| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Anal atresia 0.7244037890636339 3.3025824033138105 0.0009579893603466 0.984829765932626 0.8874611413870889 16 O60934,Q86W42,P53701,P21964,Q96ST3,P36776,O15344,P29372 8 |
| Abnormality of the nail 0.4651619912524711 3.269899262792928 0.001075857904508 0.9909413024774288 0.8874611413870889 86 Q14574,Q9Y4R8,Q99575,Q969G3,P21281,P46109,P53701,P28482,O75844,Q06136,P52732,P15924,Q6NW34,Q9Y4A5,O60341,P04066,P42892,Q14739,Q7Z6Z7,O95453,Q9H2M9,P11172,Q9H1A4,Q03001,Q96ST3,Q15738,P51812,O96028,O14802,Q12756,O60832,Q9UQ13,P17612,Q9Y487,Q96T60,Q9Y619,P51149 37 |
| High anterior hairline 0.679639523877927 3.0180765705242676 0.0025438462049056 0.9999853456217545 0.8874611413870889 17 Q86W42,Q5H8A4,Q9BZK7,Q6NW34,Q8N3U4,Q16851,P21281,Q96ST3,O60341,Q92643,O15344,P29372 12 |
| Hyperpigmentation of the skin 0.4290638753803226 2.967530697136428 0.0030020230425398 0.9999980321553992 0.8874611413870889 66 P21281,P53701,Q9Y2U8,P28482,O75844,O60934,Q06136,Q7Z392,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15645,O75531,P04062,O95453,Q9H1A4,Q96ST3,Q06124,O60832,Q15437,Q6PGP7,Q9UQ13,O96019 24 |
| Prenatal maternal abnormality 0.7440893521584566 2.689117678754578 0.0071641158915456 0.9999999999999774 0.8874611413870889 11 Q14739,P57076,P22570 3 |
| Horizontal nystagmus 0.6215953088471579 2.6328104722105494 0.0084681587041808 1.0 0.8874611413870889 17 P04062,O60313,Q9H061,O15020,O14773,P54886 6 |
| Ambiguous genitalia 0.6139211867394869 2.58364393704711 0.0097762664430158 1.0 0.8874611413870889 16 O60566,Q15392,P21281,P51809,P53701,P22570,Q15645 7 |
| Skin rash 0.6340268849075198 2.551797619535598 0.0107168749523265 1.0 0.8874611413870889 15 Q06136,Q14739,P14174,P61011 4 |
| Myopia 0.3921949400214552 2.475084711923235 0.0133204576609062 1.0 0.8874611413870889 74 Q86W42,Q969G3,P21281,P11047,P35222,P52732,Q9Y5P6,Q7Z392,Q13868,Q7Z6Z7,Q15233,Q00577,Q9UHX1,O14802,Q06124,Q15437,Q9UQ13,Q9Y487,Q05086 19 |
| Coxa valga 0.6213834941817735 2.4698079099459456 0.0135185621682365 1.0 0.8874611413870889 15 Q99575,P46109,P04066,P28482,Q9Y619,P55011,O75844 7 |
| Abnormal lung lobation 0.7163289523015868 2.4468397344730324 0.0144114905271488 1.0 0.8874611413870889 10 O60566,P21964,Q92979,Q9UHX1,Q14739,Q15645 6 |
| Aplasia hypoplasia involving the vertebral column 0.7152104231659925 2.440886931636966 0.0146512411822834 1.0 0.8874611413870889 10 Q15738,Q14739,P04066,O14802 4 |
| Erythema 0.6735452389433982 2.40235705607251 0.0162897996592412 1.0 0.8874611413870889 12 Q06136,P15924,P53701,Q9H1A4,Q15738 5 |
| Abnormality of the anus 0.5797854103107043 2.3663329940098805 0.0179652775905485 1.0 0.8874611413870889 26 O60934,Q86W42,Q9H9B1,O60832,P53701,P21964,Q96ST3,P36776,O15344,Q15022,P29372 11 |
| Anophthalmia 0.8295632171340337 2.3456909932884873 0.0189918454379669 1.0 0.8874611413870889 6 O43505,P52732,P53701 3 |
| Abnormal vagina morphology 0.6237126611342235 2.342025072066284 0.0191794264590183 1.0 0.8874611413870889 14 O60566,Q8IY37,Q9UBM7,P51809,P36776,Q16531,Q15645 7 |
| Limb ataxia 0.600364004704035 2.3319407991510266 0.0197038057618466 1.0 0.8874611413870889 15 O14773,P04062,O15020 3 |
| Recurrent sinopulmonary infections 0.7749675085687572 2.2524512868451954 0.0242937678096826 1.0 0.8874611413870889 7 O60934,P61011,P57076,Q9Y487,P02786 5 |
| Anonychia 0.6469402021889059 2.247993466836361 0.0245766065116941 1.0 0.8874611413870889 12 Q96T60,P21281,P46109,Q14739,P28482 5 |
| Absent fingernail 0.7399803229160653 2.247335900216139 0.0246185681798258 1.0 0.8874611413870889 8 P28482,Q96T60,P21281,P46109 4 |
| Agenesis of corpus callosum 0.3915839579615824 2.2414979224462193 0.0249938399516833 1.0 0.8874611413870889 64 Q5H8A4,Q969G3,P53701,O15344,Q9Y5P6,Q8N3U4,Q15392,P42695,P00403,P78318,P55011,Q9BPU6,O60508,Q9H2M9,Q9UHX1,O96028,O14802,P29372,Q8TAQ2,O60566,O43505,P36776,Q15022 23 |
| Central scotoma 0.8046563811591533 2.23386623308394 0.0254918759407716 1.0 0.8874611413870889 6 Q9H061,P22570 2 |
| Incisor macrodontia 0.6753709619287366 2.2262682662968616 0.025996217733174 1.0 0.8874611413870889 10 Q7Z6Z7,Q00577,P55011,O96019 4 |
| Abnormal incisor morphology 0.6753709619287366 2.2262682662968616 0.025996217733174 1.0 0.8874611413870889 10 Q7Z6Z7,Q00577,P55011,O96019 4 |
| Thoracolumbar scoliosis 0.7691625213864358 2.2250569494678043 0.0260774152935685 1.0 0.8874611413870889 7 Q99575,P21281,Q6NW34,P78318 4 |
| Toxemia of pregnancy 0.8555105757342747 2.2208153265978776 0.0263634720649532 1.0 0.8874611413870889 5 Q14739,P22570 2 |
| Abnormality of skin pigmentation 0.3996867779050752 2.2143046415490684 0.0268078295500089 1.0 0.8874611413870889 97 P07602,P21281,P53701,P35222,Q9Y2U8,P28482,O75844,Q06136,O60934,Q7Z392,P21964,P00403,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15645,O75531,P04062,P51798,O95453,Q9H1A4,Q03001,Q96ST3,Q06124,O60832,Q15437,Q6PGP7,O60566,Q96C86,Q9UQ13,O96019,Q15022,Q9NYB0,Q05086 35 |
| Dysmetric saccades 0.7973148467892059 2.2006426870806672 0.0277613291257754 1.0 0.8874611413870889 6 O15020 1 |
| Tachycardia 0.5779466884546918 2.1827794019468123 0.0290520592715399 1.0 0.8874611413870889 15 P42892,Q03001,O43772,Q9BTV4 4 |
| Abnormal enchondral ossification 0.5572722020346975 2.182702069873046 0.0290577574062849 1.0 0.8874611413870889 18 P61011,Q9UBM7,P36776,Q15738,O96028,Q9NUQ7,Q9Y619,O75381,Q14739 9 |
| Absent toenail 0.7585590719032467 2.1748083471707025 0.0296444813196157 1.0 0.8874611413870889 7 Q14739,P28482,P21281,P46109 4 |
| Vertebral hypoplasia 0.7565303678315978 2.1651637427832995 0.03037514787804 1.0 0.8874611413870889 7 Q15738,Q14739 2 |
| Chronic neutropenia 0.8417611927616773 2.161681271268466 0.0306427522220307 1.0 0.8874611413870889 5 P61011 1 |
| Abnormal femoral neck head morphology 0.540643618518095 2.157032099094166 0.0310031634772083 1.0 0.8874611413870889 33 Q9H3U1,Q9Y487,Q99575,P61011,P46109,P04066,Q14739,P55011 8 |
| Ovoid vertebral bodies 0.7865852508308344 2.151873506438612 0.0314073184197736 1.0 0.8874611413870889 6 P61011 1 |
| Abnormality of the upper respiratory tract 0.3656312764698329 2.1501571529609063 0.0315427860697705 1.0 0.8874611413870889 71 P07602,Q14807,P43246,P61011,Q969G3,O15344,O60934,Q15165,P21964,P04066,P57076,P52701,Q14739,O95453,A6NHR9,Q9UHX1,O14802,P29372,Q8TAQ2,O60832,Q9UBM7,Q86Y56,P36776,P00813 24 |
| Abnormal femoral neck morphology 0.546603753587578 2.133801938944002 0.0328589971251431 1.0 0.8874611413870889 28 P28482,Q99575,P61011,P46109,P04066,P51812,Q9Y487,Q9NUQ7,Q9Y619,P55011,O75844 11 |
| Cleft upper lip 0.5492869100975148 2.122244075809078 0.0338172470270998 1.0 0.8874611413870889 23 O60934,Q5H8A4,Q14683,Q15427,O15160,P46777,Q8N3U4,O96028,Q13045,Q15738,O15344,P29372,Q9NXE4 13 |
| Scotoma 0.6838030838046542 2.1107550794368355 0.0347933690210473 1.0 0.8874611413870889 9 Q9H061,P22570 2 |
| Joint hypermobility 0.3600524903554645 2.104810498305329 0.0353078069596628 1.0 0.8874611413870889 69 Q5H8A4,P21281,P46109,Q9BZI7,P28482,Q03164,Q6NW34,P21964,O60341,Q7Z6Z7,Q15056,Q8N0X7,P55011,Q9BPU6,Q9H490,Q96ST3,Q9UHX1,P51812,Q15738,P54886,P07237,O14802,Q08J23,Q06124,P62140,Q15904,P36776,O96019,Q9Y487,Q15022,Q9Y619,P22681,Q05086 33 |
| Fat malabsorption 0.7760908402701527 2.1039300134833208 0.0353845524295932 1.0 0.8874611413870889 6 P61011 1 |
| Nasal speech 0.5457366337521965 2.096599329709273 0.0360290586763143 1.0 0.8874611413870889 19 Q9UQ13,P21964,O96019,Q7Z6Z7,Q9Y487,P55011 6 |
| Abnormal metatarsal morphology 0.5619349171754557 2.0749264851299256 0.0379933486406465 1.0 0.8874611413870889 15 Q14807,O43505,Q9H2M9,Q15392,Q96S52,Q9UBM7,O96028,P28482 8 |
| Intellectual disability mild 0.3842348124413989 2.072159695460592 0.0382505507488477 1.0 0.8874611413870889 92 P61011,P35573,Q9UDR5,P35222,O15020,Q9UBB6,Q9Y2U8,Q9NUQ7,P52732,Q9Y5P6,P21964,Q13868,Q7Z6Z7,Q9H269,P55011,Q9BPU6,Q13217,Q15233,Q9H2M9,P11166,Q96ST3,Q13618,Q15738,P51812,O14802,Q06124,Q12756,Q5JRA6,Q96C86,O96019,Q05086,P15311 32 |
| Progressive gait ataxia 0.7029865089031706 2.062846711172496 0.0391271944138651 1.0 0.8874611413870889 8 O14773,P54886,Q05086,O15020 4 |
| Congenital nystagmus 0.6442427334708511 2.055100796955645 0.0398692699740963 1.0 0.8874611413870889 10 Q7Z6Z7,P21281,O96019,P55011 4 |
| Premature loss of teeth 0.6422137943516227 2.043840400424299 0.0409693165555591 1.0 0.8874611413870889 10 O60832,Q5JRA6,P51798,P61011,O14802 5 |
| Abnormal paranasal sinus morphology 0.5564625301441997 2.037821281455589 0.0415678092636868 1.0 0.8874611413870889 15 O60934,A6NHR9,P61011,Q86Y56,P04066,P57076 6 |
| Aplasia hypoplasia of the hallux 0.5929920811116982 2.0288040401543856 0.0424782536362893 1.0 0.8874611413870889 13 Q5H8A4,Q9UHX1,O96019,Q7Z6Z7,P55011,Q9BPU6 6 |
| Incomitant strabismus 0.6390432975573996 2.0262195115766786 0.0427422950377196 1.0 0.8874611413870889 10 O96019,P55011,O60313 3 |
| Metaphyseal widening 0.6087025768041177 2.021802233632757 0.0431967869389136 1.0 0.8874611413870889 12 P61011 1 |
| Micropenis 0.4679265567719808 2.020786309104806 0.0433018906782594 1.0 0.8874611413870889 49 Q86W42,P53701,P46977,Q9BZK7,Q9Y5P6,P51809,Q7Z6Z7,P42892,Q9BPU6,Q9H2M9,A6NHR9,O95470,Q96ST3,Q06124,O60566,O43505,Q9UBM7,Q96T60,Q9Y619 19 |
| Abnormality of the palm 0.3671844363221299 2.020527562191948 0.0433286941613111 1.0 0.8874611413870889 80 Q9Y4R8,P21281,P46109,Q9Y2U8,P28482,Q06136,Q9BZK7,P15924,Q96S52,Q7Z392,Q14739,Q14126,Q9BPU6,Q9NXE4,O95453,Q9H2M9,Q96ST3,Q9UHX1,P51812,O60832,Q15437,Q9UQ13,P36776,Q9Y487,Q9Y619,O75381 26 |
| Broad finger 0.5352696163042957 2.017757902416315 0.0436164811866062 1.0 0.8874611413870889 23 P51812,Q6NW34,Q96T60,Q9UHX1,O96019,Q13868,Q7Z6Z7,Q15022,P55011,Q9BPU6 10 |
| Abnormal pulmonary valve morphology 0.6648205757674933 2.0105983521815225 0.0443678982589879 1.0 0.8874611413870889 9 P21964,O14802,Q06124 3 |
| Lumbar hyperlordosis 0.5877028917579011 1.9958570625783232 0.0459494835238438 1.0 0.8874611413870889 13 Q15738,Q9H2M9,P04066 3 |
| Papilledema 0.5696060767731761 1.9954026949053705 0.0459989772585096 1.0 0.8874611413870889 14 P04062,Q969G3,O96019,P35222,P55011 5 |
| Nail dysplasia 0.5313345256800549 1.9874338469555517 0.0468743399828905 1.0 0.8874611413870889 21 O60832,P15924,P51812,Q99575,P21281,P17612,Q9Y4A5,Q9H1A4,P42892,O96028,Q9Y619 11 |
| Abnormality of the phalanges of the toes 0.6877494166042839 1.985826365224122 0.0470526071683687 1.0 0.8874611413870889 8 Q12756,Q96T60,P21281 3 |
| Abnormal shape of the frontal region 0.3600595001245831 1.9848185472995563 0.0471646631907531 1.0 0.8874611413870889 76 Q5H8A4,P21281,Q9UPY3,Q9Y2U8,O15344,P55263,Q8N3U4,Q15392,Q16851,O60341,P04066,Q9P2J5,Q14739,Q15645,Q15233,Q00577,P51798,P51812,O96028,P54886,P07237,O14802,P29372,Q6PGP7,O60566,Q9Y487,Q9Y619 27 |
| Thoracolumbar kyphosis 0.7436725105958628 1.9543358905604116 0.0506615069967772 1.0 0.8874611413870889 6 Q6NW34,P04062 2 |
| Aplasia hypoplasia affecting the fundus 0.5233663951018361 1.9513732021700283 0.0510126668745076 1.0 0.8874611413870889 16 Q9Y5P6,P37268,Q8N3U4,Q16851,O14802 5 |
| Bradycardia 0.711210783580033 1.9471788578715437 0.0515132954601695 1.0 0.8874611413870889 7 Q03001,O43772,Q9BTV4 3 |
| Hypoplastic vertebral bodies 0.8431365203709552 1.941768560260912 0.0521651245647589 1.0 0.8874611413870889 4 Q14739 1 |
| Broad long bones 0.5251221102524549 1.9408093743542896 0.0522814035369951 1.0 0.8874611413870889 22 Q6NW34,Q96T60,Q9UHX1,O96019,Q13868,Q7Z6Z7,Q15022,P55011,Q9BPU6 9 |
| Poor speech 0.3830267301659569 1.9361746422041717 0.0528463150870595 1.0 0.8874611413870889 62 O00584,Q9Y4R8,P21281,P35222,Q9UBB6,Q9NUQ7,P55263,P22570,Q05682,Q9Y5P6,Q8N3U4,Q7Z392,P55011,Q15233,P28331,Q12756,Q96C86,Q9Y487,Q05086,P15311 20 |
| Hydrocephalus 0.4157778099697923 1.9353579843892632 0.0529463814194282 1.0 0.8874611413870889 57 Q969G3,P53701,P35222,Q9Y5P6,Q8N3U4,Q15392,P21964,P57076,Q9H490,P04062,P51798,O60508,P11166,O96028,P07237,O14802,Q12756,Q9H3U1,O60566,O43505,Q9UQ13,Q9UBM7,Q92947 23 |
| Abnormal oral frenulum morphology 0.6225727769608116 1.9341971069588504 0.0530888979688808 1.0 0.8874611413870889 10 Q9Y4R8,P21281,P17612,P46109,P28482 5 |
| Short palm 0.5599950953121474 1.9326574594768504 0.0532784089838789 1.0 0.8874611413870889 14 Q9BZK7,Q9H2M9,P46109,Q9UHX1,P28482,Q9Y619 6 |
| Intestinal malrotation 0.5234826849891182 1.929227415470167 0.0537026361184431 1.0 0.8874611413870889 23 Q9NSD9,Q15392,O96028,Q9UBM7,P21964,Q86Y56,P57076,Q9Y2U8,Q14739,P55011 10 |
| Nail dystrophy 0.5233002570041387 1.9278525998971088 0.0538734629655233 1.0 0.8874611413870889 23 Q12756,O60832,P15924,Q969G3,P21281,Q9H1A4,Q03001,P51149,O75844 9 |
| Aplasia hypoplasia of the nails 0.4483589764105508 1.9232482395807384 0.0544488816128034 1.0 0.8874611413870889 51 Q9Y4R8,Q99575,Q969G3,P21281,P46109,P28482,O75844,P15924,Q6NW34,Q9Y4A5,O60341,Q7Z6Z7,Q15056,Q14739,O95453,P51812,O14802,Q08J23,Q8TAQ2,P62140,O60832,Q9UQ13,Q15022,Q9Y487,Q96T60 25 |
| Pedal edema 0.7361709599381836 1.9194066536335364 0.0549328895429754 1.0 0.8874611413870889 6 Q14108,P04062 2 |
| Coxa vara 0.6189884580799341 1.9140657112291624 0.0556117600686367 1.0 0.8874611413870889 10 Q9Y487,P61011 2 |
