| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Splenomegaly 0.5826638171552544 4.401985565291103 1.072646948596656e-05 0.0486446473062461 0.0498673566402631 95 Q15392,Q658P3,P04066,Q14739,Q13510,P10253,P16278,O00754,P15586,Q15904,P07602,O15118,P01889,P54802,Q9NZJ7,P61916,Q14108,P14174 18 |
| Abnormal circulating cholesterol concentration 0.7870836563454116 4.144573651457248 3.404465247247579e-05 0.1463860901296191 0.0791367946722723 33 Q15392,Q9UBM7,P42858,Q14739,Q15125,Q15904,P07602,P61916,P37268 9 |
| Abnormality of the vasculature of the eye 0.5916820601388285 3.882835355971801 0.0001032454792504 0.3812246603997801 0.1599960776784438 75 P02786,P10619,P04066,Q14739,O00462,P04439,P07686,Q13510,P17900,P06865,P07602,P01889,Q6P2Q9,Q8WYQ5,P06280,Q9NZJ7 16 |
| Mental deterioration 0.5079547971819823 3.777021345703152 0.0001587151337296 0.5218951495830954 0.18446666417731 100 O75503,P05067,P07602,P61916,Q14108,Q9NZJ7,O96008,P50897,P16278,P17900,P06865,P26358,P54802,O75165,Q709C8,Q9NPL8,O15118,P42858,P07686,Q13510,Q96F07,Q13501 22 |
| Abnormality of the spleen 0.5203786639734138 3.646386155487406 0.0002659542232825 0.7096260282230609 0.1851002992428767 133 Q15392,P04066,P15586,P07602,P61916,Q14108,Q9NZJ7,Q658P3,Q14739,P16278,O00754,Q15904,P54802,P10253,P10619,O15118,P01889,Q86V48,P07686,Q13510,P14174 21 |
| Intestinal malrotation 0.7315744390852461 3.5107854181521767 0.0004467848909919 0.8747654757565024 0.1851002992428767 28 Q15392,Q9UBM7,Q14739,Q8NCM8,Q12768 5 |
| Abnormal circulating lipid concentration 0.5378558175560065 3.446988422752443 0.0005668728735046 0.9283626890040904 0.1851002992428767 79 Q15392,Q9UBM7,O43933,Q9NZC9,Q14739,Q15125,Q15904,P07602,P06280,P61916,P11310,P37268 12 |
| Abnormal conjunctiva morphology 0.7121835112710297 3.43491004058929 0.0005927505650533 0.9364872382227888 0.1851002992428767 29 P02786,P10619,Q14739,P04066,O00462,P01889,P06280 7 |
| Abnormality of the upper respiratory tract 0.475544977291124 3.4003901234852703 0.0006728977334564 0.9562539759317894 0.1851002992428767 104 Q9UBM7,P41229,P04066,Q14739,Q13510,P16278,O00754,P15586,P13051,P27635,P07602,Q8NCM8,P01889,P54802,P60891,Q9NZJ7 16 |
| Clumsiness 0.769733628242363 3.3431021439599418 0.0008284739864106 0.9787876540282864 0.1851002992428767 22 O14773,O75503,P42858,Q13510,O00754,P07602,Q9NZJ7 7 |
| Hallucinations 0.5645323128304006 3.2863313777711327 0.0010150152440611 0.9910955339198312 0.1851002992428767 52 P19022,P21953,O75503,P50897,Q709C8,P42858,O00754,Q13501,P05067,P07602,Q9NZJ7,O96008 12 |
| Cardiomegaly 0.6378573369045657 3.2538493108153723 0.0011385265541374 0.9949885268006224 0.1851002992428767 35 Q14739,P04066,P11310,P54802,P13473,P10253 6 |
| Disproportionate short stature 0.6698588168798224 3.2036325774473946 0.0013570554250477 0.9981878392219936 0.1851002992428767 30 Q15392,Q9UBM7,P41229,Q9NZC9,Q14739,Q15125,P16278,P42345 8 |
| Abnormal tissue metabolite concentration 0.8157509889678222 3.1721993285622094 0.0015128912816357 0.9991227840416426 0.1851002992428767 15 O43933,Q658P3,P07686,P17900,P06865,P07602,P06280 7 |
| Loss of speech 0.7450951119888992 3.0943439733401723 0.0019724865335937 0.9998968313721064 0.1851002992428767 20 P50897,O00754,P17900,P07602,O15118,P61916,Q9NZJ7 7 |
| Abnormality of the cervical spine 0.453770255719457 3.08977476251973 0.00200308336054 0.9999105359516536 0.1851002992428767 108 Q07864,Q9UBM7,Q99575,P04066,Q15125,Q07020,P15586,Q92917,Q5SRE5,P61353,Q8TC12,P46777,P16278,O00754,P18077,P43034,P42766,P62899,P61313,P62847,Q9NXE4,Q9NZC9,Q12768,Q8IY37,Q2M1P5 25 |
| Abnormal retinal vascular morphology 0.5403721066451012 3.063138548145643 0.0021902862671889 0.9999625988316758 0.1851002992428767 51 P10619,P07686,Q13510,P04439,P17900,P06865,P07602,Q6P2Q9,Q8WYQ5,Q9NZJ7 10 |
| Abnormal retinal artery morphology 0.7381495049698752 3.0546818660280204 0.0022529936953885 0.9999720748979608 0.1851002992428767 20 P10619,P07686,Q13510,P17900,P06865,P07602,Q9NZJ7 7 |
| Epiphyseal stippling 0.862720808495566 3.0458748004379994 0.002320044198699 0.9999795681731072 0.1851002992428767 11 Q9UBM7,Q14739,Q15125 3 |
| Abnormal enchondral ossification 0.645887430986246 3.0399034873170128 0.0023665397149104 0.9999835483058164 0.1851002992428767 30 O43933,Q9UBM7,Q14739,Q15125,Q9NUQ7,Q8NCM8,Q96HA7 7 |
| Abnormal visual electrophysiology 0.5509638697499996 3.025901548726879 0.002478930038706 0.999990255949572 0.1851002992428767 48 O43933,O14773,O75503,P50897,P07602,Q6P2Q9,P60891,Q9NZJ7 8 |
| Duplication involving bones of the feet 0.7321062419151116 3.0200171625918673 0.0025276036227084 0.9999922336094118 0.1851002992428767 20 Q9UBM7,Q86V48,Q14739,Q15125 4 |
| Supranuclear gaze palsy 0.7317350134291916 3.0178830234258305 0.0025454714010588 0.99999285418419 0.1851002992428767 20 Q99720,P07602,O15118,P61916,Q9NZJ7 5 |
| Dementia 0.5245849499726999 3.0094070667385924 0.0026175814507845 0.9999948939827724 0.1851002992428767 61 Q709C8,P42858,Q13510,P17900,P05067,P06865,P07602,O15118,Q13501,P26358,Q9NZJ7,P61916,Q14108,O96008 14 |
| Cherry red spot of the macula 0.9370105507367478 3.0062170807067057 0.0026452008153359 0.999995510782104 0.1851002992428767 9 P10619,P07686,Q13510,P17900,P06865,P07602,Q9NZJ7 7 |
| Biliary tract abnormality 0.6448089223769486 2.9863403021763646 0.0028233826179735 0.9999980437290428 0.1851002992428767 29 O43933,Q14739,P07602,Q14108,P14174 5 |
| Duplication of hand bones 0.5247937290668798 2.9792538290014323 0.0028895130518911 0.999998562768063 0.1851002992428767 58 Q9UBM7,Q14739,Q15125,Q07020,P62899,P61313,P62847,P18077,Q8NCM8,P42766,Q12768,P61353 12 |
| Abnormal epiphyseal ossification 0.7471641727826227 2.972156532752801 0.0029571587425323 0.9999989515507774 0.1851002992428767 17 O43933,Q9UBM7,Q14739,Q15125,Q96HA7 5 |
| Increased bone mineral density 0.641853930851462 2.9661214816393637 0.0030158133944964 0.999999202433567 0.1851002992428767 29 Q15392,Q14739,Q15125,Q13501,P51798,P54802,Q14108,Q15043 8 |
| Abnormality of head blood vessel 0.703137503372086 2.9519567870751975 0.0031576711785195 0.999999588410582 0.1851002992428767 22 P10619,P07686,Q13510,P17900,P06865,P07602,Q9NZJ7 7 |
| Prolonged neonatal jaundice 0.7101923272130739 2.941886134405283 0.003262198539859 0.9999997472214758 0.1851002992428767 21 P60891,P61916,Q15904,O15118 4 |
| Recurrent respiratory infections 0.4608424390116994 2.941285719739442 0.0032685289523937 0.9999997545760302 0.1851002992428767 131 Q07864,Q9Y2Q5,P04066,P15586,Q9Y4I1,P07602,Q15833,P60891,Q9H2P0,P53634,Q9NZJ7,P41229,O00462,P16278,P13051,Q93008,P51798,P54802,P10253,O14617,P02786,Q9NPL8,P01889,Q96HA7,Q13510,P78527,Q12768,P14174 28 |
| Visual loss 0.5312254218520708 2.9358764043834285 0.0033260681515105 0.9999998123454968 0.1851002992428767 50 P48449,O14773,O75503,P50897,Q8TC12,P04439,Q12948,P07602,P01889,P51798,P60891,Q9NZJ7 12 |
| Abnormal biliary tract morphology 0.6671193693262595 2.921775113516089 0.0034804274345192 0.9999999086648554 0.1851002992428767 25 O43933,Q14739,P07602,Q14108,P14174 5 |
| Mucosal telangiectasiae 0.8295360691290619 2.890607832781308 0.003844975962377 0.9999999833315252 0.1851002992428767 11 P06280,Q14739,Q8IZA0 3 |
| Parkinsonism 0.6054701289184296 2.8512204797017255 0.0043551759124944 0.9999999984599198 0.1874407136257766 32 Q709C8,Q99720,Q13501,P05067,P07602,Q9NZJ7,O75165,O96008 8 |
| Abnormal exteroceptive sensation 0.5110376804090768 2.8491254065532785 0.0043839596568233 0.9999999986536038 0.1874407136257766 58 P41229,P07686,P05067,P07602,P01889,P54802,P06280,P60891 8 |
| Rhizomelia 0.7664085961655731 2.8300973898790076 0.0046533836951698 0.9999999996174156 0.1874407136257766 14 Q15392,Q9UBM7,Q14739,Q15125 4 |
| Abnormal shape of the frontal region 0.4402280670814393 2.823605731987175 0.0047486760208637 0.9999999997548568 0.1874407136257766 117 Q15392,P04066,Q15125,O14646,P15586,Q14739,P16278,O00754,Q8NCM8,Q00839,P51798,Q96HA7,O75970,P19022,Q86V48,O00170,Q6PGP7,P42345,Q9H9Y6,Q12768,Q2M1P5,O75962 22 |
| Abnormality of female external genitalia 0.5946832448643822 2.8230049853542547 0.004757583180865 0.9999999997648472 0.1874407136257766 33 Q15392,Q9UBM7,O43933 3 |
| Contractures of the joints of the upper limbs 0.4758168415797094 2.8170857233908317 0.0048461589158785 0.9999999998445288 0.1875664612058674 80 Q15392,P41229,O43933,Q99720,Q8IZA0,P42892,P37268 7 |
| Abnormality of the gingiva 0.5178764261395227 2.814889949985785 0.0048793939945062 0.9999999998668876 0.1875664612058674 50 Q15392,Q9UBM7,Q9H7D7,O00203,Q14739,P16278,Q13155,O00754,P49257,Q93008,P49815,Q2M1P5,Q9BUR4,Q14108,P53634 15 |
| Abnormality of the biliary system 0.4452412616383756 2.8147307567315107 0.0048818115306323 0.9999999998683824 0.1875664612058674 124 O43933,Q9UBM7,P41229,P04066,Q14739,Q13510,Q15904,P07602,O15118,P60891,P61916,Q14108,P14174 13 |
| Hand polydactyly 0.604723107909409 2.7972354280101452 0.0051541961048584 0.9999999999631374 0.1904353132664182 31 Q9UBM7,Q12768,Q14739,Q15125 4 |
| Limb ataxia 0.6665692032972492 2.7878673511903 0.0053056263332711 0.999999999981835 0.1904353132664182 23 P35251,O14773,O00754,Q8IV08,Q12768,Q14108 6 |
| Corneal opacity 0.5039046426627791 2.7809620990384585 0.0054198064263379 0.9999999999893472 0.1904353132664182 58 O43933,Q9UBM7,Q9NZC9,P10619,P04066,Q13510,O00754,P06280 8 |
| Arthritis 0.5351944971274925 2.7757212900508392 0.0055079402341926 0.9999999999929444 0.1904353132664182 45 P10321,Q14739,Q13510,Q9NUQ7,P01889,P51798,P06280,P60891,Q14108,P14174 10 |
| Retinal degeneration 0.5048060005700031 2.77228163712547 0.00556648523712 0.9999999999946336 0.1904353132664182 56 O14773,P50897,O75503,P42858,Q13510,P04439,O00754,Q96F07,Q6P2Q9 9 |
| Hydrops fetalis 0.5339224676133554 2.7647515642977063 0.005696616323783 0.9999999999970796 0.1904353132664182 45 P10619,Q14739,Q07020,Q13510,P16278,P62899,P61313,P18077,P62847,Q8NCM8,P42766,P61353 12 |
| Abnormal morphology of the conjunctival vasculature 0.8801529288755114 2.7631633088371244 0.0057244117223516 0.9999999999974356 0.1904353132664182 9 O00462,P04066,P06280 3 |
| Abnormal pharynx morphology 0.5600277640168694 2.746730869568654 0.0060192505083207 0.999999999999354 0.1904353132664182 37 P41229,Q13510,P16278,P15586,P13051,Q93008,P01889,P54802,Q15833,P60891 10 |
| Abnormality of the gallbladder 0.5460282413533202 2.739764619685254 0.0061483198858089 0.9999999999996468 0.1904353132664182 41 Q9UBM7,P41229,P04066,P07602 4 |
| Dysostosis multiplex 0.9066371791832892 2.7347809633385505 0.0062421797915013 0.9999999999997724 0.1904353132664182 8 P10619,P04066,O00754,P15586,P54802 5 |
| Incoordination 0.4845724871704167 2.731856459125301 0.0062978572633713 0.9999999999998246 0.1904353132664182 70 O14773,O75503,P42858,Q8TC12,Q13510,O00754,P27635,Q13501,P07602,O75165,Q9NZJ7 11 |
| Abnormality of glycolipid metabolism 0.9055331802768144 2.7301454209165104 0.0063306393416753 0.9999999999998496 0.1904353132664182 8 P07686,P17900,P06865,P07602,P06280 5 |
| Progressive visual loss 0.674386796405965 2.7275919518087166 0.0063798473505911 0.9999999999998804 0.1904353132664182 21 P60891,P50897,O14773,O75503 4 |
| Gait ataxia 0.4856764955088598 2.7145819648229215 0.006635947676739 0.999999999999964 0.1904353132664182 68 P35251,O14773,P42858,O00754,P27635,Q13501,P07602,O15118,Q8IV08,Q14108,Q9NZJ7 11 |
| Abnormal systemic arterial morphology 0.4594975837269077 2.6942367547208224 0.0070550031609899 0.9999999999999948 0.1955983843097848 155 Q9UBM7,Q9H7D7,Q07020,P05067,P07602,P61916,P61353,Q9NZJ7,Q9Y4A5,P46777,P16278,P18077,P17900,P06865,P42766,O75531,P10253,P10619,Q14839,P62899,P61313,P62847,Q6ZXV5,O15118,P01889,Q8WYQ5,Q9NZC9,Q86V48,P19022,P42858,P07686,Q13510 32 |
| Abnormal urine carbohydrate level 0.7545319491928957 2.6889296061527808 0.0071681533389018 0.999999999999997 0.1955983843097848 13 O00462,P10253,O00754,P04066 4 |
| Abnormality of the autonomic nervous system 0.4867959206349227 2.6871848887079204 0.0072057055196759 0.9999999999999974 0.1955983843097848 65 Q9UBM7,P35251,P07686,Q99996,P42892,P07602,P06280,Q9NZJ7 8 |
| Periventricular white matter hyperintensities 0.8278800629969751 2.686512873893432 0.0072202165735415 0.9999999999999976 0.1955983843097848 10 P07602,O75503,Q9NZJ7,P17900 4 |
| Metatarsus adductus 0.7218806144012344 2.6794844458810596 0.0073735628868916 0.9999999999999988 0.1958839649209093 15 Q15392,Q9UBM7 2 |
| Abnormal rib cage morphology 0.4698605050422732 2.6752779446412096 0.0074667318529946 0.9999999999999992 0.1972320249123409 76 O43933,Q9UBM7,Q86V48,Q99575,P04066,Q14739,P16278,O00754,P15586,Q8NCM8,Q12768,P51798,Q92917,P54802 14 |
| Neck muscle weakness 0.719234332944832 2.6651566054460853 0.0076952477845504 0.9999999999999998 0.1996913942135573 15 P60891,P07602,Q99720 3 |
| Muscle stiffness 0.6773568518219667 2.656175808313995 0.0079032400033678 1.0 0.1996913942135573 19 Q15392,Q9Y4I1,Q9NZJ7,P07602 4 |
| Abnormal vertebral morphology 0.4196975864500024 2.63440384925867 0.0084285171899123 1.0 0.2000129744029807 110 Q9UBM7,Q99575,P04066,Q15125,P15586,Q14108,Q14739,P16278,O00754,Q9NUQ7,Q8NCM8,P51798,P54802,P10619,Q8IWS0,Q96HA7,Q9NZC9,O00170,Q12768,Q8IY37 20 |
| Disproportionate short limb short stature 0.6417801015029599 2.631322119761342 0.0085053378404003 1.0 0.2000129744029807 23 Q15392,Q9UBM7,Q14739,Q15125,P42345 5 |
| Increased head circumference 0.4380095881557475 2.6307396094375797 0.0085199286803969 1.0 0.2000129744029807 133 Q15392,Q07864,Q99575,O14802,O14646,Q9HCK8,P07602,P53007,Q9NZJ7,P41229,Q14739,O00754,Q8NCM8,Q93008,O43505,P51798,Q14118,Q8IWS0,Q14839,Q7Z6Z7,Q8IYB7,Q8WVX9,Q9BU61,Q9NR50,Q96HA7,P11310,P11166,O43933,P19022,O75970,P42858,O75962,P07686,P42345,P49770,P10412,Q12768,Q2M1P5,Q96HP0 39 |
| Oligosacchariduria 0.9388246254473446 2.6157034374692896 0.0089043858962447 1.0 0.2000129744029807 6 O00462,P10253,O00754,P04066 4 |
| Cerebral inclusion bodies 0.7100793111647431 2.6153969910185912 0.0089123799680006 1.0 0.2000129744029807 15 Q709C8,P05067,O15118,P61916,O96008 5 |
| Disinhibition 0.4879577626115087 2.610864890428239 0.0090313566823596 1.0 0.2000129744029807 56 Q9NZ01,Q709C8,P19022,P42858,Q04637,P17480,Q6P1N0,Q96N66,Q9NUQ7,Q96F07,P05067,Q13501,P49815,Q9ULK4,Q2M389,P26358,O75165,O96008 18 |
| Nonimmune hydrops fetalis 0.5903413614795407 2.6058807459269007 0.009163836104435 1.0 0.2000129744029807 29 P10619,Q14739,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 9 |
| Polyneuropathy 0.6754297743345974 2.605114009989454 0.0091843693017634 1.0 0.2000129744029807 18 P60891,P07602,Q9NZJ7,P04066 4 |
| Aggressive behavior 0.4385398430379943 2.602942145012719 0.0092427549542506 1.0 0.2000129744029807 89 Q9UBM7,P41229,O75503,Q15125,O00462,P54802,Q8WYQ5 7 |
| Cupped ear 0.707609476600639 2.601921860239199 0.0092702971657279 1.0 0.2000129744029807 15 Q15392,P42892 2 |
| Agitation 0.5630638424709763 2.5855225339685552 0.0097231516917775 1.0 0.2000129744029807 33 P48449,Q709C8,P42858,Q13501,P05067,P42892,O75165,O96008 8 |
| Abnormal autonomic nervous system physiology 0.538415146797902 2.5734326518395476 0.0100695242477335 1.0 0.2039030623445692 37 P35251,P07686,Q99996,P42892,P07602,P06280,Q9NZJ7 7 |
| Neuronal loss in central nervous system 0.7625055139922576 2.567507666233739 0.0102432524403859 1.0 0.2039030623445692 11 P07602,O15118,P42858,Q9NZJ7 4 |
| Abnormality of bone mineral density 0.4343508483506506 2.563395915948759 0.010365377452544 1.0 0.2039030623445692 135 Q15392,Q15125,P07602,Q9H490,P06280,Q14108,Q9NZJ7,Q14739,P16278,O00754,Q9NUQ7,Q93008,P51798,P54802,O75531,Q9HC21,Q15043,P27635,Q96HA7,Q14692,Q9NZC9,O00170,Q13510,Q13501,Q9H9Y6,Q8IY37 26 |
| Abnormal oral mucosa morphology 0.4707575930504709 2.561463805542308 0.0104232101477546 1.0 0.2039030623445692 68 Q15392,Q9UBM7,Q9H7D7,Q14739,Q13155,P16278,O00754,Q93008,P78527,P01889,Q14108,P53634 12 |
| Abnormal form of the vertebral bodies 0.441221064538528 2.56097044441555 0.0104380235679168 1.0 0.2039030623445692 86 Q9UBM7,Q9NZC9,Q99575,Q14739,P04066,Q15125,P16278,O00754,P15586,Q9NUQ7,Q12768,Q8IY37,P54802,P51798,Q96HA7 15 |
| Postaxial polydactyly 0.666852915210898 2.5549070960522693 0.0106216143414676 1.0 0.2039030623445692 18 Q9UBM7,Q14739,Q15125,Q8NCM8,Q93008 5 |
| Joint contracture of the hand 0.4811149616344821 2.552028704243987 0.0107097694986475 1.0 0.2039030623445692 57 Q15392,O43933,P41229,Q8IZA0,P42892 5 |
| Progressive gait ataxia 0.7589523625146661 2.5500164471577818 0.0107717837230902 1.0 0.2039030623445692 11 P07602,O14773 2 |
| Diarrhea 0.4626546357507392 2.5479736236480677 0.0108350662947029 1.0 0.2039030623445692 73 P02786,P07686,P15586,P42892,Q15904,P01889,P54802,P06280,P11310 9 |
| Coarctation of aorta 0.5224909847910872 2.54285243723038 0.0109951652829396 1.0 0.2039030623445692 41 Q9UBM7,P19022,Q9Y4A5,Q07020,Q14839,P62899,P61313,P62847,P18077,P42766,P61353 11 |
| Memory impairment 0.5191139885171193 2.5424102697802753 0.0110090864466136 1.0 0.2039030623445692 42 P42858,P15289,Q13501,P05067,Q8WVX9,P07602,P49770,P40692,P01889,P26358,Q9NZJ7,Q9NR50,Q14232,O96008,P52701 15 |
| Rigidity 0.4828144263666179 2.5412918441535695 0.0110443687959123 1.0 0.2039030623445692 53 Q15392,Q709C8,P42858,P17480,P04350,P16278,P15289,Q96F07,Q9Y4I1,P07602,O75165,Q9NZJ7 12 |
| Arteriosclerosis 0.6706406029385011 2.54082143735556 0.0110592384443817 1.0 0.2039030623445692 17 Q9NZC9,Q13510,P16278,O15118,P61916 5 |
| X linked recessive inheritance 0.4802253044361242 2.5358985509712197 0.0112159220803458 1.0 0.2039030623445692 56 P60891,P41229,P06280,Q15125 4 |
| Reduced consciousness confusion 0.4301846908565602 2.529424097727031 0.0114249882606713 1.0 0.2048645174454104 133 Q9UBM7,Q07020,P05067,P07602,Q13423,Q15833,P60891,P61353,Q9NZJ7,O96008,P21953,P46777,O00754,P18077,P15289,Q96RQ3,P42766,P26358,Q9Y3D3,Q86Y39,Q9HC21,P80404,P62899,P61313,P62847,Q9NPL8,P01889,Q9BU61,Q9NR50,P11310,P11166,P42858,P35610 33 |
| Abnormality of visual evoked potentials 0.6417991957792474 2.5277047934549546 0.0114810843010706 1.0 0.2048645174454104 21 P60891,P07602,O75503,Q9NZJ7 4 |
| Abnormal pupillary function 0.8577861960533268 2.5270863974358786 0.0115013205104865 1.0 0.2048645174454104 8 P60891,P07602 2 |
| Abnormal erythrocyte enzyme level 0.6411590117943692 2.5237306961992965 0.011611684405931 1.0 0.2060409190960824 21 Q07020,P62899,P61313,P62847,P18077,P42766,P60891,P61353 8 |
| Progressive neurologic deterioration 0.6405082912348694 2.519689306118793 0.0117458460833397 1.0 0.2076290435035984 21 P07686,Q9NPL8,P07602,P54802,Q9NZJ7 5 |
| Facial hypotonia 0.7362464121400683 2.51374586893891 0.0119456478453643 1.0 0.2077364486983905 12 P41229,O00754 2 |
| Polydactyly 0.5010571850451487 2.510039595275484 0.0120717624917212 1.0 0.2083374949061751 46 Q9UBM7,Q86V48,Q14739,Q15125,Q8NCM8,Q93008,Q12768,Q2M1P5 8 |
| Ambiguous genitalia 0.6388249089040673 2.50922560672394 0.0120996179016277 1.0 0.2083374949061751 21 Q15392,Q9UBM7,Q8NCM8,Q14839 4 |
| Partial agenesis of the corpus callosum 0.7037674980930027 2.4998781544942177 0.0124236027914632 1.0 0.2131266766697886 14 Q15392 1 |
| Abnormal metatarsal morphology 0.588094636088599 2.4962007645379467 0.0125531531348856 1.0 0.2145573857503074 27 Q15392,Q9UBM7,Q9H7D7,O43933 4 |
| Abnormality of the pharynx 0.4902247703941724 2.4823123754541023 0.0130532789647954 1.0 0.2217357273222401 48 P41229,Q13510,P16278,P15586,P01889,P54802,P60891 7 |
| Renal agenesis 0.4714986260742518 2.481896342093343 0.0130685285623346 1.0 0.2217357273222401 60 Q15392,Q9UBM7,P46777,Q07020,P62899,P61313,P62847,P18077,P42766,Q2M1P5,Q9BU61,P61353 12 |
| Hypopigmented skin patches 0.5726107232054621 2.4783895791566057 0.0131976954646957 1.0 0.2231130407831653 29 Q8IZA0,Q15125,P42345,P07602,Q9NZJ7 5 |
| Abnormal lung lobation 0.6982650754015947 2.4702358393877932 0.0135024001654195 1.0 0.2268211256574119 14 Q9UBM7 1 |
| Prominent forehead 0.4371464551468998 2.4687867237797825 0.0135571993236101 1.0 0.2268211256574119 84 Q15392,P19022,Q9Y4A5,P42858,Q14204,Q14739,P04066,Q6PGP7,O00754,P15586,P42345,Q12948,P78527,Q93008,Q2M1P5,Q96HA7 16 |
| Abnormal tongue morphology 0.4459810732704004 2.4686229289595456 0.0135634056641773 1.0 0.2268211256574119 79 O43933,Q9UBM7,P41229,O00170,Q99575,P04066,P07686,P16278,P42356,O00754,Q9H9Y6,Q8NCM8,P01889,P67870,Q2M1P5,P10253 16 |
| Polymicrogyria 0.4406975147823442 2.447483162574538 0.0143857846552011 1.0 0.2388554030786787 81 Q15392,O43933,Q9NZ01,Q9Y4A5,Q14204,P42356,Q96N66,Q9NUQ7,P42345,Q6ZXV5,Q9ULK4,Q2M389,P67870,Q8IY37,Q96HP0,Q14118,P37268 17 |
| Ovoid vertebral bodies 0.8078807940230899 2.443193920407753 0.014557912505877 1.0 0.2399990611341214 9 Q9NZC9,P16278,P15586,P54802 4 |
| Abnormal blood transition element cation concentration 0.7214945410275756 2.438388911082947 0.0147528923736235 1.0 0.2423540517490312 12 Q15904,Q658P3,P28288 3 |
| Limb hypertonia 0.5099588069622307 2.4363086192451093 0.0148380188839039 1.0 0.2428941894058776 41 P41229,Q2TAA5,Q14739,Q15125,P42356,Q96F07,P60891 7 |
| Overlapping toe 0.63097125520973 2.4174777630255546 0.015628488882228 1.0 0.2488248110050617 20 Q9UBM7 1 |
| Opisthotonus 0.5759137668422932 2.4105905418133964 0.0159267176053319 1.0 0.2510151805011389 27 Q2TAA5,Q99720,P11117,P07602,Q9NZJ7,P51970 6 |
| Sepsis 0.6473556165189034 2.4050327779870875 0.0161710152761216 1.0 0.2519149187397775 17 P42892,P02786 2 |
| Asymmetric growth 0.7145416204829443 2.4026352247342206 0.0162774151995375 1.0 0.2519149187397775 12 Q93008,Q86V48,Q15125 3 |
| Hyperintensity of cerebral white matter on mri 0.6217551901364236 2.4024009317290553 0.0162878457035484 1.0 0.2519149187397775 21 O75503,P15289,P27635,P17900,P07602,P10253,Q9NZJ7,Q15043 8 |
| Absent septum pellucidum 0.5174173299501974 2.401897940586602 0.0163102582363245 1.0 0.2519149187397775 37 Q15392,Q9NZ01,Q6P1N0,Q96N66,Q9NUQ7,Q9ULK4,Q2M389,Q14118 8 |
| Emg neuropathic changes 0.5964757970152221 2.3943367467542265 0.0166504539018277 1.0 0.2529499600611574 24 P60891,P07602,O14773,Q13510 4 |
| Cleft soft palate 0.4609920766634722 2.39425113942076 0.0166543409803645 1.0 0.2529499600611574 62 Q15392,P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q93008,P62266,P42766,P61353,Q9HC21,Q14118 14 |
| Poor motor coordination 0.6839806752499505 2.3927969052363105 0.016720493643491 1.0 0.2529499600611574 14 O75503,P42858 2 |
| Hydrocephalus 0.4286275985278006 2.391451414808564 0.0167819049437145 1.0 0.2529499600611574 85 Q15392,Q9UBM7,O75970,Q15125,O00754,Q00839,Q9H490,Q12768,P51798,Q96HP0,Q14118 11 |
| Myoclonus 0.4009446566621576 2.3912810806397475 0.0167896934928399 1.0 0.2529499600611574 98 O14773,O75503,P50897,P42858,Q13510,Q96F07,P05067,Q9NPL8,P07602,P67870,Q14108 11 |
| Heterogeneous 0.4802761896249952 2.390300295872157 0.0168346017560336 1.0 0.2529499600611574 48 O43933,O43542,Q9NWH9,P05067,Q96RQ3,Q12948,P01889,P51798,Q2M1P5,P11717,P61916,P53634 12 |
| Abnormal lower motor neuron morphology 0.825368314734413 2.38630687807768 0.0170185432049523 1.0 0.2529499600611574 8 Q13510,Q99720 2 |
| Decreased circulating antibody level 0.4937559616923094 2.380671673025786 0.0172811067403808 1.0 0.255047191225494 44 P19447,P02786,P54132,Q9Y2Q5,Q6PGP7,O00754,P13051,P49327,P26038,Q15904,P40763,P42345,Q15833,Q96HA7,P18583,P14174 16 |
| Abnormality of extrapyramidal motor function 0.4363519976960507 2.379041224193903 0.0173577346540683 1.0 0.2553674316669734 80 Q709C8,P42858,Q99720,P07686,P16278,O75165,P16455,P17900,P06865,P05067,P07602,P08243,Q13501,O96008,Q9NZJ7 15 |
| Infantile axial hypotonia 0.6948428208069619 2.37757035307148 0.0174271182146008 1.0 0.2555794087687046 13 O00754,P17900,P07602,Q9NZJ7,Q15043 5 |
| Bilateral talipes equinovarus 0.8526028019005583 2.374016909748648 0.0175957446393684 1.0 0.2572409334227162 7 Q15392,Q15125 2 |
| Cognitive impairment 0.448425898565341 2.371275905685883 0.0177267927073532 1.0 0.2576969582753794 175 O75503,P05067,P07602,P06280,P61916,P13473,Q14108,Q9NZJ7,P50897,Q99720,P16278,P17900,P06865,P26358,P54802,O75352,Q9NPL8,O15118,P01889,O43933,P42858,P07686,Q13510,Q96F07,P42345 25 |
| Ulnar deviation of the hand or of fingers of the hand 0.6657988641221817 2.3704815502071 0.0177649305435301 1.0 0.2576969582753794 15 Q9UBM7,Q14739 2 |
| Osteoarthritis 0.7213951749187065 2.3628364267920627 0.0181356722940471 1.0 0.2585527726926145 11 Q14108,P51798,P01889,Q9NUQ7 4 |
| Asymmetric septal hypertrophy 0.9842496285289748 2.362610695451464 0.0181467211056802 1.0 0.2585527726926145 2 P15586 1 |
| Reticulocytopenia 0.5992548699258068 2.3559597193505253 0.0184749209235053 1.0 0.2585527726926145 23 Q658P3,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Status epilepticus 0.4633884423623994 2.3532734257313455 0.0186089448175217 1.0 0.2585527726926145 53 O76075,Q15392,Q9NZC9,Q13510,Q96F07,P42892,P07602,P67870,Q9NZJ7 9 |
| Tracheal stenosis 0.8172271155160442 2.3505781740208964 0.0187442698337969 1.0 0.2585527726926145 8 Q9UBM7 1 |
| Aganglionic megacolon 0.6063046981101952 2.3486777357127813 0.018840205074857 1.0 0.2585527726926145 22 Q9UBM7 1 |
| Delusions 0.6058645392092785 2.345836807622926 0.0189844175716695 1.0 0.2585527726926145 22 Q9NR50,P42858,P15289,O00754,P07602,Q8WYQ5,Q9NZJ7 7 |
| Abnormality of the tongue 0.3918875272131532 2.335757971947869 0.0195038591896294 1.0 0.2628215691959058 100 O43933,Q9UBM7,P41229,O00170,Q99575,P04066,P07686,Q13510,P16278,P42356,O00754,Q9H9Y6,Q8NCM8,P01889,P67870,Q2M1P5,P10253 17 |
| Progressive spastic quadriplegia 0.7839172864882586 2.334286404730775 0.0195807301352624 1.0 0.2630948393029911 9 P07602,P15289,Q9NZJ7,P17900 4 |
| Abnormality of the lymphatic system 0.4398644568241024 2.330567191863209 0.0197761931447864 1.0 0.2649553946112737 167 Q15392,P04066,P15586,P07602,P61916,Q14108,Q9NZJ7,Q658P3,Q14739,P16278,O00754,P13051,Q15904,P54802,P10253,P10619,O15118,P01889,Q86V48,P07686,Q13510,P14174 22 |
| Hypocholesterolemia 0.8118811994486069 2.327034941346272 0.0199634056250637 1.0 0.2666950366405781 8 Q9UBM7,P07602,P37268 3 |
| Progressive psychomotor deterioration 0.781641264429155 2.3238686939065656 0.0201325326066577 1.0 0.2681837939494317 9 P07602,Q9NZJ7,P07686 3 |
| Urinary glycosaminoglycan excretion 0.8663522091437289 2.3214245008037135 0.0202639444798784 1.0 0.2686631308758702 6 P54802,P15586,P04066 3 |
| Abnormal leukocyte physiology 0.4497334568339579 2.318802236108912 0.0204057619051183 1.0 0.2686631308758702 66 Q9NZC9,P02786,Q9Y2Q5,Q6PGP7,O00754,P13051,P42345,Q15904,Q8WYQ5,Q15833,Q96HA7,Q14108,P14174 13 |
| Postaxial foot polydactyly 0.8656134157717661 2.3183718123811867 0.0204291226238109 1.0 0.2686631308758702 6 Q9UBM7,Q8NCM8,Q14739 3 |
| Abnormal soft palate morphology 0.4385882489190755 2.318249344367072 0.0204357736859881 1.0 0.2686631308758702 75 Q15392,P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q93008,P62266,P42766,Q8WYQ5,P61353,Q9HC21,Q14118 15 |
| Vascular skin abnormality 0.4028497783614915 2.315729502681723 0.0205730425020025 1.0 0.2686631308758702 119 Q9UBM7,Q86V48,P10619,P04066,Q15125,Q14739,Q8IZA0,O00462,P01889,P06280,Q07954,Q14108 12 |
| Postaxial hand polydactyly 0.7470709530257198 2.3074141421522816 0.0210317435862052 1.0 0.2687565847113828 10 Q9UBM7,Q8NCM8,Q14739 3 |
| Flat face 0.5917086543550919 2.3061816457712117 0.0211004847106162 1.0 0.2687565847113828 23 O00754,Q15125 2 |
| Hypopigmentation of the skin 0.4560386867864506 2.2862927124009813 0.022237139941212 1.0 0.2751351474413113 54 O14617,O00203,Q9Y2Q5,Q15125,Q8IZA0,Q6PGP7,P42345,Q9Y4I1,P07602,P40692,P51798,P53634,Q9NZJ7 13 |
| Renal hypoplasia aplasia 0.3996491972737515 2.2860339475645692 0.0222522726259266 1.0 0.2751351474413113 95 Q15392,Q9UBM7,Q9Y4A5,P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q8NCM8,Q96I36,P42766,Q2M1P5,Q92917,Q9BU61,P61353 17 |
| Chronic diarrhea 0.6248019721104475 2.271436370247532 0.0231205747873957 1.0 0.2851128705214924 17 Q15904,P02786,P07686 3 |
| Abnormality of the 5th toe 0.8281961666171785 2.2701576053508026 0.023198022220005 1.0 0.2853111251344001 7 Q9UBM7,Q8NCM8,Q2M1P5,Q14739 4 |
| Short thumb 0.4873927826344904 2.2674919797408686 0.0233601882951219 1.0 0.2857934615369003 42 Q9UBM7,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Frontotemporal dementia 0.7368009572828123 2.2579747985654803 0.023947230660434 1.0 0.291441558482612 10 Q13501,P05067 2 |
| Decreased circulating iga level 0.7937257619010527 2.246593614040793 0.0246660106717058 1.0 0.2981684636891316 8 Q15904,P42345 2 |
| Abnormal macrophage morphology 0.8477383758960887 2.2441873378291444 0.0248203503873889 1.0 0.2989373288885265 6 Q13510,P16278,O15118,P61916 4 |
| Gray matter heterotopia 0.5129550611920463 2.2425408111655276 0.0249264407505196 1.0 0.2994393360443561 34 O75970,Q9UBM7,P19022,O60231,Q2TAA5,O43933,O14578,P43034,P40692,Q6ZXV5,O43505 11 |
| Positional foot deformity 0.3838952144188755 2.238633242493764 0.0251797894324037 1.0 0.3001814002019978 103 Q15392,Q9UBM7,P41229,O43933,Q15125,P42356,O00754,P10412,Q8NCM8,Q8WYQ5 10 |
| Glaucoma 0.395939319378385 2.2386005258992174 0.0251819199997374 1.0 0.3001814002019978 95 O43933,Q9UBM7,P46777,Q15125,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q12948,Q12768,Q6P2Q9,P42766,P60891,P61353,Q14118 17 |
| Micromelia 0.5883023183980949 2.2317407304593675 0.025632103606568 1.0 0.3047663674346165 22 Q15392,Q9UBM7,Q14739 3 |
| Hyperesthesia 0.9536404160475488 2.2283917158782818 0.025854405035953 1.0 0.3047857176545392 2 P07602 1 |
| Bilateral tonic clonic seizure with focal onset 0.9536404160475488 2.2283917158782818 0.025854405035953 1.0 0.3047857176545392 2 P07602 1 |
| Gastrostomy tube feeding in infancy 0.4985521273921174 2.225093007380224 0.0260749950803527 1.0 0.3048291977204184 36 Q9H7D7,Q9BSV6,Q9H2P0,Q99720,Q14204,O75962,Q9H490,P67870,P60891,P37268 10 |
| Abnormality of the septum pellucidum 0.4659981370895428 2.2228756773768916 0.0262241842846666 1.0 0.3055544680185847 47 Q15392,Q9NZ01,Q6P1N0,Q96N66,Q9NUQ7,Q8ND04,P43034,O43505,Q2M389,Q9ULK4,Q2M1P5,Q9BZH6,Q14118 13 |
| Erythroderma 0.7583494840904951 2.216521173449557 0.0266558294287848 1.0 0.3069425746183798 9 P48449,O75352,Q15125 3 |
| Limb undergrowth 0.4484178689975912 2.2159700626307126 0.026693552515592 1.0 0.3069425746183798 55 Q15392,Q9UBM7,Q14739,Q15125,P42345 5 |
| Skeletal dysplasia 0.4749619096941391 2.2123811103023523 0.0269403429632091 1.0 0.3081265780989195 44 O43933,Q9NZC9,Q99575,Q14739,P10619,P16278,P27635,Q9NUQ7,Q9H9Y6,Q8NCM8,Q2M1P5,O00443,Q96HA7 13 |
| Cutaneous photosensitivity 0.5691813979030951 2.2099569955950185 0.0271081470211347 1.0 0.3081265780989195 24 Q9UBM7,Q14108 2 |
| Abnormality of corneal stroma 0.6143798459944996 2.209009304022061 0.0271739937665211 1.0 0.3081265780989195 17 O43933,Q9NZC9,P10619,Q13510,P16278,Q12948,Q16625 7 |
| Exaggerated startle response 0.7557372517273389 2.2043981334817597 0.0274963568315373 1.0 0.310538942897667 9 P16278,P06865,P17900,P07686 4 |
| Abnormal pelvis bone ossification 0.9476968796433878 2.2021611055562205 0.0276539303849503 1.0 0.310538942897667 2 Q14739 1 |
| Lethal skeletal dysplasia 0.9476968796433878 2.2021611055562205 0.0276539303849503 1.0 0.310538942897667 2 Q14739 1 |
| Cholestasis 0.4205120394904792 2.198213190826535 0.0279339171124002 1.0 0.3129271823025269 80 O43933,Q9UBM7,Q14739,Q15904,O15118,P60891,P61916 7 |
| Restlessness 0.4849152918413613 2.1953865769476466 0.0281358791649579 1.0 0.3144319765333884 40 P48449,P41229,Q709C8,P42858,Q13501,P05067,P42892,O75165,O96008 9 |
| Abnormality of upper limb joint 0.3937892553374091 2.18393143382565 0.0289672867943449 1.0 0.3214055281787815 120 Q15392,P41229,O43933,Q86V48,Q99575,Q15125,Q8IZA0,Q13510,P16278,P27635,P42892,Q92917,P37268 13 |
| Oculomotor apraxia 0.5561155162019208 2.1772269070402097 0.0294636416658717 1.0 0.3260552767387398 25 O14773,Q13501,P05067 3 |
| Congenital diaphragmatic hernia 0.564228784244614 2.1760978265950413 0.029547946409264 1.0 0.3260552767387398 24 O60216,Q9UBM7,Q9Y4A5,Q96ST3,Q8IYB7,Q6KC79,P53701,Q8N3U4,Q2M1P5 9 |
| Abnormal mean corpuscular volume 0.5426316980908482 2.1724704109120063 0.0298201991196092 1.0 0.3277402026171706 27 Q658P3,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Abnormal circulating iga level 0.6558047909872368 2.167598725166614 0.0301892308413318 1.0 0.3302346686620042 13 P54132,P50851,P49327,P13051,P42345,Q15904 6 |
| Perseveration 0.8039951106725168 2.165942845257508 0.0303155547188311 1.0 0.3308380607695919 7 P61916 1 |
| Abnormality of the alveolar ridges 0.7749691196706538 2.1627021803572752 0.0305640933009836 1.0 0.332245284111913 8 Q15392 1 |
| Abnormal macular morphology 0.5411707078146744 2.161876355980029 0.0306277079290375 1.0 0.332245284111913 27 O43933,P50897,Q13510,P04439,Q9Y4I1,Q12948,Q6P2Q9,P60891 8 |
| Increased cerebral lipofuscin 0.9544913741820376 2.1612204764207985 0.0306783124089777 1.0 0.332245284111913 5 P50897,O14773,O75503,P07602 4 |
| Abnormality of the thenar eminence 0.5957348778845908 2.1605467819386854 0.0307303661363997 1.0 0.332245284111913 19 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Overlapping fingers 0.7162012809811462 2.157946658953494 0.0309319792343387 1.0 0.3324347482945596 10 P78527,Q15125 2 |
| Thin eyebrow 0.6536195017427362 2.1556962112411857 0.0311073942220752 1.0 0.3324347482945596 13 O43933,P48449,P46778,Q15125,P62304,O75531 6 |
| Mesomelia 0.7732384857409387 2.154921572057893 0.0311679719851809 1.0 0.3324347482945596 8 Q9UBM7 1 |
| Mutism 0.6053838930426668 2.1547738015146316 0.0311795393188363 1.0 0.3324347482945596 17 P42858,Q13510,Q13501,O00443,P60891 5 |
| Abnormal sacrum morphology 0.5077107313189392 2.154339495459299 0.0312135576993672 1.0 0.3324347482945596 33 Q14739,P04066,Q15125,P27635,P01889 5 |
| Diplopia 0.5819759633821359 2.1483252424568375 0.0316879269680687 1.0 0.3346887767826675 21 Q709C8,O14773,O00170,Q04637,Q9Y4I1,P01889,O75165,P11166 8 |
| Abnormal auditory evoked potentials 0.7139513567014018 2.1469519036270093 0.0317971108408221 1.0 0.3346887767826675 10 P07602,Q15125 2 |
