96GM5,Q7Z392,Q96N66 30 |
| Narrow face 0.4593632260091917 1.4778683151796834 0.1394430285873802 1.0 0.8126848200016593 26 P54132,Q12830,Q9BZI7,Q9Y281,Q9Y4P3,P26196,Q96ST3,Q9Y4L1,P55011,P36507,Q7Z6Z7,Q08J23,P78347 13 |
| Acute myeloid leukemia 0.4543095999642791 1.4773029655859629 0.1395944434176645 1.0 0.8126848200016593 31 P54132,Q7Z2Z2,P42766,O60832,Q07020,O75533,P18077,P62899,P61011,P61313,P60866,P08708,P35658 13 |
| Secondary microcephaly 0.3660796463581014 1.474572959375729 0.1403273892068768 1.0 0.8148160298783619 56 Q9NXE4,P55795,P26640,Q9NQT5,Q05639,Q14683,Q96T60,Q9Y617,Q9HA77,P49770,P08243,P43034,Q13144,Q00610,O15121,Q9UQE7,Q9H270,P38606 18 |
| Decreased testicular size 0.4730052570849858 1.472858766743209 0.1407891223208857 1.0 0.8164298712132824 17 P27635 1 |
| Contractures involving the joints of the feet 0.4726394718430547 1.470364349523693 0.1414631013943019 1.0 0.8191331489666659 17 P21333,Q8IWS0,Q8TD16,Q15149,P63241,Q9Y3E5,P15924,Q08J23 8 |
| Aplasia hypoplasia of the humerus 0.6008584949637018 1.467312202205599 0.1422911458280666 1.0 0.8191331489666659 7 P36776,O75369,P21333,P53597,Q9Y5S9 5 |
| Abnormal skin morphology of the palm 0.3569706235296034 1.4671316638974603 0.1423402420230828 1.0 0.8191331489666659 73 Q9NXE4,P27635,Q14683,Q96ST3,P21333,P18206,P46821,Q06136,O00170,P36507,Q9UID3,Q15149,Q7Z392,Q69YQ0,P15924,Q15437,P62266 17 |
| Renovascular hypertension 0.6005625599180664 1.465836221410783 0.1426929106052115 1.0 0.8192746479024113 7 Q9Y4P3 1 |
| Abnormality of skin physiology 0.3654091450347292 1.4647598397378467 0.1429864523722677 1.0 0.8195429954033718 78 Q07864,P54132,Q7Z2Z2,P19447,Q9Y6X9,P50747,Q06136,O00170,P29401,P14174,P14324,P40763,O00203,Q9Y4L1,P22681,P05165,P50851,P15924,Q08J23,P53602,P11586,P00813,P22314,P49327 24 |
| Neoplasm of the breast 0.4583820621291206 1.4637764058515113 0.1432550510975976 1.0 0.819972889186038 23 Q07864,O60934,P52701,P49327,P10644,P21359,Q15437,P11802 8 |
| Primitive neuroectodermal tumor 0.5427167695455449 1.4631342515545769 0.1434306472079134 1.0 0.819972889186038 12 P21359,P60866,Q9UPY3,P52701 4 |
| Embryonal renal neoplasm 0.5764730971061494 1.462432112280021 0.1436228350298791 1.0 0.8200162380497727 10 Q8IY37 1 |
| Prominent metopic ridge 0.559711751140893 1.4605549888736649 0.1441376064182145 1.0 0.8207115496450744 11 P46821,P40763,P28482,Q96GM5 4 |
| Gonadal neoplasm 0.4571087209035858 1.4592959734544422 0.144483663174797 1.0 0.8207115496450744 20 O60934,Q9UPY3,P52701,P10644,Q8IY37 5 |
| Accelerated skeletal maturation 0.5914886275835098 1.4582972781504044 0.144758620148915 1.0 0.8209104461343631 8 Q03164,P10644,P26196,O00170 4 |
| Hirsutism 0.3902950749244154 1.457290321816106 0.145036257242705 1.0 0.8209104461343631 51 P27635,Q14683,P10644,P21333,Q9NR45,Q15042,P28482,Q06136,O00170,P46821,Q96GM5,Q9UQE7,P51532,P42704,Q92785 15 |
| Split nail 0.7380178716490662 1.4571568167187312 0.1450730977522456 1.0 0.8209104461343631 4 P19447,P26639,P18074 3 |
| Fair hair 0.7376198369775422 1.4555013080990986 0.1455305283480221 1.0 0.8216772038564487 4 O00203 1 |
| Abdominal wall muscle weakness 0.9033698741372292 1.4534777056383157 0.1460911653121919 1.0 0.82270969019228 3 P21359,P36507 2 |
| Abnormality of male internal genitalia 0.5980560533483326 1.453330869648672 0.1461319103020506 1.0 0.82270969019228 7 Q8IY37 1 |
| Delayed ability to sit 0.5020224003186009 1.4466955180801764 0.1479822203010918 1.0 0.8248979598067658 14 O43776,P24928,P43034,Q9UID3,Q13618 5 |
| Slender build 0.5564437413382447 1.442698250110337 0.1491054924056665 1.0 0.8248979598067658 11 P10644,Q9BZI7,P49591 3 |
| Single naris 0.9004694233592676 1.442645159249434 0.1491204551384135 1.0 0.8248979598067658 3 Q14683 1 |
| Abnormal morphology of the olfactory bulb 0.9004694233592676 1.442645159249434 0.1491204551384135 1.0 0.8248979598067658 3 Q14683 1 |
| Postnatal growth retardation 0.39760390282802 1.4391372729266487 0.1501116333999941 1.0 0.8262650254805128 49 P54132,P27635,P21333,P38606,Q03164,P06737,P54886,P33991,P51532,Q08J23,Q92785,P10644,O14646,Q06124,Q14683,Q96ST3,Q96GM5,Q9UQE7,Q9Y3E5 19 |
| Brachydactyly 0.362679356714955 1.4363718528304623 0.1508965580546095 1.0 0.8280710995976142 56 Q96C86,Q9BZI7,Q06124,Q99575,Q14683,Q96ST3,P10644,P21333,Q06136,P22681,Q92785,Q13620,Q7Z6Z7,Q69YQ0,Q08J23,Q15437,Q6NW34 17 |
| Abnormal hemoglobin 0.4542595505325104 1.4340474314965204 0.1515587277932706 1.0 0.8280710995976142 22 P42766,Q07020,P18077,P62899,P61011,P61313,P60866,P08708 8 |
| Ovarian cyst 0.5191546735586591 1.4330989965281744 0.1518295481826492 1.0 0.8280710995976142 13 P78347,Q9Y4P3,P10644,Q8IY37,Q15437 5 |
| Abnormal rectum morphology 0.4536864968089839 1.431934238994645 0.15216264227023 1.0 0.8280710995976142 25 Q07864,Q9UPY3,Q13428,P52701,Q9Y4P3,P53701,Q15437,P60866,Q08J23,P78347 10 |
| Cavum septum pellucidum 0.585338875043123 1.4270649444244283 0.1535611758034414 1.0 0.8328678179717788 8 P43034,Q9BVA1,Q69YQ0,P28482 4 |
| Abnormality of the testis size 0.4531049744686524 1.4256281123546202 0.1539757170771949 1.0 0.833377399325576 22 P27635,P19447,P21359,Q8IY37,Q9NVI1 5 |
| Bilateral cryptorchidism 0.5850132932529309 1.4254103003499146 0.1540386323202685 1.0 0.833377399325576 8 Q07864,P27635,P33992 3 |
| Fibrous tissue neoplasm 0.4659601321248616 1.4247898061209383 0.154217969888704 1.0 0.833377399325576 17 P52701,P21333,P21359,Q15392,P49327,Q15437 6 |
| Abnormality of the 1st metacarpal 0.6524420202622538 1.4239751181216596 0.1544536749288823 1.0 0.8336369672346234 6 Q9UQE7,Q9NVI1,Q14683 3 |
| Infectious encephalitis 0.6502877717106168 1.4142093246643224 0.1573004509288629 1.0 0.844895529656601 6 Q9Y4L1,P49327 2 |
| Abnormal thumb morphology 0.3695943677365105 1.4133117935794162 0.1575640678456036 1.0 0.8452590454201706 83 Q9NXE4,P21333,A5YKK6,P61313,Q93008,Q13618,P08708,Q7Z6Z7,Q9NVI1,P78347,Q12830,P42766,P54886,P18077,P60866,Q08J23,Q9Y4P3,Q69YN2,Q8NBU5,Q07020,Q14683,Q96ST3,Q5H8A4,P62899,P55011,Q9UQE7,Q9Y3E5 27 |
| Small for gestational age 0.343745299758721 1.412683839780656 0.1577487052348765 1.0 0.8452590454201706 68 P54132,Q15477,P51610,A5YKK6,P61011,P61313,Q93008,P08708,Q7Z6Z7,P42766,O60488,P18077,Q92979,Q9NSD9,Q9BZK7,P60866,Q08J23,Q9BZI7,Q6PGP7,P10644,Q15046,P51570,Q969M3,Q07020,Q14807,P18074,Q96ST3,P62899 28 |
| Primary microcephaly 0.4761488840838194 1.4111903102826302 0.1581885065094426 1.0 0.8457619233646807 15 P63241,Q9UN37 2 |
| Aplasia hypoplasia of the nails 0.3710425098186034 1.4109051250926938 0.1582725907851745 1.0 0.8457619233646807 54 P19447,Q8IY37,Q7Z6Z7,P63241,P78347,Q6NW34,O75369,Q99575,P51532,P15924,Q08J23,Q92785,Q9Y4P3,P26639,P46109,P28482,P18074,Q96T60,Q9Y4A5,Q14738,Q96T58,Q15149,Q96GM5 23 |
| Dysgraphia 0.5334582998008497 1.410426586425206 0.1584137596216601 1.0 0.8457619233646807 12 P60866,O96008,P52701,Q9Y4P3 4 |
| Hypopigmented macule 0.8913766689543869 1.408678030773458 0.1589303939360684 1.0 0.8474721306382554 3 P21359 1 |
| Shoulder dislocation 0.8911896061713286 1.4079791474856185 0.1591372447272894 1.0 0.8474721306382554 3 P46821,Q6ZXV5 2 |
| Hypoplasia of the frontal lobes 0.5886188927411344 1.4061860507943285 0.1596688851998766 1.0 0.8474721306382554 7 P42695 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3395510214162274 1.40493693461972 0.1600400323725503 1.0 0.8474721306382554 66 P21333,Q9NR45,Q93008,Q7Z6Z7,Q93009,Q12830,Q03164,O75369,Q99575,Q8IWS0,Q9BZK7,Q14839,Q69YQ0,Q08J23,P26196,P10644,P53597,P00813,P18583,Q14683,Q9Y4A5,Q5H8A4,Q9NWH9,Q96T58,P55011,Q13620,Q9UQE7 27 |
| Aplasia hypoplasia of metatarsal bones 0.7248962822504224 1.4025327442575986 0.1607562195898451 1.0 0.8474721306382554 4 P10644,P21333 2 |
| Pterygium 0.5648754518971068 1.4013744356654712 0.1611021327899766 1.0 0.8474721306382554 10 Q9Y617,Q15149,O00469 3 |
| Abnormal salivary gland morphology 0.6711673922874689 1.4009296927725987 0.1612350985229393 1.0 0.8474721306382554 5 P52701 1 |
| Basal cell carcinoma 0.5645744309061327 1.3997878450854515 0.1615768587382198 1.0 0.8474721306382554 10 P19447,Q9UPY3,P49327,P52701 4 |
| Lower extremity joint dislocation 0.3361685314911442 1.3984517528689075 0.1619774513534171 1.0 0.8474721306382554 60 P21333,P43034,Q93008,P38606,P78347,Q9NVI1,O75369,P49588,P53992,P54886,Q9NQT5,Q9Y4P3,Q8NBU5,Q6ZXV5,Q14807,Q14683,P46821,P55011,Q9UQE7,Q9Y3E5 20 |
| Broad neck 0.5310156046292597 1.396506060490878 0.162562156865007 1.0 0.8495307068168958 12 P21359,Q8IY37 2 |
| Cupped ear 0.5635239268356017 1.394250314843853 0.1632420288791713 1.0 0.8495836146101066 10 Q15392,P63241,Q7Z6Z7,Q14839 4 |
| Abnormal uterus morphology 0.4487965271021889 1.3933745419670105 0.1635065600041101 1.0 0.8495836146101066 23 Q07864,P52701,Q86W42,Q15437,P60866,Q69YQ0,Q9NVI1 7 |
| Brittle hair 0.493436917301523 1.3932081839608963 0.1635568456852212 1.0 0.8495836146101066 14 Q6PGP7,P18074,P19447,P26639,Q15436,P36507,P62266 7 |
| Brachycephaly 0.3587102975857887 1.3918066206644082 0.1639809645784329 1.0 0.8495836146101066 56 Q93009,Q13428,Q9BZI7,Q06124,Q14683,P10644,P54886,Q9NR45,P51610,P24928,Q15042,Q9UQE7,Q93008,Q7Z6Z7,Q69YQ0,P42704 16 |
| Pulmonary fibrosis 0.4608381942699148 1.3898158226794357 0.1645848120945494 1.0 0.8510893309941661 17 P48506,O00203,Q15149,P49327,P14174 5 |
| Laryngomalacia 0.5624148329675001 1.3884028847314325 0.1650143984549066 1.0 0.8523185557403433 10 P27635 1 |
| Abnormality of the carpal bones 0.5461146331566529 1.3861850405306506 0.1656904081986812 1.0 0.8530920816937868 11 Q14807,P54886,P21333,Q9NR45 4 |
| Asymmetric growth 0.5845878020396744 1.3860215863967318 0.165740312134565 1.0 0.8530920816937868 7 Q12830,Q93008,P28482 3 |
| Aplasia hypoplasia involving the nose 0.4474825947346799 1.384621919257266 0.1661681054934984 1.0 0.8539395999955397 22 P55795,Q96ST3,P10644,P46109,A6NHR9,P28482,Q15149,P63241,Q08J23 9 |
| Short philtrum 0.3633842492529419 1.384225381546034 0.1662894538487487 1.0 0.8539395999955397 55 Q9NXE4,P55795,Q4G0J3,Q8N5F7,Q8IY37,Q7Z6Z7,Q12830,P53992,Q08J23,Q92785,Q9BZI7,P18583,Q14683,Q9Y4A5,Q5H8A4,Q96T58,Q15042,Q9UID3,Q13620 19 |
| Thromboembolism 0.7185593327175392 1.376121704260794 0.1687839569798641 1.0 0.864750100235936 4 P10644 1 |
| Bowel diverticulosis 0.5815537135180017 1.370835202371043 0.1704263345130634 1.0 0.8682919322369107 7 P54886,Q9Y4P3 2 |
| Male infertility 0.5815455271454337 1.370794217540293 0.170439114036768 1.0 0.8682919322369107 7 P54132,Q8IY37,Q86Y56 3 |
| Abnormality of the pancreas 0.3673213745666338 1.3707508860708848 0.1704526260492089 1.0 0.8682919322369107 54 O60934,Q7Z2Z2,P53985,P52701,Q6PGP7,P49327,P10644,P48506,P40763,P05165,P60866,P14174,P11802 13 |
| Thyroid carcinoma 0.4638798504052039 1.368223689061636 0.1712420687314582 1.0 0.871314168734407 16 Q9UPY3,P49327,P51532,Q15437,Q92785 5 |
| Joint laxity 0.3393497121587462 1.358337441890041 0.1743566347115062 1.0 0.8771788630373242 68 P55795,Q8N5F7,P21333,Q9NR45,Q93008,P38606,P78347,Q15436,Q15334,P22681,Q9NSD9,P51532,Q92785,Q96C86,Q9Y4P3,P28482,Q14807,Q96ST3,Q5H8A4,Q13620 20 |
| Knee flexion contracture 0.4430752199439975 1.3583295175406562 0.1743591480550255 1.0 0.8771788630373242 20 P27635,Q9Y617,P21333,O60231,O00469 5 |
| Abnormality of the calcaneus 0.5790498154137076 1.3582971514688866 0.1743694137915257 1.0 0.8771788630373242 7 O75787,O75369,P40939,P21333 4 |
| Abnormality of the ulna 0.4416802793503621 1.3540084082485044 0.1757336951923163 1.0 0.8830419389641052 28 Q06124,Q9Y4P3,Q14683,P10644,P21333,P22681,P36507,Q9UQE7,Q9NVI1,P78347 10 |
| Abnormal scalp morphology 0.3974987917428879 1.3502648264584292 0.1769310505618779 1.0 0.887051610153343 104 Q9NXE4,P19447,Q9NR45,P61313,Q86W42,Q7Z6Z7,P63241,P08708,Q6NW34,O60934,Q13428,P42766,P18077,P22681,P36507,P60866,P51532,Q69YQ0,Q08J23,Q92785,P29372,P26639,P21359,P28482,Q07020,Q06124,Q14683,Q96ST3,Q5H8A4,P62899,Q15042,Q9UID3,Q15149,Q96GM5,P49327,P42704 36 |
| Short 1st metacarpal 0.6591980797334432 1.3480276880941415 0.1776494773600128 1.0 0.8884414700436084 5 Q9UQE7,Q9NVI1,Q14683 3 |
| Germ cell neoplasia 0.6353259522438761 1.346292144373362 0.1782083182820475 1.0 0.8884414700436084 6 Q8IY37 1 |
| Tachypnea 0.4658802242288408 1.3438987175336925 0.1789811408021902 1.0 0.8905809996803681 15 Q14683,P53621,P50747,P05165,P42704 5 |
| Trigonocephaly 0.5539253191370616 1.343612111965406 0.1790738507971039 1.0 0.8905809996803681 10 Q7Z6Z7,Q92785,Q14839 3 |
| Abnormality of the breast 0.3651079554105071 1.3392449282272825 0.1804909506034877 1.0 0.8957997794197682 84 Q07864,Q9NXE4,P54132,Q5T440,P19447,O00170,Q8IY37,Q93008,O60934,Q8IWS0,P22681,Q9BZK7,P11802,P26196,P28340,P10644,P26639,P21359,Q92974,Q9NW13,Q15437,Q06124,P52701,P18074,Q14683,Q9Y4A5,Q14738,Q5H8A4,A6NHR9,Q13620,P49327,Q9UQE7 32 |
| Spinal canal stenosis 0.6330664919329321 1.3360239952629045 0.1815414304642106 1.0 0.897258619507048 6 Q8IWS0,P10644,O00170 3 |
| Abnormality of mouth shape 0.3482974067196965 1.335866649799175 0.1815928633356227 1.0 0.897258619507048 57 Q12756,Q8N201,P18583,Q05639,P18074,Q8N5F7,P10644,Q96ST3,P40763,Q14683,P42345,Q14738,Q5H8A4,Q00610,Q96GM5,Q8IY37,Q9UQE7,P62266 18 |
| Decreased proportion of cd4 positive helper t cells 0.8713979878575306 1.334036786595486 0.1821918008058953 1.0 0.8982197327189647 3 Q9H0U3 1 |
| Hiatus hernia 0.5660087251631092 1.3286655726122398 0.1839583279343095 1.0 0.9059233843505576 8 Q8NBU5,P54886 2 |
| Pulmonary insufficiency 0.653900061206253 1.324589313278992 0.185307402330815 1.0 0.9095419681253926 5 P15924 1 |
| Gastrointestinal atresia 0.518227953847769 1.3235604630894409 0.185649063209615 1.0 0.9102131774581788 12 Q96ST3,Q7LBC6,Q15149,Q96GM5 4 |
| Blue irides 0.5646353682749404 1.3216644983647985 0.1862798954411038 1.0 0.9106288186657208 8 P10644,P78347,Q9Y4P3 3 |
| Glaucoma 0.3432631440883285 1.3202822504083764 0.1867407994444017 1.0 0.9115413528923432 72 Q6P2Q9,P21333,P53701,Q06136,P61313,P08708,P78347,P42766,P18077,P60866,Q9Y4P3,Q6PGP7,P21359,Q92620,Q07020,Q14683,O43395,P62899,P12235,P49327 20 |
| Volvulus 0.6527256460322319 1.3193922867524577 0.1870379990809492 1.0 0.9119898923354296 5 Q9UID3,Q9UQE7,Q14683 3 |
| Ovarian neoplasm 0.4501285547464358 1.3166555806853508 0.1879540991857222 1.0 0.9140663088425274 17 O60934,Q9UPY3,P52701,Q8IY37 4 |
| Cavernous hemangioma 0.6515210849597572 1.3140613891047848 0.1888255462285997 1.0 0.9140663088425274 5 Q15437 1 |
| Exercise induced muscle fatigue 0.8649564643741442 1.3099799419267737 0.1902026211958591 1.0 0.9140663088425274 3 P53985 1 |
| Increased muscle fatiguability 0.8649564643741442 1.3099799419267737 0.1902026211958591 1.0 0.9140663088425274 3 P53985 1 |
| Decreased activity of mitochondrial complex iii 0.6502919794443844 1.3086214121755084 0.1906626241444904 1.0 0.9140663088425274 5 Q5JPH6 1 |
| Multifocal epileptiform discharges 0.4370974863946251 1.3074484710751084 0.1910604445330741 1.0 0.9140663088425274 23 Q96C86,Q9NZ01,Q96T60,P49591,P55011,Q9HA77,Q96F86,P42704,Q96N66 9 |
| Breast carcinoma 0.4546878326480759 1.3067413285580616 0.1913005773920206 1.0 0.9140663088425274 16 Q07864,P21359,P52701,Q15437 4 |
| Abnormal pancreas morphology 0.5145287994548347 1.3024442741231816 0.1927645559534325 1.0 0.9140663088425274 12 Q7Z2Z2,O75369,P40763,P61011,A5YKK6,Q9Y3E5 6 |
| Eczema 0.4275874331667204 1.3016290519840297 0.19304322352457 1.0 0.9140663088425274 34 Q07864,Q7Z2Z2,P11586,P19447,P26639,Q9Y6X9,P40763,P50747,P61011,P05165,P29401,Q08J23 12 |
| Cleft upper lip 0.4357014664985245 1.300027242005591 0.1935916324882649 1.0 0.9140663088425274 26 Q9NXE4,O60934,Q13428,O75369,Q15738,Q14683,P29372,O15344,Q5H8A4,Q6KC79,Q69YQ0 11 |
| Abnormal circulating methionine concentration 0.7002057040271091 1.2995549747787103 0.1937535399867358 1.0 0.9140663088425274 4 P55263 1 |
| Hypermethioninemia 0.7002057040271091 1.2995549747787103 0.1937535399867358 1.0 0.9140663088425274 4 P55263 1 |
| Unusual fungal infection 0.6250016541178369 1.2993550236742355 0.1938221192263931 1.0 0.9140663088425274 6 P40763,O00203 2 |
| Sandal gap 0.4409975718616923 1.2984670616220786 0.1941268878048956 1.0 0.9140663088425274 18 Q12830,Q96C86,P21333,P46109,P28482,Q13620,P15924,Q08J23 8 |
| Microphallus 0.6988094008279055 1.2937273906660562 0.1957596007073609 1.0 0.9140663088425274 4 Q9Y4A5 1 |
| Abnormality of skin pigmentation 0.3940877935082469 1.2927586316498094 0.1960945522318762 1.0 0.9140663088425274 105 Q15477,P54132,O14617,O60832,P19447,P21333,Q06136,P53701,O00170,Q93008,Q7Z6Z7,Q9NVI1,O60934,Q12830,P53992,Q15436,O00203,P22681,P36507,P50851,P33991,Q08J23,P11802,Q96C86,Q6PGP7,P26196,P10644,P26639,P55265,P21359,P28482,Q9NW13,Q15437,Q06124,P52701,P18074,P42345,Q96ST3,P55011,Q15149,P49327,Q7Z392 42 |
| Abnormal cd4 cd8 ratio 0.6979342705000237 1.290074892660873 0.1970246562871527 1.0 0.9140663088425274 4 Q9H0U3 1 |
| Down sloping shoulders 0.4517843523943463 1.287322099787665 0.1979820437811899 1.0 0.9140663088425274 16 Q12830,Q9Y4P3,P55011,Q13620,Q7Z6Z7,P78347 6 |
| Thyroid adenoma 0.6969943135661922 1.2861517853660684 0.1983900940738676 1.0 0.9140663088425274 4 P10644,P49327,P20585 3 |
| Hypopigmented skin patches 0.4319476699883583 1.283461256476719 0.1993305248210055 1.0 0.9140663088425274 19 P54132,P49327,P18074,P42345,P19447,P53992,P53701,Q15437,Q9NVI1 9 |
| Abnormality of cranial sutures 0.3365928406294711 1.2811457951268754 0.2001424610968019 1.0 0.9140663088425274 70 P19447,P51659,P21333,Q7Z6Z7,P38606,Q93009,O75369,P53992,Q15436,P40763,P54886,P98175,Q14839,Q69YQ0,Q08J23,Q92785,Q12756,P26196,Q9Y617,P26639,P28482,Q8IYI6,P18583,P18074,P46821,Q96GM5,Q9UQE7,O00469 28 |
| Hypoplasia of teeth 0.4381406257773794 1.2785198588081732 0.2010661871998502 1.0 0.9140663088425274 18 Q15436,P21359,P55011,A6NHR9,Q15149 5 |
| Aplasia cutis congenita 0.5560736029413571 1.2779997927698568 0.2012494993363278 1.0 0.9140663088425274 8 Q14692,Q15149,P15924 3 |
| Chronic neutropenia 0.6194507906214054 1.274104125879712 0.202626516418277 1.0 0.9186627012251444 6 Q7Z2Z2,P50851 2 |
| Broad toe 0.4306182368223246 1.2739628068035422 0.2026765977489062 1.0 0.9186627012251444 19 Q93008,Q7Z6Z7,P55011,Q14683 4 |
| Finger syndactyly 0.4321705908622991 1.2729852999447238 0.2030232582431799 1.0 0.9192959358982724 22 Q14692,P27635,P98175,Q15149,Q69YQ0,P15924,Q9NVI1 7 |
| Abnormal hair laboratory examination 0.6187212179086529 1.2707847820425835 0.2038052240505006 1.0 0.919941727919469 6 P19447,P26639,Q6PGP7,P18074 4 |
| Abnormality of the ovary 0.3845034063073785 1.2702210486620231 0.2040059019708917 1.0 0.919941727919469 48 P54132,O60934,Q9UPY3,Q06124,P52701,Q9Y4P3,P49327,P10644,P49770,P51570,O00170,Q13144,Q86W42,Q8IY37,Q15437,Q01844,P78347 17 |
| Unusual infection by anatomical site 0.5614059531214888 1.269843528518412 0.2041403720308592 1.0 0.919941727919469 7 Q9Y4L1,P49327 2 |
| Tracheoesophageal fistula 0.4488915776573514 1.2679780749084666 0.2048057804055569 1.0 0.919941727919469 16 P78347,Q9Y4P3,P55011,Q69YQ0,Q9NVI1 5 |
| Flexion contracture of digit 0.3757911693015743 1.2650366519810077 0.2058581894533886 1.0 0.919941727919469 50 P27635,Q8N5F7,Q9Y6X9,P21333,Q86W42,P63241,Q7Z6Z7,P38606,Q8IWS0,Q92979,P15924,Q9BZI7,P46109,P28482,Q8NBU5,P22314,P18074,Q14683,Q14738,Q15042,Q13620 21 |
| Resting tremor 0.4536418188560528 1.263665451849333 0.2063501303334924 1.0 0.9208797717056696 15 P31930,O75165,Q14683,P12235,P26358,Q6Y7W6,Q04637 7 |
| Obsessive compulsive behavior 0.4227597741540586 1.262621826727346 0.2067251199637891 1.0 0.9208797717056696 34 Q93009,P55795,Q9Y4P3,Q14683,Q96ST3,Q9Y4A5,P46109,P28482,P46821,Q93008,P29401,P78347,Q92785 13 |
| Cerebral visual impairment 0.3619871963842104 1.2615669408022818 0.2071046582471778 1.0 0.9208797717056696 53 Q14204,Q96C86,Q9NZ01,Q05639,Q14683,P08243,P49591,P35606,Q01105,Q9UID3,P12235,P55011,Q00610,Q9H270,Q96F86,Q08J23,Q96N66 17 |
| Periventricular leukomalacia 0.4721348719309133 1.2603202061853165 0.2075538736194131 1.0 0.9212767871492014 14 Q93009,P18583,P19447,P26639,Q9Y6X9,P11498 6 |
| Gonosomal inheritance 0.346956370705164 1.260168040891727 0.2076087491977376 1.0 0.9212767871492014 56 P55795,P27635,Q8N5F7,P00558,P21333,P51610,P51571,P53701,Q93008,Q7Z6Z7,O60488,Q9H0U3,P98175,Q8IWS0,Q9BZI7,P29372,P22314,O14654,O75787,Q14683,Q13620,O95239 22 |
| Pancreatic adenocarcinoma 0.5590215877582128 1.2578810582388618 0.2084347749710238 1.0 0.923368468064444 7 P52701 1 |
| Single transverse palmar crease 0.4219241804144243 1.2558760338984452 0.2091609190014804 1.0 0.925391237255554 34 Q9NXE4,P27635,Q14683,P46821,Q9UID3,P62266 6 |
| Aphthous ulcer 0.6377972187046262 1.2533024319140778 0.2100956637362507 1.0 0.9267576348723195 5 P49327,P78527 2 |
| Decreased fertility 0.4404078466407269 1.2502746847356456 0.2111992227280095 1.0 0.9279229503859792 17 P54132,P19447,Q86Y56,O00170,Q8IY37,Q9NVI1 6 |
| Arachnodactyly 0.4285811019483729 1.249639025553918 0.2114314403897244 1.0 0.9279229503859792 27 P55795,O43776,Q9BZI7,P18583,Q96ST3,Q8N5F7,P53992,Q5H8A4,P21333,P46109,P28482,Q15334 12 |
| Urticaria 0.5429438163364909 1.2470952413859175 0.212362577584463 1.0 0.9279229503859792 9 P49327,P22681 2 |
| Pseudobulbar paralysis 0.6131362461921657 1.245372403922122 0.2129948923040414 1.0 0.9279229503859792 6 Q14203,P54886 2 |
| Severe combined immunodeficiency 0.6359081969632677 1.2449377032961009 0.2131546503848453 1.0 0.9279229503859792 5 P78527,P11586 2 |
| Inappropriate crying 0.5562520364206957 1.243985010969778 0.2135050795667985 1.0 0.9279229503859792 7 Q9Y617 1 |
| Abnormal levels of alpha fetoprotein 0.6355265031851122 1.2432475387996718 0.2137766295688987 1.0 0.9279229503859792 5 Q9NWH9 1 |
| Abnormal lacrimal duct morphology 0.6350299231543848 1.2410486571003432 0.214587774706783 1.0 0.9279229503859792 5 A6NHR9,Q13428,Q9UQE7 3 |
| Chorea 0.329762878050341 1.2402251564459932 0.2148921261325567 1.0 0.9279229503859792 68 Q05639,P51610,O60701,P49591,Q9BWD1,Q9UN37,Q08J23,O75306,Q14204,Q96C86,Q00610,Q9HA77,Q96F86,Q9NZ01,Q96T60,Q01105,P55011,O95169,Q7Z392,P42704,Q96N66 21 |
| Agnosia 0.5554884845872478 1.240153817961711 0.2149185062236047 1.0 0.9279229503859792 7 P60866,O96008,P52701 3 |
| Speech apraxia 0.4258395722741916 1.2398389102806255 0.2150349830895852 1.0 0.9279229503859792 19 Q93009,Q12830,O14646,P51570,P55011,Q7Z392,Q7Z6Z7 7 |
| Microretrognathia 0.5184855829140387 1.2346970120830931 0.2169432883284552 1.0 0.9279229503859792 11 P27635 1 |
| Abnormality of the inner ear 0.5405388833353256 1.2346106007440942 0.2169754618094708 1.0 0.9279229503859792 9 P10644,Q13428,Q15046,P22681 4 |
| Thin vermilion border 0.4020344769564514 1.2331561027713684 0.2175175294082607 1.0 0.9279229503859792 114 Q9NXE4,P27635,P78527,P51610,P35606,Q86W42,Q93008,P63241,Q7Z6Z7,P62266,Q03164,Q12830,O60488,Q15436,O00203,Q9BZK7,P42695,P51532,Q69YQ0,Q92785,Q96C86,Q9BZI7,P26196,P29372,P46109,P21359,P28482,Q92974,Q00610,P18583,Q14683,P42345,Q96ST3,Q9Y4A5,Q14738,Q5H8A4,Q96T58,Q15042,P55011,Q9UID3,P35573,Q96GM5,Q7LBC6,Q9UQE7,Q9Y3E5 45 |
| Tapered finger 0.4189992155411061 1.2322782891410888 0.2178451470252156 1.0 0.9279229503859792 34 Q03164,Q12756,P27635,O60488,P26196,Q14683,Q8IWS0,P28482,Q06136,A5YKK6,O00170,P46821,Q14839,Q93008,Q7Z6Z7 15 |
| Renal dysplasia 0.5020069813329332 1.2309572183421909 0.218338865486003 1.0 0.9279229503859792 12 Q8N201,Q96T60,Q15149,Q93008,O75306 5 |
| Abnormality of the gastric mucosa 0.5018323462077338 1.2299604233367991 0.2187119255182752 1.0 0.9279229503859792 12 P50851,Q6PGP7,P49327,Q9Y4P3 4 |
| Abnormal number of teeth 0.3180939025031359 1.2275548783626755 0.2196141089363399 1.0 0.9279229503859792 62 P54132,O95319,Q05639,P21333,A5YKK6,Q8IY37,Q7Z6Z7,P38606,P78347,Q6NW34,P62266,Q13428,O75369,Q99575,O60488,P15924,Q9Y4P3,P10644,Q00610,Q14683,Q5H8A4 21 |
| Bradykinesia 0.4307287945037528 1.226809428791812 0.2198942261476062 1.0 0.9279229503859792 18 P31930,O75165,P12235,Q14203,Q5JPH6,Q6Y7W6,Q04637 7 |
| Aortic aneurysm 0.4143711886861925 1.223370944224396 0.2211896225533638 1.0 0.9279229503859792 36 Q12830,O75369,Q9Y4P3,P26196,Q8N5F7,P54886,P21333,P55265,P46109,P28482,P46821,P55011,Q7Z6Z7,Q6ZXV5,P78347 15 |
| Hydroureter 0.551992101937256 1.222610291000019 0.221476924345493 1.0 0.9279229503859792 7 Q9NVI1,P21333 2 |
| Tracheomalacia 0.5308197190204885 1.2215446211987548 0.2218798817330092 1.0 0.9279229503859792 10 Q14807,O75369,P46777,Q9Y4A5,Q93008 5 |
| Limb joint contracture 0.3367930176427318 1.2202879878282415 0.2223557218285876 1.0 0.9279229503859792 73 P27635,Q9Y6X9,P21333,P63241,Q5JTV8,P40763,P54886,Q8IWS0,Q8TD16,Q92979,P15924,Q08J23,Q9BZI7,Q9Y617,P46109,P28482,Q15392,P22314,Q14807,P18074,Q14683,Q14738,Q96T58,Q15042,O60231,Q13620,Q15149,O00469,Q9Y3E5 29 |
| Neoplasm of the thyroid gland 0.4249816644515099 1.2186077783559552 0.222993095366446 1.0 0.9279229503859792 23 Q9UPY3,P52701,P49327,P60866,P51532,Q15437,Q92785 7 |
| Submucous cleft of soft and hard palate 0.4228285508381164 1.2183559876039112 0.2230887226328297 1.0 0.9279229503859792 19 Q9Y617,A6NHR9,P36507,Q15392,P62266 5 |
| Toe syndactyly 0.3963002871314217 1.2175951899968698 0.2233778431910116 1.0 0.9279229503859792 43 Q14692,P27635,Q9BZI7,O60488,Q14683,Q96ST3,P21333,P51610,P46109,P28482,P55011,Q13620,Q15149,Q93008,Q9UQE7,Q08J23,Q9NVI1 17 |
| Combined immunodeficiency 0.6070145219227949 1.2175164262713196 0.2234077905197458 1.0 0.9279229503859792 6 P78527,P11586 2 |
| Functional abnormality of the middle ear 0.3277935256439565 1.2160607887784918 0.2239617661267687 1.0 0.9279229503859792 68 Q6P2Q9,P21333,A5YKK6,P63241,Q7Z6Z7,Q9NVI1,P62266,Q12830,Q13428,O75369,P53992,Q69YQ0,P26196,Q86Y56,P21359,Q92620,Q14683,O43395,Q96T58,A6NHR9,P55011,Q9UQE7 22 |
| Abnormality of the elbow 0.3862661625244105 1.2159764483518438 0.2239938938501495 1.0 0.9279229503859792 46 Q03164,Q12830,Q14807,Q06124,Q99575,Q14683,P10644,P54886,P21333,P21359,P28482,Q13620,P22681,P36507,Q9UQE7,O00469,P22314 17 |
| Short palpebral fissure 0.4245126897411335 1.215174457933745 0.224299559995873 1.0 0.9279229503859792 23 Q9NXE4,P55795,Q03164,O60701,O95602,P98175,Q86W42,Q14839,Q93008,Q7Z6Z7,Q9NVI1 11 |
| Epiphyseal dysplasia 0.6799010927520113 1.2148192781472944 0.2244350264525083 1.0 0.9279229503859792 4 Q14807 1 |
| Abnormal circulating iga level 0.5293579906565772 1.2138210954877364 0.2248160488632247 1.0 0.9279229503859792 10 P54132,Q96BN8,P42345,P50851,P49327,P00813 6 |
| Abnormal blistering of the skin 0.4348442007006525 1.2123215064680102 0.2253893344871596 1.0 0.9279229503859792 17 Q06136,P22681,Q15149,P49327,P15924 5 |
| Diminished movement 0.4458003627272135 1.2122924196831335 0.2254004645354506 1.0 0.9279229503859792 15 Q14203,O75165,Q15046,Q04637 4 |
| Fine hair 0.4981661986002583 1.209037667488283 0.2266483744346463 1.0 0.9304732710154336 12 Q96ST3,P22681,P36507,Q6PGP7 4 |
| Flushing 0.5423503285511394 1.2079818965164082 0.2270542259147787 1.0 0.9312787363928414 8 P22681 1 |
| Fragile nails 0.5418007503710108 1.2051781135358528 0.2281345496080242 1.0 0.9313588984366644 8 Q96ST3,P19447,P26639,P15924 4 |
| Abnormal uvea morphology 0.3372292588138803 1.204855553698054 0.2282590693816071 1.0 0.9313588984366644 74 P54132,O14617,P21333,Q12797,P53701,P29401,P14174,P78347,P38606,Q9NVI1,Q13428,O00203,P50851,Q9Y4P3,P10644,P21359,P28482,P52701,Q96ST3,O75533,O60231,A6NHR9,P49327,Q7Z392 24 |
| Ridged nail 0.6268129487890045 1.2046670417823024 0.2283318642143723 1.0 0.9313588984366644 5 P19447,P26639,P18074 3 |
| Atrophy degeneration involving the spinal cord 0.626332828316976 1.202541611204119 0.2291537543492769 1.0 0.9313588984366644 5 Q9Y6X9,P54886 2 |
| Short attention span 0.3906668326081084 1.2015276895347609 0.2295465721716461 1.0 0.9313588984366644 108 P55795,Q7Z2Z2,O95319,Q05639,Q8N5F7,P51610,P61011,Q93008,P29401,Q7Z6Z7,P38606,P78347,Q03164,Q12830,O60934,Q93009,O60488,P49588,P49591,P60866,Q08J23,Q96C86,Q9BZI7,Q9Y4P3,P46109,P21359,P53597,P28482,Q00610,Q9BVA1,Q96F86,P52701,Q9NZ01,Q14683,Q96ST3,Q96T60,P46821,P55011,Q7LBC6,Q9UQE7,Q96N66 41 |
| Solitary median maxillary central incisor 0.8342520159429956 1.1955095556709825 0.2318880050507952 1.0 0.9381115832747108 3 Q14683 1 |
| Profound sensorineural hearing impairment 0.8334194286754741 1.192412545762997 0.2330995234185322 1.0 0.9402048956139748 3 P55011 1 |
| Congenital onset 0.351108919781091 1.1910994365193732 0.2336145510634746 1.0 0.9402048956139748 83 Q07864,P27635,Q5T440,P51571,A5YKK6,P11498,Q9BW92,P63241,O75369,P49588,Q8TEQ6,O00203,Q7L0Y3,Q9NQT5,Q96C86,Q9Y617,Q15046,Q8NBU5,Q14683,Q9NRZ9,Q8TCJ2,Q5H8A4,Q15042,P55011,P12235,Q15149,Q9Y3E5,Q96N66 28 |
| Recurrent sinopulmonary infections 0.5454562182916338 1.1898192360613693 0.2341174473266667 1.0 0.9402048956139748 7 O60934,P40763,Q86Y56 3 |
| Abnormal fallopian tube morphology 0.6230898711462548 1.188187086116876 0.2347597103052603 1.0 0.9402048956139748 5 P53701 1 |
| Widow s peak 0.6734362307067258 1.1878572699715733 0.2348896467787056 1.0 0.9402048956139748 4 P29372,Q69YQ0,O15344 3 |
| Abnormal thyroid morphology 0.4117797936681547 1.1872913322672165 0.2351127258529572 1.0 0.9402048956139748 35 Q9UPY3,Q13428,P52701,O14654,P49327,P10644,P12235,P50851,Q96GM5,P60866,P51532,P00813,Q15437,Q92785 14 |
| Portal fibrosis 0.6730300568643279 1.186163839357229 0.2355576034896445 1.0 0.9402048956139748 4 Q9H3U1,P55263,P06737 3 |
| Abnormal esophagus morphology 0.4146315228517734 1.1852703071616435 0.2359105895400937 1.0 0.9402048956139748 33 P54132,Q13428,Q9Y4P3,P55011,Q8NBU5,Q9NSD9,Q15149,Q7Z392,Q9NVI1,Q69YQ0,P78347 11 |
| Neoplasm of the skin 0.4143756659040203 1.1832337209641524 0.2367165321633813 1.0 0.9402048956139748 33 P54132,P53602,Q9UPY3,P52701,P14324,P49327,P19447,P10644,P21359,Q06136,Q15437,P60866,P11802 13 |
| Abnormality of endocrine pancreas physiology 0.8307760881745795 1.1825832553702822 0.236974351943312 1.0 0.9402048956139748 3 P53985 1 |
| Severe viral infection 0.621794346537277 1.182453529770123 0.2370257939569682 1.0 0.9402048956139748 5 Q9H0U3 1 |
| Long ear 0.9512987012987062 1.1816184538608157 0.2373571278959807 1.0 0.9402048956139748 2 P63241 1 |
| Red eye 0.4303162161821953 1.1814682589630183 0.2374167555861031 1.0 0.9402048956139748 17 P19447,P50747,P50851,P49327,P29401 5 |
| Allergy 0.5988181830777951 1.1802278587235715 0.2379096017003694 1.0 0.9402048956139748 6 P42345,Q9Y5S9,O14646,P00813 4 |
| Abnormal nipple morphology 0.3751537985231186 1.1799116964890384 0.2380353373634565 1.0 0.9402048956139748 48 Q9NXE4,Q06124,Q5T440,P18074,P26196,P19447,P26639,Q14683,Q9Y4A5,Q14738,Q5H8A4,P21359,Q92974,P22681,Q6KC79,Q9BZK7,Q93008,Q9UQE7 18 |
| Parkinsonism with favorable response to dopaminergic medication 0.5298989442784351 1.179387752638546 0.2382438097176253 1.0 0.9402048956139748 9 P31930,O75165,Q04637 3 |
| Sprengel anomaly 0.4181236570254099 1.179364077095468 0.238253233037462 1.0 0.9402048956139748 29 P42766,Q07020,P18077,P21333,P62899,P61313,P60866,P08708 8 |
| Self injurious behavior 0.4121908387913774 1.1774624462956154 0.2390109780325644 1.0 0.9402048956139748 34 Q93009,P55795,Q4G0J3,P27635,Q12756,Q05639,Q96T60,Q96T58,P28482,Q01105,Q6KC79,Q00610,P29401,Q14204 14 |