| Increased cerebral lipofuscin 0.7844748305770386 1.9115082832617696 0.0559392933445268 1.0 0.8874611413870889 5 O14773,O75503 2 |
| Conical tooth 0.8350045578851464 1.907726837984682 0.0564265310834735 1.0 0.8874611413870889 4 Q9H1A4,Q9Y487,P21281 3 |
| Alacrima 0.8347783650673994 1.906778552339204 0.0565492698313214 1.0 0.8874611413870889 4 Q03001,P55011 2 |
| Vascular skin abnormality 0.3603608973212118 1.906018108577531 0.0566478562562045 1.0 0.8874611413870889 81 P53701,Q13126,P35222,P28482,O75844,Q06136,Q9BZK7,P15924,P21964,P04066,P00403,Q14739,Q14108,P04062,P51798,O95453,Q9H1A4,Q15738,P51812,P54886,O14802,Q06124,O60832,Q6UN15,Q15437,P17612,Q9Y487 27 |
| Absent septum pellucidum 0.5193510104816534 1.9031279379709845 0.0570238532597586 1.0 0.8874611413870889 25 P51571,O43505,Q96C86,Q8N3U4,Q15392,P53701,Q9UBB6,O96028,Q9NUQ7,P55011,P15311 11 |
| Slender build 0.616238071943925 1.8985930626650875 0.0576180012510985 1.0 0.8874611413870889 10 Q15233,Q9NSD9,P17612,P49591,Q9BZI7,Q15738,O14802 7 |
| Decreased fertility in females 0.7303082851672612 1.8920288156973304 0.0584871415834054 1.0 0.8874611413870889 6 P57076,P51809 2 |
| Metaphyseal dysplasia 0.6677138443933389 1.8836655079640932 0.0596102347978528 1.0 0.8930096472444168 8 P36776,Q99575,P61011 3 |
| Abnormal fingertip morphology 0.516986398806136 1.8832225829183653 0.0596702098387573 1.0 0.8930096472444168 20 Q9BPU6,P15924,Q9BZK7,Q9H2M9,O96019,Q7Z6Z7,P55011,O75844 8 |
| Abnormality of the septum pellucidum 0.5116111599298938 1.87967682885191 0.0601521353730722 1.0 0.8971495958372898 30 P51571,P28482,O43505,Q96C86,Q8N3U4,Q15392,P53701,Q9UBB6,O96028,Q9NUQ7,P55011,P15311 12 |
| Atrioventricular canal defect 0.6958606214441632 1.8722790256497568 0.0611680109641192 1.0 0.9045233815796836 7 P36776,Q9UHX1,P17612,Q06124 4 |
| Acute lymphoblastic leukemia 0.6114760218665993 1.8717526792211476 0.0612408277574232 1.0 0.9045233815796836 10 O60934,O60566,P43246,P61011,Q08J23,Q15645 6 |
| Recurrent respiratory infections 0.370169767168525 1.8715601015142904 0.0612674876310266 1.0 0.9045233815796836 92 P07602,Q9H9B1,P00813,Q5H8A4,P61011,Q969G3,P11047,P46109,Q9UDR5,P28482,O60934,P29144,Q6NW34,Q16851,P04066,P57076,P78318,Q00577,P04062,P51798,O95453,Q9H2M9,P11172,P14174,O95235,O96028,O14802,Q8TAQ2,Q12756,O60832,P48506,Q86Y56,Q9Y487,P02786 34 |
| Unilateral renal agenesis 0.5121700976159138 1.8629780471368569 0.0624653549043308 1.0 0.9054928107951468 17 Q86W42,Q9UHX1,P42695,Q06124 4 |
| Hand muscle weakness 0.7723098144398511 1.8576298020073496 0.063221603390148 1.0 0.9054928107951468 5 P11047 1 |
| Abnormal skin morphology of the palm 0.3481533484392329 1.8572623564485096 0.0632738372458325 1.0 0.9054928107951468 66 Q9Y4R8,P21281,Q9Y2U8,Q06136,Q9BZK7,P15924,Q96S52,Q7Z392,Q14739,Q14126,Q9NXE4,O95453,Q96ST3,Q9UHX1,P51812,O60832,Q15437,Q9UQ13,P36776,Q9Y487,O75381 21 |
| Impaired tandem gait 0.6353014862294158 1.852896463940283 0.0638972000464732 1.0 0.9075657155273952 9 P55011,O96019 2 |
| Abnormal spermatogenesis 0.6080130195063799 1.8521941191725608 0.0639979529555159 1.0 0.9075657155273952 10 P51809 1 |
| Brachydactyly 0.4358273569333708 1.845453020318205 0.0649716664971713 1.0 0.9075657155273952 52 Q9H9B1,Q9Y4R8,Q99575,P21281,Q06136,Q6NW34,Q96S52,O60341,Q92643,Q13868,Q7Z6Z7,Q14739,Q8N0X7,Q14683,P11166,Q96ST3,Q9UHX1,P51812,Q08J23,Q06124,P62140,Q15437,Q96C86,Q9UQ13,Q9UBM7,P36776,P22681 27 |
| Intellectual disability progressive 0.6334044654291625 1.8426837767024535 0.0653751940557496 1.0 0.9075657155273952 9 Q9H2M9,Q05086,Q9H9P8 3 |
| Infectious encephalitis 0.7193160308575859 1.8405119512198025 0.0656931112966692 1.0 0.9075657155273952 6 Q9H9P8 1 |
| Abnormal lumbar spine morphology 0.6585357885002668 1.836541933149834 0.0662775462432541 1.0 0.9075657155273952 8 Q6NW34,P04062 2 |
| Abnormal hair whorl 0.5621848700784706 1.835564930296062 0.0664220278503013 1.0 0.9075657155273952 13 Q7Z6Z7,P55011,O96019 3 |
| Osteoarthritis 0.6572742590102258 1.830049257878551 0.0672425735162809 1.0 0.9075657155273952 8 P04062,P51798,Q9NUQ7,Q14108,O75844 5 |
| Prominent forehead 0.4116600749159696 1.8197535550473467 0.0687965435603386 1.0 0.9110330162384233 56 O15344,P52732,Q15392,Q9Y4A5,O60341,P04066,Q92643,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q00577,P11166,Q9UHX1,P51812,P54886,P29372,Q6PGP7,Q9UQ13,O96019,P31939 21 |
| Hypoplastic fingernail 0.5586964370230826 1.8134875382706672 0.0697566589299079 1.0 0.9136776834674338 13 P51812,Q14739,Q969G3,P21281 4 |
| Absent toe 0.5225556264694435 1.8053038855686248 0.0710271419552439 1.0 0.9136776834674338 15 Q5H8A4,Q9UHX1,O96019,Q7Z6Z7,P55011,Q9BPU6 6 |
| Abnormal right ventricle morphology 0.6820351083745242 1.8043807421436189 0.0711716399240922 1.0 0.9136776834674338 7 Q15233,Q7Z392,P11047 3 |
| Abnormality of the pharynx 0.4947869360237829 1.7970872010495464 0.072321777279545 1.0 0.9136776834674338 34 O60934,O60832,O95453,P61011,Q969G3,P21964,Q86Y56,P57076,O15344,P29372,Q8TAQ2 11 |
| Rhinitis 0.7100168692922568 1.796746589487396 0.0723758589980301 1.0 0.9136776834674338 6 P61011,P57076,P51798 3 |
| Sepsis 0.5385226535812399 1.791301488565702 0.0732449273966189 1.0 0.9136776834674338 14 P42892,P61011 2 |
| Smooth philtrum 0.4400339369808826 1.7865948577689843 0.0740029934294586 1.0 0.9152996526055778 50 Q86W42,Q9Y487,Q9H490,Q9BZK7,Q8N3U4,Q9UDR5,P46109,Q9Y4A5,Q9UHX1,P35222,O96019,Q7Z6Z7,O15344,P28482,P55011,P29372,Q9BPU6,Q9NXE4 18 |
| Thin upper lip vermilion 0.3527826385742644 1.7802533671876548 0.0750345050993339 1.0 0.9176605776391134 82 Q5H8A4,Q969G3,P35573,P21281,P46109,Q5KU26,P35222,O15344,P28482,P52732,Q9BZK7,Q8N3U4,P42695,Q9Y4A5,O60341,Q92643,Q13868,Q7Z6Z7,Q9NXE4,Q15233,Q00577,Q9H490,P11166,Q9UHX1,P51812,O14802,P29372,Q8TAQ2,O15294,Q96C86,P31939 31 |
| Progressive external ophthalmoplegia 0.7543166513559842 1.7774888500872406 0.075487843730996 1.0 0.9187434100613354 5 O60313,Q5ST30 2 |
| Dysplastic corpus callosum 0.6208995410767358 1.7751378892251586 0.0758751221840141 1.0 0.9187434100613354 9 Q15233,Q86W42,Q96ST3,Q5JPH6 4 |
| Abnormal breath sound 0.6758222130292784 1.7737383881608102 0.0761064335108017 1.0 0.9187434100613354 7 Q86Y56,O95453,P57076,P15924 4 |
| Stillbirth 0.5935528586300916 1.7701713042536291 0.0766986080976293 1.0 0.9233413702111296 10 Q14739,P04062 2 |
| Abnormal tricuspid valve morphology 0.6724733446368738 1.7571890201695797 0.0788855961454855 1.0 0.937473999927198 7 Q15233,P21964,P53701 3 |
| Abnormal ilium morphology 0.5496725723239905 1.7562052809141395 0.0790533633229388 1.0 0.937473999927198 13 O14802,Q99575,P36776,Q6NW34 4 |
| Congenital ichthyosiform erythroderma 0.7985213596011278 1.7538374107133172 0.0794583707283198 1.0 0.937473999927198 4 P04062 1 |
| Branchial fistula 0.7489279109706013 1.753387480755437 0.0795355184680606 1.0 0.937473999927198 5 P46109 1 |
| Pulmonary artery dilatation 0.6420827697086029 1.7515779395506323 0.0798464086444914 1.0 0.937473999927198 8 P55011,O96019 2 |
| Abnormality of the metaphysis 0.4850291522599776 1.7504977686199783 0.0800324588466363 1.0 0.937473999927198 36 O60832,P51798,O95453,Q99575,P61011,Q6NW34,Q13126,Q9H1A4,Q15022,P36776,Q9Y2U8,Q14739,Q9NUQ7,P07237,P00813,Q06124 16 |
| Thickened skin 0.34430419264914 1.7399464755995258 0.0818684168593617 1.0 0.937473999927198 77 Q14574,P61011,Q9Y2U8,O75844,Q06136,P52732,P15924,Q7Z392,Q9H267,P04066,Q14739,Q14126,Q8WXH0,P04062,O95470,Q9H1A4,Q15738,O14802,O60832,Q15437,Q9UQ13,O75381,Q9BTV4 23 |
| Abnormal circulating monocarboxylic acid cocentration 0.6979121983788404 1.739534610528152 0.0819407697844631 1.0 0.937473999927198 6 P61011 1 |
| Macrodontia 0.5620577870214208 1.7393989006395227 0.0819646214914717 1.0 0.937473999927198 12 Q7Z6Z7,Q00577,P55011,O96019 4 |
| Mild microcephaly 0.6971221530049656 1.7357912349862838 0.0826007544789333 1.0 0.937473999927198 6 Q86W42 1 |
| Azoospermia 0.6134044540807876 1.7344710442777984 0.0828345390930018 1.0 0.937473999927198 9 P51809 1 |
| Deep philtrum 0.511522751555416 1.7287505441742144 0.0838537509436871 1.0 0.937473999927198 15 O60934,P62140,Q00577,P52732,Q9UQ13,P21281,Q96S52,Q15029,Q15022,Q9NXE4 10 |
| Oculomotor apraxia 0.5290122849020443 1.7282107439418692 0.0839504482101713 1.0 0.937473999927198 14 O14773,P28482,P04062,P46109 4 |
| Abnormal pharynx morphology 0.4953805726398166 1.72621743523954 0.0843083025106152 1.0 0.937473999927198 27 O60934,P61011,Q969G3,Q86Y56,P57076,O15344,P29372,Q8TAQ2 8 |
| Sandal gap 0.4920559731541634 1.7243821798891112 0.0846388724051487 1.0 0.938761097488579 16 Q14739,P28482,Q969G3,P46109 4 |
| Receptive language delay 0.6104667631060244 1.718495865914072 0.0857062078648391 1.0 0.9404774359540514 9 Q7Z6Z7,P55011,O96019,Q9BPU6 4 |
| Prominent digit pad 0.5435993818714887 1.7175187831868584 0.0858844254985187 1.0 0.9404774359540514 13 Q7Z6Z7,P55011,O96019,Q9BZK7 4 |
| Abnormality of exocrine pancreas physiology 0.5094091901810452 1.7140401532877243 0.0865213517179284 1.0 0.9405430522570823 15 Q8WX93,P14174,P61011,Q9UHX1 4 |
| Recurrent bacterial infections 0.542825706210072 1.712582940253181 0.0867892940022927 1.0 0.9411146768983109 13 P61011 1 |
| Abnormality of the tarsal bones 0.4905033052324835 1.7043953732540431 0.0883072477236348 1.0 0.942165363751268 17 Q9Y4R8,Q92979,Q9UHX1,Q14739,Q9NXE4 5 |
| Calcinosis 0.737844037994489 1.7036764146221814 0.0884415567544478 1.0 0.942165363751268 5 Q9H1A4,Q14739,P57678 3 |
| Thoracic kyphosis 0.5413374850921113 1.703083830831938 0.0885523813836766 1.0 0.942165363751268 13 Q99575,Q6NW34,P04062 3 |
| Ventricular arrhythmia 0.4931102813878606 1.7018035179626612 0.0887922068178146 1.0 0.942165363751268 21 P0DP25,P15924,Q03001,P00403,P42892,O43772,Q14126,Q9BTV4 8 |
| Elevated pulmonary artery pressure 0.4901335806881072 1.7016751113060564 0.0888162885254688 1.0 0.942165363751268 17 Q9NP81,O75531,P04062,P51798,P25705,P11047,P00403,Q14108,O75844 9 |
| Sleep wake cycle disturbance 0.7359781121750963 1.6952900513777345 0.090020411144585 1.0 0.942165363751268 5 Q05086,Q8N3U4,Q9UBM7,Q9Y4R8 4 |
| Delayed fine motor development 0.6308853135651216 1.6934126224364727 0.090376953924018 1.0 0.942165363751268 8 O60508,P22570 2 |
| Premature ventricular contraction 0.6875816955993108 1.6905001012073 0.0909323189085606 1.0 0.942165363751268 6 O43772,Q9BTV4,P15924 3 |
| Aortic root aneurysm 0.5059234725503203 1.689749428814529 0.0910759024676275 1.0 0.942165363751268 15 P55011,O96019 2 |
| Abnormal muscle fiber type distribution 0.6051629668406782 1.6896040973977675 0.0911037215342203 1.0 0.942165363751268 9 P50570,O75340,Q9Y5P6,P11047,P51114 5 |
| Ventricular tachycardia 0.6288799028643249 1.6829676722756977 0.0923813497734511 1.0 0.942165363751268 8 O43772,Q9BTV4,P0DP25,P15924 4 |
| Delusions 0.5513635068829201 1.6737585143830631 0.0941780686285982 1.0 0.942165363751268 12 Q9NR50,P07602,P04062,P21964,O43681 5 |
| Aplasia hypoplasia involving the nose 0.4895717249171508 1.672641505899542 0.0943978908198319 1.0 0.942165363751268 22 Q00577,O75844,Q08J23,A6NHR9,Q8N3U4,P21281,P46109,Q5KU26,Q96ST3,P35222,P28482,Q16531 12 |
| Short ribs 0.6554227154523247 1.6725885780382452 0.0944083169793583 1.0 0.942165363751268 7 Q15738,Q14739 2 |
| Erlenmeyer flask deformity of the femurs 0.7789488083166295 1.670557727538594 0.0948090680658997 1.0 0.942165363751268 4 P04062,P51798 2 |
| Retinal atrophy 0.4877253519312872 1.670066579132628 0.0949061915941242 1.0 0.942165363751268 19 Q8WWY3,O96019,P55011,P04062 4 |
| Ulnar deviation of the hand or of fingers of the hand 0.5753613444087158 1.6662166646975067 0.0956702679415155 1.0 0.942165363751268 10 Q9H2M9,P46109,Q14739 3 |
| Large face 0.4620275545773395 1.6640394573949666 0.0961045444937442 1.0 0.942165363751268 41 Q15233,Q00577,Q9H490,Q9BZK7,P17612,P46109,P21964,Q92643,O96019,Q7Z6Z7,P28482,Q15738,P55011,Q9BPU6 14 |
| Avascular necrosis 0.4860389733519539 1.663891410744071 0.0961341318050976 1.0 0.942165363751268 18 Q9H3U1,O60832,P04062,P51798,Q14108,Q9NUQ7,Q9Y619,O75844,Q06124 9 |
| Multiple lentigines 0.6816100746343907 1.6620719046431638 0.0964983580636991 1.0 0.942165363751268 6 P28482,Q06124 2 |
| Abnormal nasal base 0.562556841274725 1.6611915638809218 0.0966749793396712 1.0 0.942165363751268 11 Q96ST3,Q969G3,P21281,Q13868 4 |
| Subvalvular aortic stenosis 0.7766820057638961 1.6608833126537836 0.0967368843483258 1.0 0.942165363751268 4 Q15645,Q06124 2 |
| Abnormal left ventricular outflow tract morphology 0.7766820057638961 1.6608833126537836 0.0967368843483258 1.0 0.942165363751268 4 Q15645,Q06124 2 |
| External ophthalmoplegia 0.624606042802025 1.6606804864390985 0.0967776345145392 1.0 0.942165363751268 8 P00403,O60313,Q5ST30 3 |
| Diffuse cerebral atrophy 0.5187849126261094 1.660063607230852 0.0969016571682703 1.0 0.942165363751268 14 Q96T60,Q9H269,P22570 3 |
| Cerebellar hypoplasia 0.3495921876547661 1.6536508188288688 0.098198480794267 1.0 0.942165363751268 87 Q9H9B1,Q5H8A4,Q969G3,P21281,Q8TD16,P22570,Q9Y5P6,Q8N3U4,Q9Y4A5,Q9BPU6,Q15645,Q15233,Q9NXE4,Q9H490,O95453,O60508,Q9H2M9,Q9UN37,P00374,O14802,Q8TAQ2,O60832,O60566,O43505,Q9UBM7,Q99986,Q9UPN3,Q9Y487 28 |