| Abnormal myeloid leukocyte morphology 0.3778316783866167 2.145295442924078 0.0319292326306759 1.0 0.3346887767826675 104 O14617,Q9NZC9,P02786,Q9Y2Q5,Q14739,Q07020,Q13510,P16278,P61313,P62899,P18077,P62847,O15118,P01889,P42766,P61916,P61353,P35579 18 |
| Ectopic calcification 0.4366378985154948 2.13574534825254 0.0327001759256979 1.0 0.3385815542952557 61 Q9UBM7,Q14739,Q15125,P05067,O00584 5 |
| Abnormal tracheal morphology 0.4599128141964658 2.134216672467453 0.0328250485455059 1.0 0.3390879830115113 46 Q9UBM7,Q9H7D7,Q9Y4A5,Q14739,Q15125,P46777,Q9H9Y6,Q93008,Q96HA7 9 |
| Ascites 0.5158357907663931 2.1333629680573103 0.0328949624302412 1.0 0.3390879830115113 31 Q14739,Q13510,O15118,P61916,Q14108 5 |
| Abnormal hand bone ossification 0.7391024375673811 2.1268030568887233 0.0334364502161479 1.0 0.3411827351906266 9 Q9NUQ7,Q15125 2 |
| Aplasia hypoplasia involving the vertebral column 0.635871067699102 2.1267916772437587 0.0334373961348588 1.0 0.3411827351906266 14 Q14739,P04066 2 |
| Eeg with spike wave complexes 0.6226415276529725 2.1249370680162505 0.0335918644167627 1.0 0.3411827351906266 15 O75503,P42356,P43034,P53007,Q14108,P11166 6 |
| Vertical supranuclear gaze palsy 0.6614686164141202 2.124712375062026 0.0336106202240875 1.0 0.3411827351906266 12 P61916,O15118 2 |
| Resting tremor 0.5953703183510288 2.124697125637132 0.033611893464682 1.0 0.3411827351906266 18 P07602,Q709C8,P26358,Q9NZJ7 4 |
| Hypersplenism 0.7372479654481342 2.118110466437963 0.0341657133354169 1.0 0.3460488045672188 9 P07602,Q14108 2 |
| Dysmetria 0.4392133740268271 2.1105247819728525 0.034813178884967 1.0 0.3490016029350961 52 P35251,O14773,O75503,P42356,Q9NPL8,Q8IV08,Q12768 7 |
| Temperature instability 0.7633034379806046 2.110124873264419 0.034847601354095 1.0 0.3490016029350961 8 P07602,Q2TAA5,Q9NZJ7 3 |
| Slow pupillary light response 0.940629018641566 2.10748651055639 0.0350754297603397 1.0 0.3490016029350961 5 P60891,P07602 2 |
| Abnormal pupillary light reflex 0.940629018641566 2.10748651055639 0.0350754297603397 1.0 0.3490016029350961 5 P60891,P07602 2 |
| Abnormal reticulocyte morphology 0.4820284639167003 2.105669201583 0.0352330968982061 1.0 0.3490016029350961 37 Q658P3,P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 9 |
| Abnormality of carpal bone ossification 0.7622769540108998 2.105483857391885 0.0352492110355169 1.0 0.3490016029350961 8 Q9NUQ7,Q15125 2 |
| Somatic sensory dysfunction 0.3788814206760732 2.103189466264202 0.0354492107201296 1.0 0.3490016029350961 109 P41229,O14773,P07686,P05067,P07602,Q8IV08,P01889,Q12768,P54802,P06280,P60891,Q9NZJ7 12 |
| Abnormality of the ribs 0.4317287266523524 2.100897676903851 0.0356499494033175 1.0 0.3490016029350961 63 Q9UBM7,Q86V48,Q14739,P16278,O00754,P15586,Q12768,P54802 8 |
| Abnormality of hair pigmentation 0.5531528655296606 2.0999293161563974 0.0357350594463667 1.0 0.3490016029350961 24 O14617,Q9UBM7,O00203,Q9Y2Q5,Q6PGP7,Q9Y4I1,P37268 7 |
| Giant platelets 0.9245170876671622 2.0993586295944846 0.0357852986875286 1.0 0.3490016029350961 2 Q14739 1 |
| Focal onset seizure 0.3871907881143028 2.0993105710925906 0.0357895321695351 1.0 0.3490016029350961 94 O75503,O14802,Q96N66,P07602,P67870,Q9NZJ7,Q96CW1,P42356,Q9NUQ7,P43034,P49815,Q2M389,O14617,Q9NZ01,Q14204,P27635,Q8WVX9,Q6ZXV5,Q9ULK4,Q9UBX3,P11166,Q9NZC9,P19022,Q6P1N0,P42345 25 |
| Skeletal muscle hypertrophy 0.4380482663128426 2.0989289390624064 0.0358231653693057 1.0 0.3490016029350961 52 O43933,O00170,Q99575,P04066,P07686,P16278,O00754,P60891,P10253,Q14118 10 |
| Abnormal platelet volume 0.7598604396038128 2.094548810543189 0.0362111197483883 1.0 0.349311552772734 8 O15143,Q14739,P35579 3 |
| Erythroid hypoplasia 0.5794682788040768 2.0936504088605763 0.0362911335747968 1.0 0.349311552772734 20 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Partial albinism 0.9194650817236256 2.076849774765695 0.0378154265530652 1.0 0.3566002394425991 2 Q9Y2Q5 1 |
| Macular dystrophy 0.9194650817236256 2.076849774765692 0.0378154265530654 1.0 0.3566002394425991 2 O43933 1 |
| Profound global developmental delay 0.6138738363633605 2.074229877869875 0.0380579666515561 1.0 0.3581609047835719 15 O43933,P60891,P37268,P08243 4 |
| Tube feeding 0.4199490552583305 2.069763318328442 0.0384745140043281 1.0 0.3606209992058898 72 Q9NZ01,Q9H7D7,Q9BSV6,Q99720,Q14204,O75962,Q6P1N0,Q96N66,Q9NUQ7,P07602,Q9H490,P67870,Q2M389,Q9ULK4,P60891,Q9NZJ7,P37268 17 |
| Finger agnosia 0.9156017830609215 2.059612991649075 0.0394355532390089 1.0 0.3640324539052197 2 P05067 1 |
| Psychomotor deterioration 0.7239437484664999 2.055502077746554 0.0398305351873442 1.0 0.3640324539052197 9 P07602,P50897,P06865 3 |
| Abnormality of the clitoris 0.5839921429678495 2.054273062701225 0.0399492703796136 1.0 0.3640324539052197 18 O43933,Q9UBM7 2 |
| Pure red cell aplasia 0.5675273783425843 2.0542627925926915 0.0399502638389772 1.0 0.3640324539052197 21 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Abnormal vascular physiology 0.4307420154658224 2.054158059911345 0.0399603961519692 1.0 0.3640324539052197 58 Q9NZC9,Q14739,Q8IZA0,P05067,P01889,P51798,P06280,Q96HP0,Q14108,P51970 10 |
| Aplasia hypoplasia of the thumb 0.4411625371032223 2.0538991000849594 0.0399854584561503 1.0 0.3640324539052197 49 Q9UBM7,P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 9 |
| Abnormality of the peripheral nervous system 0.3784790553111982 2.0532575628589855 0.0400476042993724 1.0 0.3640324539052197 113 Q9UBM7,P35251,Q99720,Q15125,P07686,Q99996,P42892,P07602,P06280,P60891,Q9NZJ7 11 |
| Primitive reflex 0.7778518020889715 2.052000247259441 0.0401696383853253 1.0 0.3640324539052197 7 P17900 1 |
| Diminished motivation 0.5317892604635425 2.0480340377202415 0.0405566643356176 1.0 0.3668247713935536 26 Q709C8,P42858,P17900,P06865,Q13501,P26358,O75165 7 |
| Paresthesia 0.5316364782602868 2.0469319504640024 0.0406647664917132 1.0 0.3670883483883007 26 P06280,P54802,P05067 3 |
| Excessive daytime somnolence 0.5872606061199636 2.04452902803443 0.040901312742136 1.0 0.3673173482666146 17 P60891,Q9UBM7,P42858 3 |
| Abnormal social behavior 0.4173325171668785 2.040787526196632 0.0412719509663548 1.0 0.3696980732997757 72 Q96CW1,Q5KU26,Q2TAA5,Q709C8,Q15125,P15289,P05067,Q9NPL8,P07602,P53007,P49815,Q9NZJ7,Q9BU61,Q9H2P0,Q86Y39,O96008,P11166 17 |
| Biliary cirrhosis 0.7748639801805197 2.0388890471408887 0.0414611022905422 1.0 0.3706782010552515 7 Q14739 1 |
| Partial duplication of the phalanx of hand 0.5517029755484221 2.037660766275482 0.0415838704075248 1.0 0.3710622140587008 23 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Cachexia 0.5805986220890906 2.033166954851288 0.0420356583835486 1.0 0.3737600000376072 18 P07602,P11310,Q99720 3 |
| Recurrent upper and lower respiratory tract infections 0.9096582466567608 2.0330547188183066 0.0420469950569302 1.0 0.3737600000376072 2 P13051 1 |
| Abnormality of humoral immunity 0.427298540225824 2.031504425976211 0.0422038510202358 1.0 0.3744383652539625 60 Q9NZC9,P02786,Q9Y2Q5,O00754,P42345,Q15904,Q14108,P14174 8 |
| Normochromic anemia 0.5429669306498927 2.029339566152632 0.0424237159512341 1.0 0.3756721056329289 24 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Hip osteoarthritis 0.9084695393759288 2.027737302665375 0.0425870663335752 1.0 0.3764016566250784 2 P01889 1 |
| Focal white matter lesions 0.7713743474988264 2.0235528901716155 0.0430161764090788 1.0 0.378015095341756 7 Q9H2P0,O00584,P42345,O00443 4 |
| Atrioventricular canal defect 0.7431592622742074 2.018618031746254 0.0435269353917813 1.0 0.3782368647409184 8 Q9UBM7,Q12768,P19022 3 |
| Limb joint contracture 0.3739522242214064 2.01374768434226 0.0440360308639837 1.0 0.3791102211871064 111 Q15392,P41229,O43933,Q86V48,Q9H7D7,Q99720,Q8IZA0,P27635,P42892,Q92917,Q9HC21,Q14118,P37268 13 |
| Emg chronic denervation signs 0.6158237883758926 2.013597970731022 0.0440517596687959 1.0 0.3791102211871064 14 Q13510,P07602,P60891 3 |
| Abnormality of femur morphology 0.4137152035176417 2.0133888105039577 0.0440737418335333 1.0 0.3791102211871064 73 Q9NZC9,Q99575,P04066,Q14739,Q14839,P16278,O00754,Q9NUQ7,P07602,Q8NCM8,P51798,P06280,Q96HA7,Q9NZJ7 14 |
| Neurofibrillary tangles 0.9164187983343304 2.0129801309667266 0.0441167196520164 1.0 0.3791102211871064 5 P61916,Q709C8,O15118,P05067 4 |
| Foam cells 0.9154915823591409 2.009344258917576 0.0445006372350189 1.0 0.3796026834965195 5 Q13510,P61916,O15118 3 |
| Action tremor 0.4281635704187071 2.0074660364713712 0.0447000635013805 1.0 0.3806054857471029 54 O14773,Q99720,P07602,Q14108,Q9NZJ7 5 |
| Ectrodactyly 0.5806491406839179 2.003987532797942 0.0450713959337487 1.0 0.3809762176290872 17 P48449,Q9UBM7,Q99720,Q96HP0 4 |
| Thoracolumbar scoliosis 0.7663530333790995 2.0014422264321503 0.0453447539406921 1.0 0.3823206825818142 7 P27635,Q99575 2 |
| Hypomimic face 0.6383648632759195 2.0009764555069203 0.0453949272499809 1.0 0.3823206825818142 12 Q04637,P04062,Q6P1N0,Q6Y7W6,Q9Y3I1,P12235,O75165,Q96QK1,Q96RR1,Q15043 10 |
| Abdominal distention 0.5380920960797928 1.9953743312567411 0.0460020683656847 1.0 0.3861867366976191 24 P07602,P42345,Q9NZJ7,Q9NZC9 4 |
| Macroglossia 0.4620480958654834 1.9951765585798276 0.0460236267515556 1.0 0.3861867366976191 40 O43933,O00170,Q99575,P04066,P07686,P16278,O00754,P10253 8 |
| Multicystic kidney dysplasia 0.5790974123978395 1.9944475147498535 0.0461031703306471 1.0 0.3861867366976191 17 Q9UBM7 1 |
| Infection related seizure 0.544731910444716 1.9900806572536447 0.0465820511874555 1.0 0.387636562398764 23 Q9BSV6,Q9H7D7,P27635,Q96N66,P05067,Q8WVX9,P11310,P11166 8 |
| Developmental glaucoma 0.502239287265701 1.9897251133101637 0.0466212246980595 1.0 0.387636562398764 30 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353,Q14118 9 |
| Infantile muscular hypotonia 0.4103666791604763 1.989072923773788 0.0466931544296209 1.0 0.387636562398764 74 Q9BSV6,Q2TAA5,Q14118,P16278,Q13510,P42356,O00754,P27635,P17900,P07602,Q93008,P10253,Q9NZJ7,Q15043 14 |
| Abnormal arterial physiology 0.4969855940971823 1.9863577756906985 0.0469936115866371 1.0 0.3880520431017339 31 P06280,P01889,Q14739,P05067 4 |
| Telangiectasia 0.4679696553903348 1.9855265562599316 0.0470859185337266 1.0 0.3881248852186088 37 P10619,Q8IZA0,Q14739,P06280 4 |
| Diffuse cerebral atrophy 0.5725389394594594 1.9828528151227107 0.0473838725341082 1.0 0.3886838929624107 18 P07602,Q9NZJ7 2 |
| Abnormality of the larynx 0.425668512751882 1.982170493888139 0.0474601618605738 1.0 0.3886838929624107 54 Q9UBM7,Q14739,Q13510,P27635,Q13501,Q8NCM8,P07602,Q96HA7,Q9NZJ7 9 |
| Adenocarcinoma of the colon 0.5425729317609389 1.9752980249630565 0.0482343372493156 1.0 0.3905267104634245 23 Q07864,P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 9 |
| Clonic seizure 0.7335623368670858 1.974707734484542 0.0483013246970249 1.0 0.3905267104634245 8 Q9NZC9,P07602 2 |
| Increased mean corpuscular volume 0.5349096915171876 1.973137966694282 0.0484798456928206 1.0 0.3912895878922274 24 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Persistence of hemoglobin f 0.5486363519814801 1.968724807180056 0.0489847010047659 1.0 0.3945760677985506 22 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Abnormal larynx morphology 0.4829930379882972 1.955412411356534 0.050534412364446 1.0 0.3995697290592853 33 Q14739,Q13510,P27635,P07602,Q8NCM8,Q96HA7,Q9NZJ7 7 |
| Adenocarcinoma of the intestines 0.5128112158098543 1.9539056991848056 0.0507123704572998 1.0 0.4001684051047848 27 Q07864,P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 9 |
| Coarse facial features 0.4083516187865572 1.9532922339543464 0.0507849772019408 1.0 0.4001684051047848 73 Q9H7D7,O00170,Q9Y2Q5,P04066,P10619,Q8IWS0,P16278,Q14839,P07686,O00754,P15586,P54802,P06280,Q9H2P0,O00443 15 |
| Abnormal size of the clitoris 0.5911597194089134 1.941596565316202 0.0521859590206337 1.0 0.4077521403141616 15 O43933,Q9UBM7 2 |
| Hypokinesia 0.6144662457679282 1.9398116122904656 0.0524025888869872 1.0 0.4080807621896747 13 P13473,P42858 2 |
| Blindness 0.3979290490096038 1.9355826672850764 0.0529188349047613 1.0 0.4080807621896747 80 O43395,P07602,Q6P2Q9,P60891,Q9NZJ7,P50897,P16278,P17900,P06865,O43505,O75251,P51798,Q86Y39,Q9NPL8,P01889,Q9BU61,Q9NR50,Q14232,O00170,P07686,P49770,Q92620,Q8IY37 23 |
| Aspiration 0.6385821630029946 1.9351945212163153 0.0529664298181464 1.0 0.4080807621896747 11 P42356,P17900,P06865 3 |
| Decreased circulating igg level 0.6261918946947449 1.9351256435388493 0.0529748794131925 1.0 0.4080807621896747 12 P54132,P49327,P13051,Q15904,Q96HA7,P18583 6 |
| Abnormality of the skull base 0.4118594796417449 1.9348996853700504 0.0530026068254414 1.0 0.4080807621896747 68 Q9UBM7,P80404,P19022,Q14739,Q15125,O00754,Q12948,Q93008,Q8NCM8,Q9H490,Q9NPL8,Q12768,Q14118 13 |
| Malignant genitourinary tract tumor 0.536670850943604 1.934774112527092 0.0530180211577895 1.0 0.4080807621896747 23 P54132,P46777,Q07020,P62899,P61313,P62847,P18077,P62244,P60866,P40692,P42766,Q969E8,P61353,P62273,P52701 15 |
| Hepatosplenomegaly 0.4381311201757185 1.92969273155865 0.0536449210945466 1.0 0.4108172601832051 46 O00203,Q658P3,Q14739,P10619,P07686,P16278,Q13510,O00754,P51798,Q15833 10 |
| Diminished movement 0.5484966512628241 1.9289472664590723 0.0537374091216504 1.0 0.4108172601832051 21 Q709C8,Q2TAA5,P42858,O75165,Q9Y3D3,P13473 6 |
| Periventricular heterotopia 0.6372820273729753 1.9283196261050417 0.0538153821147713 1.0 0.4108172601832051 11 Q9UBM7,P19022 2 |
| Talipes equinovarus 0.3953417155592819 1.9217632996231833 0.0546355482422706 1.0 0.4150337643436543 81 Q15392,P41229,O43933,Q15125,P42356,O00754,P10412,Q8NCM8 8 |
| Triphalangeal thumb 0.5067100113201215 1.9085931144413488 0.056314600871 1.0 0.4236352418273126 27 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Ketotic hypoglycemia 0.8811292719167907 1.90493165033277 0.0567889564012227 1.0 0.4258255779182007 2 P53985 1 |
| Orthostatic hypotension 0.5715836143306666 1.901783193133356 0.057199504390736 1.0 0.4282133589573784 16 P07686,P15289,P07602,O75165,Q9NZJ7 5 |
| Abnormality of lysosomal metabolism 0.8872933379899252 1.898211483301146 0.0576682287130783 1.0 0.4303364290322649 5 Q13510,P07602,Q9NZJ7 3 |
| Absent thumb 0.5047389191731215 1.8939119271994589 0.0582367010858704 1.0 0.4320679768190231 27 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Muscular hypotonia of the trunk 0.386945066262389 1.8929926300719564 0.0583588495664748 1.0 0.4320679768190231 85 O14617,P19022,Q9BSV6,P42858,Q2TAA5,O00754,Q96N66,P17900,P43034,P08243,P07602,Q6ZXV5,Q8WVX9,P60891,Q9HC21,Q9NZJ7,Q16625,Q15043 18 |
| Sparse and thin eyebrow 0.6306068388747335 1.892946700083896 0.0583649579355445 1.0 0.4320679768190231 11 P48449,P46778,Q15125,P62304,O75531 5 |
| Dysphagia 0.3868828180156812 1.891960606103543 0.0584962297380768 1.0 0.4323513069194268 139 Q86V48,P42858,Q99720,Q14739,Q8IZA0,Q13510,P15586,P05067,P07602,O15118,P01889,P67870,P60891,P61916,Q14108,Q9NZJ7 16 |
| Depression 0.3613880751262761 1.8861635974972732 0.0592729123108197 1.0 0.4353234902575057 107 Q04637,Q96N66,P07602,P06280,Q9BZH6,Q9NZJ7,P50897,O00754,Q9NUQ7,P15289,P49815,Q2M389,P26358,O75165,P52701,Q9NZ01,Q709C8,Q9ULK4,P01889,P11166,O00170,P42858,Q6P1N0,Q13501,P40692 25 |
| Multifactorial inheritance 0.5932315183135881 1.8844217834973036 0.0595079455820217 1.0 0.4356731323005027 14 P42892,Q8NCM8,P01889 3 |
| Immunodeficiency 0.4085820556883937 1.8800842098773445 0.060096602108145 1.0 0.4365630615465005 66 Q9NZC9,P02786,Q9Y2Q5,O14646,O00754,P13051,P78527,P60891,P14174 9 |
| Fibrous tissue neoplasm 0.5411240893448953 1.8799733245084105 0.0601117135398101 1.0 0.4365630615465005 21 Q15392 1 |
| Albinism 0.8754829123328385 1.8794556094941817 0.0601823093193061 1.0 0.4365630615465005 2 O14617 1 |
| Recurrent abscess formation 0.8754829123328383 1.87945560949418 0.0601823093193063 1.0 0.4365630615465005 2 P53634 1 |
| Abnormality of dermal melanosomes 0.8754829123328383 1.87945560949418 0.0601823093193063 1.0 0.4365630615465005 2 Q9Y4I1 1 |
| Proportionate short stature 0.4535632314013381 1.8793777805558052 0.0601929280385689 1.0 0.4365630615465005 38 Q15392,P10619,Q14739 3 |
| Glomerulopathy 0.6156079786566887 1.8775111100401771 0.0604480760713486 1.0 0.4370499310353027 12 Q14108,P06280 2 |
| Pallor 0.4152159072148711 1.8722479392865772 0.0611723095779837 1.0 0.4402323022105979 53 O00170,Q658P3,P46777,Q07020,P62899,P61313,P62847,P18077,P06865,P42766,P51798,P61353 12 |
| Abnormal paranasal sinus morphology 0.5338903586672499 1.869103237927671 0.0616084526365618 1.0 0.4426857748182013 22 P04066 1 |
| Dilation of virchow robin spaces 0.872511144130758 1.8660325458302984 0.0620368122081611 1.0 0.4450758332650327 2 P27635 1 |
| Confusion 0.5434503439111968 1.860327817693846 0.0628391601940354 1.0 0.4488458454183802 20 O14802,O00754,P49327,P05067,P01889,P26358,O96008,P11166 8 |
| Clonus 0.4660738257629494 1.859026730699662 0.063023349558321 1.0 0.4488458454183802 34 P42858,Q99720,P07602,Q12768,P60891 5 |
| Low set posteriorly rotated ears 0.3965334610368144 1.8587963915215784 0.0630560041495931 1.0 0.4488458454183802 76 Q15392,Q9UBM7,O43933,P37268 4 |
| Abnormal periventricular white matter morphology 0.4363307872265872 1.8577981735704363 0.0631976806077738 1.0 0.4488458454183802 44 O75503,P27635,P17900,P07602,Q9NZJ7 5 |
| Eeg with focal epileptiform discharges 0.439024964722578 1.857513573322907 0.0632381219077304 1.0 0.4488458454183802 43 Q9NZ01,O75503,Q6P1N0,P42356,Q96N66,Q9NUQ7,Q9ULK4,Q2M389,P60891,Q9UBX3,Q14118,Q96CW1,P11166 13 |
| Abnormality of the musculature of the hand 0.4529077079157487 1.855308871637845 0.0635521320601171 1.0 0.4503869846760434 37 Q07020,P62899,P61313,P62847,P18077,Q13501,P42766,P61353 8 |
| Diastema 0.7325531146821762 1.8513128037548927 0.0641245651552062 1.0 0.4530624671832126 7 P41229,Q8WXI9,Q8TC12 3 |
| Decreased circulating total igm 0.7066311947600621 1.8504260320640895 0.0642521698904299 1.0 0.4532751711997097 8 Q15904,P49327,P54132,Q9Y2Q5 4 |
| Gonosomal inheritance 0.3939218831966039 1.8426829548681896 0.0653753141175248 1.0 0.4581194207346476 77 P41229,Q15125,Q15904,O60879,P06280,P60891,P13473 7 |
| Communicating hydrocephalus 0.7302134652274271 1.8408393277327884 0.065645107688536 1.0 0.4582343928588649 7 O75970,O00754 2 |
| Cholecystitis 0.6507576369683348 1.8326563461876952 0.0668536930318532 1.0 0.4652736809956376 10 P07602,Q9NZJ7 2 |
| Abnormality of iron homeostasis 0.7482843186284018 1.8203000794348407 0.0687133193079927 1.0 0.4704045683720614 6 Q658P3,P28288 2 |
| Abnormal hand morphology 0.3662770439767038 1.820290906433516 0.0687147154815726 1.0 0.4704045683720614 119 Q9UBM7,Q15125,Q07020,P61353,P41229,P46777,P42356,P18077,Q93008,P42766,P51798,Q8IWS0,P62899,P61313,P62847,P27635,P08243,O43933,O00170,Q13510,P42345,P78527,Q96HP0 23 |
| Parkinsonism with favorable response to dopaminergic medication 0.6481581407735957 1.8195073779135729 0.068834058245804 1.0 0.4704045683720614 10 P07602,O75165,Q9NZJ7 3 |
| Chorea 0.3755953717803986 1.8121620389491344 0.0699611627123786 1.0 0.4748167086859098 88 Q9NZ01,Q9BSV6,P42858,Q99720,Q14204,P17480,Q6P1N0,Q96N66,Q9NUQ7,P17900,P15289,P07602,Q9ULK4,Q2M389,P67870,Q9BU61,Q9NZJ7,P11166 18 |
| Abnormal gastrointestinal motility 0.4831370565801042 1.8070543789326736 0.0707538008850425 1.0 0.4757836653131233 29 Q9UBM7 1 |
| Abnormal cerebral artery morphology 0.5446275700618265 1.806624609483558 0.0708208297325085 1.0 0.4757836653131233 18 P10253,P05067 2 |
| Abnormal aggressive impulsive or violent behavior 0.3660708693841016 1.8065705145960824 0.0708292703118791 1.0 0.4757836653131233 120 Q9UBM7,P41229,O75503,Q86V48,P42858,P19022,Q15125,O00462,P27635,P67870,P54802,Q8WYQ5 12 |
| Nephrotic syndrome 0.4829162967598305 1.80534162914776 0.0710212391429905 1.0 0.4757836653131233 29 Q9NZC9,Q8IY37,Q92621,P06280,Q14108 5 |
| Hammertoe 0.5444226141818085 1.805319453556077 0.0710247071902145 1.0 0.4757836653131233 18 Q9UBM7 1 |
| Vomiting 0.3697220437702537 1.802042904041057 0.0715386556195822 1.0 0.476719108076011 91 Q9UBM7,P21953,O00170,Q2TAA5,Q9NWH9,P11117,P35610,Q9NPL8,P07602,Q96RQ3,Q13423,P06280,Q86Y39,P11310,Q9NZJ7,Q9BU61 16 |
| Juvenile onset 0.4379377797335113 1.801163833206916 0.0716770609905639 1.0 0.476719108076011 41 O14773,Q13510,P16278,O15118,P51798,P54802,P06280,P35579 8 |
| Postural instability 0.5378898326572451 1.7922790681173115 0.0730882745473695 1.0 0.4790726328432982 19 P35251,Q709C8,O75503,Q8WVX9,O75165 5 |
| Decerebrate rigidity 0.8606326353581999 1.792186933669515 0.0731030269798445 1.0 0.4790726328432982 5 P16278,Q9NZJ7,P07602 3 |
| Cirrhosis 0.4391735927247251 1.7911740096027018 0.0732653755722412 1.0 0.4790726328432982 40 O43933,Q14739,Q6PGP7,Q15904,P11717,Q96HP0,Q14108 7 |
| Severe short stature 0.48511780532862 1.7906186880282078 0.0733545060349099 1.0 0.4790726328432982 28 Q15392,P10619 2 |
| Postural tremor 0.5462769839019448 1.7905102454065784 0.0733719216860702 1.0 0.4790726328432982 17 O14773 1 |
| Abnormal lower limb bone morphology 0.4041348196759416 1.7904800986782514 0.0733767637863609 1.0 0.4790726328432982 174 Q15392,Q9UBM7,Q9H7D7,Q99575,P04066,Q15125,Q9NWH9,P07602,P06280,Q9NZJ7,P41229,Q9Y4A5,Q14739,P16278,O00754,Q9NUQ7,Q8NCM8,Q93008,P51798,Q14118,Q8IWS0,Q14839,Q96HA7,O43933,Q9NZC9,Q86V48,P42858,Q13510,Q2M1P5,O00443,Q96HP0 31 |
| Ankle clonus 0.5876186627266243 1.78898786703586 0.073616769567727 1.0 0.4790726328432982 13 P07602,P42858,Q9NZJ7 3 |
| Barrel shaped chest 0.8597283624938126 1.78857550589514 0.0736832055108798 1.0 0.4790726328432982 5 P04066 1 |
| Micropenis 0.3993301693427971 1.7880124091896954 0.0737740057953559 1.0 0.4790726328432982 67 P48449,Q9UBM7,P41229,P19022,Q8IWS0,Q14839,P42892,Q8NCM8,P78527,Q2M1P5,Q8IY37 11 |
| Sea blue histiocytosis 0.9503567181926263 1.7873199053634412 0.0738857986123133 1.0 0.4790726328432982 3 P61916,O15118 2 |
| Vacuolated lymphocytes 0.9503567181926262 1.7873199053634412 0.0738857986123133 1.0 0.4790726328432982 3 O00754,P04066 2 |
| Cns demyelination 0.5762687559222819 1.7863515549936997 0.0740423542945452 1.0 0.4794190879043741 14 P60891,P07602 2 |
| Young adult onset 0.5978161519038507 1.7799274044603788 0.0750878421277745 1.0 0.4848380250722552 12 P07602,O15118 2 |
| Undetectable visual evoked potentials 0.9467438566281896 1.7730521943397874 0.0762200584918466 1.0 0.4889491852043497 3 P60891 1 |
| Undetectable electroretinogram 0.9466974951716848 1.772869035310594 0.0762504106846964 1.0 0.4889491852043497 3 O14773 1 |
| Scrotal hypoplasia 0.5344871628199256 1.7701967086514598 0.0766943774493407 1.0 0.4908346194728676 19 Q9UBM7,Q9Y4A5,Q8IWS0 3 |
| Diabetes insipidus 0.5497080419767196 1.767922073812142 0.0770739320075541 1.0 0.4908346194728676 16 P60891,P06280 2 |
| Thoracic kyphosis 0.5496312376561383 1.7674491667587295 0.07715303504751 1.0 0.4908346194728676 16 Q9NZC9,Q96HA7,O00754,Q99575 4 |
| Neoplasm of the gallbladder 0.8544061622865959 1.7673005326394882 0.0771779106979277 1.0 0.4908346194728676 5 P07602,Q9NZJ7 2 |
| Biliary tract neoplasm 0.8544061622865959 1.7673005326394882 0.0771779106979277 1.0 0.4908346194728676 5 P07602,Q9NZJ7 2 |
| Inappropriate crying 0.6878912926180525 1.763056433819228 0.0778909720615295 1.0 0.4936405060697285 8 P07602 1 |
| Hypotension 0.4927044308183428 1.7621507458658676 0.0780438313532481 1.0 0.4936405060697285 26 O00170,P07686,P15289,P35610,P07602,Q13423,O75165,Q9NZJ7 8 |
| Self mutilation 0.5821144799447301 1.757800570531855 0.0787814482446411 1.0 0.4957665119377923 13 O75962,Q9UBM7,Q8WXI9 3 |
| Ulnar deviation of the hand 0.7337745108310691 1.7569660957775766 0.0789235883328898 1.0 0.4957665119377923 6 Q14739 1 |
| Abnormality of skin physiology 0.3587069424555329 1.752615599557167 0.0796680117774337 1.0 0.4984880037056387 95 P48449,Q9UBM7,P10321,P02786,O00170,Q07864,Q14739,Q15125,O00203,P01889,Q15833,Q07954,Q92542,P53634,P14174,O75352 16 |
| Hepatomegaly 0.4037653772217465 1.749526829112551 0.0801999953691543 1.0 0.5001559510747541 178 P04066,Q9NWH9,P28288,P15586,P07602,Q15833,P61916,Q14108,Q9NZJ7,Q658P3,O00203,Q14739,P16278,O00754,Q9BX67,Q15904,P51798,P54802,Q86Y39,P10253,Q9HC21,O14617,P35573,Q9NPL8,O15118,Q9BU61,P11310,Q16625,P11166,O43933,P07686,Q13510,Q6PGP7,Q96I36,O00443,P35610,P09001,P14174 38 |
| Bilateral cryptorchidism 0.6337334096839005 1.746243800065023 0.0807685968474707 1.0 0.5013260437168109 10 P48449,Q2M1P5,P27635,P37268 4 |
| Long penis 0.8457652303120361 1.74480914372268 0.0810180966459963 1.0 0.5013355037806906 2 O00170 1 |
| Abnormality of epiphysis morphology 0.397394091324915 1.7423386571549502 0.0814492029023612 1.0 0.5026262816728579 64 O43933,Q9UBM7,Q9NZC9,Q14739,Q15125,P16278,Q9NUQ7,Q8NCM8,Q2M1P5,P51798,Q96HA7 11 |
| Hemivertebrae 0.6023342519534642 1.7417596509429851 0.0815505097751165 1.0 0.5026262816728579 11 Q15125 1 |
| Reduced visual acuity 0.3629150843673939 1.7413241940721438 0.0816267676194897 1.0 0.5026262816728579 122 Q9H7D7,O43395,P36404,P07602,Q6P2Q9,P60891,Q9H2P0,Q9NZJ7,P50897,O00203,P16278,P15289,P17900,P06865,O43505,O75251,P51798,Q86Y39,Q15043,Q9BSV6,Q71SY5,Q9NPL8,P01889,Q9BU61,Q9ULH0,Q9NR50,Q14232,O00170,P07686,P49327,P49770,P10412,Q92620,Q8IY37,O75962,Q9UHD1 36 |
| Central nervous system cyst 0.3977793043994174 1.7393617652169986 0.0819711492131083 1.0 0.5035716337570191 63 O43933,Q9UBM7,P80404,Q9BSV6,Q15125,Q8NCM8,Q93008,Q12768,Q96HP0,Q14118 10 |
| Telangiectasia of the skin 0.5085092359169388 1.7392151258609891 0.081996929824492 1.0 0.5035716337570191 23 Q14739,P06280 2 |
| Abnormal number of erythroid precursors 0.4890050594450802 1.7346958169526767 0.0827946976213813 1.0 0.5065277751374011 26 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Menorrhagia 0.8430906389301638 1.7326494277867217 0.0831579982803794 1.0 0.5068238502496965 2 P35579 1 |
| Choking episodes 0.8427934621099559 1.7312979711180922 0.0833986331342262 1.0 0.5068238502496965 2 P42858 1 |
| Staring gaze 0.8427934621099559 1.7312979711180922 0.0833986331342262 1.0 0.5068238502496965 2 P42858 1 |
| Lower limb hypertonia 0.5772248349267056 1.7300224740368166 0.083626259975909 1.0 0.5068752329205042 13 Q8WVX9,P41229,Q9BSV6,Q14739 4 |
| Ventricular arrhythmia 0.4454015114232824 1.727997045401743 0.0839887540916048 1.0 0.5068752329205042 35 P42892,P13473,P10253,Q99996 4 |
| Elevated pulmonary artery pressure 0.4728574520880916 1.7270279770194277 0.0841626390924776 1.0 0.5068752329205042 29 Q9NZC9,Q8IZA0,P01889,P51798,Q96HP0,Q14108,P51970 7 |
| Supernumerary tooth 0.7046529878539048 1.7257651313236404 0.0843896752275015 1.0 0.5075389393695402 7 Q9UBM7 1 |
| Aplasia of the fingers 0.4676241610350657 1.7185090233099003 0.0857038100272127 1.0 0.5127979213098374 30 P46777,Q07020,Q9BXW9,P62899,P61313,P18077,P62847,Q6KC79,P62244,P60866,P42766,O75962,Q969E8,P61353,P18583,P62273,Q9NVI1 17 |
| Vegetative state 0.8420792463231276 1.7179003555201389 0.0858147919819081 1.0 0.5127979213098374 5 P07602,Q9NZJ7 2 |
| Incomprehensible speech 0.8398216939078756 1.7177793570620867 0.0858368681699783 1.0 0.5127979213098374 2 Q6P1N0 1 |
| Generalized myoclonic atonic seizure 0.8395245170876676 1.7164270970705409 0.0860839005914826 1.0 0.5127979213098374 2 P11166 1 |
| Hyperplasia of the maxilla 0.8395245170876675 1.7164270970705384 0.086083900591483 1.0 0.5127979213098374 2 Q9H7D7 1 |
| Spastic diplegia 0.4865023123061585 1.716084809493118 0.0861465210890477 1.0 0.5127979213098374 26 P07602,Q99720 2 |
| Avascular necrosis 0.4984499816366666 1.7149370810204494 0.0863567632217106 1.0 0.5128200885413567 24 Q8IWS0,O00754,Q9NUQ7,P01889,P51798,Q14108 6 |
| Abnormal foot bone ossification 0.8401976483621594 1.710345019687274 0.0872020914236575 1.0 0.5128200885413567 5 Q15125 1 |
| Babinski sign 0.3605919156040449 1.7065498804732455 0.0879057475829341 1.0 0.5128200885413567 92 P41229,O14773,P35251,P42858,Q99720,O00754,Q13501,P07602,Q93008,Q12768,P26358,P60891,Q9NZJ7,Q15043 14 |
| Platyspondyly 0.4339489545254568 1.7063251878496757 0.087947550974456 1.0 0.5128200885413567 38 Q9NZC9,Q14739,P04066,P16278,O00754,Q9NUQ7,Q8IY37 7 |
| Urinary incontinence 0.4175004536601495 1.706068749779871 0.0879952800993622 1.0 0.5128200885413567 45 O75962,Q99720,P07686,P15289,Q13501,Q8WVX9,P07602,Q93008,Q12768,P26358,Q9H2P0,Q9NZJ7 12 |
| Submucous cleft of soft and hard palate 0.4849330028202041 1.704400079833723 0.0883063690271142 1.0 0.5128200885413567 26 Q15392,P62266,Q14118,Q8WYQ5 4 |
| Abnormal serum insulin like growth factor 1 level 0.8368499257057955 1.7042535811659556 0.0883337229516363 1.0 0.5128200885413567 2 O00170 1 |
| Adrenocorticotropin deficient adrenal insufficiency 0.8368499257057955 1.7042535811659556 0.0883337229516363 1.0 0.5128200885413567 2 O00170 1 |
| Abnormality of the diaphragm 0.4732236986481563 1.699128674233468 0.0892949417100297 1.0 0.5128200885413567 28 O60216,Q9UBM7,Q9Y4A5,Q96ST3,Q8IYB7,Q6KC79,P53701,P08243,Q8N3U4,Q2M1P5 10 |
| Abnormal circulating igg level 0.5611003465631104 1.6979104083273358 0.0895246725094325 1.0 0.5128200885413567 14 P54132,P49327,P13051,Q15904,Q96HA7,P18583 6 |
| Heparan sulfate excretion in urine 0.9272212887690904 1.69577487146245 0.0899285230600024 1.0 0.5128200885413567 3 P15586 1 |
| Neoplasm of the gastrointestinal tract 0.3440684074253096 1.6909692653965809 0.0908426728198488 1.0 0.5128200885413567 103 Q07864,P46777,Q07020,Q9NWH9,P62899,P61313,P62847,P18077,P16455,P42345,Q6PGP7,P42892,P07602,P42766,P11717,P63167,P61353,Q9NZJ7 18 |
| Positive romberg sign 0.7186564501661902 1.690614324167537 0.0909104870755714 1.0 0.5128200885413567 6 P35251,Q8IV08 2 |
| Focal cortical dysplasia type ii 0.8335809806835071 1.6893672996205145 0.0911490635546266 1.0 0.5128200885413567 2 P42345 1 |
| Hemimegalencephaly 0.8335809806835071 1.6893672996205145 0.0911490635546266 1.0 0.5128200885413567 2 P42345 1 |
| 2 3 toe syndactyly 0.4457999280157901 1.688903089871446 0.0912380030495678 1.0 0.5128200885413567 34 Q9UBM7,Q15125 2 |
| Metatarsus valgus 0.8329866270430912 1.6866598400525827 0.0916687784336582 1.0 0.5128200885413567 2 Q14118 1 |
| Large basal ganglia 0.5216693116510183 1.68662276915644 0.0916759109307294 1.0 0.5128200885413567 19 Q9NZ01,Q96N66,Q9NUQ7,Q9ULK4,Q2M389 5 |
| Gingival overgrowth 0.4712071674195859 1.6835472316182127 0.0922692040745705 1.0 0.5128200885413567 28 Q9UBM7,Q14739,P16278,O00754,Q93008 5 |
| Peripheral demyelination 0.5209933214846038 1.6821985530044423 0.0925303446297189 1.0 0.5128200885413567 19 P60891,P07602,P15289,Q9NZJ7 4 |
| Abnormality of pulmonary circulation 0.4399640971849819 1.6813498727414342 0.0926949760175839 1.0 0.5128200885413567 35 Q9NZC9,Q8IZA0,P01889,P51798,Q96HP0,Q14108,P51970 7 |
| Tissue ischemia 0.4937175281583008 1.680978281177539 0.0927671332582273 1.0 0.5128200885413567 24 P06280,P01889,P05067 3 |
| Muscle flaccidity 0.923465179687758 1.6808745631257629 0.0927872817212125 1.0 0.5128200885413567 3 P13473 1 |
| Abnormal atrioventricular conduction 0.5683276660223118 1.6793065542340138 0.0930923142928166 1.0 0.5128200885413567 13 P06280 1 |
| Bone marrow foam cells 0.9229295423637076 1.678748929226937 0.0932009856545947 1.0 0.5128200885413567 3 P61916 1 |
| Abnormal bone structure 0.3978637397409627 1.6781676200424411 0.0933143810014698 1.0 0.5128200885413567 177 Q15392,Q9UBM7,Q15125,P07602,Q9H490,P06280,Q14108,P53634,Q9NZJ7,Q14739,P16278,O00754,Q9NUQ7,Q8NCM8,Q93008,P51798,P54802,O75531,Q9HC21,Q15043,P27635,Q96HA7,Q14692,O43933,Q9NZC9,O00170,Q13510,Q13501,Q9H9Y6,Q2M1P5,Q8IY37 31 |
| Leukopenia 0.3963072854413998 1.678057344757643 0.0933359047675796 1.0 0.5128200885413567 53 Q07020,P62899,P61313,P62847,P18077,Q15904,P61353,P42766,Q96HP0,Q14108 10 |
| Absent epiphyses 0.6693563496619461 1.6759667715656523 0.0937447014067647 1.0 0.5128200885413567 8 Q9NZC9 1 |
| Abnormal brain choline level by mrs 0.9221506601764832 1.67565765385834 0.0938052688496502 1.0 0.5128200885413567 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.9221506601764832 1.67565765385834 0.0938052688496502 1.0 0.5128200885413567 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.9221506601764832 1.67565765385834 0.0938052688496502 1.0 0.5128200885413567 3 P07602 1 |
| Developmental regression 0.3672532955028427 1.6741670900676608 0.094097765378079 1.0 0.5134513042754569 134 O43933,Q9NZC9,O14773,O75503,P42858,O76075,P07686,Q13510,Q96F07,P17900,P07602,P01889,P06280,Q9NZJ7 14 |
| Respiratory tract infection 0.3906466411765339 1.670998691364484 0.0947219362938613 1.0 0.5143771549906551 167 Q07864,Q9Y2Q5,P04066,Q12965,P15586,Q9Y4I1,P07602,Q15833,P60891,Q9H2P0,P53634,Q9NZJ7,P41229,O00203,O00462,P16278,O00754,P13051,Q93008,P51798,P54802,P10253,O14617,P02786,Q9NPL8,P01889,Q92621,Q96HA7,Q13510,P78527,Q12768,P14174 32 |
| Thickened ribs 0.9506393101397504 1.6682703787417914 0.095262065332605 1.0 0.5143771549906551 4 O00754,P15586,P54802 3 |
| Angiokeratoma 0.9506393101397492 1.6682703787417867 0.0952620653326059 1.0 0.5143771549906551 4 O00462,P04066,P06280 3 |
| Cortical dysplasia 0.4433413126102903 1.6681112508598546 0.0952936441487239 1.0 0.5143771549906551 34 Q9NZ01,Q6P1N0,Q96N66,Q9NUQ7,P42345,P08243,P49815,O43505,Q2M389,Q9ULK4 10 |
| Agnosia 0.6434227642471212 1.6677071921811533 0.095373866982565 1.0 0.5143771549906551 9 P40692,O96008,P05067 3 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9196639695792236 1.6657856360889551 0.0957561180807859 1.0 0.5145394549445232 3 O14773 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.617983161695847 1.6656889292289323 0.0957753881416683 1.0 0.5145394549445232 10 P07602,O75165,P15289,Q9NZJ7 4 |
| Patent ductus arteriosus 0.3539497857694545 1.665367675108529 0.0958394243612732 1.0 0.5145394549445232 94 Q15392,Q9UBM7,Q86V48,O43933,Q9Y4A5,P46777,Q6PGP7,P42892,Q93008,Q12948,Q6ZXV5 11 |
| Pleural effusion 0.5446808017120813 1.6647765338886371 0.0959573472654122 1.0 0.5145394549445232 15 P01889,Q14739 2 |
| Generalized clonic seizure 0.7126428203987394 1.6641230746013056 0.0960878367094819 1.0 0.5146455678138037 6 P07602 1 |