| Pericarditis 0.8292116742561138 1.176768387982944 0.2392879632902613 1.0 0.9402048956139748 3 P14174 1 |
| Periventricular heterotopia 0.5361373624375045 1.1762904903981524 0.2394788145428057 1.0 0.9402048956139748 8 P46821,Q6ZXV5,O60231 3 |
| Abnormal phalangeal joint morphology of the hand 0.4189933114149545 1.1736166018438878 0.2405486283733759 1.0 0.943086502413536 25 P27635,Q9BZI7,P18074,Q14683,Q9Y6X9,P21333,P46109,Q15042,P28482,Q92979,Q13620 11 |
| Chylothorax 0.6690588369876432 1.1696109506028929 0.2421575684914889 1.0 0.9480766186885008 4 P22681 1 |
| Abnormality of the cervical spine 0.3605065624158891 1.168959169552834 0.2424200822701339 1.0 0.9480766186885008 90 Q07864,Q9NXE4,Q9NR45,P43034,P61313,Q8IY37,P08708,Q9NVI1,O60934,Q12830,O75369,Q8N201,Q99575,P42766,P53992,P18077,P22681,P36507,P60866,Q9Y617,P21359,P28482,Q07020,Q06124,Q14683,P62899,Q13620,Q9UQE7 28 |
| Broad thumb 0.4166450963621184 1.168467304721036 0.242618320062637 1.0 0.9480766186885008 20 Q12830,O75369,P26196,Q15022,P21333,P55011,Q93008,Q7Z6Z7,Q08J23 9 |
| Aplasia hypoplasia involving the pelvis 0.5206953360096656 1.1680650755047417 0.2427805164421403 1.0 0.9480766186885008 10 Q99575,Q9NR45 2 |
| Abnormality of the abdominal wall 0.3587665893169048 1.1671469570522148 0.2431510274558999 1.0 0.9482676593144048 89 P27635,P19447,P21333,P24928,P43034,Q93008,P38606,Q9NVI1,P78347,O75369,P53992,P54886,P22681,Q9NSD9,Q69YQ0,Q9Y4P3,Q6PGP7,P26196,P26639,P46109,P28482,Q8NBU5,P22314,Q06124,P18074,P42345,Q96ST3,Q96T60,Q9Y4A5,Q9NRZ9,A6NHR9,Q6KC79,Q13620,Q7LBC6,O00469 35 |
| Low frustration tolerance 0.5336733722860998 1.1637263721492404 0.2445349184230338 1.0 0.9513359816057002 8 Q03164,O75165,Q6Y7W6,Q04637 4 |
| Aplasia hypoplasia of the femur 0.5050416888965176 1.1609943622137646 0.2456441921746288 1.0 0.9513359816057002 11 P53597,Q14839,Q99575,Q9NR45 4 |
| Palpebral edema 0.6667525071417417 1.160001391607326 0.2460482395202734 1.0 0.9513359816057002 4 A6NHR9,O00170 2 |
| Embryonal neoplasm 0.4161234922655201 1.159984406905164 0.2460551547760308 1.0 0.9513359816057002 21 P54132,Q9UPY3,Q6PGP7,Q96GM5,Q8IY37,P51532,Q92785 7 |
| Abnormality of the curvature of the cornea 0.3379165222465938 1.159531857427239 0.2462394587244616 1.0 0.9513359816057002 56 P26640,Q6P2Q9,P19447,P21333,Q93008,Q7Z6Z7,P78347,Q9NVI1,Q12830,Q8N201,Q14839,Q9Y4P3,P26196,P26639,Q92974,Q92620,P18074,O43395,Q14738,P55011 20 |
| Abnormal leukocyte physiology 0.3520757703432164 1.1574224390481802 0.247099810716018 1.0 0.9519664867307476 53 O60934,P11586,Q6PGP7,P19447,Q9H0U3,P48506,P40763,Q9NRZ9,P21333,O00203,Q9Y4L1,P50851,P49327,P00813,P14174 15 |
| Hypochromic anemia 0.530877936253247 1.1494762703090569 0.2503596461140782 1.0 0.9547754797324858 8 P49327,Q15046,Q9Y4L1 3 |
| Alopecia of scalp 0.5372061184246796 1.148447613294871 0.2507838275380063 1.0 0.9547754797324858 7 P19447,P26639,Q15149,P18074 4 |
| Abnormal shape of the frontal region 0.3491426550792227 1.148316009149147 0.2508381325636675 1.0 0.9547754797324858 84 Q07864,P51659,P21333,P43034,O00170,P63241,Q9NVI1,Q13428,O75369,Q8N201,Q15436,P40763,P54886,P22681,P36507,Q9P2J5,Q69YQ0,Q9UPY3,Q6PGP7,P26196,P29372,O14646,P55263,Q15392,P18583,P42345,Q14738,Q5H8A4,Q96GM5,Q9UQE7 30 |
| Dilation of virchow robin spaces 0.941558441558449 1.146455509559111 0.2516067258783543 1.0 0.9559099793432628 2 P27635 1 |
| Abnormal nasolacrimal system morphology 0.5163991137449646 1.1453884193446773 0.2520482933734982 1.0 0.9559099793432628 10 A6NHR9,Q9Y617,Q13428,P53701 4 |
| Abnormal leukocyte count 0.3600597179704964 1.1451394154135417 0.2521514102029512 1.0 0.9559099793432628 91 O14617,Q7Z2Z2,O15143,P19447,P61313,P08708,Q9NVI1,O60934,Q9H0U3,P40763,P18077,O00203,Q9Y4L1,P22681,P05165,P50851,P60866,P11586,Q6PGP7,P10644,Q07020,P00813,Q9NRZ9,P62899,P49327 25 |
| Male pseudohermaphroditism 0.9411525974026036 1.1449927075013973 0.2522121782508564 1.0 0.9559099793432628 2 Q8IY37 1 |
| Muscular dystrophy 0.4138304163615132 1.1434805155383112 0.2528391399630245 1.0 0.9574692751199958 21 Q5JTV8,Q96T60,Q9Y617,A6NHR9,Q15149,Q7Z392 6 |
| Weak voice 0.612657174560332 1.1420359375885578 0.2534390819567105 1.0 0.9581075762142196 5 Q14203,P43243 2 |
| Abnormal iris pigmentation 0.4522188362277796 1.136242460950339 0.2558551044084869 1.0 0.9623665253357108 14 O14617,Q9Y4P3,P10644,O00203,P78347 5 |
| Curly eyelashes 0.6110860522720138 1.1350907145544966 0.2563373116766829 1.0 0.9623665253357108 5 Q9UQE7,Q14683 2 |
| Erythema 0.4289480690884219 1.1348736904625136 0.2564282448355113 1.0 0.9623665253357108 16 Q969U7,P19447,P40763,P53701,Q06136,P15924 6 |
| Bicornuate uterus 0.6109997598293805 1.1347093001313648 0.256497139342243 1.0 0.9623665253357108 5 Q9NVI1 1 |
| Abnormal glial cell morphology 0.3626637822244482 1.1342724977268872 0.256680261741733 1.0 0.9623665253357108 50 P20585,P51659,P49770,Q13144,P38606,O60934,P60866,O75306,P49792,P55265,P21359,Q6Y7W6,O75165,P52701,O95169,Q9H9P8,Q7LBC6,P42704,Q04637 19 |
| Broad distal phalanx of finger 0.6593329783711316 1.129109491036011 0.2588516480332501 1.0 0.964707202523076 4 Q14807,P21333 2 |
| Abnormality of upper limb joint 0.350744646172597 1.1290536825315254 0.258875188532272 1.0 0.964707202523076 86 P27635,Q9Y6X9,Q9NR45,P21333,P78347,Q03164,Q12830,O75369,Q99575,P54886,P22681,P36507,Q9BZI7,Q9Y4P3,P10644,P46109,P21359,P28482,Q15392,P22314,Q14807,Q06124,Q14683,Q9Y3E5,O60231,Q15042,Q13620,Q9UQE7,O00469 29 |
| Congenital ichthyosiform erythroderma 0.6096941506678887 1.1289390843381315 0.2589235316693994 1.0 0.964707202523076 5 P19447,P26639,P18074 3 |
| Absent testis 0.9362824675324746 1.1274546350465966 0.2595503104963392 1.0 0.964707202523076 2 Q8IY37 1 |
| Enamel hypoplasia 0.4984533741413279 1.124925054776712 0.260620793897504 1.0 0.964707202523076 11 O75369,P19447,P26639,P21359,Q15149 5 |
| Abnormal pulmonary interstitial morphology 0.4114502791951364 1.1237970380695954 0.261099138320503 1.0 0.964707202523076 28 O14617,P53621,P48506,P40763,O00203,Q86Y56,Q15149,P49327,P14174 9 |
| Abnormality of the anus 0.4075844112819007 1.1195637497697812 0.2628997104317365 1.0 0.9667829535364147 32 O60934,O60832,P53992,P26196,P29372,Q96ST3,O15344,Q15022,Q96T58,P53701,Q86W42,Q14839,Q93008,Q69YQ0,Q08J23,Q9NVI1 16 |
| Thoracolumbar kyphoscoliosis 0.9330357142857144 1.1157791797591934 0.2645166679711548 1.0 0.967009449648841 2 Q6NW34 1 |
| Inflammatory abnormality of the eye 0.4070000919500391 1.1149811435793304 0.2648585022777099 1.0 0.967009449648841 32 P54132,P18074,Q14683,P19447,P26639,O75533,P50747,Q6KC79,Q15149,P50851,P49327,P29401,Q9UQE7,P14174 14 |
| Aplasia hypoplasia of fingers 0.3397796094221412 1.114790456271536 0.2649402271531766 1.0 0.967009449648841 80 P27635,P21333,P51610,P61313,Q93008,Q13618,P08708,Q9NVI1,Q6NW34,Q03164,O75369,P42766,O60488,P18077,Q8IWS0,Q9BZK7,P60866,P51532,Q08J23,Q92785,Q9BZI7,P46109,P28482,Q07020,P18583,Q14683,P42345,Q96ST3,Q96T60,Q5H8A4,P62899,Q96GM5,Q9UQE7 33 |
| Absent fingernail 0.5240298458769933 1.1145911694829382 0.2650256561666739 1.0 0.967009449648841 8 Q96T60,P15924,P46109 3 |
| Autosomal dominant germline de novo mutation 0.8120178643930087 1.1129980835887188 0.2657092525536815 1.0 0.967009449648841 3 Q9HCK8,P24928 2 |
| Thin skin 0.4079179071158109 1.112295065964536 0.2660113046218093 1.0 0.967009449648841 19 P10644,P19447,P54886,P21333,P46821,Q6ZXV5 6 |
| Abnormal patella morphology 0.4087662511785185 1.112162762990898 0.2660681751139901 1.0 0.967009449648841 20 Q14807,O75369,Q9Y4P3,P21333,P46821,Q93008,Q6ZXV5,P78347 8 |
| Fibular hypoplasia 0.6058260141851742 1.111850793823033 0.266202308332313 1.0 0.967009449648841 5 Q9NWH9 1 |
| Aplasia hypoplasia of the ulna 0.522894595120112 1.108812038598115 0.2675112759862441 1.0 0.967009449648841 8 P10644,Q9NVI1 2 |
| Severe infection 0.5830086993858282 1.108380907444511 0.2676973469122519 1.0 0.967009449648841 6 Q9H0U3 1 |
| Recurrent otitis media 0.4094594336992812 1.1081368096336497 0.2678027359693702 1.0 0.967009449648841 22 Q9H0U3,O00203,P21333,Q86Y56,P50851,Q92785 6 |
| Gynecomastia 0.4298240034514021 1.1078884002804514 0.2679100158026275 1.0 0.967009449648841 15 A6NHR9,Q8IWS0,Q13620,O00170,Q8IY37,Q15437 6 |
| Temporal pattern 0.6540037523656327 1.1069458927602585 0.2683173223891906 1.0 0.967009449648841 4 Q04637 1 |
| Truncal obesity 0.4801180895551247 1.10620294514729 0.2686386884066851 1.0 0.967009449648841 12 Q12830,Q14683,P10644,Q8IWS0,Q9UQE7 5 |
| Long nose 0.5818848029795158 1.1032795321003324 0.2699057923147823 1.0 0.967009449648841 6 Q07864,Q86W42 2 |
| Oculogyric crisis 0.5149287011062024 1.1017953771339477 0.2705506406118503 1.0 0.967009449648841 9 Q14204,Q00610,Q05639 3 |
| Epidermal acanthosis 0.5278034051674859 1.101348607138117 0.2707449636916483 1.0 0.967009449648841 7 Q06136 1 |
| Abnormality of the nasolabial region 0.6032090690625407 1.1002966255339872 0.2712029019405872 1.0 0.967009449648841 5 P21359,Q93008 2 |
| Prominent nasolabial fold 0.6032090690625407 1.1002966255339872 0.2712029019405872 1.0 0.967009449648841 5 P21359,Q93008 2 |
| Osteosarcoma 0.4076973075811884 1.0994313222132728 0.2715799747807008 1.0 0.967009449648841 21 P60866,P18077,P62899,P61313,Q07020,P08708 6 |
| Prominent occiput 0.5142820230640157 1.0984482937900086 0.2720087840984975 1.0 0.967009449648841 9 O75369,Q96J02,Q9Y617,P21333,A5YKK6 5 |
| Hypoplasia of the brainstem 0.4080614883569767 1.0980444945519816 0.2721850606181473 1.0 0.967009449648841 22 P43034,Q93008,Q6ZXV5,Q14204 4 |
| Abnormal right ventricle morphology 0.5271401737335967 1.0980293756437185 0.2721916622195428 1.0 0.967009449648841 7 Q7Z392,P21333 2 |
| Epicanthus 0.4169805337587194 1.097692533595483 0.2723387711640477 1.0 0.967009449648841 134 Q9NXE4,P55795,P27635,Q05639,P19447,P51659,Q9NR45,P21333,P43034,A5YKK6,P61313,Q86W42,Q7Z6Z7,P63241,P08708,Q9NVI1,P62266,P78347,O60701,Q8N201,P42766,P18077,O00203,P22681,P36507,Q14839,P60866,Q69YQ0,Q08J23,Q9Y4P3,P10644,P26639,P21359,P28482,Q15392,Q07020,Q06124,Q96ST3,Q9Y4A5,Q9NRZ9,Q5H8A4,O60231,P62899,P46821,Q9UID3 45 |
| Small nail 0.3948158109046451 1.0943399561540994 0.2738059074156962 1.0 0.9681080558310684 38 Q99575,Q9Y4P3,Q7Z6Z7,Q9Y4A5,Q8IY37,P63241,Q92785,Q6NW34 8 |
| Aplasia hypoplasia of the cerebellar vermis 0.3218214036199108 1.0934972521808792 0.2741755348021382 1.0 0.9681080558310684 58 Q8N201,Q9Y617,P78527,Q9Y4A5,P43034,Q69YN2,Q93008,Q69YQ0,Q9UN37,Q92785 10 |
| Renal duplication 0.5795007835389991 1.092462037278619 0.2746300678953566 1.0 0.9681080558310684 6 Q15149,Q9Y4P3 2 |
| Bruising susceptibility 0.4079753471418661 1.0921696505809453 0.2747585396317429 1.0 0.9681080558310684 25 P10644,P49257,P40763,P21333,P28482,O00170,Q15149,P35579,P49327 9 |
| Decreased lacrimation 0.6013319266148867 1.092012485488168 0.2748276133280003 1.0 0.9681080558310684 5 Q7Z392 1 |
| Abnormal cerebral vascular morphology 0.3453185899285551 1.0869194048609163 0.2770724296588771 1.0 0.9716351483686868 53 Q96RQ3,P27635,Q9Y4P3,P49257,P21359,P05165 6 |
| Oligodactyly 0.5997519238730536 1.0850422381609126 0.2779029482762958 1.0 0.9716351483686868 5 Q9UQE7,Q14683 2 |
| Abnormal circulating sulfur amino acid concentration 0.5996782013131745 1.0847170675687694 0.2780469862053432 1.0 0.9716351483686868 5 P55263 1 |
| Abnormal circulating aspartate family amino acid concentration 0.5996782013131745 1.0847170675687694 0.2780469862053432 1.0 0.9716351483686868 5 P55263 1 |
| Cerebral dysmyelination 0.5244776273172334 1.0847090330416231 0.2780505458317406 1.0 0.9716351483686868 7 P19447,P26639,P51659 3 |
| Abnormality of bladder morphology 0.5179871776406606 1.083846174462841 0.2784330082891282 1.0 0.9716351483686868 8 Q15149,Q9Y4P3 2 |
| Arnold chiari malformation 0.4211455442668246 1.0830236886698448 0.2787979086149406 1.0 0.97207245688192 16 Q9BZK7,Q9Y4P3,P21333,Q14839,Q9NVI1,P78347 6 |
| Brain neoplasm 0.8034236387400664 1.0812362783534384 0.2795920242765577 1.0 0.9739330964140438 3 P21359 1 |
| Unilateral renal agenesis 0.4096353904846413 1.0802723433912391 0.2800209215950144 1.0 0.9739330964140438 18 P35606,P42695,P54886,Q86W42 4 |
| Generalized onset seizure 0.344910933667953 1.079266795436083 0.2804688105770503 1.0 0.9739330964140438 85 P27635,Q05639,P19447,P51610,P43034,Q93008,Q9ULM3,P40763,P49591,Q08J23,Q14204,Q96C86,Q9BZI7,P26639,Q15046,P28482,Q00610,Q9HA77,Q96F86,O43776,Q9NZ01,Q14683,Q96T60,P55011,Q01105,O95239,Q96N66 27 |
| Perisylvian polymicrogyria 0.6472687478582074 1.0789725633820488 0.2805999587482857 1.0 0.9739330964140438 4 Q15042,Q9BVA1 2 |
| Abnormality of the pylorus 0.4060674638453025 1.078583666457511 0.2807733658242686 1.0 0.9739330964140438 26 Q9BZI7,O60488,Q14683,Q14738,P21333,P51610,P46109,P28482,Q96T58,P46821,Q15149,Q93008,Q9UQE7,Q6ZXV5 14 |
| Pulmonary cyst 0.6469784220582011 1.0777677500508105 0.2811374150630532 1.0 0.9739330964140438 4 P15924 1 |
| Wrist flexion contracture 0.8020652429658276 1.0762241172783875 0.2818270362230084 1.0 0.9745648811142918 3 O60231 1 |
| Neoplasm of the stomach 0.4147832712548899 1.0760025172175527 0.2819261306240128 1.0 0.9745648811142918 17 P54132,P52701,P10644,P60866,P11802 5 |
| Osteopenia 0.303985786174202 1.0754022336735236 0.282194682195052 1.0 0.9747346643160352 61 Q07864,Q7Z2Z2,Q9Y4P3,P06737,P19447,P10644,P51659,Q15436,P40763,P54886,Q9Y617,P21359,O00170,Q9NSD9,Q93008,O00469,P78347 17 |
| Lissencephaly 0.3827452448430773 1.0721425616243363 0.2836560045173419 1.0 0.9782608478773548 42 O43776,Q9H267,Q96T60,Q9Y617,P78527,P35606,P43034,Q9BVA1,P42695,Q9UPN3,Q15392,Q6ZXV5,P38606,Q14204 14 |
| Triangular face 0.4002235157092408 1.0710750081696156 0.2841357044552142 1.0 0.9785418237076812 33 Q12830,Q06124,Q14683,P54886,Q14738,P22681,Q7Z6Z7,O00469,P38606,Q9NVI1 10 |
| Abnormal 2nd finger morphology 0.7992680370264964 1.0659105286719504 0.286464089071299 1.0 0.9821937841057228 3 P27635 1 |
| Glioma 0.5010941424267656 1.0647568725191945 0.2869859661869183 1.0 0.9821937841057228 10 O60934,P21359,P52701 3 |
| Abnormal myeloid leukocyte morphology 0.3370905259508928 1.063491780366575 0.2875589907661842 1.0 0.9821937841057228 81 O14617,Q7Z2Z2,P06744,P19447,P61313,P08708,Q9NVI1,P42766,P40763,P18077,O00203,Q9Y4L1,P22681,P05165,P50851,P60866,P15924,Q08J23,P10644,P26639,P35579,Q07020,P00813,O75533,Q9NRZ9,P62899,P49327,P18206 28 |
| Chronic infection 0.5007128258877056 1.062752026771624 0.287894420236046 1.0 0.9821937841057228 10 P10644,O75533,Q9H0U3,P40763 4 |
| Skeletal dysplasia 0.3945546721509274 1.0611308323845738 0.2886304475975128 1.0 0.9821937841057228 36 Q07864,P27635,Q7Z2Z2,Q99575,Q15436,Q9NR45,P21359 7 |
| Abnormality of prothrombin 0.5070449570327682 1.0610277367122531 0.2886772962121444 1.0 0.9821937841057228 9 P49257 1 |
| Aplasia cutis congenita of scalp 0.5941692800730514 1.0604348736160294 0.2889468038428495 1.0 0.9821937841057228 5 Q14692,Q15149 2 |
| Disproportionate tall stature 0.4027196564662443 1.05956232546559 0.2893437608478462 1.0 0.9821937841057228 22 Q12830,Q9BZI7,Q8N5F7,Q5H8A4,P55011,Q15334,Q7Z6Z7,P38606 8 |
| Rickets 0.6422621625307006 1.0582091232304314 0.2899601128649516 1.0 0.9821937841057228 4 Q9Y617 1 |
| Generalized hirsutism 0.4000966812817101 1.0569717102679528 0.2905244986697677 1.0 0.9821937841057228 19 Q03164,Q14683,Q96T58,Q15042,P28482,Q06136,O00170,Q9UQE7 8 |
| Neonatal hypotonia 0.3808458635693747 1.055546744786028 0.2911753425176768 1.0 0.9821937841057228 42 Q93009,Q12830,P27635,Q9Y281,Q05639,P18583,Q14683,P51659,Q14738,P21333,Q9Y3E5,P53597,P43034,P40939,P63241,Q5JPH6 16 |
| Motor seizure 0.3443209755856205 1.0535719888211224 0.2920789192589024 1.0 0.9821937841057228 86 P27635,O14617,Q05639,P43034,Q8IY37,Q13618,O60701,P40763,P49591,Q14204,Q96C86,Q9Y617,Q15046,Q00610,Q9HA77,Q96F86,O43776,Q9NZ01,Q14683,Q96T60,O60231,P55011,Q01105 23 |
| Anal stenosis 0.6410881331271437 1.0533444212772918 0.2921831668384858 1.0 0.9821937841057228 4 O60934,Q69YQ0 2 |
| Abnormality iris morphology 0.307676242453314 1.0528305780007492 0.2924186478588126 1.0 0.9821937841057228 60 O14617,P78347,Q13428,Q9Y4P3,P52701,Q96ST3,P10644,O75533,P21333,O00203,P21359,P28482,Q12797,P53701,A6NHR9,Q7Z392,P38606,Q9NVI1 18 |
| Decreased facial expression 0.4008920587922893 1.0507435059709105 0.2933764086932053 1.0 0.9821937841057228 21 O75165,A6NHR9,P12235,Q14203,P22314,Q04637 6 |
| Abnormal proportion of cd8 positive t cells 0.7943441889889435 1.0477813231537805 0.2947393693835223 1.0 0.9821937841057228 3 P49327 1 |
| Abnormal thrombocyte morphology 0.3743401297610566 1.047539449709516 0.2948508473695552 1.0 0.9821937841057228 106 Q7Z2Z2,O15143,P21333,P50747,P61313,P08708,Q9NVI1,O60934,Q9H0U3,P40763,P18077,O00203,Q9Y4L1,P22681,P05165,P50851,P60866,P11586,Q6PGP7,P10644,P35579,Q07020,P00813,P62899,P49327 25 |
| Horseshoe kidney 0.3890914478722744 1.0467062786010064 0.2952350670745036 1.0 0.9821937841057228 38 P42766,Q07020,P18077,P98175,P51532,P62899,P61313,Q86W42,Q96GM5,P60866,P08708,Q9NVI1,Q92785 13 |
| Eclabion 0.3999718498198363 1.0460203321745545 0.2955516452132252 1.0 0.9821937841057228 30 P27635,Q9Y4P3,Q9Y617,P46821,Q69YQ0 5 |
| Menorrhagia 0.9131493506493612 1.044595173267687 0.2962101113574111 1.0 0.9821937841057228 2 P49257 1 |
| Deviation of the hallux 0.4007448346516263 1.0421425011366252 0.2973456163737593 1.0 0.9821937841057228 23 Q93009,Q12830,Q9Y4P3,P55011,Q93008,Q7Z6Z7,P78347 7 |
| Abnormality of humoral immunity 0.3570645949749906 1.0416044510379314 0.2975951042082321 1.0 0.9821937841057228 49 P54132,Q15477,P19447,P21333,P14174,O60934,Q9H0U3,P40763,Q9Y4L1,P50851,P17812,P11586,Q96BN8,Q6PGP7,P26639,P51570,P00813,O75787,P18583,P18074,P42345,P48506,Q9NRZ9,P49327 24 |
| Bone cyst 0.7926517084591523 1.041557638677978 0.2976168171913169 1.0 0.9821937841057228 3 P21359 1 |
| Abnormal ureter physiology 0.3882459194482957 1.0396922957942207 0.2984828810669349 1.0 0.9821937841057228 38 Q9H3U1,Q12830,Q9Y4P3,Q14683,P26196,P53992,Q9Y4A5,P21333,P35606,Q6KC79,Q9UQE7,Q14839,P42695,Q9NVI1,P78347 15 |
| Generalized hypopigmentation 0.5087970536646098 1.0371779946737107 0.2996529115156447 1.0 0.9821937841057228 8 O14617,O00203 2 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.6367339180619733 1.0353176754096782 0.300520577881374 1.0 0.9821937841057228 4 P21333 1 |
| Cone shaped epiphyses of the phalanges of the hand 0.6367339180619733 1.0353176754096782 0.300520577881374 1.0 0.9821937841057228 4 P21333 1 |
| Abnormal dermoepidermal junction morphology 0.790952927997285 1.0353150181564206 0.3005218184398446 1.0 0.9821937841057228 3 Q15149 1 |
| Endocarditis 0.6367071853376924 1.0352070780153433 0.3005722139835556 1.0 0.9821937841057228 4 P49327 1 |
| Limited extraocular movements 0.5143304632973602 1.0340271267714742 0.3011234818158161 1.0 0.9821937841057228 7 O95169,P51659,O75306 3 |
| Joint dislocation 0.3194884688407155 1.0321726271359115 0.3019912557007815 1.0 0.9821937841057228 72 P19447,P21333,P51571,P43034,Q93008,P38606,P78347,Q9NVI1,O75369,P49588,P53992,P54886,Q8TD16,Q9NQT5,Q9Y4P3,P10644,P26639,Q8NBU5,Q6ZXV5,Q14807,P18074,Q14683,Q14738,P46821,P55011,Q9UQE7,Q9Y3E5 27 |
| Premature ovarian insufficiency 0.4082713645010608 1.0320324746665046 0.3020569046573533 1.0 0.9821937841057228 17 O60934,P54132,P49770,Q13144,Q86W42,P49327 6 |
| Vitiligo 0.5660267923225076 1.031436242912794 0.3023362922935972 1.0 0.9821937841057228 6 P49327,P50851 2 |
| Alacrima 0.63577283600716 1.0313421520165114 0.3023803979530213 1.0 0.9821937841057228 4 Q7Z392 1 |
| Patent ductus arteriosus 0.3157582787392814 1.0281889546970964 0.303860953053034 1.0 0.9821937841057228 70 O95602,P21333,P51571,Q86W42,Q93008,P29401,P78347,Q9NVI1,Q12830,Q13428,O60488,P51532,Q69YQ0,Q92785,Q9Y4P3,Q6PGP7,P53597,Q15392,Q6ZXV5,Q06124,Q9Y4A5,P46821,Q96GM5,Q9UQE7 24 |
| Leukocytosis 0.3982419183576443 1.0274185503579505 0.3042234202085407 1.0 0.9821937841057228 22 O15143,P10644,O75533,P40763,Q9Y4L1,P61011,P22681,P49327,P00813 9 |
| Clubbing of fingers 0.6336292262946589 1.0224797991849115 0.3065538688371889 1.0 0.9821937841057228 4 P50851 1 |
| Hip dysplasia 0.3879169730657686 1.0213407112369308 0.3070930445634097 1.0 0.9821937841057228 37 Q93009,Q12830,Q7LBC6,Q9H267,Q14683,P26196,Q96T58,Q8TD16,P55011,Q6KC79,Q9UQE7,Q93008,Q7Z392,Q7Z6Z7 14 |
| Multifocal seizures 0.5849450228771099 1.019858949391233 0.307795360770021 1.0 0.9821937841057228 5 Q9HA77 1 |
| Cerebral hypoplasia 0.4791429445848948 1.0195721684213677 0.3079314100931629 1.0 0.9821937841057228 11 P35606,P42695 2 |
| Abnormal number of incisors 0.5848309150629082 1.019357747951224 0.3080331574806307 1.0 0.9821937841057228 5 P54132,Q14683 2 |
| Depletion of mitochondrial dna in muscle tissue 0.7864312455058354 1.0187203599944463 0.3083357438813063 1.0 0.9821937841057228 3 P12235 1 |
| Pancreatic hypoplasia 0.632365452896099 1.017258104972764 0.3090306610594995 1.0 0.9826157454733692 4 Q7Z2Z2,P40763 2 |
| Absent toenail 0.5106119209508705 1.0154939210813836 0.3098704428036272 1.0 0.9834157429631244 7 P28482,P15924,P46109,P21281 4 |
| Abnormality of the spinal cord 0.3384035748414633 1.015334446662079 0.3099464295696474 1.0 0.9834157429631244 53 Q9Y6X9,P48643,P21333,P14868,P78347,Q9NVI1,Q6NW34,O75369,P54886,Q08J23,Q9Y4P3,P11586,Q9Y617,P21359,Q14807,Q14692,Q06124,Q96ST3,P48506,Q5H8A4,Q15149 21 |
| Constipation 0.324635682964637 1.0136691630188863 0.3107406431666257 1.0 0.9834622662362442 76 P55795,Q9BZI7,O75165,Q9Y4P3,P60866,P52701,Q14683,P21333,P55011,Q9UID3,P12235,P05165,Q9HCK8,Q93008,P63241,Q04637,P78347,Q92785 18 |
| Osteoporosis 0.3382335838750913 1.013583094968193 0.3107817275446765 1.0 0.9834622662362442 53 P27635,Q9Y4P3,P10644,Q9Y617,P51659,P21359,O00170,P22681,P05165,P12235,Q8IY37,O00469,P78347 13 |
| Papillary thyroid carcinoma 0.4776127342528931 1.0112560607958418 0.3118938902707513 1.0 0.983508068708727 11 Q9UPY3,Q92785 2 |
| Lack of skin elasticity 0.448048456659595 1.0104995708929114 0.3122560049136025 1.0 0.983508068708727 13 P10644,P28340,Q9Y617,Q13620,O00170,Q15334 6 |
| Abnormality of the ureter 0.3500897012599576 1.0104634823360286 0.3122732866115738 1.0 0.983508068708727 50 Q9H3U1,Q12830,Q9Y4P3,Q14683,P26196,P53992,Q96T60,Q9Y4A5,P21333,P35606,Q6KC79,Q15149,Q9UQE7,Q14839,P42695,Q9NVI1,Q69YQ0,P78347 18 |
| Congenital nonbullous ichthyosiform erythroderma 0.630469875330671 1.0094304354205648 0.3127682481716647 1.0 0.983508068708727 4 P19447,P26639 2 |
| Retinal dystrophy 0.3780211100475155 1.0092518362368563 0.3128538723740277 1.0 0.983508068708727 41 P27635,Q6P2Q9,Q9UM54,Q86Y56,P53701,Q9UN37 6 |
| Abnormally low pitched voice 0.5821240527987208 1.0074741082673455 0.3137069939919332 1.0 0.9841263381973429 5 Q6KC79,Q9UQE7,Q14683 3 |
| Abnormality of upper lip vermillion 0.3793427210913489 1.0067485517933874 0.3140556239065026 1.0 0.9841263381973429 112 Q9NXE4,P27635,Q05639,P78527,P51610,P51571,P35606,Q86W42,Q93008,P63241,Q7Z6Z7,Q03164,Q12830,O60488,Q15436,O00203,Q9BZK7,P42695,P51532,Q69YQ0,Q08J23,Q92785,Q96C86,Q9BZI7,P29372,P46109,P28482,Q92974,Q00610,Q14683,P42345,Q9Y4A5,Q14738,Q5H8A4,Q96T58,P46821,Q9UID3,P35573,Q96GM5,Q7LBC6,Q9UQE7,Q9Y3E5 42 |
| Abnormal reticulocyte morphology 0.3953091988396843 1.0057845345345588 0.3145192283367921 1.0 0.9841263381973429 29 P49327,P60866,P48506,P18077,P62899,P61313,Q07020,P08708,Q15437 9 |
| Hypoplastic hippocampus 0.9021915584415662 1.0056490008414285 0.3145844437478002 1.0 0.9841263381973429 2 Q9HA77 1 |
| Colon cancer 0.4622652546787854 1.005014493949372 0.3148898707594472 1.0 0.9841263381973429 12 P10644,P52701 2 |
| Abnormal cerebellar vermis morphology 0.3085094785798666 1.0029239025005054 0.3158975789045564 1.0 0.9841263381973429 67 Q8N201,Q9Y617,P78527,Q9Y4A5,P43034,Q15334,Q69YN2,Q93008,Q69YQ0,Q9UN37,Q92785 11 |
| Progressive proximal muscle weakness 0.9013798701298752 1.0027729591556005 0.3159704185747376 1.0 0.9841263381973429 2 Q7Z392 1 |
| Abnormal hand morphology 0.3492884221700152 1.001753760972008 0.3164625344603968 1.0 0.9843969411129244 92 P27635,P78527,P21333,P51610,O00170,P61313,Q93008,P08708,Q9NVI1,Q6NW34,Q03164,O75369,P42766,O60488,P08243,P18077,Q8IWS0,Q8TD16,P60866,P51532,P15924,Q92785,Q9BZI7,Q9Y617,P46109,P21359,P28482,Q07020,Q14683,Q96ST3,Q96T60,Q5H8A4,P62899,Q96GM5,Q9UQE7 35 |
| Lymphocytosis 0.7814162897520573 1.0003538845960562 0.3171392787417417 1.0 0.984806676792236 3 O15143 1 |
| Abnormal heart valve physiology 0.3201449401455139 0.9999883567212644 0.3173161425608999 1.0 0.984806676792236 74 Q8N5F7,P21333,P53701,O00170,Q13618,P78347,P54886,P22681,P36507,P15924,O75306,Q9Y4P3,Q6PGP7,P10644,P46109,P21359,P28482,P55263,Q6ZXV5,P00813,Q06124,P49327,P46821,O95169 24 |
| Central hypothyroidism 0.4886671836943231 0.9995596968306129 0.3175236357268316 1.0 0.984806676792236 10 P27635,O14654,Q14683 3 |
| Abnormality of vitamin b12 metabolism 0.5073371330200369 0.999193367238137 0.3177010283303183 1.0 0.984806676792236 7 P49327,P11586,P51610 3 |
| Enlarged ovaries 0.6275990466201835 0.9975863112084338 0.3184800016085538 1.0 0.9860633178511944 4 Q15437 1 |
| Abnormal ilium morphology 0.4296367994305345 0.9964948031269872 0.3190097908610605 1.0 0.9860633178511944 14 Q6NW34,Q15436,Q99575,Q9NR45 4 |
| Regional abnormality of skin 0.3698215398743025 0.996340895836094 0.3190845397834456 1.0 0.9860633178511944 106 Q9NXE4,P54132,P55795,P27635,P19447,P21333,Q06136,O00170,Q7Z6Z7,P78347,P62266,P40763,P22681,P36507,Q69YQ0,P15924,Q9Y4P3,Q9Y617,Q15437,Q14683,Q96ST3,P18206,P46821,P55011,Q9UID3,Q15149,Q7Z392,O00469 28 |
| Decreased specific anti polysaccharide antibody level 0.89935064935066 0.9955884810931428 0.3194501338128996 1.0 0.9860633178511944 2 Q9H0U3 1 |
| Antinuclear antibody positivity 0.8993506493506491 0.9955884810931036 0.3194501338129187 1.0 0.9860633178511944 2 P53621 1 |
| Gray matter heterotopia 0.394152627456851 0.9946365119002256 0.3199130828053538 1.0 0.9860633178511944 23 P21333,O60231,P35606,P43034,P46821,P42695,Q6ZXV5 7 |
| Abnormal sputum 0.5790735276399264 0.9940958064942628 0.3201762267531207 1.0 0.9860633178511944 5 Q86Y56 1 |
| Cerebral white matter hypoplasia 0.5058966440600933 0.992029934433688 0.3211829232301064 1.0 0.9860633178511944 7 O43776 1 |
| Abnormal vena cava morphology 0.5058634805868187 0.991865065757328 0.3212633524854167 1.0 0.9860633178511944 7 P98175,Q7LBC6,Q86Y56 3 |
| Pseudoarthrosis 0.6260146597302855 0.9910554374950608 0.3216585110597958 1.0 0.9860633178511944 4 P21359 1 |
| Death in adulthood 0.4736306395351848 0.989643243974926 0.3223485252756002 1.0 0.9860633178511944 11 P15924,Q9UN37,P52701,Q9Y4P3 4 |
| Abnormality of the distal phalanx of the thumb 0.778319123020695 0.9890324457712654 0.3226472673559948 1.0 0.9860633178511944 3 Q69YN2,P21333 2 |
| Abnormal foramen magnum morphology 0.7783191230206943 0.989032445771264 0.3226472673559954 1.0 0.9860633178511944 3 P54886,P21333 2 |
| Flat acetabular roof 0.7783191230206815 0.9890324457712169 0.3226472673560185 1.0 0.9860633178511944 3 Q9NR45,Q14839 2 |
| Delayed puberty 0.3584771031981603 0.988406576248311 0.3229535680963273 1.0 0.9860633178511944 47 P27635,Q06124,P06737,Q14683,P40763,P21359,Q15042,Q13620,O00170,Q9UQE7,Q8IY37,Q93008,P63241 13 |
| Recurrent urinary tract infections 0.3937092548388547 0.9873965517196464 0.3234482741680082 1.0 0.9860633178511944 26 P54132,O60934,Q9Y4P3,P46109,Q9NSD9,Q86W42,Q9NVI1,P78347 8 |
| Abnormality of the synovia 0.3089126441149905 0.9871911072067352 0.3235489605021382 1.0 0.9860633178511944 68 O95602,P21333,Q9NR45,P43034,Q93008,P38606,Q9NVI1,Q6NW34,O75369,P49588,P54886,O00203,Q14839,Q9NQT5,Q8NBU5,Q14807,Q06124,Q14683,P55011,Q9UQE7,Q9Y3E5 21 |
| Neoplasm of the eye 0.4440548191158298 0.987004719723017 0.323640324842626 1.0 0.9860633178511944 13 P21359,P52701,Q15437 3 |
| Biliary cirrhosis 0.5558343742120818 0.9854385562583944 0.3244086986473067 1.0 0.9864108129875208 6 P14174 1 |
| Polyhydramnios 0.372657404185774 0.9843965963436856 0.3249205509345576 1.0 0.9864108129875208 42 P27635,Q6PGP7,Q5T440,Q96ST3,Q9Y617,P43034,P22681,Q15149,Q7LBC6 9 |
| Pollakisuria 0.7763760082787109 0.9819382921653824 0.3261302495870239 1.0 0.9864108129875208 3 P54886 1 |
| Pulmonary artery dilatation 0.4913523409513947 0.9801960577431788 0.3269893501292582 1.0 0.9864108129875208 9 Q12830,Q7Z6Z7,P55011 3 |
| Abnormality of neutrophil morphology 0.6232949565120003 0.9798548437153592 0.3271577756490587 1.0 0.9864108129875208 4 O75533,P35579 2 |
| X linked recessive inheritance 0.3607270050130281 0.9793639285201498 0.3274001934691273 1.0 0.9864108129875208 46 P27635,Q9BZI7,Q14683,P29372,Q8N5F7,P00558,Q9H0U3,P21333,P51610,P51571,P98175,Q13620,O95239,Q93008,P22314,O14654 16 |
| Arthrogryposis multiplex congenita 0.3917827853913364 0.9792494802111495 0.3274567257098693 1.0 0.9864108129875208 29 Q9NXE4,Q5T440,Q9Y617,P40763,Q15149,Q15392,O00469,P22314 8 |
| Pulmonary hemorrhage 0.5032063076866313 0.9786628797113642 0.3277465790450118 1.0 0.9864108129875208 7 P53621,P10644,P40763 3 |
| Amblyopia 0.426634563064713 0.9780434282391368 0.3280528455223459 1.0 0.9864108129875208 14 A6NHR9,P53701,P07814 3 |
| Abnormal circulating amylase level 0.6226041257090634 0.977011877892904 0.3285632720113525 1.0 0.9864108129875208 4 A5YKK6,Q7Z2Z2 2 |
| Hypoamylasemia 0.6226041257090634 0.977011877892904 0.3285632720113525 1.0 0.9864108129875208 4 A5YKK6,Q7Z2Z2 2 |
| Shuffling gait 0.490627044978449 0.9764730376497645 0.3288301028419829 1.0 0.9864108129875208 9 O75165,Q04637 2 |
| Abnormal morphology of the radius 0.4710928674279141 0.9758924545759692 0.3291177616743233 1.0 0.9864108129875208 11 O75369,P10644,P21333,P98175,Q9NVI1 5 |
| Abnormality of thyroid physiology 0.295818117463292 0.975851002503122 0.3291383059782384 1.0 0.9864108129875208 61 P27635,Q9Y4P3,Q6PGP7,Q14683,P10644,P40763,Q15046,O00170,P12235,P50851,Q93008,P00813,Q9NVI1,O14654 14 |
| Metaphyseal dysplasia 0.4904839165776042 0.9757385004456112 0.3291940679685066 1.0 0.9864108129875208 9 Q07864,Q99575 2 |
| Overriding aorta 0.5026161166304509 0.9757326245954678 0.3291969805198815 1.0 0.9864108129875208 7 P53701,Q9Y4P3 2 |
| Abnormal tracheal morphology 0.3906793721108416 0.9753122420335212 0.329405399794989 1.0 0.9864108129875208 30 Q14807,Q13428,Q9Y4P3,Q9Y4A5,P55011,Q93008,Q9NVI1,Q69YQ0,P78347 9 |
| Abnormal circulating igm level 0.4705684716868132 0.97305341105488 0.330526757244737 1.0 0.9875904984367913 11 P49327,P00813,P50851 3 |
| Branchial fistula 0.5739234726794138 0.9715466423260308 0.3312761383654357 1.0 0.9882663577026632 5 Q13428,P46109 2 |
| Wide nasal bridge 0.3964435160657691 0.9700045780707612 0.3320442101684686 1.0 0.9890645443100484 127 Q15477,P27635,O95602,Q6P2Q9,P78527,P21333,P53701,P61313,Q93008,Q7Z6Z7,P08708,P38606,P78347,Q03164,Q12830,Q13428,O75369,Q8N201,P42766,P53992,Q15436,P40763,P18077,O00203,P98175,Q9Y4L1,P60866,Q69YQ0,Q08J23,Q9Y4P3,Q6PGP7,P26196,P29372,P10644,P28482,Q92620,Q07020,Q06124,P18583,P18074,Q96ST3,O43395,Q9Y4A5,Q5H8A4,Q96T58,P62899,P55011,Q01105,Q15042,P42704 50 |
| Prominent nose 0.3989992034030223 0.9697714254888922 0.3321604389352299 1.0 0.9890645443100484 17 O60934,Q12830,P54132,Q12797,Q13620,Q93008,Q08J23 7 |