| Gastrointestinal obstruction 0.6230928319466521 1.6527806857007838 0.0983755062891329 1.0 0.942165363751268 8 P42892,P35222 2 |
| Progressive visual loss 0.4841264761059982 1.649701610360529 0.0990039806805407 1.0 0.942165363751268 18 O14773,Q969G3,O75503,P35222 4 |
| Thoracic hypoplasia 0.4861658761579333 1.6493580832177162 0.0990742967547997 1.0 0.942165363751268 21 Q14739,Q6NW34,P61011 3 |
| Infertility 0.597558729417375 1.6480729163198315 0.099337709252695 1.0 0.942165363751268 9 P57076,P51809,Q15645 3 |
| Decreased fertility in males 0.6213644504231364 1.6437520625684725 0.1002274270268148 1.0 0.942165363751268 8 P57076,P51809 2 |
| Aplasia hypoplasia of the cerebellum 0.3579964873369794 1.6354961231921403 0.1019450867273341 1.0 0.942165363751268 96 Q9H9B1,Q5H8A4,Q9H9P8,Q969G3,P21281,Q8TD16,P22570,Q9Y5P6,Q8N3U4,Q9Y4A5,Q9BPU6,Q15645,Q15233,Q9NXE4,Q9H490,O95453,O60508,Q9H2M9,Q9UN37,P00374,P51812,O96028,O14802,Q8TAQ2,O60832,O60566,O43505,Q9UBM7,Q99986,Q9UPN3,Q9Y487 31 |
| Pulmonary insufficiency 0.7693710118505038 1.6296421283871636 0.1031771550875721 1.0 0.942165363751268 4 P15924,O95453,O95235 3 |
| Arthrogryposis multiplex congenita 0.4838196134273498 1.627387209368415 0.1036548863316164 1.0 0.942165363751268 23 Q12756,P04062,Q15392,Q96S52,Q8TD16,O00469,O75844,Q9NXE4 8 |
| Cupped ear 0.5930574943537645 1.6234314002928618 0.1044972168218161 1.0 0.942165363751268 9 Q15392,Q96ST3,P78318,P42892,Q7Z6Z7 5 |
| Ankyloglossia 0.673238729341108 1.6221215300508036 0.104777329066187 1.0 0.942165363751268 6 P28482,P46109,Q9Y4R8 3 |
| Caesarian section 0.7675536116077464 1.6218671237685522 0.1048318022412073 1.0 0.942165363751268 4 O60313 1 |
| Cellulitis 0.767391667734407 1.6211741449273265 0.104980296094101 1.0 0.942165363751268 4 P61011 1 |
| Dystrophic toenail 0.7190515387239366 1.6189941688251797 0.1054485177580888 1.0 0.942165363751268 5 Q12756,Q969G3,P51149 3 |
| Metaphyseal striations 0.7657247037374701 1.6140394075332405 0.106518878812541 1.0 0.942165363751268 4 Q9H1A4,P00813,Q13126 3 |
| Abnormality of epiphysis morphology 0.4691372292890379 1.6139702298662766 0.1065338837745812 1.0 0.942165363751268 36 Q12756,Q9H3U1,Q5JRA6,P51798,P51812,P61011,O96028,Q9UBM7,Q9Y619,P36776,Q9Y2U8,Q14739,Q9NUQ7,Q15738,O75381,Q06124 16 |
| Metaphyseal cupping 0.9273349571804164 1.613910205360075 0.1065469047304579 1.0 0.942165363751268 3 Q6NW34 1 |
| Spastic dysarthria 0.6712969361170156 1.6128389517890551 0.1067795011302883 1.0 0.942165363751268 6 Q9H2M9,P54886,Q8N0X7,O14802 4 |
| Regional abnormality of skin 0.3553360242967791 1.6123546723707314 0.1068847824996717 1.0 0.942165363751268 95 Q9Y4R8,P21281,Q9Y2U8,Q06136,Q9BZK7,P15924,Q96S52,Q7Z392,Q7Z6Z7,Q14739,P55011,Q14126,Q9BPU6,Q9NXE4,O95453,Q9H2M9,Q9H1A4,Q96ST3,Q9UHX1,P51812,O96028,Q06124,Q12756,O60832,Q15437,Q9UQ13,P36776,O96019,O00469,Q9Y487,O75381 31 |
| Abnormal femoral head morphology 0.5411096520552703 1.6105510629537676 0.1072776073579007 1.0 0.942165363751268 12 Q9H3U1,P61011 2 |
| Decreased fertility 0.4945473173494129 1.6102277427075995 0.1073481470067079 1.0 0.942165363751268 15 Q15645,P57076,P51809 3 |
| Skin appendage neoplasm 0.7648131267092175 1.610136575956703 0.1073680437409911 1.0 0.942165363751268 4 Q15437,P35222,Q9UPY3 3 |
| Barrel shaped chest 0.763135686354118 1.6029525654225398 0.1089451270208823 1.0 0.9480646078532076 4 P04066 1 |
| Limb girdle muscle weakness 0.5101347265571505 1.602204251807778 0.1091104501748212 1.0 0.9480646078532076 14 P07602,O60313,Q9Y5P6,A6NHR9,Q8TD16 5 |
| Hypoplasia of the frontal lobes 0.6413053936254205 1.6021381804350698 0.1091250566934012 1.0 0.9480646078532076 7 P22570 1 |
| Abnormal size of the clitoris 0.539483459879476 1.6005041481430264 0.109486787433644 1.0 0.9482575370553882 12 Q9UBM7,P51809,P53701,Q9Y619,P22570,O75381 6 |
| Abnormal rib ossification 0.9227792222565934 1.5962888117481808 0.110424326868892 1.0 0.9482575370553882 3 P61011 1 |
| Increased head circumference 0.3431923598077193 1.5928229210814833 0.1111999216070744 1.0 0.9482575370553882 85 P07602,O75381,Q9H9P8,Q12955,Q99575,Q9UPY3,Q8TD16,P55263,Q16134,O75844,P50570,Q15392,Q8N3U4,O60341,P31150,P78318,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15233,Q14683,P51798,P11166,P51812,O14802,Q9NR50,P62140,Q15437,O43505,P08754,Q9UQ13,O96019,Q92947,Q15022,Q05086 36 |
| Unusual infection by anatomical site 0.6388839397262607 1.590020086994124 0.1118302773337727 1.0 0.9482575370553882 7 Q9H9P8 1 |
| Retinal dysplasia 0.6663469358640988 1.589149944737875 0.1120265441705348 1.0 0.9482575370553882 6 O43505,P53701 2 |
| Aortic regurgitation 0.4774454975626804 1.583306507541648 0.1133516204091977 1.0 0.9513365438848542 21 Q6PGP7,O60566,Q9UQ13,P54886,P46109,Q9UHX1,P28482,O75844,Q15645 9 |
| Hyperconvex nail 0.6635573495803784 1.5757839297900949 0.1150756071628511 1.0 0.9513365438848542 6 P51812,P42892,Q9Y619 3 |
| Capillary hemangioma 0.7565937851416067 1.5749088815378425 0.115277478303442 1.0 0.9513365438848542 4 P21281,Q9UHX1 2 |
| Abnormality of femur morphology 0.4148359811074744 1.572429506983993 0.1158509756273806 1.0 0.9513365438848542 51 Q9H3U1,P07602,Q9Y487,P04062,P28482,P51798,Q99575,P61011,Q6NW34,P46109,P04066,Q9UHX1,O14802,O00469,Q14739,Q9NUQ7,Q9Y619,P55011 18 |
| Metatarsus adductus 0.6076596782425104 1.5719621383488802 0.1159593321713976 1.0 0.9513365438848542 8 Q9H2M9,Q15392,Q9UBM7,O96028,P28482 5 |
| Appendicular hypotonia 0.9622040072859748 1.5718840282114446 0.1159774492924738 1.0 0.9513365438848542 2 P04062 1 |
| Emg impaired neuromuscular transmission 0.7555525709335917 1.5704416491528694 0.1163123994024046 1.0 0.9513365438848542 4 O60313,P11047 2 |
| Axial muscle weakness 0.755194600302101 1.568905576635816 0.1166699422791812 1.0 0.9513365438848542 4 Q8TD16,P11047 2 |
| Underdeveloped nasal alae 0.4720528040611185 1.5681468158850935 0.1168468729524625 1.0 0.9513365438848542 17 Q00577,Q08J23,P21281,P46109,Q5KU26,Q96ST3,P35222,P28482,Q16531 9 |
| Severe short stature 0.4703272784504877 1.5648776299001037 0.1176116048573208 1.0 0.9535486330732688 16 P52732,Q6NW34,Q15392,P53701,Q9Y619 5 |
| Profound global developmental delay 0.5815459534337182 1.5602296632180537 0.1187056181419401 1.0 0.9536099688668176 9 Q9H490,O60313,P37268,P55011,O75381 5 |
| Aplasia hypoplasia involving the pelvis 0.5814066054733047 1.559463067772208 0.1188868192579679 1.0 0.9536099688668176 9 Q15738,Q99575,Q5H8A4 3 |
| Overlapping toe 0.4716488879716283 1.556876051018076 0.1194999164752972 1.0 0.9536099688668176 18 Q86W42,Q9H2M9,Q9UHX1,Q7Z6Z7,P28482 5 |
| Adrenal hyperplasia 0.7519781052648646 1.555098156840768 0.1199226938743682 1.0 0.953651060920242 4 P21281 1 |
| Postural tremor 0.5319454603785498 1.55385783842587 0.1202183305423791 1.0 0.953651060920242 12 O14773,Q14108,O14802 3 |
| Hand polydactyly 0.4699877980651898 1.5528407418145724 0.1204611866425569 1.0 0.953651060920242 17 Q5H8A4,P21964,Q9UHX1,O96028,Q14739 5 |
| Irregular hyperpigmentation 0.412503133860346 1.5478601918283428 0.1216559607511187 1.0 0.9566377479199112 51 P28482,O75844,O60934,Q06136,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15645,O75531,O95453,Q9H1A4,Q96ST3,Q06124,O60832,Q15437,Q6PGP7,O60566,Q9UQ13,O96019 20 |
| Aphasia 0.4718707858943234 1.5402785532725944 0.1234924692121648 1.0 0.960140247538768 27 Q9H9P8,P21964,O96019,Q7Z6Z7,Q15738,P55011 6 |
| Long toe 0.6551652225797802 1.5355075005610368 0.1246592160968702 1.0 0.965474203718874 6 Q15738,O14802,Q9UHX1 3 |
| Bronchiectasis 0.541355416712791 1.534824959164127 0.1248268301740211 1.0 0.965474203718874 11 O60934,O95453,P15924,Q86Y56,P57076 5 |
| Venous insufficiency 0.9046474878680034 1.5260541896743505 0.1269963694890257 1.0 0.9744915086351856 3 P04062 1 |
| Varicose veins 0.9046474878680034 1.5260541896743505 0.1269963694890257 1.0 0.9744915086351856 3 P04062 1 |
| Abnormality of earlobe 0.4680718493879763 1.5229505816164588 0.1277710696149521 1.0 0.9761531017785676 19 Q15392,P46109,P53701,P21964,P28482,O14802 6 |
| Male infertility 0.6242882969640842 1.5167821295823107 0.1293217003520941 1.0 0.9856997309552132 7 P57076,P51809 2 |
| Abnormality of upper lip vermillion 0.3548802842193825 1.5161881940811073 0.1294717724412568 1.0 0.9856997309552132 101 Q86W42,Q9H9B1,Q5H8A4,Q969G3,P35573,P21281,P46109,Q5KU26,P35222,O15344,P28482,P51571,P52732,Q9BZK7,Q8N3U4,P42695,Q9Y4A5,O60341,Q92643,Q13868,Q7Z6Z7,Q9NXE4,Q15233,Q00577,P04062,Q9H490,P11166,Q9UHX1,P51812,O14802,P29372,Q8TAQ2,O15294,Q96C86,P31939,Q96F07 36 |
| Generalized hyperkeratosis 0.6954805400005357 1.5121555852698256 0.1304942869330774 1.0 0.98789958581104 5 P04066,Q15437 2 |
| Relative macrocephaly 0.4685574601726974 1.5099692097779522 0.1310512809752295 1.0 0.98789958581104 23 Q15233,Q99575,Q15392,Q9UQ13,O14802,O96019,Q7Z6Z7,P55011,O75844 9 |
| Broad toe 0.4638923827611375 1.5076049376087333 0.1316556682830105 1.0 0.98789958581104 17 Q14683,Q9UHX1,O96019,Q7Z6Z7,P55011,Q9BPU6 6 |
| Pericardial effusion 0.74086594782452 1.507328535065226 0.1317264668644933 1.0 0.98789958581104 4 Q14108,P04062 2 |
| Abnormal toenail morphology 0.450064273091902 1.506766251196335 0.1318705830140634 1.0 0.98789958581104 39 Q9Y4R8,Q969G3,P21281,P46109,P28482,O75844,P52732,P15924,O60341,Q15056,Q14739,O95453,Q9H2M9,P11172,Q08J23,Q8TAQ2,Q12756,O60832,Q9UQ13,Q15022,P51149 21 |
| Clumsiness 0.4637188359040978 1.5063158599709938 0.1319861086286535 1.0 0.98789958581104 17 P07602,O14802,O14773,O75503,Q05086 5 |
| Dysphasia 0.4796885035932769 1.5058683862807418 0.132100963536343 1.0 0.98789958581104 15 Q15738,P21964,Q9H9P8 3 |
| Large basal ganglia 0.5239067993387481 1.503987447618168 0.1325845988004261 1.0 0.98789958581104 12 Q96C86,P55011,Q9UBB6,P15311 4 |
| Abnormal glycosylation 0.4951011248296428 1.501231130820598 0.1332957906907659 1.0 0.98789958581104 14 Q9Y487,P51571,Q05682 3 |
| Abnormal delivery 0.46387680203342 1.4988681623642632 0.1339078372734969 1.0 0.98789958581104 18 O60313,Q9UBM7,Q9Y487,Q9Y619,O14802,O75844 6 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9439890710382532 1.498696228263214 0.1339524556536131 1.0 0.98789958581104 2 O14773 1 |
| Abnormal rib cage morphology 0.383627910031247 1.498406175148593 0.1340277529974467 1.0 0.98789958581104 56 Q5H8A4,Q99575,P61011,P21281,P28482,O75844,P04066,Q14739,O75531,P51798,Q9UHX1,Q15738,O96028,P07237,O14802,Q06124,P17612,Q9UBM7,Q9Y619 19 |
| Abnormal upper limb bone morphology 0.3227382682207424 1.4937948727414103 0.1352292420811167 1.0 0.988787618893964 66 Q14807,O75844,Q6NW34,Q96S52,Q13868,Q7Z6Z7,Q15056,Q14739,P55011,Q9BPU6,Q15233,O75531,Q14683,Q15427,Q9H2M9,P51798,Q9H1A4,O00116,Q9UHX1,P51812,O96028,O14802,Q06124,Q12756,Q9UBM7,P36776,O96019,Q15022 28 |
| Abnormality of the clitoris 0.4778671840878877 1.4930441787530015 0.135425622920668 1.0 0.988787618893964 15 Q9H2M9,Q9UBM7,P51809,P53701,Q9Y619,P22570,O75381 7 |
| Hypoplasia of penis 0.3273618008832536 1.492910996809092 0.1354604861893662 1.0 0.988787618893964 77 Q86W42,Q8WWY3,P53701,P46977,Q9BZK7,Q9Y5P6,P51809,Q9Y4A5,P42892,Q7Z6Z7,Q9BPU6,Q6P2Q9,Q9H2M9,O95470,A6NHR9,Q96ST3,Q06124,O60566,O43505,Q9UBM7,Q15022,Q96T60,Q9Y619 23 |
| Decreased lacrimation 0.6908130454930373 1.4909288226863535 0.1359801831650002 1.0 0.988787618893964 5 Q03001,P55011 2 |
| Abnormality of the gingiva 0.4548771628978769 1.4909044572230474 0.1359865809966298 1.0 0.988787618893964 36 Q12756,Q6UN15,O60832,Q5JRA6,P04062,P15924,Q9BZK7,O95453,P61011,P21281,Q15392,Q96S52,Q14739,Q14108 14 |
| Dyschromatopsia 0.6901698624889817 1.4880021409933373 0.1367503290082059 1.0 0.989402214844139 5 Q9H061 1 |
| Abnormal lung development 0.4593625610549305 1.4857980898513323 0.137332535563055 1.0 0.9900555850721612 33 Q5H8A4,O96000,O60566,P25705,O96028,Q9UBM7,P21964,Q86Y56,Q92979,P57076,Q9UHX1,Q15738,Q14739,Q16134,O75844,Q15645 16 |
| Abnormal talus morphology 0.5072648755436553 1.4841209268388995 0.1377768423919239 1.0 0.9900555850721612 13 Q92979,Q9UHX1,Q9Y4R8,Q9NXE4 4 |
| Aplasia hypoplasia of the ribs 0.4590362767618164 1.4815105906322268 0.1384705648799338 1.0 0.9900555850721612 16 P21281,Q15738,Q14739,Q9Y619,Q06124 5 |
| Chorioretinal dysplasia 0.7344827031308168 1.4798441634954795 0.1389148396454667 1.0 0.9900555850721612 4 O43505,P53701 2 |
| Aplasia cutis congenita 0.5896464612766855 1.477114318140199 0.1396449960930745 1.0 0.9900555850721612 8 Q5H8A4,P21281,P15924 3 |
| Retinal degeneration 0.4413119408940582 1.4748187930373104 0.1402612673192229 1.0 0.9900555850721612 41 Q8WWY3,O60313,P04062,O75503,P35222,O96019,O14773,O95319,P55011 9 |
| Bronchitis 0.7329581986116576 1.4732758412239888 0.1406766721912049 1.0 0.9900555850721612 4 O60934,P57076 2 |
| Thoracolumbar kyphoscoliosis 0.93761384335155 1.473071107368064 0.1407318631681398 1.0 0.9900555850721612 2 Q6NW34 1 |
| Atrial arrhythmia 0.6420326713206693 1.4722959528976196 0.1409409757158577 1.0 0.9900555850721612 6 Q9BTV4,O95235 2 |
| Metaphyseal sclerosis 0.7324506365207533 1.4710886660803926 0.1412671397451994 1.0 0.9900555850721612 4 P61011 1 |
| Weak cry 0.6861892859084915 1.4698809351428808 0.1415940038697916 1.0 0.9900555850721612 5 P11047 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.6142869295958812 1.4664218628863377 0.1425333938020663 1.0 0.9900555850721612 7 O43505 1 |