| Breech presentation 0.6905877514449066 1.661957164728155 0.0965213634977248 1.0 0.5163726339481277 7 Q9UBM7 1 |
| Hepatic fibrosis 0.4471119181997062 1.6599976781339654 0.0969149196304905 1.0 0.5169075364587589 33 O43933,Q9NWH9,Q13510,Q6PGP7,P28288,Q15904,Q8NCM8,Q96HP0 8 |
| Juvenile aseptic necrosis 0.8272055490664032 1.6580749085449835 0.0973023476695442 1.0 0.5172542148391739 5 Q9NUQ7,Q8IWS0 2 |
| Aortic valve stenosis 0.5542498345077663 1.6577491936177329 0.097368099993321 1.0 0.5172542148391739 14 Q12768,Q15125 2 |
| Macular degeneration 0.575689361489638 1.657351813162423 0.0974483675867476 1.0 0.5172542148391739 12 P04439,P50897 2 |
| Relative macrocephaly 0.4371009397964814 1.656719288684415 0.0975762414312659 1.0 0.5172542148391739 35 Q07864,Q15392,P48651,O75648,P42858,Q99575,Q12830,O14802,Q7Z6Z7,Q93008,Q9BZG8,Q96HA7,P18583 13 |
| Abnormal neutrophil count 0.3820088794831741 1.654225961858691 0.0980816097280354 1.0 0.5193410064073314 73 Q9Y2Q5,P50851,Q07020,P26038,P40763,Q15833,P61353,O00203,Q14739,P46777,P18077,P42766,O14617,P19447,P02786,Q14980,P62899,P61313,P62847,P61619,P62244,Q96HA7,Q9NVI1,Q9NZC9,Q9Y3C6,P49327,O75533 27 |
| Recurrent bacterial infections 0.5162429264250165 1.6510624926897486 0.0987258150131042 1.0 0.5211567504960563 19 Q15904,P53634,P13051,O00754 4 |
| Inappropriate behavior 0.5153506394776123 1.6452052525552363 0.099927490708578 1.0 0.523261510944026 19 P07602,Q9NZJ7,P17900 3 |
| Oromandibular dystonia 0.7083072998223792 1.6449910533853347 0.0999716560772085 1.0 0.523261510944026 6 Q99720 1 |
| Recurrent otitis media 0.4714547982429363 1.6430182384144654 0.100379159774862 1.0 0.523261510944026 27 Q9UBM7 1 |
| Aplasia hypoplasia affecting the fundus 0.4658972107334454 1.6424239507955114 0.1005021747115129 1.0 0.523261510944026 28 O75970,O14802,Q9Y4I1,Q12948,Q00839,Q9BZH6,P60891,P37268 8 |
| Cerebral dysmyelination 0.6861620708773004 1.6418127614739195 0.1006288135308401 1.0 0.523261510944026 7 P07602 1 |
| Central apnea 0.6613678545715389 1.6382360136533498 0.1013724696991498 1.0 0.5240318317918443 8 P07602 1 |
| Aplasia hypoplasia affecting the eye 0.3459690918129869 1.6378956254611143 0.101443468681871 1.0 0.5240318317918443 110 Q9UBM7,Q15125,O14802,Q9BXW9,Q9Y4I1,Q9UBC2,Q5SRE5,Q9BZH6,P60891,Q8WXI9,Q96CW1,P37268,Q9UIG0,Q00839,O43505,A6NHR9,O15347,Q14118,P19447,Q71SY5,Q8IYB7,Q12948,Q96HA7,Q9NVI1,O75970,P11166,Q9Y4P3,Q9H9Y6,Q96EB1,Q96I36,Q2M1P5,Q96HP0,P18583 33 |
| Enlarged posterior fossa 0.389992207736421 1.6376195935688105 0.1015010731461649 1.0 0.5240318317918443 60 Q9UBM7,P19022,Q15125,O00754,Q12948,Q93008,Q8NCM8,Q9H490,Q9NPL8,Q12768,Q14118 11 |
| Optic nerve dysplasia 0.8219910846953943 1.6365276527771422 0.1017292031461241 1.0 0.5240318317918443 2 O43505 1 |
| Sparse eyelashes 0.5180730758249431 1.6362585353734218 0.1017854902361874 1.0 0.5240318317918443 18 P48449,P46778,Q15125,P62304,O75531 5 |
| Tetraparesis 0.4287842774328098 1.628231833384136 0.1034757372434467 1.0 0.5303844569402247 36 O95630,P43034,P17900,Q8WVX9,P07602,Q13501,P60891,Q9NZJ7 8 |
| Aplasia hypoplasia of the cerebellar vermis 0.3742552797207031 1.626081675980647 0.1039322815452334 1.0 0.5315524498391534 78 Q9UBM7,Q9Y4A5,Q9BSV6,Q15125,O14802,Q9NWX6,P42356,P43034,Q12948,P78527,Q8NCM8,Q9H490,Q12768,Q93008,Q2M1P5,Q8WVX9,Q9HC21,Q14118 18 |
| Retinal pigment epithelial mottling 0.8193164933135221 1.6243217254610387 0.1043071628851257 1.0 0.5318864764976508 2 Q9UG56 1 |
| Aplasia hypoplasia of fingers 0.3396158016794399 1.623562576306539 0.1044691979731531 1.0 0.5318864764976508 100 Q9UBM7,P41229,P46777,Q07020,Q13510,P62899,P61313,P62847,P18077,P27635,P42345,Q8IWS0,Q93008,P42766,P51798,O00443,Q96HP0,P61353 18 |
| Abnormal hemoglobin 0.4687748971976723 1.6225849702337858 0.1046781555554809 1.0 0.5318864764976508 27 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Pseudobulbar signs 0.5795361304469882 1.6183334727596763 0.1055907507240196 1.0 0.5340177408568056 11 P42356,P17900 2 |
| Absent or minimally ossified vertebral bodies 0.907681381339707 1.6181614480090127 0.1056278087366431 1.0 0.5340177408568056 3 Q14739 1 |
| Myoclonic seizure 0.3896756328497529 1.617396519437308 0.1057927165689649 1.0 0.5340177408568056 56 O14617,O75503,Q9BSV6,P07686,Q13510,P16278,Q96N66,P07602,P67870,Q9NZJ7 10 |
| Sprengel anomaly 0.4505700409015754 1.6156028327039158 0.1061802110749268 1.0 0.5342839836188241 31 P19022,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Delayed epiphyseal ossification 0.7013556851897029 1.6142584239904247 0.1064713841582536 1.0 0.5342839836188241 6 Q96HA7,Q2M1P5,Q9UG56 3 |
| Progressive muscle weakness 0.5562697236583976 1.6102361102239011 0.1073463209801595 1.0 0.5371938064981286 13 P60891 1 |
| Scarring 0.445368129696723 1.6081899216632902 0.1077935897828585 1.0 0.5380009465477421 32 Q15125,P04439,Q6P2Q9,Q07954,Q92542 5 |
| Kyphosis 0.3768283251423158 1.605105844279916 0.108470513365696 1.0 0.5380009465477421 154 Q9UBM7,Q99575,P04066,Q15125,P60891,Q14108,Q14739,P16278,O00754,Q9NUQ7,Q5KU26,Q8IWS0,Q13155,P01889,Q96HA7,Q9NZC9,Q86V48,O00170,P42858,P10412,Q12768,O00443 22 |
| Unusual infection by anatomical site 0.52339536925556 1.604786244925865 0.1085408540913797 1.0 0.5380009465477421 16 P02786,Q14739 2 |
| Enlarged thorax 0.5165289563203483 1.602317677408854 0.1090853785762686 1.0 0.5380009465477421 17 Q99575,Q14739,P04066 3 |
| Abnormal circulating igm level 0.5341249830446306 1.6009817447436887 0.1093809625045452 1.0 0.5380009465477421 15 P54132,Q9Y2Q5,P50851,P49327,P13051,Q15904 6 |
| Visual hallucinations 0.6977090151740568 1.598109912819104 0.110018517894924 1.0 0.5380009465477421 6 Q04637,P04062,Q6Y7W6,Q9Y3I1,O75165 5 |
| Global brain atrophy 0.4988595863806385 1.5948995957351055 0.1107346900574759 1.0 0.5380009465477421 21 P07602,Q9NZJ7,Q13501 3 |
| Abnormal csf protein level 0.5534687378205864 1.594138454772905 0.1109050275632888 1.0 0.5380009465477421 13 P07602,P15289,Q9NZJ7 3 |
| Increased intracranial pressure 0.493867918959999 1.594017167115832 0.1109321899091269 1.0 0.5380009465477421 22 P07602,P01889 2 |
| Abnormal vagina morphology 0.4986994942300346 1.593806726280667 0.1109793305526531 1.0 0.5380009465477421 21 Q9UBM7,Q8NCM8,Q8IY37,Q9H9Y6 4 |
| Lower limb asymmetry 0.6517476796036136 1.592651466216017 0.1112384009989517 1.0 0.538134574655699 8 Q93008,Q86V48 2 |
| Dermatological manifestations of systemic disorders 0.3724355201158659 1.591271029495846 0.1115485936792739 1.0 0.5385144465368064 77 P04066,Q14739,Q15904,O15118,P60891,P61916 6 |
| Cerebellar cyst 0.3999946402456864 1.589650655522495 0.1119135720955142 1.0 0.5396743884978439 47 Q9UBM7,Q9BSV6,Q15125,Q8NCM8,Q93008,Q12768,Q96HP0,Q14118 8 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.6744149319225446 1.5881960038812002 0.112242024466195 1.0 0.5396743884978439 7 Q9NZC9 1 |
| Holoprosencephaly 0.5421339464731274 1.5864068418759691 0.1126470493805769 1.0 0.5396743884978439 14 Q9UBM7 1 |
| Bone fracture 0.694870893068666 1.5855294925838996 0.1128460815318541 1.0 0.5396743884978439 6 P51798,Q13501 2 |
| Sarcoma 0.3816373592381727 1.5845624186847138 0.1130657892873521 1.0 0.5396743884978439 66 Q15392,Q07954,Q07020,P62899,P61313,P62847,P18077,Q13501,P42766,P63167,P61353 11 |
| Oral pharyngeal dysphagia 0.5312885634097928 1.583787264270128 0.1132421384617567 1.0 0.5399617453422639 15 Q9BSV6,P42858,Q14204,Q13510,P67870 5 |
| Ventricular preexcitation 0.8075559420005595 1.5787071640684922 0.1144032408292439 1.0 0.5437043014104382 5 P13473 1 |
| Abnormal scapula morphology 0.3898789538015375 1.5760420891127964 0.1150161036905426 1.0 0.5439050350614221 50 P19022,Q14739,Q07020,P62899,P61313,P62847,P18077,Q13501,P42766,P61353 10 |
| Horizontal nystagmus 0.4852505442576728 1.5751330105519648 0.1152257458659622 1.0 0.5439050350614221 23 P07602,O14773 2 |
| Abnormal cerebellar vermis morphology 0.3568091855197869 1.5749829769645842 0.1152603739140412 1.0 0.5439050350614221 88 Q9UBM7,Q9Y4A5,P42858,Q9BSV6,Q15125,P42356,Q9Y4I1,P78527,Q8NCM8,Q9H490,Q12768,Q93008,Q12948,Q9HC21,Q14118 15 |
| Nephropathy 0.4789721796454262 1.5745685415431387 0.1153560689547348 1.0 0.5439050350614221 24 Q8NCM8,Q14108,Q9NZC9,P06280 4 |
| Exercise induced muscle cramps 0.6914295808466908 1.570261132903631 0.1163543724505258 1.0 0.5463954318409037 6 P13473 1 |
| Lewy bodies 0.6457566551689438 1.5641859363801294 0.1177739089666092 1.0 0.5500166659217793 8 Q709C8,Q04637,P04062,Q6Y7W6,Q9Y3I1,O75165 6 |
| Spastic hyperactive bladder 0.6892449166890159 1.560560344358309 0.1186275215078436 1.0 0.5519829738366029 6 Q6Y7W6,O75165,Q04637,P04062 4 |
| Abnormal granulocyte count 0.3697544246564485 1.5596336646041316 0.1188464763280476 1.0 0.5519829738366029 77 Q9Y2Q5,P50851,Q07020,P26038,P40763,Q15833,P61353,O00203,Q14739,P46777,P18077,P42766,O14617,P19447,P02786,Q14980,P62899,P61313,P62847,P61619,P62244,Q96HA7,Q9NVI1,Q9NZC9,Q9Y3C6,P49327,O75533 27 |
| Abnormality of the metacarpal bones 0.4175244030633789 1.5596175735718123 0.1188502810949536 1.0 0.5519829738366029 38 Q9UBM7,Q14739,P16278,Q2M1P5,P51798,Q96HP0 6 |
| Abnormal delivery 0.4976823820029092 1.556303733325003 0.1196358841083617 1.0 0.5523209783711758 20 Q9UBM7 1 |
| Abnormal cornea morphology 0.3779966753373172 1.5538877835897154 0.1202111862331467 1.0 0.5536728297074435 161 O43933,Q9UBM7,Q9NZC9,P42858,P10619,Q14739,P04066,Q15125,Q13510,Q2TAA5,P16278,O00754,P10412,P01889,Q6P2Q9,Q8WYQ5,P06280 17 |
| Irritability 0.3620999903487892 1.5535743234050785 0.1202859879553706 1.0 0.5536728297074435 83 Q5KU26,P50897,P42858,Q13510,Q13501,P07602,P01889,P26358,Q92621,Q9HC21,Q9NZJ7,P37268 12 |
| Duplication of thumb phalanx 0.4540805263791281 1.5504403510179463 0.1210358598978704 1.0 0.5554745435984204 28 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Abnormal branching pattern of the aortic arch 0.8901809902210162 1.548468976876906 0.1215094253381221 1.0 0.5556100496568657 3 Q8WYQ5 1 |
| Impaired t cell function 0.5561648074714054 1.548169222442216 0.1215815593903055 1.0 0.5556100496568657 12 Q8WYQ5 1 |
| Dermal atrophy 0.4688941727593236 1.5480347711814453 0.1216139251321217 1.0 0.5556100496568657 25 Q15392,Q07954,P53634 3 |
| Microcornea 0.4537296189464949 1.547699366471044 0.1216946947045658 1.0 0.5556100496568657 28 P19447,Q15125,Q71SY5,Q6KC79,P36404,O43505,O15347,Q14118 8 |
| Bifid uvula 0.4125912925649697 1.5319461343006249 0.1255357276787003 1.0 0.5626419608120896 39 Q15392,P46777,Q6PGP7,Q93008,P62266,Q14118 6 |
| Shoulder girdle muscle weakness 0.542660628319837 1.5318466040496392 0.1255602925403336 1.0 0.5626419608120896 13 P07602 1 |
| Delayed ossification of carpal bones 0.8859251099351803 1.531500490736858 0.1256457452347557 1.0 0.5626419608120896 3 Q9NUQ7 1 |
| Flattened epiphysis 0.6824888804546934 1.5305232824591408 0.1258872549769383 1.0 0.5626419608120896 6 Q9NUQ7 1 |
| Spastic tetraparesis 0.4660695519065782 1.5270783480036427 0.1267415302704226 1.0 0.5626419608120896 25 O95630,P43034,P17900,P07602,P60891,Q9NZJ7 6 |
| Abnormality of neutrophils 0.3434946743507815 1.5264057891367773 0.1269088368010209 1.0 0.5626419608120896 94 Q9Y2Q5,P50851,Q07020,P26038,P40763,Q15833,P61353,O00203,Q14739,P46777,P18077,P42766,O14617,P19447,P02786,Q14980,P62899,P61313,P62847,P61619,P62244,P01889,Q96HA7,Q9NVI1,Q9NZC9,Q9Y3C6,P49327,Q14126,O75533,Q9BUR4,P35579 31 |
| Fetal ultrasound soft marker 0.5007865704767108 1.5240798519698824 0.1274887650776186 1.0 0.5626419608120896 18 O43933,Q12768,Q15125 3 |
| Frequent falls 0.4150659347583798 1.5218618215102997 0.1280437071497506 1.0 0.5626419608120896 37 Q04637,Q14204,Q13510,P15289,P27635,P07602,O75165,Q9NZJ7 8 |
| Interictal eeg abnormality 0.3494616740031357 1.5197800376326356 0.1285662678621935 1.0 0.5629115907933505 90 Q9NZ01,O75503,Q2TAA5,Q13155,P42356,Q96F07,Q96N66,P27635,Q9NUQ7,P08243,Q9ULK4,Q2M389,P60891,Q14108,Q14118 15 |
| Reduced renal corticomedullary differentiation 0.7964338781575043 1.5197552966738417 0.1285724881855212 1.0 0.5629115907933505 2 O60231 1 |
| Abnormal renal corticomedullary differentiation 0.7964338781575043 1.5197552966738417 0.1285724881855212 1.0 0.5629115907933505 2 O60231 1 |
| Aplasia hypoplasia of the skin 0.3794209807492166 1.5196880452214676 0.1285893975957277 1.0 0.5629115907933505 59 Q15392,Q15125,Q6ZXV5,Q96HP0,Q07954,Q14692,P53634 7 |
| Abnormal renal pelvis morphology 0.3781991252214928 1.5156648402206587 0.1296041224364243 1.0 0.5653307336395315 61 O43933,Q9UBM7,Q86V48,Q9Y4A5,Q15125,Q12768 6 |
| Lumbar hyperlordosis 0.4956312978753339 1.5150883533045336 0.1297500307148591 1.0 0.5653307336395315 19 Q9NZC9,Q14118,P04066 3 |
| Jaundice 0.3776107846208728 1.51448260507126 0.1299034823729263 1.0 0.565435192324813 62 Q14739,Q15904,O15118,P60891,P61916 5 |
| Keratoconjunctivitis 0.5604328843550693 1.5139815541341457 0.1300305179310168 1.0 0.565435192324813 11 P49327,P50747,Q14739,P01889 4 |
| Motor seizure 0.3386411607685147 1.5126506556320904 0.1303684197863568 1.0 0.565435192324813 112 O75503,Q96N66,P07602,P67870,Q9NZJ7,P16278,P42356,Q9NUQ7,P43034,Q2M389,O14617,Q9NZ01,Q9BSV6,Q14204,P27635,Q8WVX9,Q9ULK4,Q9UBX3,Q9NZC9,P19022,P07686,Q13510,Q6P1N0,Q8IY37 24 |
| Abnormal levels of alpha fetoprotein 0.6349286885956935 1.5125967083516425 0.1303821308178532 1.0 0.565435192324813 8 P60891 1 |
| Allergy 0.6576632709884371 1.5113937684923706 0.1306881560776278 1.0 0.566153073244397 7 P42345 1 |
| Elevated circulating alanine aminotransferase concentration 0.5495510624576301 1.5109891154782975 0.1307912240620525 1.0 0.566153073244397 12 Q15904 1 |
| Facial hemangioma 0.7904579602345212 1.509379579691 0.1312018084532646 1.0 0.5674020534876535 5 Q9UBM7 1 |
| Osteosarcoma 0.4538874315633002 1.508506369101779 0.1314249778231624 1.0 0.5678089379746315 27 Q07020,P62899,P61313,P62847,P18077,Q13501,P42766,P61353 8 |
| Short ribs 0.6339774145129378 1.5080561185219403 0.1315401648093521 1.0 0.5678089379746315 8 Q14739 1 |
| Abnormality of earlobe 0.4532749593767908 1.5037936476177662 0.1326345073319843 1.0 0.5705406818405477 27 Q15392 1 |
| Retrognathia 0.3511852578290174 1.503373175909536 0.1327428397359089 1.0 0.5705406818405477 88 Q15392,P80404,O14617,Q2TAA5,P46777,Q15125,P27635,Q9H9Y6,Q2M1P5,Q8WYQ5,P37268,O00443 12 |
| Aplasia hypoplasia of the eyebrow 0.4068806199285363 1.4974867158974838 0.134266659588004 1.0 0.5705406818405477 40 P48449,P46778,O43933,Q9H7D7,Q07954,Q15125,O14802,Q71SY5,Q8N3U4,P62304,Q02750,Q5SRE5,O75531,P18583,Q9BTW9,Q96EK5 16 |
| Disproportionate short trunk short stature 0.6749726790955972 1.4970431616198272 0.1343820276651752 1.0 0.5705406818405477 6 Q9NZC9 1 |
| Thoracolumbar kyphosis 0.7865085226911982 1.4933354593142978 0.135349398060018 1.0 0.5732226762876528 5 O00754 1 |
| Abnormal large intestine physiology 0.4839199599027504 1.4925387966307404 0.1355579544379281 1.0 0.5732226762876528 21 P07602,P06280 2 |
| Volvulus 0.6534003248903557 1.4917902307183588 0.1357541457896627 1.0 0.5732226762876528 7 O60216,P46100,Q8IYB7,Q6KC79 4 |
| Abnormal pyramidal sign 0.3524918019678422 1.4901660882579666 0.1361805706118457 1.0 0.5737938201692714 132 P41229,O14773,P35251,P42858,Q99720,P04066,O00754,P17900,P07602,P01889,Q12768,P26358,P60891,Q9NZJ7 14 |
| Hypoplasia of penis 0.3354294275335552 1.4898675642138406 0.1362590616190311 1.0 0.5737938201692714 110 Q07864,Q9UBM7,O43395,P42892,Q6P2Q9,Q9BZH6,P41229,Q9Y4A5,P43034,Q8NCM8,O43505,Q14118,Q8IWS0,Q14839,Q7Z6Z7,P48449,P19022,Q86V48,Q9H9Y6,P78527,Q92620,Q12768,Q8IY37,Q2M1P5 24 |
| Gastrointestinal carcinoma 0.4088680289860462 1.481716210551185 0.1384158219117179 1.0 0.5788449737614609 38 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P63167,P61353 9 |
| Thick eyebrow 0.3776370794125049 1.481570408084259 0.1384546377334361 1.0 0.5788449737614609 51 P41229,O00754,P15586,P04066 4 |
| Abnormal muscle glycogen content 0.67119314938824 1.4801839319426462 0.138824167318069 1.0 0.579117416876611 6 O75648,P46976,Q93100 3 |
| Red eye 0.4862466605883452 1.479190443035764 0.1390894230816439 1.0 0.579117416876611 20 P02786,Q14739 2 |
| Short foot 0.4255155859067497 1.478828051845166 0.1391862765055806 1.0 0.579117416876611 33 P41229,Q86V48,Q9Y4A5,P42858,Q8NCM8,Q93008 6 |
| Unusual infection 0.4106704572729646 1.4784503317610096 0.1392872820214417 1.0 0.579117416876611 222 Q07864,Q9UBM7,Q9H7D7,Q9Y2Q5,P04066,P15586,Q9Y4I1,P07602,Q13423,Q9H490,Q15833,P60891,Q9H2P0,P53634,Q9NZJ7,P41229,Q14739,O00462,P16278,O00754,P13051,Q15904,Q93008,P51798,P54802,P10253,O14617,P02786,Q9BSV6,P27635,Q9NPL8,P01889,Q8WYQ5,Q96HA7,Q9NZC9,O15143,Q13510,Q6PGP7,P78527,Q12768,O75962,P14174 42 |
| Monotonic speech 0.6503163446130098 1.4775944936268537 0.139516349086213 1.0 0.579117416876611 7 Q04637,P04062,Q6Y7W6,Q9Y3I1,O75165 5 |
| Abnormal speech prosody 0.6503163446130098 1.4775944936268537 0.139516349086213 1.0 0.579117416876611 7 Q04637,P04062,Q6Y7W6,Q9Y3I1,O75165 5 |
| Psoriasiform dermatitis 0.8703923900118873 1.4695225570954928 0.1416911081514629 1.0 0.5855306327076899 3 P10321,P01889 2 |
| Impaired pain sensation 0.4843731032816514 1.466519239046432 0.1425068837992329 1.0 0.586851285291838 20 P60891 1 |
| Abnormal femoral neck head morphology 0.3790697701649681 1.465523307590273 0.1427781981037326 1.0 0.5874122504285423 50 Q9NZC9,Q99575,Q14739,P04066,Q14839,P16278,O00754,Q9NUQ7,Q96HA7 9 |
| Abnormal sella turcica morphology 0.667778443067588 1.464939166203873 0.1429375158207069 1.0 0.5875477551286176 6 O00754 1 |
| Thrombocytosis 0.4318193435372437 1.4626940075364483 0.1435511266268567 1.0 0.5893397440202721 31 P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,P42766,P61353 9 |
| Abducens palsy 0.8953315492119964 1.4624168984736583 0.1436270015003158 1.0 0.5893397440202721 4 P07602,Q9H7D7,Q9NZJ7 3 |
| Apraxia 0.3716209298720341 1.460320572085987 0.144201990734631 1.0 0.5903058528810297 64 O14773,P42858,O14646,P42356,Q13501,P05067 6 |
| Polyhydramnios 0.3755663799180246 1.4600802643503767 0.1442680159257676 1.0 0.5903058528810297 51 Q9UBM7,Q14739,Q15125,Q6PGP7,P27635,Q2M1P5,P51798 7 |
| Osteopetrosis 0.8676849623199008 1.4587138007683742 0.1446438960373548 1.0 0.5903058528810297 3 Q15392 1 |
| Impaired proprioception 0.4142444206061147 1.458558339372987 0.1446867070980071 1.0 0.5903058528810297 35 O14773,Q8IV08,Q12768,P54802 4 |
| Biparietal narrowing 0.5776210123568075 1.4568739784428535 0.1451511701824104 1.0 0.5903058528810297 10 Q9UBM7,Q00839 2 |
| Posteriorly rotated ears 0.3370363099771062 1.4567094145451096 0.1451966098998489 1.0 0.5903058528810297 115 Q15392,Q9UBM7,O43933,Q86V48,Q9Y4A5,P19022,O75970,Q07864,P42892,Q93008,Q9H490,Q2M1P5,Q9H2P0,Q14118,P37268 15 |
| Abnormality of cardiovascular system electrophysiology 0.3320781038184953 1.453861526318281 0.1459847013609092 1.0 0.5905599606358111 109 O43933,P19022,O75531,P11310,Q99996,P42892,P07602,Q9H490,P01889,P06280,Q07954,P13473,P10253,Q9NZJ7,Q9BU61,P51970 16 |
| Abnormal saccadic eye movements 0.4515153592985382 1.4530462659091852 0.146210908731301 1.0 0.5905599606358111 26 O14773,Q8IV08,P51798 3 |
| Metaphyseal striations 0.7757424958763226 1.4495504995517587 0.1471839082776349 1.0 0.592431159811883 5 Q96HA7,Q9H7D7 2 |
| Hyperoxaluria 0.780980683506687 1.4490607422555988 0.1473206200996435 1.0 0.5924684799682031 2 O43933 1 |
| Congenital malformation of the great arteries 0.3410528387741946 1.4474148218410132 0.1477807769745818 1.0 0.5931302412496783 121 Q15392,Q9UBM7,O43933,Q86V48,Q9Y4A5,P46777,Q14839,Q6PGP7,P42892,Q93008,Q12948,Q6ZXV5,P01889,Q12768,Q8WYQ5,Q96HP0 16 |
| Beaking of vertebral bodies 0.6210443385630828 1.4462016022397604 0.148120664462694 1.0 0.5936318699026417 8 P04066 1 |
| Flattened femoral epiphysis 0.8643862615028094 1.4455430473973645 0.1483054106788555 1.0 0.593860339574504 3 Q9NUQ7 1 |
| Fasciculations 0.4167059034266642 1.4408879092145708 0.1496163524153986 1.0 0.5970790291616065 34 P07686,Q13510,P07602,P06280,Q9NZJ7 5 |
| Depressed nasal bridge 0.3811391495527653 1.440027655537981 0.1498595749215683 1.0 0.5973172002934399 178 Q15392,Q9UBM7,Q9H7D7,Q07020,P15586,Q9H490,P61353,P37268,Q9Y4A5,Q14739,P46777,P16278,O00754,P18077,Q8NCM8,Q93008,P42766,P62899,P61313,P62847,Q12948,Q96HA7,O43933,Q9NZC9,Q86V48,P19022,P42858,O75962,P42345,P62266,Q12768,O00443,Q96HP0 33 |
| Aplasia hypoplasia involving bones of the feet 0.3642643405703158 1.4397448687271228 0.1499395940508592 1.0 0.5973172002934399 72 Q9UBM7,P41229,Q9Y4A5,Q86V48,P42858,Q8IWS0,Q13510,Q8NCM8,Q93008,Q96HP0 10 |
| Displacement of the urethral meatus 0.3473062031769974 1.4387834373530113 0.1502118904637477 1.0 0.5978896222311328 130 Q9UBM7,Q07020,P61353,P37268,P46777,P18077,Q93008,P42766,P62899,P61313,P62847,P27635,Q12948,Q96HA7,P51970,O43933,P48449,Q86V48,Q6PGP7,P42345,Q12768,Q8IY37,Q2M1P5 23 |
| Aplasia hypoplasia of the retina 0.8884170116094623 1.4365915064836927 0.1508340983986396 1.0 0.5983171701836822 4 Q9Y4I1,Q12948 2 |
| Abnormality of endocrine pancreas physiology 0.7713772425310357 1.4317789518581847 0.1522070928448824 1.0 0.6017612448590458 5 Q8IYB7,P53985,Q14739 3 |
| Azoospermia 0.5062777910759992 1.43131161534828 0.1523409264510773 1.0 0.6017612448590458 15 Q658P3,P54132,P04062,Q9BXW9,Q13423,Q8IY37,Q9BZH6,Q9NVI1 8 |
| Keratitis 0.5155641185377867 1.4287105688855184 0.153087438837002 1.0 0.6022270947753907 14 Q14739 1 |
| Soft skin 0.6171971659754543 1.427760610726532 0.1533607738445954 1.0 0.6022270947753907 8 Q02809,O00754,P18583 3 |
| Aplasia hypoplasia involving the femoral head and neck 0.5445873291529806 1.426870140976641 0.1536173288847018 1.0 0.6022270947753907 11 Q14839,Q96HA7,Q99575 3 |
| Sparse eyebrow 0.4148138437382784 1.4246243690052207 0.1542658119245006 1.0 0.6024317683332158 34 P48449,P46778,Q07954,Q9H7D7,Q15125,O14802,Q71SY5,Q8N3U4,P62304,Q5SRE5,O75531,P18583,Q9BTW9,Q96EK5 14 |
| Abnormal number of granulocyte precursors 0.7756315007429426 1.4245885476674796 0.1542761724256482 1.0 0.6024317683332158 2 Q07020 1 |
| Anarthria 0.658708260646927 1.4243905238595111 0.1543334558151989 1.0 0.6024317683332158 6 Q99720 1 |
| Cerebral cortical atrophy 0.3280972134258405 1.4202210251000875 0.1555433444975189 1.0 0.6056289854011436 107 O75503,Q04637,O14802,P05067,Q9Y4I1,Q92917,Q9BTW9,O96008,Q9NW08,Q9Y4A5,Q9UIG0,O00754,Q9UPT5,Q6KC79,P43034,O75165,P26640,Q5KU26,Q709C8,P19447,P17480,Q7Z6Z7,Q16625,P51970,Q86V48,P42858,Q9Y4P3,Q13501,O94992,O95155,P00403,O75648,Q02750 33 |
| Nasogastric tube feeding 0.4468263795652101 1.4174324576310156 0.1563565286596608 1.0 0.6072694250114982 26 Q9NZ01,Q96N66,Q9NUQ7,Q9ULK4,Q2M389 5 |
| Heart block 0.4626259150240491 1.413596718775055 0.1574803452535609 1.0 0.6101051042365039 23 P19022,Q99996,Q9H490,P06280,Q07954 5 |
| Upper limb spasticity 0.6138928573013268 1.4119079405176485 0.1579770693902866 1.0 0.6103884993090519 8 Q99720 1 |
| Elevated serum acid phosphatase 0.8816813627791457 1.4114240959643896 0.1581196021502389 1.0 0.6103884993090519 4 P07602,Q9NZJ7 2 |
| Photophobia 0.4010571288341421 1.4111255871748134 0.1582075865646677 1.0 0.6103884993090519 38 P04439,P07602,P01889,Q6P2Q9,Q9NZJ7 5 |
| Bundle branch block 0.5126152184660521 1.411117508999028 0.1582099680936561 1.0 0.6103884993090519 14 P19022,Q9H490,P06280,Q99996 4 |
| Abnormal upper motor neuron morphology 0.5316009963080719 1.409646599290188 0.15864406001201 1.0 0.6105562141853358 12 O14802,Q99720,Q13501 3 |
| Keratosis pilaris 0.7723625557206546 1.409635188698396 0.1586474310036321 1.0 0.6105562141853358 2 Q07954 1 |
| Iris hypopigmentation 0.6354110997779234 1.408835695405298 0.1588837575574984 1.0 0.6109599577211001 7 O14617,Q9Y4I1,Q86V48 3 |
| Cataplexy 0.879551478026885 1.4034642906923502 0.1604784332377491 1.0 0.6125145896127167 4 P61916,O15118 2 |
| Colpocephaly 0.567318350296997 1.4031061438089338 0.160585189375098 1.0 0.6125145896127167 10 O75970,P53701,Q8N3U4,Q8IY37,Q9NVI1 5 |
| Abnormality of salivation 0.3784999341837486 1.4030377984304303 0.1606055678076794 1.0 0.6125145896127167 48 Q14739,P42356,P15586,Q13501,P01889,P60891 6 |
| Spotty hyperpigmentation 0.7705794947994065 1.4014797204821212 0.1610706676917859 1.0 0.6136717092714459 2 O75531 1 |
| Coloboma 0.3727553153095368 1.4006794255492283 0.161309957885239 1.0 0.6136906662917154 50 O75970,Q9UBM7,Q6KC79,Q9H9Y6,Q92620,O43505,Q12768,Q2M1P5,Q9H2P0,P60891,O15347,Q14118,Q96EK5 13 |
| Abnormal tracheobronchial morphology 0.3636624367903546 1.39865223871705 0.161917293110769 1.0 0.6150455062118885 68 Q9UBM7,Q9H7D7,Q9Y4A5,Q14739,Q15125,P46777,Q9H9Y6,Q93008,Q96HA7 9 |
| Myalgia 0.3961383806743055 1.398572822677783 0.1619411208519046 1.0 0.6150455062118885 40 P01889,Q14739,P06280 3 |
| Partial absence of thumb 0.7693907875185741 1.3960431734373928 0.1627014945439859 1.0 0.6151662140770181 2 O75962 1 |
| Aplasia of metacarpal bones 0.7693907875185741 1.3960431734373928 0.1627014945439859 1.0 0.6151662140770181 2 O75962 1 |
| Aplasia of the proximal phalanges of the hand 0.7693907875185741 1.3960431734373928 0.1627014945439859 1.0 0.6151662140770181 2 O75962 1 |
| Broad eyebrow 0.5192143096230849 1.3958608998262592 0.1627563870326376 1.0 0.6151662140770181 13 Q96C36,Q96ST3,Q12830,O14646,O14802,O75648,P18583 7 |
| Abnormal pulmonary interstitial morphology 0.4155476517360983 1.394508913988612 0.1631639795888291 1.0 0.615652043150093 33 Q13510,Q14108,P14174,Q8IZA0 4 |
| Difficulty walking 0.3586122450295566 1.3941172377641995 0.1632822046040147 1.0 0.615652043150093 74 O14773,P42858,Q99720,Q13510,Q96F07,Q13501,P07602,Q93008,Q12768,Q9HC21,Q9NZJ7 11 |
| Abnormal electroretinogram 0.4231276184431142 1.391321604042963 0.1641279254657217 1.0 0.6183393237359323 31 O43933,O14773,P50897 3 |
| Cardiac conduction abnormality 0.4300748595764182 1.3885818849097131 0.16495992901008 1.0 0.6209706153585929 29 P19022,Q07954,Q99996,Q9H490,P06280,O75531 6 |
| Agenesis of corpus callosum 0.3263966795014963 1.3877929057047078 0.1652001157042977 1.0 0.6213716326126861 98 Q15392,O14802,O14578,Q9BXW9,Q8N3U4,Q8NCM8,Q00839,O43505,Q9Y3D3,Q9HC21,Q14118,P80404,P19447,Q71SY5,Q8IYB7,Q9ULH0,Q9UQR1,Q9NVI1,O60231,Q86V48,P19022,Q9Y3C6,A5YKK6,P51532,P40692,Q2M1P5,O95155,P00403 28 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3361262908024752 1.3857439329213534 0.165825108016818 1.0 0.6219751038306187 92 Q9UBM7,Q86V48,P41229,P42858,Q9Y4A5,Q99575,Q8IWS0,Q13510,Q14839,Q8NCM8,Q93008,O00443,Q96HP0,Q96HA7 14 |
| Abnormal heart rate variability 0.8745793249995352 1.3848802031701577 0.1660891013487242 1.0 0.6219751038306187 4 P07602 1 |
| Abnormality of ocular smooth pursuit 0.4529196368453887 1.384583784607405 0.1661797725528695 1.0 0.6219751038306187 24 O14773,O00754 2 |
| Lower limb hyperreflexia 0.4757408250718959 1.3826859435989949 0.1667611837656168 1.0 0.6219751038306187 19 P41229 1 |
| Cerebral white matter atrophy 0.4526577419300203 1.3826629440675318 0.1667682391296487 1.0 0.6219751038306187 24 O75503,Q2TAA5,O00754 3 |
| Malabsorption 0.3674386239274346 1.381976385144614 0.1669789521026969 1.0 0.6219751038306187 56 O43933,Q14739,P42345,P01889,P06280 5 |
| Bilateral tonic clonic seizure 0.3358226071913673 1.3817342882513357 0.1670533021712745 1.0 0.6219751038306187 92 O14617,Q9H7D7,Q9BSV6,Q14739,P07686,Q13510,P27635,Q13501,P07602,Q00839,Q93008,P67870,P60891,P11310,Q9HC21,Q9NZJ7 16 |
| Underdeveloped nasal alae 0.4292103847393417 1.3816674650784018 0.1670738285312341 1.0 0.6219751038306187 29 P60891,Q5KU26,Q8WYQ5 3 |
| Abnormal pericardium morphology 0.5076704724232458 1.3815829701684166 0.1670997859076022 1.0 0.6219751038306187 14 P49815,P01889,P14174,Q14108,P47985 5 |
| Abnormal lung development 0.3736140002544455 1.380905682210788 0.1673079626093077 1.0 0.6222517745365371 49 O43933,Q9UBM7,Q14739,Q8NCM8,Q8WYQ5 5 |
| Middle age onset 0.562872148710459 1.3798544875806744 0.1676314521038457 1.0 0.6229027432279959 10 P07602 1 |
| Pulmonary hypoplasia 0.4416894684212269 1.3783351067309957 0.1680998488567826 1.0 0.6233109494629263 26 O43933,Q9UBM7,Q14739 3 |
| Tracheomalacia 0.4976234677548591 1.378240505573186 0.1681290450906667 1.0 0.6233109494629263 15 Q93008,Q9H7D7,Q9Y4A5,P46777 4 |
| Abnormal thrombocyte morphology 0.3473518871029575 1.3768611910902238 0.1685551678413452 1.0 0.6234656558815197 136 Q07020,P07602,Q15833,P61353,Q14108,Q9NZJ7,Q14739,P46777,P18077,Q15904,P42766,P51798,P02786,P62899,P61313,P62847,P01889,P47985,Q9NZC9,O15143,Q13510,Q6PGP7,P42345,Q96HP0,P35610,P35579 26 |
| Endocarditis 0.6478140966962035 1.37559367773659 0.1689474651537819 1.0 0.6234656558815197 6 P49327,P01889,P04062 3 |
| Sparse or absent eyelashes 0.4453548149598257 1.3725295320349415 0.1698986519177978 1.0 0.625298081802588 25 P48449,P46778,Q07954,Q15125,Q9H9Y6,O75531 6 |
| Shield chest 0.7567506419173626 1.3721714805998153 0.1700100613892172 1.0 0.625298081802588 5 P04066 1 |
| Toe walking 0.4450859606574284 1.3705147162955356 0.1705262847626749 1.0 0.6267009469262259 25 P07602,Q99720 2 |
| Erythema 0.4699027056324825 1.3683371402290936 0.1712065704067891 1.0 0.6287040646296702 20 P01889,Q15125 2 |
| Abnormality of the cerebrospinal fluid 0.3565902434287056 1.364324030847701 0.1724656058949498 1.0 0.6290474229299831 150 Q15392,Q9UBM7,Q15125,P07602,Q9H490,Q9NZJ7,O00754,Q00839,P26358,P51798,Q86Y39,Q9HC21,Q14118,Q9NPL8,Q9BU61,P51970,O75970,Q96I36,Q12768,Q96HP0 20 |
| Restrictive ventilatory defect 0.5329131557633915 1.362422356486598 0.1730646322310502 1.0 0.6290474229299831 11 P16278,P01889,P53621,P49815 4 |
| Deposits immunoreactive to beta amyloid protein 0.8433971357695803 1.3617299213112497 0.1732831347590884 1.0 0.6290474229299831 3 P05067 1 |
| Corpus callosum atrophy 0.4839767667636601 1.3567829720058835 0.1748501795586734 1.0 0.6315924822810324 16 O75503,O00754 2 |
| Abnormality of the carpal bones 0.4751849416657638 1.3564141249467 0.1749674415795596 1.0 0.6315924822810324 18 Q9NUQ7,Q15125 2 |
| Abnormality of hair texture 0.3650262112072228 1.354303327862054 0.1756396248885015 1.0 0.632493118595386 55 P46778,Q9NZC9,Q15125,P15586,P42345,Q93008,P62266,P51798,P54802 9 |
| Impaired visuospatial constructive cognition 0.622994258926236 1.351394083431388 0.176569228071902 1.0 0.6328992608375269 7 P00403,P42858,P11166 3 |
| Eeg with polyspike wave complexes 0.6226639328615584 1.3498642785417858 0.1770595217813544 1.0 0.6336729311910658 7 Q14108,P53007,P42356,P11166 4 |
| Torsion dystonia 0.8403199613190349 1.349445297813206 0.1771939794683557 1.0 0.6336729311910658 3 P11166 1 |
| Abnormal thyroid hormone level 0.7589895988112935 1.348493824731481 0.1774996050109645 1.0 0.6342779890053606 2 Q93008 1 |
| Eeg with focal spike waves 0.8397740784780003 1.347266231946401 0.1778945035460555 1.0 0.6343329022504554 3 Q14118,P11166 2 |
| Variable expressivity 0.3506184196892518 1.3442714272069376 0.178860631605416 1.0 0.6356994689724427 78 O75970,Q9H7D7,Q15125,Q13510,P17900,P43034,P07602,P60891,Q14118,Q9NZJ7,P11166 11 |
| Aplasia hypoplasia of the ear 0.3633281660694934 1.3432424044967937 0.1791934949949449 1.0 0.6356994689724427 58 Q07864,Q86V48,P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q9H9Y6,P42766,P61353 12 |
| Unexplained fevers 0.7495112212287762 1.3426431729546262 0.1793875436765641 1.0 0.6356994689724427 5 P07602 1 |
| Cleft lip 0.3636269768722456 1.3394585726482835 0.1804214322955033 1.0 0.6373702422050115 55 Q9Y4A5,P46777,Q07020,P62899,P61313,P62847,P18077,Q9H9Y6,Q8NCM8,P42766,P61353 11 |
| Multifocal epileptiform discharges 0.4128752601181377 1.3381659663124923 0.1808423407786992 1.0 0.6383720898103057 32 Q9NZ01,O75503,Q96N66,Q9NUQ7,Q9ULK4,Q2M389 6 |
| Slowly progressive 0.3634489513107216 1.337569369618071 0.1810368549541594 1.0 0.6384604647805792 55 Q8IV08,O14773,O00584,Q99720 4 |
| Femoral bowing 0.5973401100134773 1.3323257234320371 0.1827531778665552 1.0 0.6421916280435488 8 Q8NCM8,O00754 2 |
| Calvarial skull defect 0.5531983195444337 1.3291777917186232 0.1837893201605034 1.0 0.6422347739883006 10 Q96HP0,Q14739 2 |
| Abnormal endocardium morphology 0.4895178223372262 1.3284199231032374 0.184039421327488 1.0 0.6423417941077268 15 P06280 1 |
| Abnormality of the urethra 0.3473815852305198 1.3261094612903623 0.184803442680477 1.0 0.6431940358752289 141 Q9UBM7,Q07020,P61353,P37268,P46777,P18077,Q8NCM8,Q93008,P42766,P62899,P61313,P62847,P27635,Q12948,P01889,Q96HA7,P51970,O43933,P48449,Q86V48,Q6PGP7,P42345,Q12768,Q8IY37,Q2M1P5 25 |
| Progressive peripheral neuropathy 0.8576752917519933 1.3216926050207398 0.186270532139489 1.0 0.6443241844616702 4 P07602,Q9NZJ7 2 |
| Cerebellar malformation 0.3567890211323709 1.3209723071563468 0.1865105981095272 1.0 0.6446749223875032 68 Q9UBM7,Q9BSV6,Q15125,Q14839,O00754,Q8NCM8,Q93008,Q12768,Q96HP0,Q96HA7,Q14118,Q15043 12 |
| Dysgraphia 0.4720015197871116 1.3157986731949074 0.1882416247317051 1.0 0.6481471778984867 17 Q9UIG0,Q13501,P05067,P40692,O96008,P52701 6 |
| Dysarthria 0.3627895640193246 1.315471011663529 0.1883516535471834 1.0 0.6481471778984867 164 Q9NZC9,O14773,O75503,P35251,P07686,O00754,P15586,P07602,O15118,Q8IV08,P60891,P61916,Q14108,Q9NZJ7 14 |
| Perisylvian polymicrogyria 0.742579790561337 1.3143616936926203 0.1887245149745817 1.0 0.648949903932567 5 P42345 1 |
| Chronic fatigue 0.5500839060702871 1.312840300109627 0.1892367671083148 1.0 0.6502303993248749 10 P07602,Q9NZJ7 2 |
| Carcinoma 0.6328098785711357 1.3082555378757414 0.1907866503478894 1.0 0.6538414628100262 6 Q07864,P40692 2 |
| Abnormal intraocular pressure 0.6326024871869973 1.3073239492467403 0.1911027138022647 1.0 0.6539855986091544 6 P04439 1 |
| Erlenmeyer flask deformity of the femurs 0.8537747663708277 1.307114940389541 0.1911736778898345 1.0 0.6539855986091544 4 P07602,Q9NZJ7 2 |
| Aplasia hypoplasia of the lungs 0.4088478957205287 1.3044298433263004 0.192087065417631 1.0 0.6558844196966711 32 O43933,Q9UBM7,Q8NCM8,Q14739 4 |
| Tooth malposition 0.3202523401916326 1.302550605790124 0.1927282303798458 1.0 0.6563683205304086 98 Q9UBM7,P41229,Q9H7D7,O00170,Q8TC12,Q14739,P16278,Q13155,O00754,P27635,Q9H9Y6,Q93008,P51798,O75962,O75531 15 |