| Abnormal pharynx morphology 0.3891476469863753 0.9692245663172684 0.3324331565217022 1.0 0.9890645443100484 31 P54132,O60934,Q13428,P29372,Q9H0U3,P40763,Q86Y56,P61011,P50851,Q96GM5,Q93008,P51532,P00813,Q92785 14 |
| Abnormality of the upper respiratory tract 0.3257785292921756 0.9690607895305235 0.3325148598162923 1.0 0.9890645443100484 79 P27635,Q7Z2Z2,P21333,Q14203,Q93008,O60934,Q9H0U3,P40763,P50851,Q92804,P51532,Q69YQ0,Q92785,P29372,P10644,P21359,Q86Y56,P52701,A6NHR9 19 |
| Lower limb asymmetry 0.5731421283719798 0.9681298857383928 0.3329795059507958 1.0 0.9890645443100484 5 P28482,Q93008 2 |
| Abnormal hair whorl 0.4248902793093657 0.9673409748636336 0.3333736064965049 1.0 0.9890645443100484 14 Q12830,Q7Z6Z7,P55011,P21333 4 |
| Abnormal renal collecting system morphology 0.5515034372698926 0.9659479994163568 0.3340702022122168 1.0 0.9890645443100484 6 P53597,P28482,P41252 3 |
| Tricuspid valve prolapse 0.8908279220779245 0.9655051517575224 0.3342918568673301 1.0 0.9890645443100484 2 P53701 1 |
| Subglottic stenosis 0.8908279220779219 0.9655051517575132 0.3342918568673347 1.0 0.9890645443100484 2 Q7Z2Z2 1 |
| Downslanted palpebral fissures 0.3727724240049472 0.9649285981158516 0.3345805762496876 1.0 0.9890645443100484 110 Q9NXE4,O95319,O95602,Q05639,P21333,P51610,P43034,Q12797,Q9HCK8,Q93008,P63241,Q7Z6Z7,P38606,Q03164,Q12830,Q13428,O60488,P49588,P53992,P22681,P36507,Q69YQ0,Q92785,Q14204,Q9BZI7,Q6PGP7,P26196,O14646,P21359,P28482,Q92974,Q00610,Q15392,Q06124,P18583,Q14683,P42345,Q96ST3,Q14738,Q5H8A4,P55011,Q13620 42 |
| Intellectual disability profound 0.3791042472357913 0.9642764881516486 0.3349073254213668 1.0 0.9890645443100484 38 Q12756,P26640,Q9BZI7,Q05639,P17480,O60488,Q5H8A4,P51610,P43034,Q01105,Q00610,Q13813,Q93008,P38606,Q14204 15 |
| Aortic regurgitation 0.3892333045741733 0.963125942134154 0.3354843244216456 1.0 0.9890645443100484 22 Q6PGP7,P54886,P46109,P21333,P46821,P49327,Q6ZXV5 7 |
| Chronic mucocutaneous candidiasis 0.5719922670979513 0.9631038013699178 0.3354954342923331 1.0 0.9890645443100484 5 P40763 1 |
| Nonimmune hydrops fetalis 0.3901721066799015 0.9619191095484262 0.336090238593357 1.0 0.989137215368734 25 P60866,Q9HA77,P18077,P62899,P61313,Q07020,P08708 7 |
| Contractures of the joints of the lower limbs 0.3700489829683658 0.9618843543893552 0.3361076985348561 1.0 0.989137215368734 42 P27635,Q5JTV8,Q9Y617,P40763,P21333,O60231,Q15149,P63241,O00469,P15924 10 |
| Rod cone dystrophy 0.3880749876823016 0.9610406222354952 0.3365317431516059 1.0 0.989137215368734 31 Q86Y56,P27635,Q9UM54 3 |
| Broad face 0.7706049533089739 0.9609103142753532 0.3365972642559947 1.0 0.989137215368734 3 O75369,P21333 2 |
| Spina bifida 0.3899046891999668 0.9602364795730696 0.3369362109507647 1.0 0.989137215368734 27 O75369,Q06124,Q9Y4P3,Q96ST3,Q9Y617,P21333,P14868,P21359,Q9NVI1,Q08J23,P78347 11 |
| Abnormality of vitamin a metabolism 0.6183964576284473 0.9597153121512256 0.33719851468503 1.0 0.989137215368734 4 Q7Z2Z2,Q9NSD9 2 |
| High forehead 0.3182610417386545 0.9581647121912744 0.337979708179833 1.0 0.989654491585246 75 O95319,Q05639,P51659,P24928,P43034,Q86W42,Q7Z6Z7,P38606,P78347,Q03164,Q12830,P49588,P22681,P36507,Q9BZK7,Q9BZI7,Q9Y4P3,P28482,Q00610,Q06124,Q96ST3,Q5H8A4,P55011,Q13620 24 |
| Abnormal corneal epithelium morphology 0.406504151513252 0.9568307086588116 0.338652709696307 1.0 0.9896619406829849 15 P49327,Q15149,P50747 3 |
| Urethral obstruction 0.4388364687763615 0.9563935581817954 0.3388734380411571 1.0 0.9896619406829849 13 Q15149,Q9Y4P3,P21333 3 |
| Oral ulcer 0.5702324596085935 0.9554167466177668 0.3393669884874661 1.0 0.9904521437985052 5 P49327,Q7Z2Z2 2 |
| Abnormality of neuronal migration 0.3896504225577633 0.953429038473904 0.3403727343241427 1.0 0.9907328551429696 123 Q9NXE4,Q5T440,Q05639,P51659,P78527,P21333,P35606,P43034,Q8IY37,Q93008,P38606,O60934,P08243,P49591,P42695,Q9UPN3,P51532,Q9UN37,Q08J23,Q14204,Q92785,Q96C86,Q9Y617,Q00610,Q15392,Q9BVA1,Q96F86,Q6ZXV5,O43776,Q9H267,Q9NZ01,Q96T60,Q9UEY8,Q9Y4A5,O60231,Q15042,P46821,P55011,Q01105,Q13620,Q96N66 41 |
| Abnormal circulating proteinogenic amino acid concentration 0.3877550976209566 0.9526311039899772 0.3407770120088846 1.0 0.9907328551429696 22 Q9Y617,Q96RQ3,P55263,P05165 4 |
| Abnormality of the periorbital region 0.3094354795451943 0.9524902746178427 0.340848395865414 1.0 0.9907328551429696 58 P21333,P51610,O00170,Q9HCK8,Q93008,P78347,P62266,O60488,Q15436,P98175,Q8IWS0,P36507,Q08J23,Q9BZI7,Q9Y4P3,Q6PGP7,O14646,O43707,A6NHR9 19 |
| Non midline cleft lip 0.6160879464483098 0.9502402824374968 0.3419901746932163 1.0 0.9907328551429696 4 Q9NXE4 1 |
| Paronychia 0.7669508729191952 0.9476297989036429 0.3433179505172208 1.0 0.9907328551429696 3 P54132,P40763 2 |
| Abnormality of the periungual region 0.7669508729191952 0.9476297989036429 0.3433179505172208 1.0 0.9907328551429696 3 P54132,P40763 2 |
| Supernumerary nipple 0.4784796182817024 0.9463794353335312 0.3439550905176434 1.0 0.9907328551429696 10 P26196,Q9Y4A5,Q14738 3 |
| External genital hypoplasia 0.3505597244557632 0.9463613109081686 0.3439643316155707 1.0 0.9907328551429696 96 Q07864,P27635,Q6P2Q9,O60832,P19447,P19022,P78527,P43034,P53701,Q86W42,Q8IY37,Q7Z6Z7,P38606,P78347,Q93009,Q13428,Q8IWS0,Q9BZK7,Q14839,Q9Y4P3,P26196,Q9Y617,P55265,Q92620,P22314,Q06124,P18074,Q14683,Q96ST3,Q96T60,O43395,Q9Y4A5,Q8TCJ2,Q96T58,A6NHR9,Q15042,Q6KC79,Q13620,Q9UQE7 39 |
| Polygenic inheritance 0.6147988873308936 0.9449542005091603 0.344682258593133 1.0 0.9907328551429696 4 O60934 1 |
| Lethargy 0.2931826867007593 0.9440485292172044 0.3451448497610525 1.0 0.9907328551429696 61 Q96RQ3,Q14683,Q07020,P49770,P18077,P50747,P62899,Q13144,P61313,P05165,P60866,P08708,O75306 13 |
| Tongue atrophy 0.7658880913337474 0.943772336104583 0.3452860000919551 1.0 0.9907328551429696 3 Q9NQT5 1 |
| Abnormal carotid artery morphology 0.451120306543524 0.9422971599018898 0.3460405218310978 1.0 0.9907328551429696 12 P21359,Q9Y4P3 2 |
| Abnormality of neutrophil physiology 0.613997409742275 0.9416693068661828 0.3463619739360992 1.0 0.9907328551429696 4 Q7Z2Z2,P06744 2 |
| Limited elbow movement 0.3872174587585348 0.939934243569964 0.3472512909931233 1.0 0.9907328551429696 26 Q14807,O75369,Q06124,Q14683,P54886,P21333,P28482,Q9UQE7,O00469,P22314 10 |
| Abnormal palmar dermatoglyphics 0.3464399358077935 0.9398011565714866 0.3473195654722798 1.0 0.9907328551429696 49 Q9NXE4,P27635,Q14683,P46821,Q9UID3,P36507,Q69YQ0,P62266 8 |
| Toe clinodactyly 0.3890488840594671 0.939003355869538 0.347729021355444 1.0 0.9907328551429696 18 Q12830,Q9BZI7,O60488,P21333,P51610,P55011,Q93008,Q7Z6Z7 8 |
| Low hanging columella 0.4831091530073543 0.9379655351377068 0.3482621221201203 1.0 0.9907328551429696 9 Q7LBC6,Q86W42 2 |
| Phthisis bulbi 0.6130613485959298 0.9378345430274504 0.3483294461682358 1.0 0.9907328551429696 4 Q9UQE7,Q14683 2 |
| Adenomatous colonic polyposis 0.7632967925294347 0.9343769987822867 0.3501094582644666 1.0 0.9907328551429696 3 Q07864,P20585 2 |
| Synostosis involving bones of the upper limbs 0.3856598235197159 0.9338820767523286 0.3503647252205908 1.0 0.9907328551429696 23 O75369,Q06124,Q9Y4P3,Q14683,P21333,P22681,Q9UQE7,P78347 8 |
| Facial hypertrichosis 0.3384319749409615 0.933803059706684 0.3504054909300276 1.0 0.9907328551429696 51 Q03164,Q12830,O60701,Q14683,P19022,Q9NR45,Q96T58,A6NHR9,Q69YN2,Q15042,O00170,Q13620,Q6KC79,P46821,Q9UQE7,Q08J23,P62266 17 |
| Aplasia hypoplasia involving bones of the feet 0.342099425001995 0.9328607950838524 0.3508918467764799 1.0 0.9907328551429696 50 P21333,Q93008,Q7Z6Z7,Q93009,Q12830,Q03164,O75369,Q8IWS0,Q9BZK7,Q69YQ0,Q08J23,P26196,P10644,P00813,P18583,Q14683,Q9Y4A5,Q5H8A4,Q96T58,P55011,Q13620,Q9UQE7 22 |
| Urethral stenosis 0.4494052989482469 0.9326861921498908 0.3509820161562611 1.0 0.9907328551429696 12 Q15149,Q9Y4P3,P21333 3 |
| Abnormal epidermal morphology 0.4191673279104253 0.9323264008705529 0.3511678677986414 1.0 0.9907328551429696 14 Q06136 1 |
| Dystrophic fingernails 0.4819806221094151 0.9321990865570436 0.3512336474587756 1.0 0.9907328551429696 9 Q12756,P19447,P26639,P40763,P36507 5 |
| Leukopenia 0.3727736145501037 0.928124326078822 0.3533430824200554 1.0 0.9907328551429696 39 Q7Z2Z2,P46777,O60832,P11766,P61011,P61313,P08708,Q9NVI1,P42766,P40763,P18077,Q9BZK7,P60866,P22033,P10644,Q07020,Q9NP81,P62899,Q14980 19 |
| Abnormality of pancreas physiology 0.3849418431852383 0.92807574380328 0.3533682808722937 1.0 0.9907328551429696 29 Q7Z2Z2,P53985,P48506,P05165,P49327,P14174 6 |
| Large beaked nose 0.563717507859343 0.9270161220937796 0.3539181636684043 1.0 0.9907328551429696 5 Q12797,P55265 2 |
| Impaired tandem gait 0.4618544913082517 0.92600739790096 0.3544421356730143 1.0 0.9907328551429696 11 P26196,Q12830,Q7Z6Z7,P55011 4 |
| Abnormal shape of the palpebral fissure 0.4865756727496302 0.9250204590276124 0.3549552654200516 1.0 0.9907328551429696 8 P55795,O14646,Q9NVI1 3 |
| Athetosis 0.433365641033555 0.9244235197274367 0.3552658538625755 1.0 0.9907328551429696 13 Q7Z392,P07814 2 |
| Abnormal cortical bone morphology 0.4013781276953968 0.923962558879577 0.3555058098137644 1.0 0.9907328551429696 15 P21359,P42695,P21333 3 |
| Abnormality of the choanae 0.3847589308570089 0.9224526922569708 0.3562924957229496 1.0 0.9907328551429696 27 O60934,Q13428,O95602,Q14683,P46109,A6NHR9,P28482,P55011,Q93008,Q9UQE7,Q9NVI1 11 |
| Hypermetropia 0.3677662647307913 0.9220002952603528 0.3565284216526663 1.0 0.9907328551429696 41 P27635,P07814,Q9Y4P3,Q93008,Q92785 5 |
| Malabsorption 0.3676951489630529 0.9213997288006228 0.3568417703120699 1.0 0.9907328551429696 41 Q7Z2Z2,P52701,Q9Y4P3,P18074,P42345,P48506,P49327,Q9NRZ9,P21333,Q9Y4L1,P61011,P22681,P60866,Q9Y3E5,P14174,P78347,Q08J23 17 |
| Abnormal morphology of the great vessels 0.4047175743398203 0.921393371283726 0.3568450883071941 1.0 0.9907328551429696 137 P27635,O95602,Q8N5F7,P21333,P51571,P53701,P61313,Q86W42,Q93008,P29401,Q7Z6Z7,P08708,Q9NVI1,P78347,Q12830,Q13428,O75369,P42766,O60488,P54886,P18077,P98175,P22681,Q14839,P60866,P51532,Q69YQ0,Q92785,Q9Y4P3,Q6PGP7,P46109,P21359,Q86Y56,P53597,P28482,P55263,Q15392,Q07020,Q6ZXV5,Q06124,Q14683,Q9Y4A5,P62899,P46821,P55011,Q96GM5,Q7LBC6,Q9UQE7 48 |
| Narrow vertebral interpedicular distance 0.7596880841387235 0.92131719364135 0.3568848470150059 1.0 0.9907328551429696 3 P10644 1 |
| Vertebral arch anomaly 0.7596880841387235 0.92131719364135 0.3568848470150059 1.0 0.9907328551429696 3 P10644 1 |
| Early onset of sexual maturation 0.3798914870500438 0.9211401938127588 0.3569772377089095 1.0 0.9907328551429696 34 Q9Y4P3,Q96T60,Q7Z6Z7,P21359,P55011,O00170,P63241,P78347 8 |
| Abnormal sclera morphology 0.3837655739190446 0.920410576321298 0.3573582438150531 1.0 0.9907328551429696 23 Q9H3U1,P18583,P06132,P10644,P40939,Q9UN37,P62266 7 |
| Radial deviation of the hand or of fingers of the hand 0.4856447823697477 0.9203499170443986 0.3573899316017748 1.0 0.9907328551429696 8 Q96ST3,Q06124,P21333 3 |
| Lacrimation abnormality 0.4326139953810586 0.9200418003448751 0.357550915933752 1.0 0.9907328551429696 13 P55011,Q7Z392,Q9Y4P3 3 |
| Albinism 0.8778409090909162 0.9199727643423438 0.3575869920155572 1.0 0.9907328551429696 2 O14617 1 |
| Abnormality of hair texture 0.3625945539818963 0.9194650981607196 0.357852353051419 1.0 0.9907328551429696 43 P55795,Q06124,Q6PGP7,P18583,P18074,P19447,P26639,Q15436,Q96ST3,P42345,P21333,P22681,P36507,Q93008,P15924,Q08J23,P38606,P62266 18 |
| Abnormal circulating amino acid concentration 0.3795835759831623 0.9187400854336004 0.3582315376166995 1.0 0.9907328551429696 34 Q96RQ3,Q6PGP7,Q9Y617,Q7L0Y3,P11498,P05165,P55263 7 |
| Hypoplasia of penis 0.329488307572012 0.9187123059648372 0.3582460714163931 1.0 0.9907328551429696 84 Q07864,Q6P2Q9,P19022,P78527,P43034,P53701,Q86W42,Q8IY37,Q7Z6Z7,P38606,P78347,Q93009,Q13428,Q8IWS0,Q9BZK7,Q14839,Q9Y4P3,P26196,P55265,Q92620,P22314,Q06124,P18074,Q14683,Q96ST3,Q96T60,O43395,Q9Y4A5,Q8TCJ2,Q96T58,A6NHR9,Q15042,Q6KC79,Q13620,Q9UQE7 35 |
| Long foot 0.4849038186979065 0.9166342096271628 0.359334351741805 1.0 0.9907328551429696 8 P21359,Q9BZI7,P08243,P21333 4 |
| Mild microcephaly 0.5404009002003134 0.9161635572648268 0.3595811163616966 1.0 0.9907328551429696 6 Q69YN2,Q4G0J3,Q86W42 3 |
| Nasolacrimal duct obstruction 0.6077206336595771 0.9159922582388104 0.3596709554354214 1.0 0.9907328551429696 4 Q9UQE7,Q13428 2 |
| Decreased cd4 cd8 ratio 0.757655875978359 0.9139756025246222 0.3607296656364163 1.0 0.9907328551429696 3 Q9H0U3 1 |
| Peripheral pulmonary artery stenosis 0.4843400676013152 0.9138083267968876 0.3608175703036895 1.0 0.9907328551429696 8 Q6PGP7,Q9Y4P3 2 |
| Hernia 0.3595140515963659 0.9134569560657784 0.3610022620547295 1.0 0.9907328551429696 104 P27635,P19447,P21333,P24928,P43034,P53701,P38606,Q9NVI1,P78347,O75369,P12004,P54886,Q9NSD9,P51532,Q69YQ0,Q92785,Q9Y4P3,Q6PGP7,P26639,P46109,P28482,Q8NBU5,Q6ZXV5,P22314,Q14683,Q96ST3,Q96T60,Q9Y4A5,Q9NRZ9,Q5H8A4,A6NHR9,P46821,Q13620,Q96GM5,Q7LBC6,Q9UQE7,O00469 37 |
| Duplication of hand bones 0.3643846191674852 0.913291342988266 0.3610893341701324 1.0 0.9907328551429696 42 P54132,O75369,P42766,Q07020,Q5H8A4,P21333,P18077,P98175,P62899,P61313,P60866,P08708 12 |
| Hyposmia 0.4457454985421238 0.9122171992799936 0.3616543916907111 1.0 0.9907328551429696 12 O75165,Q06124,P26196,A6NHR9,Q04637 5 |
| Intellectual disability severe 0.373622399587099 0.9120216957556108 0.3617572966781659 1.0 0.9907328551429696 114 P27635,Q05639,P17480,Q9NR45,P51610,P35606,P43034,Q86W42,Q93008,Q13618,P12004,O60488,P40763,P49591,Q8IWS0,Q13813,P42695,P51532,Q9UN37,Q08J23,Q14204,Q92785,O75306,Q96C86,Q9BZI7,P53597,Q00610,Q96F86,Q9NZ01,Q14683,Q96T60,Q9H9P8,Q5H8A4,Q15042,P55011,Q01105,Q13620,Q96GM5,Q9UQE7,Q96N66 40 |
| Decreased circulating iga level 0.4838335670876136 0.9112702848076172 0.3621529791855866 1.0 0.9907328551429696 8 P54132,P42345,P00813,P50851 4 |
| Congenital malformation of the great arteries 0.3270684990753632 0.9092629365624684 0.3632113497662077 1.0 0.9907328551429696 83 O95602,P21333,P51571,Q86W42,Q93008,P29401,Q9NVI1,P78347,Q12830,Q13428,O60488,P98175,Q14839,P51532,Q69YQ0,Q92785,Q9Y4P3,Q6PGP7,P46109,Q86Y56,P53597,P28482,Q15392,Q6ZXV5,Q06124,Q9Y4A5,P46821,Q96GM5,Q9UQE7 29 |
| Gonadal dysgenesis 0.4771120257245028 0.9073684842273344 0.3642119696561345 1.0 0.9907328551429696 9 P19447,P26639,P51659,Q8IY37 4 |
| Neoplasm of the skeletal system 0.3765959103367735 0.9053286268045942 0.3652913149834877 1.0 0.9907328551429696 35 Q13428,P42766,P52701,Q07020,P10644,P18077,P62899,P61313,P60866,Q92804,P08708 11 |
| Pelvic girdle muscle weakness 0.5377703596683585 0.9044110774491269 0.3657774664759734 1.0 0.9907328551429696 6 A6NHR9,Q15149 2 |
| Abnormal cardiac atrium morphology 0.3850887401975906 0.9035468944883652 0.3662357115534493 1.0 0.9907328551429696 123 P55795,P27635,Q8N5F7,P53701,P61313,Q86W42,Q93008,Q13618,P08708,P29401,P38606,Q9NVI1,P78347,P42766,P18077,P98175,P36507,Q14839,P60866,P51532,Q69YQ0,Q92785,Q9BZI7,Q9Y4P3,Q6PGP7,P46109,P21359,Q86Y56,P53597,P28482,P55263,Q07020,Q06124,Q9H267,Q14683,Q9Y4A5,Q5H8A4,P62899,Q96GM5 39 |
| Congenital contracture 0.3763637209822254 0.9035053292785106 0.3662577611090101 1.0 0.9907328551429696 35 Q9NXE4,Q9H267,Q5T440,Q9Y617,P40763,Q8NBU5,Q15149,Q15392,O00469,P22314 10 |
| Gingival bleeding 0.4575696623937813 0.902974633861782 0.3665393577417357 1.0 0.9907328551429696 11 P49257,P40763 2 |
| Cns demyelination 0.4140097642876379 0.9009163799868573 0.367632781411972 1.0 0.9907328551429696 14 P42704,Q9H9P8,Q13144,P49770 4 |
| Epileptic encephalopathy 0.3804305401485732 0.9008929839132864 0.367645221973641 1.0 0.9907328551429696 22 O60701,Q05639,P49588,P27708,P43034,Q9HA77,P38606 7 |
| Aplasia hypoplasia of the fibula 0.4874347417695597 0.9006656111871748 0.36776613815768 1.0 0.9907328551429696 7 Q9NWH9,P21333 2 |
| Patchy palmoplantar hyperkeratosis 0.8717532467532624 0.8987704128645355 0.36877496272367 1.0 0.9907328551429696 2 Q06136 1 |
| Hallux valgus 0.4136003707567239 0.898429574160568 0.3689565755382853 1.0 0.9907328551429696 14 Q9Y4P3,Q93008,P78347 3 |
| Dilated third ventricle 0.7527405602923196 0.8962585233771848 0.3701147056368707 1.0 0.9907328551429696 3 Q93009,P26358 2 |
| Aplasia hypoplasia of the gallbladder 0.7515225334957288 0.8918772368117751 0.3724587369194125 1.0 0.9907328551429696 3 A5YKK6,Q69YQ0 2 |
| Severe demyelination of the white matter 0.751500590660365 0.8917983413665589 0.3725010309021515 1.0 0.9907328551429696 3 Q9H9P8 1 |
| Microvesicular hepatic steatosis 0.4738406319732443 0.89072915507764 0.3730744897991838 1.0 0.9907328551429696 9 Q9HA77,Q9UN37,Q9H9J2 3 |
| Low set nipples 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Abnormality of dna repair 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Abnormal bronchus physiology 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Concave nail 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Tiger tail banding 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Bronchospasm 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Abnormal mean corpuscular hemoglobin concentration 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Increased mean corpuscular hemoglobin concentration 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Numerous pigmented freckles 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Defective dna repair after ultraviolet radiation damage 0.7511165245635345 0.8904176265491255 0.3732416811688779 1.0 0.9907328551429696 3 P19447,P26639 2 |
| Abnormal proximal phalanx morphology of the hand 0.7507105156313458 0.8889584287274978 0.3740254219756367 1.0 0.9910537347547752 3 Q14807,O75369 2 |
| Abnormality of the musculature of the lower limbs 0.3759949762628697 0.8887171052545598 0.3741551357910306 1.0 0.9910537347547752 19 O60231,P43243,Q15149,O14979,Q7Z392,Q14204 6 |
| Receptive language delay 0.4672694452924775 0.8882313117079502 0.3744163391267707 1.0 0.9911545759243836 10 Q12830,Q7Z6Z7,P55011 3 |
| Bone marrow hypocellularity 0.3773987957894891 0.8848789960887533 0.3762218974482727 1.0 0.9933551022564088 21 O60934,Q7Z2Z2,O60832,O75533,O76094,P61011,P49327,Q9NVI1 8 |
| Severe global developmental delay 0.3212632408717151 0.8827677568056828 0.3773617647337166 1.0 0.9933551022564088 54 Q8IYI6,Q12830,O60701,O14617,Q8N201,Q14683,P26196,Q15046,Q5H8A4,P55011,Q92979,Q9UID3,P55263,O15121,Q9H270,Q9BZK7,Q7Z6Z7,Q9UN37 18 |
| Long philtrum 0.346363366455463 0.8822983644826846 0.3776154806679757 1.0 0.9933551022564088 97 P27635,P51659,P78527,P51610,A5YKK6,Q93008,Q7Z6Z7,P38606,P78347,Q03164,Q12830,Q8N201,O60488,P53992,Q15436,O00203,P22681,P36507,Q69YQ0,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,Q15046,P21359,P28482,Q92974,Q00610,Q14683,P42345,Q96ST3,Q14738,Q96T58,P55011,Q9UQE7 35 |
| Fibroadenoma of the breast 0.8668831168831166 0.8818785464207368 0.3778424897568313 1.0 0.9933551022564088 2 P49327 1 |
| Plantar hyperkeratosis 0.3789589724874887 0.8801020849368019 0.3788040097745924 1.0 0.9933551022564088 26 Q06136,P36507,Q15149,Q7Z392,P15924,Q15437 6 |
| Ocular albinism 0.747868453105955 0.878755751984569 0.3795337224510411 1.0 0.9933551022564088 3 O14617,O00203 2 |
| Abnormal forearm bone morphology 0.3942666422897105 0.8786336776480175 0.3795999294791081 1.0 0.9933551022564088 15 O75369,P10644,P21333,P98175,Q9NVI1 5 |
| Hepatocellular carcinoma 0.3942412493107923 0.8784724394655442 0.379687387907359 1.0 0.9933551022564088 15 P60866,P49327,P52701,Q9NWH9 4 |
| Papilloma 0.4769796436825558 0.8770107457872587 0.3804808014453422 1.0 0.9933551022564088 8 P20585,P19447,Q15437 3 |
| Abnormality of the vestibulocochlear nerve 0.86525974025974 0.8762623165135427 0.3808874460296816 1.0 0.9933551022564088 2 P10644 1 |
| Neoplasm of the ear 0.86525974025974 0.8762623165135427 0.3808874460296816 1.0 0.9933551022564088 2 P10644 1 |
| Neoplasm of the inner ear 0.86525974025974 0.8762623165135427 0.3808874460296816 1.0 0.9933551022564088 2 P10644 1 |
| Cerebellar hypoplasia 0.3502387235392807 0.8756961458313722 0.3811952411687789 1.0 0.9933551022564088 100 Q9NXE4,P55795,P27635,P78527,P21333,P43034,Q8IY37,Q93008,P38606,Q8N201,P08243,P98175,P36507,Q9UPN3,P51532,Q69YQ0,Q9UN37,Q14204,Q92785,Q9Y617,Q69YN2,Q9BVA1,Q9HA77,Q9Y4A5,Q5H8A4,Q15042,Q9UID3,Q96GM5 28 |
| Thick lower lip vermilion 0.35202551133031 0.8743810220752913 0.3819107889808317 1.0 0.9933551022564088 45 O60701,Q9BZI7,Q06124,Q9Y4P3,Q96ST3,Q9NR45,P51610,P51532,Q13620,O00170,P22681,Q93008,Q7Z6Z7,Q92785,P78347,P62266 16 |
| Neutropenia in presence of anti neutropil antibodies 0.5309844186655635 0.8741801734192057 0.3820201415273698 1.0 0.9933551022564088 6 P49327 1 |
| Abnormality of somatosensory evoked potentials 0.7465304257418552 0.8739596040849226 0.3821402531679339 1.0 0.9933551022564088 3 Q9ULM3 1 |
| Curly hair 0.4519601282969184 0.8729358561152379 0.3826980410889899 1.0 0.9941197067352592 11 P55795,Q93008,P18583,Q6PGP7 4 |
| Hypoplastic toenails 0.3769273101603879 0.8720536088224531 0.3831791326004543 1.0 0.99438479004878 23 Q9Y4P3,P63241,P51532,Q08J23,P78347,Q92785 6 |
| Abnormality of iron homeostasis 0.5962336266301175 0.8692482551757963 0.3847113587131665 1.0 0.99438479004878 4 Q15477,Q6PGP7 2 |
| Simplified gyral pattern 0.3772168218484376 0.8686208744801218 0.3850545330301591 1.0 0.99438479004878 28 Q9NXE4,Q96T60,Q9Y617,P78527,P08243,P35606,Q13620,P51532,Q92785 9 |
| Overlapping fingers 0.549805214884312 0.8667171490724739 0.3860970068487686 1.0 0.9948514930855342 5 P78527,P21333 2 |
| Aplastic hypoplastic toenail 0.3744766680897318 0.8639433043235311 0.3876190364680818 1.0 0.9958379178665236 32 P23786,Q9Y4P3,P21281,O60832,Q15022,Q14738,P46109,P51532,Q92785,P28482,Q96GM5,Q9NX24,P63241,P15924,P78347,Q08J23 16 |
| Abnormal circulating hormone concentration 0.3067242739708852 0.8625073849646162 0.388408370994568 1.0 0.996359805243503 73 Q07864,Q7Z2Z2,P53985,Q6P2Q9,P51659,P49770,P61011,O00170,Q13144,Q8IY37,Q93008,Q9NVI1,Q03164,P10644,P51570,P21359,Q92620,O14654,Q14683,Q96ST3,O43395 21 |
| Abnormality of bone marrow cell morphology 0.3477132944484959 0.8617490189927923 0.3888256446290685 1.0 0.996359805243503 46 O60934,Q7Z2Z2,P49327,P11586,P10644,O76094,P40763,P22681,P05165,P50851,Q07020,Q9NVI1 12 |
| Elevated circulating parathyroid hormone level 0.7427898359975369 0.8605767274092212 0.3894712081531502 1.0 0.996359805243503 3 P21359 1 |
| Postural instability 0.4222707243083733 0.8600429244010078 0.3897653814440187 1.0 0.996359805243503 13 O75165,Q96T60,P35251,P54886,Q6Y7W6,Q04637 6 |
| Talipes equinovarus 0.3270179431757306 0.8594990957661296 0.3900652186669184 1.0 0.996359805243503 52 O75369,Q8N5F7,P53992,P51659,Q9Y617,P54886,P21333,Q5H8A4,P98175,Q8TD16,P28482,Q8NBU5,O60231,O00469,Q9Y3E5,Q15392,Q6ZXV5,P38606 18 |
| Abnormality of female external genitalia 0.3758209344174917 0.8584406741548655 0.3906491760668713 1.0 0.9972779540741624 28 Q14683,P10644,A6NHR9,Q15042,P53701,Q8IY37,Q15392,Q69YQ0,Q08J23 9 |
| Arterial stenosis 0.4613863163614107 0.8579043449818831 0.3909452847966999 1.0 0.9974606289873296 10 Q9Y4P3 1 |
| Mediastinal lymphadenopathy 0.8595779220779377 0.8566643750957826 0.3916303970966046 1.0 0.9985188854837724 2 Q9H0U3 1 |
| Dermal atrophy 0.3744323160025904 0.8545269128850269 0.392813104104782 1.0 0.9985188854837724 23 P18074,P19447,P28340,P10644,Q96T58,Q15334,P53701,O00170,Q13620,Q15149,Q15392 11 |
| Facial cleft 0.5469098663832093 0.8542365048827434 0.392973960406868 1.0 0.9985188854837724 5 Q69YQ0 1 |
| Trichorrhexis nodosa 0.7409663012586298 0.8540664065592378 0.3930681959980366 1.0 0.9985188854837724 3 Q6PGP7,P18074 2 |
| Intractable diarrhea 0.7409663012586135 0.8540664065591789 0.3930681959980693 1.0 0.9985188854837724 3 Q15149,Q6PGP7 2 |
| Abnormality of the columella 0.4481176891887833 0.8524423625013872 0.3939686163794043 1.0 0.9985188854837724 11 Q7LBC6,Q86W42 2 |
| Ocular anterior segment dysgenesis 0.30247375791486 0.8518376565483788 0.3943042028491135 1.0 0.9985188854837724 71 P78347,P42766,Q9Y4P3,Q07020,P19447,P54886,P21333,P18077,P21359,P62899,P61313,P36507,P60866,P08708,Q9UN37,Q9NVI1 16 |
| Neoplasm of the nervous system 0.3651981285287383 0.8513710107422825 0.3945632899233169 1.0 0.9985188854837724 38 Q07864,O60934,Q9UPY3,P52701,P10644,Q15046,P21359,Q01844,P60866,P51532,Q15437 11 |
| Abnormal thyroid hormone level 0.857954545454553 0.8510822492086549 0.3947236651863337 1.0 0.9985188854837724 2 Q93008 1 |
| Abnormal thyroid stimulating hormone level 0.857954545454545 0.8510822492086273 0.394723665186349 1.0 0.9985188854837724 2 P10644 1 |
| Shield chest 0.5460392524473168 0.8504887280172972 0.3950534246822947 1.0 0.9985188854837724 5 Q99575 1 |
| Abnormal aortic valve physiology 0.3726092315946162 0.849853959552217 0.3954062853592877 1.0 0.9985188854837724 32 Q9Y4P3,Q6PGP7,P54886,P21333,P46109,P46821,P22681,P49327,Q6ZXV5,P78347 10 |
| Camptodactyly of toe 0.5244686336417319 0.8452821808233367 0.3979533076126396 1.0 1.0 6 Q8IWS0,P15924,P21333 3 |
| Abnormality of the palm 0.3291847668818395 0.8440099651226021 0.3986638370931541 1.0 1.0 88 Q9NXE4,P27635,P21333,Q06136,O00170,P62266,P98175,P36507,Q69YQ0,P15924,Q9BZI7,P10644,P46109,P28482,Q15437,Q7Z392,Q14683,Q96ST3,P46821,Q9UID3,Q13620,Q15149,P18206 23 |
| Pituitary adenoma 0.4645509466012443 0.84370270134881 0.3988355576467808 1.0 1.0 9 P10644,P52701,P60866 3 |
| Aplasia hypoplasia of the hallux 0.4041991362261383 0.8416138923813438 0.4000041105208787 1.0 1.0 14 Q12830,Q5H8A4,P21333,P55011,Q7Z6Z7 5 |
| Goiter 0.4753793837141939 0.8415739353615123 0.4000264839233036 1.0 1.0 7 Q9UPY3,Q15437 2 |
| Abnormality of the musculature of the upper limbs 0.30409804633248 0.8410779336533352 0.4003042761229634 1.0 1.0 57 O75369,P42766,Q06124,P60866,Q07020,Q9Y6X9,P21333,P18077,A6NHR9,P62899,P43243,P61313,P12235,Q15149,O14979,Q14203,Q7Z392,P08708 18 |
| Oral cleft 0.3895237585977411 0.839361906365372 0.4012662535985938 1.0 1.0 131 Q9NXE4,O95602,P21333,P24928,P61313,Q93008,Q13618,P63241,Q5JPH6,P08708,Q9NVI1,P62266,O60934,Q13428,O75369,Q8N201,P42766,P53992,Q15436,P40763,P18077,Q8IWS0,P98175,P36507,P60866,Q69YQ0,P15924,Q08J23,Q6PGP7,P29372,Q9Y617,P46109,P53597,P28482,Q15392,Q07020,Q06124,Q14683,Q96T60,Q9Y4A5,Q5H8A4,P62899,A6NHR9,Q96GM5,Q9UQE7 45 |
| Myelomeningocele 0.8543019480519476 0.838551503700135 0.4017210344713069 1.0 1.0 2 P21333 1 |
| Abnormality of the gingiva 0.3615753871489232 0.8365975145557895 0.4028188431347042 1.0 1.0 39 Q9Y4P3,P49257,P40763,O00203,P46821,Q15392,Q93008,P15924 8 |
| Ectopic kidney 0.4318464190630579 0.8350621130848027 0.4036827371116072 1.0 1.0 12 Q9Y4P3,P26196,Q93008,Q69YQ0,P78347 5 |
| Spastic tetraparesis 0.3678443826226057 0.8328889943589997 0.4049073371751348 1.0 1.0 19 Q14683,Q9Y617,Q9H9P8,P43034,Q5JPH6 5 |
| Abnormal platelet function 0.5408432378091139 0.8281723791325546 0.4075728838778119 1.0 1.0 5 P22681,O00203 2 |
| Reduced natural killer cell count 0.7332977858478726 0.82679251280498 0.4083546744799868 1.0 1.0 3 P33991 1 |
| Abnormal natural killer cell morphology 0.7332977858478726 0.82679251280498 0.4083546744799868 1.0 1.0 3 P33991 1 |
| Dysphasia 0.3817772368586826 0.8257655361406534 0.4089371077423158 1.0 1.0 16 Q13428,P17480,Q9H9P8,P53701,Q15149 5 |
| Calvarial skull defect 0.5200433727467807 0.8257357644615937 0.4089539996412434 1.0 1.0 6 Q14692,Q15149 2 |
| Gliosis 0.3632836913289452 0.8232010275755173 0.4103936846313512 1.0 1.0 37 Q7LBC6,O75165,P51659,Q9H9P8,P49770,Q13144,O95169,Q04637,P42704,O75306 10 |
| Positional foot deformity 0.2947826898808308 0.8211026613079812 0.4115877942687316 1.0 1.0 68 Q8N5F7,P51659,P21333,P38606,O75369,P53992,P54886,P98175,Q8TD16,Q69YQ0,Q12756,Q9Y617,P28482,Q8NBU5,Q15392,Q6ZXV5,Q9H267,P18074,Q14683,Q5H8A4,O60231,O00469,Q9UQE7,Q9Y3E5 24 |
| Exodeviation 0.3670741647812053 0.8201010293362058 0.412158515489136 1.0 1.0 20 P55795,P27635,Q9UEY8,Q7Z392,Q8IYI6 5 |
| Abnormality of exocrine pancreas physiology 0.3847170381907153 0.818346458068706 0.4131593852362449 1.0 1.0 15 Q7Z2Z2,P48506,P40763,Q9Y3E5,P14174 5 |
| Generalized onset motor seizure 0.3525445968783093 0.8132574577235102 0.4160704627276874 1.0 1.0 42 O43776,P27635,Q05639,Q14683,Q96T60,P40763,Q15046,P43034,Q01105,Q00610,Q9HA77,Q14204 12 |
| Spinal cord compression 0.728955199553756 0.8114258497244144 0.4171211593433654 1.0 1.0 3 Q6NW34 1 |
| Natal tooth 0.4637116331680469 0.8112072174877499 0.4172466815165119 1.0 1.0 8 Q69YQ0,P21333 2 |
| Opisthotonus 0.3674050077469979 0.8101708203405253 0.4178420056297836 1.0 1.0 22 P43034,Q96RQ3,Q9HA77,Q9Y617 4 |
| Abnormality of the nail 0.3321227140928818 0.8083023545985044 0.4189165473943617 1.0 1.0 92 P54132,P19447,P21333,Q06136,P53701,O00170,Q8IY37,Q7Z6Z7,P63241,P78347,Q6NW34,Q99575,P40763,P36507,P51532,P15924,Q08J23,Q92785,Q9Y4P3,P10644,P26639,P46109,P28482,Q96ST3,Q96T60,O75533,Q9Y4A5,Q15042,Q15149 29 |
| Type i diabetes mellitus 0.4572908565858538 0.8072124095380937 0.4195441173868941 1.0 1.0 9 A5YKK6,P40763,P50851 3 |
| Abnormal female reproductive system physiology 0.3178226930467061 0.8072057182924587 0.419547971787312 1.0 1.0 53 P54132,P49257,P51659,P49770,O00170,Q13144,Q86W42,Q8IY37,P29401,O60934,Q12830,P40763,P10644,P51570,P35579,Q06124,Q14683,A6NHR9,P49327,Q9UQE7 20 |
| Facial telangiectasia 0.8445616883117019 0.8053417693482855 0.4206224844772699 1.0 1.0 2 Q07864 1 |
| Conspicuously happy disposition 0.8441558441558437 0.8039647866100946 0.4214173119959365 1.0 1.0 2 Q96ST3 1 |
| Abnormality of dental eruption 0.3249591762719833 0.803389723847581 0.4217495126826109 1.0 1.0 51 Q7Z2Z2,P21333,P51610,P61011,Q93008,O75369,Q15436,P40763,P51532,Q69YQ0,P15924,Q08J23,Q92785,Q9BZI7,P10644,Q14683,A6NHR9,Q96GM5,Q9UQE7 19 |
| Omphalocele 0.4506632552188658 0.8030308566155813 0.4219568999190426 1.0 1.0 10 P43034,Q69YQ0 2 |
| Congenital hypothyroidism 0.579422802335235 0.8015266107117172 0.4228268449454098 1.0 1.0 4 P10644 1 |
| Heterotaxy 0.5790525341733249 0.8000454903560764 0.4236844413026055 1.0 1.0 4 Q7LBC6 1 |
| Hand clenching 0.5341588851289746 0.7996015780541075 0.4239416728974339 1.0 1.0 5 Q8TD16,Q03001,O75369 3 |
| Anorexia 0.3649470792270678 0.7989590049825038 0.4243141831977759 1.0 1.0 21 P49327,P22681,P40763,P50747 4 |
| Pectus excavatum of inferior sternum 0.7251408906986276 0.7979777890894246 0.4248833794330506 1.0 1.0 3 P21359 1 |
| Abnormal larynx morphology 0.3662223796456493 0.797353181709892 0.4252459419020553 1.0 1.0 23 Q14807,P27635,Q7Z2Z2,O75369,P21333,P43243,Q69YQ0 7 |
| Cerebral white matter atrophy 0.3678516182286559 0.7967693047225295 0.4255850251519082 1.0 1.0 18 Q5T440,Q9H9P8,P51659,P54886,Q7Z392 5 |
| Abnormal metatarsal morphology 0.3811128012084886 0.7957925672456653 0.4261526126283161 1.0 1.0 15 Q14807,P10644,P21333,P28482,Q15392,Q08J23 6 |
| Abnormal pons morphology 0.3676658744201652 0.7955425786737528 0.4262979532943163 1.0 1.0 18 Q9UN37,Q9BVA1,Q9UID3,P08243 4 |
| Broad finger 0.3665224792779831 0.7930754302735127 0.4277338767226637 1.0 1.0 25 Q12830,Q14807,O75369,Q96T60,P21333,P55011,Q93008,Q7Z6Z7,Q08J23,Q6NW34 10 |