| Scapular winging 0.4599068384288508 1.4615776407130896 0.1438569852275888 1.0 0.9915694407642952 19 O60313,Q9Y5P6,P11047,Q8TD16,Q9Y487,Q9BTV4,Q06124 7 |
| Deviation of the hand or of fingers of the hand 0.322697708593318 1.4581012181174553 0.1448126456959764 1.0 0.9965846640809716 75 Q9Y4R8,P21281,P46109,Q92979,Q8TD16,Q9Y2U8,P28482,P15924,Q8N3U4,Q96S52,Q9Y4A5,O60341,Q14739,Q9BPU6,Q15645,Q15233,Q9H2M9,Q96ST3,Q9UHX1,Q06124,Q5JRA6,O15294,O60566,P36776,Q9Y619,Q05086 26 |
| Abnormal saccadic eye movements 0.4601615977990793 1.451883691753651 0.1465339478342362 1.0 0.9974147597352327 21 Q12756,P04062,O15020,O14773,Q96T60 5 |
| Lymphedema 0.5017115444488839 1.448211348032971 0.1475579518376597 1.0 0.9974147597352327 13 P52732,P35222,Q14739,P28482,Q06124 5 |
| Aplasia hypoplasia of the optic nerve 0.4707528312931724 1.4428955839004547 0.1490498873660213 1.0 0.9974147597352327 15 Q9Y5P6,P37268,Q8N3U4,O14802 4 |
| Productive cough 0.5828262136277486 1.4410774447430037 0.1495628048890045 1.0 0.9974147597352327 8 Q6UN15,P57076,Q9BZK7 3 |
| Enlarged thorax 0.4998398500993012 1.4360979268889251 0.150974477933476 1.0 0.9974147597352327 13 Q99575,P17612,P04066,Q14739,P28482,Q06124 6 |
| Aplasia hypoplasia of the earlobes 0.8809468302087917 1.434070078549753 0.1515522655524472 1.0 0.9974147597352327 3 P21964 1 |
| Hyperthyroidism 0.8809468302087917 1.434070078549753 0.1515522655524472 1.0 0.9974147597352327 3 P21964 1 |
| Muscular dystrophy 0.4575329169823396 1.431851898435896 0.1521862108290341 1.0 1.0 21 Q8WXH0,Q9Y5P6,O43505,A6NHR9,Q7Z392,Q96T60,Q9BTV4,Q15645 8 |
| Widow s peak 0.8788154897494322 1.425792235030118 0.15392832296203 1.0 1.0 3 O15344,P29372 2 |
| Broad thumb 0.4537475618209196 1.4231028188029151 0.1547063513501891 1.0 1.0 18 Q9UHX1,O96019,Q13868,Q7Z6Z7,P55011,Q9BPU6 6 |
| Bruising susceptibility 0.4571913904099596 1.422240893262025 0.1549563311119264 1.0 1.0 23 P04062,P28482,Q9BZK7,P51798,P17612,Q13126,Q14108,Q06124 8 |
| Genu varum 0.6053955421828372 1.4215472216200462 0.1551577357527285 1.0 1.0 7 Q9H1A4,Q9NUQ7,Q9Y619 3 |
| Aplasia hypoplasia involving the sinuses 0.7205467161207857 1.4197476164174454 0.1556811702134815 1.0 1.0 4 P04066 1 |
| Long fingers 0.3491063564178128 1.4185600265432612 0.1560273267668126 1.0 1.0 61 Q06136,Q12756,P42892,Q5H8A4,Q9Y4R8,Q9P2J5,P51812,Q969G3,P46109,P21964,O60341,Q96ST3,Q9UHX1,Q7Z6Z7,P28482,Q15738,O14802,Q9BPU6 18 |
| Abnormal erythrocyte sedimentation rate 0.6745967841572607 1.4170324393920464 0.1564734433926236 1.0 1.0 5 O15143 1 |
| Progressive hearing impairment 0.5530501839823811 1.402815094959471 0.1606719845057536 1.0 1.0 9 Q9UM54,P00403,O60313,O60610 4 |
| Anencephaly 0.5754551776758627 1.4020648675679346 0.1608958770153479 1.0 1.0 8 O43505,P21964 2 |
| Abnormality of the antitragus 0.9184881602914408 1.396207767236121 0.162651938407536 1.0 1.0 2 Q9H2M9 1 |
| Prominent antitragus 0.9184881602914408 1.396207767236121 0.162651938407536 1.0 1.0 2 Q9H2M9 1 |
| Submucous cleft of soft and hard palate 0.4501346893394853 1.3960456692971346 0.1627007430019311 1.0 1.0 18 O43505,A6NHR9,Q8N3U4,Q15392,Q13618,Q9Y619 6 |
| Wide cranial sutures 0.6262179496034838 1.3959198133638864 0.1627386434375832 1.0 1.0 6 P54886,O14802,O75531 3 |
| Posteriorly rotated ears 0.3261363115932768 1.3932393082970125 0.1635474367248242 1.0 1.0 82 Q15555,Q5H8A4,P28482,Q9BZK7,Q15392,Q96S52,Q9Y4A5,Q13868,Q7Z6Z7,P42892,Q15056,Q15645,Q9NXE4,P04062,Q9H490,Q14683,Q15427,Q9H2M9,P11172,Q9UHX1,Q15738,O96028,O14802,Q08J23,Q06124,P62140,O60566,O43505,P37268,P08754,Q9UQ13,Q9UBM7,P62857,Q15022,Q9Y619,P22681,O75381 37 |
| Truncus arteriosus 0.5997632990548905 1.393077566149535 0.1635963362075245 1.0 1.0 7 P21964,P28482,P46109 3 |
| Tooth malposition 0.3159139747418961 1.392388739679192 0.1638047124347057 1.0 1.0 73 Q86W42,P21281,P51571,P28482,O75844,Q9BZK7,Q96S52,O60341,Q92643,Q14739,Q15233,O75531,P51798,Q9H2M9,A6NHR9,Q96ST3,P51812,Q15738,Q06124,P08754,P17612,Q05086 22 |
| Primary gonadal insufficiency 0.624776260930752 1.3889456400172289 0.1648492806640993 1.0 1.0 6 Q9NR50,Q13144,P51809 3 |
| Abnormal biliary tract morphology 0.449922486605775 1.3863968362020582 0.1656257619963206 1.0 1.0 19 P04062,P48506,P14174,P36776,Q14739,Q14108 6 |
| Papillary thyroid carcinoma 0.5268697908987715 1.3857152745023262 0.1658338622085253 1.0 1.0 10 Q969G3,Q15437,Q9UPY3 3 |
| Aplastic anemia 0.5982360445764165 1.3853524157307169 0.1659447335378945 1.0 1.0 7 Q9H1A4,P61011 2 |
| Aplasia hypoplasia of the patella 0.7125633048424946 1.3852748399253867 0.165968444021948 1.0 1.0 4 Q9H1A4 1 |
| High forehead 0.3119412026332986 1.3850734143177252 0.1660300202007603 1.0 1.0 70 Q86W42,Q5H8A4,P21281,P28482,Q9BZK7,Q13868,P78318,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15645,Q00577,Q9H490,Q96ST3,O96028,Q06124,O60566,O96019,O95319,O75381 21 |
| Aplasia hypoplasia affecting the eye 0.3344290181576986 1.385008937104998 0.1660497346333964 1.0 1.0 63 P11047,P53701,P35222,P52732,Q9BZK7,Q9Y5P6,Q8N3U4,Q16851,P21964,Q15645,Q9H2M9,A6NHR9,P11166,Q96ST3,Q9UHX1,O96028,O14802,O60566,O43505,P37268 20 |
| Generalized clonic seizure 0.7113123216995578 1.3798706739644904 0.1676264674265808 1.0 1.0 4 Q96T60 1 |
| Meningocele 0.6222092073214955 1.3765233469838414 0.168659664219831 1.0 1.0 6 Q9Y5P6,P21964 2 |
| Abnormal blistering of the skin 0.4458600990287231 1.3734081948676486 0.1696254835957722 1.0 1.0 17 Q06136,O60832,Q14574,P15924,P51798,Q9H1A4 6 |
| Abnormal platelet volume 0.569961416549 1.372949414445953 0.1697680731640876 1.0 1.0 8 Q14739 1 |
| Abnormal hypothalamus morphology 0.8648702062202756 1.3716226941278948 0.1701809252792925 1.0 1.0 3 Q9H269 1 |
| Aplasia hypoplasia of toe 0.4502864672793326 1.3661487033934727 0.1718922942676364 1.0 1.0 25 Q5JRA6,Q5H8A4,Q9BZK7,Q9H2M9,Q9UBM7,Q9UHX1,O96019,Q7Z6Z7,O96028,P55011,Q9BPU6 11 |
| Tics 0.663392278569974 1.365865184033598 0.1719812822716919 1.0 1.0 5 P28482,P46109 2 |
| Abnormal middle phalanx morphology of the hand 0.6199532040137279 1.3656020939374682 0.1720638889896037 1.0 1.0 6 Q15233,Q6NW34 2 |
| Limited hip movement 0.522945614640317 1.3628581383976843 0.1729272239913859 1.0 1.0 10 Q03001,Q8TD16,Q9Y4R8 3 |
| Depressed nasal ridge 0.4417164270043794 1.3532188389593975 0.1759857285224226 1.0 1.0 16 Q06124,Q6PGP7,O60566,Q8N3U4,Q9UDR5,Q15645 6 |
| Slender long bone 0.5108847820479571 1.3518170394380618 0.1764338518099508 1.0 1.0 11 P37268,Q9H2M9,Q9Y619,Q9Y487 4 |
| Thin vermilion border 0.3471082450041702 1.346846139673831 0.1780297911420558 1.0 1.0 105 Q86W42,Q5H8A4,Q969G3,P35573,P21281,P46109,P35222,Q9Y2U8,O15344,P28482,O75844,P52732,Q9BZK7,Q8N3U4,P42695,Q9Y4A5,O60341,Q92643,Q13868,Q7Z6Z7,P55011,Q9BPU6,Q9NXE4,Q15233,Q00577,Q9H490,P11166,Q96ST3,Q9UHX1,P51812,O14802,P29372,O15294,Q96C86,Q9UQ13,O96019 36 |
| Embryonal renal neoplasm 0.5185544837798917 1.3372639810994862 0.1811364838026423 1.0 1.0 10 Q15645,P51809,Q9UPY3,O60566 4 |
| Sporadic 0.4420652751309327 1.335575129309009 0.1816881837308193 1.0 1.0 18 Q05086,P04062,Q96ST3,P51812,O96028,P54886,P62263,Q9BWD1 8 |
| Sloping forehead 0.4413264102732394 1.334452717414195 0.1820555328693696 1.0 1.0 33 O60934,P52732,Q15021,Q8N3U4,Q16851,P42695,Q9H267,Q92979,Q96T60,Q9NXE4,Q15645 11 |
| Cerebral hypoplasia 0.5069270922171291 1.3279674381483306 0.1841888641618729 1.0 1.0 11 Q92947,P22570,P42695,O60566 4 |
| Absent hair 0.5066178204101803 1.3261032526206056 0.184805498914726 1.0 1.0 11 Q9H1A4,P62304,O75844 3 |
| Calvarial skull defect 0.6110533440027588 1.3224848607280448 0.1860067473549551 1.0 1.0 6 Q14739,Q5H8A4 2 |
| Posterior pharyngeal cleft 0.8998178506375238 1.3212600380859518 0.1864146737028944 1.0 1.0 2 O15344 1 |
| Transposition of the great arteries 0.6534552458776228 1.320434114632128 0.1866901198861064 1.0 1.0 5 P57076,O75844 2 |
| Advanced eruption of teeth 0.5156669839424262 1.320425511419818 0.1866929906462691 1.0 1.0 10 P15924,Q9UBM7,P51812,O14802,O75844 5 |
| External genital hypoplasia 0.327628187623867 1.3199396512120465 0.1868551676857546 1.0 1.0 88 Q86W42,Q8WWY3,P53701,P51114,P46977,O75844,Q9BZK7,Q9Y5P6,P51809,Q9Y4A5,P42892,Q7Z6Z7,Q9BPU6,Q6P2Q9,Q9H2M9,O95470,A6NHR9,Q96ST3,Q06124,O60832,O15294,O60566,O43505,Q9UBM7,Q15022,Q96T60,Q9Y619 27 |
| Hemivertebrae 0.5377111402336694 1.317662721947033 0.1876165788622916 1.0 1.0 9 Q8N3U4,P21281,Q9Y619 3 |
| Osteolysis involving bones of the upper limbs 0.6100560709106956 1.317650500053272 0.187620672066503 1.0 1.0 6 Q12756,O75531 2 |
| Parietal bossing 0.8989071038251368 1.3176078583032227 0.1876349536257504 1.0 1.0 2 O14802 1 |
| Immunodeficiency 0.4125793203032914 1.316637746493975 0.187960079941281 1.0 1.0 45 O60832,Q7L590,Q15437,Q6PGP7,O95453,P48506,O60566,P61011,P35573,P46109,P21964,P14174,O96028,P28482,P02786 15 |
| Peripheral edema 0.8984517304189437 1.3157819331992122 0.1882472448763117 1.0 1.0 2 O95235 1 |
| Right ventricular cardiomyopathy 0.6961375995699851 1.3142824422409505 0.1887511736099929 1.0 1.0 4 Q9BTV4,P15924 2 |
| Recurrent skin infections 0.5145328560227898 1.3138102735751829 0.1889100594573494 1.0 1.0 10 P61011,O14802 2 |
| Dysdiadochokinesis 0.5145175374442095 1.3137209165065429 0.188940139411611 1.0 1.0 10 O15020 1 |
| Abnormality of the auditory canal 0.4372954127106461 1.3095601348392496 0.1903446820002985 1.0 1.0 17 Q14683,Q15427,P08754,A6NHR9,P21281,O96028,Q9Y619,P55011 8 |
| Abnormal clavicle morphology 0.4517982813637122 1.308990959040854 0.1905374132586481 1.0 1.0 15 Q15738,Q14739,O75531 3 |
| Hand clenching 0.6948877682152712 1.308878625241994 0.1905754680990763 1.0 1.0 4 Q03001 1 |
| Male reproductive system neoplasm 0.5037394430306533 1.308750592352476 0.1906188480766322 1.0 1.0 11 Q92878,Q9UPY3,P51809 3 |
| Periodontitis 0.557798278121858 1.3083940240189034 0.1907396985239733 1.0 1.0 8 P61011,O60832,Q5JRA6 3 |
| Abnormality of pulmonary circulation 0.4403999435366611 1.307305970955755 0.191108817149932 1.0 1.0 20 Q9NP81,O75531,P04062,P51798,P25705,P11047,P00403,O95235,Q14108,O75844 10 |
| Abnormal vertebral morphology 0.3187523768315028 1.3020149878070264 0.1929112621239999 1.0 1.0 81 Q5H8A4,Q14807,Q99575,P61011,P21281,Q9NUQ7,Q6NW34,Q8N3U4,O60341,P04066,Q14739,Q14108,P04062,P51798,Q9UHX1,Q15738,O96028,P51812,P07237,O14802,Q5JRA6,Q9UBM7,P36776,O00469,Q9Y619,P00813 26 |
| Absent thumbnail 0.8465887275605828 1.3006302542525117 0.1933850460860151 1.0 1.0 3 Q96T60 1 |
| Plantar hyperkeratosis 0.441784082626467 1.2994746205720042 0.1937810977349634 1.0 1.0 25 Q06136,O60832,Q15437,P15924,Q7Z392,Q9H1A4,Q9Y2U8,Q14126 8 |
| Ulnar deviation of finger 0.6057217756606763 1.2966342263274433 0.1947570702005401 1.0 1.0 6 Q9H2M9,P46109 2 |
| Holoprosencephaly 0.5336114456754523 1.2948733039272864 0.1953639391487258 1.0 1.0 9 O60566,Q9Y5P6,Q8N3U4,Q9UBM7,Q15645 5 |
| Melanoma 0.4644972143369609 1.2945877171287663 0.1954624918169378 1.0 1.0 14 Q92878,Q15437,Q9H1A4,Q8WX93,Q9NYB0,Q06124 6 |
| Cardiac arrest 0.4376119923137789 1.2936042081623198 0.1958021681657329 1.0 1.0 19 P04062,P0DP25,P15924,Q9H2M9,O43772,Q14126,Q9BTV4 7 |
| Supernumerary spleens 0.6050942643388441 1.2935908713935402 0.1958067772820051 1.0 1.0 6 Q86Y56,P57076,O96028 3 |
| Falls 0.5796439981743454 1.2911687304472672 0.1966451754704783 1.0 1.0 7 Q8WVX9,Q01082,P21912,Q14204,Q9BQT8,P54886 6 |
| Abnormality of the female genitalia 0.3308442738440411 1.289699905082515 0.1971548725724972 1.0 1.0 93 Q86W42,P43246,Q9UPY3,P53701,P35222,P22570,Q16531,O75844,O60934,Q15392,P51809,P21964,P52701,Q15056,Q15645,Q92878,Q14683,Q15427,Q9H2M9,A6NHR9,O95453,Q9H1A4,Q8WX93,P51812,O96028,Q08J23,Q06124,Q9NR50,O60832,Q13144,Q15437,O60566,Q5JTZ9,Q9UBM7,P36776,P31939,Q9Y619,O75381 38 |
| Talipes valgus 0.6904424610485569 1.2896581208955038 0.1971693862377366 1.0 1.0 4 Q9H2M9 1 |
| Biliary tract abnormality 0.438849951967135 1.2893349485616 0.1972816660092071 1.0 1.0 21 P07602,Q9NSD9,P04062,P48506,O96028,P14174,P36776,Q14739,Q14108 9 |
| Abnormal form of the vertebral bodies 0.3331221830389231 1.288553802807244 0.1975532527620787 1.0 1.0 62 Q5H8A4,Q99575,P61011,P21281,Q9NUQ7,Q6NW34,Q8N3U4,P04066,Q14739,P51798,Q9UHX1,P51812,O96028,P07237,O14802,Q5JRA6,Q9UBM7,P36776,O00469,Q9Y619,P00813 21 |
| Progressive sensorineural hearing impairment 0.553346287656675 1.2847407237657027 0.1988829023828953 1.0 1.0 8 Q9UM54,O60313 2 |
| Abnormality of neutrophil morphology 0.6890644449755203 1.283699878238903 0.1992469870542763 1.0 1.0 4 Q14739 1 |
| Excessive wrinkling of palmar skin 0.8417873051907905 1.2819979090141649 0.1998433797350656 1.0 1.0 3 Q9Y487 1 |
| Pulmonary cyst 0.6883007235615786 1.2803977449580406 0.2004052866575962 1.0 1.0 4 P15924 1 |
| Hypometric saccades 0.8409383646072468 1.2787043570334051 0.2010011848103285 1.0 1.0 3 O15020 1 |
| Desquamation of skin soon after birth 0.6878503161198818 1.2784503155612963 0.2010906926464901 1.0 1.0 4 P50747,P04062 2 |
| Hyperlordosis 0.4265585326557288 1.2779482416814192 0.2012676766293233 1.0 1.0 38 Q12756,Q9Y5P6,Q9H2M9,Q99575,Q7Z392,P46109,P04066,Q8TD16,Q15738,P28482,Q9BTV4 11 |
| Macular atrophy 0.6018637307784924 1.277920959554012 0.2012772969927261 1.0 1.0 6 P04062 1 |