| Hyperkinetic movements 0.5126632689538615 1.302169376390263 0.1928584912550093 1.0 0.6563683205304086 12 P07602 1 |
| Delayed ability to sit 0.4598302325872886 1.2997101009098364 0.193700347092707 1.0 0.6577888339181847 20 O75962,P10253,Q9H7D7,Q14118 4 |
| Hypointensity of cerebral white matter on mri 0.6106791532174032 1.2943129628499883 0.1955573407051376 1.0 0.6620632848818571 7 P07602 1 |
| Juvenile cataract 0.7367891803381594 1.290731566307057 0.1967967748289263 1.0 0.6639391917123937 5 Q9H2P0,Q8TC12 2 |
| Meningitis 0.6280852042021072 1.287028351850691 0.1980844063043756 1.0 0.6657185461848856 6 P02786 1 |
| Mortality aging 0.3249850118511921 1.286684103477961 0.1982044160059362 1.0 0.6657185461848856 115 O43933,P80404,Q14739,P07686,P16278,P05067,Q15904,P07602,Q9NPL8,Q12768,P60891,Q9NZJ7 12 |
| Laryngomalacia 0.4728704123616805 1.2863338838144216 0.1983265619415071 1.0 0.6657185461848856 16 Q2M1P5,P07602,P27635,Q9NZJ7 4 |
| Abnormal localization of kidney 0.3553430927424427 1.285653144647309 0.1985641404709051 1.0 0.6658356284549153 65 Q9UBM7,P46777,Q07020,P62899,P61313,P62847,P18077,Q9BX67,Q00839,P42766,P61353 11 |
| Missing ribs 0.4916113815742786 1.285413331934388 0.1986478848498531 1.0 0.6658356284549153 14 Q86V48,Q14739 2 |
| Broad forehead 0.3781221183795549 1.2844396832729776 0.1989881554314831 1.0 0.6663301351209309 43 Q07864,P19022,O00170,O14802,Q6PGP7,O00754,P27635,Q9H490,Q12768,Q2M1P5,Q8IYA6 11 |
| Broad based gait 0.4335427673835855 1.2838330647714005 0.199200371646905 1.0 0.6663301351209309 25 O76075,O14773,P42858 3 |
| Generalized onset seizure 0.3208095601019108 1.2831301649252858 0.1994464772065416 1.0 0.6665899874429992 110 Q9NZ01,O75503,Q9H7D7,Q9BSV6,Q14204,Q13510,P16278,Q96N66,P27635,P42345,Q9NUQ7,P07602,Q93008,Q9ULK4,Q2M389,P67870,Q14108,Q9NZJ7 18 |
| Aphthous ulcer 0.5659294665803711 1.2826203205098674 0.1996251274275424 1.0 0.6666915400026026 9 P01889 1 |
| Aplasia hypoplasia involving the pelvis 0.4639247095294492 1.282225159285047 0.199763672880969 1.0 0.6666915400026026 18 Q14839,Q9NZC9,Q96HA7,Q99575 4 |
| Infectious encephalitis 0.5089142133119124 1.2808416273683418 0.2002492993023257 1.0 0.6678328496818595 12 Q14739,Q9Y4L1,P49327,Q9NZ08,P01889,Q15833 6 |
| Spinal muscular atrophy 0.5177987581382215 1.278720021414475 0.2009956666439398 1.0 0.6698414725646425 11 Q13510,Q99720 2 |
| Epiphora 0.7331465304098326 1.2758666504391698 0.2020026618189283 1.0 0.6716859973570255 5 Q07954 1 |
| Dysdiadochokinesis 0.4624615087453889 1.2725699878122794 0.2031706740999355 1.0 0.6719634142565561 18 P35251,O75503 2 |
| Maturity onset diabetes of the young 0.7423476968796441 1.272539255245375 0.2031815857815 1.0 0.6719634142565561 2 Q9UKG1 1 |
| Adrenal hypoplasia 0.5163889756654473 1.2709009983321329 0.2037638712212159 1.0 0.6719634142565561 11 O43933,Q12768,Q07864 3 |
| Short 1st metacarpal 0.6244436219889973 1.270662086413116 0.2038488890282379 1.0 0.6719634142565561 6 Q6KC79,Q9NVI1 2 |
| Abnormal aldolase level 0.8201935494280466 1.2691663328185656 0.2043817460253256 1.0 0.6719634142565561 3 Q14118 1 |
| Hypermetropia 0.3561570217656717 1.2688390043158464 0.2044984906700344 1.0 0.6719634142565561 59 Q9H7D7,O14802,Q9H490,Q9H2P0,Q8WXI9,P41229,Q9UIG0,O00754,Q15904,Q93008,Q02809,Q7Z6Z7,Q71SY5,P27635,Q9ULH0,Q9UQR1,Q86V48,Q9Y4P3,O95155 19 |
| Progressive spasticity 0.4700798856985788 1.2686071983488674 0.2045811956789336 1.0 0.6719634142565561 16 P07602,P15289,Q9NZJ7,P17900 4 |
| Micrographia 0.74145616641902 1.2684763427833778 0.2046278937891492 1.0 0.6719634142565561 2 Q96RL7 1 |
| Spontaneous recurrent epistaxis 0.74145616641902 1.2684763427833778 0.2046278937891492 1.0 0.6719634142565561 2 P35579 1 |
| Decreased testicular size 0.4366145136679268 1.264669999356493 0.2059896486557915 1.0 0.6724189792587563 24 P41229,P19447,Q8IWS0,Q8NI27,P46100,P27635,O43505,Q8IY37,Q9BZH6 9 |
| Neuronal loss in basal ganglia 0.7300621361525086 1.263280505088155 0.2064883897443583 1.0 0.6727151534138206 5 P42858 1 |
| Thickened nuchal skin fold 0.5053674940824651 1.2606534347556448 0.2074337376968633 1.0 0.6739059724337649 12 O43933,Q15125 2 |
| Hypohidrosis 0.5143839646112165 1.2597779402762233 0.2077494797910415 1.0 0.6739897638161564 11 P06280 1 |
| Abnormality of the wrist 0.3993236223487096 1.2565526228211017 0.2089156794919011 1.0 0.6758865650367769 33 Q13510,P16278,Q9NUQ7,Q15125 4 |
| Microretrognathia 0.4678227081738004 1.2542624320923994 0.2097466340616376 1.0 0.6780702524520061 16 Q2M1P5,P27635,Q16625,Q15125 4 |
| Left ventricular hypertrophy 0.4531199311396756 1.253888981923582 0.2098823603524278 1.0 0.6780702524520061 20 P06280 1 |
| Eeg with focal spikes 0.8382266809466805 1.2490385410475295 0.2116509776125159 1.0 0.681888700568667 4 O75503 1 |
| Abnormal uvula morphology 0.36781232416486 1.2473982583396177 0.2122515048581577 1.0 0.6833498934110631 46 Q15392,P46777,Q6PGP7,Q93008,P62266,Q14118 6 |
| Abnormal femoral head morphology 0.4387060082296215 1.241238247653088 0.2145177493879155 1.0 0.6872989685588634 23 Q9NZC9,Q99575,P16278,Q9NUQ7,Q96HA7 5 |
| Abnormality of central nervous system electrophysiology 0.3594149311481636 1.2406634920206998 0.2147300862716028 1.0 0.6872989685588634 167 O75503,Q15125,Q96N66,P07602,P60891,Q14108,Q9NZJ7,P50897,Q2TAA5,P42356,Q9NUQ7,Q00839,Q2M389,Q14118,O14617,Q9NZ01,Q8IWS0,Q13155,P27635,P08243,Q9ULK4,O43933,P48449,Q86V48,Q96F07,Q13501,Q96HP0 27 |
| Delayed puberty 0.3539677968946116 1.2347763246069836 0.2169137609660056 1.0 0.6899521831389894 52 Q9NW08,O00170,Q9NW13,Q8IWS0,O14802,P27635,P40763,Q93008,Q8IY37,Q15800,P06280,Q9BZH6,Q14108 13 |
| Oligodactyly 0.6159431451637931 1.232447032895495 0.2177821409532612 1.0 0.6911052377417825 6 Q9UBC2,Q6KC79 2 |
| Aplasia hypoplasia of the phalanges of the thumb 0.5092458877257673 1.231261010920227 0.2182252591837064 1.0 0.6915673005760403 11 A5YKK6,Q9BXW9,Q6KC79,O75962,Q9NVI1 5 |
| Joint stiffness 0.3520042913332952 1.2303155018575411 0.2185789815302636 1.0 0.6922164067671633 61 Q86V48,O00754,P15586,P01889,P54802 5 |
| Concave nasal ridge 0.832608473023154 1.228072410001037 0.2194197870210918 1.0 0.6926720713415025 4 Q15125 1 |
| Low hanging columella 0.4904620598526811 1.2279444168679496 0.2194678341763891 1.0 0.6926720713415025 13 O75962,Q13155,Q9UQR1,Q8IYA6 4 |
| Dilated fourth ventricle 0.360782665122769 1.2245942385892803 0.2207281397531511 1.0 0.6945070136024714 48 Q9UBM7,Q15125,Q8NCM8,Q93008,Q12768,Q14118 6 |
| Macrocytic anemia 0.3818544549696506 1.2234925901740774 0.221143701174596 1.0 0.6951298625832975 37 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Cervical spine instability 0.7313521545319475 1.2224866827015186 0.2215236369451891 1.0 0.6953558727105718 2 Q99575 1 |
| Atlantoaxial abnormality 0.7313521545319474 1.2224866827015182 0.2215236369451894 1.0 0.6953558727105718 2 O14802 1 |
| Specific learning disability 0.3437505973151592 1.2201240390139918 0.2224178569605579 1.0 0.6972492360145879 74 P54132,Q9Y4I1,Q8N3U4,Q96EK5,Q8TC12,P42356,O00754,P49815,O43505,Q14118,P48651,Q12830,Q8IYB7,Q8WYQ5,Q9UJX6,P11166,Q8IYA6,P42858,P04350,P00403,Q13501,P42345,P62266,O00443,O75962 25 |
| Abnormal metabolic brain imaging by mrs 0.4569049472725979 1.217771991424332 0.2233106306932728 1.0 0.6981879052060302 17 P07602,P35610,Q9NZJ7,Q9BU61 4 |
| Abnormality of fundus pigmentation 0.7184919532010225 1.2160815381062493 0.2239538626089094 1.0 0.6987661122609531 5 Q2M1P5,Q6P2Q9 2 |
| Abnormal uvea morphology 0.3164005442908311 1.20943402013264 0.2264961452287726 1.0 0.7045727153604555 111 Q9UBM7,P54132,P50851,Q9Y4I1,Q9UBC2,Q9H2P0,Q96EK5,O00203,Q9UIG0,P49815,O43505,A6NHR9,Q14118,P24386,P52701,O14617,P04439,Q8IYB7,Q12948,P01889,Q96HA7,Q9NVI1,O43933,O60231,Q86V48,O75970,Q9Y4P3,P49327,Q9H9Y6,Q96EB1,Q12768,O75533,O95155,P14174 34 |
| Respiratory distress 0.3512651792881319 1.2063882849564571 0.2276678109829017 1.0 0.7065605161945997 52 P50747,P04350,Q13510,Q13155,P07602,P53007,Q93008,P49815,Q9BU61,Q9H2P0,P10253,Q9NZJ7,P51970 13 |
| Autism 0.3564357810225505 1.2057645905297785 0.2279082722477077 1.0 0.7068349284053324 49 Q9UBM7,Q86V48,Q96F07,P41229 4 |
| Abnormal serum iron concentration 0.7158135167777843 1.2051604172840025 0.2281413797470293 1.0 0.706961283270533 5 Q658P3 1 |
| Substantia nigra gliosis 0.7271916790490349 1.2035842584460412 0.2287503067402343 1.0 0.707087883002227 2 P04062 1 |
| Abnormality of the axillary hair 0.7145282260170462 1.1999206835931966 0.2301701461896668 1.0 0.7077123079601594 5 P62304,Q8IY37 2 |
| Cerebellar hypoplasia 0.3331650937767214 1.1989629890290552 0.2305423372052857 1.0 0.7077501234221085 134 Q9UBM7,Q9H7D7,Q15125,O14802,Q9Y4I1,P53007,Q9H490,Q9Y4A5,Q9NWX6,P42356,P43034,Q9BX67,Q8NCM8,Q93008,Q9HC21,Q14118,P80404,Q9BSV6,Q14204,P27635,P08243,Q12948,Q8WVX9,Q9NXE4,Q16625,P78527,Q12768,Q8IY37,Q2M1P5,Q96HP0 30 |
| Fever 0.3219294941337434 1.1978911553355889 0.2309593934689162 1.0 0.7077501234221085 92 O14802,Q12965,P07602,Q15833,P06280,Q9NZJ7,Q14739,P49815,P10253,Q14980,Q8IYB7,P01889,Q92621,Q9NR50,Q14232,Q13510,P49770,P35610,P14174,Q9P2R3 20 |
| Prominent nasal bridge 0.3499181667468436 1.1937381805029383 0.2325804003714373 1.0 0.7118277033092905 55 P42892,Q15125 2 |
| Recurrent skin infections 0.4844609007278791 1.1928082962058528 0.2329444602365149 1.0 0.7120044678761065 13 O14802,P02786,O00203,P53634 4 |
| Abnormal vascular morphology 0.4046649536031037 1.1911056864818026 0.2336120977944185 1.0 0.7131074475681232 250 Q15392,Q9UBM7,Q9H7D7,Q07020,P05067,P42892,P07602,P61916,P61353,Q9NZJ7,Q9Y4A5,P46777,P16278,P18077,P17900,P06865,Q93008,P42766,P51798,O75531,P10253,P10619,Q14839,P62899,P61313,P62847,P27635,Q12948,Q6ZXV5,O15118,P01889,Q8WYQ5,Q96HA7,P47985,O43933,Q9NZC9,Q86V48,P19022,P42858,O15143,P07686,Q13510,Q6PGP7,Q12768,Q96HP0 45 |
| Congenital malformation of the left heart 0.7116034662554179 1.18799989396122 0.2348334514736232 1.0 0.7154264193321588 5 O14802,Q9UQR1,Q12768 3 |
| Kinetic tremor 0.3832481220097845 1.1865128422588005 0.2354198329484749 1.0 0.7167431587278715 35 P07602,Q14108,Q9NZJ7 3 |
| Abnormal cervical spine morphology 0.8207334467158092 1.1838074433143038 0.2364892951152677 1.0 0.7185874071835815 4 Q8IY37,P04066 2 |
| Abnormal lymphocyte morphology 0.3777536923408853 1.174685918141519 0.2401203952090225 1.0 0.7230896626465222 36 Q9NZC9,O15143,P04066,P16278,Q6PGP7,O00754 6 |
| Paraparesis 0.4063965526833879 1.17410504095905 0.2403529545973555 1.0 0.7230896626465222 28 P60891,P42356,Q13510 3 |
| Anterior uveitis 0.795625155513584 1.1714778349264283 0.2414067621157924 1.0 0.7250000239511106 3 P01889 1 |
| Ocular albinism 0.7064241472245761 1.1668999546897418 0.2432507742260949 1.0 0.727876437919408 5 O14617,Q86V48,O00203 3 |
| Focal segmental glomerulosclerosis 0.428286844085495 1.1658397832405205 0.2436792290256528 1.0 0.727876437919408 23 Q9NZC9,Q12965,P61619,Q92621,P00403,Q14108,O95470,Q9P2R3 8 |
| Aplasia hypoplasia involving forearm bones 0.432842303112227 1.164248964184318 0.2443231324682078 1.0 0.727876437919408 22 Q9UBM7 1 |
| Abnormal cellular phenotype 0.3693592155567413 1.1635218610722584 0.244617833776179 1.0 0.727876437919408 191 O14773,O75503,Q9Y2Q5,P15586,P07602,Q14108,Q9NZJ7,Q14739,O00754,P13051,Q15904,P26358,Q86Y39,P02786,Q9NPL8,Q8WYQ5,P11310,P51970,Q9NZC9,Q13510,P42345,P14174 22 |
| Bifid tongue 0.8147399023967374 1.161498636156741 0.245439177493226 1.0 0.727876437919408 4 Q9UBM7 1 |
| Abnormal systemic blood pressure 0.3190645620348954 1.1599260180786926 0.2460789286000404 1.0 0.727876437919408 92 Q9NZC9,O00170,P07686,P28288,P35610,P42892,P07602,Q13423,P01889,P06280,Q96HP0,O75531,O75165,Q9NZJ7 14 |
| Bulbous nose 0.3566016519465783 1.1588189591044646 0.2465299877963145 1.0 0.727876437919408 47 O75970,Q9NZC9,Q96HP0,Q9Y4A5,O14578,Q7Z6Z7,Q8ND04,P42892,Q93008,Q8WYQ5,Q9NXE4,Q96HA7 12 |
| Aplasia hypoplasia of toe 0.3799973341077178 1.1578568162975469 0.246922472755948 1.0 0.727876437919408 35 Q13510,Q9UBM7,P42858,Q96HP0 4 |
| Simple febrile seizure 0.8131384408118905 1.1555421104764945 0.2478684984995653 1.0 0.727876437919408 4 Q9BSV6,P11166 2 |
| Hypopigmentation of the fundus 0.813116050103828 1.15545884352979 0.2479025771003196 1.0 0.727876437919408 4 Q2M1P5,Q6P2Q9 2 |
| Upslanted palpebral fissure 0.3158326838507777 1.155218599125048 0.248000920125692 1.0 0.727876437919408 94 O43933,Q9UBM7,P41229,Q9Y4A5,Q8TC12,Q15125,Q00839 7 |
| Nasal regurgitation 0.7161961367013383 1.153745573203956 0.2486044938821603 1.0 0.7291875659672955 2 P53007 1 |
| Dry skin 0.3752005195878354 1.15180109759406 0.2494028167629689 1.0 0.7310679036135199 36 Q2TAA5,P04066,P16455,P37268,O75352 5 |
| Schizophrenia 0.4260785681918261 1.1498462680305164 0.2502071948477862 1.0 0.7328532687573673 23 P07602,O75165,P15289,Q9NZJ7 4 |
| Excessive salivation 0.3830014883292801 1.1495550880940428 0.2503271651509355 1.0 0.7328532687573673 34 P60891,P01889,P15586 3 |
| Focal cortical dysplasia 0.7891772440798444 1.145927443268609 0.2518251749764459 1.0 0.7350000957237307 3 P42345 1 |
| Abnormality of the tarsal bones 0.4027119993332933 1.1448110184190738 0.2522874500384009 1.0 0.7350000957237307 28 Q14739,Q15125 2 |
| Hypothalamic gonadotropin releasing hormone deficiency 0.7141158989598821 1.144338306793374 0.2524833626308449 1.0 0.7350000957237307 2 Q9BZH6 1 |
| Non obstructive azoospermia 0.7141158989598821 1.144338306793374 0.2524833626308449 1.0 0.7350000957237307 2 Q9BZH6 1 |
| Increased female libido 0.7141158989598821 1.144338306793374 0.2524833626308449 1.0 0.7350000957237307 2 Q9BZH6 1 |
| Decreased fertility in females 0.5959433554342841 1.142542412050775 0.253228627289245 1.0 0.7357874301673125 6 O00170,Q8IY37 2 |
| Abnormal protein o linked glycosylation 0.788013539417241 1.1413210196955232 0.2537363580995506 1.0 0.736342277655937 3 Q15904 1 |
| Abnormal 2nd finger morphology 0.5950396100545488 1.13848240791897 0.2549191006191074 1.0 0.7390655248465141 6 Q71SY5,P27635,Q9Y3E5 3 |
| Degeneration of the lateral corticospinal tracts 0.576836390976696 1.1372134498722128 0.2554490657001595 1.0 0.7390655248465141 7 Q12768 1 |
| Abnormal blood potassium concentration 0.4747203427540323 1.1357642411548714 0.2560552464442451 1.0 0.7390655248465141 13 Q13423,O00170,Q99996 3 |
| Abnormality of the pulmonary vasculature 0.3518645249204514 1.1345402870866326 0.2565679845862516 1.0 0.7390655248465141 48 Q15392,P42858,P27635,P51798,Q8WYQ5,Q96HP0 6 |
| Wide anterior fontanel 0.4239177752063863 1.1341940368689638 0.2567131648118603 1.0 0.7390655248465141 23 O43933,Q15125 2 |
| Tonic seizure 0.4136817635218802 1.1341114337691969 0.2567478081221301 1.0 0.7390655248465141 25 Q14204,P27635,P07602,P67870,Q9NZJ7 5 |
| Narrow nose 0.5939855741973117 1.1337477241981886 0.2569003846315265 1.0 0.7390655248465141 6 Q9Y4A5 1 |
| Death in infancy 0.3403356374183886 1.1286347909898358 0.2590519278790189 1.0 0.7436712894320888 67 O43933,P16278,Q15904,P07602,Q12768,P60891,Q9NZJ7 7 |
| Bilateral single transverse palmar creases 0.448062873617175 1.1285496348216062 0.2590878673190286 1.0 0.7436712894320888 16 O60216,O43933,Q9BSV6,P12955,Q8IYB7,Q6KC79,Q9BZG8,Q8IYA6,Q5SRE5 9 |
| Bruising susceptibility 0.3945669868198657 1.1281842633436174 0.2592421084628866 1.0 0.7436712894320888 30 O00170,P04062,Q14980,Q9BXW9,Q96L58,P46100,Q02809,P49327,P40763,P49257,Q02750,P51798,Q15833,Q14108,P35579 15 |
| Gastroesophageal reflux 0.32276679753862 1.126040956340833 0.2601481838624935 1.0 0.745235087340347 127 Q9UBM7,Q86V48,Q9H7D7,Q9BSV6,Q14204,Q14739,Q8IZA0,P42356,Q96F07,P27635,P07602,Q93008,Q12768,P67870,Q9NZJ7 15 |
| Aplasia hypoplasia involving the nose 0.37638402955014 1.1259964186640368 0.2601670352233562 1.0 0.745235087340347 35 Q5KU26,Q8TC12,Q8WYQ5,P60891,Q96HA7 5 |
| Poor suck 0.3999966088723656 1.1232163043852028 0.2613456396305649 1.0 0.7476286150923215 28 Q9UBM7,Q9BSV6,Q9BU61 3 |
| Astrocytosis 0.5913944654422968 1.1221110182602727 0.2618152396591586 1.0 0.7476286150923215 6 P42345,Q13501 2 |
| Abnormality of neutrophil morphology 0.694817632437965 1.1196763680522626 0.2628516990463432 1.0 0.7476286150923215 5 Q14739 1 |
| Female sexual dysfunction 0.5729165780852552 1.1190265225879308 0.2631288242520369 1.0 0.7476286150923215 7 Q709C8,O00170,P01889 3 |
| Delayed fine motor development 0.4797127379933835 1.1144621958578107 0.2650809538885204 1.0 0.751439850382763 12 P19022,Q5KU26 2 |
| Cerebral visual impairment 0.3390000928757491 1.113575354450989 0.2654614043245114 1.0 0.7520597615506723 67 Q9NZ01,Q9BSV6,Q14204,Q6P1N0,Q96N66,Q9NUQ7,P08243,Q9H490,P67870,Q2M389,Q9ULK4,P37268 12 |
| Otitis media 0.3413979456478292 1.1114120400277463 0.2663910321889529 1.0 0.7533162461353053 60 Q9UBM7,Q14739 2 |
| Abnormal heart valve physiology 0.3136044289423154 1.1060197878531817 0.2687179546840608 1.0 0.756990834388085 93 P19022,O00170,P46777,Q15125,P16278,O00754,Q15904,Q6ZXV5,P01889,Q12768,P06280,P61353,Q9BU61 13 |
| Increased serum iron 0.7996302012052472 1.1053843402614836 0.2689930863431096 1.0 0.756990834388085 4 Q658P3 1 |
| Abnormality of fluid regulation 0.3534539431963878 1.1030009487306769 0.2700267531503317 1.0 0.7571399566842877 173 Q9UBM7,Q15125,Q07020,Q12965,Q6P2Q9,P06280,Q14108,P61353,P21953,Q14739,P16278,P18077,Q8NCM8,P42766,P26358,P10619,P04439,P61313,P62899,P62847,P01889,Q92621,P11310,Q13510,P14174 25 |
| Arterial rupture 0.7049034175334332 1.1027732960068086 0.2701256275122201 1.0 0.7571399566842877 2 Q02809 1 |
| Abnormality of the abdominal wall 0.3240331446017801 1.1019819047388744 0.270469538532269 1.0 0.7571399566842877 131 Q9UBM7,Q9Y4A5,Q14739,P04066,O00462,P16278,O00754,P27635,P42345,Q8NCM8,Q12768,Q8WYQ5 12 |
| Metaphyseal dysplasia 0.4857116866994583 1.1005485091631502 0.2710932061574747 1.0 0.7573992280204926 11 Q9NUQ7,Q99575,O00443 3 |
| Low anterior hairline 0.340559657850178 1.0998609229932237 0.2713927229853747 1.0 0.7577350939412394 59 P46777,Q07020,P62899,P61313,P62847,P18077,O00754,Q9H9Y6,P42766,Q96HP0,P61353 11 |
| Inflammatory abnormality of the eye 0.3587875733038173 1.0995243953448304 0.271539399119403 1.0 0.7577350939412394 43 P04439,P02786,P01889,Q14739 4 |
| Abnormal spermatogenesis 0.4432181107420075 1.0977228499783216 0.2723255288698509 1.0 0.7585628422504117 16 Q658P3,P54132,P04062,Q9BXW9,Q13423,Q8IY37,Q9BZH6,Q9NVI1 8 |
| Abnormal granulocytopoietic cell morphology 0.7758620689655107 1.093320958814286 0.2742529038169206 1.0 0.7611950745342471 3 Q14980,Q07020 2 |
| Cerebral calcification 0.3660565642198986 1.0925680566505096 0.2745834941995251 1.0 0.7613866167936112 38 O43933,P05067,Q9Y4I1,O00584,Q9BUR4,P53634,Q14118,Q16625,P11166 9 |
| Abnormal visual fixation 0.5670543705044617 1.0918431276793483 0.2749020589660875 1.0 0.7613866167936112 7 Q5KU26 1 |
| Anisopoikilocytosis 0.795929305199533 1.091672646821859 0.2749770121739026 1.0 0.7613866167936112 4 Q658P3 1 |
| X linked dominant inheritance 0.3930407483915138 1.0908309147194652 0.2753472905993679 1.0 0.7617694689508485 29 P13473,Q15125 2 |
| Optic disc pallor 0.3497475626983587 1.0903806476576268 0.275545502971311 1.0 0.7617694689508485 47 O43933,P04439,O00754,Q9NPL8,P51798,P60891,Q86Y39 7 |
| Avascular necrosis of the capital femoral epiphysis 0.7952970288516316 1.0893315357954356 0.2760077108507235 1.0 0.7618945246478721 4 Q9NUQ7 1 |
| Abnormal ossification involving the femoral head and neck 0.7952740468439734 1.0892464491800855 0.276045220684574 1.0 0.7618945246478721 4 Q14739 1 |
| Poor fine motor coordination 0.5462040401922754 1.0856143301325938 0.2776496571115758 1.0 0.7628955560929238 8 P42858,Q8TC12 2 |
| Renal dysplasia 0.4575108406534467 1.0806062903198173 0.2798722832451705 1.0 0.7629827811777209 14 Q93008,Q8NCM8,O43505,Q9BU61,Q9UQR1 5 |
| Primary amenorrhea 0.4027190882822961 1.0798708679581943 0.2801996875891697 1.0 0.7629827811777209 26 O60216,O43933,Q8WWQ0,Q9BUK6,Q8N5K1,Q6KC79,P49770,Q13144,Q8IY37,Q9NR50,Q9BZH6,A6NHR9,O75616,Q14232,Q15031 15 |
| Abnormality of skin pigmentation 0.3324948618297446 1.0781510858407046 0.2809663366963961 1.0 0.7638669586558746 145 Q9Y2Q5,Q15125,P16455,Q9Y4I1,P07602,P53634,Q9NZJ7,P41229,Q658P3,Q14739,Q8IZA0,Q8TC12,Q93008,P51798,O75531,O14617,Q9NZC9,O00170,P42858,P42345 20 |
| Pericarditis 0.5808661293651247 1.0748736604396798 0.2824312959797641 1.0 0.7674009906545431 6 P01889 1 |
| Subcutaneous nodule 0.429822794085622 1.074367633814007 0.2826579428501605 1.0 0.7675682104616801 19 P01889,P06280 2 |
| Patchy changes of bone mineral density 0.7909403399306215 1.0732122779172222 0.2831758831231195 1.0 0.7677949082294401 4 Q14739 1 |
| Hypertrophic cardiomyopathy 0.3028655716380222 1.0730896551550009 0.2832308920136248 1.0 0.7677949082294401 106 P16278,P15586,Q9NPL8,Q96I36,P01889,P54802,P06280,P13473,P10253 9 |
| Aplasia hypoplasia of the optic nerve 0.4106777464196701 1.0730763020522598 0.2832368826873499 1.0 0.7677949082294401 24 P60891,P37268 2 |
| Stroke 0.3699857890028176 1.069578391909628 0.2848091256972878 1.0 0.7711923731382633 35 Q9NZC9,P06280,P05067 3 |
| Abnormality of the ankles 0.3535412955804938 1.0670825272905051 0.2859345711423855 1.0 0.7722381528520201 44 P42858,P27635,O00754,P07602,Q9NZJ7,Q14118 6 |
| Abnormal gallbladder morphology 0.3734597049914258 1.0667590810990517 0.2860806404785783 1.0 0.7722381528520201 34 P41229,A5YKK6,Q9UIG0,Q9Y4P3,Q71SY5,P15289,P07602,P47985,Q9NZJ7 9 |
| Transient ischemic attack 0.5030540736272806 1.0655102502040183 0.28664508957351 1.0 0.7722381528520201 10 P06280 1 |
| Muscle fiber necrosis 0.6965824665676088 1.0653818359531482 0.2867031731173552 1.0 0.7722381528520201 2 O60231 1 |
| Diminished ability to concentrate 0.6965824665676087 1.065381835953147 0.2867031731173557 1.0 0.7722381528520201 2 Q01082 1 |
| Alopecia 0.3493097126327211 1.0647141095372736 0.2870053231196183 1.0 0.7726043701118157 46 P48449,P41229,P46778,Q9NW13,Q15125,P62304,P01889,Q96HP0,Q9BUR4,P47985 10 |
| Hypoplastic vertebral bodies 0.5783406487676559 1.0635561824093505 0.2875298011694196 1.0 0.7731076393754732 6 Q14739 1 |
| Pancreatic islet cell hyperplasia 0.7875473325052615 1.060673932776 0.2888381103554134 1.0 0.7731076393754732 4 P53985,Q14739 2 |
| Hypoplasia of the brainstem 0.3797703440205816 1.0600092271349526 0.2891404015623553 1.0 0.7731076393754732 32 Q9BSV6,Q14204,Q9Y3C6,O14578,Q9UPN3,Q9UPT5,P43034,Q93008,Q6ZXV5,O43505,Q9NXE4,Q9UJX6,Q96EK5 13 |
| Lack of peer relationships 0.7673948129692306 1.0599972855068671 0.2891458342591062 1.0 0.7731076393754732 3 P11166 1 |
| Abnormality of lower limb epiphysis morphology 0.4275737858162108 1.0592428457341332 0.2894891967656563 1.0 0.7731076393754732 19 Q9NZC9,Q96HA7,Q9NUQ7 3 |
| Slender long bone 0.4616041633225045 1.0590018794740663 0.289598923767778 1.0 0.7731076393754732 13 Q9H490,P37268 2 |
| Abnormality of the fetal cardiovascular system 0.5766720921070241 1.0560822922720243 0.2909306197371355 1.0 0.7742051809719193 6 Q12768 1 |
| Oral cleft 0.3459405182381547 1.0540932578305453 0.2918402226585308 1.0 0.774424376081461 167 Q15392,Q9UBM7,Q9H7D7,Q15125,Q07020,P61353,Q9Y4A5,Q14739,P46777,P18077,Q8NCM8,Q93008,P42766,Q9HC21,Q14118,Q8IWS0,P62899,P61313,P62847,Q8WYQ5,Q6PGP7,Q9H9Y6,P62266,Q12768 24 |
| Smooth philtrum 0.3217519803421818 1.0540808948718792 0.2918458823176424 1.0 0.774424376081461 83 Q9H490,P67870,Q9H2P0,P41229,Q9Y4A5,O00203,Q8ND04,Q93008,Q00839,O14617,Q7Z6Z7,Q8IYB7,P27635,Q8WVX9,Q9NXE4,P19022,P42858,P42345,Q2M1P5 19 |
| Poikilocytosis 0.4443917637687961 1.0501604600531436 0.2936443451655552 1.0 0.7774217315914957 15 Q658P3 1 |
| Impairment of activities of daily living 0.335604802195216 1.0462117316928787 0.2954632876117038 1.0 0.7796970610448913 59 O75962,Q99720,P07686,P15289,Q13501,Q8WVX9,P07602,Q93008,Q12768,P26358,Q9H2P0,Q9NZJ7 12 |
| Abnormality of neuronal migration 0.3452882312370342 1.045073073738827 0.295989197692905 1.0 0.7805183097415288 167 Q15392,Q9UBM7,Q9H7D7,Q96N66,P67870,P37268,Q9Y4A5,Q2TAA5,P42356,Q9NUQ7,Q93008,Q2M389,Q9HC21,Q14118,Q9NZ01,Q5KU26,Q9BSV6,Q14204,P08243,Q6ZXV5,Q9ULK4,O43933,P19022,O75970,Q6P1N0,P42345,P78527,Q12768,Q8IY37,Q96HP0 30 |
| Neonatal insulin dependent diabetes mellitus 0.7627824019024936 1.0418934997234952 0.2974610581686541 1.0 0.7830216779886731 3 A5YKK6,P40763 2 |
| Lymphedema 0.4338859410607358 1.0383909222750851 0.2990880940651226 1.0 0.7836990456339479 16 Q14739,P06280 2 |
| Midface retrusion 0.313518544356189 1.0355796270399968 0.3003983005634965 1.0 0.7836990456339479 89 O43933,Q86V48,Q99575,Q14739,Q15125,O14646,O00754,P42345,Q12948,Q93008,Q8IY37,O75531,Q96HA7 13 |
| Broad distal phalanx of finger 0.5715775236903756 1.0332811891051823 0.3014723276990296 1.0 0.7851943726890317 6 P21333,Q96L58,O75369,Q8WXI9 4 |
| Bulbar signs 0.4650494875452687 1.0309866369256662 0.302547086376391 1.0 0.7851943726890317 12 P07602,Q99720,Q9NZJ7,Q15043 4 |
| Cubitus valgus 0.4326716951305124 1.0306782373474728 0.3026917335027184 1.0 0.7851943726890317 16 O43933,P41229 2 |
| Toe syndactyly 0.3320744530827921 1.0306008692723465 0.3027280282828313 1.0 0.7851943726890317 66 Q9UBM7,Q15125,P27635,Q8NCM8,Q93008,Q2M1P5,O75962,Q14692,P37268 9 |
| Leukoencephalopathy 0.3036399894322716 1.029788613786836 0.3031092468868077 1.0 0.7851943726890317 96 Q9NR50,O75503,Q14204,P11498,P27635,P15289,P17900,Q53FT3,Q9NPL8,P07602,O00584,P67870,Q9BU61,Q96HP0,Q86Y39,Q9NZJ7 16 |
| Fractures of the long bones 0.7790442495528794 1.0293169292946749 0.3033307705701882 1.0 0.7851943726890317 4 P51798,Q13501 2 |
| Interrupted aortic arch 0.7778809464015619 1.0250347169098846 0.3053468069428446 1.0 0.7867925356330893 4 Q8WYQ5 1 |
| Hyposmia 0.4402060354746535 1.0243863171104652 0.3056528421975926 1.0 0.7867925356330893 15 Q709C8,Q8WWQ0,Q04637,P04062,Q6Y7W6,Q9BZH6,A6NHR9,O75165,Q15043 9 |
| Short thorax 0.7579808744016704 1.023087461324251 0.3062664948362581 1.0 0.7867925356330893 3 Q8NCM8 1 |
| Childhood onset 0.3607921972394681 1.022659394364433 0.3064689165584084 1.0 0.7867925356330893 36 P60891,Q15904,Q14204,Q9NUQ7 4 |
| Hypoglycorrhachia 0.686775631500744 1.021527868531759 0.3070044124668871 1.0 0.7867925356330893 2 P11166 1 |
| Anteverted ears 0.7575364659234667 1.0213490231949354 0.3070891079091895 1.0 0.7867925356330893 3 P27635 1 |
| Recurrent tonsillitis 0.6864784546805359 1.0202029490342173 0.3076322193065599 1.0 0.786889881558282 2 P54132 1 |
| Tetraplegia tetraparesis 0.3381709290766488 1.0192437966828818 0.3080872389986635 1.0 0.786889881558282 49 O95630,P15289,P17900,P43034,Q8WVX9,P07602,Q13423,Q13501,P60891,Q9NZJ7,P51970 11 |
| Hypotelorism 0.3579838850077723 1.0189588233663045 0.3082225154479741 1.0 0.786889881558282 38 O14617,P19447,Q9Y4A5,A5YKK6,Q9BXW9,Q9BUK6,Q7Z6Z7,Q15904,Q93008,Q96I36,Q9NXE4 11 |
| Congenital contracture 0.3551609348760733 1.0184556369361768 0.308461473297662 1.0 0.7870677219323989 40 Q15392,P11310 2 |
| Abnormality of the musculature of the upper limbs 0.3271914857959502 1.0180584016235783 0.3086502026142215 1.0 0.7871172747962237 73 P46777,Q07020,P62899,P61313,P62847,P18077,Q13501,P07602,P42766,P61353,Q9NZJ7 11 |
| Abnormality of pain sensation 0.3867017091802807 1.0174935450734284 0.3089187014256527 1.0 0.7873700893244843 28 P60891 1 |
| Skin nodule 0.407154055691164 1.0127771586893248 0.3111666132205002 1.0 0.7909314296676356 23 P01889,P06280 2 |
| Lethargy 0.318290842150269 1.0111798529452634 0.3119303567059006 1.0 0.7914613887530397 83 Q07020,P61353,P21953,P46777,P18077,Q96RQ3,O75251,P42766,Q9Y3D3,Q86Y39,Q9HC21,P50747,P80404,P62899,P61313,P62847,Q9NPL8,Q9BU61,Q9NR50,P11310,P11166,P49770 22 |
| Abnormal abdomen morphology 0.3828944162863586 1.0070234590965497 0.3139235009609431 1.0 0.7935999760562397 234 Q15392,P04066,P15586,P07602,P61916,Q14108,Q9NZJ7,Q658P3,Q14739,P16278,O00754,Q15904,P54802,Q86Y39,P10253,Q9HC21,P10619,Q9NPL8,O15118,P01889,P11310,O43933,P07686,Q13510,Q96I36,P14174 26 |
| Abnormal epiglottis morphology 0.7724760258741008 1.005165103381355 0.3148173555853071 1.0 0.79495137383044 4 Q13510 1 |
| Abnormality of the scrotum 0.3469812189742634 1.0037387384557646 0.3155045596559531 1.0 0.7950030882604479 44 Q9UBM7,Q9Y4A5,P42858,Q8IWS0,Q8IY37 5 |
| Abnormal leukocyte count 0.3064087348865182 1.0022781182176312 0.3162092878156453 1.0 0.7963472259235833 117 Q9Y2Q5,Q07020,Q15833,P61353,Q14108,Q14739,P46777,P18077,Q15904,P42766,O14617,P02786,P62899,P61313,P62847,Q96HA7,Q9NZC9,O15143,Q6PGP7,Q96HP0,P35610 21 |
| Abnormal femoral neck morphology 0.3530566947652742 0.9989346905011972 0.3178263298941701 1.0 0.7982574865899498 40 Q99575,P04066,Q14839,P16278,O00754,Q9NUQ7,Q96HA7 7 |
| Abnormal aortic valve physiology 0.3425004037774321 0.9975648766689138 0.3184903998191339 1.0 0.7990619906957117 46 Q12768,O00754,P01889,Q15125 4 |
| Vascular neoplasm 0.3525789966997642 0.9945047758320292 0.3199771814809455 1.0 0.8022380451340765 40 Q9UBM7,P10619,P42345 3 |
| 11 pairs of ribs 0.4662494241819763 0.992654974410425 0.3208781242480329 1.0 0.8022380451340765 11 Q14739 1 |
| Abnormality iris morphology 0.3113444563331757 0.9921468892659956 0.321125876158169 1.0 0.8022380451340765 88 Q9UBM7,Q9Y4I1,Q9UBC2,Q9H2P0,Q96EK5,O00203,Q9UIG0,O43505,A6NHR9,Q14118,P52701,O14617,Q8IYB7,Q12948,Q96HA7,Q9NVI1,O43933,O75970,Q86V48,Q9Y4P3,Q9H9Y6,Q96EB1,Q12768,O75533,O95155 25 |
| Aplasia hypoplasia of the femur 0.4264486492864913 0.991187660329654 0.3215939548492819 1.0 0.8025176039153578 16 Q14839,Q96HA7,Q99575,O00443 4 |
| Abnormal st segment 0.7494054696789458 0.9896112592475236 0.3223641645621802 1.0 0.8027173332239402 3 P46976,Q99996 2 |
| St segment elevation 0.7494054696789458 0.9896112592475236 0.3223641645621802 1.0 0.8027173332239402 3 P46976,Q99996 2 |
| Multiple mitochondrial dna deletions 0.6793462109955434 0.9884815966302506 0.3229168430998128 1.0 0.8032318906212038 2 Q96RR1 1 |
| Nocturia 0.6793462109955434 0.9884815966302506 0.3229168430998128 1.0 0.8032318906212038 2 Q96RR1 1 |
| Renal insufficiency 0.3073751202282609 0.9881280289884208 0.3230899501623425 1.0 0.8032327156709789 91 Q9NZC9,Q14839,Q8NCM8,P01889,Q92621,P06280,P60891,Q14108,P35579 9 |
| Coarse hair 0.4166953156735781 0.9861628418874816 0.3240532101232842 1.0 0.8046898432286003 19 P15586,P54802 2 |
| Sclerosis of hand bone 0.7484454955930263 0.9858732250902864 0.3241953272461106 1.0 0.8046898432286003 3 Q15125 1 |
| Renal cortical microcysts 0.7479751614747399 0.9840425229055084 0.3250946055132218 1.0 0.8048814533632794 3 O43933 1 |
| Abnormal atrioventricular valve physiology 0.3301222086972702 0.9836629318320884 0.3252812713600936 1.0 0.8048814533632794 53 P19022,P46777,O00754,Q15904,P01889,P06280,Q9BU61 7 |
| Dilated third ventricle 0.7664117944465844 0.9829266229381864 0.3256435537754107 1.0 0.8048814533632794 4 Q71SY5,P26358 2 |
| Abnormality of the musculature of the limbs 0.3366991626942692 0.9821560024430764 0.3260229992687922 1.0 0.8048814533632794 161 Q15125,Q07020,P07602,P60891,P61353,Q9NZJ7,P41229,Q2TAA5,Q99720,Q14739,P46777,P42356,P18077,P42766,Q9HC21,Q14118,Q9BSV6,P62899,P61313,P62847,Q13510,Q96F07,Q13501,Q12768 24 |
| Abnormality of the neck 0.3471515466848708 0.9800674860611668 0.327052807356212 1.0 0.8048814533632794 177 Q07864,Q9UBM7,Q99575,Q15125,Q07020,P15586,Q92917,Q5SRE5,P61353,Q99720,Q14739,Q8TC12,P46777,P16278,O00754,P18077,P43034,P42766,Q9Y3D3,P62899,P61313,P62847,P27635,Q9NXE4,P11166,O43933,Q9NZC9,Q86V48,P19022,Q13501,Q9H9Y6,Q12768,Q8IY37,Q2M1P5,O00443,Q07954 36 |
| Abnormal urine metabolite level 0.3392443840763571 0.9800553261864232 0.327058809339984 1.0 0.8048814533632794 165 P04066,Q12965,P15586,P06280,P60891,Q14108,P21953,P53985,O00462,P16278,O00754,Q96RQ3,P54802,P10253,Q92621,P11310,O43933,Q9NZC9,Q6PGP7,Q96I36,O00443,P35579 22 |
| Omphalocele 0.4406202219822857 0.9793909408771564 0.3273868515219416 1.0 0.8048814533632794 14 Q8NCM8,Q14739 2 |
| Abnormality of skull ossification 0.4478686214076995 0.9788170106134254 0.327670403158554 1.0 0.8048814533632794 13 P54802,Q14739 2 |
| Eeg with irregular generalized spike and wave complexes 0.7461355529131948 0.976886796449648 0.3286251991626294 1.0 0.8052368332882465 3 Q96CW1,P11166 2 |
| Subcortical cerebral atrophy 0.6594919378271396 0.9767972329979496 0.3286695461961275 1.0 0.8052368332882465 5 O00754 1 |
| Intellectual disability borderline 0.764695281896018 0.9766431248679004 0.328745861385479 1.0 0.8052368332882465 4 Q96HA7 1 |
| Protuberant abdomen 0.5417755375050304 0.9750008264069052 0.3295598500320127 1.0 0.8065025371355018 7 Q9NZC9 1 |
| Abnormality of malar bones 0.3240215369145351 0.9739944502597888 0.3300592947943892 1.0 0.8069289781711718 72 O43933,Q8TC12,Q14739,Q15125,O00754,Q9H9Y6,Q12948,Q9H490,Q2M1P5,O75531,Q96HA7 11 |
| Migraine 0.3810748773292484 0.9728020588071508 0.3306516892699682 1.0 0.8069289781711718 28 O00170,Q4G176,P11166,P49327,P05067,P60866,P40692,P01889,P00403,Q9NQZ5,P52701 11 |
| Abnormal nipple morphology 0.3289047162957152 0.972358125102448 0.330872416539925 1.0 0.8070440002592401 58 Q9UBM7,P19022,Q9Y4A5,Q2TAA5,Q9NXE4,Q93008,Q12768,Q5SRE5,Q8IYA6,Q9H2P0 10 |
| Aplastic clavicle 0.6742942050520069 0.96610697522919 0.3339906545661084 1.0 0.8112313594388784 2 P48651 1 |
| Emg abnormality 0.3220024899388388 0.9653097956548816 0.3343896668762638 1.0 0.8112313594388784 74 O14773,Q13510,P07602,P60891,P13473 5 |
| Abnormal cortical gyration 0.3248488281713222 0.9618829378361432 0.336108410180757 1.0 0.811331862980109 146 Q15392,Q9H7D7,Q96N66,P67870,P37268,Q9Y4A5,P42356,Q9NUQ7,Q93008,Q2M389,Q9HC21,Q14118,Q9NZ01,Q5KU26,Q9BSV6,Q14204,P08243,Q6ZXV5,Q9ULK4,O43933,O75970,P42345,P78527,Q8IY37,Q96HP0 25 |
| Abnormal aortic morphology 0.3065101324023945 0.960939558142703 0.3365825592178018 1.0 0.811331862980109 121 Q9UBM7,Q86V48,Q9Y4A5,P42858,P19022,Q9H7D7,Q07020,Q14839,P62899,P61313,P62847,P18077,P01889,P42766,Q8WYQ5,P61353 16 |
| Dyspareunia 0.760057669624183 0.9596928045286992 0.3372098457349539 1.0 0.811331862980109 4 O00170,P01889 2 |
| Abnormality of the knee 0.3050410392025568 0.957548671736104 0.3382903922549511 1.0 0.811331862980109 91 Q15125,Q13510,P16278,O00754,P27635,Q9NUQ7,Q93008,Q6ZXV5,P51798,Q96HA7,P37268 11 |