| Hand muscle weakness 0.4651875115472331 0.792072669979764 0.428318304721675 1.0 1.0 7 Q14203,Q9Y6X9 2 |
| Low set posteriorly rotated ears 0.2949112072760787 0.7916127472489359 0.4285865118919745 1.0 1.0 58 Q06124,Q9Y4P3,Q14683,Q5H8A4,P98175,P21359,P28482,P22681,P36507,Q15042,Q15392,Q93008,Q08J23,P78347 14 |
| Abnormal pulmonary thoracic imaging finding 0.3803595743277302 0.7910943334822168 0.4288889456074611 1.0 1.0 15 P40763,Q86Y56,Q15149,P49327,P15924 5 |
| Sporadic 0.362659312826538 0.790083409438834 0.4294790581894121 1.0 1.0 20 O75369,Q96ST3,P42345,P54886,Q86U86,P43034,Q9BWD1,Q69YQ0 8 |
| Myokymia 0.8396915584415579 0.7888551729982387 0.4301966582349197 1.0 1.0 2 O15020 1 |
| Craniosynostosis 0.3650778149078771 0.7886265060213632 0.4303303342783102 1.0 1.0 31 Q8IYI6,O75369,P18583,P19447,P53992,Q9Y617,P40763,P26639,P21333,Q7Z6Z7,Q69YQ0,Q08J23,Q92785 13 |
| Laryngeal stenosis 0.722471072496806 0.788593254425975 0.4303497747803404 1.0 1.0 3 Q14807 1 |
| Abnormal growth hormone level 0.3648874780378381 0.7881354398371623 0.4306174873078796 1.0 1.0 23 Q07864,Q03164,Q7Z2Z2,O75369,Q14683,Q96ST3,P10644,P61011,O00170,Q9NVI1 10 |
| Abnormality of dental structure 0.2800021228424507 0.7880523940380719 0.4306660596796987 1.0 1.0 61 Q7Z2Z2,P19447,P61011,P53701,Q86W42,P38606,P78347,Q13428,O75369,P53992,Q15436,O00203,Q9Y4P3,P26639,P21359,Q9NW13,A6NHR9,P55011,Q15149 19 |
| Mood swings 0.7221322387659532 0.7874039492579806 0.4310454356253352 1.0 1.0 3 Q13620 1 |
| Contractures of the joints of the upper limbs 0.3267040614706032 0.7866522010948054 0.431485492254511 1.0 1.0 50 P27635,Q9Y6X9,P21333,P54886,Q92979,Q9BZI7,P46109,P28482,Q15392,P22314,Q14807,P18074,Q14683,Q9Y3E5,Q96T58,Q15042,O60231,Q13620,O00469 19 |
| Frontal cortical atrophy 0.4355390538999762 0.7858967566412437 0.4319279748433762 1.0 1.0 11 Q12830,Q7Z6Z7,P55011 3 |
| Hypersplenism 0.4638597721415466 0.7856592632182502 0.4320671349388623 1.0 1.0 7 P22681 1 |
| Clinodactyly 0.3535439314162725 0.7855710681151196 0.4321188197781407 1.0 1.0 108 Q07864,P54132,P27635,P21333,P51610,P51571,P43034,Q93008,Q7Z6Z7,Q9NVI1,P78347,Q03164,Q12830,Q93009,O75369,O60488,P98175,P22681,P51532,Q69YQ0,P15924,Q08J23,Q92785,Q9BZI7,Q9Y4P3,P46109,P28482,O43776,Q06124,Q14683,Q96ST3,Q9Y4A5,P46821,P55011,Q13620,Q96GM5,Q9UQE7 37 |
| Tarsal synostosis 0.7213573508339901 0.7846855620365073 0.4326379499793398 1.0 1.0 3 P21333 1 |
| Synostosis involving bones of the lower limbs 0.7213573508339901 0.7846855620365073 0.4326379499793398 1.0 1.0 3 P21333 1 |
| Absent hypoplastic paranasal sinuses 0.720580978080209 0.7819640252860592 0.434235715916853 1.0 1.0 3 A6NHR9 1 |
| Intracranial hemorrhage 0.3631745739736232 0.7811270419507734 0.4347277785864816 1.0 1.0 22 P49257,P05165 2 |
| Neonatal insulin dependent diabetes mellitus 0.8372564935064929 0.7806429088590325 0.4350125474434394 1.0 1.0 2 P40763 1 |
| Proportionate tall stature 0.836850649350666 0.7792762535014688 0.4358169998710135 1.0 1.0 2 P21359 1 |
| Elevated circulating growth hormone concentration 0.8368506493506489 0.7792762535014126 0.4358169998710466 1.0 1.0 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.8368506493506489 0.7792762535014126 0.4358169998710466 1.0 1.0 2 P10644 1 |
| Joint contracture of the hand 0.3621611167482013 0.7777971249451284 0.4366886231432199 1.0 1.0 33 P27635,Q9BZI7,P18074,Q14683,Q9Y6X9,P21333,P46109,Q15042,P28482,Q92979,Q13620,Q15392,Q9Y3E5,P22314 14 |
| Abnormal circulating igg level 0.4213792186994781 0.7776914933045185 0.4367509083219174 1.0 1.0 12 P54132,P18583,P18074,P50851,P49327,P00813 6 |
| Pseudobulbar signs 0.4567696940521476 0.777099204554499 0.4371002432518729 1.0 1.0 8 P54886,P26358 2 |
| Failure to thrive in infancy 0.3639940557124363 0.7770472279015538 0.4371309070238403 1.0 1.0 30 Q12830,Q96RQ3,Q06124,Q9Y4P3,P06737,Q96BN8,P18583,Q9Y617,P35606,P40939,P36507,P78347 12 |
| Woolly hair 0.5286732066276543 0.7762805522653865 0.4375833533098245 1.0 1.0 5 P15924,Q6PGP7 2 |
| Micromelia 0.3594665613611892 0.7762604946854563 0.4375951937146265 1.0 1.0 19 Q07864,O75369,Q14683,P10644,Q9Y617,Q15392,Q9UQE7 7 |
| Astrocytoma 0.5084910091820622 0.7750530628620622 0.4383083052411749 1.0 1.0 6 P21359 1 |
| Ketosis 0.3929931864193308 0.7747342915003463 0.4384966836309427 1.0 1.0 14 P12235,P53985,Q15046 3 |
| Severe varicella zoster infection 0.7180772595663492 0.773201591674306 0.4394030843221608 1.0 1.0 3 Q9H0U3 1 |
| Adrenal hyperplasia 0.5720370335836227 0.7720775856781692 0.440068476776994 1.0 1.0 4 P10644 1 |
| Severe muscular hypotonia 0.3625252605736275 0.7718819997818441 0.4401843193218189 1.0 1.0 23 Q5T440,Q05639,Q5H8A4,Q8TD16,Q01105,Q00610,Q9HA77,P22314,Q14204 9 |
| Metaphyseal widening 0.4068237378197347 0.7716815417822138 0.440303065688072 1.0 1.0 13 Q14807,Q7Z2Z2,P21333,Q9NR45 4 |
| Abnormal breath sound 0.4554601056869727 0.7706927103414953 0.4408890937772525 1.0 1.0 8 Q86Y56,P15924,P21333 3 |
| Macrogyria 0.5716663189423881 0.7706048890894994 0.4409411623930013 1.0 1.0 4 Q15392 1 |
| Somatic mutation 0.3591693940166399 0.7705445350494413 0.4409769479309169 1.0 1.0 35 O60934,Q9UPY3,Q06124,P52701,O75533,Q9NWH9,P21359,P22681,O00170,Q92804,Q01844,P35658,P00813 13 |
| Wide nose 0.3578786284645891 0.7701043189796575 0.4412380142462311 1.0 1.0 36 Q6PGP7,Q96ST3,Q15436,P40763,Q9NR45,P43034,Q12797,P53701,Q9HCK8,P51532 10 |
| Apraxia 0.3247353856430329 0.7683445499612883 0.4422825139728215 1.0 1.0 50 Q93009,Q9NQT5,Q7Z392,Q14683,Q96T60,P40763,O14646,P46109,P51570,P28482,Q69YN2,P55011,O96008,Q9BVA1,Q7Z6Z7 15 |
| Severe short stature 0.3635010037932281 0.7681418960515863 0.4424028886836155 1.0 1.0 18 Q07864,P53701,Q15392,Q6NW34 4 |
| Abnormality of the thyroid gland 0.3205382651552989 0.7654846636083711 0.4439829953724949 1.0 1.0 87 P27635,O00170,Q93008,Q9NVI1,P78347,P40763,P50851,P60866,P51532,Q92785,Q9UPY3,Q9Y4P3,Q6PGP7,P10644,Q15046,P00813,Q15437,O14654,P52701,Q14683,P12235,P49327 22 |
| Beaking of vertebral bodies 0.4594218810264304 0.7642874461447353 0.4446959648757311 1.0 1.0 7 P21359 1 |
| Abnormality of t cell physiology 0.4305738335714205 0.7598891284162725 0.4473208605812206 1.0 1.0 11 P49327,Q9H0U3 2 |
| Postaxial polydactyly 0.4175566429171091 0.7569265538087986 0.4490938657730645 1.0 1.0 12 Q93008,P21333 2 |
| Neoplasm of the respiratory system 0.4412364372059731 0.7552941774131663 0.4500724915320795 1.0 1.0 10 Q9UPY3,P52701 2 |
| Dyslexia 0.4575456470156054 0.755283140161668 0.4500791125837482 1.0 1.0 7 P48506,P46821 2 |
| Abnormal form of the vertebral bodies 0.2888231965406007 0.7530311463963114 0.4514311977921901 1.0 1.0 68 Q99575,Q9Y4P3,P10644,Q15436,P21333,Q9NR45,P21359,O00170,Q8IY37,P63241,O00469,P00813,Q6NW34 13 |
| Antineutrophil antibody positivity 0.7113276492082761 0.7496912960793919 0.4534406508877113 1.0 1.0 3 P49327,P61011 2 |
| Abnormal umbilicus morphology 0.3371480647396278 0.7451935611098218 0.4561547148082558 1.0 1.0 45 Q9Y4P3,P18074,P42345,P19447,P53992,P26639,Q96T60,P54886,P21333,Q9Y4A5,Q9NRZ9,Q8NBU5,Q7LBC6,Q9NVI1,Q69YQ0,P78347 16 |
| Overlapping toe 0.3558262994766342 0.744113791596561 0.4568076363427957 1.0 1.0 20 Q12830,Q8N201,Q15042,P28482,Q86W42,Q93008,Q7Z6Z7 7 |
| Abnormal pulmonary valve morphology 0.427412507086669 0.743416526480194 0.4572295417091987 1.0 1.0 11 P10644,P22681,Q06124 3 |
| Delayed gross motor development 0.3215927378196295 0.7433961054905276 0.4572419014619653 1.0 1.0 89 P27635,Q9NYY8,Q9Y6X9,P24928,P43034,Q13618,Q7Z6Z7,P38606,Q03164,O60701,Q9P2J5,Q14204,Q92785,Q15046,Q6ZXV5,O43776,Q14683,Q9Y4A5,Q5H8A4,Q15042,P55011,Q9UID3,Q01105,Q15149,Q96GM5,Q7LBC6,Q96N66 27 |
| Alveolar ridge overgrowth 0.8250811688311868 0.7399092542521357 0.4593550587532209 1.0 1.0 2 Q15392 1 |
| Productive cough 0.449133484056391 0.7398782155520872 0.459373893852129 1.0 1.0 8 Q86Y56,P10644,P40763 3 |
| Decreased circulating igg level 0.4264801995467199 0.7385720602799098 0.4601668951886466 1.0 1.0 11 P54132,P18583,P18074,P50851,P49327,P00813 6 |
| Intellectual disability progressive 0.437722892136644 0.7376395415200153 0.460733520247635 1.0 1.0 10 P19447,P53701 2 |
| Subcutaneous hemorrhage 0.3580387594095333 0.7373104260568083 0.460933593309794 1.0 1.0 31 Q06124,P53992,P49257,P10644,P40763,P21333,P28482,O00170,Q15149,P35579,P49327 11 |
| Abnormality of the forearm 0.3521579558961115 0.7365978804047012 0.4613669243265981 1.0 1.0 37 Q14807,Q06124,Q9Y4P3,Q14683,P10644,P21333,P98175,P22681,P36507,Q9UQE7,Q9NVI1,P78347 12 |
| Wide intermamillary distance 0.356551615613951 0.7361418238309516 0.4616443922210691 1.0 1.0 22 Q9NXE4,P21359,P22681 3 |
| Mask like facies 0.4428677108143413 0.735539895232186 0.4620107522687666 1.0 1.0 9 A6NHR9,Q14203,O75787,P38606 4 |
| Hypopigmentation of the skin 0.3513463373163295 0.7303702804663647 0.4651638794741792 1.0 1.0 37 P54132,Q15477,O14617,Q96C86,P49327,Q6PGP7,P18074,P42345,P19447,P53992,P55265,O00203,P53701,Q15437,Q9NVI1 15 |
| Iris hypopigmentation 0.5177703221284465 0.7303068708723124 0.465202629313354 1.0 1.0 5 O14617 1 |
| Abnormality of the uterus 0.3378467825343254 0.7297858854171968 0.4655210734005102 1.0 1.0 44 Q07864,P52701,Q14683,P53701,Q15437,Q86W42,Q8IY37,P60866,Q69YQ0,Q9NVI1 10 |
| Abnormal heart valve morphology 0.2844828193520676 0.7288202427564998 0.4661116273529448 1.0 1.0 59 P55795,P21333,P53701,Q9NVI1,P78347,O60488,P54886,P22681,P36507,Q9Y4P3,Q6PGP7,P10644,P21359,P28482,Q6ZXV5,Q06124,Q5H8A4,P46821,Q9UQE7 19 |
| Abnormal iliac wing morphology 0.4512648434943059 0.7252848721986072 0.468277284419766 1.0 1.0 7 Q9NR45 1 |
| Infertility 0.4351635637253553 0.7248307305517923 0.4685558806088328 1.0 1.0 10 P54132,Q8IY37,Q86Y56 3 |
| Flared nostrils 0.559407202718977 0.7222229894731721 0.4701573912158538 1.0 1.0 4 Q93008 1 |
| Deviation of the thumb 0.3835616316327531 0.7193044002838069 0.4719533852894295 1.0 1.0 14 O75369,Q14683,Q96ST3,P21333,Q9UQE7,Q9Y3E5 6 |
| Recurrent bronchitis 0.7024727279267926 0.7191096134089919 0.4720733845161105 1.0 1.0 3 Q9H0U3 1 |
| Spina bifida occulta 0.3682771906877882 0.7165264101912079 0.4736663659079694 1.0 1.0 15 Q06124,Q9Y4P3,P21333,P14868,Q08J23,P78347 6 |
| Hypoplasia of the radius 0.4441623730075208 0.7158340067340886 0.4740938514245114 1.0 1.0 8 P98175,P10644,Q9NVI1 3 |
| Squamous cell carcinoma 0.4329818687371359 0.7139474127315343 0.4752596977695309 1.0 1.0 10 P54132,P53602,P14324,P18074,P19447,P26639 6 |
| Intestinal malrotation 0.3544921350638629 0.7130701872578435 0.475802326464851 1.0 1.0 24 O75369,Q14683,P53992,P21333,Q86Y56,P55011,Q9NSD9,Q15392,Q9UQE7 9 |
| Orthostatic hypotension due to autonomic dysfunction 0.4382315155972576 0.712769223069024 0.4759885732648956 1.0 1.0 9 O75165 1 |
| Absent toe 0.3637853038989438 0.7123213830309936 0.476265785761953 1.0 1.0 16 Q12830,Q5H8A4,P21333,P55011,Q7Z6Z7 5 |
| Excessive wrinkled skin 0.4324596914142567 0.711347530104112 0.4768689049129575 1.0 1.0 10 P36507,Q06124,P38606,Q9BZK7 4 |
| Intestinal atresia 0.4430807423439754 0.7106232662428416 0.4773177214916617 1.0 1.0 8 Q96ST3,Q7LBC6 2 |
| Functional abnormality of male internal genitalia 0.3539731641136049 0.709553477234421 0.4779810780198086 1.0 1.0 24 P54132,Q9Y4P3,Q86Y56,O00170,Q8IY37,Q9NVI1 6 |
| Abnormality of the fontanelles or cranial sutures 0.3122643411711426 0.7093415605380454 0.4781125434608388 1.0 1.0 85 P26640,P19447,P51659,P21333,Q7Z6Z7,P38606,Q6NW34,Q93009,O75369,P53992,Q15436,P40763,P54886,P98175,Q14839,Q69YQ0,Q08J23,Q92785,Q12756,P26196,Q9Y617,P26639,P28482,Q8IYI6,P18583,P18074,P42345,Q14738,P46821,Q96GM5,Q9UQE7,O00469 32 |
| Abnormal ureter morphology 0.3817947674117898 0.7090200585217618 0.4783120293993232 1.0 1.0 14 Q96T60,Q9NVI1,Q15149,P21333 4 |
| Flat face 0.3586747475173212 0.7067399149440318 0.4797281199127532 1.0 1.0 17 Q03164,Q14807,Q96C86,Q9NRZ9,P21333,Q9UQE7 6 |
| Gastrostomy tube feeding in infancy 0.3545087375846465 0.7063046270383747 0.479998716593109 1.0 1.0 28 O60701,Q05639,Q14683,Q9Y617,Q01105,Q00610,O15121,P42704,Q14204 9 |
| Melanoma 0.366552041447644 0.7060129168452437 0.4801801047702865 1.0 1.0 15 O60934,P11802,Q06124,P19447,Q15437 5 |
| Partial agenesis of the corpus callosum 0.4313853804256291 0.7060047845953447 0.480185162016074 1.0 1.0 10 P36776,P18074,P82663,P19447,P26639,Q15392 6 |
| Wormian bones 0.3627395504935272 0.7058427294887771 0.4802859461470867 1.0 1.0 16 O00469,P54886,P21333 3 |
| Retinopathy 0.3520232522913591 0.7057579406291659 0.4803386820109274 1.0 1.0 22 P54132,P49327,P18074,P19447,P40763,Q5H8A4,O95169,P11802,O75306 9 |
| Diplopia 0.3537648447302307 0.7049513336195946 0.4808405226535639 1.0 1.0 18 O75165,O15020,P18074,P19447,O00170,Q6Y7W6,Q04637 7 |
| Abnormal size of the clitoris 0.4076048148383376 0.7034039704431384 0.4818040328774957 1.0 1.0 12 Q8IY37 1 |
| Psychomotor retardation 0.3535286386705582 0.7020071600647402 0.4826746982067655 1.0 1.0 30 Q96RQ3,Q9Y617,P54886,P11498,P05165 5 |
| Hyperactivity 0.3698386462095571 0.7013384991639611 0.4830917929153182 1.0 1.0 126 P55795,O95319,Q05639,P17480,Q8N5F7,P51610,Q93008,Q13618,Q7Z6Z7,P29401,P38606,P78347,Q03164,Q12830,O60934,Q93009,O60488,P49588,P49591,P60866,P51532,Q08J23,Q92785,Q96C86,Q9BZI7,Q9Y4P3,P10644,P46109,P21359,P28482,Q00610,Q9BVA1,Q96F86,P52701,Q9NZ01,Q14683,Q96ST3,Q96T60,P46821,P55011,Q13620,Q96GM5,Q7LBC6,Q9UQE7,Q96N66 45 |
| Astigmatism 0.345873043698444 0.6995340184190606 0.4842183610655408 1.0 1.0 38 P26640,Q12830,Q8N201,P18074,P26196,P19447,P26639,Q14738,P21333,P55011,Q92974,Q14839,Q93008,Q7Z6Z7,Q9NVI1 15 |
| Abnormal mitral valve physiology 0.3507005260446539 0.6995192155443894 0.484227608640031 1.0 1.0 34 P49327,Q9Y4P3,Q8N5F7,P54886,P21333,P21359,P53701,O00170,P22681,O95169,P78347,O75306 12 |
| Limb undergrowth 0.3441606728150427 0.6984723637186713 0.4848818352207684 1.0 1.0 39 Q07864,Q12830,Q03164,O75369,Q14683,P42345,P10644,Q9Y617,P21333,P98175,Q15392,Q9UQE7,Q9NVI1 13 |
| Abnormality of the knee 0.2856027821808193 0.6984134631650105 0.4849186591500563 1.0 1.0 69 P27635,Q7Z2Z2,Q9Y4P3,Q9Y617,O60231,P21359,P46821,P36507,O00469,Q93008,Q6ZXV5,Q6NW34 12 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.3474119249544236 0.6964015177832888 0.4861774127971612 1.0 1.0 19 P21359,Q9Y4P3 2 |
| Downturned corners of mouth 0.3521559309034775 0.6950827629213086 0.4870034363860291 1.0 1.0 31 Q8N201,P18583,Q05639,Q14683,P40763,Q5H8A4,Q96GM5,Q8IY37,Q9UQE7 9 |
| Abnormality of vitamin b metabolism 0.4291036383500747 0.694685355661152 0.4872525074654164 1.0 1.0 10 P49327,P11586,P51610 3 |
| Gastroparesis 0.5088289929611638 0.6930243735288302 0.488294255781174 1.0 1.0 5 P12235,P18583 2 |
| Rhinitis 0.4892074655376781 0.691777249349518 0.4890772260269227 1.0 1.0 6 P54132,Q86Y56 2 |
| Flat cornea 0.5085099437942949 0.6917016622118881 0.4891247029157404 1.0 1.0 5 Q9Y4P3 1 |
| Phonophobia 0.5085099437942949 0.6917016622118881 0.4891247029157404 1.0 1.0 5 Q9Y4P3 1 |
| Overfriendliness 0.5085099437942949 0.6917016622118881 0.4891247029157404 1.0 1.0 5 Q9Y4P3 1 |
| Nystagmus induced head nodding 0.5085099437942949 0.6917016622118881 0.4891247029157404 1.0 1.0 5 Q9Y4P3 1 |
| Supravalvular aortic stenosis 0.5085099437942949 0.6917016622118881 0.4891247029157404 1.0 1.0 5 Q9Y4P3 1 |
| Abnormal pericardium morphology 0.4386290330072107 0.689259996948196 0.4906596669050174 1.0 1.0 8 P14174 1 |
| Primitive reflex 0.4885676953145925 0.6890472490220884 0.4907935343786347 1.0 1.0 6 P54886,P26358 2 |
| Thoracolumbar kyphosis 0.4885543338500727 0.6889902580691621 0.4908293981546183 1.0 1.0 6 Q14807,Q99575,Q6NW34 3 |
| Bilateral talipes equinovarus 0.550813727380698 0.6887094016147243 0.4910061585827034 1.0 1.0 4 Q15392,Q9Y617 2 |
| Abnormal internal genitalia 0.3224662432672309 0.6879250236788246 0.4914999974609273 1.0 1.0 93 Q07864,P20585,P54132,O60832,P19447,P51659,P49770,P53701,Q13144,O00170,Q86W42,Q8IY37,Q9NVI1,P78347,O60934,Q13428,P53992,Q8IWS0,P60866,Q69YQ0,Q9UPY3,Q9Y4P3,P28340,P10644,P26639,P51570,Q01844,Q15437,Q06124,P52701,P18074,Q14683,Q6KC79,P49327,Q9UQE7 35 |
| Ulnar deviation of the hand or of fingers of the hand 0.4275994594310205 0.687244721762496 0.491928526649108 1.0 1.0 10 P46109,P21333,Q15042,P28482,Q14739,Q9NW13,Q9Y3E5 7 |
| Abnormal meningeal morphology 0.3459546992556509 0.6868957921219552 0.4921483987844797 1.0 1.0 19 O43776,P18583,Q14683,Q96ST3,P53992,P21333,P21359 7 |
| Abnormality of the scrotum 0.3453628528876018 0.6848822296592825 0.4934182404413034 1.0 1.0 37 Q12830,Q13428,P26196,Q8TCJ2,Q9Y4A5,Q9Y3E5,Q8IWS0,P55011,Q9NSD9,Q8IY37,Q7Z6Z7,Q69YQ0 12 |
| Abnormal granulocytopoietic cell morphology 0.6922452293950359 0.6841877783982085 0.4938565987060606 1.0 1.0 3 Q07020,O75533 2 |
| Venous thrombosis 0.4033330942738805 0.6806926293733524 0.4960660011104023 1.0 1.0 12 P10644,P49327,Q9NWH9 3 |
| Rib fusion 0.4417921832208233 0.6805013693459413 0.4961870550721461 1.0 1.0 7 Q5H8A4,P18583,Q96T58 3 |
| Pancytopenia 0.350060813128591 0.680202428208259 0.4963762950591981 1.0 1.0 31 O60934,Q7Z2Z2,P11586,P10644,O75533,O76094,P40763,P61011,P22681,Q9NSD9,P05165,P50851 12 |
| Death in adolescence 0.806818181818181 0.6799278859135868 0.4965501236432963 1.0 1.0 2 P15924 1 |
| Aplasia hypoplasia involving bones of the upper limbs 0.3517612773693541 0.6797118097257382 0.4966869567796381 1.0 1.0 114 P27635,Q9NR45,P21333,P51610,P61313,Q93008,Q13618,Q7Z6Z7,P08708,Q9NVI1,Q6NW34,Q03164,Q12830,Q93009,O75369,P42766,O60488,P54886,P18077,Q8IWS0,P98175,P60866,P51532,Q69YQ0,Q08J23,Q14204,Q92785,Q9BZI7,P10644,P46109,P53597,P28482,Q07020,Q14807,Q14683,Q96ST3,Q96T60,Q5H8A4,P62899,Q13620,Q96GM5,Q9UQE7 42 |
| Abnormal endocardium morphology 0.3900304911015098 0.6778222564662574 0.4978843976302314 1.0 1.0 13 Q9Y4P3,P10644,P49327,P18206,P78347 5 |
| Abnormality of hair pigmentation 0.34521646231732 0.6740864900366801 0.500256328114145 1.0 1.0 20 O14617,Q6PGP7,P10644,O00203,P49327 5 |
| Aplasia cutis congenita over the scalp vertex 0.8047889610389627 0.673353398199795 0.5007224887732233 1.0 1.0 2 Q15149 1 |
| Congenital localized absence of skin 0.8047889610389627 0.673353398199795 0.5007224887732233 1.0 1.0 2 Q15149 1 |
| Duplicated collecting system 0.5040610930900388 0.6733155779877644 0.5007465442489221 1.0 1.0 5 P28482,P41252 2 |
| Abnormal incisor morphology 0.4135303450087101 0.6719771059409357 0.5015982712332889 1.0 1.0 11 Q12830,Q7Z6Z7,P55011 3 |
| Incisor macrodontia 0.4135303450087101 0.6719771059409357 0.5015982712332889 1.0 1.0 11 Q12830,Q7Z6Z7,P55011 3 |
| Thoracic kyphosis 0.3753255505893989 0.6716609695981055 0.5017995542217131 1.0 1.0 14 Q14807,O43776,O75369,Q99575,P19447,P26639,Q6NW34 7 |
| Renal tubular acidosis 0.4297207003117292 0.6713589951607659 0.501991860285735 1.0 1.0 9 O95169,P11498,Q9H267,O75306 4 |
| Aplasia of the semicircular canal 0.8039772727272952 0.6707289200997735 0.5023932358661387 1.0 1.0 2 P22681 1 |
| Morphological abnormality of the vestibule of the inner ear 0.8039772727272952 0.6707289200997735 0.5023932358661387 1.0 1.0 2 P22681 1 |
| Lymphedema 0.3886695036070439 0.670336608570775 0.5026432350843757 1.0 1.0 13 P28482,P22681,P36507,P26358 4 |
| Bilateral microphthalmos 0.503176470026026 0.6696728173002799 0.5030663836041307 1.0 1.0 5 P19447,P26639,Q13428 3 |
| Synostosis of joints 0.3488364928534952 0.6691153269166666 0.5034219136213789 1.0 1.0 26 Q06124,Q9Y4P3,Q14683,P21333,P22681,Q9UQE7,Q9NVI1,P78347 8 |
| Ureterocele 0.6876087338610566 0.6685079881957696 0.5038093845341591 1.0 1.0 3 Q15149 1 |
| Ulnar deviation of finger 0.4836903086578131 0.6683118822624764 0.5039345301160725 1.0 1.0 6 Q15042,P28482,P46109 3 |
| Abnormality of the pituitary gland 0.3136023853140944 0.6668734885949759 0.5048529464990341 1.0 1.0 50 Q07864,Q7Z2Z2,P52701,Q14683,Q96ST3,P10644,P51659,P33991,Q8IY37,P60866,Q7Z392,Q9NVI1,O14654 13 |
| Rhizomelia 0.4286198332544168 0.666042222582047 0.5053841129558809 1.0 1.0 9 Q03164,Q15392,O75369 3 |
| Thick cerebral cortex 0.6865464741639162 0.6649295484152485 0.5060955553447852 1.0 1.0 3 P43034 1 |
| Abnormal number of granulocyte precursors 0.801948051948051 0.6641811768309389 0.5065743593527114 1.0 1.0 2 Q07020 1 |
| Restrictive ventilatory defect 0.4378708427391808 0.6621406764137503 0.5078810692159443 1.0 1.0 7 O60832,Q7Z392,O75369,P53621 4 |
| Incomitant strabismus 0.4115397389742151 0.6618650906934764 0.5080576862009232 1.0 1.0 11 Q12830,Q7Z6Z7,P55011 3 |
| Multiple joint contractures 0.3553155786614416 0.6602731482504857 0.5090785583707746 1.0 1.0 16 P19447,P35251,P26639,P55265,P21333,Q9NW13,Q9H270,P22314 8 |
| Abnormal duodenum morphology 0.4219058264982787 0.6592417433358732 0.5097405453092096 1.0 1.0 10 Q7LBC6,Q9NVI1 2 |
| Narrow iliac wing 0.6848173621507314 0.6591160215353652 0.5098212681671366 1.0 1.0 3 Q9NR45 1 |
| Central hypoventilation 0.4810094474001989 0.6569748584891952 0.511197082502084 1.0 1.0 6 Q14203,O75306 2 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.3861949335527653 0.6567778184094067 0.5113237888950013 1.0 1.0 13 Q7L0Y3,P11498 2 |
| Abnormal circulating pyruvate family amino acid concentration 0.3861949335527653 0.6567778184094067 0.5113237888950013 1.0 1.0 13 Q7L0Y3,P11498 2 |
| Abnormality of vitamin metabolism 0.3411955990277011 0.6560982969571414 0.5117608801428193 1.0 1.0 19 Q7Z2Z2,P11586,P51610,P53597,Q9NSD9,P49327 6 |
| Coarse hair 0.3582318033345704 0.6558390992964933 0.5119276562301731 1.0 1.0 15 P19447,Q15436,P21333,P22681,P38606 5 |
| Increased intracranial pressure 0.354300768361785 0.6541048485675136 0.5130442579522074 1.0 1.0 16 P49327,P52701,P10644,P60866,Q15437 5 |
| Tooth malposition 0.3008376599615477 0.6539949000390187 0.5131150913324212 1.0 1.0 81 P27635,P21333,P24928,P51571,Q12797,O00170,Q86W42,Q93008,P78347,Q12830,Q13428,Q9BZK7,Q69YQ0,Q9BZI7,Q9Y4P3,P28340,P10644,P28482,O43776,Q06124,Q14683,Q96ST3,Q96T58,A6NHR9,Q01105,Q6KC79,Q15042,Q13620,Q9UQE7 29 |
| Thickened nuchal skin fold 0.4261096700177721 0.6539550163331285 0.5131407873209453 1.0 1.0 9 P22681 1 |
| Blepharitis 0.3856675834179782 0.6538971570536413 0.5131780656747269 1.0 1.0 13 Q14683,O60832,P19447,P18074,Q6KC79,Q9UQE7,P06132 7 |
| Abnormality of the humerus 0.4207929309495107 0.65379923717944 0.5132411580198486 1.0 1.0 10 P36776,O75369,P21333,P53597,Q9Y5S9,O14802 6 |
| Aortic root aneurysm 0.3539718942542991 0.6521091476046932 0.5143307633200311 1.0 1.0 16 Q8N5F7,Q7Z6Z7 2 |
| Cryptorchidism 0.3847342492266745 0.6519982240824046 0.5144023180504944 1.0 1.0 142 Q07864,P54132,P27635,O60832,Q8N5F7,P19447,P21333,Q8IY37,P63241,Q7Z6Z7,P38606,Q9NVI1,P78347,Q93009,Q12830,Q13428,O75369,P53992,Q15436,P54886,Q8IWS0,P98175,Q92979,P22681,P36507,Q9BZK7,Q14839,P51532,Q69YQ0,Q08J23,Q92785,Q9Y4P3,P26196,P28340,P29372,P10644,P26639,P21359,P28482,P22314,P33992,Q06124,P18074,P42345,Q14683,Q96ST3,Q9Y4A5,Q8TCJ2,Q5H8A4,Q96T58,A6NHR9,P55011,Q6KC79,Q15042,Q13620,Q96GM5,Q7LBC6,Q9UQE7 58 |
| High hypermetropia 0.4305600594014572 0.6509006476731811 0.5151106233384244 1.0 1.0 8 P78347,Q9Y4P3,Q96T58 3 |
| Bone marrow hypercellularity 0.4254093013161724 0.6505916218089802 0.515310140120891 1.0 1.0 9 P10644,P40763,P49327 3 |
| Atrophy degeneration involving the corticospinal tracts 0.4253293090190902 0.6502077295930465 0.5155580488375082 1.0 1.0 9 Q14203,Q9Y4P3 2 |
| Abnormality of skeletal maturation 0.2925033094932978 0.649629033581256 0.5159318742978176 1.0 1.0 76 Q7Z2Z2,P19447,P51659,P61011,O00170,Q8IY37,Q7Z6Z7,P78347,Q03164,O75369,Q99575,P54886,P22681,Q9NSD9,P51532,Q08J23,Q92785,Q9Y4P3,P26196,P10644,P26639,Q15046,Q9NW13,Q06124,P18074,Q96ST3,Q14683,Q5H8A4,Q96GM5,Q9UQE7 30 |
| Gangrene 0.4246443618522271 0.6469227560140196 0.5176819372356714 1.0 1.0 9 P10644,P40763,P49327 3 |
| Pituitary growth hormone cell adenoma 0.6808138862731796 0.6457107142345788 0.5184667205038611 1.0 1.0 3 P10644 1 |
| Upper limb undergrowth 0.3839837817411793 0.6447205960871422 0.5191082667547775 1.0 1.0 13 P10644,Q12830,Q9NVI1,P98175 4 |
| Abnormal sensory nerve conduction velocity 0.5388409711194784 0.642642134123482 0.5204563366627863 1.0 1.0 4 Q9Y3E5 1 |
| Abnormal spermatogenesis 0.4077060512739625 0.6424930776642683 0.5205530824935221 1.0 1.0 11 Q8IY37 1 |
| Disproportionate short limb short stature 0.3559916629523336 0.6424913549925316 0.5205542006562807 1.0 1.0 15 Q03164,O75369,P42345,P10644,Q6DKJ4,Q15392 6 |
| Congenital nystagmus 0.3957463248395404 0.6407913095657576 0.5216582799278151 1.0 1.0 12 P26196,Q12830,Q7Z6Z7,P55011 4 |
| Abnormal 3rd finger morphology 0.7942370129870182 0.6394795628565227 0.5225110046776424 1.0 1.0 2 Q14683 1 |
| Deviation of the 2nd finger 0.7942370129870138 0.6394795628565078 0.5225110046776522 1.0 1.0 2 P21333 1 |
| Mild postnatal growth retardation 0.794237012987012 0.6394795628565025 0.5225110046776555 1.0 1.0 2 P10644 1 |
| Glioblastoma multiforme 0.4766938131815277 0.6388188147843387 0.5229408070181094 1.0 1.0 6 P52701 1 |
| Hypogonadotropic hypogonadism 0.3417734771915531 0.6382583182379784 0.523305540160673 1.0 1.0 22 Q06124,Q9Y4P3,A6NHR9,P22681,O00170,Q8IY37,P78347 7 |
| Somatic mosaicism 0.6783961359250408 0.6376531035446142 0.5236995193756029 1.0 1.0 3 Q9UPY3 1 |
| Eyelid myoclonus 0.4272442091251507 0.6352833314461847 0.5252436428235396 1.0 1.0 8 Q14204,Q00610,Q05639 3 |
| Short nose 0.3036054878566564 0.6339268439401597 0.5261285658933896 1.0 1.0 84 P26640,O95602,P21333,P43034,Q7Z6Z7,P38606,P78347,Q03164,O75369,Q8N201,P36507,Q9BZK7,P51532,Q69YQ0,Q92785,Q12756,Q96C86,Q9Y4P3,P10644,Q15392,P18583,Q14683,P42345,Q96ST3,Q9Y4A5,Q14738,Q15042,Q96GM5,Q9UQE7 29 |
| Abnormal circulating glycine concentration 0.4263245170900034 0.6309676065464012 0.5280617052285432 1.0 1.0 8 Q9Y617,P05165 2 |
| Neoplasm of the liver 0.3433105369592343 0.6307191199640464 0.5282241951244588 1.0 1.0 30 P52701,Q6PGP7,P49327,Q9NWH9,P60866,P51532,Q92785 7 |
| Generalized neonatal hypotonia 0.5355241755300773 0.6300205428352116 0.5286811438406507 1.0 1.0 4 P53597 1 |
| Abnormality of the hypothalamus pituitary axis 0.2993463265184951 0.6298997974475963 0.5287601454191291 1.0 1.0 53 Q07864,Q7Z2Z2,P52701,Q14683,Q96ST3,P10644,P51659,P33991,Q8IY37,P60866,Q7Z392,Q9NVI1,O14654 13 |
| Anonychia 0.3935037675277201 0.6291112120215523 0.5292762507023625 1.0 1.0 12 Q96T60,Q15149,P15924,P46109 4 |
| Abnormality of the pinna 0.4321514336870576 0.629109659140664 0.5292772672686066 1.0 1.0 190 P27635,O95602,Q9NR45,P51571,Q06136,P61313,Q8IY37,P63241,P62266,Q12830,P53992,Q8IWS0,Q8TD16,P22681,Q9BZK7,Q92785,Q12756,Q9Y4P3,P21359,Q00610,Q15392,O43776,P62899,P46821,Q7LBC6,Q07864,O14617,Q8N5F7,P53701,Q7Z6Z7,Q8N201,P54886,P18077,P36507,Q69YQ0,Q9Y617,Q14683,O60231,A6NHR9,P55011,Q9UID3,Q15149,Q9NXE4,P19447,P21333,P08708,O60934,O60701,P08243,Q14839,P60866,P15924,Q9BZI7,Q6PGP7,Q07020,P22314,P33992,Q96ST3,Q01105,P54132,A5YKK6,O00170,P38606,P78347,Q13428,P42766,P98175,Q08J23,P26639,P46109,P28482,Q06124,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7 77 |
| Prominent supraorbital ridges 0.4049779599233148 0.6287934349240856 0.5294842985974104 1.0 1.0 11 Q15436,P36507,Q9HCK8 3 |
| Dental malocclusion 0.3391957457846547 0.6279570580108588 0.5300320712148463 1.0 1.0 21 Q9Y4P3,P10644,P21333,A6NHR9,Q12797,Q86W42,P78347 7 |
| Aplasia hypoplasia of the abdominal wall musculature 0.5344140132985586 0.6258103815440728 0.53143932164137 1.0 1.0 4 P22681,Q06124 2 |
| Abnormal adipose tissue morphology 0.3120195224245177 0.6257071874129334 0.531507018081907 1.0 1.0 49 P54132,P27635,Q969U7,P19447,P28340,P26639,P55265,P21333,P18206,Q9UN37,Q9BZK7,P49327,Q9NW13,P15924,P38606,Q15437 16 |
| Wide mouth 0.2874337832357895 0.6249138661398667 0.5320275911609411 1.0 1.0 56 P55795,Q13428,Q9Y4P3,Q6PGP7,Q15436,Q9Y4A5,P51532,P28482,Q01105,Q13620,P55011,Q96GM5,Q7LBC6,Q7Z6Z7,Q08J23,P78347,Q92785 17 |
| Short palm 0.3670323609800069 0.6245122439876941 0.5322912318551425 1.0 1.0 14 Q96ST3,P10644,P46109,P21333,P28482,Q13620 6 |
| Digenic inheritance 0.6736521995099752 0.621928821694833 0.5339886723937792 1.0 1.0 3 A6NHR9 1 |
| Malignant neoplasm of the central nervous system 0.3405070685375557 0.6211906365440506 0.5344741994719437 1.0 1.0 18 O60934,Q9UPY3,Q06124,P52701,P21359,P60866 6 |
| Cutaneous photosensitivity 0.3391152438974517 0.6210703032509025 0.5345533674937635 1.0 1.0 22 P54132,O60934,P53602,P12004,P14324,P26196,P19447,P26639,Q06136,Q08J23 10 |
| Abnormal globus pallidus morphology 0.4240964450065364 0.6205417295178258 0.5349011895076727 1.0 1.0 8 O95169,O75306,Q9H269,P24928 4 |
| Large fleshy ears 0.6731628095817888 0.6203132876245981 0.5350515484494465 1.0 1.0 3 O43776,Q9BZK7 2 |
| Abnormality of the middle ear 0.3289691673649472 0.6189786067274805 0.5359304523517889 1.0 1.0 102 P54132,Q6P2Q9,P21333,A5YKK6,Q7Z6Z7,P63241,Q9NVI1,P62266,O60934,Q12830,P78347,Q13428,O75369,Q9H0U3,P40763,O00203,P50851,Q69YQ0,Q92785,Q9Y4P3,P21359,Q86Y56,P28482,Q92620,P00813,Q14683,O43395,Q5H8A4,A6NHR9,P55011,Q9UQE7 31 |
| Highly arched eyebrow 0.3194314855055677 0.6182942041503343 0.5363814217309677 1.0 1.0 46 Q9NXE4,Q12830,Q14683,P26196,Q9Y4A5,Q5H8A4,P46109,Q96T58,P28482,P55011,Q9UQE7,Q7Z6Z7,Q69YQ0,P42704,P62266 15 |
| Heterotropia 0.3282252697763549 0.6167442335015779 0.5374034402245322 1.0 1.0 42 Q93009,P55795,P27635,P18583,P18074,P19447,P26639,Q15436,Q9UEY8,Q14738,Q7Z6Z7,Q9Y3E5,Q8IYI6 13 |
| Infantile spasms 0.3399382420947369 0.61628033758424 0.5377095136891739 1.0 1.0 24 Q14683,Q96T60,O60231,P43034,P28482,Q8IY37,Q13813,Q13618 8 |
| Azoospermia 0.4129559155613211 0.6157809784792964 0.5380390831838542 1.0 1.0 10 Q8IY37 1 |
| Gastrointestinal hemorrhage 0.3387576310618332 0.6132547490890099 0.539707908892952 1.0 1.0 23 P49327,P49257,P22681,P52701 4 |
| Abnormality of immune serum protein physiology 0.4887299392355005 0.6108538142714671 0.5412963632550192 1.0 1.0 5 P49327 1 |
| Otitis media 0.3158711490168347 0.6103977361711385 0.5415983674146032 1.0 1.0 47 P54132,Q12830,O60934,Q9Y4P3,Q9H0U3,P40763,Q5H8A4,P21333,O00203,Q86Y56,P28482,P50851,P00813,P78347,Q92785 15 |
| Unsteady gait 0.3325335090095653 0.6099826623387588 0.54187329260259 1.0 1.0 39 Q12756,Q96C86,O95319,P12004,O75787,Q05639,P49588,P49770,O60231,P53597,Q69YN2,P43243,Q13144,Q00610,P38606 15 |
| Abnormality of the extraocular muscles 0.7849025974025963 0.6099762239123966 0.5418775576587282 1.0 1.0 2 Q9BVA1 1 |
| Bilateral ptosis 0.3775191545321237 0.6098027025352215 0.5419925110635819 1.0 1.0 13 P40763,Q15149,O75306 3 |
| Bowing of the arm 0.5289301920565292 0.6051232545266683 0.5450971039539962 1.0 1.0 4 P21333 1 |
| Abnormality of the clitoris 0.3491551711066297 0.6022196412742948 0.5470279431521612 1.0 1.0 15 Q8IY37 1 |
| Memory impairment 0.3387855037335385 0.6001747916697403 0.5483897518394831 1.0 1.0 27 P52701,P54886,P49770,P21359,Q13144,P26358,P49327 7 |
| Blepharophimosis 0.3335366763730159 0.5974344341412974 0.5502173696229351 1.0 1.0 37 Q03164,Q12830,O60701,Q9Y4P3,P46109,Q8IWS0,P28482,P55011,Q13620,Q86W42,Q9BZK7,Q7Z6Z7,P38606,P78347,Q08J23 15 |
| Abnormal vitamin b12 level 0.6653589201135335 0.5947243873614891 0.5520277174831472 1.0 1.0 3 P11586 1 |