| Abnormality of corneal stroma 0.5766304998413024 1.2758847381463536 0.2019962668485684 1.0 1.0 7 O43505,P54886,P04062 3 |
| Abnormality of the shoulder girdle musculature 0.438509143885874 1.2751947481719206 0.2022403197251903 1.0 1.0 24 P07602,O60313,Q9Y5P6,A6NHR9,P11047,Q8TD16,Q9Y487,Q9BTV4,Q06124 9 |
| Angiofibromas 0.6870261551524711 1.2748869227557424 0.20234926839754 1.0 1.0 4 Q15437,P43246 2 |
| Adenoma sebaceum 0.6870261551524711 1.2748869227557424 0.20234926839754 1.0 1.0 4 Q15437,P43246 2 |
| Abnormality of limb epiphysis morphology 0.4325535805733074 1.2742070461067732 0.2025900487301188 1.0 1.0 17 Q9H3U1,Q5JRA6,P61011,P51812,O96028,Q9NUQ7 6 |
| Osteomyelitis 0.4865179573701247 1.2708578663370804 0.2037792180130009 1.0 1.0 12 Q13126,P61011,P51149,P51798 4 |
| Macule 0.3977420734307006 1.2708303242681755 0.2037890181944841 1.0 1.0 48 P28482,O75844,O60934,Q06136,Q7Z6Z7,P55011,Q9BPU6,Q15645,Q15233,O95453,Q9H1A4,Q96ST3,Q06124,O60832,Q15437,Q6PGP7,O60566,Q9UQ13,O96019 19 |
| Abnormal parietal bone morphology 0.8388228778848361 1.27049832633474 0.2039071786485105 1.0 1.0 3 O14802 1 |
| Diplopia 0.4741800889558345 1.269683291056673 0.2041974669962196 1.0 1.0 13 O14773,O15020 2 |
| Abnormality of subcutaneous fat tissue 0.4971704168332403 1.269134318645722 0.2043931620275936 1.0 1.0 11 Q9Y487,O14802,P17612,Q9BZK7 4 |
| Perimembranous ventricular septal defect 0.5996993677638031 1.2674208048524216 0.2050048645721478 1.0 1.0 6 Q86W42,P0DP25 2 |
| Slurred speech 0.5748751108279087 1.2669802375943595 0.2051623563403011 1.0 1.0 7 O15020 1 |
| Amblyopia 0.4599326975563345 1.263713710912158 0.2063328021096335 1.0 1.0 14 A6NHR9,P52732,O15294,P53701 4 |
| Abnormal 5th finger morphology 0.303474820990846 1.2607968256676416 0.2073820577789118 1.0 1.0 70 Q9Y4R8,Q969G3,P21281,P46109,Q92979,Q9Y2U8,P28482,P15924,Q8N3U4,Q96S52,Q9Y4A5,O60341,Q14739,Q15645,Q15233,Q9UHX1,Q06124,Q8TAQ2,Q5JRA6,O15294,O60566,Q9Y619,Q05086 23 |
| Abnormal pericardium morphology 0.5731206853791815 1.2580797622317952 0.2083629115392673 1.0 1.0 7 Q14108,P14174,P04062 3 |
| Eeg with spike wave complexes 0.5048108984126249 1.2570771670644847 0.2087256942126276 1.0 1.0 10 O75503,Q14108,Q96T60,Q9UDR5 4 |
| Abnormal lower limb bone morphology 0.3495330072790124 1.2564751386409465 0.2089437541934411 1.0 1.0 114 P07602,Q5H8A4,Q9Y4R8,Q99575,P61011,P21281,P46109,Q92979,P28482,Q9NUQ7,O75844,Q9BZK7,Q6NW34,Q15392,Q96S52,Q9Y4A5,P21964,P04066,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q9NXE4,P04062,P51798,Q9H2M9,Q9H1A4,Q9UHX1,P51812,O14802,Q9H3U1,Q12756,Q5JRA6,O43505,O96019,O00469,Q9Y487,Q96T60,Q9Y619 39 |
| Short middle phalanx of finger 0.6814038286235354 1.2505800109192764 0.2110877472060144 1.0 1.0 4 Q6NW34,Q9UHX1,Q03164 3 |
| Proportionate short stature 0.4354684330267565 1.249664526781955 0.2114221207825806 1.0 1.0 26 P52732,Q6NW34,Q15392,P53701,P35222,Q14739,P54886,Q9Y619 8 |
| Hypertriglyceridemia 0.4316509345543965 1.2486779630071945 0.2117828841463676 1.0 1.0 19 Q7L590,O95470,P35573,O14802,Q9BTV4 5 |
| Hypopigmentation of the skin 0.432135122769622 1.24822132045433 0.2119500182194342 1.0 1.0 32 P07602,O60832,Q15437,P51798,O95453,Q96C86,P53701,Q9H1A4,P21964,P35222,Q9Y2U8,Q05086 12 |
| Abnormality of the nasal tip 0.3026139299014596 1.248183383539732 0.2119639076579127 1.0 1.0 70 Q969G3,P35573,P21281,P35222,O75844,P52732,Q9BZK7,Q8N3U4,Q9Y4A5,P21964,O60341,Q13868,Q7Z6Z7,P42892,Q9NXE4,Q00577,Q9H2M9,Q9UHX1,P51812,P17612,Q9Y487 21 |
| Premature skin wrinkling 0.4287826148187756 1.2460989315021058 0.2127280770656847 1.0 1.0 17 O60832,O95453,Q9BZK7,Q9Y487,P54886,O14802,O75844,Q06124 8 |
| Glucose intolerance 0.3043689551528682 1.2401861439174695 0.2149065521949444 1.0 1.0 72 Q8WWY3,P61011,P35222,Q9Y2U8,O75844,Q06136,Q9NP81,O60313,P19404,P00403,Q9NXE4,Q13217,Q6P2Q9,Q9Y6M1,Q8WX93,P28331,O14802,O60832,Q5JRA6,P17612 20 |
| Narrow face 0.4323649517345329 1.2398744408995286 0.2150218388818072 1.0 1.0 21 Q08J23,Q9BZI7,Q96ST3,O96019,Q7Z6Z7,Q15056,Q15738,P55011,Q9BPU6 9 |
| Respiratory failure requiring assisted ventilation 0.678646970404388 1.238663421254684 0.2154701703771502 1.0 1.0 4 Q92734,P10253 2 |
| Branchial anomaly 0.5446666114417038 1.2386032661218267 0.2154924579475179 1.0 1.0 8 P28482,P46109 2 |
| Small nail 0.426906377284991 1.2355803786002684 0.2166145818919109 1.0 1.0 35 P62140,Q9Y4R8,P51812,Q99575,Q969G3,P21281,Q6NW34,Q8TAQ2,Q9Y4A5,Q9UQ13,O60341,Q7Z6Z7,Q15056,Q15022,O14802,Q08J23,Q14739 17 |
| Gingival fibromatosis 0.8784153005464498 1.2355743036694071 0.2166168411886166 1.0 1.0 2 Q15392 1 |
| Severe hearing impairment 0.878415300546449 1.2355743036694036 0.216616841188618 1.0 1.0 2 Q06124 1 |
| Abnormal oral mucosa morphology 0.4039527553738617 1.2335749368479942 0.2173613370612455 1.0 1.0 45 Q12756,Q6UN15,O60832,Q5JRA6,P04062,P15924,Q9BZK7,O95453,P61011,P21281,Q15392,Q96S52,Q14739,Q14108,Q92990 15 |
| Impaired vibratory sensation 0.4255067610134577 1.2329962202237796 0.2175771743714745 1.0 1.0 16 O14773,Q9Y619,O14802,O15020 4 |
| Mandibular aplasia 0.8770491803278695 1.2301169233929592 0.2186533235990271 1.0 1.0 2 Q9Y619 1 |
| Epispadias 0.8770491803278695 1.2301169233929592 0.2186533235990271 1.0 1.0 2 Q9Y619 1 |
| Abnormal epiphyseal ossification 0.5219018456487061 1.2297452344382074 0.218792522072615 1.0 1.0 9 Q14807,Q9UBM7,Q15738,Q14739,O75381 5 |
| Corneal opacity 0.4190131046079769 1.2292432916143567 0.2189806019585596 1.0 1.0 39 Q06136,O75381,P52732,Q5H8A4,P04062,O60566,O43505,Q9UBM7,P53701,Q03001,P04066,O96028,P54886,O14802,O75844,Q15645 16 |
| Abnormality of dental morphology 0.4140711687983346 1.2255120645491449 0.2203823472686727 1.0 1.0 41 O60832,Q00577,P51798,O95453,P51812,P21281,P17612,Q9Y619,Q9H1A4,P36776,O96019,Q7Z6Z7,Q9Y487,P28482,P07237,P55011,Q9BPU6 17 |
| Abnormal chorioretinal morphology 0.4259554275608263 1.2250329423325736 0.2205628088686424 1.0 1.0 17 P52732,O43505,P53701,P35222,Q9Y619 5 |
| Abnormality of the tonsils 0.6753804880832657 1.224546566101275 0.2207461110662953 1.0 1.0 4 P21964 1 |
| Aplastic hypoplastic toenail 0.430567447001258 1.2216221701079628 0.2218505407735063 1.0 1.0 30 O60832,Q9Y4R8,P15924,O95453,Q8TAQ2,Q969G3,P21281,Q9UQ13,P46109,O60341,Q15022,Q15056,P28482,Q08J23,Q14739 15 |
| Epidermal acanthosis 0.5656114775711925 1.219978562537981 0.2224730016504454 1.0 1.0 7 Q06136 1 |
| Dermal atrophy 0.4284729061730967 1.2169033017559578 0.2236410092496705 1.0 1.0 20 O60832,Q15392,P17612,P53701,Q9H1A4,Q03001,Q9Y2U8,O75844 8 |
| Laryngomalacia 0.5187527244295091 1.2122266453928945 0.2254256344923422 1.0 1.0 9 P21964,O14802 2 |
| Disproportionate tall stature 0.4265820598348203 1.2105005163076252 0.2260868927694157 1.0 1.0 19 Q5H8A4,Q14669,Q9BZI7,O96019,Q7Z6Z7,O96028,P55011,Q9BPU6 8 |
| Severe intrauterine growth retardation 0.8224612042782693 1.2071049715414175 0.2273917205217646 1.0 1.0 3 Q92979 1 |
| Abnormality of the pulmonary vasculature 0.4284387191719127 1.1997627033070877 0.2302315129825864 1.0 1.0 29 P22681,P62140,Q6PGP7,Q14683,P51798,Q14669,Q15392,Q9UDR5,Q86Y56,P57076,O96019,Q7Z6Z7,Q15056,P55011,Q9BPU6,Q06124 16 |
| Patellar aplasia 0.8199856167328383 1.1975273971299398 0.2311010555160533 1.0 1.0 3 Q9H1A4 1 |
| Hypoplastic ilia 0.5852719511631574 1.197412860182611 0.231145673577763 1.0 1.0 6 Q99575 1 |
| Abnormality of globe size 0.4191081433009416 1.1961091130719128 0.2316539818194689 1.0 1.0 37 P52732,Q9BZK7,Q9Y5P6,Q9H2M9,A6NHR9,P11166,O43505,P53701,P21964,Q96ST3,Q9UHX1,P35222,Q15645 13 |
| Dental crowding 0.4255603668938742 1.1948513833143848 0.2321451004746182 1.0 1.0 20 Q15233,O75531,P08754,Q9UBM7,Q92643,P51812,Q15738,O75844 8 |
| Bicornuate uterus 0.6683134711197856 1.1940180273830123 0.2324709163317977 1.0 1.0 4 Q15427,Q9UBM7 2 |
| Retinal fold 0.8679417122040097 1.1937802210798936 0.2325639505700647 1.0 1.0 2 P35222 1 |
| Abnormal labia majora morphology 0.5150943935816884 1.191876807152369 0.233309553457454 1.0 1.0 9 Q9H2M9,Q9Y619 2 |
| Hypoplastic labia majora 0.5150943935816884 1.191876807152369 0.233309553457454 1.0 1.0 9 Q9H2M9,Q9Y619 2 |
| Corpus callosum atrophy 0.4729130714223696 1.1858556765528454 0.2356792996324204 1.0 1.0 12 O75503,Q9H9P8 2 |
| Type ii lissencephaly 0.8656648451730451 1.1847095721955123 0.2361322964838934 1.0 1.0 2 O43505 1 |
| Poor gross motor coordination 0.865664845173045 1.1847095721955123 0.2361322964838934 1.0 1.0 2 O75503 1 |
| Abnormality of the plantar skin of foot 0.4244531580526327 1.1845078516855776 0.2362120900497606 1.0 1.0 32 Q06136,O60832,Q15437,P15924,Q9BZK7,P21281,Q7Z392,Q9H1A4,Q9Y2U8,Q9Y487,Q14126 11 |
| Abnormal heart rate variability 0.6649417236875363 1.1794607715147676 0.2382147484627754 1.0 1.0 4 P07602,Q8N3U4 2 |
| Median cleft palate 0.8642987249544669 1.1792699911452105 0.2382906836491374 1.0 1.0 2 Q14739 1 |
| Generalized osteosclerosis 0.8150341685649225 1.1783848273556037 0.2386432237335953 1.0 1.0 3 Q15392,P51798 2 |
| Hyperkeratosis 0.4037214810134702 1.1769719495864852 0.2392067023363 1.0 1.0 43 Q06136,O60832,Q15437,Q14574,P04062,P15924,Q9UQ13,Q7Z392,Q9H1A4,P04066,Q9Y2U8,Q15738,Q14126,O75844 14 |
| Short palpebral fissure 0.4238385729698615 1.17492466842919 0.2400248553918864 1.0 1.0 21 Q86W42,Q9UHX1,Q13868,Q7Z6Z7,Q9Y619,Q9NXE4 6 |
| Neck muscle weakness 0.4907205774681606 1.1748337719301312 0.2400612259477594 1.0 1.0 10 Q9Y5P6,P11047,Q9BTV4 3 |
| Preaxial hand polydactyly 0.5802524847335389 1.1730602933962249 0.2407716279779599 1.0 1.0 6 O96028,Q5H8A4,Q9UHX1 3 |
| Bilateral tonic clonic seizure with generalized onset 0.5322067019650824 1.1723593825155527 0.2410527995951557 1.0 1.0 8 P04062,Q05086 2 |
| Absent hypoplastic paranasal sinuses 0.8117567488773394 1.1657250173794982 0.243725641970631 1.0 1.0 3 P04066 1 |
| Abnormality of chromosome segregation 0.6190883633752653 1.1632303756451952 0.2447360454264115 1.0 1.0 5 Q14739,Q15437 2 |
| Mask like facies 0.5539914354524972 1.1610261216925657 0.2456312766831319 1.0 1.0 7 P04062,Q05086 2 |
| Apraxia 0.396258732638842 1.159693217645534 0.2461737325476451 1.0 1.0 45 Q00577,P04062,Q96T60,Q8N3U4,Q7Z392,P46109,O96019,Q7Z6Z7,O14773,P28482,Q9Y619,P55011,Q05086 13 |
| Skin plaque 0.6182041442297737 1.1591896893987474 0.2463788732753791 1.0 1.0 5 Q06136 1 |
| Epistaxis 0.4780463381097753 1.153810642124471 0.2485778101603268 1.0 1.0 11 P04062,Q9BZK7 2 |
| Biliary cirrhosis 0.5761151918256648 1.152993858311086 0.2489129053804728 1.0 1.0 6 Q14739,P14174 2 |
| Nasogastric tube feeding 0.4187416321290894 1.1515287188632386 0.2495147873374001 1.0 1.0 19 Q15233,Q96C86,Q9UDR5,Q9H1A4,Q9UBB6,P55011,P15311 7 |
| Abnormality of the endometrium 0.5517502331041033 1.149660572559115 0.2502836994015589 1.0 1.0 7 Q86W42 1 |
| Aspiration pneumonia 0.4217560516357821 1.1485453457217496 0.2507435046208084 1.0 1.0 23 Q92734,Q00577,P04062,Q8N3U4,Q969G3,P21281,P36776,P78318 8 |
| Abnormality of the vertebral endplates 0.6575468240799426 1.1475582427303628 0.251150976361 1.0 1.0 4 O14802,P51798 2 |
| Myotonia 0.5512105098240452 1.146923904342848 0.2514130721800729 1.0 1.0 7 P08237,Q9BTV4 2 |
| Broad philtrum 0.4858574498080956 1.1464656428411433 0.2516025352613558 1.0 1.0 10 P11166,Q969G3,Q9BZK7 3 |
| Abnormality of the incisor 0.416694950989411 1.1455840989194153 0.251967279715185 1.0 1.0 18 Q00577,P21281,O96019,Q7Z6Z7,P55011 5 |
| Gowers sign 0.5267865409904945 1.1435549167880934 0.2528082674882266 1.0 1.0 8 Q9Y5P6,Q8TD16 2 |
| Atelectasis 0.5266981387323325 1.1430852413406785 0.2530032013181675 1.0 1.0 8 P57076 1 |
| Subcutaneous hemorrhage 0.4219093718872199 1.1429641953805882 0.253053457130225 1.0 1.0 27 P04062,P28482,Q9BZK7,P51798,P17612,P21964,Q14108,Q06124 8 |
| Mitral valve calcification 0.6560918307032445 1.1412858261118033 0.253750998512003 1.0 1.0 4 P04062 1 |
| Cardiac valve calcification 0.6560918307032445 1.1412858261118033 0.253750998512003 1.0 1.0 4 P04062 1 |
| Synostosis involving digits 0.8547358834244103 1.1412566777179411 0.2537631245910248 1.0 1.0 2 Q9H1A4 1 |
| Macrogyria 0.6560200442215331 1.1409764010207537 0.2538797436235256 1.0 1.0 4 O43505 1 |
| Abnormality of pelvic girdle bone morphology 0.33065892713019 1.14075800737849 0.2539706398776951 1.0 1.0 103 Q5H8A4,Q14807,Q9Y4R8,Q99575,P61011,Q8TD16,Q9NUQ7,Q16531,O75844,P57678,Q9Y5P6,Q6NW34,Q8N3U4,Q7Z392,Q9H267,Q7Z6Z7,Q15056,Q14739,P55011,Q9BPU6,Q14683,Q15427,P51798,P11172,Q9UHX1,Q15738,O96028,P54886,P51812,O14802,Q9H3U1,Q12756,Q9UBM7,P36776,O96019,Q9Y487,Q9Y619,P00813 38 |
| Thin skin 0.4279495919606407 1.1405116099777068 0.254073218591925 1.0 1.0 15 P17612,Q13126,P54886,Q9Y619,O14802 5 |
| Right ventricular hypertrophy 0.8050113895216433 1.1396998942127812 0.254411351260245 1.0 1.0 3 Q15233,P11047 2 |
| Broad based gait 0.4144015873450672 1.139063307192482 0.2546767503154288 1.0 1.0 17 O14773,P04062,Q05086,Q05682 4 |
| Cholestatic liver disease 0.6552111301629275 1.137489985738665 0.2553335086080555 1.0 1.0 4 Q9UBM7,Q9H267 2 |
| Congenital malformation of the left heart 0.8041555426597844 1.1364009988524335 0.2557887779555967 1.0 1.0 3 O14802 1 |
| Heterogeneous 0.420877637471667 1.1347030493698989 0.2564997592336959 1.0 1.0 26 P15924,P51798,P21964,P35222,Q15738,O15344,Q9Y619,P29372,O75844 9 |