| Abnormal acetabulum morphology 0.4068736896173682 0.9573642667403128 0.3383834277981332 1.0 0.811331862980109 21 Q9NZC9,Q14839,P16278,Q9NUQ7,Q8NCM8,Q96HA7 6 |
| Abnormality of the 1st metacarpal 0.4819545256280659 0.954832847154862 0.339662233562048 1.0 0.8127070117498515 10 O75962,Q9BXW9,Q6KC79,Q9NVI1 4 |
| T cell lymphoma 0.5535703541451469 0.9529781422269764 0.3406011454905147 1.0 0.8137698065421325 6 Q07864,P40692,P52701 3 |
| Adenoma sebaceum 0.5534791380550896 0.9525727588728266 0.3408065849295616 1.0 0.8137698065421325 6 P40692,P49815 2 |
| Angiofibromas 0.5534791380550896 0.9525727588728266 0.3408065849295616 1.0 0.8137698065421325 6 P40692,P49815 2 |
| Abnormality of t cell physiology 0.4201789285480974 0.951480267283052 0.3413606308824115 1.0 0.8142563227154086 16 Q8WYQ5 1 |
| Joint swelling 0.536273624456944 0.9496913654667104 0.3422690984038052 1.0 0.815299272766946 7 Q13510,P14174 2 |
| Progressive cerebellar ataxia 0.352623329520588 0.9495833942273189 0.3423239794452739 1.0 0.815299272766946 36 P35251,O14773,P42858 3 |
| Abnormality of the sense of smell 0.4079538406172537 0.94495398684175 0.344682367681709 1.0 0.8188187671702939 20 Q709C8,Q8WWQ0,P42858,Q04637,P04062,Q6Y7W6,Q2M1P5,Q9BZH6,A6NHR9,O75165,Q15043 11 |
| Iris coloboma 0.3518216400486727 0.9424229227525256 0.3459761558390892 1.0 0.8214724966782053 36 O75970,Q9UBM7,Q9H9Y6,Q12768,Q14118 5 |
| Abnormal libido 0.7545881712331122 0.939753810509542 0.3473438563635485 1.0 0.8225389210786334 4 O00170,P42858 2 |
| Increased muscle glycogen content 0.753587162646645 0.9361110198228526 0.3492160298220383 1.0 0.82537128756617 4 O75648,Q93100 2 |
| Rod cone dystrophy 0.3474783985320898 0.9347905241493406 0.3498962639333123 1.0 0.8262204624621784 39 P60891,O43933,Q6P2Q9,Q8TC12 4 |
| Abnormality of pancreas physiology 0.3296041747652346 0.932046147752949 0.3513126768819732 1.0 0.8273822871450321 49 Q9NZC9,Q14739,Q15904,P01889,P14174 5 |
| Neuronal loss in the cerebral cortex 0.6475499074161583 0.9289352089664809 0.3529226648138321 1.0 0.829365050260654 5 Q13501 1 |
| Decreased fertility in males 0.4469072002934736 0.9281307727765918 0.3533397387591059 1.0 0.829365050260654 12 O00170,P54132,Q02750,Q8IY37,Q9NVI1 5 |
| Hamartoma of tongue 0.7335147372880302 0.9280081386182368 0.3534033479385579 1.0 0.829365050260654 3 Q8NCM8 1 |
| Abnormal immune system morphology 0.3387042828768495 0.9267889451256032 0.3540361258175306 1.0 0.8304308521320383 170 Q9Y2Q5,P04066,Q07020,Q15833,P61916,Q14108,P61353,P53634,Q14739,P46777,P16278,O00754,P18077,Q15904,P42766,P51798,O14617,P02786,P62899,P61313,P62847,O15118,P01889,Q96HA7,Q9NZC9,O15143,Q13510,Q6PGP7,Q96HP0,P35610,P35579 31 |
| Dyslexia 0.5308525917665791 0.9248116228101868 0.3550639037294067 1.0 0.8316783837497979 7 Q01082,Q96T60,Q13501,P11166 4 |
| Hyperuricemia 0.4945006627334956 0.9243894992515458 0.3552835599326949 1.0 0.8316783837497979 9 P60891,P49257,P35610,P61619 4 |
| Falls 0.5466664848588326 0.9223437480738182 0.3563493013324068 1.0 0.8317173238063079 6 Q8WVX9,Q14204,Q96RL7 3 |
| Aphasia 0.3384067394988254 0.9211606250204004 0.3569665722207045 1.0 0.8317173238063079 44 Q9NZC9,P42858,P17480,Q13501,P05067,Q9H9Y6,O96008 7 |
| Soft tissue sarcoma 0.3471562775790759 0.920473264826569 0.3573254978390441 1.0 0.8317173238063079 38 Q15392 1 |
| Brachydactyly 0.3099391739055088 0.9199457285015372 0.3576011207349587 1.0 0.8317173238063079 84 P48449,Q9UBM7,Q86V48,P41229,O75962,Q99575,Q14739,Q8TC12,Q9H2P0,O95630,Q8NCM8,Q12768,Q2M1P5,Q96HP0,Q9Y3D3,Q96HA7 16 |
| Abnormality of the nasal dorsum 0.3239811270770542 0.9195357798542532 0.3578153997598032 1.0 0.8317173238063079 58 O43933,Q86V48,Q15125,P16278,Q6PGP7,P27635,O00754,Q12948,O75531 9 |
| Pulmonary infiltrates 0.4529325722438347 0.9191722186337368 0.3580054997999933 1.0 0.8317173238063079 11 P04062,Q13510,P49327,P49815,P01889 5 |
| Abnormal peripheral nervous system physiology 0.3239069911533696 0.9187416389661254 0.3582307248428309 1.0 0.8317173238063079 58 P60891,P07602,Q15125 3 |
| External genital hypoplasia 0.3109012038799201 0.9181880225943734 0.3585204381389204 1.0 0.8317173238063079 131 Q9UBM7,P42892,Q6P2Q9,P41229,Q9Y4A5,Q8NCM8,Q14118,Q8IWS0,Q14839,P27635,O43933,P48449,Q86V48,P19022,Q9H9Y6,P78527,Q12768,Q8IY37,Q2M1P5 19 |
| Coxa valga 0.4010265314093158 0.9167756309701433 0.3592602248503347 1.0 0.8326025849098734 21 P16278,O00754,P04066 3 |
| Aplasia hypoplasia of the ribs 0.3935879147178134 0.9147757395031676 0.3603093734525395 1.0 0.8340237020253922 23 Q86V48,Q12768,Q14739 3 |
| Stereotypy 0.3148081475158229 0.9145810339917756 0.3604116191372366 1.0 0.8340237020253922 78 Q9NZ01,Q86V48,Q9H7D7,Q14204,O14646,Q6P1N0,Q96N66,Q9NUQ7,Q13501,Q9ULK4,Q2M389,P67870,O75962,P61916 14 |
| Micronodular cirrhosis 0.6434778737581253 0.9126827675277132 0.3614094096615847 1.0 0.835784010252173 5 P11717 1 |
| Vertebral hypoplasia 0.4738374821479532 0.9124500247513164 0.361531865910329 1.0 0.835784010252173 10 Q14739 1 |
| Abnormality of corneal size 0.3421495122620068 0.911063179761527 0.3622620854569203 1.0 0.8359519091303325 41 P19447,Q15125,Q9UIG0,Q02809,Q71SY5,Q6KC79,P36404,O43505,O15347,Q14118,Q96EK5 11 |
| Broad foot 0.4510329841859409 0.9087243342249876 0.3634956558594739 1.0 0.8359519091303325 11 Q96HA7,P27635,Q8IWS0 3 |
| Abnormal blood gas level 0.7277051129607565 0.9056450247010766 0.3651237693021674 1.0 0.8359519091303325 3 A5YKK6,P06753 2 |
| Frontal hirsutism 0.66032689450223 0.9047090183261968 0.3656195621568705 1.0 0.8359519091303325 2 Q8IYA6 1 |
| Absent frontal sinuses 0.66032689450223 0.9047090183261968 0.3656195621568705 1.0 0.8359519091303325 2 P46100 1 |
| Abnormality of frontal sinus 0.66032689450223 0.9047090183261968 0.3656195621568705 1.0 0.8359519091303325 2 P46100 1 |
| Myelomeningocele 0.66032689450223 0.9047090183261968 0.3656195621568705 1.0 0.8359519091303325 2 Q96ST3 1 |
| Cor pulmonale 0.6603268945022298 0.904709018326196 0.3656195621568709 1.0 0.8359519091303325 2 P06753 1 |
| Abnormal left ventricle morphology 0.3832188636141715 0.9044813889416002 0.3657401985741226 1.0 0.8359519091303325 25 P06280 1 |
| Developmental cataract 0.3226126077439751 0.903776803344321 0.3661137642234389 1.0 0.8363945404790012 56 P48449,P46777,Q07020,P62899,P61313,P62847,P18077,P42766,Q5SRE5,Q15800,Q96HP0,P61353,O00443 13 |
| Coma 0.3506291541019472 0.8993131125771914 0.3684859048996993 1.0 0.8378194229560557 35 P21953,P05067,Q96RQ3,Q13423,P35610,P11310 6 |
| Abnormal nerve conduction velocity 0.3341401406552584 0.8971460394201263 0.3696409944867878 1.0 0.8390922770356818 45 P60891,P07602,Q99720 3 |
| Widely spaced teeth 0.3660975165139841 0.8958606787947493 0.3703271773095276 1.0 0.8398297791765823 30 Q9H7D7,O00170,Q8TC12,Q13155,P16278,O00754 6 |
| Poor wound healing 0.5403958804546463 0.8946113638282971 0.3709948750058922 1.0 0.8398792132758245 6 O00170,Q02809,P04062 3 |
| Congenital malformation of the right heart 0.470241465848467 0.893722261886416 0.3714705112625238 1.0 0.8398792132758245 10 P01889 1 |
| Abnormal morphology of the abdominal musculature 0.4406306267430805 0.8927276930905935 0.3720030163657242 1.0 0.8403508372615411 12 O00462 1 |
| Eczema 0.3440397043245378 0.8922138108120938 0.372278340984286 1.0 0.8405643551413045 38 Q9UBM7 1 |
| Acne 0.4328022862882642 0.8913238215410894 0.3727554725335311 1.0 0.8408510872999374 13 Q92542,P01889 2 |
| Neoplasm by histology 0.3007900720834218 0.8913022046988271 0.3727670662347109 1.0 0.8408510872999374 120 Q15392,Q86V48,P63167,Q07020,P46777,P62899,P61313,P62847,P18077,P16455,Q13501,Q6PGP7,P42766,Q8IY37,Q2M1P5,Q07954,P61353,P53634 18 |
| Abnormality of skin adnexa physiology 0.3275293968139546 0.8894777459710392 0.3737463780532823 1.0 0.842303082766532 48 P01889,P04066,P06280 3 |
| Protruding tongue 0.4101191326633834 0.8879976645483276 0.3745420075764851 1.0 0.8432183018029441 16 O43933,P67870 2 |
| Focal motor seizure 0.3937201712560023 0.8868107697547037 0.3751807883199904 1.0 0.8434226881205988 22 O14617,Q9NZC9,O75503,Q14204,P43034,P67870 6 |
| Limitation of joint mobility 0.2904809110706154 0.8864808421778464 0.375358473160146 1.0 0.8434226881205988 107 Q86V48,P16278,O00754,P15586,Q93008,P01889,P54802,Q92917,O75531,Q96HA7,Q9HC21,P37268 12 |
| Distal arthrogryposis 0.7384952647483636 0.8814516412231151 0.3780734172885478 1.0 0.8468799134833591 4 P11310 1 |
| Curly eyelashes 0.6355660635164868 0.8812161993218692 0.3782008130007654 1.0 0.8468799134833591 5 Q8N3U4,Q6KC79 2 |
| Pericardial effusion 0.5029585612007578 0.8783203646074699 0.3797698873398587 1.0 0.8468799134833591 8 Q14108,P47985 2 |
| Hypoplasia of the primary teeth 0.6540861812778614 0.8775205105824894 0.3802039833521515 1.0 0.8468799134833591 2 Q8IWV7 1 |
| Submucous cleft soft palate 0.7202182260094943 0.8769667207813518 0.3805047141959936 1.0 0.8468799134833591 3 O14802 1 |
| Low frustration tolerance 0.466995222126 0.8768454875198967 0.3805705683796896 1.0 0.8468799134833591 10 P41229,O75165,Q04637 3 |
| Agyria 0.7200893125500774 0.8764743878998565 0.380772194051219 1.0 0.8468799134833591 3 Q14118 1 |
| Nausea and vomiting 0.3178528986665658 0.8747349920897757 0.3817181158757257 1.0 0.8468799134833591 145 Q9UBM7,Q9NWH9,P42892,P07602,Q13423,P06280,Q9NZJ7,P21953,Q2TAA5,Q8IZA0,P11117,Q96RQ3,Q86Y39,Q709C8,Q9NPL8,P01889,Q9BU61,P11310,O00170,Q13501,P35610 21 |
| Abnormal circulating nucleobase concentration 0.4297275773491775 0.8735525065090272 0.3823620000863779 1.0 0.8468799134833591 13 P60891,P49257,P35610,P61619 4 |
| Overweight 0.5352685195029763 0.8720084441359892 0.3832037709733233 1.0 0.8473611405647561 6 Q9UKG1,Q9HCK8,Q8NI27 3 |
| Abnormal circulating ferritin concentration 0.5190629355038845 0.8709375593733925 0.3837882474332152 1.0 0.8473917174530814 7 Q658P3 1 |
| Abnormal thalamic size 0.718426288343517 0.8701277497839106 0.3842305942530766 1.0 0.8473917174530814 3 P11166 1 |
| Bradykinesia 0.3753265705965382 0.8701223537924557 0.3842335427814789 1.0 0.8473917174530814 26 Q709C8,P42858,Q04637,P04062,Q96RL7,Q6Y7W6,Q9Y3I1,P06753,O75165,Q96QK1,Q96RR1,Q15043 12 |
| Hemoptysis 0.5185071771889207 0.8684069154877385 0.3851716103800195 1.0 0.848525418055805 7 P49815,P01889 2 |
| Sleep disturbance 0.3295918133607533 0.8656131989490182 0.3867023149751134 1.0 0.8500137410493156 163 Q9UBM7,O75503,Q9HCK8,Q96N66,P15586,P67870,P60891,P50897,Q9NUQ7,Q2M389,P26358,P54802,O75165,Q9NZ01,Q709C8,Q9BSV6,Q14204,Q9ULK4,O00170,P42858,Q6P1N0,O75962,P35610 23 |
| Polyphagia 0.4817842790203687 0.8612743539864133 0.3890869570633066 1.0 0.8535449148460382 9 Q86V48,P42858 2 |
| Abnormal renal cortex morphology 0.3182724276736013 0.8585135639173282 0.3906089439597326 1.0 0.8549627968308838 58 O43933,Q9NZC9,P01889,Q92621,P06280,Q14108 6 |
| Alkalosis 0.7152552879619924 0.8580503539727287 0.3908646593527094 1.0 0.8551199065085864 3 P01889 1 |
| Unusual fungal infection 0.4809555139513367 0.8571761556449856 0.3913475381384943 1.0 0.8554409127404362 9 P40763,P02786,O00203 3 |
| Increased circulating antibody level 0.4051949491644558 0.8570544523513339 0.3914147917949666 1.0 0.8554409127404362 16 P12955,P49327,P13051,P40763,Q9Y5L0,Q14108 6 |
| Abnormality of the pylorus 0.3419926861285414 0.8548726570903946 0.3926216492576539 1.0 0.8554409127404362 36 O43933,Q9UBM7 2 |
| Eunuchoid habitus 0.7143281807372126 0.8545253990861815 0.3928139424908816 1.0 0.8554409127404362 3 Q9BZH6,P04350 2 |
| Septo optic dysplasia 0.7143281807372126 0.8545253990861815 0.3928139424908816 1.0 0.8554409127404362 3 Q9BZH6,Q8N3U4 2 |
| Anosmia 0.7143281807372125 0.85452539908618 0.3928139424908825 1.0 0.8554409127404362 3 Q9BZH6,A6NHR9 2 |
| Breast hypoplasia 0.7143281807372109 0.8545253990861743 0.3928139424908856 1.0 0.8554409127404362 3 Q9BZH6,Q93008 2 |
| Astigmatism 0.3178456057251781 0.8533181001405734 0.393482925271404 1.0 0.8555140576905732 56 Q9BXW9,Q9H2P0,Q8WXI9,O00754,Q6KC79,Q8ND04,Q93008,Q10471,Q07021,P26640,P19447,Q12830,Q14839,Q7Z6Z7,Q9ULH0,Q9UJX6,Q9NVI1,Q9NZC9,P42858,P10412,O75648 21 |
| Nail dysplasia 0.3659458830446188 0.8530688648301076 0.3936211162400809 1.0 0.8555140576905732 28 P42892,P10321,Q9Y4A5 3 |
| Abnormal thorax morphology 0.3707337986455708 0.8484430755857261 0.3961912618233913 1.0 0.8582913216295185 233 Q9UBM7,Q99575,P04066,Q15125,Q07020,P15586,Q9H490,Q92917,P61353,P41229,Q14739,P46777,P16278,P42356,O00754,P18077,Q8NCM8,P42766,P51798,P54802,O75531,Q14839,P62899,P61313,P62847,Q6ZXV5,Q96HA7,O43933,Q9NZC9,Q86V48,P19022,P42858,Q13510,P42345,Q13501,Q12768,Q2M1P5,O00443,O75962 39 |
| Abnormal thoracic spine morphology 0.3723442577528433 0.8474208822734042 0.3967605690436384 1.0 0.8585152599302088 26 Q9NZC9,Q96HA7,O00754,Q99575 4 |
| Abnormality of the testis size 0.3543934452659453 0.8472628426473716 0.3968486327360763 1.0 0.8585152599302088 32 P41229,P19447,Q8IWS0,Q8NI27,Q9BXW9,P46100,P27635,O43505,Q8IY37,Q9BZH6,Q9NVI1 11 |
| Poor head control 0.3118295511293716 0.8469150337149894 0.3970424822381413 1.0 0.8585351162442414 74 O14617,Q5KU26,Q96F07,P17900,P06865,Q9NPL8,P07602,Q86Y39,Q9NZJ7 9 |
| Abnormal cns myelination 0.3129451211793698 0.8461301638889209 0.3974801351958463 1.0 0.858589649800139 141 Q9H7D7,Q53FT3,P07602,O00584,Q9H490,Q5SRE5,P60891,Q9NZJ7,Q99720,P15289,Q86Y39,P10253,Q14118,O14617,P80404,Q13155,Q9NPL8,Q8WVX9,Q9BU61,Q9NR50,Q9NXE4,O43933,P07686,P04350,P11498,P78527,Q96I36,Q8IY37 28 |
| Phenotypic variability 0.2828542419374885 0.8452144509184223 0.3979911153622928 1.0 0.858589649800139 101 Q15125,Q13510,P17900,P07602,Q6P2Q9,P60891 6 |
| Abnormal odontoid tissue morphology 0.3348071825157442 0.8427708866297171 0.3993565933080782 1.0 0.8611358081118997 41 O43933,Q9UBM7,P16278,Q9H9Y6 4 |
| Abnormality of temperature regulation 0.2934825281341929 0.8420722762780297 0.3997474983734816 1.0 0.8613902030386225 115 O14802,Q12965,P07602,P06280,Q15833,Q9NZJ7,Q2TAA5,Q14739,P49815,P51798,P10253,Q9HC21,Q14980,Q8IYB7,P01889,Q92621,Q9NR50,Q14232,P47985,Q13510,P49770,P35610,P14174,Q9P2R3 24 |
| Abnormal eyebrow morphology 0.3295960228541892 0.8381691244605407 0.4019357249866044 1.0 0.8627267329116789 166 Q9H7D7,P04066,Q15125,O14646,P15586,P62304,P41229,Q9Y4A5,O00754,Q00839,P54802,O75531,P46778,Q5KU26,Q8IWS0,O43933,P48449,Q86V48,P19022,P42858,O00170,Q96F07,P62266,Q2M1P5,O75962,Q07954 26 |
| Abnormal corneal epithelium morphology 0.3943617030055161 0.8369965359259769 0.4025945151968622 1.0 0.8633126850323857 19 Q14739 1 |
| Contractures of the joints of the lower limbs 0.3162511990909431 0.8365523167338826 0.40284425786021 1.0 0.8633150350874148 57 Q9H7D7,Q99720,Q8IZA0,P27635,Q9HC21,Q14118,P37268 7 |
| Abnormal ldl cholesterol concentration 0.4304852617080184 0.8357794712495316 0.4032789773953995 1.0 0.8633150350874148 12 Q8N511,P37268 2 |
| Abnormal urine cytology 0.3277354913712375 0.8351947661421203 0.4036080560883754 1.0 0.8634946400160413 45 Q14108,P01889,P06280 3 |
| Slow saccadic eye movements 0.4371438886190016 0.8326754597747005 0.4050277883321533 1.0 0.8641460247619004 11 O60231,P04062,Q96RL7,Q8IV08,Q9UHD1 5 |
| Premature birth 0.3175646195176505 0.8319199075285978 0.4054541542145888 1.0 0.8642375391645511 50 O43933,Q9UBM7,Q9NZC9,Q96HP0,P27635,Q2M1P5,P51798,Q9NXE4 8 |
| Hypokalemia 0.4928106663664771 0.830261581795727 0.4063909042511509 1.0 0.8642375391645511 8 Q99996 1 |
| Spondylolysis 0.6430906389301647 0.8300352454735643 0.4065188565458255 1.0 0.8642375391645511 2 P21333 1 |
| Capitate hamate fusion 0.6430906389301647 0.8300352454735643 0.4065188565458255 1.0 0.8642375391645511 2 P21333 1 |
| Talipes equinovalgus 0.6430906389301646 0.8300352454735643 0.4065188565458255 1.0 0.8642375391645511 2 Q9Y3E5 1 |
| Bone pain 0.3855698460355473 0.8294506508217613 0.4068494504237305 1.0 0.8642375391645511 22 Q13501,P07602,P51798,Q14108,Q9NZJ7 5 |
| Abnormal clavicle morphology 0.388328913634413 0.8290237689445127 0.4070909575088755 1.0 0.8642375391645511 21 Q14839,Q8NCM8,Q14739,O75531 4 |
| Obsessive compulsive behavior 0.3301896336207375 0.8271271686990633 0.4081649865631311 1.0 0.8650553927067445 43 O75503,P42858,Q9Y4A5,Q13501,Q93008,O75962 6 |
| Intellectual disability progressive 0.3948158811127562 0.8267056074830159 0.4084039422894552 1.0 0.8650553927067445 18 O43933,P41229,Q96HA7 3 |
| Abnormality of the subungual region 0.6416047548291246 0.8236623928123267 0.4101314135176457 1.0 0.867317099366044 2 P49815 1 |
| Abnormal parotid gland morphology 0.6416047548291246 0.8236623928123267 0.4101314135176457 1.0 0.867317099366044 2 Q13428 1 |
| Annular pancreas 0.6208181093077736 0.8230079413494886 0.4105034774372416 1.0 0.867317099366044 5 Q86V48,O95155 2 |
| Macular thickening 0.5237581817174279 0.8215439290544343 0.411336512600752 1.0 0.867317099366044 6 P04439 1 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.7215583903920253 0.8207780127930426 0.4117727247970637 1.0 0.867317099366044 4 O75962,P42345 2 |
| Soft doughy skin 0.7053554452968009 0.8205603157255478 0.4118967598494114 1.0 0.867317099366044 3 P18583 1 |
| Sunken cheeks 0.704880596451839 0.8187707119033437 0.4129172439195385 1.0 0.867317099366044 3 Q07954 1 |
| Spondyloepiphyseal dysplasia 0.704626241969009 0.8178124410486783 0.4134642930136416 1.0 0.867317099366044 3 Q9NZC9 1 |
| Prolonged bleeding following procedure 0.6401188707280845 0.8173006107944558 0.4137566578150897 1.0 0.867317099366044 2 P49257 1 |
| Melena 0.6401188707280844 0.8173006107944543 0.4137566578150906 1.0 0.867317099366044 2 P46100 1 |
| Single naris 0.7044672035873765 0.8172133897567206 0.4138064919258832 1.0 0.867317099366044 3 A6NHR9 1 |
| Posterior fossa cyst 0.7201630444033533 0.8158150742977586 0.4146059102930273 1.0 0.867317099366044 4 P80404 1 |
| Cns hypomyelination 0.3355776520140344 0.8157791655902703 0.4146264513567574 1.0 0.867317099366044 38 Q9H7D7,Q99720,P04350,O14802,P07686,P49770,P78527,Q9NR50,Q9NXE4,Q14232,Q9BTW9 11 |
| Ketosis 0.388153608399533 0.8106290569907759 0.4175787250337972 1.0 0.87050113526167 20 P21953,P53985,P35610,P11310,P09001 5 |
| Biconcave vertebral bodies 0.5211749795897704 0.8102770818397741 0.4177809442092306 1.0 0.87050113526167 6 Q96HA7 1 |
| Renal angiomyolipoma 0.6383358098068364 0.8096813512028062 0.4181233388835523 1.0 0.87050113526167 2 P49815 1 |
| Neutrophilia 0.6383358098068362 0.8096813512028043 0.4181233388835534 1.0 0.87050113526167 2 Q9H1C4 1 |
| Abnormality of facial musculature 0.305217329615879 0.8093655495864948 0.4183049120616413 1.0 0.87050113526167 79 O43933,P41229,Q13510,P42356,O00754,Q13501,Q93008,Q14692,P51798,O75165,P10253,Q15043 12 |
| Progressive microcephaly 0.3194305588764345 0.8086579025854219 0.4187119490398956 1.0 0.8706420906428027 48 Q5KU26,P50897,O95630,Q9BSV6,Q6P1N0,P43034,Q8WVX9,P08243,Q9NXE4,Q9HC21,Q15043 11 |
| Hemiparesis 0.3853585827502159 0.8085966434761096 0.4187471961018083 1.0 0.8706420906428027 21 Q9NZC9,P42345,P49815,P01889,Q96HP0,P11166 6 |
| Osteopenia 0.3108945994094272 0.8070434645760318 0.4196414421916277 1.0 0.8709433324771773 69 Q07864,O14802,P40763,P07602,Q9H490,Q9BZH6,Q14108,Q9NZJ7,Q9UIG0,O00754,Q93008,O14745,P19447,Q02809,Q96HA7,P57678,Q9NZC9,O00170,Q32P28 19 |
| Thick lower lip vermilion 0.3171658442004071 0.8062974458845149 0.4200713628529571 1.0 0.8713901677830703 49 P15586,P04066 2 |
| Abnormal enzyme coenzyme activity 0.3467656102491686 0.8033816605379394 0.4217541717647362 1.0 0.8721020960409205 197 Q07020,P28288,P07602,P60891,P61916,P61353,Q9NZJ7,Q658P3,Q2TAA5,Q14739,P46777,P16278,O00754,P18077,Q15904,P42766,P51798,P10253,P10619,P62899,P61313,P62847,O15118,P01889,P11310,P07686,Q13510,Q13501,P35579 29 |
| Abnormal erythrocyte sedimentation rate 0.4527695526974804 0.8032805945976713 0.4218125715010528 1.0 0.8721020960409205 10 P01889,P14174 2 |
| Abnormal sputum 0.4693674914831792 0.8001087190801421 0.4236478099078415 1.0 0.8745731208976711 9 P49815,P01889 2 |
| Digenic inheritance 0.6993828649089185 0.798111677787985 0.4248056852961901 1.0 0.8751336021720031 3 Q8NCM8 1 |
| Horseshoe kidney 0.3271093070380463 0.7980764423689048 0.4248261312168435 1.0 0.8751336021720031 43 Q07020,P62899,P61313,P62847,P18077,Q00839,P42766,P61353 8 |
| Dyskinesia 0.3098937497280257 0.7958212048459216 0.4261359648812479 1.0 0.876207917175109 69 Q04637,Q96N66,P67870,Q9NUQ7,Q2M389,O75165,P52701,Q15043,Q9NZ01,Q709C8,Q14204,Q9ULK4,Q9BU61,Q9UBX3,P11166,Q6P1N0,Q96F07,P40692,P35610 19 |
| Neoplasm of the large intestine 0.3119470361395367 0.7937095954737284 0.427364512839981 1.0 0.8768250261276376 53 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P63167,P61353 9 |
| Broad toe 0.3583554660835161 0.7933801288727037 0.427556384537727 1.0 0.8768250261276376 28 Q93008,P42858,Q15125 3 |
| Abnormal caudate nucleus morphology 0.4508402602163697 0.7933606657663871 0.4275677208499364 1.0 0.8768250261276376 10 P42858 1 |
| Psychomotor retardation 0.331425375253178 0.7884382986159327 0.4304403762162518 1.0 0.8792420339189276 39 O43933,P80404,Q2TAA5,Q8TC12,P16278,Q96HP0 6 |
| Occipital encephalocele 0.7119363566287288 0.7866758310855846 0.4314716558211586 1.0 0.8792420339189276 4 Q6ZXV5 1 |
| Arthralgia 0.3342809100102438 0.7865998815509663 0.4315161286400142 1.0 0.8792420339189276 36 P19447,O00170,Q13510,Q9UIG0,P49327,Q9NUQ7,P01889,P53621,Q15800,P06280,Q2M1P5,P14174 12 |
| Amyotrophic lateral sclerosis 0.4011052444569113 0.7859049062767073 0.4319231999970674 1.0 0.8792420339189276 15 Q99720 1 |
| Acquired abnormal hair pattern 0.5001830218629079 0.7855162370128667 0.4321509541690518 1.0 0.8792420339189276 7 P41229,P11166 2 |
| Tapered finger 0.3285965056002199 0.785320237655615 0.4322658331371549 1.0 0.8792420339189276 41 P41229,O00170,Q8IWS0,Q14839,P27635,P42892,Q93008,Q2M1P5 8 |
| Acute coronary syndrome 0.3841036446743814 0.7833694026693278 0.4334102184714254 1.0 0.8792420339189276 20 P01889,P06280 2 |
| Chronic mucocutaneous candidiasis 0.4995516169673881 0.7826812831464333 0.4338142960331037 1.0 0.8792420339189276 7 P02786,O00203 2 |
| Abnormality of the elbow 0.3109946898852456 0.7810184955789855 0.434791616596645 1.0 0.8792420339189276 57 O43933,P41229,Q99575,Q13510,Q96HA7,P37268 6 |
| Failure to thrive in infancy 0.3369246720029284 0.7797807939305069 0.4355199130992422 1.0 0.8792420339189276 35 P42892 1 |
| Limb myoclonus 0.6095833718094825 0.7791206191999503 0.4359086650499955 1.0 0.8792420339189276 5 Q13510 1 |
| Subacute progressive viral hepatitis 0.7095909132081422 0.7784077748740861 0.4363286567131754 1.0 0.8792420339189276 4 P11717 1 |
| Viral hepatitis 0.7095909132081422 0.7784077748740861 0.4363286567131754 1.0 0.8792420339189276 4 P11717 1 |
| Photopsia 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Uveal melanoma 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Metamorphopsia 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Choroidal melanoma 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Inferior lens subluxation 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Lens subluxation 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Mydriasis 0.6309063893016358 0.7781162990616912 0.4365004547827242 1.0 0.8792420339189276 2 O75533 1 |
| Recurrent lower respiratory tract infections 0.3596030566031098 0.7758132274439062 0.4378592727173078 1.0 0.8810651893970124 27 O00203,P50851,Q02809,Q71SY5,P13051,P40763,Q93008,P78527,Q96HA7,Q9BTW9 10 |
| Congenital bilateral hip dislocation 0.6303120356612195 0.7756042310864545 0.4379827013916642 1.0 0.8810651893970124 2 Q02809 1 |
| Thickened skin 0.2825336891883855 0.774869193765883 0.4384169572659411 1.0 0.8810651893970124 107 O43933,Q14739,P04066,Q15125,P16278,P06280,Q07954,O75352 8 |
| Palmoplantar cutis laxa 0.6300148588410115 0.7743489491108986 0.4387244643816057 1.0 0.8810651893970124 2 Q02809 1 |
| Excessive wrinkling of palmar skin 0.6300148588410115 0.7743489491108986 0.4387244643816057 1.0 0.8810651893970124 2 Q02809 1 |
| Abnormally ossified vertebrae 0.7083427833708087 0.774015375243311 0.4389216989983826 1.0 0.8810651893970124 4 Q14739 1 |
| Shuffling gait 0.4181250982411201 0.766987815889021 0.443088759729374 1.0 0.8856060378253913 12 P41229,Q04637,P04062,Q6Y7W6,Q9Y3I1,O75165 6 |
| Anorexia 0.3472855306575446 0.765119476390981 0.4442004032398283 1.0 0.8867647395384973 31 Q14108,P06280 2 |
| Flared metaphysis 0.4246749105289779 0.7650517766431422 0.4442407137847193 1.0 0.8867647395384973 11 Q14739 1 |
| Ketoacidosis 0.4451952262898285 0.7644262774831573 0.4446132542776577 1.0 0.8871274760243909 10 P35610,P09001,P53985,P08574 4 |
| Absence of secondary sex characteristics 0.7045393839747894 0.7606632391253791 0.446858237058523 1.0 0.8900788106619851 4 Q9BZH6,Q8IY37 2 |
| Severe postnatal growth retardation 0.4237080121398273 0.7598392564962754 0.4473506743393953 1.0 0.8901760454872487 11 O60216,P27635,P54132,Q6KC79 4 |
| Scotoma 0.4937638444640717 0.7567701417291381 0.4491875840283263 1.0 0.8914902958968784 7 P04439 1 |
| Enlarged cisterna magna 0.377738037050851 0.7564126981977617 0.4494017970079866 1.0 0.8914902958968784 21 P19022,O00754,Q12948,Q9NPL8,Q9H490 5 |
| Renal hypoplasia 0.334070173108875 0.7550620971006649 0.4502117240217167 1.0 0.8917913527809805 35 Q9UBM7,Q96I36,Q9Y4A5 3 |
| Abnormal natural killer cell physiology 0.6868412613113454 0.7514298188014279 0.4523940226872129 1.0 0.8934155882188091 3 Q15833 1 |
| Macule 0.3027551244294547 0.7488774198797217 0.4539310910980654 1.0 0.8934155882188091 75 P41229,Q86V48,Q9NZC9,Q658P3,P42858,P01889 6 |
| Abnormality of facial soft tissue 0.2912853511238173 0.7485574821661649 0.4541239668224623 1.0 0.8934155882188091 121 O43933,Q9UBM7,P41229,O00170,Q13510,Q12965,P42356,O00754,Q13501,Q93008,Q14692,Q12768,P51798,Q92621,O75165,P10253,Q15043 17 |
| Ventricular fibrillation 0.5069066212936356 0.7484950897331646 0.4541615857324399 1.0 0.8934155882188091 6 P46976,Q99996 2 |
| Saccadic oscillation 0.6857907253269843 0.7475495676923254 0.4547318940530584 1.0 0.8934155882188091 3 P51798,P04062 2 |
| Opsoclonus 0.6857907253269843 0.7475495676923254 0.4547318940530584 1.0 0.8934155882188091 3 P51798,P04062 2 |
| Central hypothyroidism 0.441714039101341 0.74665566608135 0.4552714374317603 1.0 0.893438966914417 10 Q8N3U4,O00170,P27635,Q9NW13 4 |
| Abnormality of the calf musculature 0.3871676730029338 0.7447884039575764 0.4563996461379664 1.0 0.8950423493128571 16 O60231,P53007,Q12768,Q14118 4 |
| Poor speech 0.2771255520235154 0.7443478713614058 0.4566660470144326 1.0 0.8950423493128571 100 O76075,Q9NZ01,Q86V48,Q9Y4A5,Q14204,Q6P1N0,Q96N66,Q9NUQ7,Q13501,Q93008,O00584,Q9ULK4,Q2M389,P67870,Q14118,Q15043 16 |
| Wide mouth 0.3032284813458351 0.7415757123612746 0.4583444434431309 1.0 0.8972727280638746 73 Q9UBM7,Q9Y4A5,O75962,P16278,Q6PGP7,Q7Z6Z7,P15586,P42345,Q9H9Y6,Q9H490,Q9H2P0,Q9UQR1,Q8WXI9,Q96CW1,P11166 15 |
| Personality changes 0.3865921852625787 0.7412365575855119 0.4585500210651971 1.0 0.8972727280638746 16 P42858,P04062,P00403,Q13501,P49770,Q96RL7,Q9NR50,Q14232 8 |
| Brain imaging abnormality 0.324837068335651 0.7393416621438823 0.4596995569215509 1.0 0.8972727280638746 40 Q9H7D7,O14802,Q13501,P07602,Q9BU61,P35610,Q9NZJ7,P11166 8 |
| Hypoplastic heart 0.6982377097069409 0.7386533315488343 0.460117530920368 1.0 0.8972727280638746 4 Q9UQR1,Q12768 2 |
| Thickened calvaria 0.4397454343071064 0.7366327552183167 0.4613457100902982 1.0 0.8972727280638746 10 P16278,O00754,Q8IWS0 3 |
| Wide intermamillary distance 0.3722479150577824 0.7364214735946187 0.4614742403684717 1.0 0.8972727280638746 22 Q9H2P0,Q9UBM7,Q5SRE5,Q9NXE4 4 |
| Focal myoclonic seizure 0.4726619807037652 0.7359324819423101 0.4617717884379106 1.0 0.8972727280638746 8 O75503 1 |
| Upper limb asymmetry 0.6208023774145628 0.7356930244495479 0.4619175357466614 1.0 0.8972727280638746 2 P07437 1 |
| Desquamation of skin soon after birth 0.6822464416171425 0.7344946125108403 0.462647342467992 1.0 0.8978996012484712 3 P50747 1 |
| Lissencephaly 0.3059266275378772 0.7310268057633734 0.4647627799106169 1.0 0.8989857524855468 62 Q15392,Q9H7D7,Q14204,P42356,Q6ZXV5,P78527,Q9HC21,Q14118 8 |
| Atrophic scars 0.5025920899677064 0.7299802689309737 0.4654022453997011 1.0 0.8990538234400114 6 Q07954,Q02809,P53634 3 |
| Fatigue 0.2894489065119367 0.7269132054094136 0.467279127110296 1.0 0.899480611531541 89 Q658P3,Q14739,P07602,P01889,P06280,P11310 6 |
| Aplasia hypoplasia of the extremities 0.3404984140088151 0.7268850415417827 0.4672963813405615 1.0 0.899480611531541 196 Q15392,Q9UBM7,Q07864,Q99575,Q9NWH9,Q15125,Q07020,Q9UBC2,P61353,P41229,Q9Y4A5,Q14739,P46777,P18077,Q8NCM8,Q93008,P42766,P51798,Q14204,Q8IWS0,Q14839,P62899,P61313,P62847,P27635,Q96HA7,Q86V48,P42858,O75962,Q13510,P42345,Q2M1P5,O00443,Q96HP0 34 |
| Xerostomia 0.3976888558503709 0.7260007943593221 0.4678382835811039 1.0 0.8996381559697226 14 Q14739 1 |
| Hyperactivity 0.3213338283260445 0.725637719522244 0.4680608912352937 1.0 0.8996381559697226 166 Q9UBM7,P41229,O75503,P42858,Q15125,O00462,Q96F07,P15586,P42345,Q2M389,P54802 11 |
| Deep plantar creases 0.5957093932997182 0.7255641916482404 0.4681059796280402 1.0 0.8996381559697226 5 P42345 1 |
| Abnormality of the chin 0.2809944611102561 0.723139817343588 0.4695939887848162 1.0 0.9011857187157836 96 P41229,Q86V48,P19022,O00170,O14646,P16278,Q13155,O00754,P27635,P42345,P78527,Q9H490,P67870,Q8IY37,O75962,Q07954,Q96HA7 17 |
| Dilatation of the cerebral artery 0.4101423124534647 0.7229890713059562 0.4696865985046985 1.0 0.9011857187157836 12 P10253 1 |
| Chorioretinal dysplasia 0.5007333387863865 0.7220302129895276 0.470275902316728 1.0 0.9012428703849032 6 O43505,Q14118 2 |
| Proximal muscle weakness 0.3052499267774973 0.7219943401146333 0.4702979573142127 1.0 0.9012428703849032 55 Q99720,Q13510,P10253,Q13501,P13473,P11310,Q14118 7 |
| Slurred speech 0.4364753423536304 0.7200278605245626 0.4715078419353444 1.0 0.9027301148357836 10 P16278,Q9NYY8,Q96RL7 3 |
| Generalized hypopigmentation 0.4691748419334222 0.7197862991511877 0.4716565818318172 1.0 0.9027301148357836 8 O14617,Q6PGP7 2 |
| Laryngotracheomalacia 0.4988754684888613 0.7141003797828108 0.4751651111397592 1.0 0.9049198763028412 6 Q9Y4A5 1 |
| Abnormal iris pigmentation 0.3734248325296294 0.7119827681587803 0.4764754467213563 1.0 0.9049198763028412 20 O43933,O14617,Q86V48,O00203,Q9Y4P3,Q9UIG0,Q9Y4I1 7 |
| Abnormal patella morphology 0.3510960819967449 0.7107094213567583 0.4772643202155491 1.0 0.9049198763028412 27 Q93008,Q15125 2 |
| Chronic kidney disease 0.3247286811306195 0.7102478817701738 0.47755043312298 1.0 0.9049198763028412 37 P60891,Q9NZC9,Q92621 3 |
| Congenital hypothyroidism 0.5915989639403152 0.7098494641562143 0.4777974915416672 1.0 0.9049198763028412 5 Q96HA7 1 |
| Neoplasm of the colon 0.3129680589899939 0.7095524218472301 0.4779817326948139 1.0 0.9049198763028412 46 P46777,Q07020,P62899,P61313,P62847,P18077,P42766,P61353 8 |
| Acute myeloid leukemia 0.3244426308745595 0.7077287020052915 0.4791137498560727 1.0 0.905815300154893 37 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Bilateral sensorineural hearing impairment 0.3536689326803659 0.7064510128516897 0.4799077065806125 1.0 0.9065710475423616 26 P07602,Q9NZJ7 2 |
| Irregular femoral epiphysis 0.6744946492271023 0.7061441495551993 0.4800984983973531 1.0 0.9065710475423616 3 P26373,Q9NUQ7 2 |
| Large hands 0.39411908613747 0.7053676909308038 0.480581445090638 1.0 0.90672071962389 14 O43933,P41229,P08243 3 |
| Impaired distal proprioception 0.6737115423578641 0.7032961484591232 0.4818712104577758 1.0 0.90672071962389 3 O14802 1 |
| Temporal pattern 0.4649276579926522 0.700203851711972 0.4838000065319343 1.0 0.90672071962389 8 P21953,Q12768 2 |
| Thin lower lip vermilion 0.6121842496285304 0.7000128029940345 0.4839193089114824 1.0 0.90672071962389 2 Q86W42 1 |
| Abnormal cry 0.3931611063843874 0.6998463736507948 0.4840232504682353 1.0 0.90672071962389 14 P80404 1 |
| Sparse body hair 0.432210661765888 0.6984607822036828 0.4848890757272661 1.0 0.9071352864967878 10 P48449,P46778,P62304,P53634 4 |
| Abnormal scalp morphology 0.2913319988267521 0.6981891777004096 0.4850588936351778 1.0 0.9071352864967878 126 Q96ST3,Q15125,O14802,Q07020,Q96L58,O75179,Q8N3U4,P62304,Q9UP83,Q9BZG8,Q9H2P0,Q969E8,P61353,Q96EK5,O60216,P46777,P12955,O00754,P18077,Q6KC79,Q8IWV7,P42766,P61254,P46778,P19447,P48651,P62899,P61313,Q71SY5,Q7Z6Z7,P62847,P62244,Q9NXE4,Q9UJX6,O43933,P48449,P19022,P49327,P51532,Q9H9Y6,P60866,Q12768,O00443,Q96HP0,P62273,Q02750 46 |
| Acetabular dysplasia 0.4805072991408419 0.6979904302915491 0.4851831788042191 1.0 0.9071352864967878 7 P16278,O00203,P62244 3 |
| Facial telangiectasia 0.6860753297023953 0.6966004122440801 0.4860528977977767 1.0 0.9071352864967878 4 Q07864,P54132 2 |
| Abnormal blood ion concentration 0.2986725031749696 0.6956607680344902 0.4866413001770249 1.0 0.9071352864967878 74 O00170,Q658P3,Q6PGP7,P28288,Q99996,Q15904,Q13423,P51798,Q8WYQ5,O75962,O00443,O14745,Q15043 13 |
| Abnormality of the gastric mucosa 0.3790114334675547 0.6946745607581826 0.4872592740238393 1.0 0.9076450422366664 16 Q14739,P50851,Q9Y4P3,Q9UIG0,Q8N5K1,Q6PGP7,P49327 7 |
| Shallow acetabular fossae 0.685492809233506 0.6946012440622403 0.4873052323989502 1.0 0.9076450422366664 4 Q9NZC9,Q9NUQ7 2 |
| Hypercholesterolemia 0.4048937939195059 0.6942788516985969 0.4875073509637055 1.0 0.9076578592832468 12 Q15904 1 |
| Visual fixation instability 0.6850659057730498 0.6931370463664508 0.4882235507601629 1.0 0.9082638205218077 4 Q5KU26 1 |
| Semilobar holoprosencephaly 0.6839957186812313 0.6894698908447296 0.4905276145091934 1.0 0.9095816412802196 4 A5YKK6,Q8N3U4 2 |
| Cholangitis 0.609509658246658 0.6890410783644036 0.4907974174372413 1.0 0.9095816412802196 2 Q9Y276 1 |
| Hyperlordosis 0.3033849726236527 0.6885527736741435 0.4911047491358435 1.0 0.9096199118456324 50 Q9NZC9,Q99575,P04066,P16278,Q96HA7,Q14118 6 |