| Carious teeth 0.3342707455395406 0.5946041613930162 0.5521080977645556 1.0 1.0 36 Q7Z2Z2,Q9Y4P3,P18074,P19447,P53992,Q15436,P26639,O00203,P61011,Q15149,Q86W42,Q9NW13,P38606,P78347 14 |
| Abnormal circulating monocarboxylic acid cocentration 0.465555067541766 0.5925357972050558 0.5534918570553689 1.0 1.0 6 Q9H3U1,P61011,Q7Z2Z2 3 |
| Abnormality of the incisor 0.3311313687296598 0.5923317096973477 0.5536284859744911 1.0 1.0 19 P54132,Q12830,Q14683,P55011,A5YKK6,Q7Z6Z7 6 |
| Cone shaped epiphysis 0.4655046690120496 0.5923283960666577 0.5536307044620303 1.0 1.0 6 P21333 1 |
| Nevus 0.3377597461507901 0.5923149338826128 0.5536397174869361 1.0 1.0 28 P78347,Q06124,Q9Y4P3,P19447,P10644,P22681,Q15437,Q9NW13,Q9UQE7,P11802 10 |
| Abnormal motor nerve conduction velocity 0.3473485899438337 0.5917007970381051 0.5540509627394072 1.0 1.0 15 P31930,Q96T60,Q9Y6X9,P48643,O15121,Q9Y3E5,Q14204 7 |
| Oral pharyngeal dysphagia 0.4176847027710137 0.5907822780803539 0.5546663106960485 1.0 1.0 8 Q14204,Q00610,Q05639 3 |
| Developmental cataract 0.3107041375555747 0.5900498539512067 0.5551572265935119 1.0 1.0 48 P42766,Q07020,P19447,P26639,P54886,P18077,P62899,P61313,P36507,P60866,P08708,Q9UN37 12 |
| Abnormality of the tarsal bones 0.3330671856682518 0.5889807452905486 0.5558741901595892 1.0 1.0 21 Q9NXE4,O75787,O75369,P18074,Q9Y617,P21333,P98175,Q92979 8 |
| Failure of eruption of permanent teeth 0.7780032467532532 0.5884659471920423 0.5562195841729205 1.0 1.0 2 A6NHR9 1 |
| Capitate hamate fusion 0.7780032467532492 0.58846594719203 0.5562195841729287 1.0 1.0 2 P21333 1 |
| Spondylolysis 0.7780032467532492 0.58846594719203 0.5562195841729287 1.0 1.0 2 P21333 1 |
| Talipes equinovalgus 0.7780032467532454 0.5884659471920167 0.5562195841729376 1.0 1.0 2 Q9Y3E5 1 |
| Oculomotor apraxia 0.3433010969333225 0.588286194350523 0.5563402105831723 1.0 1.0 16 Q9NQT5,Q96T60,P46109,Q69YN2,O96008 5 |
| Abnormal aortic valve cusp morphology 0.3327609251504776 0.5870535066707837 0.5571677716069532 1.0 1.0 21 Q15477,P31153,Q9Y4P3,Q6PGP7,Q14738,P21333,P22681,Q9UQE7,P78347 9 |
| Generalized hyperreflexia 0.4826960334348851 0.5866925062793591 0.5574102415420095 1.0 1.0 5 P19447,P26639,P13639 3 |
| Progressive sensorineural hearing impairment 0.4167467933254234 0.5864605973768146 0.5575660328361456 1.0 1.0 8 Q9UM54,P33993 2 |
| Abnormal morphology of the abdominal musculature 0.4164641932650265 0.5851600674997464 0.5584400926291984 1.0 1.0 8 Q69YQ0,P22681,Q06124,O75369 4 |
| Abnormality of the pharynx 0.3291069955927777 0.5845952610498726 0.5588198949099081 1.0 1.0 39 P54132,O60934,Q13428,P29372,Q9H0U3,P40763,Q86Y56,P61011,P43243,P50851,Q96GM5,Q93008,P51532,P00813,Q92785 15 |
| Abnormal ovarian morphology 0.3329598877961298 0.5818254508712027 0.5606842590793766 1.0 1.0 22 Q9Y4P3,Q8IY37 2 |
| 11 pairs of ribs 0.4629107602584357 0.5816796621355252 0.5607824731201101 1.0 1.0 6 O75369,Q96T58,P21281 3 |
| Abnormal circulating serine family amino acid concentration 0.4102880452397381 0.5790272067832314 0.562570815520562 1.0 1.0 9 P05165 1 |
| Abnormal nasal base 0.3836799837792881 0.5786195761344773 0.5628458927452349 1.0 1.0 12 Q96ST3,Q93008,P51532,Q92785 4 |
| Hypoplasia of the corpus callosum 0.3848759655578161 0.5753558315022103 0.565050669243607 1.0 1.0 149 P26640,P07814,Q5T440,Q05639,P17480,P51659,P78527,Q9NR45,P24928,P51571,P43034,P35606,P14868,Q93008,Q9BW92,Q5JPH6,Q7Z6Z7,P38606,Q93009,P08243,P49591,Q8TD16,P36507,Q13813,Q9UPN3,Q08J23,Q14204,Q12756,Q96C86,P26196,Q9Y617,P55265,P21359,Q00610,Q9BVA1,Q9HA77,Q6ZXV5,Q96F86,Q9H270,Q8IYI6,O43776,O75787,P18583,Q9NZ01,Q14683,Q96ST3,Q96T60,Q9Y4A5,Q5H8A4,Q15042,P46821,P55011,Q9UID3,Q01105,Q13620,Q96N66 56 |
| Limb hypertonia 0.3343950321173917 0.574520371558162 0.5656157191866378 1.0 1.0 32 O95319,Q05639,P17480,P54886,P05165,Q00610,P42695,Q9BW92,P38606 9 |
| Adducted thumb 0.3280968558855135 0.5735034216133896 0.5663038830383078 1.0 1.0 19 Q8NBU5,P54886,Q9Y4P3 3 |
| Increased nuchal translucency 0.357468763337621 0.5713149346231577 0.5677861798914949 1.0 1.0 14 P78347,Q9UQE7,Q9Y4P3,Q14683 4 |
| Aortic arch aneurysm 0.460107521390901 0.5702295918104047 0.5685219879528822 1.0 1.0 6 P78347,Q9Y4P3 2 |
| Gait ataxia 0.2926422561144117 0.5687019655330441 0.5695584137112222 1.0 1.0 53 O43776,P27635,O15020,P12004,Q14683,P17480,P19447,P35251,P51659,P26639,P54886,P55265,Q5H8A4,Q69YN2,Q9UID3,Q13620,P12235,P13639 18 |
| Platyspondyly 0.3339177865481297 0.5683236861382459 0.569815198487851 1.0 1.0 27 P21333,Q9NR45,Q8IY37,O00469,Q6NW34 5 |
| Abnormality of adrenal physiology 0.3330952628219272 0.5682969407746304 0.5698333559475084 1.0 1.0 25 Q7Z392,P10644,P51659,P33991,Q8IY37,Q13618 6 |
| Decreased patellar reflex 0.6563868713583296 0.5657250318105654 0.5715807160599466 1.0 1.0 3 Q14204 1 |
| Short digit 0.3478662011834107 0.5618934257941126 0.5741886331360728 1.0 1.0 120 P27635,P21333,P51610,Q06136,P61313,Q93008,Q7Z6Z7,P08708,Q9NVI1,Q6NW34,Q03164,Q12830,O75369,P42766,Q99575,O60488,P18077,Q8IWS0,P22681,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q96C86,Q9BZI7,P10644,P46109,P28482,Q07020,P00813,Q15437,Q06124,Q14683,Q96ST3,Q96T60,Q5H8A4,P62899,P55011,Q13620,Q96GM5,Q9UQE7 42 |
| Delayed cns myelination 0.3324192414340575 0.5611482615774883 0.5746964700810779 1.0 1.0 32 O60701,O43776,O14617,O75787,P26196,Q9BY32,Q9Y6X9,P24928,Q15042,Q8IY37,P22033,Q13618,Q9H270,Q8IYI6 14 |
| Cough 0.3284097579764027 0.5598949852012345 0.5755510695138997 1.0 1.0 21 P53621,P10644,P35251,P40763,Q86Y56,Q9NSD9,Q9BZK7,P15924 8 |
| Aplasia hypoplasia of the skin 0.3167266449672782 0.5593825207806842 0.575900687873423 1.0 1.0 44 Q14692,P18074,P19447,P28340,P10644,P54886,P21333,Q5H8A4,Q96T58,P46821,P53701,O00170,Q15334,Q13620,Q15149,Q15392,Q6ZXV5,P15924 18 |
| Abnormality of the calf 0.3012550654534752 0.559229772844331 0.5760049164200503 1.0 1.0 50 Q7Z2Z2,Q9Y4P3,Q9NR45,Q9NWH9,P21359,P36507,O00469,Q6NW34 8 |
| Abnormal ovarian physiology 0.3282890875870008 0.5591478661240682 0.5760608096700335 1.0 1.0 21 P54132,O60934,P49770,O00170,Q13144,Q86W42,P49327 7 |
| Abnormal oral frenulum morphology 0.3798043890548157 0.559024811351733 0.5761447872148617 1.0 1.0 12 Q69YQ0,P46109,P21333 3 |
| Microdontia 0.3301661935921481 0.5585877226101106 0.576443120916583 1.0 1.0 23 Q15436,Q92785 2 |
| Ragged red muscle fibers 0.3676941176496475 0.5577728977884148 0.576999471781036 1.0 1.0 13 Q5JPH6,Q9H2D1 2 |
| Hamartoma 0.3378417944880907 0.556392460049655 0.5779425921949617 1.0 1.0 16 P21359,Q15437 2 |
| Abnormal prostate morphology 0.4747605062224673 0.5553202949305602 0.5786755996092561 1.0 1.0 5 O60934,Q8IWS0,Q92878 3 |
| Abnormal ventricular septum morphology 0.3431626793194476 0.5549220891882879 0.5789479522461936 1.0 1.0 117 P27635,Q8N5F7,P19447,P53701,P61313,Q86W42,P29401,P08708,Q9NVI1,P78347,P42766,P18077,P36507,Q14839,P60866,P51532,Q69YQ0,Q92785,O75306,Q9Y4P3,Q6PGP7,P26639,P46109,P21359,P28482,Q07020,Q06124,Q9H267,Q14683,Q96T60,P62899,P55011,Q96GM5,Q7LBC6 34 |
| Patent foramen ovale 0.3284864018217175 0.55382428083743 0.5796991093790897 1.0 1.0 22 P26196,Q9Y4A5,P21359,P53597,P29401,Q9NVI1 6 |
| Neoplasm of the endocrine system 0.3297940001152676 0.5510375357187164 0.5816079437122841 1.0 1.0 34 Q9UPY3,P52701,P49327,P21359,P60866,P51532,Q15437,Q92785 8 |
| Abnormal aggressive impulsive or violent behavior 0.2969154557177124 0.5499597867631172 0.5823469556466632 1.0 1.0 85 Q4G0J3,P55795,P27635,Q05639,P17480,Q8N5F7,Q93008,P29401,Q03164,Q12830,Q93009,P49591,P51532,Q14204,Q12756,Q92785,P53597,P28482,Q00610,Q9H269,Q96ST3,Q96T60,Q14738,Q96T58,Q01105,Q6KC79,Q13620,Q96GM5,Q7LBC6 29 |
| Infantile muscular hypotonia 0.2756821071348683 0.549724260912935 0.5825085139671133 1.0 1.0 57 P27635,Q7Z2Z2,Q7Z392,Q14683,Q96T60,Q9Y617,O95169,P53597,Q69YN2,Q92785,Q96GM5,Q93008,Q9BVA1,P51532,P38606,P22314,O75306 17 |
| Abnormality of the tonsils 0.4732429367085884 0.5493759088624798 0.5827475034636875 1.0 1.0 5 P54132,P00813 2 |
| Open bite 0.3399787011142602 0.5493667680330224 0.5827537752132024 1.0 1.0 15 P78347,P10644,Q13428,Q9Y4P3 4 |
| Abnormality of mouth size 0.3161721635418 0.5492977364240044 0.5828011405271212 1.0 1.0 98 P55795,P27635,P21333,P51571,P43034,Q7Z6Z7,P78347,Q12830,Q13428,P53992,Q15436,P54886,P51532,Q08J23,Q92785,Q96C86,Q9Y4P3,Q6PGP7,P26196,P28340,Q15046,P46109,P28482,Q15392,P33992,P18583,P42345,Q96ST3,Q9Y4A5,Q15042,P55011,Q01105,Q13620,Q96GM5,Q7LBC6 35 |
| Gait imbalance 0.3363387544418453 0.5477097129260591 0.5838912417596533 1.0 1.0 16 P78347,Q5H8A4,Q9Y4P3,Q14839 4 |
| Hypercalcemia 0.3396823481257535 0.5476847447785554 0.5839083887631094 1.0 1.0 15 Q9Y4P3 1 |
| Eeg with focal epileptiform discharges 0.3303943628599717 0.5475533546244268 0.5839986254892633 1.0 1.0 32 Q96C86,Q9NZ01,Q96T60,Q9Y617,P49591,P55011,P42704,Q9HA77,Q96F86,Q08J23,Q96N66 11 |
| Aplasia hypoplasia of the scapulae 0.6498372425806767 0.5448561135805001 0.5858524819520909 1.0 1.0 3 P21333 1 |
| Deep plantar creases 0.4532302966342136 0.542406054293272 0.5875388098384695 1.0 1.0 6 P42345,O00170,Q9BZK7 3 |
| Bladder diverticulum 0.4530906579341335 0.5418451823232403 0.58792516274104 1.0 1.0 6 Q9Y4P3 1 |
| Impaired horizontal smooth pursuit 0.7625811688311676 0.541361982520967 0.5882581058587335 1.0 1.0 2 P13639 1 |
| Axonal loss 0.7625811688311676 0.541361982520967 0.5882581058587335 1.0 1.0 2 P17480 1 |
| Oral cavity bleeding 0.4107189496374673 0.5384571408571671 0.5902614865816336 1.0 1.0 7 P10644,P40763,Q9BZK7 3 |
| Abnormality of refraction 0.340036024288457 0.5379537576287824 0.590608973789533 1.0 1.0 116 P26640,P27635,P07814,Q7Z2Z2,P19447,P21333,Q86W42,Q93008,Q7Z6Z7,P38606,Q9NVI1,P78347,Q93009,Q12830,Q8N201,O60488,P54886,P98175,P36507,Q14839,P51532,Q08J23,Q92785,Q9Y4P3,P26196,P26639,Q92974,Q15437,Q06124,P18583,P18074,Q14683,Q96ST3,O75533,Q14738,Q5H8A4,Q96T58,P55011,P12235,Q96GM5,Q7Z392,Q9UQE7 42 |
| Femoral bowing 0.4009508394598915 0.5359583754015533 0.5919873184326676 1.0 1.0 9 O00469,Q6NW34 2 |
| Bloody diarrhea 0.646882328321643 0.5355278303295793 0.5922849184380086 1.0 1.0 3 Q6PGP7 1 |
| Abnormal serum iron concentration 0.646882328321643 0.5355278303295793 0.5922849184380086 1.0 1.0 3 Q6PGP7 1 |
| Uplifted earlobe 0.6467240160630756 0.5350296190695746 0.5926293761004964 1.0 1.0 3 Q96GM5 1 |
| Short chin 0.400716658482218 0.5348903647788643 0.5927256713744806 1.0 1.0 9 P42345,Q96J02,P78527,P21333,Q08J23 5 |
| Aphasia 0.3289295711321151 0.5341420788899083 0.5932432388708637 1.0 1.0 29 Q12830,Q13428,P17480,P53992,Q9H9P8,P55011,P53701,O96008,Q15149,Q7Z6Z7 10 |
| Micropenis 0.2885886029015343 0.5326792619763017 0.5942556240210113 1.0 1.0 53 Q07864,P78527,P53701,Q86W42,Q8IY37,Q7Z6Z7,P38606,Q93009,Q8IWS0,Q9BZK7,Q14839,P26196,P55265,P22314,Q06124,Q96ST3,Q96T60,Q8TCJ2,A6NHR9,Q13620 20 |
| Autistic behavior 0.3812486312584467 0.5314734677785908 0.5950907225268485 1.0 1.0 150 P55795,P27635,O95319,Q7Z2Z2,Q05639,P17480,P24928,P51610,P61011,Q9HCK8,Q93008,Q13618,P63241,Q7Z6Z7,P38606,P78347,P62266,Q93009,Q12830,Q8N201,O60488,P49588,P53992,P54886,P49591,Q15334,P51532,Q69YQ0,Q08J23,Q92785,Q12756,Q14204,O75306,Q96C86,Q9BZI7,Q9Y4P3,P26196,P10644,O14646,P21359,Q00610,Q9HA77,Q96F86,Q15437,P18583,Q9NZ01,P42345,Q14683,P54136,Q96ST3,Q9Y4A5,Q14738,Q96T60,Q96T58,Q5H8A4,P46821,P55011,Q01105,Q96GM5,Q7LBC6,Q9UQE7,Q96N66 62 |
| Pes cavus 0.2715293977357219 0.5313808617377589 0.5951548809641294 1.0 1.0 70 Q5T440,P51659,P07384,Q9Y6X9,P21333,Q93008,Q7Z6Z7,Q12830,P12004,P49588,P54886,Q08J23,Q14204,P23381,P26196,Q15046,P21359,O43776,Q96T60,Q96T58,P46821,Q13620,P55011,Q7Z392 24 |
| Cupped ribs 0.4683301731356786 0.530259952940033 0.5959317086203761 1.0 1.0 5 P00813,P22314 2 |
| Specific learning disability 0.2914242699695122 0.5285631286144613 0.5971085437380996 1.0 1.0 52 P54132,Q12830,Q14683,P10644,Q96T60,P48506,Q9Y6X9,P54886,P21359,P46821,P61011,P53701,P36507,Q9NSD9,Q86W42,Q9BVA1,P62266 17 |
| Increased bone mineral density 0.3232236342001556 0.5280945584514222 0.5974337074579239 1.0 1.0 21 Q9Y4P3,P19447,P21333,Q15392,P78347 5 |
| Abnormality of the plantar skin of foot 0.3254398434930446 0.5265112153586219 0.598533061637494 1.0 1.0 35 P18206,Q06136,P36507,Q15149,Q7Z392,P15924,Q15437 7 |
| Abnormal circulating sex hormone concentration 0.3228009047987349 0.5255310594182284 0.5992140676818174 1.0 1.0 21 P49770,Q8IY37 2 |
| Hypertelorism 0.3936991525561005 0.5255156399544095 0.5992247838307265 1.0 1.0 162 P55795,O95602,P19447,P51659,P21333,P24928,P43034,P61313,Q9HCK8,Q8IY37,P63241,Q7Z6Z7,P08708,Q9NVI1,P38606,Q03164,Q12830,Q13428,O75369,Q8N201,P42766,P53992,Q15436,P40763,P54886,P18077,P98175,P22681,P36507,Q9BZK7,Q14839,P60866,Q69YQ0,Q08J23,Q92785,Q9UPY3,Q6PGP7,P26196,P29372,Q9Y617,P10644,P26639,P21359,P28482,P55263,Q07020,O43776,Q06124,P18074,P42345,Q96ST3,Q9Y4A5,Q14738,Q9NRZ9,Q5H8A4,P62899,A6NHR9,P55011,Q9UID3,Q01105,Q96GM5,Q9Y3E5,P42704 63 |
| Thoracic aortic aneurysm 0.3246944017721319 0.5246656233957012 0.5998156587603112 1.0 1.0 23 Q12830,Q9Y4P3,P26196,Q8N5F7,P55011,Q7Z6Z7,P78347 7 |
| Fibular aplasia 0.6427121396670589 0.5224580295345231 0.6013514614645326 1.0 1.0 3 O75369,P21333 2 |
| Overweight 0.4661867285237013 0.5219824823531896 0.6016825274622521 1.0 1.0 5 Q9HCK8 1 |
| Abnormal serum insulin like growth factor 1 level 0.756087662337661 0.5219584550488623 0.6016992569505097 1.0 1.0 2 O00170 1 |
| Adrenocorticotropin deficient adrenal insufficiency 0.756087662337661 0.5219584550488623 0.6016992569505097 1.0 1.0 2 O00170 1 |
| Short long bone 0.3232344777533461 0.5215543009853537 0.6019806886912107 1.0 1.0 22 O75369,P10644,P21333,Q9NWH9,P98175,P53597,Q9NVI1 7 |
| Truncal ataxia 0.3343040326857985 0.5174481641825517 0.6048433450911728 1.0 1.0 15 Q69YN2,Q7Z392,O15020 3 |
| Abnormality of the upper arm 0.3272449729671682 0.5167018872121335 0.6053642784610023 1.0 1.0 17 P53597,O14979,Q9Y6X9,P21333 4 |
| Increased hepatic glycogen content 0.6402586379206638 0.5148216016611059 0.606677688850163 1.0 1.0 3 P06737 1 |
| Recurrent skin infections 0.3912826410111312 0.5138638295241033 0.6073471976450646 1.0 1.0 10 Q9Y4L1,P40763,O00203 3 |
| Neuronal loss in basal ganglia 0.5033244205785884 0.5112149470715099 0.6092005534686877 1.0 1.0 4 O75306 1 |
| Psychogenic non epileptic seizure 0.3204085492322416 0.5111076900204005 0.6092756514741859 1.0 1.0 21 P21359,Q7Z6Z7,Q14683 3 |
| Pruritus 0.3217339168624916 0.5082334220445858 0.6112896546666371 1.0 1.0 18 P14324,P40763,P22681,P15924,P00813 5 |
| Aplasia hypoplasia of the thyroid gland 0.4625939073585573 0.5081965426776386 0.6113155152426273 1.0 1.0 5 Q13428,O14654 2 |
| Vertebral segmentation defect 0.3228023361682285 0.5080848056311926 0.611393870532771 1.0 1.0 24 Q9Y4P3,P63241,Q9NVI1 3 |
| Flat nasal alae 0.750811688311695 0.5063912332364763 0.6125820276851699 1.0 1.0 2 P19447 1 |
| Abnormality of amino acid metabolism 0.750811688311695 0.5063912332364763 0.6125820276851699 1.0 1.0 2 P19447 1 |
| Esodeviation 0.3244312407458182 0.5062436873121368 0.612685589578811 1.0 1.0 28 Q93009,Q12830,P18583,P18074,P19447,P26639,Q15436,Q7Z6Z7 8 |
| Migraine 0.3253317428173875 0.5057514222555223 0.613031164400893 1.0 1.0 17 P49327,P52701,P21359,P12235,P60866 5 |
| Gingivitis 0.6372105368639167 0.5053905248134085 0.6132845725592098 1.0 1.0 3 P40763 1 |
| Generalized dystonia 0.6370280146163259 0.5048277810669869 0.6136798015721645 1.0 1.0 3 P82663,P42704 2 |
| Narrow forehead 0.3179872534503101 0.5047043038812318 0.6137665377156105 1.0 1.0 39 Q9NXE4,O75787,P18583,Q14683,P26196,Q14738,P21359,P28482,Q15042,P55011,P36507,Q96GM5,Q93008 13 |
| Depressed nasal tip 0.6365170170092688 0.5032535072143337 0.6147860496777595 1.0 1.0 3 P21333 1 |
| Recurrent respiratory infections 0.3225657498138308 0.5020755067465785 0.6156144086171607 1.0 1.0 106 Q07864,P54132,O14617,P19447,P78527,P21333,P24928,Q93008,P14174,P78347,Q6NW34,O60934,Q9H0U3,P40763,O00203,P50851,P33991,P51532,Q92785,Q9Y4P3,P11586,P26639,P46109,Q86Y56,P53597,P28482,P00813,P48506,Q9NRZ9,Q5H8A4,Q9UID3,Q15149 32 |
| Renal hypoplasia 0.3208139709320644 0.5010679023691661 0.6163233355163791 1.0 1.0 23 P78347,P33992,Q6PGP7,Q9Y4P3,P53992,Q9Y4A5,Q6KC79,Q9NVI1 8 |
| Abnormality of the nasal dorsum 0.3108817006672781 0.5000904241062201 0.6170114085063658 1.0 1.0 43 O60934,P27635,Q6PGP7,Q14683,Q9Y617,P54886,Q12797 7 |
| Aplasia hypoplasia of the uvula 0.6349979699553222 0.4985842235589478 0.6180723216366333 1.0 1.0 3 Q6DKJ4,Q9NVI1 2 |
| Carpal synostosis 0.4418283335243539 0.4971777531370319 0.6190637081126822 1.0 1.0 6 O75369,Q6DKJ4,P21333 3 |
| Synostosis of carpals tarsals 0.4418283335243539 0.4971777531370319 0.6190637081126822 1.0 1.0 6 O75369,Q6DKJ4,P21333 3 |
| Reduced renal corticomedullary differentiation 0.7463474025974148 0.4933622098695233 0.6217566791793716 1.0 1.0 2 O60231 1 |
| Abnormal renal corticomedullary differentiation 0.7463474025974148 0.4933622098695233 0.6217566791793716 1.0 1.0 2 O60231 1 |
| Rigidity 0.3131463634497954 0.491248240947666 0.6232508829574184 1.0 1.0 41 P31930,O95319,Q6Y7W6,O75165,Q05639,P17480,P49588,P49792,P55265,Q8NBU5,P12235,Q00610,Q15392,Q14203,P38606,Q04637 16 |
| Capillary malformation 0.3660560691151839 0.4911828417215325 0.6232971334779562 1.0 1.0 12 Q9Y4P3 1 |
| Abnormality of the supraorbital ridges 0.3156099035542788 0.4900437494609795 0.6241029409656234 1.0 1.0 20 Q6PGP7,Q15436,P21333,P98175,P36507,Q9HCK8 6 |
| Large hands 0.3898386161602571 0.4859909790888991 0.6269735618483336 1.0 1.0 9 P21359,Q9Y617,P08243 3 |
| Cerebral cortical atrophy 0.2764834866421155 0.4858789735709617 0.627052977095826 1.0 1.0 76 P26640,P17480,P19447,P43034,O96008,Q7Z6Z7,P78347,Q12830,P54886,Q8TD16,P36507,Q69YQ0,Q12756,Q9Y4P3,P26196,P26639,Q6Y7W6,O75165,P18074,Q14683,Q9Y4A5,Q96T58,Q15042,P55011,Q6KC79,Q9UQE7,Q04637 27 |
| Elfin facies 0.4386085784986129 0.4846248840073113 0.627942458873683 1.0 1.0 6 P78347,Q9Y4P3 2 |
| Abnormal toenail morphology 0.310504146953186 0.4842413908137312 0.6282145651693483 1.0 1.0 42 P23786,O60832,O00170,Q9NX24,P63241,P78347,P21281,Q14739,P51532,P15924,Q08J23,Q92785,Q12756,Q9Y4P3,P46109,P28482,Q15022,Q14738,Q15042,Q96GM5 20 |
| Deviation of toes 0.3206866300526391 0.4840202545238757 0.6283714946484409 1.0 1.0 32 Q93009,Q12830,Q9BZI7,Q9Y4P3,O60488,P21333,P51610,P55011,Q93008,Q7Z6Z7,P78347 11 |
| Metrorrhagia 0.4381475126922618 0.4828356171616088 0.6292124590255528 1.0 1.0 6 P10644,P40763,Q9BZK7 3 |
| Diffuse alveolar hemorrhage 0.4381475126922618 0.4828356171616088 0.6292124590255528 1.0 1.0 6 P10644,P40763,Q9BZK7 3 |
| Addictive behavior 0.4381475126922618 0.4828356171616088 0.6292124590255528 1.0 1.0 6 P10644,P40763,Q9BZK7 3 |
| Disseminated intravascular coagulation 0.4381475126922618 0.4828356171616088 0.6292124590255528 1.0 1.0 6 P10644,P40763,Q9BZK7 3 |
| Meningioma 0.3978049949409241 0.4821726301807496 0.6296833181130213 1.0 1.0 7 P21359 1 |
| Right ventricular cardiomyopathy 0.4949277382284058 0.4815094266035998 0.6301544816483604 1.0 1.0 4 P15924 1 |
| Stereotypical hand wringing 0.494839033442646 0.4811987767018494 0.6303752302089496 1.0 1.0 4 Q14683 1 |
| Fat malabsorption 0.4374183762018354 0.4800103438131605 0.6312200379266097 1.0 1.0 6 Q7Z2Z2,Q9Y3E5 2 |
| Multiple renal cysts 0.3524366007949009 0.4798383797005231 0.6313423200372379 1.0 1.0 13 P78347,O75369,Q9Y4P3,O60231 4 |
| Frequent falls 0.3183424111432811 0.4790835943837254 0.631879160290465 1.0 1.0 35 Q14204,P27635,O75165,Q69YN2,Q04637 5 |
| Abnormal shape of the occiput 0.3136845986714119 0.4787883185233245 0.6320892277801953 1.0 1.0 20 Q9Y617,P21333,P62266 3 |
| Abnormal sternum morphology 0.3072814228800162 0.4784914251719069 0.6323004759429631 1.0 1.0 97 P55795,P17480,Q8N5F7,P51659,P21333,P24928,Q7Z6Z7,P78347,Q6NW34,Q03164,Q8N201,P54886,P98175,Q9Y4L1,P22681,P36507,Q9NSD9,Q69YQ0,Q08J23,Q9BZI7,Q9Y4P3,P21359,Q15437,O43776,Q06124,Q14683,Q9NWH9,P55011,Q9UQE7,O00469 30 |
| Abnormality of the calf musculature 0.37375559996988 0.4780332805477343 0.6326265179109052 1.0 1.0 11 Q7Z392,O60231 2 |
| Uncombable hair 0.7406655844155847 0.4769753917048984 0.6333796449764173 1.0 1.0 2 Q6PGP7 1 |
| Open mouth 0.318815690751273 0.4761209473380398 0.6339882143657054 1.0 1.0 26 P10644,Q8N5F7,Q00610,P62266 4 |
| Aplastic anemia 0.3962743930501844 0.4756286084055172 0.6343389902818308 1.0 1.0 7 O60934,O76094,Q7Z2Z2 3 |
| Abnormal circulating nitrogen compound concentration 0.3055745604569403 0.4754447492948279 0.6344700051535501 1.0 1.0 44 P49257,Q96RQ3,P50747 3 |
| Pectus carinatum 0.3193274674556831 0.4753556958110547 0.6345334672671621 1.0 1.0 32 P55795,Q9BZI7,Q06124,P17480,Q8N5F7,P21359,Q9Y4L1,P55011,P22681,O00469 10 |
| Aplasia hypoplasia of the cerebellum 0.3264642390695395 0.4747779334001882 0.6349452628745662 1.0 1.0 111 Q9NXE4,P55795,P27635,P78527,P21333,P43034,Q8IY37,Q93008,P38606,Q8N201,P08243,P98175,P36507,Q9UPN3,P51532,Q69YQ0,Q9UN37,Q14204,Q92785,Q9Y617,Q69YN2,Q9BVA1,Q9HA77,Q14683,Q9H9P8,Q9Y4A5,Q5H8A4,Q15042,Q9UID3,Q96GM5,Q9UQE7 31 |
| Prominent nasal bridge 0.3168527811155509 0.4745331173715987 0.6351197876543915 1.0 1.0 36 O60934,Q9BZI7,O95602,Q14683,Q96ST3,Q15436,Q9Y4A5,P46109,P28482,Q9UQE7,Q69YQ0,Q08J23 12 |
| Tetralogy of fallot 0.3187159272760527 0.4738630801450192 0.6355975483581191 1.0 1.0 33 Q9Y4P3,Q6PGP7,P53992,Q96T58,P98175,P51532,Q96GM5,Q14839,Q9NVI1,Q69YQ0,P78347,Q92785 12 |
| Cerebral inclusion bodies 0.3818930412464794 0.4714346194739425 0.6373303985746626 1.0 1.0 10 O75165 1 |
| Underdeveloped supraorbital ridges 0.3818579020289697 0.4712780363858288 0.6374421980688201 1.0 1.0 10 P98175,P36507,Q6PGP7 3 |
| Depressed nasal bridge 0.3566890275299149 0.4691750553724125 0.6389445139975876 1.0 1.0 135 Q07864,P26640,Q9NXE4,Q05639,P51659,P21333,P51610,A5YKK6,P61313,Q93008,Q7Z6Z7,P08708,Q6NW34,P62266,Q12830,O60934,O75369,P42766,P18077,P22681,P36507,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q9UPY3,Q9BZI7,P10644,Q9Y617,P21359,Q15392,Q07020,Q14683,Q96ST3,Q96T60,Q9Y4A5,Q9NRZ9,Q5H8A4,P62899,P55011,Q15042,P35573,Q13620,Q96GM5,Q9UQE7 46 |
| Hip dislocation 0.2902116043017585 0.4683635406015577 0.6395246362650435 1.0 1.0 50 Q14807,Q9NQT5,O75369,Q14683,P49588,P54886,P21333,Q14738,P43034,Q8TD16,Q8NBU5,P55011,Q93008,Q9UQE7,Q9Y3E5,P38606,Q9NVI1 17 |
| Insomnia 0.3811257208124119 0.4680192552539247 0.6397708199301329 1.0 1.0 10 Q14203,Q9Y4P3 2 |
| Focal motor seizure 0.3146563534921443 0.4677189772477034 0.6399855682253546 1.0 1.0 18 O14617,Q05639,P43034,Q00610,Q14204 5 |
| Abnormal preputium morphology 0.737418831168853 0.4677123222294358 0.639990328002646 1.0 1.0 2 Q9NVI1 1 |
| Right ventricular dilatation 0.7366071428571698 0.4654082174026566 0.6416391506252535 1.0 1.0 2 Q7Z392 1 |
| Auditory hallucinations 0.7366071428571412 0.4654082174025769 0.6416391506253105 1.0 1.0 2 P18583 1 |
| Abnormality of the midface 0.351007936700586 0.4623484152180029 0.643831485356666 1.0 1.0 131 Q07864,P54132,P55795,O95602,Q8N5F7,P21333,P51610,P53701,O00170,Q8IY37,Q93008,P38606,Q6NW34,O60934,Q12830,Q13428,O75369,Q8N201,Q99575,O60488,P53992,Q15436,P54886,Q8TD16,P22681,P36507,Q9BZK7,Q9P2J5,Q69YQ0,Q12756,Q9BZI7,P10644,O14646,P46109,P21359,P28482,Q14807,Q06124,P18583,Q14683,P42345,Q14738,A6NHR9,Q15042,P35573,Q9Y3E5,P42704 47 |
| Abnormal acetabulum morphology 0.3364764096105033 0.459840716039377 0.6456305556228334 1.0 1.0 14 Q14839,O95602,O00203,Q9NR45 4 |
| Abnormal labia morphology 0.3235234359310938 0.4586168296615358 0.6465093489043365 1.0 1.0 15 Q8IY37,Q14683 2 |
| Bulbous nose 0.3157766552357162 0.4582785248591278 0.6467523506868087 1.0 1.0 34 Q9NXE4,Q8N201,P63241,Q9Y4A5,Q13620,Q96GM5,Q9UQE7,Q93008,Q7Z6Z7,P38606 10 |
| Delayed eruption of teeth 0.3084264505429532 0.4581470384905788 0.6468468065203354 1.0 1.0 41 Q7Z2Z2,Q9BZI7,Q14683,P10644,Q15436,P40763,P21333,P51610,P61011,Q96GM5,Q9UQE7,Q93008,P51532,Q08J23,Q92785 15 |
| Depressed nasal ridge 0.316773751280016 0.4578154606299115 0.6470850272994741 1.0 1.0 17 P10644,Q9Y617,Q6PGP7,Q14683 4 |
| Leukoencephalopathy 0.2795933620276459 0.4562990381148267 0.6481749555394902 1.0 1.0 80 P27635,Q05639,P19447,Q9Y6X9,P49770,P14868,P11498,Q13144,Q5JPH6,Q93009,P54886,O75306,Q14204,P26639,Q15046,P53597,Q00610,P22314,Q9H9P8,Q01105,O15121 21 |
| Morphological abnormality of the corticospinal tract 0.3684765345454442 0.4538307799894685 0.6499506278182312 1.0 1.0 11 Q14203,Q9Y4P3 2 |
| Progressive hearing impairment 0.3822969173764397 0.4529658665120025 0.6505733204808941 1.0 1.0 9 Q9UM54,P33993 2 |
| Short middle phalanx of finger 0.4860265761587226 0.4506831936994118 0.6522178968327208 1.0 1.0 4 Q03164,Q6NW34 2 |
| Congenital hip dislocation 0.3122073470207993 0.4501999820939334 0.6525662491911848 1.0 1.0 23 Q14807,P54886,P21333,P43034,Q8TD16,Q93008,Q9Y3E5,P38606 8 |
| Benign neoplasm of the central nervous system 0.3070743047648079 0.4490452525691494 0.6533990127607923 1.0 1.0 19 P21359,Q15437 2 |
| Abnormality of the alveolar ridges 0.4850421494770829 0.4473180561487229 0.6546454318083987 1.0 1.0 4 Q15392 1 |
| Glossoptosis 0.4287877835531902 0.4469813030263695 0.654888559628299 1.0 1.0 6 Q13428,P21333 2 |
| Short sternum 0.61740109125225 0.4456985785316456 0.6558149915161056 1.0 1.0 3 P98175 1 |
| Chronic otitis media 0.3060631359293353 0.443353099982474 0.6575103535473259 1.0 1.0 19 Q9Y4P3,P40763,Q5H8A4,Q86Y56,P78347 5 |
| Furrowed tongue 0.4451685524273824 0.4430306529864763 0.6577435632110868 1.0 1.0 5 Q15437 1 |
| Cutaneous melanoma 0.616391223176694 0.4427336949421518 0.6579583674718337 1.0 1.0 3 P19447 1 |
| Bilateral tonic clonic seizure 0.2621922603251675 0.4396108570298737 0.6602189759320236 1.0 1.0 70 O43776,P27635,O14617,Q9BZI7,Q05639,Q14683,Q96T60,P51659,Q9ULM3,P40763,O60231,Q01105,Q00610,O95239,Q93008,Q7Z392,Q14204 17 |
| Atresia of the external auditory canal 0.3550785381900099 0.4391113957894267 0.6605808222326077 1.0 1.0 12 A6NHR9,Q13428,Q9UQE7,Q14683 4 |
| Muscle hypertrophy of the lower extremities 0.4257756200366827 0.4356401024212811 0.6630978700694086 1.0 1.0 6 O60231 1 |
| Full cheeks 0.3130861153594472 0.4355597519911832 0.663156177669336 1.0 1.0 29 Q12756,Q8N201,P54886,P21333,O00170,P36507,P35573,Q9BZK7,Q9P2J5 9 |
| Cogwheel rigidity 0.4815159046668632 0.4353386942802923 0.6633166023311259 1.0 1.0 4 P12235,P55265 2 |
| Hypoplastic nipples 0.3823811475720008 0.4346985267727156 0.6637812678862198 1.0 1.0 8 Q93008,Q9UQE7,Q14683 3 |
| Abnormality of blood circulation 0.2631139285366222 0.4337322363637196 0.6644828946144583 1.0 1.0 57 P52701,P49327,P53621,P49257,P40763,P21359,P22681,P05165,Q86W42,P60866 10 |
| Abnormal megakaryocyte morphology 0.4423054644045926 0.432612738418227 0.6652961335856435 1.0 1.0 5 P22314 1 |
| Coloboma 0.3108964243454288 0.4311690407270309 0.6663454630658325 1.0 1.0 35 Q13428,Q8N201,Q96ST3,Q5H8A4,P21333,A6NHR9,P53701,Q92620,Q7Z392,Q69YQ0,P38606 11 |
| Abnormal atrioventricular valve physiology 0.3027903326289158 0.4302309098559115 0.6670276794210013 1.0 1.0 42 P49327,Q9Y4P3,Q8N5F7,P10644,P54886,P21333,P21359,P53701,O00170,P22681,O95169,O75306 12 |
| Posterior pharyngeal cleft 0.7224025974025998 0.4258663482232311 0.6702052373061194 1.0 1.0 2 P29372 1 |
| Cerebellar malformation 0.2895279382222584 0.4226526618592751 0.6725486983352562 1.0 1.0 48 Q9NQT5,Q9Y4P3,Q9Y617,P21333,Q9UID3,Q14839,Q93008,P51532,P38606,Q9NVI1,Q92785 11 |
| Posteriorly rotated ears 0.2923773106066084 0.4221873734165014 0.672888257032279 1.0 1.0 91 Q07864,Q9NXE4,P21333,Q93008,Q7Z6Z7,P78347,O00203,P98175,P22681,P36507,Q69YQ0,Q08J23,Q92785,Q9Y4P3,P21359,P28482,Q15392,Q06124,Q14683,Q9Y4A5,Q5H8A4,O60231,Q15042,P46821 24 |
| Shoulder girdle muscle weakness 0.379265115508422 0.4216690850183655 0.6732665726305522 1.0 1.0 8 P43243,P12235,O14979 3 |
| Abnormality of the ankles 0.3103733273361954 0.4216047578755779 0.6733135328791797 1.0 1.0 33 P27635,Q5JTV8,Q9Y4P3,Q9Y617,P21333,P22314 6 |
| Cerebral hypomyelination 0.3164604914510993 0.4214889195290669 0.6733981006667833 1.0 1.0 15 P49770 1 |
| Muscular hypotonia of the trunk 0.2506303344289453 0.4212993627211853 0.6735364955252068 1.0 1.0 64 O14617,P14868,P43034,Q9BW92,O60701,P08243,Q9NSD9,P05165,Q08J23,O75306,Q12756,Q9NQT5,P26196,Q9Y617,P55265,P53597,Q9H270,Q6ZXV5,Q14683,Q96N66 20 |
| Abnormality of the larynx 0.3053435392451787 0.4191724718177037 0.6750900890065599 1.0 1.0 39 P27635,Q7Z2Z2,P52701,P21333,Q92804,Q69YQ0 6 |
| Macroorchidism 0.4765843575909273 0.4187858130118599 0.6753726740508001 1.0 1.0 4 P21359 1 |
| Telangiectasia of the skin 0.3282118637191133 0.4183049393688584 0.6757241787438222 1.0 1.0 14 P54132,Q07864,P12004,P18074,P19447,P21359 6 |
| Premature birth 0.3087858636048141 0.4179559528590164 0.6759793220509125 1.0 1.0 35 Q9NXE4,P27635,O75369,Q14683,P46109,P51570,P28482,A5YKK6,P36507,Q9UQE7,Q9NP81 11 |
| Decreased circulating igg subclass level 0.7175324675324676 0.412660530427507 0.6798553463684778 1.0 1.0 2 P00813 1 |
| Progressive distal muscle weakness 0.6053054101432966 0.4107182494312877 0.6812791437200378 1.0 1.0 3 Q7Z406 1 |
| Abnormality of the musculature of the thigh 0.3804430763106292 0.4096984626252235 0.6820271579743848 1.0 1.0 7 Q14204 1 |
| Muscle spasm 0.2877354999026342 0.4094559055516463 0.6822051197792924 1.0 1.0 48 P53985,O75165,Q7Z392,P06737,P00558,Q9Y617,Q9Y6X9,P54886,Q5H8A4,P12235,Q14203,Q92804,Q04637 13 |
| Broad based gait 0.2995692422353783 0.4075185450369595 0.6836271763280943 1.0 1.0 19 P98175,P46821,Q13620,P27708 4 |
| Abnormal brainstem morphology 0.2555702464207919 0.4073972336689996 0.6837162584097347 1.0 1.0 68 Q9NXE4,Q14683,Q9Y4A5,P08243,P43034,Q9UID3,O15121,P26358,Q93008,Q6ZXV5,Q9UN37,Q14204 12 |
| Missing ribs 0.3756694144443471 0.4068073541332069 0.6841494849746823 1.0 1.0 8 Q06124,Q96T58,O75369,P21281 4 |
| Long palpebral fissure 0.3017817226672742 0.4041836987173366 0.6860776400746842 1.0 1.0 21 Q93008,P63241,P36507,Q9BZI7 4 |
| Hypoplasia of the pons 0.3128560239932405 0.4030104859220118 0.6869405105008095 1.0 1.0 15 Q96N67,P08243,Q9UID3,Q92974,Q9BVA1,Q7Z3K3 6 |
| Fatigue 0.2518636569390037 0.4026741131850597 0.6871879800561018 1.0 1.0 66 P52701,P49327,P60866,P19447,P10644,Q9Y6X9,P40763,Q9NWH9,P21359,O00170,P22681,P12235,Q15149,Q14203,Q92804,P22314 16 |
| Dilatation of the cerebral artery 0.3697280035811034 0.3997058329453673 0.689373195408884 1.0 1.0 9 P21359,P10644 2 |
| Abnormal talus morphology 0.3092219259501785 0.3995502214383273 0.6894878265985238 1.0 1.0 16 Q9NXE4,Q9Y617,P21333,P98175,Q92979 5 |
| Aplasia hypoplasia of toe 0.3059774740066376 0.3979995518508945 0.6906305160907131 1.0 1.0 27 Q03164,Q12830,P10644,Q5H8A4,P21333,Q8IWS0,P55011,Q9BZK7,Q7Z6Z7,Q69YQ0,P00813 11 |
| Increased circulating iga level 0.7118506493506642 0.3974898423557481 0.6910062755347961 1.0 1.0 2 P49327 1 |
| Schwannoma 0.4700617792526591 0.3972655375344104 0.6911716578850939 1.0 1.0 4 P21359,P10644 2 |
| Dental crowding 0.3016905846595247 0.397032003613401 0.6913438606091491 1.0 1.0 22 Q14683,P27635,Q69YQ0,Q9BZI7 4 |
| Ascites 0.297579462366508 0.3967974117485903 0.6915168595135619 1.0 1.0 19 P10644,P51659,Q01844,P22681,P63241 5 |
| Smooth muscle antibody positivity 0.7110389610389758 0.395343728128657 0.6925892319104419 1.0 1.0 2 P49327 1 |