| Abnormal pulmonary thoracic imaging finding 0.4408189107871867 1.1345620720655227 0.2565588522079989 1.0 1.0 14 P04062,O95453,P15924,P21964,P57076 5 |
| Hypopigmentation of the fundus 0.8529143897996372 1.134029636715087 0.2567821165792696 1.0 1.0 2 Q9Y619 1 |
| Abnormality of fundus pigmentation 0.8529143897996372 1.134029636715087 0.2567821165792696 1.0 1.0 2 Q9Y619 1 |
| Absent eyebrow 0.5719790393872164 1.132941034724568 0.257239016206537 1.0 1.0 6 Q9H1A4,O75844 2 |
| Spinal cord lesion 0.8031890660592242 1.1326765807769752 0.2573500958969843 1.0 1.0 3 Q9Y2U8,P35222 2 |
| Syringomyelia 0.8031890660592242 1.1326765807769752 0.2573500958969843 1.0 1.0 3 Q9Y2U8,P35222 2 |
| Abnormality of the knee 0.331868734535739 1.1316400865988652 0.2577857796873122 1.0 1.0 60 Q12756,Q5JRA6,Q9Y4R8,P51798,Q9Y5P6,P37268,Q6NW34,Q16851,P11047,P17612,Q9H1A4,P21964,P36776,Q8TD16,O00469,Q9NUQ7,Q9Y619 17 |
| Gingival bleeding 0.4742894110975036 1.1311811028815215 0.2579788739385535 1.0 1.0 11 Q14108,P04062,Q9BZK7 3 |
| Severe global developmental delay 0.3802211980920301 1.1300280588066465 0.258464401497152 1.0 1.0 49 O00584,Q5H8A4,Q9Y4R8,Q92979,P55263,P57678,Q9BZK7,Q16851,Q96S52,Q7Z6Z7,P55011,Q9BPU6,Q00577,Q9H490,Q9H2M9,Q9UN37,P51812,O96019,O75381 19 |
| Saccadic oscillation 0.851548269581061 1.1286124123851096 0.259061372245144 1.0 1.0 2 P04062 1 |
| Opsoclonus 0.851548269581061 1.1286124123851096 0.259061372245144 1.0 1.0 2 P04062 1 |
| Osteopetrosis 0.8515482695810592 1.1286124123851031 0.2590613722451467 1.0 1.0 2 Q15392 1 |
| Congenital malformation of the great arteries 0.298935913109025 1.12796246650105 0.2593357707599408 1.0 1.0 74 Q86W42,Q969G3,P21281,P46109,P51571,P28482,O75844,P0DP25,Q8N3U4,Q15392,Q9Y4A5,P21964,P57076,P78318,P42892,Q15233,P11172,Q9UHX1,P43897,Q06124,Q8TAQ2,Q6PGP7,Q9UBM7,Q86Y56 24 |
| Bilateral cryptorchidism 0.5474085570395189 1.1276508466473611 0.2594674038917168 1.0 1.0 7 P37268,P78318 2 |
| Portal fibrosis 0.6528615434754905 1.127366408468477 0.2595875954426865 1.0 1.0 4 Q9H3U1 1 |
| Abnormal cardiac ventricular function 0.4825332228000686 1.1270851913859674 0.2597064637896853 1.0 1.0 10 Q15233,P00403,O75844,O95235 4 |
| Clonic seizure 0.6107998675552571 1.1253735759087076 0.2604307635171246 1.0 1.0 5 Q96T60 1 |
| Abnormality of mouth shape 0.3642337990419131 1.1241504328018774 0.260949213222355 1.0 1.0 53 Q15233,Q12756,Q00577,Q5H8A4,Q9H490,Q9Y4R8,P04062,P51812,O15294,O60566,P21281,P11047,O60341,Q96ST3,Q03001,Q9Y2U8,O96028,O14802 18 |
| Hypocholesterolemia 0.5699146711319032 1.1229363848675753 0.2614645132057638 1.0 1.0 6 P37268,P07602 2 |
| Episodic vomiting 0.521984073064532 1.1180471360076507 0.2635468624350765 1.0 1.0 8 Q9H3U1,P00403,Q9Y619 3 |
| Abnormality of adrenal physiology 0.4177069974400098 1.1173934896453783 0.2638261175564933 1.0 1.0 23 O95470,Q969G3,Q7Z392,P17612,P51809,P35222,Q13618 7 |
| Abnormal epidermal morphology 0.4382595324713839 1.1173050782581482 0.2638639049186571 1.0 1.0 14 Q06136,P52732,Q14574,O75844 4 |
| Abnormality of malar bones 0.3753166470994998 1.1168761441373074 0.264047285977218 1.0 1.0 50 Q15233,Q12756,Q9Y487,O75531,Q9BZK7,Q9H2M9,Q8N3U4,P35573,P46109,P21964,Q15738,Q14739,P28482,O14802 14 |
| Joint contracture of the hand 0.4181270060308885 1.1141995518362775 0.2651935876588527 1.0 1.0 28 Q15392,P46109,Q92979,P42892,P28482,O14802 6 |
| Temporal pattern 0.6495582382926763 1.1131420024916892 0.2656474468190022 1.0 1.0 4 P04062 1 |
| Breech presentation 0.5439058626748349 1.109903518560148 0.267040604139108 1.0 1.0 7 Q9Y619,O60313 2 |
| Full cheeks 0.4176568833989134 1.109300132009062 0.2673007281763178 1.0 1.0 27 Q12756,Q00577,P52732,Q9BZK7,P08754,Q8N3U4,P35573,Q9UHX1,Q9P2J5,P54886 10 |
| Abnormality of long bone morphology 0.3437175682082178 1.1080975394467405 0.2678196935071084 1.0 1.0 119 Q99575,P61011,P21281,P46109,Q13126,Q9Y2U8,P28482,Q9NUQ7,O75844,Q6NW34,Q16851,Q96S52,Q13868,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q9H490,P51798,O95453,Q9H2M9,Q9H1A4,Q9UHX1,Q15738,P51812,O96028,P07237,O14802,Q06124,Q9H3U1,Q12756,O60832,Q5JRA6,P37268,P17612,Q9UBM7,Q15022,P36776,O96019,O00469,Q9Y487,Q96T60,Q9Y619,P00813,O75381 45 |
| Aplasia hypoplasia of the phalanges of the hand 0.3986814313559926 1.1066790210382562 0.2684327287926358 1.0 1.0 42 Q5JRA6,P51798,Q9H2M9,Q6NW34,Q969G3,P21281,Q96S52,P46109,Q9H1A4,P36776,Q9UHX1,Q14739,P28482,O75844 14 |
| Visual loss 0.4052209668947911 1.1065506506319511 0.2684882536240891 1.0 1.0 39 Q12756,P07602,Q92734,P52732,O60313,P51798,A6NHR9,Q969G3,P53701,P35222,O14773,O75503 12 |
| Asymmetry of the ears 0.8456284153005511 1.105169526983019 0.2690861384175171 1.0 1.0 2 Q9H2M9 1 |
| Postural instability 0.4598604393141264 1.1044325673188475 0.2694055399827761 1.0 1.0 12 Q96T60,O75503,P04062 3 |
| Optic nerve hypoplasia 0.4485882309267933 1.1037470856583391 0.2697028642120347 1.0 1.0 13 Q9Y5P6,P37268,Q8N3U4 3 |
| Myopathic facies 0.6468603295389808 1.10153243414328 0.2706649963626755 1.0 1.0 4 Q00577 1 |
| Impaired proprioception 0.4139516738540835 1.0998165404058051 0.2714120641024222 1.0 1.0 21 O15020,O14773,Q9Y619,O14802,Q13217 5 |
| Cerebral white matter atrophy 0.4088761135016407 1.0980553373431725 0.2721803262309845 1.0 1.0 17 Q7Z392,O75503,O60313,Q9H9P8 4 |
| Abnormal atrioventricular conduction 0.4685289873658162 1.0965169277850026 0.272852619492526 1.0 1.0 11 O43772,P0DP25,Q9BTV4 3 |
| Birth length less than 3rd percentile 0.7931288654430719 1.09396997461241 0.2739681470102604 1.0 1.0 3 Q9NXE4 1 |
| Congenital contracture 0.4152158767453693 1.0910043442764703 0.2752709710199874 1.0 1.0 28 Q12756,P04062,Q15392,Q96S52,Q99986,Q8TD16,O00469,O75844,Q9NXE4 9 |
| Vertebral compression fracture 0.4576805986461885 1.0908583019113294 0.275335237605034 1.0 1.0 12 P61011,P04062 2 |
| Abnormality of the achilles tendon 0.4576329021216823 1.0905613840936774 0.2754659291671679 1.0 1.0 12 Q92734,Q8TD16,O60313,Q9BTV4 4 |
| Generalized hyperpigmentation 0.4762405532401209 1.0904315004765603 0.2755231121412804 1.0 1.0 10 O60832,P21281,Q7Z392 3 |
| Phenotypic variability 0.2929172130899343 1.0900407173386883 0.2756952084119612 1.0 1.0 71 P07602,Q8WWY3,P17900,Q969G3,Q9H061,P35222,Q8TD16,P08237,P52732,Q9BUF5,O60313,Q9Y5P6,P00403,Q13868,Q00577,Q6P2Q9,O95453,O95470,Q70HW3,P00374,Q12756 21 |
| Triangular mouth 0.644022980261428 1.0893311851833236 0.2760078654084652 1.0 1.0 4 P11047,O60566 2 |
| Acne 0.5395860996992561 1.0880305255971436 0.276581631866923 1.0 1.0 7 P21964,Q92542 2 |
| Abnormality of skeletal maturation 0.2902972749078173 1.0852333351172208 0.2778183234597375 1.0 1.0 69 Q5H8A4,Q99575,P61011,Q969G3,Q9NSD9,P51809,Q7Z6Z7,Q15056,Q14108,P04062,Q14683,Q9H1A4,Q96ST3,P51812,O96028,P54886,Q08J23,Q06124,Q8TAQ2,P62140,Q8IY37,Q9UQ13,P36776,Q15022,Q9Y619 25 |
| Pancytopenia 0.4126214792343024 1.0806181536703854 0.2798670039049915 1.0 1.0 31 O60934,Q6UN15,P05166,O60832,P04062,Q9BZK7,P61011,Q9H1A4,P00374,Q14108,Q96EY8 11 |
| Abnormal uterus morphology 0.4100607814840394 1.0778298414512908 0.2811096995851532 1.0 1.0 20 Q86W42,Q15437,P51812,P43246,O60566,Q9UBM7,P35222,P52701 8 |
| Upslanted palpebral fissure 0.3168410826613899 1.07778037584867 0.2811317791884082 1.0 1.0 62 Q86W42,Q9H9B1,Q9Y4R8,Q16531,O60934,P52732,P42695,Q9Y4A5,P21964,Q13868,Q7Z6Z7,Q15233,Q00577,Q14683,Q96ST3,Q9UHX1,Q9BTW9,Q15738,O14802,P62140,O60566,Q9UBM7,Q15029,O75381 24 |
| Occipital encephalocele 0.788774144373553 1.0772533350776472 0.2813671036553509 1.0 1.0 3 O43505 1 |
| Long nose 0.6002121529291653 1.077098466753188 0.2814362779910901 1.0 1.0 5 O60934,Q86W42,Q9H490 3 |
| Abnormal right atrium morphology 0.8383424408014599 1.0763930158011472 0.2817515245948399 1.0 1.0 2 O95235 1 |
| Ascites 0.40735534466513 1.0759405052331903 0.2819538651749846 1.0 1.0 18 Q14739,Q14108,P04062,Q15645 4 |
| Abnormality of the metacarpal bones 0.4130198641166951 1.072673122686504 0.2834178036224906 1.0 1.0 27 Q15233,P51798,Q9H2M9,Q6NW34,Q96S52,O96028,Q9UBM7,Q9H1A4,P36776,P51812,Q14739 11 |
| Submucous cleft soft palate 0.7874055470665726 1.0720048528257178 0.2837178524659647 1.0 1.0 3 O14802 1 |
| Adrenal insufficiency 0.4065948264075411 1.0702822769264986 0.2844922694461465 1.0 1.0 18 O95470,Q969G3,Q7Z392,P51809,P35222 5 |
| Highly arched eyebrow 0.394692170024924 1.0700751947228593 0.2845854634345752 1.0 1.0 42 Q9H9B1,Q5H8A4,P46109,Q5KU26,P28482,Q8N3U4,Q16851,Q96S52,Q9Y4A5,Q5SRE5,O60341,Q7Z6Z7,P55011,Q9BPU6,Q9NXE4,Q14683,Q9UHX1,P51812,O96028,O96019,Q96F07 21 |
| Impaired mastication 0.5983487916662444 1.0686146630354312 0.2852433385963178 1.0 1.0 5 P11047 1 |
| Duplication involving bones of the feet 0.4718207876672251 1.0647201451470685 0.2870025910094687 1.0 1.0 10 O96028,P21964,Q14739 3 |
| Vaginal fistula 0.5349356913839868 1.0645046532457956 0.2871001475580268 1.0 1.0 7 O15160,P36776,Q16531 3 |
| Retinal dystrophy 0.4053264569370198 1.0633964411223 0.2876022060179113 1.0 1.0 36 Q8WWY3,P52732,Q6P2Q9,Q9Y4R8,O43505,P53701,P57076,Q9UN37,Q13868,P22570,O75381 11 |
| Centrally nucleated skeletal muscle fibers 0.5969561362189914 1.062276719727705 0.288110079839639 1.0 1.0 5 P51114,Q9BPX6 2 |
| Polyphagia 0.6374045471997256 1.0609074608049538 0.2887319583261729 1.0 1.0 4 Q05086 1 |
| Complete atrioventricular canal defect 0.8342440801457197 1.0602464460109438 0.2890324960050625 1.0 1.0 2 Q9UHX1 1 |
| Decreased facial expression 0.4020379923368588 1.0595185889546546 0.2893636679965967 1.0 1.0 16 Q9Y5P6,Q00577,P04062,Q05086 4 |
| Abnormality of lower limb epiphysis morphology 0.491100256361882 1.0586124369945558 0.2897763204780537 1.0 1.0 9 P61011 1 |
| Abnormal metacarpal morphology 0.4092043118521178 1.0574566892780777 0.2903032110442392 1.0 1.0 22 Q15233,Q14807,Q9H2M9,Q6NW34,Q96S52,Q9H1A4,P36776,P51812,Q14739 9 |
| Beaking of vertebral bodies 0.5557801578760786 1.0545319065771364 0.2916394606621408 1.0 1.0 6 Q6NW34 1 |
| Chordee 0.6357033406144033 1.053610587794158 0.2920612397369706 1.0 1.0 4 P53701 1 |
| Carious teeth 0.4098316915166501 1.053334335615442 0.292187787609238 1.0 1.0 30 Q86W42,P51798,P61011,Q9UQ13,Q9H1A4,P21964,Q9Y487 7 |
| Squared iliac bones 0.8315118397085669 1.0494992448378642 0.2939484026165144 1.0 1.0 2 Q6NW34 1 |
| Renal hypoplasia 0.4072879882206465 1.049381526398357 0.2940025571533802 1.0 1.0 21 P57678,Q6PGP7,Q9UBM7,Q9Y4A5,P21964,Q9UHX1,Q9Y2U8 7 |
| Abnormality of dental structure 0.3529877660408484 1.0473399409705195 0.2949428209833831 1.0 1.0 54 Q86W42,O60832,Q5JRA6,P51798,O95453,A6NHR9,P61011,Q9UQ13,P53701,Q9H1A4,P21964,P36776,Q9Y487,P07237,P55011,O75844 16 |
| Chorioretinal atrophy 0.6337831305786131 1.0453792404131472 0.2958477274455426 1.0 1.0 4 P35222 1 |
| Chorioretinal degeneration 0.6337831305786131 1.0453792404131472 0.2958477274455426 1.0 1.0 4 P35222 1 |
| Abnormal conus terminalis morphology 0.5537792614967979 1.0448659014378938 0.2960849513528423 1.0 1.0 6 O60341,Q5H8A4,P35222 3 |
| Open mouth 0.4091542277619026 1.0446427677513224 0.2961881054460589 1.0 1.0 25 Q15233,Q12756,Q00577,P04062,O15294,P21281,Q96ST3,Q03001 8 |
| Medulloblastoma 0.5927119430165613 1.042977111031507 0.2969588937896039 1.0 1.0 5 P35222,Q9UPY3 2 |
| Arachnodactyly 0.4079911703653932 1.0428890405655182 0.2969996860020187 1.0 1.0 23 Q5H8A4,Q969G3,P46109,P21964,Q96ST3,P28482 6 |
| Speech apraxia 0.4026693746569605 1.0411139857573184 0.2978226493468385 1.0 1.0 18 Q00577,Q7Z392,O96019,Q7Z6Z7,Q9Y619,P55011 6 |
| Hyperpituitarism 0.4138111757322956 1.0410964113307308 0.2978308049356886 1.0 1.0 15 Q969G3,P35222,P51809 3 |
| Cerebral hamartoma 0.8292349726776013 1.040554184378491 0.2980825041153427 1.0 1.0 2 Q9H269 1 |
| Limb joint contracture 0.2909568992567763 1.039531887623084 0.2985574358078693 1.0 1.0 66 O60313,Q9Y4R8,P15924,Q9Y5P6,P37268,Q15392,P54886,P46109,Q92979,Q8TD16,O00469,P42892,P28482,Q9Y619,O14802,O75844,Q9BTV4 17 |
| Abnormality of the pulmonary veins 0.5295461055592606 1.037272942887925 0.2996086718437687 1.0 1.0 7 Q86Y56,Q15392,P57076 3 |
| Skin vesicle 0.4871394235693239 1.036679625344341 0.2998851905531976 1.0 1.0 9 O60832,Q14574 2 |
| Chronic infection 0.4871329147842941 1.0366436059148656 0.2999019830722917 1.0 1.0 9 Q6UN15,Q9BZK7,P51798 3 |
| Mandibular prognathia 0.4081495457357744 1.03498415176516 0.3006763125476095 1.0 1.0 26 Q06124,P52732,Q8N3U4,P11047,Q9UHX1,P51812,Q15022,P55011,Q05086,Q9NXE4 10 |
| Absent facial hair 0.4864599540250461 1.0329198810829154 0.3016413940304816 1.0 1.0 9 Q9H1A4,O15160,O75844,P15924 4 |
| Congenital malformation of the right heart 0.5903253709289739 1.0321357649745428 0.3020085214218186 1.0 1.0 5 Q8N3U4,P21281,P57076 3 |
| Increased bone mineral density 0.402786160518237 1.0320529255523485 0.3020473246459816 1.0 1.0 19 P04062,P51798,Q15392,Q13126,Q14739,Q14108 6 |
| Thickened calvaria 0.5284398086935802 1.0316883006846005 0.302218159825989 1.0 1.0 7 Q15233,O14802,Q8IWS0,P51812 4 |
| Furrowed tongue 0.5898423717190677 1.0299427060327668 0.3030369017356693 1.0 1.0 5 Q9H2M9 1 |
| Abnormality of the alveolar ridges 0.7763097949886197 1.029554098256372 0.3032193721980452 1.0 1.0 3 Q15392,P21281 2 |