| Epicanthus 0.3263154471148244 0.6873037285436725 0.4918913497309345 1.0 0.9103514669184372 178 Q15392,Q9UBM7,Q15125,Q07020,Q9H490,Q5SRE5,P61353,P37268,Q9Y4A5,O00203,P46777,O00754,P18077,Q8NCM8,Q00839,P42766,Q14839,P62899,P61313,P62847,P27635,Q96HA7,O43933,Q86V48,P62266,Q2M1P5,O00443,O75962 28 |
| Follicular hyperkeratosis 0.585424419418547 0.6863865478887134 0.4924693850464108 1.0 0.9106421306471554 5 Q07954 1 |
| Skin dimple 0.3538368358033749 0.6861222173014077 0.492636041853645 1.0 0.9106421306471554 25 Q93008,P27635,Q15125 3 |
| Delayed ability to roll over 0.6820438696325215 0.6827941726417717 0.4947369124614491 1.0 0.9132607878822184 4 P51970 1 |
| Peters anomaly 0.6810177215057289 0.6792911369203811 0.4969534111109812 1.0 0.9160731198473244 4 P19022 1 |
| Abnormality of lipoprotein cholesterol concentration 0.3893667997140883 0.6780470346061545 0.4977418715752102 1.0 0.916415099651974 14 Q8N511,P37268 2 |
| Mitochondrial inheritance 0.6664684898929779 0.6771010291904704 0.4983418559643005 1.0 0.916415099651974 3 O75648,P00403 2 |
| Abnormal cardiac test 0.3760566400148416 0.676648780207536 0.4986288213783052 1.0 0.916415099651974 16 P10253 1 |
| Abnormal 3rd finger morphology 0.6654334825852222 0.6733800076090493 0.50070556427496 1.0 0.9174127404954636 3 Q71SY5 1 |
| Congenital onset 0.28276188653899 0.6724364529518557 0.5013058826726318 1.0 0.9174127404954636 117 Q07864,Q15125,O14802,Q96N66,P36404,P07602,Q9NZJ7,O00203,P42356,Q9BX67,O43505,Q9Y3D3,Q9HC21,O75352,Q7L0Y3,Q5KU26,Q00059,O95630,P27635,Q9BU61,O75970,A5YKK6,P11498 23 |
| Adrenal insufficiency 0.3426422232437882 0.6711328022615648 0.5021359320141312 1.0 0.9174127404954636 28 O43933,O00170,Q658P3,Q8IY37 4 |
| Abnormal thumb morphology 0.2834170216253634 0.6711324767115113 0.502136139386355 1.0 0.9174127404954636 118 Q9UBM7,P42858,P46777,Q07020,P62899,P61313,P62847,P18077,P42892,Q8NCM8,Q93008,P42766,Q2M1P5,Q92917,O75962,P61353 16 |
| Abnormal circulating branched chain amino acid concentration 0.4884852306261549 0.6700757197155385 0.5028095220441378 1.0 0.9174127404954636 6 P21953 1 |
| Dysgenesis of the hippocampus 0.6047548291233296 0.6696608235985004 0.5030740309870132 1.0 0.9174127404954636 2 Q9BPU6 1 |
| Abnormal motor nerve conduction velocity 0.3625543737462459 0.6695021949458129 0.5031751810211351 1.0 0.9174127404954636 22 P60891 1 |
| Abnormal pancreas morphology 0.3688056758814376 0.669295207222084 0.5033071835158434 1.0 0.9174127404954636 19 Q9UKG1,Q86V48,A5YKK6,Q9BXW9,Q8IYB7,P40763,Q9Y3E5,O95155 8 |
| Emg myopathic abnormalities 0.3423040351620929 0.6685265626421867 0.5037975320466592 1.0 0.9174127404954636 28 O60231,Q9BUK6,Q02809,P46976,Q13501,P53007,P06753,P13473 8 |
| Weak cry 0.4409844584366777 0.6627617618419028 0.5074831470324104 1.0 0.920518591710369 9 Q13510,P53007,Q6KC79 3 |
| Retinal dysplasia 0.4565424252821334 0.661832398046475 0.5080786403559512 1.0 0.92076988943712 8 O75369,O43505,Q14118,P53701 4 |
| Generalized myoclonic seizure 0.3120495042118157 0.6575865108967699 0.5108038646265403 1.0 0.9223244812413643 43 Q9BSV6,Q13510,P16278,Q96N66,P07602,P67870,Q9NZJ7 7 |
| Focal impaired awareness seizure 0.3498919974454707 0.6572934627202107 0.5109922391256267 1.0 0.9223244812413643 25 P19022,Q00610,Q14204,Q4G176,P43034,P42345,P49815,P67870,Q96CW1 9 |
| Abnormal pleura morphology 0.3439462230316647 0.6564844569898122 0.5115124649939391 1.0 0.9224288013021036 27 P01889,P14174,Q14739 3 |
| Abnormal mitral valve physiology 0.3144427892999935 0.6559450346122128 0.5118594906243548 1.0 0.9226966932580944 41 P46777,O00754,P01889,P06280,Q9BU61 5 |
| Tachycardia 0.3490398219137147 0.6510862763572139 0.5149907949337056 1.0 0.9245738803202144 25 P42892,Q99996 2 |
| Paroxysmal dystonia 0.6589783929970057 0.6503035649799414 0.515496154763293 1.0 0.9245738803202144 3 Q9BSV6 1 |
| Abnormal proximal phalanx morphology of the hand 0.4694611387057229 0.6497115523984957 0.5158785602820029 1.0 0.9245738803202144 7 P42345 1 |
| Diffuse white matter abnormalities 0.4377944301915192 0.6476011099111638 0.5172429792274558 1.0 0.9245738803202144 9 P16278 1 |
| Retinal dystrophy 0.2978598157749947 0.6473825051922332 0.5173844157465828 1.0 0.9245738803202144 54 O43933,Q8TC12,O43395,P27635,Q9Y4I1,P36404,Q92620,Q6P2Q9,P60891,Q14118 10 |
| Ketonuria 0.3898479799980251 0.6473608982172502 0.5173983964739657 1.0 0.9245738803202144 13 Q96RQ3,Q96I36,P53985 3 |
| Craniofacial osteosclerosis 0.6579216531611102 0.6465477933671706 0.5179246556053725 1.0 0.9245738803202144 3 P51798 1 |
| Decreased specific antibody response to protein vaccine 0.5988112927191693 0.6456703866468988 0.5184928427239468 1.0 0.9245738803202144 2 Q13546 1 |
| Decreased ldl cholesterol concentration 0.6574434825244644 0.6448504016410117 0.5190241360104875 1.0 0.9245738803202144 3 P37268 1 |
| Interstitial cardiac fibrosis 0.5985141158989612 0.6444779546146905 0.5192655486120223 1.0 0.9245738803202144 2 Q14315 1 |
| Orthopnea 0.5985141158989612 0.6444779546146905 0.5192655486120223 1.0 0.9245738803202144 2 Q14315 1 |
| Abnormal right atrium morphology 0.5985141158989612 0.6444779546146905 0.5192655486120223 1.0 0.9245738803202144 2 Q14315 1 |
| Pulmonary venous hypertension 0.5985141158989612 0.6444779546146905 0.5192655486120223 1.0 0.9245738803202144 2 Q14315 1 |
| Absent speech 0.2844065215811941 0.6439275571020723 0.5196224112042711 1.0 0.9245738803202144 122 Q9H7D7,Q96N66,P15586,Q53FT3,P60891,Q9Y4A5,Q2TAA5,Q00839,Q14118,Q15021,O75352,Q5KU26,P17480,Q13155,P27635,Q6ZXV5,Q86V48,P42858,Q96F07,O75962 20 |
| Neuroinflammation 0.6689564402601546 0.6384729809569747 0.523165836797193 1.0 0.9251418696348992 4 P49327,P01889 2 |
| Pleuritis 0.6689564402601546 0.6384729809569747 0.523165836797193 1.0 0.9251418696348992 4 P49327,P01889 2 |
| Orchitis 0.6689564402601546 0.6384729809569747 0.523165836797193 1.0 0.9251418696348992 4 P49327,P01889 2 |
| Chronic oral candidiasis 0.6688520380056409 0.6381226376875387 0.5233938514836789 1.0 0.92519316180518 4 P02786 1 |
| Serositis 0.3543199490765531 0.6357772579145158 0.5249216124334846 1.0 0.9267900932530972 23 P01889,P14174,Q92621 3 |
| Increased serum serotonin 0.596136701337297 0.634963457927203 0.5254522480184711 1.0 0.9267900932530972 2 P46100 1 |
| Minimal change glomerulonephritis 0.3690899576277235 0.6344559067308161 0.5257833339772746 1.0 0.9267900932530972 16 Q9NZC9,Q92621 2 |
| Abnormality of amino acid metabolism 0.6542806183115268 0.6336560657133826 0.5263053029329847 1.0 0.9267900932530972 3 P19447,P18074 2 |
| Flat nasal alae 0.6542806183115268 0.6336560657133826 0.5263053029329847 1.0 0.9267900932530972 3 P19447,P18074 2 |
| Abnormal oral physiology 0.2965227021690927 0.6322721249677224 0.5272090749616967 1.0 0.9269308452615612 63 Q14739,P42356,P15586,Q13501,P01889,P60891 6 |
| Absent testis 0.478868717741475 0.6298673339200156 0.5287813867579003 1.0 0.9277928368961048 6 Q8IY37,Q9NVI1 2 |
| Waddling gait 0.3403953411337294 0.6297534793722025 0.5288558868089219 1.0 0.9277928368961048 27 Q13510,Q9NZC9,Q14118,Q9NUQ7 4 |
| Elevated hepatic transaminase 0.2697018869356126 0.6291524014783696 0.529249287109238 1.0 0.9281327558547142 104 Q8N511,Q658P3,Q2TAA5,Q14739,P35573,Q13510,P08574,P11310,P28288,Q15904,P01889,Q15833,Q9Y3D3,P10253,P09001,P35579 16 |
| Movement abnormality of the tongue 0.6657750337908983 0.627821074876782 0.5301211585489731 1.0 0.928960899394714 4 P10253 1 |
| Abnormality of dental morphology 0.2951640612006746 0.6261346894973105 0.5312266006570108 1.0 0.9301967858585471 67 O43933,Q9UBM7,Q9NZC9,P42858,Q9H9Y6,Q12948,P51798,Q8IY37,Q96HA7 9 |
| Male pseudohermaphroditism 0.5685088245555039 0.6230794156449205 0.5332323358120306 1.0 0.9333573528577296 5 Q8IY37,P53701 2 |
| Abnormal hypothalamus morphology 0.6640402493947415 0.6220338676264425 0.5339195985626484 1.0 0.9342085862693836 4 P19022 1 |
| Bilateral tonic clonic seizure with generalized onset 0.3913381948965609 0.6210723511894218 0.5345520200927827 1.0 0.9349632586197693 12 Q13510,Q9BSV6,P11166 3 |
| Finger syndactyly 0.3079064774926374 0.6195110543173946 0.5355797418752046 1.0 0.9353532005927222 43 Q9UBM7,P27635,Q9UBC2,Q12768,Q96HP0,Q14692 6 |
| Ischemic stroke 0.5670703533671899 0.6177672698638699 0.5367287615100922 1.0 0.9356532460859488 5 Q9NZC9,O00443 2 |
| Functional abnormality of male internal genitalia 0.3289489665150185 0.6174179262740803 0.5369591010017878 1.0 0.9356532460859488 31 Q8WWQ0,Q658P3,P54132,O00170,P04062,Q9Y4P3,Q9BXW9,Q9UIG0,Q8N5K1,Q13423,Q8IY37,Q9BZH6,Q9NVI1 13 |
| Depletion of mitochondrial dna in muscle tissue 0.6622069882112487 0.6159346737616741 0.5379376358107821 1.0 0.936656205574654 4 Q9UBX3,Q96RR1 2 |
| Short digit 0.3101586223930432 0.6111953189305316 0.54107028200327 1.0 0.9407014738344064 162 Q9UBM7,Q99575,Q07020,P61353,P41229,Q14739,Q8TC12,P46777,P18077,Q8NCM8,Q93008,P42766,P51798,Q8IWS0,P62899,P61313,P62847,P27635,Q96HA7,P48449,Q86V48,P42858,Q13510,P42345,Q12768,Q2M1P5,O00443,Q96HP0 28 |
| Abnormal c reactive protein level 0.4740019045706028 0.6097367701361387 0.5420361927545079 1.0 0.9409732113949616 6 P14174 1 |
| Uveitis 0.3886308566848563 0.606636126812726 0.5440924195087358 1.0 0.9412262679530212 12 P01889 1 |
| Abnormality of the vertebral endplates 0.4442283801957818 0.60627111617057 0.544334735386754 1.0 0.9412262679530212 8 O14802,Q96HA7,P51798,O15228 4 |
| Abnormality of the maxilla 0.3166469350966784 0.6061606290751258 0.5444080938981335 1.0 0.9412262679530212 35 P41229,Q9H7D7,O95630,Q14739,Q9H9Y6,Q12948,Q9BUR4 7 |
| Hypocalcemia 0.3638684375356331 0.6031447284891267 0.5464124131209309 1.0 0.9439878515790442 16 P51798,Q8WYQ5 2 |
| Limb girdle muscle weakness 0.3394374743812472 0.6010272248515105 0.5478218533600416 1.0 0.945009811843742 26 P46976,P07602,P53007,P06753,Q9NZJ7,A6NHR9,Q14118 7 |
| Abnormality of the frontal hairline 0.2851963879595806 0.5985232586530093 0.5494908443795863 1.0 0.9461418279706284 82 O43933,P46777,Q07020,P62899,P61313,P62847,P18077,O00754,Q9H9Y6,P42766,O00443,Q96HP0,P61353 13 |
| Abnormal circulating androgen level 0.386874081486187 0.5973048135998135 0.5503038912739706 1.0 0.946840411003956 12 O14802,Q13423,Q8IY37,Q9BZH6 4 |
| Infantile spasms 0.3155011682075183 0.5965156285347124 0.5508308164589693 1.0 0.9473963987117086 35 P19022,O60231,Q9BSV6,Q9Y3C6,Q13510,P42356,Q8N442,P43034,P49815,Q8IY37,Q9UBX3,Q13813 12 |
| Spinal cord compression 0.6432818073721689 0.5951940679113888 0.5517137550991031 1.0 0.9478629887123932 3 Q96L58,O60333 2 |
| Tibial bowing 0.6432818073721687 0.5951940679113872 0.5517137550991043 1.0 0.9478629887123932 3 P21333,Q32P28 2 |
| Irregular hyperpigmentation 0.2886402914178213 0.5939065048397582 0.5525746480798102 1.0 0.9489913331817648 76 P41229,Q9NZC9,P42858,Q658P3,Q14739 5 |
| Amenorrhea 0.3110726664148706 0.5912328345059621 0.5543644254405997 1.0 0.9498036662856252 37 O60216,O43933,Q8WWQ0,O00170,Q12830,Q9BUK6,Q8N5K1,Q6KC79,P49770,O60879,Q13144,Q8IY37,Q9NR50,Q9BZH6,A6NHR9,O75616,Q14232,Q15031 18 |
| Abnormal aortic arch morphology 0.3796221033731503 0.5912173116832162 0.554374824823626 1.0 0.9498036662856252 13 Q8WYQ5 1 |
| Anemia of inadequate production 0.2913247620588716 0.5875930364705554 0.5568054861899867 1.0 0.950638525632482 68 P46777,Q07020,P62899,P61313,P62847,P18077,P28288,Q15904,P42766,P61353 10 |
| Weight loss 0.2842273657869603 0.5871241638403089 0.5571203199435462 1.0 0.9508268602854428 82 P42858,Q99720,P42892,P07602,P01889,P11310 6 |
| Small hand 0.3199428221431348 0.5862933161302208 0.5576784218494315 1.0 0.9510810649956004 33 O60216,P42858,Q14204,Q96ST3,Q12830,Q7Z6Z7,Q6KC79,Q93008,Q9BZG8,Q9H2P0,P18583,Q96EK5 12 |
| Leukodystrophy 0.2922496297628337 0.5853457100029378 0.5583152853260658 1.0 0.9518180276790904 60 O43933,P80404,P04350,O14802,Q13155,P11498,P15289,Q53FT3,Q9NPL8,P07602,Q9BU61,Q86Y39,Q14118,Q9NZJ7 14 |
| Narrow palpebral fissure 0.3566003369362523 0.5828238488198394 0.560011888555116 1.0 0.9521136065515928 18 Q9H2P0,Q8IWS0,P27635,Q8WYQ5,Q96HP0 5 |
| Abnormality of the diencephalon 0.3220559794823149 0.5823091292727182 0.5603584773217622 1.0 0.9521136065515928 32 P19022,Q9Y4P3,Q9UIG0,Q9UPT5,Q2M1P5,Q92917,Q9BU61,Q9BZH6,O00443,P11166 10 |
| Retinal detachment 0.3660940639373772 0.5798437312075843 0.5620200039778092 1.0 0.9521136065515928 15 P04439,Q02809,P49327,O43505,Q14118 5 |
| Repetitive compulsive behavior 0.6506429671584749 0.5778695786152335 0.563352175407793 1.0 0.9521136065515928 4 P49815,Q9H7D7 2 |
| Skin ulcer 0.3188712650002275 0.5775922267996264 0.5635394561787912 1.0 0.9521136065515928 33 Q14739,Q8IZA0 2 |
| Abnormal renal resorption 0.6379310344827518 0.5767589056422089 0.5641023336235311 1.0 0.9521136065515928 3 P16930,Q9Y276 2 |
| Renal fanconi syndrome 0.6379310344827518 0.5767589056422089 0.5641023336235311 1.0 0.9521136065515928 3 P16930,Q9Y276 2 |
| Microphallus 0.6494463570900446 0.573972517329519 0.5659863989042586 1.0 0.95335897409634 4 Q9Y4A5,Q8NI27 2 |
| Curly hair 0.3882914173590204 0.5731900460464836 0.5665160233220337 1.0 0.9535669102214914 11 Q6PGP7,P18583,P42345,Q93008 4 |
| Abnormal renal tubule morphology 0.3415199506098111 0.5706756041434201 0.5682195587643313 1.0 0.95573543006345 24 Q12965,Q9BU61,P06280 3 |
| Hirsutism 0.2906440769126528 0.5687965869685092 0.5694941911340377 1.0 0.956997346867684 60 Q86V48,O00170,P16278,Q13155,P27635,P15586,P54802,Q8IYA6,Q9H2P0,P53634 10 |
| Syndactyly 0.2679773276113966 0.5671632586859887 0.5706032677590822 1.0 0.9576659176216508 97 Q9UBM7,O75962,Q9H2P0,Q15125,O14802,P27635,Q8NCM8,Q9UBC2,Q93008,Q12768,Q2M1P5,Q8IYA6,Q96HP0,Q14692,P37268,P11166 16 |
| Sensorimotor neuropathy 0.3267725954514965 0.5653108827788896 0.5718623277823933 1.0 0.9585209953632066 29 P07602,Q5KU26,Q9NZJ7 3 |
| Cerebellar cortical atrophy 0.5783060921248157 0.565109200030806 0.5719994912432447 1.0 0.9585209953632066 2 Q9Y263 1 |
| Localized hirsutism 0.462624894944978 0.5633126615739815 0.5732219977958222 1.0 0.9586003840837328 6 P27635,Q8IYA6 2 |
| Shoulder dislocation 0.6450161153219688 0.5596156689958133 0.5757416148450096 1.0 0.961430591743696 4 Q6ZXV5,P46821 2 |
| Aplasia hypoplasia of the cerebellum 0.2979329658754843 0.5568897220027029 0.577602777333603 1.0 0.9629590655365527 150 Q9UBM7,Q9H7D7,Q15125,O14802,Q9Y4I1,P53007,Q9H490,Q92917,Q9Y4A5,Q9NWX6,P42356,P43034,Q9BX67,Q8NCM8,Q93008,Q9HC21,Q14118,P80404,Q9BSV6,Q14204,P27635,P08243,Q12948,Q8WVX9,Q9NXE4,Q16625,P78527,Q12768,Q8IY37,Q2M1P5,Q96HP0 31 |
| Spastic tetraplegia 0.3009407552826187 0.5562140371944608 0.5780645442917367 1.0 0.9629590655365527 43 P08243,P16278,P42356,P04066 4 |
| Radial bowing 0.6434730895034217 0.5546421331838673 0.5791394640630239 1.0 0.9629590655365527 4 P21333,Q96L58,Q32P28 3 |
| Gingival bleeding 0.378533944775024 0.5534218416714249 0.5799745861587744 1.0 0.9629590655365527 12 Q14980,P49257,Q14108 3 |
| Aplasia hypoplasia involving bones of the upper limbs 0.3010821898849917 0.5533112400674842 0.5800503056777679 1.0 0.9629590655365527 155 Q9UBM7,Q07020,Q9UBC2,P61353,P41229,Q14739,P46777,P18077,Q8NCM8,Q93008,P42766,P51798,Q14204,Q8IWS0,P62899,P61313,P62847,P27635,Q96HA7,P42858,Q13510,P42345,O00443,Q96HP0 24 |
| Vertebral segmentation defect 0.3228697445216809 0.551670125585122 0.5811743814537349 1.0 0.9629590655365527 30 Q15125 1 |
| Hand apraxia 0.5744427934621115 0.5503491526143471 0.5820799170870719 1.0 0.9629590655365527 2 P51608 1 |
| Abnormal dental root morphology 0.3779309283457042 0.5502771515255012 0.5821292932416247 1.0 0.9629590655365527 12 O43933,Q96HA7 2 |
| Deviation of the 2nd finger 0.6420606405982756 0.5501018736332742 0.5822495016612712 1.0 0.9629590655365527 4 Q71SY5,Q9Y3E5 2 |
| Hypoplastic hippocampus 0.6296095958225154 0.5484718941556266 0.583367922756157 1.0 0.9631644201888956 3 Q96RL7 1 |
| Supernumerary nipple 0.3834339464763852 0.5484112521175677 0.5834095520008453 1.0 0.9631644201888956 11 P19022,Q9Y4A5 2 |
| Short nose 0.2652090287322953 0.5470470284353682 0.5843464231910542 1.0 0.9638550988733636 106 Q15392,Q5KU26,Q9Y4A5,O95630,Q9H2P0,P42345,P43034,P42892,Q9H490,Q12768,Q2M1P5,O75962,Q96HA7 13 |
| Pruritus 0.3444378906918646 0.5468964325011677 0.5844498867980237 1.0 0.9638550988733636 22 Q14739 1 |
| Abnormality of the choanae 0.3094373172985698 0.5458452142420768 0.5851723403240503 1.0 0.96470432984628 35 Q9UBM7,P42356,Q93008 3 |
| Increased density of long bones 0.5726597325408632 0.5435848728684046 0.5867271717165259 1.0 0.9647189277045686 2 P21333 1 |
| Muscle spasm 0.2871362323068546 0.5417075196683288 0.5880200086915965 1.0 0.9648093374580022 53 Q709C8,P53985,Q13501,Q12768,P06280,P13473,P11310 7 |
| Intestinal polyp 0.3312513934388676 0.5414982791357253 0.5881641834638236 1.0 0.9648093374580022 26 P42892 1 |
| Iron deficiency anemia 0.5456684255846633 0.5402355543571208 0.5890345959987164 1.0 0.9648093374580022 5 P49327,P46100,P28288 3 |
| Cystoid macular edema 0.6386157028956456 0.5390787506497116 0.58983251711676 1.0 0.9648093374580022 4 P04439 1 |
| Abnormality of mouth size 0.2823300559351094 0.5371461582357416 0.5911666590669378 1.0 0.9663620949374802 130 Q15392,Q9UBM7,Q86V48,Q9Y4A5,P42858,P16278,P15586,P42345 8 |
| Aplasia hypoplasia involving bones of the thorax 0.3079880765678909 0.5338354655015893 0.5934553741695967 1.0 0.9684112321892424 35 Q8NCM8,Q86V48,Q12768,Q14739 4 |
| Abnormal finger phalanx morphology 0.3184840074041882 0.5328884049832882 0.5941108321120034 1.0 0.9684112321892424 184 Q9UBM7,Q15125,Q07020,Q92917,P61353,P53634,P41229,Q14739,P46777,P18077,Q8NCM8,Q93008,P42766,P51798,O75531,Q8IWS0,P62899,P61313,P62847,P27635,Q96HA7,O43933,Q86V48,P42858,P42345,Q12768,Q2M1P5,Q96HP0 28 |
| Decreased cd4 cd8 ratio 0.6247027435496714 0.5320211520392676 0.5947113456944508 1.0 0.9684112321892424 3 O00203 1 |
| Postnatal growth retardation 0.2865469002657274 0.5319141820541885 0.5947854343281715 1.0 0.9684112321892424 66 O14646,Q12768,P17900,Q15125 4 |
| Vestibular dysfunction 0.3180573319346162 0.5317400956136605 0.5949060175984768 1.0 0.9684112321892424 31 P35251,O00170,Q14980,P46976,P49327,P01889,P06280,Q15043 8 |
| Restrictive cardiomyopathy 0.5690936106983668 0.5301496204459348 0.5960081977450342 1.0 0.96953523313201 2 O95235 1 |
| Mandibular prognathia 0.2890821946521922 0.5301218256511742 0.5960274674750021 1.0 0.96953523313201 49 P41229,Q13155,P16278,O00754,P27635,P67870,Q96HA7 7 |
| Renal cortical cysts 0.4538341944102722 0.5281110725205859 0.5974222461704539 1.0 0.9696030821967648 6 O43933 1 |
| Osteolysis 0.3174663643139775 0.5271470472863914 0.5980914775624862 1.0 0.9696030821967648 31 Q14108,P53634,O00754,Q13501 4 |
| Abnormal lumbar spine morphology 0.4114412236690193 0.5252154236149982 0.5994334441200839 1.0 0.9699847134404004 9 O00754 1 |
| Abnormality of bone marrow cell morphology 0.2859049461171825 0.521420541312412 0.6020738449966336 1.0 0.9723299166854212 58 Q9NZC9,Q14108,O00754,Q14739 4 |
| Renal cyst 0.2858090495200624 0.5211953991463265 0.6022306588881499 1.0 0.9723299166854212 64 O43933,Q9UBM7,O60231,Q9Y4A5,Q86V48,Q9Y4P3,Q9UIG0,Q6PGP7,P61619,Q6KC79,Q9BX67,Q8NCM8,P49815,O43505,Q9UQR1 15 |
| Eyelid myoclonus 0.3961111392696058 0.5210287040126779 0.6023467756622958 1.0 0.9723299166854212 10 Q13510,P67870 2 |
| Abdominal pain 0.2666910555834811 0.520246766089295 0.6028915938610451 1.0 0.9725340110548224 95 Q9NWH9,P07686,Q14980,Q12965,Q9P2R3,P49327,Q8IYB7,P42892,P49815,P40763,Q13423,P01889,P40692,Q92621,P06280,Q14108,P14174,P52701 18 |
| Bilateral polymicrogyria 0.4100667979690936 0.5189935957655102 0.6037652072331952 1.0 0.9729290838106832 9 P42356,P67870 2 |
| Gingivitis 0.6315356702793449 0.5166555739780925 0.6053966137102975 1.0 0.973871576864766 4 P53634 1 |
| Abnormal nervous system electrophysiology 0.328099437968573 0.5146574574645592 0.6067924066896364 1.0 0.9751047005531004 202 O14773,O75503,Q15125,Q96N66,P07602,P60891,Q14108,Q9NZJ7,P50897,Q2TAA5,Q99720,P42356,Q9NUQ7,Q00839,Q2M389,Q14118,O14617,Q9NZ01,Q14204,Q8IWS0,Q13155,P27635,P08243,O43933,P48449,Q86V48,Q96F07,Q13501,Q96HP0 29 |
| Eeg with generalized slow activity 0.3941997614277749 0.5119498598241277 0.6086861015279699 1.0 0.9754211595362908 10 O75503,Q13501,P11166 3 |
| Unsteady gait 0.2903790253400838 0.5112406718510432 0.6091825424013275 1.0 0.9754211595362908 47 Q96CW1,O75503,P42858,Q96F07,P49770,Q9NR50,Q14232,Q14118,P11166 9 |
| Vaginal fistula 0.4083075224117096 0.5110559974720122 0.609311846437028 1.0 0.9754211595362908 9 Q8NCM8,Q9H9Y6 2 |
| Akinesia 0.3938718949030332 0.5103963148456535 0.6097738381163862 1.0 0.9754211595362908 10 Q709C8,Q04637,P04062,Q6Y7W6,O75165 5 |
| Neonatal hypotonia 0.2841873716809212 0.51037525419648 0.609788589961302 1.0 0.9754211595362908 54 O43933,Q2TAA5,P27635,P43034,P10412,Q9H2P0,P60891 7 |
| Abnormality of the zygomatic bone 0.2776211350779918 0.510200983789629 0.6099106630336981 1.0 0.9754211595362908 82 O43933,Q8TC12,Q14739,Q15125,O00754,Q9H9Y6,Q12948,Q9H490,Q2M1P5,O75531,Q96HA7 11 |
| Nausea 0.3455413517593088 0.5100562208714239 0.610012074930391 1.0 0.9754211595362908 17 P06280 1 |
| Generalized dystonia 0.6179298641580149 0.5096075930837612 0.6103264032104601 1.0 0.9754211595362908 3 P04350 1 |
| Abnormality of thyroid physiology 0.274543900358205 0.5094820461289227 0.6104143797793151 1.0 0.9754211595362908 86 P04066,P50851,O14802,Q9BUK6,P40763,Q13423,Q8N3U4,Q9BZH6,Q658P3,Q9NW13,Q9UIG0,P49815,Q93008,O95470,P27635,Q96HA7,Q9NVI1,O00443,Q9NZC9,Q86V48,O00170,Q9Y4P3,Q6PGP7,O95155,P00403 25 |
| Vertebral compression fracture 0.3535937057831044 0.5092797397449319 0.6105561570769211 1.0 0.9754211595362908 15 Q14108,O00170 2 |
| Abnormal esophagus physiology 0.3423984083782185 0.5069157522396734 0.6122139325529474 1.0 0.9754384596063536 228 Q9UBM7,Q9H7D7,P15586,P05067,P07602,P67870,P06280,P60891,P61916,Q14108,Q9NZJ7,Q99720,Q14739,Q8IZA0,P42356,Q93008,O75165,Q9BSV6,Q14204,P27635,Q6ZXV5,O15118,P01889,Q86V48,P42858,Q13510,Q96F07,Q13501,Q12768 29 |
| Areflexia of lower limbs 0.341791875327724 0.5066708186695678 0.6123858090124026 1.0 0.9754384596063536 20 P60891,Q15120,Q13501 3 |
| Broad neck 0.3747600454181619 0.5047916331674674 0.61370519298576 1.0 0.9760914957888464 11 Q07864,Q8IY37 2 |
| Urogenital fistula 0.392415648824541 0.5035097349688105 0.61460593768634 1.0 0.977189809953418 10 Q8NCM8,Q9H9Y6 2 |
| Nemaline bodies 0.6158949185419265 0.5029419740537314 0.6150050691769304 1.0 0.9774901082405298 3 O43676 1 |
| Abnormality of pelvic girdle bone morphology 0.2944494104588188 0.501978906901146 0.6156823584805413 1.0 0.9779631759103624 151 Q9UBM7,Q9H7D7,Q99575,Q15125,Q14739,Q8IZA0,P16278,O00754,Q9NUQ7,Q8NCM8,Q93008,P51798,Q8IWS0,Q14839,P01889,Q9NZC9,Q86V48,P42858,Q12768 19 |
| Dysuria 0.4201757899951486 0.5010596360714937 0.6163291529716302 1.0 0.9779631759103624 8 O00170,P01889,P00492 3 |
| Webbed neck 0.298794611549933 0.500056286456264 0.617035444990456 1.0 0.9781986356660856 39 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Hyperhidrosis 0.3035167561109016 0.4970504124704077 0.6191535016810277 1.0 0.9797292815912516 35 P01889,P04066 2 |
| Abnormality of the hairline 0.2599504365559887 0.4939885132331478 0.6213142918479202 1.0 0.9811447495927246 99 O43933,P19022,P46777,Q07020,P62899,P61313,P62847,O00754,P18077,Q9H9Y6,Q12768,P42766,O00443,Q96HP0,P61353 15 |
| Ocular pain 0.6237930745590137 0.4925065564894858 0.6223612880991791 1.0 0.9817976343308732 4 Q15043 1 |
| Abnormal pineal morphology 0.5313680491269519 0.490189363210622 0.6239999069592248 1.0 0.9818757971027632 5 Q9H7D7,Q12830 2 |
| Pineal cyst 0.5313680491269519 0.490189363210622 0.6239999069592248 1.0 0.9818757971027632 5 Q9H7D7,Q12830 2 |
| Abnormality of the pineal gland 0.5313680491269519 0.490189363210622 0.6239999069592248 1.0 0.9818757971027632 5 Q9H7D7,Q12830 2 |
| Abnormal urine protein level 0.2828741877259274 0.4901166218494172 0.6240513766868543 1.0 0.9818757971027632 63 O43933,Q9NZC9,Q92621,P06280,Q14108,P35579 6 |
| Ectopic anus 0.3444275243659042 0.4894192766346703 0.6245448915047869 1.0 0.9818757971027632 16 Q8NCM8,Q12768 2 |
| Short chin 0.3601094665569256 0.4871944865731407 0.6261205121290003 1.0 0.9827259489830258 13 P78527,P42345 2 |
| Abnormality of the spinal cord 0.2794979946236908 0.4819717060658262 0.6298260458898564 1.0 0.9852157763600076 74 P16278,O00754,P05067,Q12768,P60891 5 |
| Abnormal liver morphology 0.3488268790400551 0.479138732421923 0.6318399368428977 1.0 0.9857725207174066 244 P04066,Q9NWH9,P28288,P15586,P07602,Q15833,P61916,Q14108,P53634,Q9NZJ7,Q8N511,Q658P3,Q14739,P16278,O00754,Q9BX67,Q15904,Q8NCM8,Q96RQ3,P51798,P54802,P11717,Q86Y39,P10253,Q9HC21,O14617,P10619,Q9NPL8,O15118,Q9BU61,P11310,O43933,Q86V48,P07686,Q13510,Q6PGP7,Q96I36,O00443,Q96HP0,P35610,P09001,P14174 42 |
| Abnormal penis morphology 0.3279539753552181 0.4744934738563393 0.6351480506846285 1.0 0.9857725207174066 207 Q07864,Q9UBM7,Q07020,O14802,O43395,P42892,Q6P2Q9,Q9BZH6,P61353,Q8WXI9,P37268,P41229,Q9Y4A5,P46777,P18077,Q8ND04,P43034,Q8NCM8,Q93008,O43505,P42766,Q14118,Q8IWS0,Q14839,P62899,P61313,Q71SY5,Q7Z6Z7,P62847,P27635,Q12948,Q96HA7,Q9UBX3,P51970,O43933,P48449,Q86V48,P19022,O00170,Q6PGP7,P42345,Q9H9Y6,P78527,Q92620,Q12768,Q8IY37,Q2M1P5,Q9BUR4 48 |
| Foot dorsiflexor weakness 0.3106027952742456 0.4742852669672981 0.6352964962388512 1.0 0.9857725207174066 31 Q99720 1 |
| Metaphyseal widening 0.3274072855237984 0.4734709810043032 0.6358771995636918 1.0 0.9857725207174066 24 P16278,Q8NCM8,Q14739 3 |
| Misalignment of incisors 0.5260954757698794 0.4721365226107865 0.6368293448993612 1.0 0.9857725207174066 5 Q96N67,P46100,Q8WXI9 3 |
| Abnormal morphology of the great vessels 0.321750514519256 0.4713248596003052 0.6374087656773137 1.0 0.9857725207174066 197 Q15392,Q9UBM7,Q9H7D7,Q07020,P42892,P61353,Q9Y4A5,P46777,P18077,Q93008,P42766,P51798,Q14839,P62899,P61313,P62847,P27635,Q12948,Q6ZXV5,P01889,Q8WYQ5,P47985,O43933,P19022,Q86V48,P42858,Q6PGP7,Q12768,Q96HP0 29 |
| Abnormal tongue physiology 0.3373229682627461 0.4712109742531675 0.6374900825993175 1.0 0.9857725207174066 19 P10253 1 |
| Celiac disease 0.6167058605738913 0.4707606281858786 0.6378116834408252 1.0 0.9857725207174066 4 P40763 1 |
| Abnormal morphology of the olfactory bulb 0.6164584379229304 0.4700078645564378 0.6383493987380338 1.0 0.9857725207174066 4 A6NHR9 1 |
| Cerebellar dysplasia 0.6161165625928902 0.4689684600761988 0.639092180486533 1.0 0.9857725207174066 4 P42356,P60953,Q8NI27 3 |
| Intellectual disability moderate 0.2726182236702854 0.4688133755863287 0.6392030384046588 1.0 0.9857725207174066 84 Q9NZ01,Q14204,Q8TC12,Q15125,Q96N66,Q9NUQ7,Q93008,Q9ULK4,Q2M389,P67870,P60891 11 |
| Feeding difficulties in infancy 0.3090536354728916 0.4680085782422156 0.6397784552369699 1.0 0.9857725207174066 177 Q9UBM7,Q9H7D7,P07602,Q9H490,P67870,P60891,Q9H2P0,Q9NZJ7,P37268,P21953,Q99720,P15289,Q96RQ3,Q8NCM8,Q9Y3D3,P10253,Q9BSV6,Q14204,Q8IWS0,P27635,Q9NPL8,Q9BU61,P47985,O43933,Q86V48,Q9H9Y6,Q12768,Q2M1P5,O75962 29 |
| Posterior embryotoxon 0.3367493672752298 0.4677274222464322 0.6399795282462568 1.0 0.9857725207174066 19 O43933,Q8WYQ5 2 |
| Type ii lissencephaly 0.604934601664676 0.467611659156763 0.6400623256760312 1.0 0.9857725207174066 3 O43505,Q9Y5P6 2 |
| Abnormal circulating progesterone level 0.4379363780516087 0.4661335958054338 0.6411198770755526 1.0 0.9857725207174066 6 Q9NR50,Q14232,P49770 3 |
| Decreased circulating progesterone 0.4379363780516087 0.4661335958054338 0.6411198770755526 1.0 0.9857725207174066 6 Q9NR50,Q14232,P49770 3 |
| Generalized neonatal hypotonia 0.4377441311707338 0.465398542837706 0.6416460775001998 1.0 0.9857939901845436 6 Q9H2P0,Q12830 2 |
| Multiple cafe au lait spots 0.3370506648293305 0.4640089889965242 0.6426413054301792 1.0 0.9858701852114689 18 P41229,P52701,P40692,Q02750,Q9NVI1 5 |
| Progressive 0.261187585033826 0.4629357332066751 0.6434104334233388 1.0 0.9858701852114689 109 O76075,Q709C8,Q99720,Q13510,Q12965,P28288,P15586,Q13501,P08243,Q12768,P26358,P54802,Q15043 13 |
| Wide nose 0.2904057132991609 0.4625624957061347 0.643677996467859 1.0 0.9858701852114689 43 O95630,O00170,P04066,Q9HCK8,Q6PGP7,P43034,Q8NCM8,Q96HA7 8 |
| Abnormal cerebral vascular morphology 0.278370162787468 0.461807641554733 0.6442192704913254 1.0 0.9858701852114689 72 Q9NZC9,P27635,P05067,Q96RQ3,P06280,Q96HA7,P10253,O00443,P51970 9 |
| Preauricular skin tag 0.3354457906372359 0.459830737623899 0.645637718476852 1.0 0.9858701852114689 19 Q00839,Q12768,Q9H9Y6 3 |
| Psychosis 0.3107355646967969 0.4594140144136781 0.6459368862452428 1.0 0.9858701852114689 30 P61916,O15118,P26358,Q13501 4 |
| Abnormality of the columella 0.3351975650723486 0.4583302611261719 0.6467151864763123 1.0 0.986734132565926 19 Q8TC12,Q13155,Q8IYA6,O75962,Q9UQR1,O00443 6 |
| Abnormal muscle fiber morphology 0.2786819289892004 0.456048797690513 0.6483548883446604 1.0 0.9879612862081574 69 Q9BUK6,O43676,Q96RL7,P05067,P53007,Q9Y5L0,O96008,Q99720,Q14118,Q14204,Q02809,Q93100,Q9H2D1,O60231,P46976,Q13501,P00403,P06753,O75648 19 |
| Abnormality of the antihelix 0.3585199557347708 0.4513824682267062 0.6517139167585757 1.0 0.98961058364129 12 O75962,P27635 2 |
| Subcutaneous hemorrhage 0.2921243171083067 0.4508043150606228 0.6521305910492425 1.0 0.98961058364129 40 O00170,P04062,Q14980,Q9BXW9,Q96L58,P12955,Q02809,P49327,P40763,P49257,Q02750,P51798,Q15833,Q14108,Q16625,P35579 16 |
| Pulmonary artery atresia 0.6100399948089765 0.450636034281506 0.6522518912167741 1.0 0.98961058364129 4 Q8WYQ5 1 |
| Impaired social interactions 0.2805670288438999 0.4499181105827422 0.652769488349453 1.0 0.98961058364129 49 Q5KU26,Q709C8,Q2TAA5,Q9NPL8,P53007,Q9BU61,Q9H2P0,Q86Y39,Q96CW1,P11166 10 |
| Solitary median maxillary central incisor 0.6097340834373448 0.4497203498324464 0.6529120961122916 1.0 0.98961058364129 4 A5YKK6 1 |
| Male hypogonadism 0.4077925723150597 0.4489767066460528 0.6534484600455692 1.0 0.98961058364129 8 Q9BZH6,Q8N5K1,O00170 3 |
| Decreased specific antibody response to vaccination 0.598989298454212 0.4488674453620702 0.653527281501747 1.0 0.98961058364129 3 Q13546,P50851 2 |
| Hydroxyprolinuria 0.5462109955423491 0.447123276734417 0.6547860534925654 1.0 0.9900470253961046 2 O00469 1 |
| Abnormal circulating sex hormone concentration 0.3320282554471027 0.4459443921906712 0.6556374145703505 1.0 0.9902942373148346 20 Q9NW13,O14802,P49770,Q13423,Q8IY37,Q9NR50,Q9BZH6 7 |
| Abnormality of adrenal physiology 0.3022329201777819 0.4452290522573699 0.6561542335761186 1.0 0.9904094259400568 33 O43933,O00170,Q658P3,Q8IY37 4 |
| Cafe au lait spot 0.2765876431358919 0.4419470818926916 0.6585274995705248 1.0 0.9930244390215276 52 P42858,P41229,Q658P3 3 |
| Prominent nasal tip 0.6067493046788732 0.4408230634411823 0.659341095352264 1.0 0.9930872242287084 4 Q9H7D7 1 |
| Respiratory failure requiring assisted ventilation 0.4190294323397269 0.4405494248005366 0.6595392236656425 1.0 0.9930872242287084 7 P60891 1 |
| Ventriculomegaly 0.3252912209084784 0.4403329635701347 0.6596959695432583 1.0 0.9930872242287084 207 Q15392,Q9UBM7,Q9H7D7,Q15125,P07602,O00584,P67870,Q5SRE5,Q9H2P0,Q9NZJ7,P16278,P43034,Q9BX67,Q8NCM8,Q00839,Q93008,P26358,Q9Y3D3,Q9HC21,Q14118,Q5KU26,Q9BSV6,Q14204,P17480,Q14839,Q9NPL8,P08243,Q6ZXV5,Q8WVX9,Q9BU61,P51970,O75970,Q86V48,P42858,Q96F07,P42345,Q12768,Q2M1P5 38 |
| Nonprogressive 0.4187632566962637 0.4395072487460603 0.6602940308325467 1.0 0.9930872242287084 7 Q9NQZ5,Q9Y399 2 |
| Muscle hypertrophy of the lower extremities 0.4052848525370368 0.4386284580785615 0.6609307731523875 1.0 0.9930872242287084 8 P53007,Q14118 2 |
| Paralysis 0.2824524590379285 0.4386122779678075 0.6609424990221346 1.0 0.9930872242287084 47 P42356,P17900,Q13501,P10253,Q9HC21 5 |
| Hyperpigmentation of the skin 0.2544640119736576 0.4383501283196928 0.6611324927915363 1.0 0.9930872242287084 100 P54132,Q9BXW9,Q9Y4I1,Q13423,Q9Y5L0,P41229,Q658P3,Q9NW13,Q14739,Q8ND04,P49815,O75531,P52701,P19447,Q12830,Q7Z6Z7,Q9UJX6,Q9NVI1,Q9NZC9,O00170,P42858,P04062,Q6PGP7,P31040,P42345,P40692,Q9BUR4,O75648,Q02750 29 |
| Abnormal ilium morphology 0.3293301226072678 0.4376666202500742 0.6616279700348808 1.0 0.9931215270807944 21 P16278,O00754,P01889 3 |
| Demyelinating peripheral neuropathy 0.3351431570139352 0.4370217052806744 0.6620956069407822 1.0 0.9931215270807944 16 O00462 1 |
| Cessation of head growth 0.4173190510165829 0.433866088973016 0.6643856862216073 1.0 0.9934799148421528 7 Q9NR50,Q14232,P49770 3 |
| Coxa vara 0.3448618124055309 0.4335073210467285 0.6646462486024989 1.0 0.9935499709816776 14 Q9NUQ7,Q99575 2 |
| Impaired smooth pursuit 0.3309740351297747 0.4329617237063932 0.6650425772533137 1.0 0.9938228677758456 19 P35251,Q9NWX6,O00754,P43034,Q9BTW9 5 |
| Glomerular sclerosis 0.2955370700044206 0.432523608188333 0.6653608975661389 1.0 0.993869447825812 35 Q9NZC9,Q14108,Q92621 3 |
| Poikiloderma 0.5139022900756555 0.4312847077280348 0.6662613681828933 1.0 0.9946850034304016 5 P19447,P18074,P54132 3 |
| Insidious onset 0.5137615269609103 0.430820741026565 0.6665987172494336 1.0 0.9948691609928144 5 Q12768,Q04637 2 |
| Hyperkalemia 0.5133371051830747 0.429422901930869 0.6676154900916502 1.0 0.9951037547918412 5 Q13423 1 |
| Neurodegeneration 0.3129324942851271 0.429133412537633 0.667826137868476 1.0 0.9951037547918412 27 P42858,P17900 2 |
| Vasculitis 0.358582052793107 0.4259009138817825 0.6701800489740171 1.0 0.9976519525072703 11 O15143,P01889 2 |
| Ocular anterior segment dysgenesis 0.2580239220213216 0.424592366878985 0.6711338583908586 1.0 0.997890799370028 96 Q07020,Q9UBC2,Q5SRE5,P61353,P46777,Q9UIG0,P18077,P42766,Q15800,Q14118,P19447,P62899,P61313,Q71SY5,P62847,Q8IYB7,P62244,Q12948,Q8WVX9,Q96HA7,Q9NVI1,P48449,P19022,O00443,Q9Y4P3,Q96EB1,P00403,Q96HP0 28 |
| Cerebellar atrophy 0.2801032240633617 0.4240233531562962 0.6715487820740087 1.0 0.997890799370028 139 P35251,O14773,O75503,P42858,Q15043,O00754,Q96F07,Q13501,Q8IV08,Q9H490,P26358,P51798,Q14108,P51970 14 |
| Generalized abnormality of skin 0.3335971443864738 0.4222280699404005 0.6728585548165085 1.0 0.997987878417506 224 O43933,Q9UBM7,Q86V48,P10619,P04066,Q15125,Q14739,Q8IZA0,O00462,Q15904,O15118,P01889,P06280,P60891,P61916,Q14108,P37268 17 |