| Anti thyroid peroxidase antibody positivity 0.7110389610389635 0.3953437281286245 0.6925892319104658 1.0 1.0 2 P00813 1 |
| Abnormality of the hallux 0.3004272998147216 0.395304942123671 0.6926178525313174 1.0 1.0 40 Q93009,Q12830,Q9Y4P3,Q14683,P10644,Q5H8A4,P21333,P55011,Q93008,Q7Z6Z7,Q9Y3E5,P78347 12 |
| Abnormal testis morphology 0.3873583256709111 0.3937355901895434 0.6937762623212138 1.0 1.0 171 Q07864,P54132,P27635,Q6P2Q9,Q8N5F7,P19447,P21333,Q06136,P53701,Q8IY37,P63241,Q7Z6Z7,P38606,Q9NVI1,P78347,Q93009,Q12830,Q13428,O75369,P53992,Q15436,P54886,Q8IWS0,P98175,Q92979,P22681,P36507,Q9BZK7,Q14839,P51532,Q69YQ0,Q08J23,Q92785,Q9UPY3,Q9BZI7,Q9Y4P3,P26196,P28340,P29372,P10644,P26639,P21359,P28482,Q92620,Q01844,P22314,P33992,P49327,Q06124,P18074,P42345,Q14683,Q96ST3,O43395,Q9Y4A5,Q8TCJ2,Q5H8A4,Q96T58,A6NHR9,P55011,Q15042,Q13620,Q96GM5,Q7LBC6,Q9UQE7 65 |
| Thoracic hypoplasia 0.303828329976868 0.3929604110923429 0.6943487214815376 1.0 1.0 25 O75369,Q9BZI7,P42345,P51659,Q15436,P21333,P61011,Q6NW34 8 |
| Abnormal upper limb bone morphology 0.257120820594046 0.3925553530859143 0.6946479206740284 1.0 1.0 70 P21333,Q93008,Q7Z6Z7,P78347,Q9NVI1,Q6NW34,Q12830,O75369,P98175,P22681,P36507,Q08J23,Q12756,Q9Y4P3,P10644,P53597,Q14807,Q06124,Q14683,P55011,Q9UQE7 21 |
| Hyperpituitarism 0.3042944014873004 0.3912799973624558 0.6955902824722529 1.0 1.0 17 P10644,P51659,P33991,Q8IY37 4 |
| Absent forearm bone 0.5983454373702619 0.3911343845557585 0.695697905883796 1.0 1.0 3 O75369 1 |
| Abnormal intestine morphology 0.3624138613654348 0.3894751294691974 0.6969247049683622 1.0 1.0 148 Q07864,P54132,Q7Z2Z2,O15143,P21333,P51610,P53701,P61313,Q93008,P08708,P14174,Q9NVI1,P78347,Q13428,P42766,P40763,P54886,P18077,P98175,Q9Y4L1,P22681,Q9NSD9,P50851,P60866,Q9UPY3,Q9BZI7,Q9Y4P3,Q6PGP7,P10644,Q86Y56,Q15392,Q07020,Q01844,Q15437,P52701,P49327,Q14683,Q96ST3,P48506,Q9NRZ9,P62899,P55011,Q9UID3,Q7LBC6 44 |
| Nonspherocytic hemolytic anemia 0.5968331303288693 0.3869336669035507 0.6988053161487522 1.0 1.0 3 P04075,P06744 2 |
| Primary amenorrhea 0.3016663757627368 0.3856552957969319 0.6997519750597196 1.0 1.0 24 Q14683,Q13144,P49770,Q8IY37 4 |
| Abnormality of tibia morphology 0.3528216256821931 0.384710402547087 0.7004519871873023 1.0 1.0 11 P21359,O75369,P21333 3 |
| Cellulitis 0.4661766916657622 0.3846567152096816 0.7004917684135314 1.0 1.0 4 P40763 1 |
| Abnormality of the menstrual cycle 0.2906422627063928 0.3838542371628548 0.7010864862018298 1.0 1.0 45 Q12830,P35579,Q06124,Q14683,P10644,P49257,P51659,P40763,P49770,A6NHR9,Q13144,O00170,Q8IY37,P29401,Q9UQE7 15 |
| Broad nasal tip 0.2941666587158419 0.3832812448949181 0.7015112438439064 1.0 1.0 43 Q12830,Q7LBC6,O75369,Q9BZI7,O60488,P10644,P51610,Q15042,P51532,P35573,Q96GM5,Q93008,Q7Z6Z7,P38606,Q92785 15 |
| Malnutrition 0.4648583219061934 0.3804145435338067 0.7036377205146884 1.0 1.0 4 Q7Z2Z2 1 |
| Abnormal periventricular white matter morphology 0.301145838179302 0.3799234724706337 0.7040022229564178 1.0 1.0 37 Q93009,P27635,P19447,P26639,Q9Y6X9,P54886,P11498,O15121,P22314 9 |
| Abnormal caudate nucleus morphology 0.372885305125222 0.3794494859277919 0.7043541087450247 1.0 1.0 7 O95169,Q9BVA1,O75306 3 |
| Cerebellar vermis atrophy 0.3600145850138682 0.3774916198348751 0.7058082909480898 1.0 1.0 10 Q12756,Q15334,Q14671,Q13620 4 |
| Arthralgia 0.3031910662319202 0.377117846547937 0.7060860290639637 1.0 1.0 30 Q9Y4P3,P53621,P19447,O00170,P22681,P49327,P14174,P22314 8 |
| Basal ganglia calcification 0.4097588407206443 0.3770913597582581 0.7061057119752616 1.0 1.0 6 Q969U7 1 |
| Increased head circumference 0.2915382364062863 0.3769895920293334 0.7061813396236647 1.0 1.0 94 Q07864,P51659,P49770,P51610,Q13144,Q9HCK8,Q93008,Q7Z6Z7,Q99575,Q15436,P36507,Q14839,Q9UPY3,Q9BZI7,O14646,P21359,P55263,Q15392,Q15437,Q14683,Q9H9P8,Q9NRZ9,P55011 23 |
| Abnormality of the nasal alae 0.3395775369401989 0.3767066895343027 0.7063915909656493 1.0 1.0 130 P55795,Q6P2Q9,P19447,P51610,P43034,Q8IY37,Q93008,Q7Z6Z7,P63241,P38606,Q12830,O75369,O60488,Q15436,P98175,P36507,Q9BZK7,P51532,Q08J23,Q92785,Q9BZI7,Q6PGP7,P29372,P10644,P46109,P21359,P28482,Q92620,Q15392,Q14683,Q96ST3,Q96T60,O43395,Q9Y4A5,Q15042,Q9UID3,P35573,Q15149,Q96GM5,Q7LBC6,Q9UQE7,P42704 42 |
| Acne 0.3637329278071963 0.375155389073124 0.7075449055852283 1.0 1.0 9 Q9Y4L1,O00170,P49327 3 |
| Phocomelia 0.5923820269742204 0.3746855817314058 0.7078943165062432 1.0 1.0 3 Q6KC79 1 |
| Recurrent ear infections 0.5923256872241374 0.3745316702095841 0.7080087988649693 1.0 1.0 3 P61011 1 |
| Elbow flexion contracture 0.2933412059147772 0.3743847296155777 0.7081181022710674 1.0 1.0 19 P22314,O00469,P54886,P21333 4 |
| Erythroid hyperplasia 0.7029220779220762 0.374179550880494 0.7082707368304066 1.0 1.0 2 O75533 1 |
| Inability to walk 0.2533162106298407 0.3725478802717975 0.7094849699777708 1.0 1.0 69 P26640,P27635,P07814,Q8N201,Q96C86,Q14683,Q9Y6X9,P54886,Q9UID3,P12235,Q15149,P42704,Q7Z392,P38606,Q96N66 15 |
| Retinal arteriolar tortuosity 0.36709320625378 0.3721472685319831 0.7097832044545354 1.0 1.0 8 P78347,Q9Y4P3 2 |
| Hypogonadism 0.2514482991368775 0.3699878697265645 0.7113915286451522 1.0 1.0 68 Q07864,Q6P2Q9,P19447,O00170,Q8IY37,P78347,Q9NVI1,Q93009,Q8IWS0,P22681,Q9UN37,Q9Y4P3,P28340,Q9Y617,P10644,P51570,Q92620,Q9NW13,Q06124,P18074,O43395,A6NHR9,Q15042,Q13620 24 |
| Abnormality of the nasal tip 0.2669955537107795 0.3699792509360046 0.7113979505160892 1.0 1.0 78 Q9NXE4,P21333,P51610,Q93008,Q7Z6Z7,P63241,P38606,Q03164,Q12830,O75369,Q8N201,O60488,P53992,P51532,Q92785,Q9BZI7,P10644,Q9Y4A5,Q15042,Q13620,P35573,Q96GM5,Q7LBC6,Q9UQE7 24 |
| Tetraplegia 0.3581449124741523 0.3698198982131145 0.7115166881054735 1.0 1.0 10 P43034,P54886 2 |
| Soft doughy skin 0.7008928571428552 0.3689742314160102 0.7121469320456375 1.0 1.0 2 P18583 1 |
| Abnormality of the small intestine 0.2974347790629921 0.3689731914810936 0.7121477071915281 1.0 1.0 39 Q7LBC6,Q7Z2Z2,Q9BZI7,Q6PGP7,P40763,P21333,P51610,P98175,P61011,P50851,Q93008,Q9Y3E5,Q9NVI1 13 |
| Impaired tactile sensation 0.4073164986684882 0.3684392945574427 0.7125457021283814 1.0 1.0 6 O43776 1 |
| Aplasia hypoplasia of the uterus 0.3056654615700036 0.3671581314437281 0.7135010678946423 1.0 1.0 15 Q8IY37 1 |
| Serositis 0.3055553462446975 0.3666199537620543 0.7139025221614606 1.0 1.0 15 P14174 1 |
| Abnormality of blood volume homeostasis 0.6996753246753334 0.3658677665891658 0.7144637497671487 1.0 1.0 2 P40763 1 |
| Ischemic stroke 0.6996753246753228 0.365867766589139 0.7144637497671686 1.0 1.0 2 P18583 1 |
| Recurrent bronchopulmonary infections 0.4602203205747173 0.365641046367548 0.7146329422901689 1.0 1.0 4 P19447,P26639 2 |
| Adrenal insufficiency 0.2931676190139757 0.3655862797740654 0.7146738145819957 1.0 1.0 20 Q7Z392,P51659,P33991,Q8IY37 4 |
| Aplasia hypoplasia of the extremities 0.3544903273414794 0.362848646507182 0.7167179501033982 1.0 1.0 144 Q07864,P27635,Q9NR45,P21333,P51610,P61313,Q93008,Q13618,Q7Z6Z7,P08708,Q9NVI1,Q6NW34,Q03164,Q12830,Q93009,O75369,P42766,Q99575,O60488,P54886,P18077,Q8IWS0,P98175,Q9BZK7,Q14839,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q14204,Q9BZI7,P26196,P10644,Q9Y617,P46109,P53597,P28482,Q15392,Q07020,P00813,Q14807,P18583,Q14683,P42345,Q96ST3,Q96T60,Q9Y4A5,Q5H8A4,Q9NWH9,Q96T58,P62899,P55011,Q13620,Q96GM5,Q9UQE7 56 |
| Pierre robin sequence 0.459193194382488 0.3624014967495096 0.7170520211670224 1.0 1.0 4 P21333 1 |
| Hyperlordosis 0.2920726373951651 0.3595364284406686 0.7191938311250059 1.0 1.0 42 Q12756,P55795,O75369,Q15738,Q99575,Q9Y281,Q9Y4P3,P18583,P46109,P21359,Q8TD16,P28482,A6NHR9,Q15042,Q15149,Q7Z392,P78347 17 |
| Metatarsus adductus 0.3635454346926277 0.3581492381611783 0.7202316329097902 1.0 1.0 8 Q15392,Q08J23 2 |
| Abnormal renal pelvis morphology 0.2930607007743124 0.356891983152191 0.7211726715065723 1.0 1.0 41 Q07864,Q9Y4A5,P21333,P21359,P36507,Q15149,Q93008 7 |
| Abdominal distention 0.3149270040577231 0.3548003013243583 0.7227392026221899 1.0 1.0 14 O75369,P06737,P21333,Q15149,Q01844 5 |
| Generalized hyperpigmentation 0.3359430769964928 0.3535710293763136 0.7236603888434745 1.0 1.0 12 Q7Z392,P36507 2 |
| Abnormal penis morphology 0.3686373921646108 0.3523702082092312 0.7245606414281065 1.0 1.0 158 Q07864,P27635,Q6P2Q9,P78527,P21333,P51571,P43034,P53701,O00170,P61313,Q86W42,Q8IY37,Q93008,Q7Z6Z7,P08708,P38606,Q9NVI1,P78347,Q93009,Q13428,P42766,P53992,P18077,Q8IWS0,Q9BZK7,Q14839,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q9Y4P3,Q6PGP7,P26196,P29372,P10644,P55265,Q15046,P53597,Q92620,Q07020,Q15437,P22314,O75787,Q06124,P18074,P42345,Q14683,Q96ST3,Q96T60,Q9Y4A5,O43395,Q8TCJ2,Q96T58,P62899,A6NHR9,Q5H8A4,Q15042,Q13620,Q96GM5,Q7LBC6,Q9UQE7 62 |
| Sepsis 0.3142196644948183 0.3515405568301447 0.7251828515883922 1.0 1.0 14 Q9Y4L1,Q7Z2Z2,P50851 3 |
| Nail dystrophy 0.2944634076766431 0.3472632061719213 0.728393590025965 1.0 1.0 24 Q12756,P18074,O60832,P19447,Q03001,P26639,P40763,P21333,P36507,Q15149,Q9NX24,P15924 12 |
| Personality changes 0.334354443972263 0.3468006560731769 0.7287410842111557 1.0 1.0 12 Q13144,P49770 2 |
| Esophageal atresia 0.4173992110015488 0.345895487450691 0.7294212600650725 1.0 1.0 5 Q15149 1 |
| Hypoplastic ilia 0.4003406925140447 0.3441569417868579 0.7307282620199871 1.0 1.0 6 Q99575,P21333 2 |
| Aplasia hypoplasia of the cerebral white matter 0.3598635495478844 0.3438422417821801 0.730964930561466 1.0 1.0 8 O43776 1 |
| Profound global developmental delay 0.3554962167451441 0.3424003569765466 0.7320496198852018 1.0 1.0 9 P55011,Q9Y617 2 |
| Polyuria 0.4524194100346481 0.3413371432184983 0.7328497888666348 1.0 1.0 4 Q9NP81 1 |
| Hyperextensible skin 0.3113040784173466 0.3382408607270923 0.735181686116684 1.0 1.0 14 P36507,P54886 2 |
| Hypopituitarism 0.2961614496230992 0.3382295607288363 0.735190200949585 1.0 1.0 30 Q07864,Q03164,Q7Z2Z2,O75369,Q14683,Q96ST3,P10644,P61011,O00170,Q7Z392,Q9NVI1 11 |
| Neoplasm of the parathyroid gland 0.4149577268686899 0.3378025674473417 0.7355119749669501 1.0 1.0 5 P21359 1 |
| Abnormality of the parathyroid morphology 0.4149577268686899 0.3378025674473417 0.7355119749669501 1.0 1.0 5 P21359 1 |
| Parathyroid adenoma 0.4149577268686899 0.3378025674473417 0.7355119749669501 1.0 1.0 5 P21359 1 |
| Abnormal gallbladder morphology 0.2948613617043952 0.3373387359442706 0.7358615621611724 1.0 1.0 27 P06744,Q9Y4P3,P53992,A5YKK6,Q15437,Q69YQ0,Q9UN37,P78347 8 |
| Slanting of the palpebral fissure 0.3576613621718388 0.3352914162347969 0.7374052682185726 1.0 1.0 150 Q9NXE4,O95319,O95602,Q05639,P51659,P21333,P51610,P35606,P43034,Q12797,Q9HCK8,Q86W42,Q93008,P63241,Q7Z6Z7,P38606,Q9NVI1,Q03164,Q12830,O60934,Q13428,O60488,P49588,P53992,O00203,P22681,P36507,Q14839,P42695,Q69YQ0,Q92785,Q14204,Q9BZI7,Q6PGP7,P26196,O14646,P21359,P28482,Q92974,Q00610,Q15392,O43776,Q06124,P18583,Q14683,P42345,Q96ST3,Q9Y4A5,Q14738,Q5H8A4,P55011,Q13620 52 |
| Abnormality of the female genitalia 0.2976707576102287 0.3346924035458738 0.7378571323884902 1.0 1.0 102 Q07864,P54132,P49770,P53701,Q13144,O00170,Q86W42,Q8IY37,Q9NVI1,P78347,O60934,Q13428,P60866,Q69YQ0,Q08J23,Q9UPY3,Q9Y4P3,P10644,P51570,Q15392,Q01844,Q15437,Q06124,P52701,Q14683,A6NHR9,Q15042,P49327,Q9UQE7 29 |
| Abnormal bleeding 0.2699536200275813 0.3313172244117645 0.7404048821470337 1.0 1.0 83 P49257,P21333,O00170,P38606,P40763,O00203,P22681,P05165,P36507,P60866,P53621,P10644,P21359,P28482,P35579,Q6ZXV5,Q14692,Q06124,P52701,Q9H267,P46821,Q15149,P49327 23 |
| Periorbital fullness 0.2919738492052147 0.3300168560438973 0.7413872257045406 1.0 1.0 17 Q93008,Q9BZI7,P62266,O14646 4 |
| Abnormal peripheral action potential amplitude 0.3600161119514075 0.3299762299115583 0.7414179229001234 1.0 1.0 7 Q9Y6X9,O60231 2 |
| Nasal speech 0.2918767862850779 0.3292766002089747 0.7419466291800321 1.0 1.0 25 Q12830,Q9BZI7,P53992,P55011,P43243,Q15149,Q7Z6Z7 7 |
| Abnormality of the auditory canal 0.2918154050313903 0.3292600597795957 0.741959130165518 1.0 1.0 17 Q13428,Q14683,A6NHR9,P55011,Q9UQE7 5 |
| Intellectual disability mild 0.2955908383539677 0.3292062280168267 0.7419998158010461 1.0 1.0 101 P54132,Q05639,P21333,P14868,P43034,P61011,Q13618,Q7Z6Z7,P29401,Q12830,O15020,P12004,P53992,O00203,P49591,Q08J23,Q14204,Q12756,Q96C86,Q9BZI7,P11586,Q6PGP7,P26196,P55265,P21359,Q00610,Q96F86,Q06124,Q9NZ01,Q14683,Q96ST3,P55011,Q01105,P35573,Q96N66 35 |
| Sleep disturbance 0.3141457202617352 0.3266299710386071 0.7439477721998775 1.0 1.0 115 Q05639,Q96N66,P24928,A5YKK6,O00170,Q9HCK8,P26358,Q14203,Q7Z6Z7,P78347,Q93009,P06737,P49591,Q9UN37,Q08J23,Q14204,Q96C86,Q9Y4P3,P21359,Q8NBU5,Q00610,Q96F86,O75165,Q9NZ01,Q14683,Q96ST3,Q96T60,P55011,Q9UID3,Q01105,P42704,Q04637 32 |
| Horizontal nystagmus 0.2875567549000767 0.3256362021776064 0.744699618459385 1.0 1.0 18 Q69YN2,O15020,P54886 3 |
| Abnormal cerebral artery morphology 0.3380563429139681 0.3236008090672432 0.7462402753544222 1.0 1.0 11 P31153,P10644,P55265,P21359,Q9NSD9,Q14697 6 |
| Myositis 0.3582776459517917 0.3235019843311336 0.7463151049771786 1.0 1.0 7 Q969U7 1 |
| Abnormality of the radial head 0.3939790298316279 0.3225893030716231 0.7470062958956389 1.0 1.0 6 P10644,Q14807,P21333 3 |
| Slurred speech 0.3542760275222112 0.3225741110923154 0.74701780279477 1.0 1.0 8 Q69YN2,O15020 2 |
| Fetal ultrasound soft marker 0.3179815423152584 0.3201034121890649 0.7488899390977042 1.0 1.0 13 P22681 1 |
| Pheochromocytoma 0.3570273925280968 0.3188779480729369 0.7498190669615621 1.0 1.0 7 P21359 1 |
| Hypertension associated with pheochromocytoma 0.3570273925280968 0.3188779480729369 0.7498190669615621 1.0 1.0 7 P21359 1 |
| Elevated calcitonin 0.3570273925280968 0.3188779480729369 0.7498190669615621 1.0 1.0 7 P21359 1 |
| Echolalia 0.3492200526183574 0.3182447634933292 0.7502992800493296 1.0 1.0 9 P53701 1 |
| Abnormal facial expression 0.2887651333306087 0.3182358035723355 0.7503060760317537 1.0 1.0 24 O75165,A6NHR9,P12235,Q14203,P22314,Q04637 6 |
| Reticulated skin pigmentation 0.679383116883115 0.3159992940806018 0.7520030439445937 1.0 1.0 2 O60832 1 |
| Epiphora 0.679383116883115 0.3159992940806018 0.7520030439445937 1.0 1.0 2 O60832 1 |
| Esophageal stricture 0.679383116883115 0.3159992940806018 0.7520030439445937 1.0 1.0 2 O60832 1 |
| Panniculitis 0.3558667960462948 0.3146097575868343 0.7530579696433295 1.0 1.0 7 Q969U7 1 |
| Neonatal respiratory distress 0.281107242400902 0.3131237668574615 0.7541866330422693 1.0 1.0 19 Q9NXE4,Q14807,P51570,Q86Y56,P53597,Q15149 6 |
| Abnormality of the thoracic cavity 0.3472474186552703 0.3108023762981696 0.7559508630708718 1.0 1.0 9 Q9H0U3,Q7Z2Z2 2 |
| Zonular cataract 0.3545764435784483 0.3098920429618448 0.7566430539517364 1.0 1.0 7 Q15436,P51570 2 |
| Enlarged thorax 0.3047765402540349 0.3092863203605427 0.7571037359656829 1.0 1.0 14 P28482,P22681,Q99575 3 |
| Schizophrenia 0.2875597499980116 0.3092431261541853 0.7571365905959535 1.0 1.0 17 Q9NTZ6,O75165,Q04637 3 |
| Abnormal blood monovalent inorganic cation concentration 0.304766278812615 0.3092417209917012 0.7571376594062444 1.0 1.0 14 Q9H3U1,O00170,P0DP25,Q13618,P35658,Q9NP81 6 |
| Abnormal finger phalanx morphology 0.3208383334519657 0.3090794317333094 0.7572611047878506 1.0 1.0 122 P54132,P27635,Q9Y6X9,P21333,P51610,A5YKK6,P61313,Q93008,Q7Z6Z7,P08708,Q9NVI1,Q6NW34,Q03164,Q12830,O75369,P42766,O60488,P53992,P18077,Q8IWS0,P98175,Q92979,P60866,P51532,P15924,Q08J23,Q12756,Q9BZI7,P26196,P10644,P46109,Q69YN2,P28482,Q07020,Q14807,P18074,P42345,Q14683,Q5H8A4,Q96T58,P62899,P55011,Q15042,Q13620,Q9UQE7 45 |
| Retinal coloboma 0.3543508221015309 0.3090701499578595 0.7572681651608488 1.0 1.0 7 Q8N201,Q92620 2 |
| Large for gestational age 0.3542090280601902 0.3085540837707038 0.7576607533518738 1.0 1.0 7 Q9UM00,P50570,P42345,Q9UQ13,Q9H9B1,Q12955 6 |
| Abnormal middle phalanx morphology of the hand 0.3897428267930071 0.3085456345785153 0.75766718144527 1.0 1.0 6 Q03164,Q6NW34 2 |
| Coma 0.289129057895786 0.3050818218809101 0.7603038356868848 1.0 1.0 28 Q96RQ3,P50747 2 |
| Abnormal thrombosis 0.2823260594428228 0.3043809094286052 0.7608377103059816 1.0 1.0 21 P10644,P40763,Q9NWH9,P35579,P49327 5 |
| Abnormal temper tantrums 0.3526275103915652 0.302822283039481 0.7620253008533435 1.0 1.0 7 Q93009,Q9BVA1 2 |
| Deep palmar crease 0.3032313227453697 0.3026034885356805 0.762192055583379 1.0 1.0 14 P98175,O00170,P36507,Q9BZK7,Q69YQ0 5 |
| Tibial bowing 0.5644342358787918 0.3019545122587347 0.7626867392481251 1.0 1.0 3 P21333 1 |
| Radial bowing 0.5644342358787918 0.3019545122587347 0.7626867392481251 1.0 1.0 3 P21333 1 |
| Severe hearing impairment 0.6728896103896083 0.3008276598578167 0.7635459152950188 1.0 1.0 2 Q06124 1 |
| Selective tooth agenesis 0.4387025881295815 0.3003505900111522 0.7639097481734252 1.0 1.0 4 P21333 1 |
| Abnormality of the basal ganglia 0.2401338501766031 0.3002764893546492 0.7639662650293177 1.0 1.0 66 Q96C86,Q9NZ01,Q969U7,Q9NYY8,P19447,Q96N66,Q9NR45,P49591,P24928,P53597,P55011,P42704,O95169,Q96F86,Q08J23,O75306 16 |
| Central sleep apnea 0.4032300195745291 0.3000395239140465 0.7641470079223629 1.0 1.0 5 P42704 1 |
| Submucous cleft soft palate 0.5634493884196192 0.2995296270597795 0.7645359699409953 1.0 1.0 3 P18583 1 |
| Eruption failure 0.3868901391630562 0.2992362029695167 0.7647598280812413 1.0 1.0 6 A6NHR9,P21333 2 |
| Abnormality of vitamin e metabolism 0.5632685489875742 0.2990854285471814 0.7648748640530372 1.0 1.0 3 Q7Z2Z2 1 |
| Reduction of neutrophil motility 0.5632685489875742 0.2990854285471814 0.7648748640530372 1.0 1.0 3 Q7Z2Z2 1 |
| Proximal femoral epiphysiolysis 0.5632685489875742 0.2990854285471814 0.7648748640530372 1.0 1.0 3 Q7Z2Z2 1 |
| Deformed rib cage 0.5632685489875742 0.2990854285471814 0.7648748640530372 1.0 1.0 3 Q7Z2Z2 1 |
| Abnormality of vitamin k metabolism 0.5632685489875742 0.2990854285471814 0.7648748640530372 1.0 1.0 3 Q7Z2Z2 1 |
| Tremor by anatomical site 0.2835736744432441 0.2981192396995695 0.7656121576971606 1.0 1.0 23 Q9HA77,Q9ULM3 2 |
| Porencephalic cyst 0.5624572825807883 0.2970967728123587 0.7663926281232107 1.0 1.0 3 Q12756 1 |
| Hemolytic anemia 0.2873792622505864 0.296326730106644 0.7669805744532994 1.0 1.0 28 O60934,Q969U7,P48506,P40763,P50851,P49327 6 |
| Type ii diabetes mellitus 0.2873065872988585 0.2959658720437978 0.7672561445497732 1.0 1.0 28 P54132,Q6P2Q9,Q9Y6M1,Q9Y4P3,O00170,Q92620,P78347 7 |
| Nephrocalcinosis 0.2872894050558904 0.2940443580107663 0.7687240080349458 1.0 1.0 16 Q9Y4P3,Q9H267,P78347 3 |
| Abnormal ileum morphology 0.3383515696179544 0.2925182299876152 0.7698904235967134 1.0 1.0 10 Q93008,Q9BZI7,Q9NVI1,P51610 4 |
| Irregular menstruation 0.4354488946108942 0.2909714733720432 0.7710731369602788 1.0 1.0 4 P10644 1 |
| Pelvic kidney 0.3489881027533401 0.2898031344886326 0.7719668497536487 1.0 1.0 7 P78347,Q9Y4P3 2 |
| Abnormally ossified vertebrae 0.5592449391074268 0.28928806417935 0.7723609454344169 1.0 1.0 3 O75369 1 |
| Absent or minimally ossified vertebral bodies 0.5592449391074268 0.28928806417935 0.7723609454344169 1.0 1.0 3 O75369 1 |
| Posterior embryotoxon 0.3104855683840567 0.2889595429806735 0.7726123374972815 1.0 1.0 13 Q9Y4P3 1 |
| Diffuse cerebral atrophy 0.2885003948533582 0.2875353049433682 0.773702473259738 1.0 1.0 15 P31930,O75787,Q96T60,Q9H269,Q9HA77 5 |
| Gingival overgrowth 0.2832397807400306 0.2866297078905589 0.7743958648370879 1.0 1.0 25 Q9Y4P3,P10644,P40763,P46821,Q9BZK7,Q93008,P78347 7 |
| Aplasia hypoplasia of the 5th metacarpal 0.6663961038961238 0.2860517484697312 0.7748384871272866 1.0 1.0 2 P21333 1 |
| Abnormality of the 5th metacarpal 0.6663961038961238 0.2860517484697312 0.7748384871272866 1.0 1.0 2 P21333 1 |
| Sclerosis of skull base 0.6663961038961238 0.2860517484697312 0.7748384871272866 1.0 1.0 2 P21333 1 |
| Abnormal foot bone ossification 0.6663961038961238 0.2860517484697312 0.7748384871272866 1.0 1.0 2 P21333 1 |
| Mild short stature 0.6663961038961166 0.2860517484697153 0.7748384871272989 1.0 1.0 2 P10644 1 |
| Severe short limb dwarfism 0.6663961038961017 0.2860517484696817 0.7748384871273246 1.0 1.0 2 O75369 1 |
| Aplasia hypoplasia of the ribs 0.2822246471995456 0.2850153132969532 0.7756324099795924 1.0 1.0 17 Q03164,Q15738,Q06124,O75369,P21281,P21333,Q96T58,P22314 8 |
| Osteomyelitis 0.3191672636871255 0.2849206643972271 0.7757049239705964 1.0 1.0 12 Q7Z2Z2,P40763,P48643,P26358 4 |
| Hamartomatous polyposis 0.5572071932744092 0.2843894128254753 0.7761119715453391 1.0 1.0 3 Q15437 1 |
| Cytochrome c oxidase negative muscle fibers 0.4325922496069704 0.282849263297835 0.7772923889392565 1.0 1.0 4 P12235 1 |
| Exertional dyspnea 0.2846209291567568 0.2822389377798668 0.7777603033983733 1.0 1.0 16 P10644,P15924,P40763,Q15149 4 |
| Prostate neoplasm 0.4316514600447165 0.2801976217057879 0.7793258912245196 1.0 1.0 4 O60934,Q92878 2 |
| Primary peritoneal carcinoma 0.4316514600447165 0.2801976217057879 0.7793258912245196 1.0 1.0 4 O60934,Q92878 2 |
| Fragile skin 0.3422528840014596 0.2787260701477009 0.7804550539739168 1.0 1.0 8 Q15149 1 |
| Tetraparesis 0.2837266646162029 0.2784674168072359 0.7806535738612952 1.0 1.0 28 Q14683,Q9Y617,Q9H9P8,P43034,Q9HA77,Q5JPH6 6 |
| Abnormal astrocyte morphology 0.3174591450863242 0.2782988825814296 0.7807829338214078 1.0 1.0 12 P21359 1 |
| Abnormal mitochondrial shape 0.4305369811429624 0.2770714771256053 0.7817252227019815 1.0 1.0 4 P53597 1 |
| Transient neutropenia 0.4299701392243756 0.2754877563891231 0.7829415310324346 1.0 1.0 4 Q7Z2Z2 1 |
| Abnormal biliary tract morphology 0.2725307746641861 0.2734488484633557 0.7845082073758558 1.0 1.0 19 Q93008,P48506,P51659,P14174 4 |
| Genu valgum 0.2826784351084033 0.2734477171810832 0.7845090768848593 1.0 1.0 28 P21359,P36507,Q9Y4P3,Q6NW34 4 |
| Poor suck 0.2782704991612863 0.2732768427089712 0.7846404149151858 1.0 1.0 23 O95169,Q14683,P22314,O75306 4 |
| Hyperammonemia 0.2834638357893221 0.2714884851128364 0.7860153548147781 1.0 1.0 32 Q96RQ3,P50747 2 |
| Abnormal hand bone ossification 0.4283957280010994 0.271111305139905 0.7863054268474423 1.0 1.0 4 P21333 1 |
| Distal sensory loss of all modalities 0.5507614087425545 0.2691780261892078 0.7877926889763842 1.0 1.0 3 P48643 1 |
| Talipes calcaneovalgus 0.5505491885988787 0.2686846201423893 0.7881723880658063 1.0 1.0 3 Q69YQ0 1 |
| Abnormal subcutaneous fat tissue distribution 0.5500038869147841 0.2674189927220654 0.7891465776820763 1.0 1.0 3 P38606 1 |
| Aplasia hypoplasia of the nipples 0.3145232444263047 0.2670847677597833 0.7894038952938391 1.0 1.0 12 Q93008,Q9UQE7,Q5H8A4,Q14683 4 |
| Pneumonia 0.2682419519227472 0.2655666760316645 0.7905729529090535 1.0 1.0 47 O60934,Q7Z2Z2,P11586,Q14683,P40763,O00203,P43034,P50851,P51532,P00813,Q92785 11 |
| Horizontal eyebrow 0.3913294598202058 0.263706009860301 0.7920064642195688 1.0 1.0 5 Q8N201,Q96T58 2 |
| Mandibular prognathia 0.2807182925807626 0.2599843571809042 0.7948758399713614 1.0 1.0 30 Q9NXE4,P27635,Q9BZI7,Q06124,P10644,P55011,O00170 7 |
| Progressive inability to walk 0.2929716240655286 0.2599755769987641 0.794882612747096 1.0 1.0 14 P54886,Q14683 2 |
| Abnormality of circulating fibrinogen 0.3367288732025315 0.259506879341617 0.7952441748403105 1.0 1.0 8 P10644,P40763,Q9BZK7 3 |
| Abnormality of dental morphology 0.2630754156158575 0.2592740481405723 0.7954238015155894 1.0 1.0 49 Q9Y4P3,Q15436,P55011,Q8IY37,Q7Z6Z7,Q92785 6 |
| Short ribs 0.3363724770085244 0.2582877363526136 0.7961848502182285 1.0 1.0 8 P21333 1 |
| Abnormal endocrine physiology 0.4236393176279501 0.2580915764522559 0.7963362324298193 1.0 1.0 4 Q9NW13,Q13423,P16435 3 |
| Achilles tendon contracture 0.3286879668796469 0.2575966106962576 0.7967182457317867 1.0 1.0 10 Q15149,Q9Y3E5,Q08J23 3 |
| Shawl scrotum 0.3892278429831785 0.2575079362926222 0.7967866895567717 1.0 1.0 5 Q69YQ0 1 |
| Abnormality of corneal thickness 0.3024390104782959 0.2571713254811232 0.7970465186811688 1.0 1.0 13 O43395,Q6P2Q9,Q92620 3 |
| Alopecia 0.2799982326947426 0.2552021722292653 0.7985669534106559 1.0 1.0 34 P54132,Q15738,P18074,O60832,P19447,P26639,P06132,Q6DKJ4,P50747,Q06136,Q15149,Q9HCC0,Q9NX24,Q9NW13,P00813,P15924 16 |
| Abnormality of pelvic girdle bone morphology 0.3028544479363689 0.2540454487258115 0.7994604465661925 1.0 1.0 114 O95602,Q9NR45,P21333,P43034,P61011,Q93008,Q7Z6Z7,P38606,Q9NVI1,Q6NW34,P78347,Q12830,Q93009,O75369,Q99575,P49588,Q15436,P54886,O00203,Q8IWS0,Q8TD16,Q14839,Q12756,Q9NQT5,Q9Y4P3,P26196,Q8NBU5,P00813,Q14807,Q9H267,Q14683,Q14738,Q5H8A4,Q96T58,P55011,Q7LBC6,Q7Z392,Q9UQE7,Q9Y3E5 39 |
| Abnormality of bone mineral density 0.2989100941504343 0.253908292642639 0.7995664080949259 1.0 1.0 111 Q07864,P27635,Q7Z2Z2,P19447,P51659,P21333,O00170,Q8IY37,Q93008,Q9NVI1,P78347,Q13428,P06737,Q15436,P40763,P54886,P22681,P05165,Q9NSD9,Q9Y4P3,P10644,Q9Y617,P26639,P21359,Q15392,Q14692,Q5H8A4,P12235,Q15149,O00469 30 |
| Ulnar deviation of the hand 0.4212655506871735 0.2517088247324059 0.8012661354300976 1.0 1.0 4 Q9NW13,P21333 2 |
| Hemoptysis 0.5429350769141399 0.2512994585136029 0.8015825937778023 1.0 1.0 3 P49327 1 |
| Microcornea 0.2705269223965352 0.2507545611797846 0.8020038742238462 1.0 1.0 21 Q14683,P18074,P19447,P26639,Q15042,Q9BZK7,Q9UQE7 7 |
| Hypoventilation 0.3185374968316015 0.2498199881517758 0.8027265614505819 1.0 1.0 11 Q14203,O75306 2 |
| Recurrent bacterial infections 0.2795594741846709 0.2497188462966187 0.8028047826187819 1.0 1.0 15 Q86Y56,Q7Z2Z2,P40763,O00203 4 |
| Abnormal metabolism 0.2770228599489534 0.2491535448185797 0.8032420122833828 1.0 1.0 38 Q7Z2Z2,O75787,P11586,P19447,Q9H0U3,P27708,Q8TCJ2,P51610,P51571,P53597,P61011,Q9NSD9,P49327,P38606 14 |
| Aplasia hypoplasia involving the metacarpal bones 0.2668154189818669 0.2486077765453954 0.8036641925190755 1.0 1.0 19 Q14683,Q9NVI1,P21333,Q6NW34 4 |
| Abnormality of the wrist 0.2714323969772829 0.2485430614365809 0.8037142568337856 1.0 1.0 22 P54886,Q9NR45,O60231 3 |
| Limb girdle muscular dystrophy 0.333435984392964 0.2483405868243201 0.8038708986044725 1.0 1.0 8 Q7Z392 1 |
| Abnormal response to endocrine stimulation test 0.541209906617949 0.247447075621378 0.8045622455662096 1.0 1.0 3 Q9NW13,P16435 2 |
| Hydrops fetalis 0.2763006568688298 0.2455202493179458 0.8060536312116076 1.0 1.0 38 P49327,P18077,P08708,P62899,P61313,P60866,Q9HA77 7 |
| Biparietal narrowing 0.3320146793956057 0.2435892884103269 0.8075489250611589 1.0 1.0 8 Q13620,P36507 2 |
| Abnormal odontoid tissue morphology 0.2776283314951384 0.2433350178302534 0.8077458791619563 1.0 1.0 33 Q13428,O75369,Q9Y4P3,P19447,P26639,P21359,P53701,Q15149,P78347 9 |
| Retinal telangiectasia 0.5389521617191037 0.2424543468905522 0.8084281275194043 1.0 1.0 3 O75306 1 |
| Abnormality of the philtrum 0.3590478670077391 0.2419386520390672 0.8088276996424562 1.0 1.0 164 Q9NXE4,P55795,P27635,O14617,Q8N5F7,P51659,P78527,P21333,P51610,A5YKK6,Q86W42,Q8IY37,Q93008,Q7Z6Z7,P38606,P78347,Q03164,Q12830,O60934,O60701,Q8N201,O60488,P53992,Q15436,O00203,P22681,P36507,Q9BZK7,P51532,Q69YQ0,Q08J23,Q92785,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,P29372,Q9Y617,Q15046,P46109,P21359,P28482,Q92974,Q00610,P18583,Q14683,P42345,Q96ST3,Q9Y4A5,Q14738,Q5H8A4,Q96T58,Q15042,P46821,P55011,Q9UID3,Q13620,Q96GM5,Q9UQE7 59 |
| Iris coloboma 0.2728195401602699 0.2392633789177574 0.8109013601747641 1.0 1.0 25 Q13428,Q96ST3,P21333,A6NHR9,P53701,Q7Z392,P38606 7 |
| Aplasia hypoplasia of the radius 0.2976498990860793 0.239097051776656 0.8110303278298436 1.0 1.0 13 P98175,P10644,O75369,Q9NVI1 4 |
| Vascular skin abnormality 0.2679134878246909 0.2386984019405043 0.8113394560080549 1.0 1.0 90 Q07864,Q4G0J3,P54132,P19447,P49257,P21333,Q06136,P53701,O00170,P38606,P12004,P53992,P40763,P54886,P22681,Q9BZK7,P15924,Q08J23,O75306,P28340,P10644,P55265,P21359,P28482,P35579,Q15437,Q06124,Q969U7,P18074,Q14683,Q96T58,Q6KC79,Q15149,P49327,Q9UQE7 35 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.371057262198108 0.2370462723558575 0.8126208929110341 1.0 1.0 177 Q07864,P26640,P54132,P27635,P55795,O95602,P19447,P51659,P21333,P51571,P53701,P61313,P63241,Q7Z6Z7,P08708,Q9NVI1,P78347,Q03164,Q12830,O60934,Q13428,O75369,Q8N201,P42766,P53992,P08243,P18077,P98175,Q8TD16,Q92979,P22681,Q9Y4L1,Q14839,P60866,Q69YQ0,Q08J23,Q9BZI7,Q9Y4P3,P26196,P28340,Q9Y617,P10644,P26639,P21359,P28482,Q15392,Q07020,P22314,O75787,P33992,Q9H267,Q06124,P18074,Q14683,Q96ST3,Q9Y4A5,Q9NRZ9,Q5H8A4,Q96T58,P62899,A6NHR9,P55011,Q15042,Q9UQE7 64 |
| Proximal amyotrophy 0.3063478558438536 0.2370035965910521 0.8126540000662157 1.0 1.0 12 O14979,Q14204 2 |
| Tibial torsion 0.6424512987012962 0.2351063226455335 0.8141262114662391 1.0 1.0 2 P26196 1 |
| Abnormality of the neck 0.3293548144189095 0.2338316718106802 0.8151156605360819 1.0 1.0 138 Q07864,Q9NXE4,P27635,Q9NR45,P21333,P43034,P61313,Q8IY37,Q7Z6Z7,P08708,P38606,Q9NVI1,P78347,Q03164,Q12830,O60934,Q13428,O75369,Q8N201,Q99575,P42766,P53992,P18077,P22681,P36507,Q9BZK7,P60866,Q9Y4P3,Q9Y617,P46109,P21359,P28482,Q9H269,Q07020,Q06124,P18074,Q14683,Q14738,Q5H8A4,Q96T58,P62899,Q15042,Q9UID3,Q13620,Q96GM5,Q9UQE7 46 |
| Slowly progressive 0.2675758649316808 0.2334422367566528 0.8154180188057576 1.0 1.0 44 P23381,O15020,Q5JTV8,Q5T440,Q9Y6X9,P54886,Q69YN2,P12235,P33993,P13639,O14979,Q14203,P49736,Q14204 14 |
| Megalocornea 0.3214118297205242 0.2326288915264779 0.8160495905161467 1.0 1.0 10 P78347,Q9Y4P3 2 |
| Anteriorly placed anus 0.328177282259233 0.230970541480727 0.8173376877853127 1.0 1.0 8 P26196,P53701,Q14839 3 |
| Cutis laxa 0.2697013412986943 0.2305384103976557 0.8176734199795372 1.0 1.0 24 Q9Y4P3,P54886,P21333,P36507,P38606,Q6NW34 6 |
| Encephalocele 0.3206788422804429 0.2301790798773104 0.8179526172797029 1.0 1.0 10 Q13428,Q6ZXV5,P21333 3 |
| Hyperreflexia in upper limbs 0.3642369860724553 0.2297936390891226 0.8182521277458927 1.0 1.0 6 P07384,P54886 2 |
| Organic aciduria 0.274416704275456 0.2296753841803375 0.8183440241786759 1.0 1.0 31 Q96RQ3,P50747 2 |
| Abnormal circulating carboxylic acid concentration 0.2308770718676981 0.2289863930674162 0.818879491933391 1.0 1.0 66 Q96RQ3,Q7Z2Z2,Q9H267,Q6PGP7,P00558,Q9Y617,Q9H9P8,Q15046,P51610,Q7L0Y3,P43034,P53597,P11498,Q9NSD9,P05165,P55263 16 |
| Protuberant abdomen 0.5327167716283181 0.2289562758672207 0.8189029002449688 1.0 1.0 3 O75369 1 |
| Hepatoblastoma 0.3202890703498957 0.228881322962466 0.8189611573883726 1.0 1.0 10 P51532,Q92785,Q6PGP7,Q96GM5 4 |
| Pyoderma gangrenosum 0.639204545454543 0.2286389818649754 0.8191495238385906 1.0 1.0 2 P61011 1 |
| Abnormal immune system morphology 0.3122680209594969 0.2243163652675424 0.8225111430067356 1.0 1.0 125 O14617,Q7Z2Z2,O15143,P19447,P61313,P08708,Q9NVI1,O60934,Q9H0U3,P40763,P18077,O00203,Q9Y4L1,P22681,P05165,P50851,P33991,P60866,P15924,P11586,Q6PGP7,P10644,P21359,P35579,Q07020,P00813,Q9NRZ9,P62899,P49327,P18206,P35658 31 |