| Heart block 0.3995192613626763 1.0288503268876652 0.3035500133302395 1.0 1.0 17 O75531,P0DP25,Q9BTV4,O43772,Q06124 5 |
| Color vision defect 0.5050194148044539 1.0281269260550423 0.303890126254188 1.0 1.0 8 Q9H061 1 |
| Hepatic fibrosis 0.4021276555157378 1.027143675442527 0.3043528154420742 1.0 1.0 19 Q9H3U1,P35573,P04062 3 |
| Epiphyseal stippling 0.5047156092438982 1.026520255840848 0.3046464207911286 1.0 1.0 8 Q15738,Q14739,Q9UBM7,O75381 4 |
| Melanocytic nevus 0.4650932037698651 1.0256507680551237 0.305056228151418 1.0 1.0 10 Q15437,Q96AY3,Q15022,P22681,Q06124 5 |
| Vaginal neoplasm 0.7749639048523118 1.024418017540586 0.3056378753290192 1.0 1.0 3 Q15645 1 |
| Sparse lateral eyebrow 0.5885113882854256 1.023901239014217 0.3058819249517013 1.0 1.0 5 Q00577,Q92643,Q08J23 3 |
| Abnormal atrioventricular valve morphology 0.4054981071356581 1.0238401403712531 0.3059107874382492 1.0 1.0 23 Q15233,P04062,P53701,P21964,P28482,O75844,Q06124 7 |
| Alopecia totalis 0.5882826696404457 1.0228633425932547 0.3063724636956328 1.0 1.0 5 Q9H1A4,O75844 2 |
| Female infertility 0.774487471526208 1.022600614222421 0.306496719078337 1.0 1.0 3 P57076,Q15645 2 |
| Chronic rhinitis 0.7744874715262065 1.0226006142224158 0.3064967190783396 1.0 1.0 3 P57076,P51798 2 |
| Anorectal anomaly 0.3725999985640378 1.0197476058549342 0.3078481775862061 1.0 1.0 48 O60934,Q86W42,Q9H9B1,O60832,Q15437,P43246,O95453,P51812,Q9UPY3,P53701,P21964,Q96ST3,P36776,P52701,O15344,Q15022,P29372,Q16531 18 |
| Leukonychia 0.5873992916597819 1.0188554722127672 0.3082715858089779 1.0 1.0 5 P52732,Q14574 2 |
| Abnormality of nail color 0.5873992916597819 1.0188554722127672 0.3082715858089779 1.0 1.0 5 P52732,Q14574 2 |
| Cerebellar cyst 0.4041728973123008 1.0173369169735509 0.3089931803340073 1.0 1.0 32 O60566,Q9Y5P6,O43505,Q8TAQ2,Q969G3,P21281,P36776,Q9Y487,O14802,Q9BPU6,Q15645 11 |
| Abnormal venous morphology 0.3976882226230037 1.0153510524336622 0.3099385166365764 1.0 1.0 17 P04062,P21964,P57076,Q9Y487,O14802 5 |
| Dental malocclusion 0.3990907559416461 1.0145825031196758 0.3103048832830044 1.0 1.0 18 Q86W42,P51798,A6NHR9,P21281,P51812,Q06124 6 |
| Schizophrenia 0.4447717310863999 1.010686398659971 0.3121665489285112 1.0 1.0 12 P07602,P04062,P21964,O43681,Q6Y7W6 5 |
| Abnormal sensory nerve conduction velocity 0.6245704748482621 1.0059666128569575 0.3144316308112902 1.0 1.0 4 O15269,Q12756 2 |
| Skin ulcer 0.4014508830013467 1.0053679665296984 0.3147196987307676 1.0 1.0 21 Q12756,O60832,P52732,P04062,O95453,P61011,Q14739 7 |
| Intellectual disability borderline 0.8201275045537358 1.004879829083601 0.3149547182662784 1.0 1.0 2 Q7Z392 1 |
| Lower limb hypertonia 0.5003605662337296 1.0035068013647033 0.3156163969955821 1.0 1.0 8 Q14739,P54886 2 |
| Congenital hip dislocation 0.4019564463065858 1.0024540346231725 0.3161243560068141 1.0 1.0 22 P57678,P36776,Q9UHX1,Q8TD16,Q15738,Q9Y487,P54886 7 |
| Germinoma 0.8192167577413523 1.0013222165918405 0.3166710554763372 1.0 1.0 2 P35222 1 |
| Pilomatrixoma 0.8192167577413523 1.0013222165918405 0.3166710554763372 1.0 1.0 2 P35222 1 |
| Delayed eruption of teeth 0.3965429147406966 1.000666874268605 0.316987887372564 1.0 1.0 37 Q5JRA6,Q14683,P51798,P61011,P21281,Q969G3,Q9H1A4,P36776,P31150,P51812,Q9Y487,P07237,O14802,O75844,Q8TAQ2 15 |
| Abnormality of the thoracic cavity 0.4996444980756461 0.99972629911138 0.3174429811941093 1.0 1.0 8 P61011,Q969G3 2 |
| Abnormality of the axillary hair 0.5831511443210718 0.9995999481547784 0.3175041482579326 1.0 1.0 5 Q14574,P51809 2 |
| Fibrosarcoma 0.8187613843351593 0.9995441100494212 0.3175311821963396 1.0 1.0 2 P35222 1 |
| Nonprogressive 0.6230628988149558 0.999530681372783 0.3175376838958936 1.0 1.0 4 Q9ULM3,Q69YN2,Q9BUF5 3 |
| Spastic tetraparesis 0.3952150987861962 0.997144416645119 0.3186944161223428 1.0 1.0 17 P07602,P17900,Q5JPH6,Q9H9P8 4 |
| Abnormal fallopian tube morphology 0.5824601844243702 0.9964710314902464 0.3190213354020257 1.0 1.0 5 Q92878,P53701 2 |
| Hypopigmented skin patches 0.3933256402940577 0.995571481448462 0.3194583970080971 1.0 1.0 16 P07602,O60832,Q15437,P53701,P21964 5 |
| Abnormal adipose tissue morphology 0.3787898222517302 0.993247673303949 0.3205892709374753 1.0 1.0 45 P52732,O75531,Q15437,P15924,Q9BZK7,P17612,P04066,Q9UN37,Q9Y2U8,Q9Y487,O14802,Q14126,O75844,Q9BTV4 14 |
| Abnormality of female external genitalia 0.4027490263130803 0.9929185015363284 0.3207496726452883 1.0 1.0 26 O75381,Q14683,Q9H2M9,A6NHR9,Q15392,Q9UBM7,P51809,P53701,P31939,Q9Y619,P22570,Q08J23 12 |
| Abnormality of refraction 0.3231017243060584 0.9925935816267362 0.3209080538932323 1.0 1.0 106 Q86W42,Q969G3,P21281,P11047,P35222,P52732,Q9Y5P6,Q7Z392,Q13868,Q7Z6Z7,P55011,Q15233,Q00577,Q92878,Q9H490,Q9UHX1,O14802,Q06124,Q15437,O15294,Q9UQ13,O96019,Q9Y487,Q05086 24 |
| Autoimmunity 0.3996664192108481 0.9919487628636622 0.321222520187288 1.0 1.0 21 P21964,P61011,Q15437 3 |
| Severe muscular hypotonia 0.3996478205962457 0.9918089976173284 0.3212907076689115 1.0 1.0 21 Q12756,Q00577,O43505,Q8TD16,Q92947,O75381 6 |
| Abnormal cervical spine morphology 0.5814056037148749 0.9916971946600092 0.3213452599516291 1.0 1.0 5 P04066 1 |
| Abnormality of skin physiology 0.2825695150302681 0.990002834507612 0.3221727335709858 1.0 1.0 68 Q06136,Q9H3U1,P52732,Q5JRA6,P15924,P61011,Q9UQ13,P17612,Q9UBM7,P50747,P21964,P14174,Q92542,Q14739,O14802,P02786,Q8TAQ2 17 |
| Aplasia hypoplasia involving the metacarpal bones 0.396606283754679 0.9860685327338692 0.3240994838724182 1.0 1.0 19 Q9H2M9,Q6NW34,Q96S52,Q9H1A4,P36776,Q14739 6 |
| Osteolytic defects of the distal phalanges of the hand 0.6193887564280784 0.9838631898850442 0.3251827847533293 1.0 1.0 4 O75531 1 |
| Cutaneous finger syndactyly 0.8146630236794201 0.9835626222825868 0.3253306107378446 1.0 1.0 2 Q9Y619 1 |
| Type i diabetes mellitus 0.4769948069453772 0.980645078845512 0.3267677961437218 1.0 1.0 9 Q5JRA6,P00403,Q13217 3 |
| Delayed ossification of carpal bones 0.8137522768670311 0.98001654760054 0.3270779505118963 1.0 1.0 2 P36776 1 |
| Frontal cortical atrophy 0.4571154714619997 0.9794547362081608 0.3273553431242104 1.0 1.0 10 P55011,O96019 2 |
| Polyhydramnios 0.3953854388072468 0.978720030753908 0.327718332029755 1.0 1.0 36 P50570,P62140,P04062,Q6PGP7,P51798,O60566,P21281,Q70HW3,Q9UQ13,Q9UBM7,P21964,Q96ST3,P36776,Q9BTW9,Q14739,O75844,Q15645 17 |
| Mucosal telangiectasiae 0.5178978414617152 0.97857646164067 0.3277892943472777 1.0 1.0 7 Q14739 1 |
| Pectus excavatum 0.3036996612283652 0.9784993086168908 0.3278274331124162 1.0 1.0 63 Q15555,Q9Y4R8,Q96J02,Q9BZI7,Q9NSD9,Q6NW34,P78318,Q7Z6Z7,Q15056,Q8WXH0,Q9H490,P04062,Q14683,Q9H2M9,Q9UHX1,Q9BTW9,P51812,P54886,Q08J23,Q06124,P62140,Q15437,Q9UQ13,Q9Y487,P22681,Q9BTV4 26 |
| Waddling gait 0.3937297788299615 0.9749599784872768 0.3295801125170312 1.0 1.0 18 Q9Y5P6,Q7Z392,P11047,Q8TD16,Q9NUQ7,Q9BTV4 6 |
| Natal tooth 0.5166201775326632 0.9721539907850328 0.3309739456871503 1.0 1.0 7 O14802,O75844,P15924 3 |
| Abnormality of the chin 0.3329879110398201 0.9700633588635934 0.332014911535857 1.0 1.0 57 Q86W42,Q06124,P52732,Q9H490,Q8N3U4,P11047,P46109,Q03001,O14802,P28482,P55011,Q05086,Q9NXE4 13 |
| Cough 0.3955666061449411 0.9692412881779024 0.3324248152198872 1.0 1.0 20 O15269,Q6UN15,Q92734,P04062,P15924,Q9BZK7,O95453,Q86Y56,P57076 9 |
| Abnormality of the zygomatic bone 0.3328639614244097 0.9686430432125408 0.332723319567429 1.0 1.0 57 Q15233,Q12756,Q9Y487,O75531,Q9BZK7,Q9H2M9,Q8N3U4,P35573,P46109,P21964,Q15738,Q14739,P28482,O14802 14 |
| Decreased testicular size 0.4032805823132256 0.967519018937532 0.3332846382634871 1.0 1.0 15 O43505,O15294,P51809 3 |
| Positive romberg sign 0.615237673621375 0.966193828017219 0.3339472006949679 1.0 1.0 4 O14802 1 |
| Cerebral cortical atrophy 0.2796916963881932 0.965087509408646 0.3345009825838365 1.0 1.0 67 Q9H9B1,Q5KU26,Q8TD16,Q9Y5P6,Q16851,Q96S52,Q9Y4A5,P00403,Q7Z6Z7,Q15056,P55011,Q6Y7W6,Q9BPU6,P04062,Q14683,O95453,Q9H2M9,P51812,P54886,O14802,Q12756,O60832,O96019,Q9Y619,O75503,Q05086 26 |
| Aplasia hypoplasia of the skin 0.3891590827321924 0.9650231435958644 0.3345332199232702 1.0 1.0 39 O60832,Q5H8A4,P15924,O95453,Q15392,P21281,P17612,Q13126,P53701,Q9H1A4,Q03001,Q9Y2U8,P54886,Q9Y619,O14802,O75844 16 |
| Central nervous system cyst 0.3807854408518507 0.9642832883950369 0.3349039170001431 1.0 1.0 43 Q9Y487,O60566,Q9Y5P6,O43505,Q8TAQ2,Q969G3,P21281,P36776,Q9UHX1,P35222,O96028,O14802,Q9BPU6,Q15645 14 |
| Alkalosis 0.8096539162112966 0.9640842660973442 0.3350036802957561 1.0 1.0 2 Q9Y619 1 |
| Oligodontia 0.473288878039739 0.9602359623523956 0.3369364712030442 1.0 1.0 9 Q7Z6Z7,Q6NW34,O14802 3 |
| Polymicrogyria 0.3321169801373415 0.9600887899630398 0.3370105298547123 1.0 1.0 57 P21281,Q8TD16,Q9UBB6,Q9NUQ7,Q9Y5P6,Q15392,P55011,Q9H2M9,Q9UN37,Q15738,O14802,Q12756,O43505,P37268,Q96C86,P36776,Q9Y487,O75381,P15311 19 |
| Purpura 0.4261105103346266 0.9590521591813862 0.3375324695192945 1.0 1.0 13 P21964,Q9BZK7,P04062,P51798 4 |
| Narrow mouth 0.3563393682889921 0.9589626908827824 0.3375775408059254 1.0 1.0 51 Q15233,Q9BPU6,P04062,Q6PGP7,Q96C86,Q15392,P54886,P46109,P21964,Q96ST3,O14802,O96019,Q7Z6Z7,Q9Y487,P28482,Q9Y619,P55011,O75844 18 |
| Abnormal diaphysis morphology 0.3597735768809779 0.958108301007784 0.3380081500764875 1.0 1.0 50 Q14807,P46109,Q13126,P28482,Q9NUQ7,Q6NW34,Q16851,Q15056,Q14739,P51798,Q9H1A4,P51812,P07237,O14802,Q06124,P17612,P36776,O00469,Q9Y487,Q9Y619 20 |
| Patchy palmoplantar hyperkeratosis 0.807832422586528 0.95701677398408 0.3385587886076764 1.0 1.0 2 Q06136 1 |
| Bone fracture 0.5733481124044251 0.95529512894095 0.3394284701211487 1.0 1.0 5 Q13126,Q9H1A4,P51798 3 |
| Hip dysplasia 0.3938252675086016 0.9551950955570024 0.339479045557197 1.0 1.0 35 Q9H3U1,Q7Z392,Q9H267,P11172,O14802,Q9UHX1,Q8TD16,O96019,Q7Z6Z7,Q9NUQ7,P55011,Q9BPU6 12 |
| Polysplenia 0.7561839573098961 0.9530960361704028 0.3405414143060774 1.0 1.0 3 P57076 1 |
| Osteolysis involving bones of the feet 0.6119226215480515 0.9521091207150204 0.3410416439020456 1.0 1.0 4 Q12756 1 |
| Foot acroosteolysis 0.6119226215480515 0.9521091207150204 0.3410416439020456 1.0 1.0 4 Q12756 1 |
| Generalized hypopigmentation of hair 0.5119895623088716 0.9489076718351996 0.3426675723134234 1.0 1.0 7 O60832,Q05086 2 |
| Bilateral ptosis 0.424507760070857 0.9488035794552448 0.3427205210346837 1.0 1.0 13 P21281,O60313,P11047 3 |
| Abnormality of mouth size 0.3005875248940571 0.9483175096107548 0.3429678396434812 1.0 1.0 87 Q969G3,P21281,P46109,P28482,P51571,O75844,Q15392,Q9Y4A5,P21964,Q7Z6Z7,P55011,Q9BPU6,Q15233,P04062,Q9H490,P11166,Q96ST3,P51812,P54886,O14802,Q8TAQ2,Q6PGP7,P08754,Q96C86,Q9UBM7,O96019,Q9Y487,Q9Y619,Q05086 29 |
| Large fleshy ears 0.7537710843401351 0.943984164140352 0.3451777406739882 1.0 1.0 3 P21281 1 |
| Iris coloboma 0.3955819331881754 0.94362961541805 0.3453589528703551 1.0 1.0 24 Q5H8A4,O43505,A6NHR9,Q7Z392,P53701,Q96ST3,Q9UHX1,P78318,O96028 9 |
| Generalized hirsutism 0.3878485816959585 0.9431172533350825 0.3456209316472338 1.0 1.0 17 Q06136,Q9H2M9 2 |
| Cubitus valgus 0.4121497499437257 0.9423551852746178 0.3460108232367811 1.0 1.0 14 Q99575,Q06124,P28482 3 |
| Osteolysis 0.3939197028858565 0.9418205044891058 0.3462845454573222 1.0 1.0 22 O75531,P04062,P35222,Q14108,Q15645 5 |
| Slow pupillary light response 0.7531161290019139 0.941513048726072 0.3464420054962014 1.0 1.0 3 P11047 1 |
| Abnormal pupillary light reflex 0.7531161290019139 0.941513048726072 0.3464420054962014 1.0 1.0 3 P11047 1 |
| Reduced forced vital capacity 0.7525120632168724 0.9392347945981688 0.3476102082761767 1.0 1.0 3 O95453 1 |
| Aplasia hypoplasia involving bones of the thorax 0.3941551371512189 0.9376328822062958 0.3484331069207513 1.0 1.0 23 P21281,Q9UHX1,Q15738,Q14739,Q9Y619,O75844,Q06124 7 |
| Abnormality of bone mineral density 0.3132183067204199 0.9376066623813007 0.3484465862727428 1.0 1.0 100 P07602,Q5H8A4,P61011,Q13126,P35222,Q9Y2U8,Q9NUQ7,O75844,P57678,Q15392,P51809,Q14739,Q14108,O75531,P04062,Q9H490,P51798,O95453,Q9H1A4,O96028,P54886,O14802,Q9H3U1,Q12756,O60832,Q5JRA6,P17612,O00469,Q9Y487 29 |
| Abnormal circulating cholesterol concentration 0.3940858316748772 0.937108828311822 0.3487025807068329 1.0 1.0 23 P07602,Q8WXH0,P37268,Q15392,Q15738,Q14739,Q9BTV4 7 |
| Intestinal atresia 0.4876594270729547 0.9366214403991786 0.3489533192780427 1.0 1.0 8 Q96ST3,Q8N3U4,Q15645 3 |
| Concentric hypertrophic cardiomyopathy 0.802367941712208 0.93586649543516 0.3493419296052258 1.0 1.0 2 P43897 1 |
| Abnormal salivary gland morphology 0.6080218778486849 0.9355676258115756 0.3494958495879832 1.0 1.0 4 P52701,P16615,P43246 3 |
| Kyphosis 0.318857992573533 0.9335464403775716 0.3505379042383802 1.0 1.0 106 Q5H8A4,Q9Y4R8,Q99575,P21281,Q8TD16,Q9NUQ7,O75844,Q6NW34,P04066,Q7Z6Z7,Q14739,Q14108,P55011,Q9BPU6,Q15233,Q8WXH0,P04062,Q9H2M9,Q96ST3,Q9UHX1,Q15738,O96028,P54886,P51812,O14802,Q06124,Q15437,P82930,O96019,O00469,Q9Y487,Q96T60,Q9BTV4 33 |
| Renal dysplasia 0.4404410961225129 0.928528453752484 0.3531335151983426 1.0 1.0 11 O43505 1 |
| Mania 0.4856088606275617 0.9258614851898096 0.3545179691562374 1.0 1.0 8 P21964,Q9H269,P00403 3 |