| Genu valgum 0.2912018597430684 0.4196141379344637 0.6747673585505711 1.0 0.9993607677290874 36 Q9Y4P3,Q96L58,Q9UIG0,P12955,O00754,P46100,P16278,Q2M1P5,Q9UP83,P51798,Q96HA7,Q02750 12 |
| Abnormal heart valve morphology 0.2667028925970626 0.4177317483654543 0.6761432571245471 1.0 1.0 86 Q86V48,P46777,P16278,Q6PGP7,Q6ZXV5,Q12768,P01889,P51798,P06280,Q96HP0,P37268 11 |
| Impaired vibratory sensation 0.3112843109931533 0.4175278777600887 0.6762923376830183 1.0 1.0 27 O14773 1 |
| Abnormal serum interleukin level 0.5971294339154121 0.4126171016006075 0.6798871696035598 1.0 1.0 4 Q15833 1 |
| Spinal canal stenosis 0.3856479791974394 0.4117608333864698 0.6805147315658835 1.0 1.0 9 Q86V48,Q8IWS0 2 |
| Autoimmunity 0.2928453788612312 0.411119264269247 0.6809850848579639 1.0 1.0 35 Q9NZC9,Q8IZA0 2 |
| Prolonged bleeding time 0.4109721929872416 0.4093508546440609 0.6822822001112319 1.0 1.0 7 Q14692,P35579 2 |
| Abnormal aortic valve morphology 0.2804995842529676 0.4085703217578576 0.682855014146766 1.0 1.0 46 P37268,P06280 2 |
| Neoplasm of the skeletal system 0.2790222091533486 0.4077946498745486 0.6834244418093072 1.0 1.0 47 P46777,Q07020,P62899,P61313,P62847,P18077,Q13501,P42766,P61353 9 |
| Head tremor 0.3444977786220909 0.4076427850142764 0.6835359482572714 1.0 1.0 13 Q99720 1 |
| Immunologic hypersensitivity 0.2994987066365852 0.4066435008529678 0.68426984256783 1.0 1.0 32 P01889,P42345 2 |
| Dyspnea 0.2531888946371203 0.4063936572402619 0.6844533793583283 1.0 1.0 99 P07602,P53007,P40763,P06280,Q9H2P0,Q9NZJ7,P49815,Q93008,P10253,P50747,Q14980,Q13155,P01889,Q9BU61,P11310,P51970,O60231,P04350,Q13510,P46976,Q13501,P09001 22 |
| Generalized onset motor seizure 0.2740838682056995 0.4063594893447738 0.6844784807719069 1.0 1.0 57 Q9BSV6,Q13510,P16278,Q96N66,P27635,P07602,P67870,Q9NZJ7 8 |
| Abnormal ureter physiology 0.2723260141163733 0.4017014266853094 0.6879037744338472 1.0 1.0 52 O60216,Q9UBM7,Q9UBQ7,Q9Y4A5,Q96C36,O95630,Q12830,O14802,O14578,Q9UIG0,P46100,Q14839,Q9Y4P3,Q6KC79,P31040,Q00839,Q9UJX6,Q9NVI1 18 |
| Broad palm 0.3829922902005097 0.4005195454847891 0.6887738903791525 1.0 1.0 9 Q14739 1 |
| Hepatocellular carcinoma 0.3218526977058997 0.400474597213162 0.6888069900058524 1.0 1.0 22 Q9NWH9,P49327,Q9Y5L0,P40692,P11717,P52701 6 |
| Constipation 0.25178766465142 0.3996552240884192 0.6894104756323591 1.0 1.0 103 Q9UBM7,Q86V48,Q709C8,Q9H7D7,Q04637,Q9H2P0,Q9HCK8,P42892,Q93008,Q13423,Q8WVX9,P40692,O75962,O75165,Q8WXI9,P37268,P52701 17 |
| Subcortical band heterotopia 0.582801350503623 0.3994372623341631 0.6895710423678603 1.0 1.0 3 P43034 1 |
| Subcortical heterotopia 0.582801350503623 0.3994372623341631 0.6895710423678603 1.0 1.0 3 P43034 1 |
| Impaired mastication 0.3955174848932548 0.3990188763944505 0.6898792955369295 1.0 1.0 8 P01889 1 |
| Self injurious behavior 0.2726199833877835 0.3987783913034623 0.6900565004353378 1.0 1.0 54 Q9UBM7,P19022,Q86V48,Q14204,P27635,P67870 6 |
| Abnormality of the shoulder girdle musculature 0.2961908072230699 0.3986834595990738 0.6901264569061776 1.0 1.0 33 P07602,Q9NZJ7 2 |
| Prolonged partial thromboplastin time 0.4192086784019991 0.396333106931353 0.6918593068581891 1.0 1.0 6 P28288 1 |
| Abnormal eyelash morphology 0.2678445706376018 0.3927277640208321 0.6945205622009032 1.0 1.0 81 P48449,Q9UBM7,Q5KU26,P46778,Q15125,Q07954 6 |
| Focal non motor seizure 0.3680422998478274 0.3919364736929309 0.6951051525354128 1.0 1.0 10 P42356,P67870 2 |
| Impaired horizontal smooth pursuit 0.5896623458288721 0.3912377620692644 0.6956214982322337 1.0 1.0 4 P35251 1 |
| Abnormal t wave 0.5882914438687088 0.3873632977705155 0.698487271092771 1.0 1.0 4 Q99996 1 |
| Rhinitis 0.4048638510679866 0.386200184155227 0.6993484173690612 1.0 1.0 7 P51798 1 |
| Abnormal proportion of cd4 positive t cells 0.4046370875935203 0.3853494418810153 0.6999785351467951 1.0 1.0 7 Q9NZC9,P49327,P54132 3 |
| Abnormal mitochondrial morphology 0.3498746229911234 0.3849725821519421 0.7002577292321808 1.0 1.0 11 P46976,Q13501 2 |
| Abnormal chorioretinal morphology 0.3039016789584225 0.3835481936445408 0.7013133438320849 1.0 1.0 28 O43933,O60231,P04439,P49815,O43505,Q12768,Q14118 7 |
| Abnormal choroid morphology 0.3039016789584225 0.3835481936445408 0.7013133438320849 1.0 1.0 28 O43933,O60231,P04439,P49815,O43505,Q12768,Q14118 7 |
| Abnormality of secondary sexual hair 0.4041536695087958 0.3835379348914394 0.7013209486905028 1.0 1.0 7 P62304,Q8IY37 2 |
| Abnormal intestine morphology 0.323720151875687 0.3835127089622177 0.7013396489091086 1.0 1.0 212 Q15392,Q9UBM7,Q07020,P42892,P06280,P63167,P61353,Q14739,P46777,P18077,Q8NCM8,Q00839,Q93008,P42766,P62899,P61313,P62847,P01889,O43933,Q9NZC9,Q86V48,O15143,Q6PGP7,P42345,Q9H9Y6,Q12768,Q2M1P5,O00443,P14174 29 |
| Neoplasm of the oral cavity 0.3349668649700797 0.382904538399607 0.7017905462025367 1.0 1.0 14 P40692,Q8NCM8,Q2M1P5,P52701 4 |
| Gastritis 0.4150781044548329 0.3814628208985102 0.7028598539807538 1.0 1.0 6 Q6PGP7,P49327,P50851 3 |
| Abnormality of the endometrium 0.3488602641010596 0.3802819207219758 0.7037361544244181 1.0 1.0 11 Q07864,P40692 2 |
| Pulmonary fibrosis 0.3200110394904125 0.3802356495447954 0.7037704984995856 1.0 1.0 21 Q8IZA0 1 |
| Abnormal metacarpal morphology 0.3029359234354219 0.3767536306405749 0.7063567030818989 1.0 1.0 28 Q14739,Q96L58,P16278,Q9BXW9,Q6KC79,Q2M1P5,Q32P28,O75962,Q9NVI1 9 |
| Abnormality of exocrine pancreas physiology 0.3180404493972272 0.3766779246783289 0.706412970079636 1.0 1.0 22 Q15904 1 |
| Facial hypertrichosis 0.2710999212082568 0.3762367392127252 0.7067409045893587 1.0 1.0 58 P19022,O00170,P15586,Q00839,P62266,P54802 6 |
| Acute phase response 0.3007579919543575 0.3729920384103035 0.7091543695147906 1.0 1.0 29 O15143,Q658P3,P14174,P01889 4 |
| Abnormal epidermal morphology 0.3213379766794668 0.372974573369528 0.7091673682438375 1.0 1.0 18 Q07954,P01889 2 |
| Eeg with abnormally slow frequencies 0.3206633639151873 0.3724188972969683 0.7095809861969404 1.0 1.0 19 O75503,Q96F07 2 |
| Abnormal t cell subset distribution 0.3412206138069713 0.3677584031657547 0.7130533880842203 1.0 1.0 12 P49327,Q9NZC9,O00203 3 |
| Genu varum 0.3620511266054155 0.3657186710840304 0.7145750123903682 1.0 1.0 10 Q9NUQ7 1 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.3425025382895705 0.3654822839913644 0.7147514288548427 1.0 1.0 249 Q15392,Q9UBM7,Q9H7D7,P04066,Q15125,Q07020,Q92917,P61353,P37268,P41229,Q9Y4A5,Q14739,Q8TC12,P46777,P16278,P42356,P18077,Q8NCM8,Q00839,P42766,Q9HC21,Q14839,P62899,P61313,P62847,P27635,P08243,O43933,Q86V48,P42858,Q12768,Q96HP0 32 |
| Joint subluxation 0.4103744537747679 0.3647788457407609 0.7152764972669814 1.0 1.0 6 P16278,Q02809 2 |
| Abdominal obesity 0.4919579779224432 0.3612411124122586 0.71791921092903 1.0 1.0 5 O00170 1 |
| Abnormal retinal morphology 0.3256732858473386 0.3578058354682539 0.7204886232442336 1.0 1.0 219 O14773,O75503,P07602,Q6P2Q9,P60891,Q9NZJ7,P50897,Q8TC12,P16278,O00754,P17900,P06865,Q8NCM8,P10619,P04439,P01889,Q8WYQ5,O43933,P42858,P07686,Q13510,Q96F07,Q12768 23 |
| Fluctuations in consciousness 0.4082230150867752 0.3572387818448763 0.720913055076043 1.0 1.0 6 Q9BU61,P00403 2 |
| Bowing of the legs 0.2670381109470809 0.3561569995196672 0.7217229926481126 1.0 1.0 51 P16278,O00754,Q9NUQ7,Q8NCM8,P51798,Q96HA7 6 |
| Generalized hyperreflexia 0.4902603933150732 0.3560248608941649 0.7218219471172014 1.0 1.0 5 P19447,P11166 2 |
| Right bundle branch block 0.3433458745462066 0.3550803743754419 0.7225293788940021 1.0 1.0 11 Q9H490,Q99996 2 |
| Lower extremity joint dislocation 0.2658984116233964 0.3547069619931877 0.7228091347488435 1.0 1.0 78 Q9UBM7 1 |
| Single transverse palmar crease 0.2715097701064075 0.3539724072277864 0.723359562043492 1.0 1.0 48 Q96ST3,Q5SRE5,Q9BZG8,Q9H2P0,O60216,P12955,Q6KC79,Q8IWV7,Q9BSV6,Q8NI27,Q71SY5,P27635,Q8IYB7,Q9UID3,Q9NXE4,O43933,Q96I36,P62266,Q01082,Q8IYA6,Q96HP0 21 |
| Gynecomastia 0.3156247572317538 0.353819901492523 0.7234738578185045 1.0 1.0 21 O00170,Q9NW13,Q8IWS0,O14802,Q8IY37,Q9BZH6 6 |
| Adult onset 0.2682017888116444 0.3489000485101381 0.7271643487602135 1.0 1.0 69 P35251,P42345,P07602,O15118,Q8IV08,Q12768,Q9NZJ7 7 |
| Dolichocephaly 0.2803714320334855 0.3473475664255911 0.7283302197768773 1.0 1.0 39 P60891,P42356,O43933 3 |
| Abnormal cranial nerve physiology 0.265907236577851 0.345779039849914 0.7295087784017538 1.0 1.0 76 O43933,Q86V48,Q9H7D7,Q13510,P42356,Q13501,P07602,Q93008,P01889,P51798,Q14692,Q9NZJ7,Q15043 13 |
| Hyperventilation 0.4047077766783114 0.345045510550831 0.7300601568149179 1.0 1.0 6 P47985,P11166 2 |
| Abnormal hair laboratory examination 0.369503732935743 0.3448934558964004 0.730174470546415 1.0 1.0 9 O43933 1 |
| Macrotia 0.2535181604212882 0.3443077250266479 0.7306148753308954 1.0 1.0 94 O14617,P41229,P42858,Q8TC12,P16278,O00754,P27635,P08243,P37268 9 |
| Abnormal umbilicus morphology 0.2681095775316899 0.3442687009589278 0.7306442202681942 1.0 1.0 66 P42345,O00754,Q14739,Q8WYQ5 4 |
| Narrow mouth 0.267238316319149 0.3411418855808134 0.7329967703107463 1.0 1.0 70 Q15392,Q86V48 2 |
| Bimanual synkinesia 0.5714234623703737 0.3410377777726926 0.7330751421358501 1.0 1.0 4 P19022 1 |
| Megalencephaly 0.5622659282116085 0.3404046894930663 0.7335517876357402 1.0 1.0 3 P42345 1 |
| Upper limb undergrowth 0.3129566210198123 0.3379606774886626 0.735392820832117 1.0 1.0 21 Q14739 1 |
| Congenital hepatic fibrosis 0.4836268323122697 0.3359384536841299 0.7369172786089244 1.0 1.0 5 Q8NCM8 1 |
| Premature loss of primary teeth 0.559959564270158 0.3340493231104339 0.7383423398258238 1.0 1.0 3 P53634 1 |
| Optic nerve hypoplasia 0.3143256096123465 0.3339306152534307 0.7384319169062648 1.0 1.0 18 Q9BZH6,P18583,Q8WXI9,P37268,Q9NVI1 5 |
| Limited extraocular movements 0.390510797194368 0.3336534211844267 0.7386411016828334 1.0 1.0 7 Q9BU61 1 |
| Ventricular hypertrophy 0.2828688455741917 0.3336178996833481 0.7386679094173616 1.0 1.0 35 Q7L0Y3,O95630,O00170,P46777,P35573,P06280,P10253 7 |
| Abnormality of the musculature of the lower limbs 0.3030906158054725 0.332519943729487 0.7394966827173977 1.0 1.0 25 Q12768,P53007,Q14204,Q14118 4 |
| Bradycardia 0.3289094593173067 0.3322739645799392 0.7396823974038016 1.0 1.0 13 P51970,Q99996 2 |
| Hip dysplasia 0.2650844041686579 0.3317906525486055 0.7400473430341008 1.0 1.0 53 Q86V48,Q9H7D7,P42858,Q15125,Q9NUQ7 5 |
| Phthisis bulbi 0.4819608076800745 0.3309695080111905 0.740667517842881 1.0 1.0 5 Q6KC79 1 |
| Recurrent sinusitis 0.4004895332841266 0.3306260160879143 0.7409269924025002 1.0 1.0 6 P50851,Q15833 2 |
| Prominent metopic ridge 0.3331273876979205 0.330384064127743 0.7411097811405676 1.0 1.0 12 P18074,P40763,Q00839,Q5SRE5,P46821 5 |
| Pace of progression 0.2895367625965476 0.3280987899743556 0.7428369688623406 1.0 1.0 164 O76075,O14773,Q12965,P28288,P15586,O00584,Q14108,P35251,Q99720,Q8IV08,P26358,P54802,Q15043,Q709C8,Q14204,P08243,Q13510,Q13501,Q12768 19 |
| Extrapyramidal dyskinesia 0.5573882247100678 0.3270318893213443 0.7436437659670054 1.0 1.0 3 P35610 1 |
| Triangular shaped phalanges of the hand 0.2645988484691254 0.3249653988178103 0.7452072593877697 1.0 1.0 74 P42858,P46777,Q07020,P62899,P61313,P62847,P18077,Q93008,P42766,Q2M1P5,O75962,P61353 12 |
| Abnormality of the curvature of the cornea 0.2634988206796663 0.3249111433237889 0.7452483229213493 1.0 1.0 77 O43395,Q9BXW9,Q6P2Q9,Q9H2P0,Q8WXI9,Q9UIG0,O00754,Q8ND04,Q6KC79,Q93008,Q10471,Q07021,P26640,P19447,Q12830,Q14839,Q02809,Q7Z6Z7,Q9ULH0,Q9UJX6,Q9NVI1,Q9NZC9,P42858,Q9Y4P3,P20839,P10412,Q92620,O75648 28 |
| Peripheral opacification of the cornea 0.5084695393759303 0.3241264430973353 0.7458423079819527 1.0 1.0 2 P54886 1 |
| Abnormal vena cava morphology 0.3316974371764388 0.3239082841002493 0.7460074720218131 1.0 1.0 12 P47985,Q8ND04 2 |
| Abnormality of lower lip 0.2651409983566617 0.322290947057884 0.7472322907605382 1.0 1.0 71 P04066,P27635,P15586,Q12948,Q93008,P62266,P06280 7 |
| Abnormality of the anterior fontanelle 0.2856839191965155 0.3201527273314689 0.748852556741316 1.0 1.0 33 O43933,Q15125 2 |
| Secondary amenorrhea 0.3115342209487158 0.3182254614179157 0.7503139204441744 1.0 1.0 17 Q8WWQ0,Q12830,P49770,O60879,Q13144,Q9NR50,Q9BZH6,Q14232,Q15031 9 |
| Skin rash 0.3059939109169451 0.3171367049379412 0.7511398747461859 1.0 1.0 23 P19447,Q14739,P40763,P14174,Q15833,P50747 6 |
| Death in childhood 0.2987096036447172 0.3168489085264572 0.7513582510524279 1.0 1.0 26 Q9NPL8,P80404 2 |
| Bulbar palsy 0.3254214800420132 0.3160455215805987 0.7519679563223665 1.0 1.0 13 P53007,P15289,Q13501 3 |
| Increased muscle lipid content 0.3620695495079103 0.315368711684036 0.7524817200927878 1.0 1.0 9 O00483,P06753,Q9BUK6,O75648 4 |
| Neoplasm of the tongue 0.3730354673017299 0.3125584214090077 0.754616171302257 1.0 1.0 8 Q8NCM8,Q2M1P5 2 |
| Gastrointestinal hemorrhage 0.2770558066823234 0.3119069828101097 0.7551112155498465 1.0 1.0 37 Q14739,Q8N5K1,Q02809,P49327,P31040,P60866,P49257,Q9NZ08,P49815,P01889,P40692,Q96HP0,P52701 13 |
| Abnormal ovarian physiology 0.3023359660373235 0.3100477951081911 0.7565246107057084 1.0 1.0 24 Q8WWQ0,O00170,P54132,P49327,P49770,O60879,Q13144,Q9NR50,Q9BZH6,O75616,Q14232,Q15031 12 |
| Myelodysplasia 0.2650029126352569 0.3098762076912862 0.7566550963586267 1.0 1.0 49 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Telecanthus 0.2712988435411418 0.309554437812592 0.7568998087187466 1.0 1.0 44 P19022,Q15125,P10412,Q93008,Q00839,Q9H490 6 |
| Hernia 0.2772420728252949 0.3093257329101281 0.7570737581442939 1.0 1.0 148 Q9UBM7,Q9Y4A5,Q14739,P04066,P16278,O00754,P27635,P42345,Q8NCM8,Q12768,Q8WYQ5 11 |
| Macular atrophy 0.3931434045788899 0.3060876378754668 0.7595379200557857 1.0 1.0 6 P04439 1 |
| Large for gestational age 0.3711971494425643 0.3058099406281089 0.7597493593210967 1.0 1.0 8 Q8IYB7,P42345 2 |
| Abnormally low pitched voice 0.3820289302786441 0.3039225884408466 0.7611868682150871 1.0 1.0 7 O60216,Q96L73,Q6KC79 3 |
| Hypoplastic ilia 0.3271230710376901 0.3034627890770651 0.7615372012545574 1.0 1.0 12 O00754 1 |
| Delayed gross motor development 0.2509294043692124 0.3026188256789874 0.7621803659846997 1.0 1.0 112 P48449,P19022,Q5KU26,Q9Y4A5,P42858,Q99720,Q9H7D7,Q14204,Q96N66,P27635,Q6ZXV5,P67870,P51798,P10253,Q14118,P51970 16 |
| Anisocoria 0.4717430101130283 0.301184184317102 0.7632740493197252 1.0 1.0 5 Q96IJ6,Q9NRG9,Q9NR77,Q96ST3 4 |
| Low apgar score 0.3809124455490448 0.3000867503967338 0.7641109853946242 1.0 1.0 7 P60891 1 |
| Antinuclear antibody positivity 0.3908059493603482 0.2984375694232676 0.7653692184615695 1.0 1.0 6 P49327,P53621,Q9Y5L0 3 |
| Recurrent bronchopulmonary infections 0.4707237497272095 0.2982795756281213 0.7654897914748213 1.0 1.0 5 Q9Y2Q5 1 |
| Cerebral edema 0.345914025525993 0.297898175551014 0.7657808804707336 1.0 1.0 10 P11310 1 |
| Abnormal nephron morphology 0.2631968260868578 0.2973851187768479 0.7661725035607674 1.0 1.0 67 Q9NZC9,Q9Y4P3,Q12965,Q9UIG0,P00403,P61619,P49327,Q8NFH4,P01889,P53621,Q92621,P06280,Q14108,P09001,O95470,Q9BU61,Q9P2R3 17 |
| Encephalocele 0.320733056181205 0.2946303003251777 0.768276312788361 1.0 1.0 13 Q96HP0,Q6ZXV5,Q9H9Y6 3 |
| Proptosis 0.2627988887085122 0.2936087313777123 0.769056903043692 1.0 1.0 62 Q9UBM7,Q5KU26,O00754,Q12948,O75531,Q15043 6 |
| Peripheral hypermyelination 0.4977711738484415 0.2928771497685011 0.7696160552360318 1.0 1.0 2 Q13614 1 |
| Pulmonary edema 0.5442925089179441 0.2924359345622807 0.7699533365920923 1.0 1.0 3 O95235,Q14315 2 |
| Macular purpura 0.3119127672700026 0.2922100573047507 0.7701260224376181 1.0 1.0 15 O00170,Q14980,P12955,P40763,P51798,Q15833,Q16625 7 |
| Ventricular tachycardia 0.3154413933807114 0.288561933887257 0.7729166291436524 1.0 1.0 14 P19022,P46976,Q8N335,Q14126,Q99996 5 |
| Absent hand 0.5420839883764252 0.2867945750237136 0.7742696170403796 1.0 1.0 3 Q96HP0 1 |
| Abnormal dermatoglyphics 0.259670871709521 0.2855566592822912 0.7752177025872462 1.0 1.0 77 O43933,Q9UBM7,Q9BSV6,O00170,P27635,P42345,Q96I36,P62266,Q92917,Q5SRE5,Q96HP0 11 |
| Male sexual dysfunction 0.3229388052594261 0.2851338778769346 0.7755415760694899 1.0 1.0 12 Q709C8,O00170,P07686 3 |
| Abnormality of lens shape 0.4939078751857372 0.2820179539683101 0.7779297435646964 1.0 1.0 2 Q01968 1 |
| Decreased size of nerve terminals 0.4939078751857372 0.2820179539683095 0.7779297435646968 1.0 1.0 2 Q06210 1 |
| Wide cranial sutures 0.3645954844916712 0.2820103268118902 0.7779355919040591 1.0 1.0 8 O43933,O75531 2 |
| Pediatric onset 0.326715402833618 0.2817044111703564 0.7781701718001703 1.0 1.0 232 O76075,O14773,Q9H7D7,O14646,P28288,Q53FT3,Q9Y4I1,P07602,O00584,P06280,P60891,Q15833,Q9NZJ7,Q2TAA5,P16278,P18077,Q9NUQ7,P06865,Q15904,Q00839,P51798,P54802,Q14118,Q14204,Q13155,Q9NPL8,Q6ZXV5,O15118,P51970,P07686,Q13510,Q6P1N0,P42345,P78527,P09001,P35579 36 |
| Hepatic failure 0.2655466788574269 0.2807730051660391 0.7788845098330142 1.0 1.0 46 O43933,Q13510,Q6PGP7,P28288,O15118,P01889,Q9BUR4,P08574 8 |
| Optic atrophy 0.3100233428013103 0.2796442889827147 0.7797504244425315 1.0 1.0 203 Q9UBM7,Q15125,O14802,O43395,Q53FT3,Q9Y4I1,P07602,Q9H490,Q6P2Q9,P06280,P60891,Q9NZJ7,P35251,P50897,Q9NWX6,P16278,P15289,P49815,O43505,O75251,P26358,P51798,Q86Y39,Q9HC21,Q14118,O75352,Q15043,Q5KU26,O95630,Q7Z6Z7,Q6ZXV5,P01889,Q9BU61,Q9NR50,Q14232,O43933,O75970,Q86V48,P04350,Q96F07,P49770,Q92620,Q12768,Q2M1P5,Q8IYA6,Q96HP0 46 |
| Decreased urine output 0.4930163447251132 0.2795446688254552 0.7798268629533054 1.0 1.0 2 O43772 1 |
| Oliguria 0.4930163447251132 0.2795446688254552 0.7798268629533054 1.0 1.0 2 O43772 1 |
| Dental crowding 0.2838173017391895 0.2788032786694843 0.7803957981770875 1.0 1.0 31 Q9UBM7,P27635,O75531 3 |
| Cerebral hypomyelination 0.3037413177658167 0.2771468760373908 0.7816673291078544 1.0 1.0 18 Q9H7D7,P04350,P49770,Q9NR50,Q14232,Q9BTW9 6 |
| Anotia 0.538082641189454 0.2767191585028282 0.7819957597576892 1.0 1.0 3 Q99741 1 |
| Respiratory failure 0.2609774817677851 0.275736372184592 0.7827505572116438 1.0 1.0 66 Q13510,Q13501,P07602,Q9NZJ7,P61916,P10253,Q14118 7 |
| Limb dystonia 0.3028508432573607 0.273258865081087 0.7846542332880948 1.0 1.0 19 Q709C8,Q99720,P04350 3 |
| Abnormal ciliary body morphology 0.5365847773800511 0.2729961971790542 0.7848561387999582 1.0 1.0 3 O75533 1 |
| Abnormal cerebral cortex morphology 0.3338073431322201 0.2708503046947257 0.7865061678352887 1.0 1.0 247 Q15392,Q9UBM7,O75503,Q9H7D7,Q96N66,P05067,Q9Y4I1,P67870,Q92917,O96008,P37268,Q9Y4A5,P42356,O00754,Q9NUQ7,Q93008,Q2M389,O75165,Q9HC21,Q14118,Q9NZ01,Q5KU26,Q709C8,Q9BSV6,Q14204,P08243,Q6ZXV5,Q9ULK4,Q9BU61,P51970,O43933,O75970,Q86V48,P42858,P42345,Q13501,P78527,Q8IY37,Q96HP0 39 |
| Dystonia 0.2919262470820973 0.2700010480223814 0.7871594473338783 1.0 1.0 175 Q96N66,P07602,O00584,P67870,P61916,Q9NZJ7,Q99720,P16278,Q9NUQ7,P17900,Q2M389,O75165,Q15043,O14617,Q9NZ01,Q709C8,Q9BSV6,Q14204,O15118,Q9ULK4,Q9BU61,P42858,Q6P1N0,Q13501 24 |
| Abnormal phalangeal joint morphology of the hand 0.2629833951571874 0.2697119171381378 0.7873818916611475 1.0 1.0 47 O43933,P41229,Q86V48,P27635 4 |
| Preaxial hand polydactyly 0.3499275481439312 0.269059551650573 0.7878838560921382 1.0 1.0 9 Q8NCM8 1 |
| Hemiplegia hemiparesis 0.2614636513561733 0.2678379092728141 0.7888240890507636 1.0 1.0 48 Q9NZC9,Q86V48,P20839,P49327,P52701,P42345,P60866,P49815,P40692,P01889,P00492,O95155,P00403,Q96HP0,P11166 15 |
| Abnormal joint morphology 0.350624621772228 0.2668946781161376 0.7895502543160529 1.0 1.0 282 Q15392,Q9UBM7,Q99575,Q15125,P42892,P07602,Q92917,P06280,P60891,Q14108,Q9NZJ7,P37268,P41229,Q14739,Q8IZA0,P16278,O00754,Q9NUQ7,Q8NCM8,Q93008,P51798,Q14118,Q15043,Q8IWS0,Q14839,P27635,Q6ZXV5,P01889,Q96HA7,O43933,Q9NZC9,Q86V48,P10321,P42858,O00170,Q13510,Q2M1P5,P14174 38 |
| Small for gestational age 0.2531540405076664 0.2665302562065513 0.7898308607680065 1.0 1.0 86 Q9NZC9,O95630,P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q93008,P42766,Q5SRE5,O00443,Q9Y3D3,Q96HA7,P61353,P47985 17 |
| Lower limb spasticity 0.2543710338323491 0.2661674221902449 0.790110271613883 1.0 1.0 84 P41229,Q99720,O00754,P07602,Q12768,Q9NZJ7 6 |
| Premature osteoarthritis 0.4879643387815768 0.2657635529576169 0.7904213145511809 1.0 1.0 2 Q96HY6 1 |
| Prominent occiput 0.3097198744057359 0.2624941861058104 0.7929404670779518 1.0 1.0 14 Q12768,Q2M1P5 2 |
| Brachycephaly 0.2584793840316521 0.2611455203183102 0.7939802890909864 1.0 1.0 73 O43933,Q86V48,O00754,P04066 4 |
| Abnormality of male internal genitalia 0.3131264867976092 0.2609103897915484 0.7941616123938424 1.0 1.0 13 Q8IY37,P13051 2 |
| Deeply set eye 0.2548596577467087 0.2595566727750731 0.7952057611700392 1.0 1.0 82 P41229,Q86V48,Q9Y4A5,P19022,Q8IWS0,P35573,O14802,Q9ULH0,Q7Z6Z7,Q8IYB7,O75179,P78527,P40763,Q9H490,Q2M1P5,Q92917,P60891,Q8WXI9 18 |
| Secondary microcephaly 0.2552835384336024 0.2586698710880345 0.79588996793033 1.0 1.0 81 Q5KU26,P50897,Q9BSV6,O95630,Q9NXE4,Q6P1N0,P11166,P43034,Q9BX67,P08243,Q8WVX9,Q9NR50,O75962,Q86Y39,Q9HC21,Q15043 16 |
| Skin appendage neoplasm 0.3684523809523828 0.2585700311577764 0.7959670086965738 1.0 1.0 7 Q15437,P40692,P35222,Q9UPY3,P43246,Q8NFG4 6 |
| Spastic paraparetic gait 0.3776139180823731 0.2567630819647561 0.7973616711088463 1.0 1.0 6 Q15041,Q15043,Q9Y3I1 3 |
| Neurofibromas 0.3676773348728878 0.2560684242132433 0.7978980031182095 1.0 1.0 7 Q07954 1 |
| High hypermetropia 0.3079420168167498 0.2545533372830305 0.7990681035122771 1.0 1.0 14 Q9Y4P3,Q9UIG0,Q86V48,Q71SY5 4 |
| Gait imbalance 0.2953421899324479 0.2535600861034048 0.7998354356825232 1.0 1.0 23 Q709C8,P42858 2 |
| Delayed myelination 0.2505527609242097 0.2532239088500823 0.8000951918701771 1.0 1.0 88 O14617,Q5KU26,Q9Y4A5,Q2TAA5,O95630,Q9ULH0,O00754,Q53FT3,P08243,Q8WVX9,P53007,Q00839,Q9H490,Q8IY37,Q5SRE5,P60891,Q8WXI9,P11166 18 |
| Epileptic spasm 0.258225798735306 0.2530914492099873 0.8001975463660309 1.0 1.0 70 Q9NZ01,P19022,Q9BSV6,Q14204,Q13510,P42356,Q96N66,Q9NUQ7,Q9ULK4,P67870,Q2M389,Q8IY37 12 |
| Posterior pituitary dysgenesis 0.454145857535967 0.2528149670883908 0.8004112012754891 1.0 1.0 5 P42356 1 |
| Long ear 0.528251537985347 0.2527754567103072 0.8004417346188495 1.0 1.0 3 O75530 1 |
| Pes cavus 0.2392389001232209 0.2514445390610634 0.8014704363159235 1.0 1.0 102 P42858,Q99720,Q14739,P60891,P13473 5 |
| Perimembranous ventricular septal defect 0.3748150552084082 0.2482614729749661 0.8039321061143547 1.0 1.0 6 O60216,O94979,Q5SRE5 3 |
| Generalized hyperpigmentation 0.3100497518351931 0.2476490350698342 0.8044059677099265 1.0 1.0 13 Q9Y4I1,O00170 2 |
| Short phalanx of the thumb 0.3540723657779979 0.2455485827956363 0.8060316956500482 1.0 1.0 8 O60216,Q6KC79,Q9NVI1 3 |
| Abnormal larynx physiology 0.3057052848596991 0.2446734181170601 0.806709311807942 1.0 1.0 14 Q13510 1 |
| Aortic arch aneurysm 0.3432167621707521 0.2445586732603565 0.8067981663939212 1.0 1.0 9 Q9Y4P3,Q9UIG0,Q86V48 3 |
| Abnormal male reproductive system physiology 0.2663444014590089 0.2434598936909387 0.8076491507073862 1.0 1.0 40 Q709C8,O00170,Q658P3,P54132,P07686,Q9Y4P3,Q9BXW9,Q9UIG0,Q8N5K1,Q13423,Q8IY37,Q9BZH6,Q9NVI1 13 |
| Flexion contracture of digit 0.255102146119454 0.2434246366995714 0.8076764603657356 1.0 1.0 78 O43933,P41229,Q86V48,P27635,P42892,P10412,Q92917 7 |
| Adenomatous colonic polyposis 0.3631464382718499 0.2416406661523687 0.809058608632307 1.0 1.0 7 Q07864 1 |
| Oligomenorrhea 0.4497361558543679 0.2413049284353307 0.8093187914003566 1.0 1.0 5 O00170,Q15031 2 |
| Male infertility 0.3626337942380905 0.2400296345608711 0.8103072829897582 1.0 1.0 7 Q8IY37,Q02750 2 |
| Abnormality of the nail 0.2559653878247158 0.2390619048278137 0.8110575809212126 1.0 1.0 126 O43933,P10321,Q9Y4A5,Q99575,Q14739,P04066,Q15125,P42892,Q12768,Q8IY37,Q96HP0 11 |
| Ridged nail 0.4475185713075215 0.2356124322215786 0.813733425511804 1.0 1.0 5 P19447,P18074,P16615 3 |
| Stomatitis 0.2951857919664215 0.2349448586627429 0.8142515316876957 1.0 1.0 17 P01889 1 |
| Abnormality of lower limb joint 0.287700036464618 0.2349227883593221 0.8142686619164268 1.0 1.0 173 Q9UBM7,Q15125,P07602,Q9NZJ7,P37268,P16278,O00754,Q9NUQ7,Q8NCM8,Q93008,P51798,Q14118,Q15043,Q8IWS0,Q14839,P27635,Q6ZXV5,Q96HA7,Q9NZC9,P42858,Q13510 21 |
| Vertigo 0.2857459561115649 0.2347242313582763 0.8144227791890633 1.0 1.0 26 O00170,Q14980,P46976,P49327,P01889,P06280 6 |
| Abnormality of periauricular region 0.2873220021259667 0.2340327559782483 0.814959549102521 1.0 1.0 25 Q07954,Q00839,Q12768,Q9H9Y6 4 |
| Frontal balding 0.5193550760630039 0.2321257155419061 0.8164403721843212 1.0 1.0 3 P11166 1 |
| Abnormality on pulmonary function testing 0.2945664537247424 0.2298863461986578 0.8181800863714108 1.0 1.0 19 P16278,Q02809,P49815,P01889,P53621 5 |
| Abnormality of the metopic suture 0.3022567647080893 0.2296875473789081 0.8183345719860189 1.0 1.0 14 P18074,P40763,Q00839,Q5SRE5,P18583,P46821 6 |
| Enamel hypoplasia 0.3020167546244627 0.2286558903616774 0.8191363808940035 1.0 1.0 14 O43933 1 |
| Cutaneous syndactyly 0.3134402449862852 0.2283693899436591 0.8193590840233393 1.0 1.0 11 Q2M1P5,P27635 2 |
| Abnormal emotion affect behavior 0.3297531038747349 0.2283672659015264 0.8193607351428356 1.0 1.0 246 Q9UBM7,O75503,Q9H7D7,Q04637,Q15125,Q12965,P07602,P53007,P67870,Q9H2P0,Q8WXI9,Q96CW1,P37268,Q9NZJ7,P41229,P50897,O00462,P15289,Q8ND04,P06865,P17900,P49815,Q93008,O75251,P26358,P54802,O75165,Q9HC21,P50747,Q5KU26,Q709C8,Q14204,P17480,P27635,P01889,Q92621,Q8WYQ5,Q9NR50,P11166,P19022,Q86V48,O00170,P42858,Q13510,Q13501,P49770,P40692,O75962,P35610,Q9P2R3 50 |
| Granulocytopenia 0.5241537596823498 0.2259450446383046 0.8212441630145624 1.0 1.0 4 O75533 1 |
| Visual field defect 0.261731741913625 0.2259108708852986 0.8212707426362369 1.0 1.0 43 O43933,P04439,P01889,Q6P2Q9 4 |
| Colitis 0.3083945890737013 0.2244032590148977 0.8224435350241337 1.0 1.0 12 Q6PGP7,P49327,Q15833 3 |
| Long fingers 0.2497340661401909 0.2237849987955582 0.8229246031907731 1.0 1.0 85 P41229,O00170,Q8IWS0,Q15125,Q14839,P27635,P42892,Q93008,Q2M1P5,P53634 10 |
| Chronic lung disease 0.3369318129737782 0.2223643660442441 0.8240302491938984 1.0 1.0 9 P12955,Q8N3U4,P54132,P50851 4 |
| Abnormal uterus morphology 0.2654058080392221 0.2222515124303022 0.8241180955876721 1.0 1.0 36 Q9UBM7,Q8NCM8,P63167 3 |
| Abnormal location of ears 0.3353741815140084 0.2220947328564643 0.8242401380491047 1.0 1.0 258 Q15392,Q9UBM7,Q07864,Q15125,Q07020,P15586,P42892,Q9H490,Q92917,Q5SRE5,P60891,Q9H2P0,P61353,P37268,Q9Y4A5,O00203,Q14739,Q8TC12,P46777,P16278,P18077,P43034,Q93008,P42766,Q9Y3D3,Q14118,O14617,O95630,Q14839,P62899,P61313,P62847,P27635,Q9NXE4,Q16625,O43933,P19022,Q86V48,O75970,Q6PGP7,P78527,P62266,Q12768,Q2M1P5,Q96HP0 45 |
| Cytochrome c oxidase negative muscle fibers 0.3562083872279622 0.2202139649553181 0.8257045211110663 1.0 1.0 7 O00483,O75648,Q96RR1,P42704 4 |
| Lower limb pain 0.5214894855860973 0.220162934548658 0.8257442623270299 1.0 1.0 4 Q96HA7 1 |
| Atrophy degeneration involving the corticospinal tracts 0.3034551530793539 0.2199960511640553 0.8258742300880264 1.0 1.0 13 Q12768 1 |
| Increased blood pressure 0.2535640320209913 0.2186098177021326 0.8269540043603039 1.0 1.0 75 Q9NZC9,O00170,P28288,P42892,P01889,P06280,Q96HP0,O75531 8 |
| Atelectasis 0.3027584038797928 0.217137584960993 0.8281011240770064 1.0 1.0 13 Q13510,P49815 2 |
| Pointed chin 0.2646501610019324 0.2168586882265058 0.8283184734634741 1.0 1.0 36 P19022,Q86V48,O14802,Q9HCK8,O14646,Q9UIG0,Q9Y4P3,Q9H490,Q8IY37,Q9UQR1,Q96EK5 11 |
| Papule 0.2907908179672736 0.216811869264539 0.828354961636059 1.0 1.0 22 P01889 1 |
| Broad columella 0.4398955061283087 0.2165419256810379 0.828565348320647 1.0 1.0 5 Q8TC12,O00443 2 |
| Petechiae 0.3062614210496779 0.2159088666368592 0.829058785529792 1.0 1.0 12 Q14980,P12955,P40763,P51798,Q15833,Q16625 6 |
| Apnea 0.2462772895439699 0.2149217808099902 0.829828303049569 1.0 1.0 89 O14617,Q9BSV6,O00170,P42356,Q96RQ3,P07602,P51798,Q9BU61,P60891,Q86Y39,Q9NZJ7 11 |
| Abnormal tendon morphology 0.3177881460013339 0.214445821558423 0.8301994122335374 1.0 1.0 226 Q15392,Q9H7D7,Q99575,P04066,P15586,P42892,Q92917,P37268,P41229,P35251,P50897,Q99720,Q8IZA0,P42356,O75531,Q9HC21,Q14118,O75352,Q15043,Q8IWS0,P27635,P11310,O43933,P48449,Q86V48,Q13510,P10412 27 |
| Abnormal lactate dehydrogenase level 0.2908968814260301 0.2137889595633287 0.8307116349097774 1.0 1.0 21 P11310,P10253 2 |
| Tall stature 0.2527774399816808 0.2122543221854036 0.8319086290859246 1.0 1.0 57 P80404,O00170,P42858,Q12830,P04350,O14802,Q9HCK8,A5YKK6,Q02809,O00754,Q7Z6Z7,P43034,Q8IYB7,Q13423,Q2M1P5,P06753,O75648,Q15031 18 |
| Exodeviation 0.2801745372307088 0.2118183666054206 0.832248739152861 1.0 1.0 27 P60891 1 |
| Ichthyosis 0.2638148130348684 0.2109268003100664 0.8329443909401801 1.0 1.0 36 O43933,Q15125 2 |
| Rectal fistula 0.3530185757477788 0.2106406902748707 0.8331676583556928 1.0 1.0 7 Q9H9Y6 1 |
| Intestinal fistula 0.3530185757477788 0.2106406902748707 0.8331676583556928 1.0 1.0 7 Q9H9Y6 1 |
| Abnormality of alkaline phosphatase level 0.2850149361354185 0.2065789285123783 0.8363387179049511 1.0 1.0 24 P51798,Q14739,Q13501 3 |
| Facial cleft 0.4356080279605685 0.2061605373831304 0.836665512269323 1.0 1.0 5 Q8NCM8 1 |
| Agenesis of cerebellar vermis 0.463595839524519 0.2050478211772749 0.8375347628128571 1.0 1.0 2 Q03426 1 |
| Dysgenesis of the cerebellar vermis 0.4635958395245189 0.205047821177274 0.8375347628128578 1.0 1.0 2 P63000 1 |
| Abnormal hair pattern 0.2537727855046238 0.2046494182380812 0.8378460422640779 1.0 1.0 127 Q07020,Q9H2P0,P61353,P41229,P46777,O00754,P18077,P42766,O95630,P62899,P61313,P62847,Q9NXE4,O43933,P19022,P42858,Q9H9Y6,Q12768,O00443,Q96HP0 20 |
| Widely spaced incisors 0.5139189491842318 0.2041681361161935 0.8382221105709742 1.0 1.0 4 P46100,Q8WXI9 2 |
| Deviation of the hand or of fingers of the hand 0.250713131299915 0.2026094017203112 0.8394403409076108 1.0 1.0 123 O43933,Q9UBM7,Q86V48,Q9Y4A5,Q14739,Q15125,P42356,P78527 8 |
| Hypochromic anemia 0.3066414709540093 0.2022290536122578 0.8397376608413258 1.0 1.0 11 P46100,Q9Y4L1,P49327,P28288,O75533 5 |
| Hypoglycemic seizures 0.3499550158347017 0.2016147831721658 0.840217887255585 1.0 1.0 7 P53985 1 |
| Head banging 0.5053209963864472 0.2015738184313537 0.8402499149260998 1.0 1.0 3 Q96RL7 1 |
| Joint dislocation 0.2456950800300278 0.2014589374505518 0.8403397343150352 1.0 1.0 88 Q9UBM7 1 |
| Thoracic hypoplasia 0.2714717930484037 0.1963404776271181 0.8443436813373026 1.0 1.0 31 Q8NCM8,P42345,P51798,Q14739 4 |
| Congenital nonbullous ichthyosiform erythroderma 0.5087261427394315 0.193573476892446 0.8465098677225065 1.0 1.0 4 P19447,P04062 2 |
| Abnormal pupil morphology 0.2900185529946772 0.1935585837631953 0.846521530177718 1.0 1.0 15 Q12948 1 |
| Gowers sign 0.3004161243383971 0.193206103352549 0.8467975590099985 1.0 1.0 12 Q13510 1 |
| Impotence 0.3282568041739531 0.1929844523127735 0.8469711444633181 1.0 1.0 9 O00170,P07686 2 |
| Erectile dysfunction 0.3282568041739531 0.1929844523127735 0.8469711444633181 1.0 1.0 9 O00170,P07686 2 |
| Abnormal shape of the occiput 0.2692631295039612 0.1928745238955657 0.8470572373812861 1.0 1.0 32 O43933,Q12768,P62266,O00754 4 |
| Hypoplasia of the corpus callosum 0.2988387041827962 0.189901516727129 0.8493863039210543 1.0 1.0 197 Q9UBM7,Q9H7D7,Q15125,Q96N66,P07602,Q9H490,P67870,Q5SRE5,P60891,Q9H2P0,Q9NZJ7,P37268,Q9Y4A5,Q9NUQ7,P43034,Q93008,Q2M389,Q14118,Q9NZ01,Q5KU26,Q9BSV6,O95630,Q14204,Q13155,P08243,Q6ZXV5,Q9ULK4,P48449,Q6P1N0,P78527,Q2M1P5 31 |
| Abnormality of the amniotic fluid 0.2424341163400958 0.1896297710044666 0.8495992565902137 1.0 1.0 91 Q9UBM7,Q14739,Q15125,Q6PGP7,P27635,Q96I36,P51798,Q96HP0 8 |
| Highly arched eyebrow 0.251182705102399 0.1893646296367569 0.8498070443549364 1.0 1.0 62 Q5KU26,Q9Y4A5,P42858,O00754,Q96F07,Q8WVX9,P62266,Q2M1P5,Q5SRE5,O75962 10 |
| Subcapsular cataract 0.3452194259815821 0.1879931699491872 0.8508820053165851 1.0 1.0 7 Q12948 1 |
| Abnormal humerus morphology 0.4555720653789021 0.1872013147477523 0.8515027940424873 1.0 1.0 2 O75369 1 |
| Hyperkeratosis 0.2509218935401489 0.1871191867502653 0.8515671849955322 1.0 1.0 62 Q07954,P04066,P06280 3 |
| Hand muscle weakness 0.302284606961537 0.1860548144577611 0.8524017759709774 1.0 1.0 11 Q13501 1 |
| Atrophy degeneration affecting the cerebrum 0.3302792640327437 0.1858329599543096 0.8525757564072944 1.0 1.0 254 O14773,O75503,P04066,Q96N66,P05067,Q9Y4I1,P07602,Q9H490,P67870,Q92917,Q9NZJ7,O96008,P50897,Q2TAA5,Q9Y4A5,P16278,O00754,Q9NUQ7,P17900,Q2M389,P26358,O75165,O75352,O14617,Q15043,Q5KU26,Q709C8,Q9NZ01,Q14204,Q13155,Q9ULK4,P51970,Q86V48,P42858,Q6P1N0,Q96F07,Q13501,Q96HP0 38 |
| Cerebral hamartoma 0.5048180820633682 0.1858043772671091 0.8525981717473954 1.0 1.0 4 Q2M1P5 1 |
| Abnormal tricuspid valve physiology 0.2848526195620876 0.1847868918472485 0.8533961895908715 1.0 1.0 22 Q15904 1 |
| Acromesomelia 0.4511144130757818 0.177753704258735 0.8589164068779656 1.0 1.0 2 P63000 1 |
| Abnormal dental pulp morphology 0.3129633471467915 0.1744054863303603 0.8615468029311255 1.0 1.0 10 O43933 1 |
| Wide nasal ridge 0.4974669095589128 0.1716704663072757 0.8636966055468487 1.0 1.0 4 P27635 1 |
| Hashimoto thyroiditis 0.4481426448737013 0.1716412286088623 0.863719592681593 1.0 1.0 2 Q96J02 1 |
| Atypical absence seizure 0.4887317568032814 0.1687342115087539 0.8660057077022609 1.0 1.0 3 P43034 1 |
| Abnormality of the tragus 0.488317590882581 0.1679603514660951 0.8666144708385715 1.0 1.0 3 Q5SRE5 1 |
| Aplasia hypoplasia of the tragus 0.488317590882581 0.1679603514660951 0.8666144708385715 1.0 1.0 3 Q5SRE5 1 |
| Abnormal 5th finger morphology 0.2388585854236693 0.1672513133365415 0.8671723107777582 1.0 1.0 111 Q9UBM7,Q86V48,Q9Y4A5,Q14739,Q15125,Q8NCM8 6 |
| Severe global developmental delay 0.2484174803014298 0.1663226526457819 0.8679030400907384 1.0 1.0 73 O14617,O43933,Q9H7D7,P42858,O00584,Q9H490,Q9HC21,Q14118,P51970 9 |