| Abnormal external genitalia 0.4085159999532125 0.224072441848577 0.8227009355122248 1.0 1.0 226 P27635,P51571,Q06136,P61313,Q8IY37,P63241,Q12830,O75369,P53992,Q15436,Q8IWS0,Q92979,P22681,Q9BZK7,Q92785,Q9UPY3,Q9Y4P3,P26196,P28340,P55265,P21359,Q15392,Q15437,O75787,P18074,P42345,Q9Y4A5,Q96T58,P62899,Q7LBC6,Q07864,Q8N5F7,P78527,P43034,P53701,Q93008,Q7Z6Z7,Q9NVI1,P54886,P18077,P36507,Q69YQ0,Q9Y617,Q14683,A6NHR9,P55011,Q15149,P49327,Q6P2Q9,P19447,P21333,Q86W42,P08708,Q14839,P60866,P51532,Q9BZI7,Q6PGP7,P29372,P10644,Q15046,Q07020,Q01844,P22314,P33992,Q96ST3,Q96T60,P54132,O00170,P38606,P78347,Q93009,Q13428,P42766,P98175,Q9NSD9,Q08J23,P26639,P53597,P28482,Q92620,Q06124,O43395,Q8TCJ2,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7,Q9Y3E5 90 |
| Anophthalmia 0.3620972798794951 0.2236674159073362 0.8230161019539906 1.0 1.0 6 P53701 1 |
| Progressive night blindness 0.2834420880913496 0.2232300403966782 0.8233564729171572 1.0 1.0 14 Q10713,P50213,Q6P2Q9,P04181,O43395,Q8TC12,O43172,Q15555,O94906,Q92620,Q8WWY3,P36405,O75643 13 |
| Aggressive behavior 0.229635018591984 0.2201106604790295 0.8257849725398396 1.0 1.0 66 P55795,Q05639,P17480,Q8N5F7,Q93008,Q03164,Q12830,Q93009,P49591,P51532,Q92785,P53597,P28482,Q9H269,Q96ST3,Q14738,Q13620,Q96GM5,Q7LBC6 19 |
| Lactose intolerance 0.6343344155844131 0.2191393848687015 0.826541471610236 1.0 1.0 2 P42345 1 |
| Abnormal scapula morphology 0.2630999043673613 0.2177441232410485 0.8276284830307614 1.0 1.0 45 O75369,P42766,Q06124,Q07020,P21333,P18077,A6NHR9,P62899,P61313,P60866,P08708 11 |
| Delayed myelination 0.2308202546923116 0.2176162959081803 0.8277280864706642 1.0 1.0 67 O60701,O43776,O14617,Q96T60,Q9Y617,Q9Y6X9,P08243,Q9Y4A5,P24928,P35606,Q8IY37,Q13618,Q9H270,Q8IYI6 14 |
| Developmental stagnation 0.3237325395326624 0.2167431634904234 0.8284085078795742 1.0 1.0 8 Q9H270,P24928,Q14683 3 |
| Equinovarus deformity 0.5264750450843598 0.2158772879253199 0.8290834012911898 1.0 1.0 3 P40939 1 |
| Bruxism 0.3742381145875745 0.215296920164305 0.8295358306815568 1.0 1.0 5 Q7L2E3,Q12955,P51608,Q01082 4 |
| Hypodontia 0.2706007216886567 0.2134284292039003 0.8309928080038949 1.0 1.0 36 O75369,O95319,Q99575,Q05639,P49588,Q9Y4P3,P10644,Q5H8A4,Q00610,Q9NW13,P38606,P78347 12 |
| Abnormality of the palpebral fissures 0.3652314538311466 0.2134090994740132 0.8310078836286097 1.0 1.0 175 Q9NXE4,P55795,P27635,O95319,O95602,Q05639,P51659,P21333,P51610,P35606,P43034,Q12797,Q9HCK8,Q86W42,Q93008,P63241,Q7Z6Z7,P38606,Q9NVI1,P78347,Q03164,Q12830,O60934,O60701,Q8N201,Q13428,O60488,P49588,P53992,O00203,Q8IWS0,P98175,P22681,P36507,Q9BZK7,P42695,Q14839,Q69YQ0,Q08J23,Q92785,Q14204,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,O14646,P46109,P21359,P28482,Q92974,Q00610,Q15392,O43776,Q06124,P18583,Q14683,P42345,Q96ST3,Q9Y4A5,Q14738,Q5H8A4,P55011,Q13620 63 |
| Sparse lateral eyebrow 0.3734254368143094 0.2131112449719183 0.8312401938901759 1.0 1.0 5 P61978,P62140,Q92643,Q08J23 4 |
| Retinal atrophy 0.2590723092655251 0.2103861105138404 0.8333663322758644 1.0 1.0 20 Q12830,P26196,P55011,Q92620,Q7Z6Z7 5 |
| Hypokalemia 0.3249288328588863 0.2101271968761531 0.8335683992657148 1.0 1.0 7 Q9H3U1,P05023,O00170,Q01968,P0DP25,Q9UNF1 6 |
| Abnormality of corneal size 0.2698578970310821 0.2098198779045836 0.833808258062612 1.0 1.0 31 Q9Y4P3,P18074,Q14683,P19447,P26639,Q5H8A4,Q15042,Q9BZK7,Q9UQE7,P78347 10 |
| Long toe 0.3247001079018935 0.2094259563182347 0.8341157317848802 1.0 1.0 7 P10644,Q9P2J5,Q15738 3 |
| Abnormal atrioventricular valve morphology 0.2665762376915148 0.2091223494555821 0.8343527280679288 1.0 1.0 26 P55795,Q06124,Q9Y4P3,P21333,P21359,P28482,P53701,P78347 8 |
| Oligodontia 0.3138814030730695 0.2080457917985448 0.8351932128265629 1.0 1.0 10 Q7Z6Z7,Q6NW34 2 |
| Limb girdle muscle atrophy 0.30625321440842 0.2079356838750907 0.8352791863670772 1.0 1.0 11 Q7Z392,O14979 2 |
| Abnormal conus terminalis morphology 0.3564120994737335 0.2077713786404157 0.8354074814551331 1.0 1.0 6 P14868 1 |
| Normocytic anemia 0.320821563185013 0.2076555670265235 0.8354979137145964 1.0 1.0 8 O75533,Q7Z2Z2 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.3234005486550483 0.2054626623233911 0.8372106669160295 1.0 1.0 7 Q9Y617 1 |
| Abnormality of the calvaria 0.3882753888389281 0.2046422698986676 0.8378516276233947 1.0 1.0 203 Q07864,P26640,P54132,P27635,P19447,P51659,Q9NR45,P21333,P24928,P43034,P51610,A5YKK6,O00170,Q8IY37,Q93008,P63241,Q7Z6Z7,P38606,Q9NVI1,P62266,Q03164,Q6NW34,O60701,Q93009,O75369,Q8N201,Q13428,P53992,Q15436,P40763,P54886,Q8IWS0,P98175,P22681,P36507,Q9BZK7,Q14839,Q9P2J5,Q69YQ0,Q08J23,Q92785,Q12756,Q14204,Q9UPY3,Q9BZI7,Q6PGP7,P26196,P29372,Q9Y617,P10644,O14646,P55265,P26639,P28482,P55263,Q15392,Q8IYI6,Q14692,Q06124,P18583,P18074,P42345,Q14683,Q14738,Q5H8A4,Q96T58,Q15042,P46821,Q01105,Q13620,Q15149,Q9Y3E5,Q96GM5,Q9UQE7,O00469,P42704 76 |
| Rapidly progressive 0.3194080581725044 0.203309481926989 0.8388931447908554 1.0 1.0 8 Q14203,Q15149 2 |
| Aplasia hypoplasia involving forearm bones 0.2675215186367189 0.2031185875788453 0.8390423437628847 1.0 1.0 15 P98175,P10644,O75369,Q9NVI1 4 |
| Arnold chiari type i malformation 0.5200974421437335 0.2029671027209693 0.8391607452307515 1.0 1.0 3 P62140,O14802 2 |
| Fused cervical vertebrae 0.3541196006393819 0.2015204277182663 0.8402916580543296 1.0 1.0 6 Q9NVI1,P21333 2 |
| Abnormality of reproductive system physiology 0.2921435415453319 0.2014942189603651 0.8403121493393049 1.0 1.0 112 Q07864,P54132,Q6P2Q9,P19447,P49257,P51659,P49770,Q13144,O00170,Q86W42,Q8IY37,P29401,Q9NVI1,P78347,O60934,Q12830,Q93009,P40763,Q8IWS0,P22681,Q9BZK7,Q9UN37,Q9Y4P3,P28340,Q9Y617,P10644,P51570,Q86Y56,Q92620,P35579,Q9NW13,Q06124,P18074,Q14683,O43395,Q96T58,A6NHR9,Q15042,Q13620,P49327,Q9UQE7 41 |
| Wide anterior fontanel 0.2546169542898658 0.2000862078158719 0.8414131598299828 1.0 1.0 19 Q15436,Q6NW34 2 |
| Neoplasm 0.3647951603701501 0.1999508172173471 0.8415190464466129 1.0 1.0 177 Q07864,P54132,P27635,Q7Z2Z2,P19447,O76094,P21333,Q06136,O00170,P61313,Q8IY37,Q93008,P08708,Q9NVI1,O60934,Q13428,P42766,P14324,P06737,Q9H0U3,Q15436,P40763,P18077,P22681,P36507,P50851,P33991,P60866,Q92804,P51532,Q08J23,P11802,Q92785,P53602,Q9UPY3,Q6PGP7,P10644,P26639,Q15046,P46109,P21359,P28482,Q15392,Q07020,Q01844,P00813,Q15437,P22314,Q06124,P52701,O75533,Q9H9P8,Q5H8A4,Q9NWH9,P62899,Q96GM5,P49327,P35658 58 |
| Periodontitis 0.3175083725066392 0.1975378026950906 0.8434067019203184 1.0 1.0 8 O60832,P61011,O00203 3 |
| Abnormality of the common coagulation pathway 0.2755426167411343 0.1949617090744876 0.8454229240935947 1.0 1.0 14 P49257,P40763 2 |
| Abnormality of the cheek 0.2533584604014934 0.1935991681851685 0.8464897495613928 1.0 1.0 48 Q12756,Q13428,Q8N201,O75369,P54886,P21333,O00170,P36507,P35573,Q9BZK7,Q9P2J5,Q69YQ0 12 |
| Paresthesia 0.2621897930121201 0.1929014890358611 0.8470361188548063 1.0 1.0 16 P60866,P49327,P52701 3 |
| Abnormal connection of the cardiac segments 0.2628273795195593 0.1924665683553852 0.8473767529079286 1.0 1.0 41 Q9Y4P3,Q6PGP7,Q9NVI1,Q86Y56,Q14839,P51532,Q69YQ0,P78347,Q92785 9 |
| Abnormal vitreous humor morphology 0.3502880784671125 0.1912801605125293 0.8483061037269257 1.0 1.0 6 P53701 1 |
| Neuroendocrine neoplasm 0.3150960881124067 0.190324112681498 0.8490551597869807 1.0 1.0 8 P21359 1 |
| Vestibular dysfunction 0.2580648239680158 0.189455167746609 0.8497360896682529 1.0 1.0 23 P10644,P31040,P35251,P40763,Q9UM54,P21359,O00170,P0DP25,Q9BZK7,P49327 10 |
| Biliary tract abnormality 0.2542285999967499 0.1861942387934312 0.8522924417395072 1.0 1.0 21 Q93008,P48506,P51659,P14174 4 |
| Persistence of primary teeth 0.3168423813177583 0.1860128970178978 0.8524346474806672 1.0 1.0 7 P21333 1 |
| Cellular immunodeficiency 0.3096942745429164 0.184302104107178 0.8537764633635867 1.0 1.0 9 Q15437 1 |
| Myoglobinuria 0.3087798511582561 0.1816098018100639 0.85588895604364 1.0 1.0 9 P04075,P23786,P00558,P40939 4 |
| Abnormality of the metaphysis 0.2621609933308387 0.1801105024197297 0.8570658177037207 1.0 1.0 38 Q07864,Q14807,Q7Z2Z2,Q06124,Q99575,P21333,Q9NR45,P61011,P00813,Q6NW34 10 |
| Falls 0.3113297872774075 0.1793222609606905 0.8576846684336017 1.0 1.0 8 P54886 1 |
| Metaphyseal chondrodysplasia 0.3915603640946895 0.178629949168074 0.858228276666031 1.0 1.0 4 Q7Z2Z2 1 |
| Coronal cleft vertebrae 0.5069700693324983 0.1778585330084058 0.8588340774015106 1.0 1.0 3 O75369 1 |
| Ectropion 0.2961985350792408 0.1764726064892684 0.8599226677850034 1.0 1.0 11 P19447,P26639,Q15149,P18074 4 |
| Dyscalculia 0.3103037581070866 0.1763807139200775 0.8599948551934424 1.0 1.0 8 P46821 1 |
| Squamous cell carcinoma of the skin 0.5047441365470062 0.1737985768698967 0.8620237628666096 1.0 1.0 3 P19447 1 |
| Abnormal systemic arterial morphology 0.2809073742385327 0.1736781911240303 0.862118377984304 1.0 1.0 107 Q8N5F7,P19447,P21333,P14868,P53701,P61313,P29401,P08708,Q7Z6Z7,Q9NVI1,P78347,P42766,P54886,P18077,Q9Y4L1,Q9NSD9,Q14839,P60866,Q69YQ0,Q9Y4P3,P10644,P46109,P21359,P53597,P28482,P55263,Q07020,Q6ZXV5,P22314,Q06124,Q9Y4A5,P62899,P46821,P55011 34 |
| Secondary amenorrhea 0.2585213693374228 0.1716792666123863 0.8636896866322321 1.0 1.0 15 P49770 1 |
| Low levels of vitamin d 0.3080485292995506 0.1699995242291667 0.8650105108142148 1.0 1.0 8 Q7Z2Z2,Q9NSD9 2 |
| Abnormal calcium phosphate regulating hormone level 0.3042866168786761 0.1686659614275549 0.8660593939788241 1.0 1.0 9 P21359 1 |
| Postural tremor 0.2767647192816038 0.1681118069539122 0.8664953209395017 1.0 1.0 13 Q9HA77,P54886 2 |
| Progressive muscle weakness 0.3031530380890112 0.1654758740382279 0.8685694377722777 1.0 1.0 9 Q7Z392 1 |
| Sparse scalp hair 0.2590130071910874 0.1653269544083838 0.8686866441854963 1.0 1.0 32 P19447,P26639,P51532,Q92785,P49327,P63241,Q08J23,Q6NW34 8 |
| Hyporeflexia of lower limbs 0.3030164943326372 0.1650936799693614 0.8688702474082255 1.0 1.0 9 Q9NYY8,O75787,Q5T440,Q14204 4 |
| Cerebellar atrophy 0.273911684241245 0.1640708943753076 0.8696753342091401 1.0 1.0 103 P26640,P07814,Q5T440,P17480,P19447,P51659,Q9Y6X9,P13639,P26358,P38606,O15020,P12004,Q8TEQ6,Q15334,Q13813,Q9UN37,Q12756,Q9NQT5,P35251,P26639,Q9BVA1,Q9HA77,Q9H270,O75787,Q96T60,Q9H9P8,Q8TCJ2,Q5H8A4,Q9Y3E5,Q13620,P12235,O15121,Q7Z392,P35658 34 |
| Abnormality of the musculature of the upper arm 0.3089695333236186 0.1639036172428179 0.8698070194648904 1.0 1.0 7 O14979 1 |
| Proximal upper limb amyotrophy 0.3089695333236186 0.1639036172428179 0.8698070194648904 1.0 1.0 7 O14979 1 |
| Round face 0.2660705529413645 0.1637882751678561 0.8698978220883353 1.0 1.0 14 Q03164,P41252,Q14683,P10644,Q69YQ0,Q8IYI6 6 |
| Dehydration 0.2839395646950076 0.1637318379369125 0.8699422527155158 1.0 1.0 12 P40763,P05165 2 |
| Parietal bossing 0.6018668831168901 0.1620883157329929 0.8712363072190656 1.0 1.0 2 Q06124 1 |
| Optic disc hypoplasia 0.6018668831168805 0.1620883157329774 0.8712363072190779 1.0 1.0 2 Q00839 1 |
| Acute coronary syndrome 0.2519793227523289 0.1584438349394142 0.8741070747102242 1.0 1.0 16 P49327,P78347,Q9Y4P3,P35579 4 |
| Entropion 0.3069318479406588 0.1584056735208635 0.8741371434012626 1.0 1.0 7 P19447,P38606 2 |
| Abnormal cerebral cortex morphology 0.3604636531286496 0.1572152732735111 0.8750751916531174 1.0 1.0 181 Q9NXE4,P26640,Q5T440,Q05639,P17480,P19447,Q96N66,P51659,P78527,P35606,P43034,P11498,O96008,Q8IY37,Q93008,Q7Z6Z7,P38606,P78347,Q12830,P54886,P08243,P49591,Q8TD16,P36507,Q9BZK7,P42695,Q9UPN3,P51532,Q69YQ0,Q9UN37,Q08J23,Q92785,Q12756,Q14204,O75306,Q96C86,Q9Y4P3,P26196,Q9Y617,P26639,Q00610,Q15392,Q9BVA1,Q6ZXV5,Q6Y7W6,Q96F86,O43776,O75165,Q9H267,P18583,P18074,P42345,Q9NZ01,Q14683,Q96ST3,Q9Y4A5,Q96T60,Q96T58,Q15042,P46821,P55011,Q01105,Q13620,Q96GM5,O95169,Q9UQE7,Q04637 67 |
| High palate 0.3459836389647822 0.1565889277706974 0.8755688292493569 1.0 1.0 166 P55795,Q7Z2Z2,Q5T440,P19447,P51659,P21333,P24928,P43034,A5YKK6,P61313,Q93008,Q7Z6Z7,P08708,P38606,Q9NVI1,P62266,Q03164,Q12830,Q13428,O75369,P42766,Q15436,P40763,P18077,P98175,Q9Y4L1,P22681,P36507,Q9NSD9,P60866,Q69YQ0,Q08J23,Q9BZI7,P26196,P29372,Q9Y617,P26639,P46109,P21359,P28482,Q92974,Q8NBU5,Q00610,Q07020,Q15437,P22314,Q06124,P18583,P18074,Q14683,Q96ST3,Q14738,Q96T58,P62899,P46821,A6NHR9,P55011,Q9UID3,Q01105,Q15042,Q13620,Q96GM5,Q9UQE7 63 |
| Corneal scarring 0.5982142857142829 0.1563598448239265 0.8757493870008344 1.0 1.0 2 Q03001 1 |
| Vertebral fusion 0.302585164947197 0.1550260651949077 0.8768007686600725 1.0 1.0 8 Q9NVI1 1 |
| Abnormality of lower limb epiphysis morphology 0.295895302242922 0.1547723828369932 0.8770007641238069 1.0 1.0 10 Q9H3U1,Q14807,P61011,Q7Z2Z2 4 |
| Diffuse white matter abnormalities 0.2991701341844754 0.154510654609436 0.8772071109366955 1.0 1.0 9 Q96T60,O95169,O75306 3 |
| Abnormality of the nasal skeleton 0.3802146149362799 0.1541911381375856 0.8774590293733806 1.0 1.0 4 P10644 1 |
| Abnormality of the sense of smell 0.2493805512806616 0.1503174365787718 0.8805141768877416 1.0 1.0 16 O75165,Q04637 2 |
| Abnormality of the gallbladder 0.2551536364016884 0.1502695423593038 0.8805519617819539 1.0 1.0 33 P06744,Q9Y4P3,P53992,Q5H8A4,A5YKK6,Q15437,Q69YQ0,Q9UN37,P78347 9 |
| Optic nerve hypoplasia 0.2611267064388568 0.1487236926270727 0.8817716651379439 1.0 1.0 14 Q9NVI1 1 |
| Hoarse voice 0.2475821087005084 0.1486162110993341 0.8818564804647755 1.0 1.0 24 Q9Y4P3,P55265,P21333,P28482,P43243,O00170,Q69YQ0,P78347 8 |
| Abnormal fingernail morphology 0.2516471917753888 0.1483170468769732 0.8820925626849747 1.0 1.0 42 Q9Y4P3,P19447,P26639,O75533,P40763,O00170,P36507,Q15149,P51532,Q08J23,P78347,Q92785 12 |
| Abnormality of the pubic bone 0.3464346888213309 0.1468509365590028 0.8832496789066755 1.0 1.0 5 P21333 1 |
| Abnormality of toe 0.2997789750929366 0.1462373969174536 0.883733984410128 1.0 1.0 126 P27635,P51659,Q9Y6X9,P21333,P51610,Q86W42,Q93008,Q7Z6Z7,P63241,Q9NVI1,P78347,Q03164,Q12830,Q93009,O75369,Q8N201,O60488,P49588,P53992,Q8IWS0,Q9BZK7,Q9P2J5,Q69YQ0,P15924,Q08J23,Q12756,Q96C86,Q9BZI7,Q9Y4P3,P26196,P10644,P46109,P28482,P00813,Q14692,Q14683,Q96ST3,Q96T60,Q14738,Q5H8A4,Q96T58,Q15042,P55011,Q13620,Q15149,Q9UQE7,Q9Y3E5 47 |
| Motor axonal neuropathy 0.2847253065462373 0.1438069184602602 0.8856529395256207 1.0 1.0 11 Q7Z392,Q9Y6X9 2 |
| Psychotic episodes 0.5896915584415556 0.1435363344518615 0.8858666175863992 1.0 1.0 2 Q5JRX3 1 |
| Severe expressive language delay 0.5892857142857115 0.1429446071038633 0.8863339289116006 1.0 1.0 2 Q7Z3K3 1 |
| Ectopic anus 0.2838588473220248 0.1414829518597703 0.887488427010318 1.0 1.0 11 P26196,Q15022,P53701,Q14839 4 |
| Abnormal blood sodium concentration 0.3299657618122053 0.1414238303331175 0.8875351295812643 1.0 1.0 6 P35658 1 |
| Abnormal urine ph 0.252446227936833 0.1408108451601098 0.8880193752357559 1.0 1.0 33 Q96RQ3,P50747 2 |
| Abnormality of femur morphology 0.2297919946446263 0.1400139194501373 0.8886489925928869 1.0 1.0 54 Q14807,Q7Z2Z2,O95602,Q99575,P21333,Q9NR45,P46109,P53597,P61011,P28482,P55011,Q14839,O00469,Q9NVI1,Q6NW34 15 |
| Delusions 0.2579504968747332 0.1394868304428385 0.8890654619893144 1.0 1.0 14 P49770 1 |
| Impaired smooth pursuit 0.2571162261431799 0.1371181244248903 0.8909374265609504 1.0 1.0 14 P43034,P35251,O15020,P13639 4 |
| Abnormal nerve conduction velocity 0.2510268266776506 0.1360039689845449 0.8918181433255201 1.0 1.0 33 Q12756,P31930,P49588,P19447,Q96T60,P51659,Q9Y6X9,P48643,O60231,P43243,O15121,Q9Y3E5,Q14204 13 |
| Meningocele 0.2979558365994493 0.1353050080062425 0.8923707256759807 1.0 1.0 7 Q96ST3,P21333 2 |
| Generalized hypopigmentation of hair 0.2915689479871013 0.1346464408052262 0.8928914214656116 1.0 1.0 9 O60832,P10644,O00203 3 |
| Abnormal dental root morphology 0.3268292682926833 0.1344128988901828 0.8930760823522448 1.0 1.0 6 Q13045,O60832,P06748,Q01968,Q9NX24 5 |
| Confusion 0.2461780585864366 0.1334640248884354 0.8938264136767782 1.0 1.0 15 P19447,P49327,P26358 3 |
| Abnormal corpus striatum morphology 0.2717606917192763 0.129867071982492 0.8966715963707592 1.0 1.0 12 O95169,Q9BVA1,P49792,O75306 4 |
| Abnormality of digestive system morphology 0.3634459868293221 0.1295900209426964 0.8968907988016255 1.0 1.0 191 Q07864,P20585,P54132,Q7Z2Z2,O15143,P21333,P51610,P61011,P53701,P61313,Q86W42,Q93008,P08708,P14174,Q9NVI1,P78347,O60934,Q13428,O75369,P42766,O60488,P53992,P40763,P54886,P18077,P98175,Q9Y4L1,P22681,Q9NSD9,P50851,Q14839,P60866,Q69YQ0,Q08J23,P11802,Q9UPY3,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,P28340,P29372,P10644,P46109,Q86Y56,P28482,Q8NBU5,Q15392,Q07020,Q01844,Q6ZXV5,Q15437,P52701,P18583,P18074,P42345,Q14683,P48506,P49327,Q96ST3,Q14738,Q9NRZ9,Q96T58,P62899,P46821,P55011,Q9UID3,Q15149,Q96GM5,Q7LBC6,Q7Z392,Q9UQE7,Q9Y3E5 73 |
| Megalencephaly 0.5795454545454525 0.1292563221405603 0.8971548313170992 1.0 1.0 2 P42345 1 |
| Long clavicles 0.4776396338787764 0.1290033699784538 0.8973549822556026 1.0 1.0 3 O75369 1 |
| Axonal regeneration 0.5791396103896076 0.1287072753578718 0.897589278394026 1.0 1.0 2 P19367 1 |
| Increased body weight 0.2436367243414468 0.1265854796271289 0.8992684900601553 1.0 1.0 86 P54132,Q6P2Q9,Q8N5F7,P51610,O00170,Q9HCK8,Q93008,P78347,Q93009,Q12830,O60488,P53992,Q8IWS0,Q9BZI7,Q9Y4P3,P26196,P10644,Q92620,O75787,Q14683,P42345,Q96ST3,Q96T60,O43395,Q96T58,Q13620,P12235,Q9UQE7 28 |
| Abnormal gastrointestinal motility 0.2315658168959598 0.1258863539973877 0.899821884670349 1.0 1.0 19 P11802,Q7Z392,P40763,P21333 4 |
| Abnormal peripheral nervous system physiology 0.2469727043337117 0.1252412114940123 0.9003325920207657 1.0 1.0 40 P31930,P49588,P19447,Q96T60,P51659,Q9Y6X9,Q9ULM3,P48643,O60231,P43243,O15121,Q9Y3E5,Q14204 13 |
| Stridor 0.3653517850136428 0.125192677124967 0.9003710144426633 1.0 1.0 4 P21333 1 |
| Proportionate short stature 0.2445089726922953 0.1250923695809753 0.9004504240394897 1.0 1.0 28 Q07864,P53701,Q15392,Q6NW34 4 |
| Aplasia hypoplasia of the optic nerve 0.2406213901335238 0.1248668608415217 0.9006289542096144 1.0 1.0 16 Q9NVI1 1 |
| Retinal vascular tortuosity 0.2840186965823413 0.1239769869335762 0.9013334962358316 1.0 1.0 10 P78347,Q9Y4P3,O75306 3 |
| Abnormal eyelid physiology 0.321826437888884 0.1236149724836111 0.9016201370885136 1.0 1.0 6 Q13428 1 |
| Abnormal serum interferon level 0.3643379366368868 0.1233402589560769 0.9018376621610928 1.0 1.0 4 P55265,P42224,P09884 3 |
| Broad columella 0.5750811688311658 0.1233099353870628 0.9018616735768286 1.0 1.0 2 Q8TC12 1 |
| Bilateral single transverse palmar creases 0.2837266807236767 0.1232646591251444 0.9018975253004332 1.0 1.0 10 Q6KC79,Q9UQE7,Q14683 3 |
| Abnormal c peptide level 0.4730745953502689 0.1223028917467583 0.902659141910484 1.0 1.0 3 A5YKK6 1 |
| Food intolerance 0.5742694805194776 0.1222507313413702 0.9027004499245996 1.0 1.0 2 Q9H3U1 1 |
| Abnormal elasticity of skin 0.2281569983659599 0.1216354195119878 0.9031877610371616 1.0 1.0 53 P21333,O00170,P38606,P78347,Q6NW34,P54886,Q15334,P36507,Q9BZK7,Q9Y4P3,P28340,Q9Y617,P10644,Q14807,O75787,Q06124,P18583,Q96T58,Q13620 19 |
| Puberty and gonadal disorders 0.2934346032844266 0.1214336327391794 0.9033475789120402 1.0 1.0 125 Q07864,P27635,Q6P2Q9,P19447,P49770,Q13144,O00170,Q8IY37,Q93008,Q7Z6Z7,P63241,Q9NVI1,P78347,Q93009,Q12830,P06737,P40763,Q8IWS0,P22681,Q9UN37,Q9Y4P3,P26196,P28340,Q9Y617,P10644,P51570,P21359,Q92620,Q9NW13,Q06124,P18074,Q14683,Q96T60,O43395,Q96T58,A6NHR9,P55011,Q15042,Q13620,Q9UQE7,Q9Y3E5 41 |
| High narrow palate 0.2396669346136382 0.1208621756417318 0.9038002019516584 1.0 1.0 25 Q06124,P31153,P18074,Q96ST3,P19447,P26639,P46109,Q96T58,P28482,Q6KC79 10 |
| Hypoplastic female external genitalia 0.2681679540905439 0.1207013754676959 0.9039275694972744 1.0 1.0 12 Q14683,Q6DKJ4,Q15042,A6NHR9,Q6KC79,Q9UQE7 6 |
| Anterior rib cupping 0.3627749255698964 0.1205159608078199 0.9040744368977536 1.0 1.0 4 P00813 1 |
| Delayed cranial suture closure 0.2388527342420581 0.1185904897390861 0.9055998002677494 1.0 1.0 25 Q93009,P26196,Q15436,P51659,P54886,P21333,Q9UQE7,P38606,Q08J23 9 |
| Disproportionate short stature 0.2283738726303555 0.1174355180077564 0.9065149394867578 1.0 1.0 19 Q03164,Q14807,O75369,P10644,Q15392 5 |
| Nephritis 0.2316414645166157 0.1168801065352014 0.906955062775448 1.0 1.0 18 P53621,P35579 2 |
| Anisocoria 0.4681271460617698 0.1153138534854247 0.9081963581193468 1.0 1.0 3 Q96ST3 1 |
| Methylmalonic acidemia 0.3312249445779102 0.1151199906828762 0.9083500149712423 1.0 1.0 5 P53597,P51610 2 |
| Methylmalonic aciduria 0.3312249445779102 0.1151199906828762 0.9083500149712423 1.0 1.0 5 P53597,P51610 2 |
| Hyperkinetic movements 0.2797825002990844 0.1138554988601853 0.9093523428565996 1.0 1.0 10 Q7Z392 1 |
| Abnormal femoral neck morphology 0.2413780983965541 0.113389327250446 0.9097219007615024 1.0 1.0 29 Q14807,Q99575,P21333,Q9NR45,P46109,P28482,P61011,P55011,Q14839 9 |
| Seborrheic dermatitis 0.3156585036718592 0.1109562375585021 0.911651049746222 1.0 1.0 6 P53992,P29401,Q9HCC0 3 |
| Abnormal saccadic eye movements 0.2288266440176684 0.1088310780426538 0.9133364735019688 1.0 1.0 21 O15020,Q96T60,O60231,O95169,O75306 5 |
| Hepatitis 0.2549998397036588 0.1084543459817662 0.913635293459416 1.0 1.0 13 P49327,Q9NWH9 2 |
| Dysphonia 0.2366102645789739 0.1058930266194332 0.9156672269116016 1.0 1.0 27 Q9Y4P3,P19447,P54886,P21359,Q14203,P78347 6 |
| Tetraplegia tetraparesis 0.2417879827529553 0.1056693448396393 0.9158447034161756 1.0 1.0 38 Q14683,Q96T60,Q9Y617,Q9H9P8,P54886,P43034,Q9HA77,Q5JPH6 8 |
| Hyperlipidemia 0.2352493985502037 0.1054863550852518 0.9159898966451788 1.0 1.0 26 P49257 1 |
| Quadriceps muscle weakness 0.4596674908436539 0.1040152908925048 0.9171572140153836 1.0 1.0 3 P12235 1 |
| Aplasia hypoplasia of the thymus 0.2529904665178153 0.1036998370980627 0.9174075559359902 1.0 1.0 13 P53992,Q13428,P00813,Q6PGP7 4 |
| Abnormality of the thymus 0.2529904665178153 0.1036998370980627 0.9174075559359902 1.0 1.0 13 P53992,Q13428,P00813,Q6PGP7 4 |
| Abnormal venous morphology 0.2242778437431271 0.1024361761575645 0.9184104702654116 1.0 1.0 20 P53992,P98175,Q86Y56,Q7LBC6,P38606 5 |
| Abnormality of the antitragus 0.5576298701298671 0.10200595666906 0.9187519470115372 1.0 1.0 2 Q9H2M9 1 |
| Prominent antitragus 0.5576298701298671 0.10200595666906 0.9187519470115372 1.0 1.0 2 Q9H2M9 1 |
| Abnormal location of ears 0.3575378772991383 0.1015520642756643 0.9191122298215352 1.0 1.0 192 Q07864,P26640,Q9NXE4,P27635,O14617,Q7Z2Z2,Q05639,P51659,P78527,P21333,P43034,A5YKK6,P61313,Q93008,P63241,Q7Z6Z7,P08708,P38606,P62266,P78347,Q93009,Q8N201,P42766,P54886,P18077,O00203,P22681,P36507,Q14839,P60866,Q69YQ0,Q92785,Q96C86,Q9BZI7,Q9Y4P3,Q6PGP7,Q9Y617,P21359,Q15392,Q07020,O43776,P33992,Q9H267,Q14683,Q9Y4A5,Q9NRZ9,O60231,P62899,P46821,P55011 50 |
| Delayed ability to roll over 0.4572077327644767 0.1008831106850098 0.9196432504216304 1.0 1.0 3 P18583 1 |
| Hydrocephalus 0.2021172776904993 0.1007154930059548 0.9197763122722902 1.0 1.0 61 Q93009,Q14683,P19447,P10644,Q9NRZ9,P21333,Q86Y56,P21359,P53701,P36507,Q15392,Q9NVI1 12 |
| Abnormal t cell proliferation 0.5556006493506515 0.0997259896390329 0.9205618666452752 1.0 1.0 2 P17812 1 |
| Reduced antigen specific t cell proliferation 0.5556006493506515 0.0997259896390329 0.9205618666452752 1.0 1.0 2 P17812 1 |
| Abnormal femoral neck head morphology 0.2394396823214133 0.0988129199751798 0.921286810043545 1.0 1.0 35 Q14807,Q7Z2Z2,Q99575,P21333,Q9NR45,P46109,P28482,P61011,P55011,Q14839 10 |
| Pallor 0.2371136370382514 0.0987866539727071 0.9213076652446304 1.0 1.0 43 Q07020,P18077,P21359,P62899,O00170,P61313,P60866,P08708,Q9NVI1 9 |
| Hepatic cysts 0.5539772727272697 0.0979310819066547 0.9219870188134904 1.0 1.0 2 Q14697 1 |
| Anarthria 0.3084688282636643 0.0971139222226668 0.922635924787528 1.0 1.0 6 P54886 1 |
| Palpitations 0.2580264433561117 0.0968618049421999 0.9228361413713684 1.0 1.0 12 P21359,P31040,P12235,P19022 4 |
| Bone pain 0.2254870807796885 0.0965387814404157 0.923092674612486 1.0 1.0 22 Q07864,P22681,P40763 3 |
| Hypoplastic labia majora 0.2750795881536901 0.096415073610342 0.9231909208862774 1.0 1.0 9 A6NHR9,Q9UQE7,Q14683 3 |
| Abnormal labia majora morphology 0.2750795881536901 0.096415073610342 0.9231909208862774 1.0 1.0 9 A6NHR9,Q9UQE7,Q14683 3 |
| Vascular neoplasm 0.2359170973227801 0.0964040009317441 0.9231997146423678 1.0 1.0 30 P21359,Q15436,Q15437 3 |
| Abnormality of circulating enzyme level 0.215900071127825 0.0959709383368642 0.923543653844386 1.0 1.0 71 P53985,Q5JTV8,Q9Y4P3,O60231,A6NHR9,P35573,P12235,Q15149,O14979,Q7Z392,Q6ZXV5,P15924,P22314 13 |
| Abnormality of the coagulation cascade 0.2352232362991198 0.0946396233797462 0.924601076160458 1.0 1.0 30 Q7Z2Z2,Q06124,P10644,P49257,P40763,P21333,P51571,Q9P2J5,P38606 9 |
| Abnormal vertebral morphology 0.2394771138485382 0.0938653031062036 0.925216156219901 1.0 1.0 88 Q7Z2Z2,Q9Y4P3,Q99575,Q15436,Q9NR45,P21359,Q8IY37,P63241,O00469,Q9NVI1,Q6NW34 11 |
| Progressive microcephaly 0.2354501261618101 0.0932135007149447 0.9257339490679586 1.0 1.0 31 Q9NXE4,P26640,Q9NQT5,Q96T60,P08243,P43034,Q9Y3E5,P38606 8 |
| Vertigo 0.2221240741351982 0.0931242905673871 0.9258048202024276 1.0 1.0 21 P21359,P10644,P40763,P49327 4 |
| Prematurely aged appearance 0.2372609147309133 0.0928149324001185 0.9260505878806128 1.0 1.0 35 Q06124,Q9Y4P3,P18074,P19447,P26639,P54886,Q15042,P36507,Q9BZK7,P49327,P38606,P78347 12 |
| Abnormal blood gas level 0.4505861962452838 0.0927899045895795 0.9260704713784048 1.0 1.0 3 A5YKK6 1 |
| Abnormality of central nervous system electrophysiology 0.2878920658385818 0.0925501207550227 0.9262609714570662 1.0 1.0 126 P27635,O95319,O14617,Q05639,P17480,P19447,Q9Y6X9,P51610,P43034,Q13618,P38606,O60701,P49588,Q9ULM3,P08243,P49591,Q8IWS0,P36507,Q13813,Q08J23,Q96C86,Q9Y617,P21359,Q8NBU5,Q00610,Q9HA77,Q96F86,Q8IYI6,Q9NZ01,Q14683,Q96T60,Q5H8A4,P46821,P55011,Q13620,Q7Z392,Q9Y3E5,P42704,Q96N66 39 |
| Abnormality of the adrenal glands 0.2331102766081784 0.0917224892501667 0.9269185288715098 1.0 1.0 45 Q07864,Q7Z392,P10644,P51659,P21359,O00170,P33991,Q8IY37,Q13618 9 |
| Abnormal blood potassium concentration 0.2624607521511342 0.0905459393175752 0.9278533895549872 1.0 1.0 11 Q9H3U1,Q13618,O00170,P0DP25 4 |
| Sleep apnea 0.2167813390421942 0.0903792416408461 0.92798585194536 1.0 1.0 19 Q14203,Q9UID3,O00170,P42704 4 |
| Distal sensory impairment of all modalities 0.3432168968318503 0.0883947263974603 0.929562952615686 1.0 1.0 4 P19367,P48643,O15269 3 |
| Poor fine motor coordination 0.3432168968318484 0.0883947263974573 0.9295629526156884 1.0 1.0 4 Q8TC12,Q6PI48,P55072 3 |
| Vascular calcification 0.3424045491470388 0.0871885705611137 0.930521624130088 1.0 1.0 4 Q9Y3Z3,P55265,P42224 3 |
| Abnormality of upper lip 0.3664555231593501 0.086988786263432 0.9306804255832548 1.0 1.0 208 Q9NXE4,P55795,P27635,O14617,Q05639,Q8N5F7,P51659,P78527,P21333,P51610,P51571,P43034,P35606,A5YKK6,Q86W42,Q8IY37,Q93008,P63241,Q7Z6Z7,P38606,P78347,Q03164,Q12830,O60934,O60701,O75369,Q8N201,Q13428,O60488,P53992,Q15436,O00203,P22681,P36507,Q9BZK7,P42695,P51532,Q69YQ0,Q08J23,Q92785,Q12756,Q96C86,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,P29372,Q9Y617,Q15046,P46109,P21359,P28482,Q92974,Q00610,P18583,Q14683,P42345,Q96ST3,Q9Y4A5,Q14738,Q5H8A4,Q96T58,Q15042,P46821,P55011,P35573,Q9UID3,Q13620,Q96GM5,Q7LBC6,Q9UQE7,Q9Y3E5 72 |
| Synostosis of carpal bones 0.4452435976021867 0.0866153869256954 0.9309772348692869 1.0 1.0 3 P21333 1 |
| Scrotal hypoplasia 0.2240648342193082 0.084863052938898 0.932370265271448 1.0 1.0 16 Q8IWS0,Q13428,Q9Y4A5,Q8TCJ2 4 |
| Abnormality of the leydig cells 0.5409902597402566 0.0844864234948652 0.9326696967283216 1.0 1.0 2 P52788 1 |
| Persistent head lag 0.2747134161646146 0.084097804779282 0.9329786699952008 1.0 1.0 7 Q9NSD9 1 |
| Bowing of the legs 0.2316101317788421 0.0819855904867205 0.9346581720036796 1.0 1.0 43 Q7Z2Z2,Q9Y4P3,P21359,P36507,O00469,Q6NW34 6 |
| Absence of subcutaneous fat 0.2998676448211534 0.0818421669347888 0.9347722241603972 1.0 1.0 6 P19447,P26639 2 |
| Temperature instability 0.2674968550780257 0.0810747256716732 0.9353825254973098 1.0 1.0 9 Q14683 1 |
| Tics 0.3116213476711302 0.0803103975437609 0.935990388883032 1.0 1.0 5 P46109 1 |
| Amenorrhea 0.2306908954269639 0.0799229830598957 0.9362985104603834 1.0 1.0 32 Q14683,P51659,P49770,A6NHR9,O00170,Q13144,Q8IY37 7 |
| Aplasia hypoplasia of the phalanges of the hand 0.2291468739560599 0.0795229759837038 0.9366166572890008 1.0 1.0 45 Q03164,O75369,Q9BZI7,O60488,Q14683,P10644,P42345,P21333,P51610,Q8IWS0,P46109,A5YKK6,P28482,Q9UQE7,Q93008,P51532,Q9NVI1,Q6NW34 18 |
| Triangular mouth 0.297967479674798 0.0786564260708476 0.9373059050050274 1.0 1.0 6 Q10713,P18074,Q6DKJ4,O60566,P62140 5 |
| Edema of the dorsum of feet 0.5336850649350616 0.0776207475138856 0.938129738042568 1.0 1.0 2 Q9Y5S9 1 |
| Cerebellar cortical atrophy 0.5336850649350617 0.0776207475138856 0.938129738042568 1.0 1.0 2 O75312 1 |
| Edema of the dorsum of hands 0.5336850649350616 0.0776207475138856 0.938129738042568 1.0 1.0 2 Q9Y5S9 1 |
| Loss of ability to walk 0.2625449363392294 0.07736307977474 0.9383347107976872 1.0 1.0 10 Q15149,P55265,Q9H269,Q14683 4 |
| Diastasis recti 0.4365421264042456 0.0772251740493636 0.9384444154480254 1.0 1.0 3 Q69YQ0 1 |
| Short clavicles 0.2682843405324516 0.0771071031113142 0.9385383423606012 1.0 1.0 8 P21333 1 |
| Small earlobe 0.3095896511323022 0.0770922202830187 0.9385501818979498 1.0 1.0 5 P98175 1 |
| Abnormality of the voice 0.2603722255739742 0.0766263358459847 0.9389208075682164 1.0 1.0 107 P54132,P19447,Q9Y6X9,P21333,P43243,O00170,Q14203,Q7Z6Z7,P78347,Q12830,P53992,P54886,Q69YQ0,Q9BZI7,Q9Y4P3,P26196,P28340,P26639,P55265,P21359,Q69YN2,P28482,Q6Y7W6,O75787,O75165,Q06124,P18074,Q14683,Q96ST3,P54136,P55011,Q6KC79,Q15149,Q9UQE7,Q04637 35 |
| Abnormality of vitamin d metabolism 0.2642242556796456 0.0748864819921542 0.9403050321621058 1.0 1.0 9 Q7Z2Z2,Q9NSD9 2 |
| Polydactyly 0.2261208392789777 0.0715813690866537 0.9429350673498272 1.0 1.0 31 P54132,P53992,Q5H8A4,P21333,P98175,P53597,Q93008 7 |
| Broad phalanx of the toes 0.3310056620240995 0.0713201076525319 0.9431429923856024 1.0 1.0 4 Q96T60 1 |
| Stroke 0.2149874989230339 0.0712671434294277 0.9431851444603656 1.0 1.0 23 P21359,Q9Y4P3,P42704,P21333 4 |
| Food allergy 0.4295574502639142 0.0702707977103147 0.9439781250843348 1.0 1.0 3 Q9Y5S9,Q01082 2 |
| Distal lower limb muscle weakness 0.2284760284730231 0.0702028290150685 0.9440322226548388 1.0 1.0 14 Q96T60,Q15149,Q5T440 3 |
| Bone spicule pigmentation of the retina 0.3047541649735907 0.0697227961917024 0.944414297196116 1.0 1.0 5 P36405,O75643,P50213,Q8WWY3 4 |
| Absent thumbnail 0.4270475069592435 0.0678956387665153 0.9458687105037846 1.0 1.0 3 Q96T60 1 |
| Cerebellar cyst 0.2263242656372199 0.0674085986735688 0.9462564240092892 1.0 1.0 34 Q9NQT5,Q9Y617,Q9UID3,Q93008,P51532,Q92785 6 |
| Aplasia hypoplasia involving bones of the thorax 0.2178472926901923 0.0672389442120896 0.946391482262426 1.0 1.0 26 Q03164,O75369,Q06124,P21333,Q96T58,P98175,Q14839,P22314 8 |
| Bird like facies 0.2906790276487073 0.0670615191390126 0.9465327281797248 1.0 1.0 6 P19447,P26639 2 |
| Platybasia 0.3275022326142445 0.0668336747957763 0.9467141147217684 1.0 1.0 4 O75369 1 |