| Inflammation of the large intestine 0.2804191812580391 0.1661116011883401 0.8680691245677854 1.0 1.0 17 Q6PGP7,O15143,P01889 3 |
| Myopathy 0.2415579371044074 0.1655125993820319 0.868540533727018 1.0 1.0 89 O43676,Q9BUK6,Q96RL7,P53007,P13473,Q8NFF5,Q9UIG0,O00754,Q86Y39,P35573,Q02809,P11310,O60231,Q86V48,Q9Y4P3,P46976,Q14126,Q13501,O95155,P00403,P06753,O75648,Q00325 23 |
| Chronic constipation 0.2693668904190076 0.1651943463213869 0.868791015113489 1.0 1.0 29 O75962,Q04637,Q8WVX9,Q93008,Q9H2P0,O75165,Q8WXI9 7 |
| Decreased absent ankle reflexes 0.2894538039288087 0.1649955299810084 0.8689475003957283 1.0 1.0 13 Q15120,Q13501 2 |
| Widely patent fontanelles and sutures 0.4163920934821728 0.1627760946381593 0.8706947309279298 1.0 1.0 5 O43933 1 |
| Retinopathy 0.266023256131994 0.1618621122971627 0.8714144393196601 1.0 1.0 31 P19447,P54132,P49327,P16455,Q9Y4I1,P40763,P01889,Q9BU61 8 |
| Fibular hypoplasia 0.3353265133073466 0.1608648458623504 0.8721998505897937 1.0 1.0 7 Q8NCM8 1 |
| Aplasia hypoplasia of the nipples 0.2789568899380171 0.159660641417881 0.8731484066871098 1.0 1.0 17 Q12768 1 |
| Irregular epiphyses 0.4146024345046347 0.1590026434862063 0.8736667911283764 1.0 1.0 5 P26373,Q9NUQ7 2 |
| Pancytopenia 0.2554461983827976 0.1575330201990615 0.8748247864128587 1.0 1.0 38 Q14108 1 |
| Abnormal ventricular septum morphology 0.2711248543249065 0.157111263563699 0.8751571607868747 1.0 1.0 158 O43933,Q9UBM7,Q9H7D7,Q14739,Q07020,Q14839,P62899,P61313,P62847,P18077,P27635,P42892,Q12768,P42766,Q8WYQ5,P06280,P61353 17 |
| Pituitary growth hormone cell adenoma 0.4893095257047593 0.1567265442139661 0.8754603663424914 1.0 1.0 4 O00170 1 |
| Contractures involving the joints of the feet 0.2791766395749505 0.1552698584684725 0.8766085768610588 1.0 1.0 22 Q8IZA0 1 |
| Abnormal circulating fatty acid concentration 0.2792216852655899 0.1549291155765768 0.8768771998658322 1.0 1.0 19 P11310 1 |
| Abnormal pancreas size 0.324335892339247 0.1533526299214217 0.8781201987846665 1.0 1.0 8 Q9UKG1,A5YKK6,P40763 3 |
| Abnormal salivary gland morphology 0.3399314003816688 0.1531930420005129 0.8782460445866622 1.0 1.0 6 P40692 1 |
| Abnormality of dna repair 0.3389852063108453 0.150910171166881 0.8800465769492589 1.0 1.0 6 Q9BXW9,P19447,P18074 3 |
| Generalized muscle weakness 0.2638902628299373 0.1487131306088625 0.8817799997289271 1.0 1.0 31 P10253,P42858 2 |
| Abnormal blistering of the skin 0.2774004643261092 0.1462630899474815 0.8837137024093722 1.0 1.0 22 Q86V48,P49327,P01889,P51798,O95155,Q9BUR4 6 |
| Delayed ability to walk 0.2463888121318125 0.145787814850578 0.8840888954653867 1.0 1.0 71 Q9H7D7,Q96N66,P53007,Q8N3U4,P67870,Q9Y4A5,Q99720,Q14118,Q14204,Q02809,Q7Z6Z7,P27635,Q8WVX9,Q6ZXV5,Q9UQR1,P48449,O75962,O75648,P18583,Q9NYY8 20 |
| Nephritis 0.2705285343479245 0.1455335855031675 0.884289600617683 1.0 1.0 26 Q9NZC9,Q12965,Q9P2R3,P49327,Q92621,P35579 6 |
| Abnormality of the lower urinary tract 0.3144615174528963 0.1440534567080873 0.8854582574511958 1.0 1.0 231 Q07864,Q9UBM7,Q04637,Q07020,P07602,Q9H2P0,P61353,Q9NZJ7,P37268,Q9Y4A5,Q99720,P46777,P18077,P15289,Q8NCM8,Q00839,Q93008,P42766,P26358,O75165,O95630,Q14839,P62899,P61313,P62847,P27635,Q12948,Q8WVX9,P01889,Q96HA7,Q9UBX3,P51970,O43933,P48449,Q86V48,O00170,P11166,P07686,Q6PGP7,P42345,Q13501,Q12768,Q8IY37,Q2M1P5,O75962,Q9BUR4 46 |
| Anophthalmia 0.2867653974815674 0.1436237717892975 0.8857975681011938 1.0 1.0 12 A6NHR9,O43505,Q2M1P5,Q14118 4 |
| Aplasia involving bones of the extremities 0.4814922191265811 0.1431415928997214 0.886178356762489 1.0 1.0 4 Q8NCM8 1 |
| Abnormal female reproductive system physiology 0.2459936048662155 0.1430820474352433 0.8862253831217726 1.0 1.0 64 P54132,Q9BUK6,P40763,O60879,P49257,Q9BZH6,Q6KC79,A6NHR9,Q15031,Q709C8,Q12830,Q14980,P01889,Q9NR50,Q14232,O43933,O00170,P49327,P49770,Q8IY37,P35579 21 |
| Increased circulating igm level 0.3203031870748162 0.1421816728557159 0.8869365076550197 1.0 1.0 8 P49327,P13051 2 |
| Weakness of muscles of respiration 0.2641602823966092 0.141756500035667 0.8872723449329902 1.0 1.0 30 P10253 1 |
| Decreased circulating androgen concentration 0.311755787639527 0.1413716519854005 0.887576347768668 1.0 1.0 9 Q9BZH6,Q8IY37 2 |
| Auditory hallucinations 0.4725505898216418 0.1401771096288969 0.8885200571893435 1.0 1.0 3 P19022 1 |
| Neonatal onset 0.2763597689068818 0.1399244883501889 0.8887196527209162 1.0 1.0 21 Q15904,Q9H490 2 |
| Abnormal blood monovalent inorganic cation concentration 0.2757172563878527 0.1372160789457601 0.8908600019625985 1.0 1.0 20 Q13423,O00170,Q99996 3 |
| Pyridoxine responsive sideroblastic anemia 0.3327049035145697 0.1361710205307237 0.8916860840118503 1.0 1.0 6 Q9BXW9,Q9NVS9,Q9NVI1 3 |
| Cranial hyperostosis 0.2754940196867635 0.1355831609005355 0.8921508181687741 1.0 1.0 15 O00754 1 |
| Tremor 0.2783607993226679 0.135077725607383 0.892550421145937 1.0 1.0 172 O14773,O75503,Q04637,O14802,Q9Y4I1,P07602,Q9BZH6,P60891,Q14108,Q9NZJ7,Q96CW1,P35251,Q99720,Q15120,P15289,P26358,P51798,O75165,Q15043,Q709C8,P27635,Q8WVX9,P11166,P42858,P04350,Q13510,Q96F07,Q13501,Q2M1P5,O75962 30 |
| Downslanted palpebral fissures 0.267128357709623 0.1348914926100037 0.8926976659871104 1.0 1.0 155 Q15392,Q9UBM7,Q15125,O14646,Q9HCK8,Q9H2P0,Q8TC12,Q93008,P80404,Q14204,O75970,P19022,P42858,Q6PGP7,Q96F07,P42345,Q9H9Y6,Q12768,Q2M1P5,O75962 20 |
| Aniridia 0.2810801659401256 0.1346782706375084 0.8928662541628039 1.0 1.0 13 Q12948,Q9UBC2,Q8IYB7 3 |
| Ulnar deviation of the wrist 0.4762742301800549 0.1344761037075039 0.8930261059216138 1.0 1.0 4 P16278 1 |
| Ovotestis 0.427934621099556 0.1340151771340735 0.8933905730797536 1.0 1.0 2 P53701 1 |
| Glomerulonephritis 0.2749574022221165 0.1331809081884121 0.8940503093915175 1.0 1.0 21 Q9NZC9,Q12965,P49327,Q92621,Q9P2R3 5 |
| Craniofacial asymmetry 0.4681926278240056 0.1330741344303453 0.8941347509233399 1.0 1.0 3 Q13363,O96028 2 |
| Malrotation of small bowel 0.4681926278240056 0.1330741344303453 0.8941347509233399 1.0 1.0 3 Q13363,O96028 2 |
| Abnormal sternal ossification 0.4681926278240056 0.1330741344303453 0.8941347509233399 1.0 1.0 3 Q13363,O96028 2 |
| Abnormality of mouth shape 0.2444511178711171 0.1323571367943459 0.8947018162149596 1.0 1.0 74 Q15125,P42345,P62266,P67870,Q8IY37,Q8WYQ5 6 |
| Aplasia cutis congenita of scalp 0.3238095238095261 0.1316182442267989 0.8952862542634665 1.0 1.0 7 Q13363,Q15149,Q8IWV7,O96028,Q14692,O95202 6 |
| Abnormal response to endocrine stimulation test 0.4664237360382777 0.1302620175837065 0.8963591295515421 1.0 1.0 3 Q13423 1 |
| Optic disc hypoplasia 0.3996705292727187 0.1293307220227612 0.8970959629080288 1.0 1.0 5 Q00839 1 |
| Hypoplastic labia minora 0.4727921498661995 0.1288727814194419 0.8974583143214456 1.0 1.0 4 Q99741,Q9H2M9,Q9NP72 3 |
| Clitoral hypoplasia 0.4727921498661995 0.1288727814194419 0.8974583143214456 1.0 1.0 4 Q99741,Q9H2M9,Q9NP72 3 |
| Severely reduced visual acuity 0.4240713224368517 0.1275978982428412 0.8984671944960905 1.0 1.0 2 P20839 1 |
| Delayed eruption of primary teeth 0.4643281807372059 0.126983488035789 0.8989534673850996 1.0 1.0 3 Q7Z5J4,Q92889 2 |
| Biliary atresia 0.4637336504161588 0.1260637681162035 0.8996814474663508 1.0 1.0 3 P36776,Q92889 2 |
| Fetal onset 0.3205402311915786 0.1237850502041394 0.9014854689778592 1.0 1.0 7 P27635 1 |
| Central adrenal insufficiency 0.3966268189421282 0.123682106568627 0.9015669797559585 1.0 1.0 5 O00170 1 |
| Increased intramyocellular lipid droplets 0.3265605715989995 0.1224523046994409 0.9025408169815592 1.0 1.0 6 O00483,Q9BUK6 2 |
| Cardiac diverticulum 0.3196492295395347 0.1216866128341873 0.9031472158516608 1.0 1.0 7 P40692,P52701 2 |
| Thin skin 0.2690154087963443 0.119895756647954 0.9045657259330868 1.0 1.0 24 P48651,P19447,P18074,O00170,O14802,Q96L58,P12955,Q02809,Q6ZXV5,P21333,P46821 11 |
| Aplasia hypoplasia of the humerus 0.3117141372026796 0.1195113576088538 0.904870242455917 1.0 1.0 8 O14802,P21333,O15228 3 |
| Insomnia 0.2687957417161097 0.1184473342758759 0.9057132223924352 1.0 1.0 16 P42858 1 |
| Encephalopathy 0.2292388178934341 0.1178467135180666 0.9061891153689254 1.0 1.0 104 O76075,Q9NZC9,Q5KU26,Q96F07,Q9NPL8,P07602,Q00839,Q86Y39,Q9NZJ7 9 |
| Increased circulating prolactin concentration 0.3179590360814008 0.1177489533149531 0.9062665774124395 1.0 1.0 7 O14802,O00170 2 |
| Periodontitis 0.2812379112202532 0.1147077701771049 0.908676754875564 1.0 1.0 11 O00203,P53634 2 |
| Abnormality of the pancreas 0.2370313658480349 0.1138820319624985 0.90933130930839 1.0 1.0 88 Q9NZC9,Q86V48,P21953,Q14739,P16455,Q15904,P01889,P14174 8 |
| Non midline cleft lip 0.309482983672397 0.1138758769602947 0.9093361885488138 1.0 1.0 8 Q2M1P5 1 |
| Aortic regurgitation 0.2602510840174419 0.1118038518269477 0.910978933358996 1.0 1.0 29 Q6ZXV5,O00754,P01889 3 |
| Abnormal endocrine physiology 0.4609032312796013 0.1108209591192147 0.911758324750805 1.0 1.0 4 Q13423 1 |
| Mild global developmental delay 0.2669052131680478 0.1091947688137317 0.913048009382271 1.0 1.0 17 Q9H2P0,Q9H7D7 2 |
| Abnormality of the bladder 0.2438514899642555 0.1087150564066925 0.9134284993548678 1.0 1.0 125 Q04637,P07602,Q9H2P0,Q9NZJ7,Q9Y4A5,Q99720,P15289,Q93008,Q00839,P26358,O75165,O95630,Q14839,Q8WVX9,P01889,P11166,O00170,P07686,Q13501,Q12768,O75962 21 |
| Gastroparesis 0.3139308565205465 0.1085922531808362 0.9135259054827178 1.0 1.0 7 Q709C8,P18583,Q96RR1 3 |
| Abnormal t cell morphology 0.2708164172556282 0.1082525537671922 0.9137953579720436 1.0 1.0 14 P49327,Q9NZC9,O00203 3 |
| Open mouth 0.2504843889332753 0.1081930188106085 0.9138425826317288 1.0 1.0 35 P42345,P62266,Q2M1P5,P67870,Q8WYQ5 5 |
| Defective dna repair after ultraviolet radiation damage 0.4586373446633445 0.1075692449121349 0.914337394399215 1.0 1.0 4 P19447,P18074 2 |
| Numerous pigmented freckles 0.4586373446633445 0.1075692449121349 0.914337394399215 1.0 1.0 4 P19447,P18074 2 |
| Pituitary hypothyroidism 0.3187152065381959 0.1059539980413157 0.9156188509024266 1.0 1.0 6 O00170 1 |
| Abnormal glomerular filtration rate 0.4089153046062426 0.1047707064454806 0.9165577549601888 1.0 1.0 2 Q9UBS4 1 |
| Pyelonephritis 0.4089153046062426 0.1047707064454806 0.9165577549601888 1.0 1.0 2 Q9UBS4 1 |
| Morphological abnormality of the corticospinal tract 0.2651329826294386 0.1045788466390788 0.9167100005853716 1.0 1.0 16 Q12768 1 |
| High forehead 0.2275394215664082 0.1028638548020721 0.9180710251706984 1.0 1.0 99 O43933,P42858,Q2TAA5,Q14739,Q96F07,P42345,Q15904,Q12768 8 |
| Vitiligo 0.3160942660254768 0.100698135391487 0.9197900915934336 1.0 1.0 6 P49327,P00403 2 |
| Localized skin lesion 0.3116663407043044 0.1005363394586464 0.9199185342560448 1.0 1.0 233 Q15392,Q15125,P16455,P07602,Q6P2Q9,P06280,Q92542,P53634,Q9NZJ7,P41229,Q658P3,Q14739,Q8IZA0,Q93008,Q00839,P27635,Q6ZXV5,P01889,Q14692,Q9NZC9,Q86V48,O00170,P42858,Q13510,Q6PGP7,P42345,Q9H9Y6,P10412,Q12768,Q96HP0,Q07954 31 |
| Tiger tail banding 0.444157363741509 0.0983274163855295 0.9216723085350944 1.0 1.0 3 P19447 1 |
| Abnormal mean corpuscular hemoglobin concentration 0.444157363741509 0.0983274163855295 0.9216723085350944 1.0 1.0 3 P19447 1 |
| Low set nipples 0.444157363741509 0.0983274163855295 0.9216723085350944 1.0 1.0 3 P19447 1 |
| Increased mean corpuscular hemoglobin concentration 0.444157363741509 0.0983274163855295 0.9216723085350944 1.0 1.0 3 P19447 1 |
| Concave nail 0.444157363741509 0.0983274163855295 0.9216723085350944 1.0 1.0 3 P19447 1 |
| Exaggerated cupid s bow 0.3091985172892768 0.0982467323838295 0.9217363748542792 1.0 1.0 7 Q00839 1 |
| Nocturnal seizures 0.4038632986627062 0.0979742273695755 0.9219527584688868 1.0 1.0 2 Q01082 1 |
| Palmar pits 0.4032689450222901 0.0972007069149744 0.9225670066680736 1.0 1.0 2 P16615 1 |
| Panhypogammaglobulinemia 0.3806400200819374 0.0962444896443223 0.9233263971673502 1.0 1.0 5 Q6PGP7,P19447 2 |
| Amaurosis fugax 0.2720097275830681 0.0957957188156408 0.9236828176134824 1.0 1.0 12 P40692,P01889 2 |
| Chronic noninfectious lymphadenopathy 0.4419075839945663 0.095452080920888 0.923955750287323 1.0 1.0 3 P49327 1 |
| Hyperreflexia 0.3187097538417947 0.0953823629199347 0.9240111245532444 1.0 1.0 247 O14773,O75503,Q96N66,P07602,Q6P2Q9,P60891,Q9NZJ7,P41229,Q2TAA5,Q99720,Q14739,P42356,O00754,P17900,P26358,P80404,Q5KU26,Q709C8,P01889,O43933,P42858,P07686,Q96F07,Q12768 24 |
| Ectopia lentis 0.2951161405598549 0.0953757009289805 0.9240164159299002 1.0 1.0 9 O96007,Q96L58,Q6W2J9,Q99496,O75533,Q9UDR5,O15533,Q9NZB8 8 |
| Abnormal fingernail morphology 0.238269455458883 0.0953299135096304 0.9240527832995736 1.0 1.0 57 O43933,Q14739,Q15125 3 |
| Slender build 0.2739416928977092 0.0927430234795894 0.9261077164884068 1.0 1.0 11 O14802,P04350 2 |
| Infertility 0.270850998433641 0.0923047607172743 0.9264559060151414 1.0 1.0 12 Q9BZH6,Q8IY37,P54132,Q02750 4 |
| Abnormality of thalamus morphology 0.2624663080351206 0.0918698797038323 0.9268014227448004 1.0 1.0 17 P11166,O00443,Q9BU61 3 |
| Short attention span 0.2542190082762037 0.090951261535052 0.927531318130598 1.0 1.0 142 Q9UBM7,Q96N66,P07602,Q9H2P0,Q9NZJ7,Q96CW1,O00754,Q9NUQ7,P15289,P49815,Q93008,Q2M389,P52701,Q9NZ01,Q709C8,Q71SY5,Q9ULK4,P11166,P19022,P42858,Q6P1N0,Q96F07,P40692,O75962 24 |
| Chromosomal breakage induced by crosslinking agents 0.4462210557876213 0.0908126953978828 0.927641422267371 1.0 1.0 4 Q9NVI1 1 |
| Contractures of the large joints 0.3967310549777136 0.089047999442276 0.9290437635680115 1.0 1.0 2 Q9Y263 1 |
| Abnormal globus pallidus morphology 0.2924359737939223 0.0885589783791211 0.9294324104488962 1.0 1.0 9 O43819,Q9H269,P22033,Q92947,Q13057,P24928,Q9BU61,O75306 8 |
| Abnormal electrophysiology of sinoatrial node origin 0.2693064255452886 0.0877124806708508 0.9301051997177758 1.0 1.0 12 Q99996 1 |
| Pain in head and neck region 0.2980507971765491 0.0866677810688728 0.9309355870054504 1.0 1.0 8 Q15043 1 |
| Autistic behavior 0.2949126112590636 0.085745768373487 0.9316685181793716 1.0 1.0 206 Q9UBM7,O75503,Q9H7D7,O14646,Q9HCK8,Q96N66,P67870,P41229,Q9Y4A5,Q2TAA5,Q9NUQ7,Q93008,Q2M389,Q86Y39,Q9NZ01,Q5KU26,Q709C8,Q14204,P27635,Q9NPL8,Q9ULK4,Q9BU61,P48449,P19022,Q86V48,P42858,Q6P1N0,Q96F07,P42345,Q13501,P62266,O75962 32 |
| Abnormality of the pubic hair 0.3081009499525898 0.0854613824792007 0.931894595429704 1.0 1.0 6 Q8IY37 1 |
| Abnormally large globe 0.2910696559513679 0.0851481377510478 0.9321436208439152 1.0 1.0 9 Q9H7D7 1 |
| Absent forearm bone 0.3070300282111418 0.0835105927187248 0.93344555504317 1.0 1.0 6 O75962 1 |
| Abnormal corpus striatum morphology 0.2589943513125778 0.0823773913917837 0.9343466139908824 1.0 1.0 16 P42858,Q9BU61 2 |
| Abnormal eosinophil morphology 0.300892857142859 0.0811701423131391 0.9353066441254364 1.0 1.0 7 O95394,P61011,P49327,Q05655,P40763,Q6P1M0 6 |
| Intellectual disability mild 0.2497558309636038 0.0805374667092667 0.9358097988763036 1.0 1.0 137 O14802,Q96N66,P67870,P60891,O00203,Q9NWX6,P16278,O00754,Q9NUQ7,P43034,Q15904,Q2M389,Q15800,Q14118,Q9NZ01,Q14204,P35573,Q71SY5,Q7Z6Z7,Q9ULK4,P11166,P42858,Q6P1N0,Q6PGP7,O75962,P35610 26 |
| Decreased facial expression 0.2593976731324489 0.0805302884645298 0.935815507743886 1.0 1.0 25 Q04637,P04062,Q6P1N0,Q9BUK6,Q6Y7W6,P06753,Q9Y3I1,A6NHR9,O75165,Q96QK1,Q96RR1,Q15043 12 |
| Osteolysis involving bones of the upper limbs 0.2891587931363023 0.0804509245062772 0.935878626225275 1.0 1.0 9 P53634 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.2624341460852558 0.0802700510592868 0.9360224771244592 1.0 1.0 23 Q14739,Q9BXW9,Q96L58,Q6KC79,Q32P28,O75962,Q9NVI1 7 |
| Tricuspid valve prolapse 0.4280618311533741 0.0791294907820043 0.9369296267996036 1.0 1.0 3 P21333,P53701 2 |
| Oculogyric crisis 0.2688732554234597 0.0783587808235337 0.9375426608106414 1.0 1.0 11 P67870 1 |
| Flared nostrils 0.3682366075468401 0.0775233465943547 0.9382072192627756 1.0 1.0 5 Q93008,O75179,Q96ST3 3 |
| Acute hepatic failure 0.2611077389020941 0.0768059985028726 0.9387778787223632 1.0 1.0 14 P01889 1 |
| Thick vermilion border 0.2325418159941377 0.0765704070131587 0.9389653015986276 1.0 1.0 89 P15586,P04066 2 |
| Early onset of sexual maturation 0.2372832243699837 0.0759228454493552 0.9394804812741182 1.0 1.0 47 Q9UBM7 1 |
| Absence of pubertal development 0.3661915982363298 0.0746492081356335 0.9404938208840544 1.0 1.0 5 Q8IY37 1 |
| Left atrial enlargement 0.4230083234244848 0.073746162396829 0.941212366484373 1.0 1.0 3 O95235,Q14315 2 |
| Abnormal left atrium morphology 0.4230083234244848 0.073746162396829 0.941212366484373 1.0 1.0 3 O95235,Q14315 2 |
| Myokymia 0.3815750371471046 0.0725688192269937 0.9421492399289196 1.0 1.0 2 O15020 1 |
| Aplasia hypoplasia of the fibula 0.2855557141791656 0.0718263613457749 0.9427400936771873 1.0 1.0 9 Q8NCM8 1 |
| Weakness due to upper motor neuron dysfunction 0.2598953329265605 0.0711933104912021 0.9432439053636704 1.0 1.0 153 P07602,Q13423,Q9BZH6,P60891,Q9NZJ7,P41229,P42356,O00754,P15289,P17900,P43034,P49815,O75251,P52701,O95630,Q8WVX9,Q8TAF3,P01889,Q9UBX3,P51970,P11166,Q9NZC9,Q86V48,Q13510,P42345,Q13501,P40692,Q15041,Q12768,Q8IYA6,Q96HP0 31 |
| Abnormal number of teeth 0.2356428130890763 0.0708736563608455 0.9434983098163188 1.0 1.0 81 Q9UBM7,Q9NZC9,Q8IYA6,O75962,Q99575,Q9NW13,O14802,A5YKK6,Q96F07,Q8ND04,Q9H9Y6,Q12948,P62266,Q8IY37,O00443,Q9BZH6,Q9BUR4,P53634 18 |
| Reticulated skin pigmentation 0.3794947994056484 0.0705594031191097 0.9437484214599432 1.0 1.0 2 O60832 1 |
| Distal upper limb amyotrophy 0.2657267729219841 0.0697939913627193 0.9443576297148412 1.0 1.0 11 Q13501 1 |
| Abnormality of the metaphysis 0.2348139800609367 0.0697212513547012 0.9444155268054092 1.0 1.0 57 Q9H7D7,Q99575,Q14739,P16278,Q9NUQ7,Q8NCM8,P51798,O00443,Q96HA7 9 |
| Mandibular aplasia 0.4281891168599561 0.0696082798415126 0.944505446568214 1.0 1.0 4 Q99741,O15111,P53701 3 |
| Abnormality of the extraocular muscles 0.4182520808561087 0.0689512326604166 0.9450284377567392 1.0 1.0 3 Q13509,Q9BVA1 2 |
| Everted upper lip vermilion 0.297290866510005 0.0667471071217435 0.9467830318426292 1.0 1.0 6 Q9H7D7,P46821,P04062 3 |
| Molluscum contagiosum 0.3723625557206558 0.0641087341432007 0.9488836473138412 1.0 1.0 2 Q03426 1 |
| Unusual skin infection 0.3723625557206558 0.0641087341432007 0.9488836473138412 1.0 1.0 2 Q03426 1 |
| Stroke like episode 0.421781071651963 0.0629372252116839 0.9498164921567148 1.0 1.0 4 P00403,P51970 2 |
| Autoimmune thrombocytopenia 0.2867093290359089 0.0624619410944065 0.9501949693388088 1.0 1.0 8 P40763,P49327,P50851 3 |
| Progressive proximal muscle weakness 0.3684992570579515 0.0608894016159934 0.9514472900704194 1.0 1.0 2 Q7Z392 1 |
| Split nail 0.4192552988748751 0.0604285743688989 0.9518143011802962 1.0 1.0 4 P19447,P18074 2 |
| Alveolar rhabdomyosarcoma 0.3679049034175354 0.0604107525994831 0.9518284949638436 1.0 1.0 2 Q9UPY3 1 |
| Nodular goiter 0.3679049034175354 0.0604107525994831 0.9518284949638436 1.0 1.0 2 Q9UPY3 1 |
| Distal amyotrophy 0.2353557974011088 0.0601518632125974 0.9520346838391924 1.0 1.0 63 P60891,P41229,Q99720 3 |
| Abnormal renal collecting system morphology 0.2895833333333351 0.0601315272683699 0.9520508802572054 1.0 1.0 7 Q7Z3K3,P28482,Q9BXW9,P53597,P41252,Q9Y4R8 6 |
| Hypertrichosis 0.223035359212139 0.0593542123202084 0.952669981999001 1.0 1.0 103 P19022,O00170,P16278,O00754,P15586,Q93008,Q00839,P62266,Q9H490,P54802,Q9BU61,P53634 12 |
| Symptomatic seizures 0.2849705638208379 0.058997219390917 0.9529543228605126 1.0 1.0 8 P53985 1 |
| Spastic gait 0.2574001130740846 0.0574002450765882 0.9542263677829004 1.0 1.0 23 Q9H7D7,Q8WVX9,Q8TAF3,Q15041,Q12768,Q15043 6 |
| Renal tubular acidosis 0.2523607387104591 0.0572118020411321 0.9543764768911124 1.0 1.0 15 O76075,Q9BU61 2 |
| Abnormality of the humerus 0.2563026035873423 0.0571979017687745 0.9543875495718944 1.0 1.0 13 O14802,P48651,Q96HA7 3 |
| Arthropathy 0.2909848259446612 0.0568239125931772 0.9546854652164644 1.0 1.0 6 O15269,O15270,P40763,Q6DD88,Q9Y3Z3 5 |
| Inability to walk 0.2328895077202892 0.056696078875232 0.9547872975975596 1.0 1.0 84 O75503,P42858,Q99720,P17480,Q13510,Q13155,P11166,Q96N66,P27635,Q8WVX9,Q15043 11 |
| Retinal atrophy 0.2508341140807386 0.055893719832323 0.9554264738583862 1.0 1.0 28 P04439,P42858 2 |
| Abnormal large intestine morphology 0.2283737647959941 0.0550351524545432 0.9561104586106076 1.0 1.0 92 Q07864,O15143,P46777,Q07020,P62899,P61313,P62847,P18077,Q6PGP7,Q9H9Y6,P42766,P01889,Q2M1P5,P63167,P61353 15 |
| Duplicated collecting system 0.2894971734602818 0.0545883289179293 0.9564664370692526 1.0 1.0 6 Q7Z3K3,P28482,Q9BXW9,P41252,Q9Y4R8 5 |
| Abnormal pulmonary thoracic imaging finding 0.2539424421787003 0.0542678140211543 0.9567217924412575 1.0 1.0 25 P01889 1 |
| Synovitis 0.4005938996810836 0.0533537139759819 0.957450083546098 1.0 1.0 3 O14802 1 |
| Ectropion 0.2566737399491499 0.052804393613026 0.9578877607898102 1.0 1.0 12 P19447,P60953,P18074,P04062,O14802,Q92889 6 |
| Nephrolithiasis 0.2558445277222891 0.0505500819739342 0.9596840407440324 1.0 1.0 23 Q9UBQ7,O00170,Q9Y4P3,Q9UIG0,P60891,O14745 6 |
| Abnormal shape of the palpebral fissure 0.2511068152797361 0.0476084264216961 0.9620283163331196 1.0 1.0 14 O14646,O75179,Q9NVI1 3 |
| Tubulointerstitial nephritis 0.2841263437233093 0.0468480207232832 0.9626343560209047 1.0 1.0 6 P09001 1 |
| Reduced sperm motility 0.3917954815695533 0.046803639517671 0.9626697282987238 1.0 1.0 3 Q9UBS4,Q14697 2 |
| Female infertility 0.3917954815695514 0.0468036395176699 0.9626697282987248 1.0 1.0 3 Q15645,Q86Y56 2 |
| Abnormality of urine homeostasis 0.2888252593049906 0.0464597316111123 0.9629438289264464 1.0 1.0 202 P04066,Q12965,P15586,P06280,P60891,Q14108,P21953,P53985,O00462,P16278,O00754,P54802,P10253,Q9HC21,P01889,Q92621,P11310,O43933,Q9NZC9,Q96I36,P35579 21 |
| Recurrent pneumonia 0.2542593167826182 0.0457892727505372 0.9634782089488598 1.0 1.0 20 O00203,P50851,Q02809,Q71SY5,P40763,Q96HA7,Q9BTW9 7 |
| Abnormal echocardiogram 0.3885255648037912 0.0445633437207062 0.96445536109001 1.0 1.0 3 P12235,Q96RR1 2 |
| Hypometric saccades 0.3863096673594127 0.0431028993841744 0.9656195080747548 1.0 1.0 3 O15020 1 |
| Microdontia 0.2473879273484328 0.0430126920226547 0.965691416446735 1.0 1.0 29 Q9NZC9,Q8IYA6,Q9UIG0,Q12948,O00443,Q96HA7 6 |
| Abnormality of the menstrual cycle 0.2291359912597495 0.0428652233214083 0.9658089710257194 1.0 1.0 53 Q9BUK6,P40763,O60879,P49257,Q9BZH6,O60216,Q6KC79,Q13144,A6NHR9,Q15031,Q8WWQ0,Q12830,Q14980,Q8N5K1,Q9NR50,Q14232,O43933,O00170,P49770,Q8IY37,P35579 21 |
| Abnormal platelet aggregation 0.3855531722202235 0.0426148190515906 0.966008582326839 1.0 1.0 3 O00203 1 |
| Acute leukemia 0.2290360547269256 0.0421879053035779 0.9663489041469108 1.0 1.0 53 Q07020,P62899,P61313,P62847,P18077,P42766,P61353 7 |
| Trophic changes related to pain 0.3846611177169974 0.0420460802816037 0.9664619638227548 1.0 1.0 3 O15270,O15269 2 |
| Emg slow motor conduction 0.3846611177169974 0.0420460802816037 0.9664619638227548 1.0 1.0 3 O15270,O15269 2 |
| Penetrating foot ulcers 0.3846611177169974 0.0420460802816037 0.9664619638227548 1.0 1.0 3 O15270,O15269 2 |
| Abnormality of the periungual region 0.3377399249709338 0.0406729577006326 0.9675566203786452 1.0 1.0 5 P49815,P40763 2 |
| Generalized tonic seizure 0.2499398220227874 0.0403017880766516 0.9678525282597958 1.0 1.0 18 P67870,P27635,Q14204 3 |
| Hemoglobinuria 0.3951828724353358 0.0397861086401779 0.9682636511623102 1.0 1.0 4 P11413,Q969N2,Q9H0P0 3 |
| Abnormality of the nasal alae 0.2764658878211902 0.03956756728797 0.9684378847350694 1.0 1.0 183 Q15392,Q9UBM7,Q9H7D7,O14802,O43395,P15586,Q6P2Q9,P60891,Q9H2P0,Q8WXI9,Q96CW1,Q9Y4A5,Q8TC12,P16278,P43034,Q93008,Q5KU26,P35573,Q13155,Q71SY5,Q7Z6Z7,Q8WYQ5,Q96HA7,Q16625,P11166,O43933,Q9NZC9,Q8IYA6,Q6PGP7,Q92620,Q2M1P5,Q8IY37,O00443,O75962 34 |
| Aplasia hypoplasia of the gallbladder 0.3801678839234531 0.0392914750237024 0.9686580033151024 1.0 1.0 3 A5YKK6 1 |
| Abnormal respiratory system morphology 0.3534938816661723 0.0390535167017883 0.9688477209705766 1.0 1.0 335 Q15392,Q9UBM7,Q9H7D7,Q9Y2Q5,P04066,Q15125,Q12965,P15586,Q9Y4I1,P07602,Q92917,P06280,P60891,Q14108,P53634,Q9NZJ7,P41229,Q9Y4A5,Q14739,Q8IZA0,O00462,P16278,P46777,O00754,P13051,Q8NCM8,Q93008,P54802,P10253,O14617,P02786,P27635,Q9NPL8,P01889,Q92621,Q8WYQ5,O43933,P42858,Q13510,Q13501,P78527,Q12768,Q96HP0,P14174 44 |
| Abnormal sperm motility 0.3919119833482082 0.0374148537738109 0.9701542293644552 1.0 1.0 4 Q86Y56,Q9UBS4,Q14697 3 |
| Abnormal upper limb bone morphology 0.2230810184987093 0.03671894346 0.9707091041309236 1.0 1.0 106 Q9UBM7,P42858,O75962,Q14739,P16278,Q8NCM8,Q93008,Q2M1P5,P51798,Q96HP0,O75531,Q96HA7,P53634 13 |
| Female hypogonadism 0.3318269244521262 0.0349561170846578 0.9721147329627762 1.0 1.0 5 O00170 1 |
| Thoracic aortic aneurysm 0.2358305427409633 0.034375308700711 0.9725778726348168 1.0 1.0 38 Q86V48,P01889 2 |
| Otosclerosis 0.3158989598811315 0.0329568698098823 0.97370898184708 1.0 1.0 2 Q12830 1 |
| Abnormality of the stapes 0.3158989598811315 0.0329568698098823 0.97370898184708 1.0 1.0 2 Q12830 1 |
| Abnormality of the middle ear ossicles 0.3158989598811315 0.0329568698098823 0.97370898184708 1.0 1.0 2 Q12830 1 |
| Pilomatrixoma 0.3680142687276985 0.0327168128044884 0.9739004163891836 1.0 1.0 3 P35222,Q9UPY3 2 |
| Germinoma 0.3680142687276985 0.0327168128044884 0.9739004163891836 1.0 1.0 3 P35222,Q9UPY3 2 |
| Abnormal temper tantrums 0.2703185471866569 0.0323836060526518 0.974166136106344 1.0 1.0 8 Q93009,P04062,Q6ZRS2,Q06787,Q9BVA1,P35222,Q9H2P0 7 |
| Knee flexion contracture 0.2490805744998845 0.0320026117239322 0.9744699681111686 1.0 1.0 25 P37268 1 |
| Severe varicella zoster infection 0.382771825684366 0.0312998088155665 0.9750304428776267 1.0 1.0 4 P54132 1 |
| Large iliac wing 0.3052005943536426 0.0300763331985902 0.9760061755620272 1.0 1.0 2 Q96L58 1 |
| Multiple gastric polyps 0.3052005943536426 0.0300763331985902 0.9760061755620272 1.0 1.0 2 P20585 1 |
| Abnormality of the forearm 0.2264636370304224 0.0287595142615478 0.9770563904516292 1.0 1.0 52 O60216,Q9UBM7,P48651,Q9Y4P3,Q96L58,Q9UIG0,Q9BXW9,Q6KC79,Q8NCM8,Q02750,Q32P28,O75962,O75531,Q9NVI1 14 |
| Medial flaring of the eyebrow 0.3576099881093872 0.0280239099073225 0.9776430812852376 1.0 1.0 3 Q9BW83,Q96ST3 2 |
| Abnormal renal medulla morphology 0.2644609624944754 0.0274538961954504 0.9780977114787232 1.0 1.0 9 O60231,Q8NCM8 2 |
| Palpebral edema 0.3232032626556096 0.0273907577415737 0.9781480697383927 1.0 1.0 5 A6NHR9,O00170 2 |
| Peripheral visual field loss 0.2918276374442815 0.0273772458778336 0.9781588466044038 1.0 1.0 2 P31040 1 |
| Choanal stenosis 0.3543832460730703 0.0267291415526558 0.9786757698339248 1.0 1.0 3 Q9H9Y6 1 |
| Hypertelorism 0.2986082963643329 0.0266503213572304 0.9787386368555272 1.0 1.0 222 Q9UBM7,P04066,Q15125,Q07020,P60891,P61353,Q9Y4A5,Q14739,P46777,P16278,O00754,P18077,Q00839,P42766,Q14839,P62899,P61313,P62847,Q12948,Q96HA7,O43933,P19022,P42858,O75962,Q6PGP7,P42345,Q9H9Y6,Q12768,Q8IY37,Q2M1P5,Q96HP0 31 |
| Color vision defect 0.2478092815289197 0.0264033757977125 0.9789356015926804 1.0 1.0 11 Q709C8 1 |
| Prenatal movement abnormality 0.2277170986252933 0.026384194536418 0.9789509006950744 1.0 1.0 55 Q96F07,Q9UBM7,Q9HC21 3 |
| Laryngeal dystonia 0.3523560651607584 0.0259524596612202 0.9792952573589848 1.0 1.0 3 P04350 1 |
| Limb pain 0.26359858248512 0.0258615571172535 0.9793677627594088 1.0 1.0 9 Q96HA7 1 |
| Macrovesicular hepatic steatosis 0.2671823861945883 0.0257252560938641 0.9794764790710216 1.0 1.0 6 Q5XKP0,Q96AX1,Q5JPH6,O75431,O75648 5 |
| Anencephaly 0.2435117727092672 0.0246675658940607 0.9803201258713012 1.0 1.0 13 Q2M1P5,Q92917 2 |
| Non hodgkin lymphoma 0.2404795650993827 0.0240431729105105 0.9808181716463564 1.0 1.0 15 Q07864,Q9NZC9,P40692,P52701 4 |
| Abnormality of circulating adrenocorticotropin level 0.2650671029950208 0.0239540719312542 0.9808892434727504 1.0 1.0 8 O00170 1 |
| Hypopigmented macule 0.3687184061849615 0.0232778833510889 0.9814286134626048 1.0 1.0 4 P49815,Q15233,Q9H488 3 |
| Osteomyelitis 0.2401026464293064 0.0230709886941149 0.9815936471928196 1.0 1.0 15 P26358 1 |
| Increased circulating iga level 0.3167081897713132 0.0222716503069975 0.9822312630490476 1.0 1.0 5 P49327 1 |
| Epileptic encephalopathy 0.2450643194537962 0.0219449659966597 0.9824918557216916 1.0 1.0 27 O76075,Q96F07,P43034,Q00839,P11166 5 |
| Cystic liver disease 0.3152885187388358 0.0212164889244041 0.9830729609835034 1.0 1.0 5 P49815,Q9UBS4,P14314,Q14697 4 |
| Abnormal mitochondrial shape 0.3583110318168376 0.0183234066605565 0.9853808547850628 1.0 1.0 4 P22570,Q00325,P53597 3 |
| Hydrocele testis 0.2610135632075286 0.0180716032848547 0.9855817315475206 1.0 1.0 7 Q96L73,Q9UBX3,Q9UJX6 3 |
| Epispadias 0.3103803593442252 0.0177391731264743 0.9858469299221216 1.0 1.0 5 P48651,P53701 2 |
| Severe intrauterine growth retardation 0.3230903594508544 0.0174978680663221 0.9860394336235196 1.0 1.0 3 O14802 1 |
| Abnormality of globe size 0.2304788987184513 0.0173286836096484 0.9861744028248878 1.0 1.0 69 P19447,Q9H7D7,Q15125,Q9BXW9,Q71SY5,Q9H9Y6,Q9NVI1,O43505,Q96I36,Q2M1P5,Q5SRE5,Q96HP0,A6NHR9,Q14118,O15347,Q96CW1,P11166 17 |
| Hyperthyroidism 0.2584871947587789 0.0167762393532126 0.9866151254794536 1.0 1.0 9 P53992,O14802,Q9BUK6,Q06787,Q92890,P21964,P12235,Q96RR1 8 |
| Abnormal b cell subset distribution 0.3112366230677661 0.0152846678953953 0.9878050743030506 1.0 1.0 3 P50851,P17812 2 |
| Persistent ebv viremia 0.3112366230677655 0.0152846678953953 0.9878050743030506 1.0 1.0 3 O95394,Q9H0U3 2 |
| Quadriceps muscle weakness 0.3094530321046271 0.0150000701983597 0.9880321243789888 1.0 1.0 3 P12235,Q96RR1 2 |
| Abnormality of the tonsils 0.2583333333333355 0.0149045191788342 0.9881083545403008 1.0 1.0 7 Q13546,P53992,P54132,Q92890,P31751,P21964 6 |
| Teratoma 0.306050311130548 0.0148850465487326 0.9881238897278452 1.0 1.0 5 Q9UJX6,P20585 2 |
| Abnormal morphology of the limbic system 0.2390222350808611 0.0144675317654548 0.9884569824499811 1.0 1.0 13 P67870 1 |
| Autoimmune antibody positivity 0.2419547079856976 0.0142070167233783 0.9886648220167416 1.0 1.0 11 P51617,O95394,Q13546,Q96J02,P61011,P49327,Q05655,P53621,P22314,Q9Y5L0 10 |
| Adenocarcinoma of the small intestine 0.3045806067816682 0.0139604697401877 0.9888615185391194 1.0 1.0 5 P78549,P40692,Q13485,P43246 4 |
| Decreased circulating level of specific antibody 0.2574362047305309 0.0138727851801796 0.9889314739212028 1.0 1.0 7 P49327,Q9H0U3,P50851 3 |
| Dermal translucency 0.2567639527852033 0.0138483414164476 0.9889509753495414 1.0 1.0 9 O14646 1 |
| Phocomelia 0.3005350772889343 0.0137443712160372 0.9890339236726504 1.0 1.0 3 Q15427,Q6KC79 2 |
| Premature ovarian insufficiency 0.2451851432146751 0.0125745545148782 0.98996722149049 1.0 1.0 20 P54132,P49327,P49770,O60879,Q13144,Q9NR50,O75616,Q14232,Q15031 9 |
| Sacrococcygeal teratoma 0.2811072498090105 0.011815495402369 0.990572817989144 1.0 1.0 3 Q9UJX6 1 |
| Neoplasm of the middle ear 0.2811072498090105 0.011815495402369 0.990572817989144 1.0 1.0 3 Q9UJX6 1 |
| Bilateral camptodactyly 0.2811072498090105 0.011815495402369 0.990572817989144 1.0 1.0 3 Q9UJX6 1 |
| Abnormal involuntary eye movements 0.3347483434411743 0.0107285068821777 0.9914400542080783 1.0 1.0 296 Q15392,Q9UBM7,O14773,O75503,Q15125,P07602,O00584,Q6P2Q9,P60891,Q9NZJ7,P35251,Q99720,P42356,O00754,P17900,Q8IV08,P26358,Q86Y39,O75352,Q5KU26,Q9NPL8,P01889,O43933,Q86V48,P42858,Q13510,Q96F07 27 |
| Abnormal eyelid physiology 0.2558565839046102 0.0105433353781204 0.9915877913355988 1.0 1.0 8 Q9H9Y6,Q96RL7,P04350 3 |
| Enuresis 0.2514863258026087 0.0103234574377619 0.9917632190007027 1.0 1.0 3 Q92796,Q9BZG8 2 |
| Hyperactive patellar reflex 0.2554331646323266 0.0099680719974384 0.992046760961389 1.0 1.0 8 O95394,P13073,P31040,P54886,Q15041,Q15233,P21912 7 |
| Failure of eruption of permanent teeth 0.2205707491081951 0.0097563337577138 0.9922156954177416 1.0 1.0 3 A6NHR9,O75369 2 |
| Atresia of the external auditory canal 0.2374802061270904 0.0088853587161641 0.9929106027474792 1.0 1.0 12 O60216,Q99741,Q6KC79,P61254,A6NHR9 5 |
| Thyroiditis 0.2528530384439846 0.008820247949446 0.992962551587266 1.0 1.0 7 P49327 1 |
| Abnormal cortical bone morphology 0.2401285503585423 0.008309249889936 0.9933702540913464 1.0 1.0 18 O00754 1 |
| Abnormal stomach morphology 0.224883937183989 0.0074059222676116 0.9940909829801996 1.0 1.0 89 O43933,Q9UBM7,Q86V48,Q14739,P16455,Q93008,Q6ZXV5,P63167 8 |
| Speech apraxia 0.2424830035089081 0.0063847658288018 0.9949057285324094 1.0 1.0 26 P42858 1 |
| Irregular vertebral endplates 0.2466541850047005 0.0063637611748382 0.9949224874810398 1.0 1.0 6 O14802,O15228 2 |
| Hepatic cysts 0.3197094554119244 0.0059477368925722 0.9952544205413152 1.0 1.0 4 P49815 1 |
| Duodenal stenosis 0.289899459741925 0.0058793265014453 0.9953090031818012 1.0 1.0 5 Q9NVI1 1 |
| Clubbing of toes 0.289899459741925 0.0058793265014453 0.9953090031818012 1.0 1.0 5 Q9NVI1 1 |
| Polycystic liver disease 0.3151947665774687 0.0050027563672947 0.9960083945831156 1.0 1.0 4 Q9UBS4,P14314,Q14697 3 |
| Antineutrophil antibody positivity 0.2873289708506757 0.0046674116811744 0.9962759578018948 1.0 1.0 5 P49327,Q96J02,P61011,Q05655 4 |
| Severe viral infection 0.2870315288518649 0.0045308443860176 0.9963849215857206 1.0 1.0 5 O95394,Q9H0U3,P54132,P17812 4 |
| Rheumatoid factor positive 0.3113291703835953 0.0042611089009154 0.996600137284642 1.0 1.0 4 Q13546,O95394,P49327 3 |
| Neurogenic bladder 0.2492057016118657 0.0017990137525487 0.9985645954764386 1.0 1.0 9 Q8N5K1,Q9BTW9,Q9UP83,Q9Y3I1 4 |
| Upgaze palsy 0.294297150941334 0.0016462877811502 0.9986864529901248 1.0 1.0 4 Q96RL7 1 |
| Fair hair 0.2801253003306656 0.0015661145097515 0.9987504219230297 1.0 1.0 5 O00203 1 |
| Increased circulating igg level 0.286946179006848 0.0007999283985195 0.9993617495491414 1.0 1.0 4 O95394,P49327,Q05655 3 |
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