| Abnormal diaphysis morphology 0.2075661732476696 0.0668242156977913 0.9467216451553556 1.0 1.0 56 Q14807,Q7Z2Z2,Q06124,O95602,Q9Y4P3,P21333,P46109,P21359,P28482,O00170,P36507,O00469,P78347,Q6NW34 14 |
| Pendular nystagmus 0.3024841681592995 0.0664030212952038 0.9470569648683588 1.0 1.0 5 Q9BZK7 1 |
| Shyness 0.5198863636363602 0.0659606158997695 0.947409181095495 1.0 1.0 2 P09884 1 |
| Synostosis of metacarpals metatarsals 0.5198863636363602 0.0659606158997695 0.947409181095495 1.0 1.0 2 P16435 1 |
| Narrow nasal bridge 0.5198863636363602 0.0659606158997695 0.947409181095495 1.0 1.0 2 Q6ZRS2 1 |
| Abnormal lower limb bone morphology 0.2805860012762146 0.0658039458016333 0.9475339147521992 1.0 1.0 126 Q9NXE4,Q7Z2Z2,O95602,Q9NR45,P21333,P61011,Q93008,Q7Z6Z7,Q9NVI1,Q6NW34,Q03164,Q12830,Q93009,O75369,Q99575,P53992,Q8IWS0,P98175,Q92979,Q9BZK7,Q14839,Q69YQ0,Q08J23,Q12756,P26196,P10644,Q9Y617,P46109,P21359,P53597,P28482,Q15392,P00813,Q14807,O75787,P18583,P18074,Q14683,Q96T60,Q9Y4A5,Q5H8A4,Q9NWH9,Q96T58,P55011,Q13620,Q9UQE7,O00469 47 |
| Chills 0.4246853430775564 0.0657191548084506 0.947601422048204 1.0 1.0 3 P40939,P11171 2 |
| Abnormal metaphyseal trabeculation 0.3265637692932616 0.0656625828823559 0.9476464626280988 1.0 1.0 4 O60832,Q9NX24,P06748 3 |
| Oral leukoplakia 0.3265637692932616 0.0656625828823559 0.9476464626280988 1.0 1.0 4 O60832,Q9NX24,P06748 3 |
| Esophageal stenosis 0.3265637692932616 0.0656625828823559 0.9476464626280988 1.0 1.0 4 O60832,Q9NX24,P06748 3 |
| Depression 0.2241755861999354 0.0655203161466287 0.9477597311436337 1.0 1.0 82 O00170,P26358,Q14203,P78347,P49591,P60866,Q92804,Q08J23,Q96C86,Q9Y4P3,P10644,P46109,Q96F86,O75165,P52701,Q9NZ01,Q14683,P55011,P12235,Q04637,Q96N66 21 |
| Abnormal corpus callosum morphology 0.3732673682722889 0.065487938290786 0.9477855095706362 1.0 1.0 227 O95319,P17480,Q9NR45,P51571,Q9BW92,Q5JPH6,Q03164,Q12830,P49588,P49591,Q8TD16,Q13813,P42695,Q9UN37,Q92785,Q12756,Q96C86,P26196,P55265,P21359,Q69YN2,Q00610,Q15392,Q9HA77,Q6ZXV5,O43776,O75787,P18583,P18074,P42345,P54136,Q9Y4A5,Q14738,P46821,Q7LBC6,P26640,P07814,P78527,P43034,P53701,Q93008,Q7Z6Z7,Q9NVI1,P54886,P36507,Q69YQ0,Q14204,Q9Y617,Q96F86,Q9NZ01,Q14683,O60231,P55011,Q9UID3,Q5T440,Q05639,P19447,P24928,P35606,Q86W42,P08243,P51532,Q9BZI7,P29372,Q96ST3,Q96T60,Q9H9P8,Q01105,Q96N66,P51659,P14868,A5YKK6,P38606,Q93009,P98175,Q9UPN3,Q08J23,P26639,Q9BVA1,Q9H270,Q8IYI6,Q5H8A4,Q15042,Q13620,Q96GM5 85 |
| Hydrocele testis 0.4234673162809631 0.0646189599274959 0.9484773884198912 1.0 1.0 3 Q9UBX3,Q9NVI7 2 |
| Limb girdle muscle weakness 0.2040238041523328 0.0632379035337335 0.9495770625109672 1.0 1.0 20 Q9Y6X9,A6NHR9,P12235,P43243,Q15149,O14979 6 |
| Testicular atrophy 0.3245329000812378 0.0631723513057398 0.949629261253332 1.0 1.0 4 P00492,P52788,Q9NX24 3 |
| Nyctalopia 0.2097137746931086 0.0622147405313499 0.950391823983811 1.0 1.0 23 Q6P2Q9,O43395,Q9UM54,P40939,Q92620 5 |
| Bronchomalacia 0.3225020308692182 0.0607420024409631 0.9515646803086846 1.0 1.0 4 O75369,Q9H9B1,P16435 3 |
| Childhood onset 0.220521652794533 0.0604944307930135 0.9517618513116356 1.0 1.0 31 Q9BZI7,O60488,P53621,P40763,Q8TEQ6,P14868,Q14204 7 |
| Kyphoscoliosis 0.22212522422047 0.0603408779271071 0.9518841453641158 1.0 1.0 45 Q14807,Q06124,Q99575,P18583,Q96T60,P54886,P21333,P21359,Q15042,Q8NBU5,Q9NW13,P22314,Q6NW34 13 |
| Myopathy 0.2058060282103004 0.059974393683514 0.9521760288495198 1.0 1.0 70 Q9Y4P3,P48506,P10644,P18206,O60231,Q13085,P35573,P12235,Q15149,O14979,Q7Z392,P15924,P22314,O75306 14 |
| Abnormal cardiac septum morphology 0.3197327765690883 0.0599043388416224 0.9522318242074236 1.0 1.0 164 Q15477,Q4G0J3,P55795,P27635,O95602,Q8N5F7,P19447,P21333,P53701,P61313,Q86W42,Q93008,Q13618,P08708,P29401,P38606,Q9NVI1,P78347,O75369,P42766,P53992,P18077,P98175,P36507,Q14839,P60866,P51532,Q69YQ0,Q92785,O75306,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,P26639,P46109,P21359,P53597,P28482,P55263,Q07020,Q06124,Q9H267,P18583,P18074,Q14683,Q96T60,Q9Y4A5,Q14738,Q5H8A4,Q96T58,P62899,P55011,Q6KC79,Q96GM5,Q7LBC6,Q9UQE7 57 |
| Granulocytopenia 0.3217885250031672 0.0599022733711551 0.952233469260212 1.0 1.0 4 Q9Y4L1 1 |
| Short femur 0.2973897374393668 0.0592739479946048 0.9527339111097748 1.0 1.0 5 P53597 1 |
| Anhidrosis 0.4169802574496226 0.0590086125943503 0.952945248209143 1.0 1.0 3 Q12756 1 |
| Abnormality of limb epiphysis morphology 0.2028966396777313 0.0589342686829243 0.9530044630150598 1.0 1.0 18 Q14807,Q7Z2Z2,P10644,P21333,P61011 5 |
| Skeletal myopathy 0.2970273947352783 0.0587836833058209 0.9531244048204356 1.0 1.0 5 P31040,P40939 2 |
| Basal ganglia gliosis 0.2576880311646157 0.0586547783640488 0.9532270789230628 1.0 1.0 8 O95169,O75306 2 |
| Abnormal hypothalamus morphology 0.4155863125052993 0.0578569913867874 0.9538625416026804 1.0 1.0 3 Q9H269 1 |
| Bile duct proliferation 0.4147655482231712 0.057187699183108 0.9543956767545284 1.0 1.0 3 P51659 1 |
| Glucose intolerance 0.2154844743915394 0.0542470501615262 0.9567383352364374 1.0 1.0 78 Q9NXE4,P54132,Q7Z2Z2,Q6P2Q9,Q9Y6M1,Q06136,P61011,A5YKK6,O00170,P29401,P78347,P40763,P50851,O75306,Q9Y4P3,P28340,P10644,P55265,Q969M3,Q92620,O43395,P12235,Q9Y3E5 23 |
| Ecchymosis 0.2349362944135063 0.0535599481303486 0.9572857674440564 1.0 1.0 12 P10644,O00170,P40763 3 |
| Incomplete penetrance 0.2052267161311657 0.052466481764282 0.9581570022118732 1.0 1.0 24 Q9NTZ6,P52701,Q6P2Q9,Q9NWH9 4 |
| Abnormality of peripheral nerves 0.2191623803856105 0.0521147885260203 0.9584372294392428 1.0 1.0 35 P31930,P49588,P19447,Q96T60,P51659,Q9Y6X9,P48643,O60231,P43243,O15121,Q9Y3E5,Q14204 12 |
| Abnormality of the shoulder girdle musculature 0.2086485141928087 0.0520752018072831 0.9584687722400584 1.0 1.0 26 O75369,Q06124,P21333,A6NHR9,P43243,P12235,O14979 7 |
| Abnormal aortic valve morphology 0.2165215374706787 0.0516493427475748 0.958808101952557 1.0 1.0 32 Q9Y4P3,O60488,Q6PGP7,P53992,Q14738,P21333,P22681,P36507,Q9UQE7,Q9NVI1,P78347 11 |
| Vocal cord paralysis 0.2044435450936186 0.0504525798368515 0.9597617370528988 1.0 1.0 16 P21359 1 |
| Lipid accumulation in hepatocytes 0.1978386993422869 0.0498799130695558 0.9602180844235166 1.0 1.0 58 P51659,P40939,Q9BW92,Q5JPH6,Q9Y285,Q96RQ3,Q9H9J2,Q9NSD9,Q9P2J5,Q9UN37,P28340,P53597,P55263,Q9HA77,O75787,Q96T58,Q7Z392,Q9Y3E5,P42704 19 |
| Ectopia lentis 0.2894199676196124 0.0489971862053156 0.960921538331038 1.0 1.0 5 Q12797 1 |
| Decreased activity of mitochondrial complex ii 0.4023164966545324 0.0478133220745521 0.9618650192200808 1.0 1.0 3 Q5T440 1 |
| Dysphagia 0.2480387663730798 0.0477755416248965 0.9618951292476284 1.0 1.0 104 P26640,P07814,Q05639,Q14203,P63241,P54886,P36507,Q69YQ0,Q14204,O75306,P29372,P21359,Q00610,Q9HA77,O75165,Q14683,Q9UEY8,P55011,Q01105,P12235,Q15149,O95169,Q04637 23 |
| Proximal muscle weakness in lower limbs 0.2057499573805187 0.0476301516234579 0.9620110017724072 1.0 1.0 15 P12235,Q14204 2 |
| Atrial arrhythmia 0.2502034174125321 0.0471655333067125 0.9623812973721768 1.0 1.0 8 P50402,Q14315,Q9BTV4,P12235,P02545,O75694,O95235 7 |
| Exercise intolerance 0.1989207017814104 0.0468723429645894 0.9626149709753556 1.0 1.0 23 Q9H2D1,P00558,P24928,P40939,Q9NSD9,P12235,Q9Y285 7 |
| Coxa vara 0.2374856918556181 0.046533719944024 0.9628848585577776 1.0 1.0 11 P61011,Q99575 2 |
| Abnormality of lower limb joint 0.2845770134679952 0.0464061560956416 0.9629865299461624 1.0 1.0 135 P27635,Q7Z2Z2,Q9NR45,P21333,P43034,Q93008,P63241,Q9NVI1,Q6NW34,Q5JTV8,P54886,O00203,P36507,Q14839,P15924,Q9Y4P3,Q9Y617,P21359,Q8NBU5,Q6ZXV5,Q14683,O60231,P46821,P55011,O00469 25 |
| Abnormal urine cytology 0.2142458500277645 0.0463390821195134 0.9630399897247406 1.0 1.0 33 P49257 1 |
| Severe intrauterine growth retardation 0.3987007714169804 0.0453547715329455 0.9638245309501638 1.0 1.0 3 Q92979,O14802 2 |
| Aminoaciduria 0.2051555734743378 0.0447764051508799 0.9642855321873444 1.0 1.0 27 P48506,P05165,O00469 3 |
| Large forehead 0.285513425947268 0.044341294081147 0.964632356110521 1.0 1.0 5 P21333 1 |
| Abnormality of the lower urinary tract 0.3235627887942395 0.0440737726901885 0.964845598824819 1.0 1.0 174 Q07864,P27635,Q9Y6X9,P21333,P51610,P51571,P35606,P53701,O00170,P61313,Q86W42,Q8IY37,P26358,Q93008,Q7Z6Z7,P08708,Q9NVI1,P78347,O60934,Q12830,P42766,O60488,P53992,P54886,P18077,Q14839,P42695,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q12756,Q9BZI7,Q9Y4P3,Q6PGP7,P26196,P29372,P10644,Q15046,P53597,Q07020,Q9H270,Q6Y7W6,P22314,O75787,O75165,Q06124,Q14683,P42345,Q96ST3,Q9Y4A5,Q5H8A4,Q96T58,P62899,A6NHR9,Q13620,P12235,Q15149,Q96GM5,Q7LBC6,Q9UQE7,Q04637 63 |
| Abnormality of the forehead 0.3755977775016637 0.0440363704689079 0.9648754125337156 1.0 1.0 244 P27635,O95319,Q9NR45,P61313,Q15003,P63241,Q03164,Q12830,O75369,P49588,Q15436,Q92979,P22681,Q9BZK7,P42695,Q92785,Q9UPY3,Q9Y4P3,P26196,O14646,P21359,Q00610,Q15392,O43776,O75787,P18583,P18074,P42345,Q9Y4A5,Q14738,Q96T58,P62899,P46821,Q07864,P26640,P78527,P43034,Q93008,Q7Z6Z7,Q9NVI1,Q6NW34,Q8N201,P54886,P18077,P36507,Q69YQ0,Q14204,Q9Y617,Q15021,P55263,Q14683,P55011,Q9NXE4,Q05639,P21333,P24928,P35606,Q86W42,P08708,O60934,P40763,P08243,P60866,P51532,Q9BZI7,Q6PGP7,P29372,Q07020,Q9H267,Q96ST3,Q96T60,P42704,P51659,A5YKK6,O00170,P38606,P78347,Q13428,P42766,P98175,Q9NSD9,Q9P2J5,Q08J23,P28482,Q06124,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7 90 |
| Hand polydactyly 0.1916377705816661 0.043909062703056 0.9649768912774096 1.0 1.0 21 P54132,Q5H8A4,P21333,P98175 4 |
| Periorbital edema 0.1940745349963865 0.0438751286877893 0.9650039406362104 1.0 1.0 22 Q9Y4P3,A6NHR9,O00170,P78347,O43707 5 |
| Abnormality of fontanelles 0.2158347379167306 0.0437069741305981 0.965137979978743 1.0 1.0 38 Q93009,P26640,P51659,Q15436,P54886,P21333,P98175,P38606,Q6NW34 9 |
| Abnormality of the dentition 0.3330802933329739 0.043227941256967 0.9655198319992327 1.0 1.0 185 P54132,P27635,O95319,Q7Z2Z2,Q05639,P19447,P21333,P24928,P51571,P51610,P61011,P53701,Q12797,A5YKK6,Q86W42,Q8IY37,O00170,Q93008,Q7Z6Z7,P38606,P78347,P62266,Q03164,Q12830,Q6NW34,Q13428,O75369,Q99575,O60488,P49588,P53992,Q15436,P40763,O00203,Q9BZK7,P51532,Q69YQ0,P15924,Q08J23,Q92785,Q9BZI7,Q9Y4P3,P26196,P28340,P10644,P26639,P21359,P28482,Q00610,Q9NW13,O43776,Q06124,P18583,P18074,Q14683,Q96ST3,Q5H8A4,Q96T58,A6NHR9,P55011,Q9UID3,Q01105,Q15149,Q13620,Q15042,Q96GM5,Q9UQE7 67 |
| Delayed social development 0.4845779220779183 0.0432032577264557 0.9655395082250102 1.0 1.0 2 O60508 1 |
| Petechiae 0.2417519398523547 0.0431292872577938 0.96559847315882 1.0 1.0 10 P10644,P40763 2 |
| Macular thickening 0.2728620744733139 0.0427834190731926 0.9658741815494144 1.0 1.0 6 Q6P2Q9 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.481331168831165 0.0415689600443752 0.966842318140078 1.0 1.0 2 P19367 1 |
| Vertebral compression fracture 0.2087388030695453 0.0395250770269971 0.9684717605585256 1.0 1.0 14 P61011,Q7Z2Z2,O00170 3 |
| Abnormal t wave 0.3881445391798663 0.0388183972423347 0.9690351770104226 1.0 1.0 3 P14923,P0DP25 2 |
| Aplasia hypoplasia of the earlobes 0.2684708104097256 0.0376531378585177 0.9699642400483316 1.0 1.0 6 P98175 1 |
| Lower limb metaphyseal irregularity 0.3860549831167585 0.0376334686013713 0.9699799227296706 1.0 1.0 3 P61011 1 |
| Abnormality of globe location 0.3595810747306827 0.0368767138684364 0.9705833067567158 1.0 1.0 223 O95602,P51571,P61313,Q8IY37,P63241,Q03164,Q12830,O75369,P53992,Q15436,Q8IWS0,P22681,Q9BZK7,Q92785,Q9UPY3,Q96C86,P26196,P28340,P21359,O43776,P18583,P18074,P42345,Q9Y4A5,Q14738,Q96T58,P62899,Q6KC79,P35573,Q15477,O14617,P78527,P43034,Q9HCK8,Q93008,Q7Z6Z7,Q9NVI1,Q8N201,P54886,P18077,P36507,Q69YQ0,Q9Y617,P55263,Q14683,A6NHR9,P55011,Q9UID3,Q15149,Q9NXE4,Q05639,P19447,P21333,P24928,Q86W42,P08708,O60701,P40763,Q14839,P60866,Q6PGP7,P29372,P10644,Q07020,Q96ST3,Q9NRZ9,Q01105,P42704,P55795,P51659,A5YKK6,P38606,Q13428,P42766,P98175,Q9NSD9,Q08J23,P26639,P46109,P28482,Q06124,Q5H8A4,Q15042,Q96GM5,Q9Y3E5 85 |
| Respiratory tract infection 0.2806849425375813 0.0361262688427948 0.9711816764879588 1.0 1.0 135 Q07864,P54132,O14617,Q7Z2Z2,P19447,P78527,P21333,P24928,P43034,Q93008,P14174,P78347,Q6NW34,O60934,Q9H0U3,P40763,O00203,P50851,P33991,P51532,Q92785,Q9Y4P3,P11586,P26639,P46109,Q86Y56,P53597,P28482,P00813,O43707,Q14683,P48506,Q9NRZ9,Q5H8A4,Q9UID3,Q15149 36 |
| Type 2 muscle fiber atrophy 0.2977254264825393 0.0357068048034677 0.9715161445652 1.0 1.0 4 Q06210,Q8TCS8,Q9NP81 3 |
| Abnormality of ocular smooth pursuit 0.1879355600946724 0.0355786030676941 0.9716183697965576 1.0 1.0 17 P43034,P35251,O15020,P13639 4 |
| Abnormal femoral head morphology 0.2139627977350578 0.0354719727712298 0.971703394794116 1.0 1.0 13 Q14807,Q7Z2Z2,Q99575 3 |
| Developmental regression 0.244967879046961 0.0354699981332655 0.971704969336412 1.0 1.0 105 P55795,P07814,Q5T440,Q05639,P19447,P51659,P49770,P43034,Q13144,Q5JPH6,P38606,P60866,O75306,Q9Y4P3,Q15046,Q00610,Q9HA77,P52701,Q14683,Q96ST3,Q96T60,O95169,Q9H9P8,P49327,Q7Z392,P35658,P42704 27 |
| Central adrenal insufficiency 0.2770840859865792 0.0351222819957498 0.9719822339083508 1.0 1.0 5 O00170 1 |
| Purpura 0.1872000529427496 0.0348708375983808 0.9721827346901932 1.0 1.0 17 P10644,P53992,O00170,P40763 4 |
| Sunken cheeks 0.4659090909090869 0.034726048332747 0.9722981898843716 1.0 1.0 2 P04350 1 |
| Extramedullary hematopoiesis 0.3777247109549475 0.0332482829694682 0.9734765951443554 1.0 1.0 3 P98175 1 |
| Metopic synostosis 0.3739342265529904 0.0314251780094913 0.9749304619164888 1.0 1.0 3 Q16531,P18583 2 |
| Hypertrichosis 0.2186928047792216 0.0308406127923694 0.97539665148783 1.0 1.0 86 Q9NXE4,P54132,Q9NR45,O00170,Q93008,P62266,Q03164,O60701,P51532,Q08J23,O75306,Q92785,Q69YN2,P28482,Q14683,A6NHR9,P46821,Q15042,Q13620,Q96GM5,O95169,Q9UQE7 22 |
| Delayed eruption of primary teeth 0.4549512987012947 0.0307115411033362 0.9754995870355574 1.0 1.0 2 Q13045 1 |
| Proptosis 0.208688074290908 0.0307031400003807 0.9755062869863262 1.0 1.0 42 Q9Y617,P21333,P21359,P22681,Q69YQ0,Q9NVI1 6 |
| Lower limb hypertonia 0.2349381479956196 0.0306508598792994 0.9755479808645502 1.0 1.0 9 P31040,P54886,P54136 3 |
| Lethal skeletal dysplasia 0.4545454545454505 0.0305752799133345 0.9756082567018136 1.0 1.0 2 Q14739 1 |
| Abnormal pelvis bone ossification 0.4545454545454505 0.0305752799133345 0.9756082567018136 1.0 1.0 2 Q14739 1 |
| Abnormality of the bladder 0.2261283804329056 0.0296212914746938 0.9763690846216976 1.0 1.0 92 Q9Y6X9,P21333,P51610,P35606,O00170,P26358,Q93008,Q9NVI1,O60934,P54886,Q14839,P42695,Q9BZI7,Q9Y4P3,O75165,Q14683,Q9Y4A5,P12235,Q15149,Q04637 20 |
| Ichthyosis 0.1981350153098405 0.0287133252624465 0.977093228727558 1.0 1.0 31 Q7Z2Z2,Q9H267,P19447,Q9Y617,P26639,P36507,P15924 7 |
| Abnormal eyebrow morphology 0.2742092253521827 0.0286347097902726 0.977155929017664 1.0 1.0 132 Q9NXE4,Q4G0J3,O60832,Q9NR45,O00170,Q7Z6Z7,P63241,P62266,Q03164,Q12830,Q6NW34,O60701,Q8N201,Q8IWS0,P98175,P36507,P51532,Q69YQ0,P15924,Q08J23,Q92785,P26196,O14646,P46109,P21359,Q69YN2,P28482,P00813,P18583,Q14683,Q96ST3,Q9Y4A5,Q5H8A4,Q96T58,A6NHR9,P46821,Q6KC79,P55011,Q13620,Q96GM5,P49327,Q9UQE7,P42704 43 |
| Ventriculomegaly 0.2924518142004665 0.028438962351351 0.9773120492954503 1.0 1.0 149 Q05639,P17480,P19447,P51659,Q9NR45,P24928,P35606,P43034,Q86W42,P26358,Q93008,Q7Z6Z7,P38606,Q9NVI1,Q93009,O60701,P08243,Q8TD16,Q92979,Q9BZK7,P42695,Q14839,P51532,Q69YQ0,Q92785,Q12756,Q14204,O75306,Q9Y617,P26639,P55265,Q86Y56,Q969M3,Q00610,Q15392,Q9BVA1,Q9H270,Q6ZXV5,O75787,P18583,P18074,P42345,Q14683,Q96ST3,Q96T60,Q14738,Q96T58,Q15042,Q01105,Q9UID3,Q13620,Q96GM5,O95169,Q9UQE7 54 |
| Absent epiphyses 0.3665045812845441 0.0281466183575876 0.9775452127134516 1.0 1.0 3 Q14807 1 |
| Corneal neovascularization 0.2867459965932208 0.02715150892598 0.9783388917023446 1.0 1.0 4 P53992 1 |
| Atrophy degeneration affecting the cerebrum 0.3224383978938528 0.0270244463087913 0.9784402358149116 1.0 1.0 181 P26640,O14617,O95319,P07814,Q5T440,Q05639,P17480,P19447,Q96N66,Q9NYY8,P51659,Q9Y6X9,Q9NR45,P43034,O96008,P26358,Q7Z6Z7,P38606,P78347,Q12830,P31930,P49588,P54886,P49591,Q8TD16,P05165,P36507,Q9NSD9,Q13813,Q69YQ0,Q9UN37,Q08J23,Q14204,Q12756,Q9NQT5,Q96C86,Q9Y4P3,P26196,P26639,P55265,P53597,Q8NBU5,P55263,Q00610,Q9H269,Q9HA77,Q96F86,Q6Y7W6,O75787,O75165,Q9NZ01,P18074,Q14683,Q96T60,P54136,Q9H9P8,Q9Y4A5,Q5H8A4,Q96T58,Q15042,P55011,Q01105,Q7Z392,Q9UQE7,P35658,Q04637 66 |
| Malignant hyperthermia 0.4423701298701257 0.0268683974044327 0.9785646996309104 1.0 1.0 2 P50570 1 |
| Bifid nasal tip 0.4419642857142816 0.0267569572337247 0.9786535840663984 1.0 1.0 2 P21281 1 |
| Global brain atrophy 0.1693241627293361 0.0259680532862374 0.9792828196381502 1.0 1.0 18 Q9H9P8,O75306 2 |
| Distal sensory impairment 0.196430875220842 0.0253923965049399 0.979741975864182 1.0 1.0 32 Q5T440,P49588,Q96T60,Q9Y6X9,Q15046,P48643,P43243,Q14204 8 |
| Vocal cord paresis 0.3585964680626095 0.0250605263350647 0.9800066857070228 1.0 1.0 3 P43243 1 |
| Cholestatic liver disease 0.2826298568447351 0.0243099387994558 0.9806053854593229 1.0 1.0 4 Q9H267 1 |
| Macular purpura 0.1945857137929786 0.0242406071979139 0.9806606877768368 1.0 1.0 14 P10644,O00170,P40763 3 |
| Abnormality of finger 0.3496626135972532 0.0236240172918794 0.981152514467012 1.0 1.0 218 P27635,P61011,Q06136,P61313,P62266,Q03164,Q12830,O75369,O60488,P53992,Q8IWS0,Q8TD16,Q92979,P22681,P50851,Q9BZK7,Q92785,Q12756,Q9Y4P3,P26196,O14646,Q69YN2,Q8NBU5,O43776,P18583,P18074,P42345,Q9Y4A5,Q96T58,P62899,P46821,Q8N5F7,P78527,P43034,Q93008,Q7Z6Z7,Q9NVI1,Q6NW34,P54886,P18077,Q15334,Q69YQ0,Q14683,P55011,Q9NXE4,Q7Z2Z2,P21333,Q13618,P08708,Q9Y4L1,Q14839,P60866,P51532,P15924,Q9BZI7,P10644,Q07020,Q96ST3,Q96T60,P54132,P55795,Q9Y6X9,P51610,A5YKK6,O00170,P78347,Q93009,P42766,P98175,Q9P2J5,Q08J23,P46109,P28482,Q14807,Q06124,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7,Q9Y3E5 81 |
| Progressive leukoencephalopathy 0.3540397888753602 0.0234588968763803 0.9812842249950048 1.0 1.0 3 P31040,Q9Y263 2 |
| Glomerulonephritis 0.1838824591642008 0.0233116445773992 0.981401683209168 1.0 1.0 15 P53621 1 |
| Abnormality of the external nose 0.3202487219523128 0.0226940750634392 0.9818943020344272 1.0 1.0 181 Q9NXE4,P55795,P27635,Q6P2Q9,P19447,P21333,P51610,P43034,Q12797,A5YKK6,Q86W42,Q8IY37,Q93008,P63241,Q7Z6Z7,P38606,Q03164,Q12830,O60934,O75369,Q8N201,O60488,P53992,Q15436,P54886,P98175,P36507,Q9BZK7,P51532,Q08J23,Q92785,Q12756,Q9BZI7,Q6PGP7,P29372,P28340,Q9Y617,P10644,P46109,P21359,P28482,Q92620,Q15392,Q06124,Q14683,Q96ST3,Q96T60,O43395,Q9Y4A5,Q15042,Q9UID3,P35573,Q15149,Q13620,Q96GM5,Q7LBC6,Q9UQE7,P42704 58 |
| Macular atrophy 0.2532520325203284 0.0223152503749938 0.9821964838716096 1.0 1.0 6 P19367,Q8WWY3,P54577,P04062,Q92620 5 |
| Scarring 0.1717197131985131 0.0219454697631726 0.9824914538709444 1.0 1.0 24 Q92620,Q15149,Q6P2Q9,P21333 4 |
| Pes valgus 0.2295166354988651 0.0216629275489045 0.982716836358348 1.0 1.0 8 Q5H8A4,P21333 2 |
| Abnormal esophagus physiology 0.3130409878396022 0.0208557983646221 0.9833606867416718 1.0 1.0 174 P54132,P26640,P55795,P27635,O95319,P07814,Q05639,P17480,P21333,P24928,P51571,P43243,Q93008,Q14203,P63241,P38606,P78347,Q6NW34,Q03164,Q93009,P12004,P49588,Q15436,P40763,P54886,O00203,Q7L0Y3,P36507,Q9NSD9,Q9UPN3,Q69YQ0,P15924,Q14204,O75306,Q9Y4P3,P29372,P21359,P53597,Q8NBU5,P28482,Q00610,Q9HA77,Q6ZXV5,O75165,Q14683,Q9UEY8,P46821,P55011,Q01105,Q15149,P12235,O95169,Q7Z392,Q9UQE7,P35658,P42704,Q04637 57 |
| Sensory axonal neuropathy 0.207968011388734 0.0206093501253923 0.9835572817295932 1.0 1.0 12 Q9Y6X9,P48643,O60231 3 |
| Calcification of the aorta 0.3422655298416596 0.0198672961887045 0.9841492338542126 1.0 1.0 3 Q9Y3Z3,P55265 2 |
| Abnormal hair quantity 0.3124934082160343 0.0198366539467261 0.9841736780087882 1.0 1.0 174 Q9NXE4,P54132,P27635,P19447,Q9NR45,P50747,P21333,Q06136,O00170,Q8IY37,Q93008,P63241,P38606,Q6NW34,P62266,O60934,O60701,Q13428,Q99575,Q15436,P54886,P22681,P36507,P51532,P15924,Q08J23,Q92785,O75306,Q6PGP7,P10644,P26639,P21359,Q69YN2,P28482,P00813,Q06124,Q14683,O95169,A6NHR9,P46821,Q15042,Q13620,Q15149,Q96GM5,P49327,P42704 46 |
| Abnormality of the lens 0.2972748395854512 0.0196785681435359 0.984299787613628 1.0 1.0 158 Q6P2Q9,P19447,Q9Y6X9,P21333,Q06136,P53701,P61313,Q12797,P26358,Q93008,P29401,P08708,P38606,Q9NVI1,P78347,Q13428,Q8N201,P42766,Q15436,P54886,P18077,P36507,P60866,Q9UN37,Q08J23,Q9Y4P3,Q9Y617,P26639,P51570,Q92620,P35579,Q07020,Q9BVA1,Q6ZXV5,Q15437,Q14683,O75533,O43395,P62899,A6NHR9,Q15042,P12235,O14979,P49327,Q7Z392 45 |
| Oval face 0.2749370403807965 0.0195004167941006 0.9844419045534636 1.0 1.0 4 Q9Y4L1 1 |
| Ankyloblepharon 0.3404259446295184 0.0193724788487221 0.984543964984966 1.0 1.0 3 P19447 1 |
| Abnormally lax or hyperextensible skin 0.1949597022726437 0.018472649456804 0.9852617964138228 1.0 1.0 36 O75787,Q06124,Q9Y4P3,P18583,P54886,P21333,P36507,Q9BZK7,P38606,P78347,Q6NW34 11 |
| Spastic tetraplegia 0.1900939878265379 0.0183847334046481 0.985331931363952 1.0 1.0 33 Q5T440,Q15046,P08243,O15121,Q14204 5 |
| Abnormality of body mass index 0.3944805194805155 0.0179973243364916 0.9856409879364852 1.0 1.0 2 Q8NI27 1 |
| Repetitive compulsive behavior 0.3879870129870096 0.0173161527517491 0.9861843995029942 1.0 1.0 2 Q01082 1 |
| Prolonged qtc interval 0.3879870129870086 0.0173161527517491 0.9861843995029942 1.0 1.0 2 P0DP25 1 |
| Abnormal rib ossification 0.3295970989659904 0.0167876222380015 0.9866060445302616 1.0 1.0 3 P61011 1 |
| Chest pain 0.1846867062853605 0.0163637462720142 0.9869442021585324 1.0 1.0 14 P21359 1 |
| Abnormal cardiac ventricle morphology 0.2872613027548722 0.0159794614682041 0.9872507769780948 1.0 1.0 150 P27635,Q8N5F7,P19447,P21333,P53701,O00170,P61313,Q86W42,P29401,P08708,Q9NVI1,P78347,P42766,P18077,Q7L0Y3,P36507,Q14839,P60866,P51532,Q69YQ0,Q92785,O75306,Q9Y4P3,Q6PGP7,P26639,P46109,P21359,P28482,Q07020,Q06124,P52701,Q9H267,Q14683,Q96T60,P62899,P55011,P35573,P12235,Q96GM5,Q7LBC6,Q7Z392 41 |
| Dilated fourth ventricle 0.1903326643339913 0.0158164634893937 0.9873808141145156 1.0 1.0 35 Q93008,Q9Y617,Q9UID3,Q92785 4 |
| Intrinsic hand muscle atrophy 0.3632305194805162 0.0154670552360214 0.9876595674612516 1.0 1.0 2 P55072 1 |
| Aplasia hypoplasia of the sacrum 0.339691558441555 0.0144992987950371 0.9884316386858474 1.0 1.0 2 P04066 1 |
| Reduced forced expiratory volume in one second 0.3262987012986977 0.0141717178216786 0.9886929836302734 1.0 1.0 2 Q96J02 1 |
| Aortic dissection 0.3214285714285678 0.0140813557050923 0.988765074974356 1.0 1.0 2 P31153 1 |
| Peripheral visual field loss 0.309253246753243 0.0139074231181764 0.9889038395112092 1.0 1.0 2 P31040 1 |
| Excessive wrinkling of palmar skin 0.3134388956557088 0.0138459474710973 0.9889528852584608 1.0 1.0 3 Q02809,Q9BZK7 2 |
| Increased c peptide level 0.2893668831168792 0.0137389927099094 0.9890382146944858 1.0 1.0 2 P40939 1 |
| Abnormal glomerular mesangium morphology 0.1599975577445999 0.0133128036888492 0.9893782332271956 1.0 1.0 16 P53621,P00813 2 |
| Scleroderma 0.2507110930516096 0.0130070296982369 0.9896221844473836 1.0 1.0 5 Q9Y2U8,P28340,P06132,Q14739 4 |
| Frontotemporal dementia 0.2201218570798087 0.0128632386444678 0.9897369035114024 1.0 1.0 8 Q14203 1 |
| Hip contracture 0.2200663084531871 0.0128159409280009 0.9897746385185976 1.0 1.0 8 P22314 1 |
| Chronic hepatic failure 0.2988225740966326 0.0119518303435514 0.9904640461252918 1.0 1.0 3 P40939,P55084 2 |
| Optic disc coloboma 0.2988225740966325 0.0119518303435514 0.9904640461252918 1.0 1.0 3 Q6KC79,P78318 2 |
| Exercise induced myoglobinuria 0.2601702482815158 0.0119473560363469 0.990467615851056 1.0 1.0 4 P00558 1 |
| Hyperkeratosis 0.1948367429420537 0.0117917346065072 0.9905917750406694 1.0 1.0 45 P19447,Q06136,P36507,Q15149,Q7Z392,P15924,Q15437 7 |
| Increased megakaryocyte count 0.2971985383678483 0.0117788627141251 0.9906020446116576 1.0 1.0 3 O75533,P04637 2 |
| Unusual infection 0.3020925933967567 0.01142599685224 0.990883571883701 1.0 1.0 168 Q07864,P54132,P27635,O14617,Q7Z2Z2,O15143,P19447,P78527,P21333,P24928,Q86W42,Q93008,P14174,Q9NVI1,Q6NW34,O60934,P78347,Q9H0U3,P40763,O00203,Q9Y4L1,Q9NSD9,P50851,P33991,P51532,Q9UN37,Q08J23,Q92785,Q9Y4P3,P11586,Q6PGP7,P10644,P26639,P46109,Q86Y56,P53597,P28482,P00813,Q96ST3,P48506,O75533,Q9H9P8,Q9NRZ9,Q5H8A4,Q9UID3,Q15149,P49327 47 |
| Urogenital fistula 0.2180634662327092 0.011146320993894 0.9911067067207592 1.0 1.0 8 Q8NCM8,Q13428,P36776,O15160,P16435,Q01968,Q16531 7 |
| Fulminant hepatic failure 0.2894843686561121 0.0110458708878203 0.9911868493756248 1.0 1.0 3 P40939,Q96RP9 2 |
| Kyphosis 0.2459147353429315 0.010722192518932 0.9914450920512556 1.0 1.0 115 P17480,P19447,P21333,O00170,Q7Z6Z7,P78347,Q6NW34,Q93009,Q12830,O75369,Q99575,P54886,Q8IWS0,Q8TD16,Q9BZI7,Q9Y4P3,P26196,P28340,P10644,P26639,P21359,Q8NBU5,Q9NW13,Q15437,P22314,Q14807,O43776,Q06124,P18583,P18074,Q14683,Q96ST3,Q96T60,Q5H8A4,Q15042,P55011,Q13620,O00469 38 |
| Abnormal bone structure 0.2725856158971107 0.0103858422365946 0.9917134458012756 1.0 1.0 139 Q07864,P27635,Q7Z2Z2,P19447,P51659,P21333,P35606,O00170,Q8IY37,Q93008,Q9NVI1,P78347,Q13428,P06737,Q15436,P40763,P54886,P22681,P05165,Q9NSD9,P42695,Q9Y4P3,P10644,Q9Y617,P26639,P21359,Q15392,Q15437,Q14807,Q14692,Q5H8A4,P12235,Q15149,O00469 34 |
| Abnormality of macular pigmentation 0.2801461632155946 0.0103326602228695 0.9917558766321604 1.0 1.0 3 Q9UM00,P55265 2 |
| Abnormal ossification involving the femoral head and neck 0.2513085550678106 0.0090139814357411 0.9928079807753484 1.0 1.0 3 O75369 1 |
| Mixed hypo and hyperpigmentation of the skin 0.2505075111652486 0.0089914476482236 0.992825959407916 1.0 1.0 3 P55265,P52788 2 |
| Vaginal fistula 0.2179747864985823 0.0089177547107124 0.9928847555076568 1.0 1.0 7 Q8NCM8,Q13428,P36776,O15160,P16435,Q16531 6 |
| Abnormality of the fetal cardiovascular system 0.2375152253349612 0.0086992746860344 0.993059070583166 1.0 1.0 3 P26196,P16435 2 |
| Hyporeflexia 0.2130887171829765 0.006782537369912 0.9945883596412906 1.0 1.0 90 O95319,Q5T440,Q05639,O60832,P19447,Q9NYY8,P51659,Q9Y6X9,P40939,P26358,P38606,P49588,Q8TD16,Q14204,Q12756,P23381,P35251,P26639,Q15046,Q92974,Q00610,O43776,O75787,P18074,Q96T60,Q5H8A4,Q7Z406,P12235,O14979,Q7Z392,Q9Y3E5 31 |
| Aplasia hypoplasia involving the skeleton 0.3482897008806236 0.0046117221810552 0.996320391116004 1.0 1.0 236 P27635,O95602,Q9NR45,P51571,P61313,P63241,Q03164,Q12830,O75369,O60488,P53992,Q8IWS0,Q8TD16,Q92979,P22681,Q9BZK7,Q92785,Q9Y4P3,P26196,P28340,P21359,Q15392,O75787,P18583,P18074,P42345,Q9Y4A5,Q9NWH9,Q96T58,P62899,Q07864,P26640,P53701,Q93008,Q7Z6Z7,Q9NVI1,Q6NW34,Q8N201,Q99575,P54886,P18077,Q69YQ0,Q14204,Q9Y617,Q14683,A6NHR9,P55011,P19447,P21333,Q13618,P08708,O60934,P08243,Q9Y4L1,Q14839,P60866,P51532,Q9BZI7,P10644,Q07020,P00813,P22314,P33992,Q9H267,Q96ST3,Q96T60,Q9NRZ9,P54132,P55795,P51659,P51610,P78347,Q93009,Q13428,P42766,P98175,Q08J23,P26639,P46109,P53597,P28482,Q14807,Q06124,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7 88 |
| Abnormality of the phalanges of the toes 0.2031861764232268 0.0045679787080274 0.99635529299013 1.0 1.0 10 Q12756,Q96T60,Q6DKJ4,Q9NVI1 4 |
| Abnormal nasal bridge morphology 0.3382828523579495 0.0044532867880129 0.9964468029713812 1.0 1.0 220 Q07864,P26640,Q9NXE4,P27635,O95602,Q6P2Q9,Q05639,P51659,P78527,P21333,P51610,P53701,A5YKK6,P61313,Q93008,Q7Z6Z7,P08708,P38606,P78347,P62266,Q03164,Q12830,Q6NW34,O60934,O75369,Q8N201,P42766,O60488,Q13428,Q15436,P40763,P18077,O00203,P98175,Q9Y4L1,P22681,P36507,P60866,P51532,Q69YQ0,Q08J23,Q92785,Q9UPY3,Q9BZI7,Q9Y4P3,Q6PGP7,P29372,P10644,Q9Y617,P46109,P21359,P28482,Q92620,Q15392,Q07020,Q06124,Q14683,Q96ST3,Q96T60,O43395,Q9Y4A5,Q9NRZ9,Q5H8A4,P62899,P55011,Q01105,P35573,Q15042,Q13620,Q96GM5,Q9UQE7,P42704 72 |
| Decreased muscle mass 0.1711871716447527 0.0035524444221097 0.9971655654041848 1.0 1.0 13 P04075,P51659,P38606,Q9Y285 4 |
| Esophageal neoplasm 0.23290763009348 0.0030565708955899 0.9975612130708555 1.0 1.0 5 P54132 1 |
| Abnormal palate morphology 0.3412807415573358 0.0027494599043323 0.9978062511557386 1.0 1.0 227 O95602,P61313,P63241,Q5JPH6,P62266,Q03164,Q12830,O75369,P53992,Q15436,P22681,Q9BZK7,Q12756,P26196,P21359,Q92974,Q8NBU5,Q00610,Q15392,Q15437,P18583,P18074,Q9Y4A5,Q14738,Q96T58,P62899,P46821,P43034,Q93008,Q7Z6Z7,Q9NVI1,Q8N201,P18077,P36507,Q69YQ0,Q9Y617,Q9NZ01,Q14683,A6NHR9,P55011,Q9UID3,Q9NXE4,Q7Z2Z2,Q5T440,P19447,P21333,P24928,Q86W42,Q13618,P08708,O60934,P40763,Q9Y4L1,P60866,P15924,Q9BZI7,Q6PGP7,P29372,Q07020,P22314,Q96ST3,Q96T60,Q01105,P55795,P51659,A5YKK6,P38606,Q13428,P42766,P98175,Q9NSD9,Q08J23,P26639,P46109,P28482,Q06124,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7 81 |
| Dystonia 0.2640288017366783 0.0021923608790135 0.998250750504206 1.0 1.0 136 O14617,P07814,Q05639,Q14203,Q5JPH6,O60701,P54886,P49591,P05165,Q9UN37,Q14204,O75306,Q96C86,Q15046,Q69YN2,Q00610,Q9HA77,Q96F86,O75165,Q9NZ01,Q14683,Q96T60,P55011,Q01105,O15121,O95169,Q7Z392,P42704,Q04637 29 |
| Abnormality of the outer ear 0.3631261700078574 0.0011757462105726 0.9990618904672988 1.0 1.0 274 P27635,O95602,Q9NR45,P51571,Q06136,P61011,P61313,Q8IY37,P63241,P62266,Q03164,Q12830,O75369,P53992,Q8IWS0,Q8TD16,P22681,Q9BZK7,Q92785,Q12756,Q96C86,Q9Y4P3,P26196,P55265,P21359,Q00610,Q15392,O43776,O75787,P18583,P18074,Q9Y4A5,Q14738,Q96T58,P62899,P46821,Q7LBC6,Q07864,P26640,O14617,Q8N5F7,P78527,P43034,P53701,Q93008,Q7Z6Z7,Q9NVI1,Q8N201,P54886,P18077,P36507,Q69YQ0,Q9Y617,Q14683,O60231,A6NHR9,P55011,Q9UID3,Q15149,Q9NXE4,Q7Z2Z2,Q05639,P19447,P21333,P08708,O60934,O60701,P08243,O00203,Q14839,P60866,P15924,Q9BZI7,Q6PGP7,Q07020,P22314,P33992,Q9H267,Q96ST3,Q9NRZ9,Q01105,P54132,P51659,A5YKK6,O00170,P38606,P78347,Q93009,Q13428,P42766,P98175,Q08J23,P26639,P46109,P28482,Q06124,Q5H8A4,Q15042,Q13620,Q96GM5,Q9UQE7 101 |
| Abnormality of facial skeleton 0.352235471217237 0.0007596110352021 0.9993939181410824 1.0 1.0 250 P27635,O95602,P51571,P61011,P61313,P63241,Q12830,O75369,O60488,P53992,Q9H0U3,Q15436,Q8TD16,Q92979,P22681,P50851,Q9BZK7,Q12756,Q9Y4P3,P26196,P21359,Q15392,O43776,Q9Y4A5,P62899,P35573,Q07864,P26640,O14617,P53701,Q7Z6Z7,Q9NVI1,Q6NW34,Q8N201,P18077,P36507,Q69YQ0,Q9Y617,Q86Y56,Q14683,A6NHR9,P55011,Q9NXE4,Q7Z2Z2,Q5T440,P19447,P21333,Q12797,Q86W42,P08708,O60934,P08243,Q9Y4L1,P60866,Q9BZI7,P10644,Q07020,P00813,P22314,P33992,Q9H267,Q96ST3,Q9NRZ9,P42704,P54132,P55795,P51659,A5YKK6,O00170,P38606,P78347,Q13428,P42766,P98175,Q08J23,P26639,P46109,P28482,Q14807,Q06124,Q5H8A4,Q15042,Q13620,Q9UQE7 84 |
| Abnormal jaw morphology 0.3335542914112214 0.0006000762094633 0.9995212084858988 1.0 1.0 218 Q07864,P26640,Q9NXE4,P27635,O14617,O95602,Q5T440,P54132,P55795,P19447,P51659,P21333,P51571,P53701,Q12797,P61313,O00170,Q86W42,P63241,Q7Z6Z7,P08708,Q9NVI1,Q6NW34,O60934,Q12830,P78347,P38606,O75369,Q8N201,Q13428,P42766,P53992,Q15436,P08243,P18077,P98175,Q8TD16,Q92979,P22681,Q9Y4L1,P60866,Q69YQ0,Q08J23,Q9BZI7,Q9Y4P3,P26196,P28340,Q9Y617,P10644,P26639,P21359,P28482,Q15392,Q07020,P22314,O43776,O75787,P33992,Q9H267,P18583,P18074,Q14683,Q96ST3,Q06124,Q9Y4A5,Q9NRZ9,Q5H8A4,Q96T58,P62899,P55011,Q15042,Q13620,Q9UQE7 73 |
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