| Delayed closure of the anterior fontanelle 0.4469892592728957 0.921087988882014 0.3570044906109364 1.0 1.0 10 Q9Y487,O14802,O75531,O75381 4 |
| Abnormality of the synovia 0.2882362816934261 0.9208312493864836 0.3571385371802344 1.0 1.0 65 Q9Y4R8,Q8TD16,Q9NUQ7,O75844,P57678,Q9Y5P6,Q6NW34,Q8N3U4,P55011,Q9BPU6,Q9UHX1,Q15738,O96028,P54886,O14802,Q06124,Q9UBM7,P36776,Q9Y487 19 |
| Macular degeneration 0.4390746525508341 0.9204202296617682 0.357353201171755 1.0 1.0 11 P04062 1 |
| Small face 0.39299880367599 0.9201613576907364 0.3574884443791135 1.0 1.0 25 Q14669,Q08J23,Q9BZI7,Q96ST3,O96019,Q7Z6Z7,Q15056,Q15738,P55011,Q9BPU6 10 |
| Carcinoma 0.6040848154053681 0.9189090796036984 0.3581431304039668 1.0 1.0 4 O60832 1 |
| Specific learning disability 0.3622302078691637 0.9177445592161652 0.3587526134678249 1.0 1.0 48 Q86W42,Q9H9B1,P61011,P53701,Q9Y2U8,P52732,Q9NSD9,Q8N3U4,P21964,P00403,P31150,Q8N0X7,P11166,Q9BPX6,P54886,O43505,P48506,Q96T60,Q9Y619 19 |
| Hyperextensible skin 0.4084017667999624 0.9174786102136258 0.3588918964500998 1.0 1.0 14 Q06124,Q9UQ13,P04062,Q9UHX1 4 |
| Abnormal cortical gyration 0.3126040511274819 0.915194015300726 0.3600897859054131 1.0 1.0 101 Q969G3,P21281,Q8TD16,Q9UBB6,Q9NUQ7,P52732,Q9BZK7,Q9Y5P6,Q15392,P42695,Q9H267,P55011,Q9NXE4,O60508,Q9H2M9,Q9UN37,Q15738,O14802,Q12756,O43505,P37268,Q96C86,P36776,Q9UPN3,Q9Y487,Q96T60,O75381,P15311 28 |
| Abnormal bronchus morphology 0.3957247399265554 0.9150760444633216 0.3601517100424141 1.0 1.0 15 O60934,Q9H9B1,O95453,P15924,Q86Y56,P57076 6 |
| Broad eyebrow 0.4290833477532787 0.9139613894610398 0.3607371341870382 1.0 1.0 12 Q6NW34,P28482 2 |
| Deviation of the hallux 0.3891459071490771 0.9132497488322904 0.3611112046281755 1.0 1.0 21 P04062,P21281,O96019,Q7Z6Z7,P55011 5 |
| Proximal femoral metaphyseal abnormality 0.7455170452621358 0.9129148898389032 0.3612873057724926 1.0 1.0 3 P61011 1 |
| Insidious onset 0.7453074431475006 0.912128047339474 0.3617013153171635 1.0 1.0 3 P04062 1 |
| Postnatal growth retardation 0.3674791188904211 0.9120964211060438 0.3617179621708613 1.0 1.0 46 Q9Y487,P17900,Q9H2M9,P11166,Q969G3,Q8TAQ2,Q96ST3,Q92979,P35222,O95235,O96028,P54886,Q06124 13 |
| Joint dislocation 0.2931129497299582 0.9114263311960984 0.3620707850379379 1.0 1.0 64 Q14807,Q9Y4R8,Q8TD16,P51571,O75844,P57678,Q9Y5P6,Q8N3U4,P21964,Q15056,P55011,Q9BPU6,Q14683,Q15427,P51798,Q9UHX1,Q15738,O96028,P54886,Q9UBM7,P36776,Q92947,Q9Y487,Q9Y619 24 |
| Abnormal blood monovalent inorganic cation concentration 0.4185375790111895 0.910734868362038 0.3624350873742483 1.0 1.0 13 Q9H3U1,Q9NP81,Q13618,P0DP25 4 |
| Abnormal labia morphology 0.394932368713827 0.909596603738302 0.3630352903711975 1.0 1.0 15 Q14683,Q9H2M9,A6NHR9,P51809,P31939,Q9Y619 6 |
| Blindness 0.322928434463309 0.9066057032036822 0.3646153447347082 1.0 1.0 58 Q9NR50,P07602,Q8WWY3,P52732,Q6P2Q9,P51798,Q9Y5P6,O43505,P19404,Q969G3,A6NHR9,P11047,P53701,P36776,P35222,P28331,P22570 17 |
| Bilateral talipes equinovarus 0.6010431047048763 0.9060659465126396 0.3649009483238341 1.0 1.0 4 P28482 1 |
| Intestinal fistula 0.5620418330632319 0.9044639391454776 0.3657494474425551 1.0 1.0 5 O15160,P36776,Q16531 3 |
| Rectal fistula 0.5620418330632319 0.9044639391454776 0.3657494474425551 1.0 1.0 5 O15160,P36776,Q16531 3 |
| Skeletal dysplasia 0.3902397289600133 0.9039794088774074 0.3660063200137162 1.0 1.0 32 Q14807,Q99575,P61011,Q9H1A4,P36776,Q9Y2U8,Q14739,Q9NUQ7,P07237,O75381 10 |
| Crackles 0.793260473588342 0.900801277519814 0.3676939881989676 1.0 1.0 2 P15924 1 |
| Abnormal cell morphology 0.793260473588342 0.900801277519814 0.3676939881989676 1.0 1.0 2 P15924 1 |
| Honeycomb lung 0.793260473588342 0.900801277519814 0.3676939881989676 1.0 1.0 2 P15924 1 |
| Poor wound healing 0.7422266494096297 0.9005755379849172 0.3678140456848626 1.0 1.0 3 P04062 1 |
| Tall stature 0.3815681703854883 0.8989185064028419 0.3686960697590484 1.0 1.0 39 Q15233,Q9H9B1,Q5H8A4,P17612,Q9UPY3,O14802,O96019,Q7Z6Z7,O96028,Q15022,Q15738,P55011,Q9BPU6 13 |
| Encephalocele 0.4802298145906464 0.8976960309681667 0.3693476260452781 1.0 1.0 8 O43505 1 |
| Abnormal thalamic size 0.7923497267759594 0.897308241749585 0.3695544598395828 1.0 1.0 2 Q9Y5P6 1 |
| Simple febrile seizure 0.7923497267759567 0.8973082417495734 0.369554459839589 1.0 1.0 2 Q9UDR5 1 |
| Conjugated hyperbilirubinemia 0.7923497267759556 0.8973082417495709 0.3695544598395903 1.0 1.0 2 Q9H267 1 |
| Abnormal circulating progesterone level 0.5604401589632659 0.8972898375638559 0.3695642778057348 1.0 1.0 5 Q9NR50,Q13144,Q9UI10 3 |
| Decreased circulating progesterone 0.5604401589632659 0.8972898375638559 0.3695642778057348 1.0 1.0 5 Q9NR50,Q13144,Q9UI10 3 |
| Postaxial polydactyly 0.4427901737302172 0.8969932894500435 0.3697224978314279 1.0 1.0 10 Q14739,P17612 2 |
| Recurrent sinusitis 0.7404498113711194 0.8939237282784219 0.3713627011510894 1.0 1.0 3 P57076 1 |
| Ichthyosis 0.3901689832180738 0.8934589114887428 0.3716114664519598 1.0 1.0 28 P04062,P15924,O95470,P61011,Q9UQ13,Q9H267,Q15738,O75381,Q9BTV4 9 |
| Abnormal trabecular bone morphology 0.5589269072773919 0.8905184402859715 0.3731875712986914 1.0 1.0 5 Q9H1A4,O60832 2 |
| Abnormal blood potassium concentration 0.4416552641315306 0.8904934826631737 0.373200966379184 1.0 1.0 10 Q9H3U1,P0DP25 2 |
| Oroticaciduria 0.790528233151188 0.8903298474600834 0.3732887988939151 1.0 1.0 2 Q9Y619 1 |
| Abnormality of the pulmonary artery 0.3876896150514465 0.8889082702657031 0.3740523803672846 1.0 1.0 23 P22681,P62140,Q6PGP7,P51798,Q14669,Q9UDR5,O96019,Q7Z6Z7,Q15056,P55011,Q9BPU6,Q06124 12 |
| Abnormality of the choanae 0.3891186565894497 0.8876581207387674 0.3747246796217904 1.0 1.0 26 O60934,Q14683,A6NHR9,Q9UBM7,P46109,P21964,Q15029,P78318,P28482,P55011,O75844 11 |
| Recurrent lower respiratory tract infections 0.3845262820514045 0.8873939473755686 0.3748668410147857 1.0 1.0 20 O60934,P29144,Q00577,Q9UDR5,P11047,P78318,P00813 7 |
| Broad palm 0.5209573992346999 0.8873397308645293 0.3748960210335901 1.0 1.0 6 Q14739,Q9BZK7 2 |
| Cafe au lait spot 0.3854927254193738 0.8857868249974381 0.375732410698367 1.0 1.0 35 O60934,P62140,Q06124,Q9BPU6,Q15437,Q6PGP7,P43246,O60566,Q9UQ13,Q9H1A4,Q96ST3,O96019,P52701,P28482,P55011,Q7Z6Z7,Q15645 17 |
| Abnormal sternum morphology 0.2938863866367938 0.8841270198899955 0.3766276487966318 1.0 1.0 85 Q15555,Q9Y4R8,Q96J02,Q9NSD9,Q6NW34,Q96S52,P78318,Q7Z6Z7,Q15056,Q14739,P55011,Q8WXH0,P04062,Q9H490,Q14683,Q9H2M9,Q9UHX1,Q9BTW9,P51812,O96028,P54886,Q08J23,Q06124,P62140,Q15437,O60566,Q9UQ13,O00469,Q9Y487,Q9Y619,P22681,Q9BTV4 32 |
| Poor suck 0.3858820140172716 0.8816496989390565 0.3779662703298521 1.0 1.0 22 Q15233,Q8N3U4,Q9UDR5,Q16851,P21281,P11047,Q05086,Q8TAQ2 8 |
| Reduced brain n acetyl aspartate level by mrs 0.7370204901230418 0.8811092892291494 0.3782586699159287 1.0 1.0 3 P09543 1 |
| Abnormal brain choline level by mrs 0.7370204901230418 0.8811092892291494 0.3782586699159287 1.0 1.0 3 P09543 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.7370204901230418 0.8811092892291494 0.3782586699159287 1.0 1.0 3 P09543 1 |
| Multifocal epileptiform discharges 0.3853807689315948 0.8779153411491939 0.3799896631871764 1.0 1.0 22 Q96C86,P55011,Q9UBB6,Q96T60,O75503,P15311 6 |
| Alopecia 0.3875341557481486 0.8750971946615936 0.3815210233668298 1.0 1.0 30 Q06136,O60832,P15924,O95453,P17612,P50747,Q9H1A4,Q13868,Q15738,P62304,O75844 11 |
| Single naris 0.735307517084294 0.8747203579299929 0.3817260803656497 1.0 1.0 3 A6NHR9,Q8N3U4 2 |
| Abnormal morphology of the olfactory bulb 0.735307517084294 0.8747203579299929 0.3817260803656497 1.0 1.0 3 A6NHR9,Q8N3U4 2 |
| Shield chest 0.5550433465741447 0.8731713341480366 0.3825696969827352 1.0 1.0 5 Q99575,P04066 2 |
| Non midline cleft lip 0.734851936218692 0.8730225361536091 0.3826507942416768 1.0 1.0 3 O60934,Q9NXE4 2 |
| Sclerocornea 0.4962666190494428 0.8704024289591231 0.3840805197639922 1.0 1.0 7 O96028,Q5H8A4,P53701 3 |
| Duplicated collecting system 0.5544140131167046 0.8703645425871515 0.3841012173362266 1.0 1.0 5 P28482,Q9UQ13 2 |
| Abnormal phalangeal joint morphology of the hand 0.382918400193655 0.8670627964338882 0.3859076035490876 1.0 1.0 21 P28482,Q92979,O14802,P46109 4 |
| Cns demyelination 0.4116285007220455 0.8669174794904084 0.3859872255041012 1.0 1.0 13 Q9NR50,P07602,Q9H9P8 3 |
| Palpebral edema 0.7327907851063642 0.8653485315818421 0.3868475210445274 1.0 1.0 3 Q12756 1 |
| Hereditary nonpolyposis colorectal carcinoma 0.5913416616459083 0.8652748919187047 0.3868879283359709 1.0 1.0 4 P35222,O60566 2 |
| Oromotor apraxia 0.5911577028259036 0.8645041089088771 0.3873110241276143 1.0 1.0 4 P39656,Q8N3U4,Q14683 3 |
| Hypocalcemia 0.4736423130283912 0.8633349018159708 0.3879533599641052 1.0 1.0 8 P21964,Q9NSD9,P51798 3 |
| Clubbing of fingers 0.7320930856502582 0.8627536334012028 0.3882729370699529 1.0 1.0 3 P15924 1 |
| Abnormality of secondary sexual hair 0.4944479367108101 0.861371621377557 0.3890334007439504 1.0 1.0 7 P51809 1 |
| Limitation of joint mobility 0.2789224038280842 0.8575657971681285 0.3911322680866402 1.0 1.0 73 Q9Y4R8,P11047,Q92979,Q8TD16,P35222,Q9Y2U8,P28482,O75844,Q9BPU6,Q8WXH0,O75531,Q9H2M9,Q03001,P54886,Q06124,Q12756,P37268,P08754,O00469,Q15022,Q05086,Q9BTV4 22 |
| Fasting hypoglycemia 0.7301337045424414 0.8554738382267125 0.3922888816796881 1.0 1.0 3 O43772 1 |
| Deeply set eye 0.327048865434656 0.8541459418608218 0.3930241312130511 1.0 1.0 56 Q86W42,P51571,Q9Y2R0,Q9BPU6,Q9H490,Q9BZK7,Q05086,Q96C86,P35573,P46109,Q9Y4A5,Q9UHX1,Q13868,Q9Y2U8,P28482,O14802,Q7Z6Z7 17 |
| Pulmonary fibrosis 0.37379699561609 0.8538713180026982 0.3931762931988216 1.0 1.0 16 O60832,P04062,P15924,P48506,P14174 5 |
| Abnormality of dental eruption 0.363873715893963 0.8535049213002746 0.3933793597118669 1.0 1.0 45 Q9H9B1,P61011,P21281,Q969G3,O75844,P15924,P31150,Q14683,P51798,A6NHR9,Q9H1A4,P51812,P07237,O14802,Q8TAQ2,Q5JRA6,Q9UBM7,P36776,Q9Y487 19 |
| Multifactorial inheritance 0.4346802803310798 0.8506741852389413 0.3949503670380907 1.0 1.0 10 P42892,A6NHR9 2 |
| Deep palmar crease 0.4271197295904557 0.8498452169954116 0.3954111465780157 1.0 1.0 11 Q9Y487,Q9UQ13,P21281 3 |
| Decerebrate rigidity 0.5873641415616089 0.8486331104863291 0.3960854769070134 1.0 1.0 4 P07602 1 |
| Fractures of the long bones 0.7280182232346323 0.8476268434022798 0.3966458199725264 1.0 1.0 3 P51798,Q13126 2 |
| Inflammation of the large intestine 0.4705171188770414 0.8470902093474544 0.3969448418704524 1.0 1.0 8 P08183 1 |
| Anterior open bite malocclusion 0.7777777777777821 0.8417839685325359 0.3999088870563871 1.0 1.0 2 P21281 1 |
| Hypoplastic helices 0.7777777777777787 0.8417839685325236 0.399908887056394 1.0 1.0 2 Q9UDR5 1 |
| Achilles tendon contracture 0.4319112000249324 0.8349318248517944 0.4037560948391867 1.0 1.0 10 Q8TD16,O60313,Q9BTV4 3 |
| Broad alveolar ridges 0.7759562841530099 0.8348946341113036 0.4037770362466171 1.0 1.0 2 P21281 1 |
| Talipes calcaneovalgus 0.7759562841530054 0.8348946341112863 0.4037770362466268 1.0 1.0 2 Q9H267 1 |
| Xerostomia 0.406363628881823 0.833725896541952 0.4044354616718675 1.0 1.0 13 Q14739 1 |
| Anhidrosis 0.7241541979888575 0.8333291789563106 0.4046591042677758 1.0 1.0 3 P04066 1 |
| Urinary urgency 0.5094855036325427 0.8329416069979295 0.4048776625866503 1.0 1.0 6 P04062 1 |
| Cerebellar atrophy 0.2964544491943047 0.8324096458764559 0.4051777592701424 1.0 1.0 91 Q9H9P8,O15020,O14773,P22570,P46977,P09543,O60313,Q7Z392,Q92643,Q13868,Q14108,Q13217,Q9H490,P51798,Q8TEQ6,P28331,O14802,Q12756,Q96T60,O75503 20 |
| Arnold chiari type i malformation 0.7234624145786002 0.8307743667909981 0.4061011059302344 1.0 1.0 3 Q15233,O14802 2 |
| Midface retrusion 0.2735681597718917 0.8295140351512954 0.4068135982273397 1.0 1.0 70 Q9H9B1,Q14807,Q99575,P35573,P53701,Q96J02,Q8TD16,Q16531,Q9BZK7,Q6NW34,P31150,Q14739,O75531,Q14683,Q15427,Q9H2M9,A6NHR9,P51812,P07237,Q06124,Q12756,O60566,Q8IY37,P17612,P62857,Q15029,Q9Y487,P22681 28 |
| Wheezing 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Nasal congestion 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Chronic bronchitis 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Abnormal respiratory motile cilium physiology 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Abnormal atrial arrangement 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Respiratory insufficiency due to defective ciliary clearance 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Absent outer dynein arms 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Abnormal respiratory motile cilium morphology 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Chronic sinusitis 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Absent shortened dynein arms 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Abnormal nasal mucosa morphology 0.7741347905282413 0.8280173945647429 0.4076606489513394 1.0 1.0 2 P57076 1 |
| Ulnar deviation of the hand 0.5820104114795651 0.826316115934655 0.4086247938291021 1.0 1.0 4 Q14739 1 |
| Abnormality of bone marrow cell morphology 0.3581270038060408 0.8240180231943794 0.4099293172330331 1.0 1.0 46 O60934,Q6UN15,P05166,O60832,P04062,Q9BZK7,P51798,O95453,P61011,Q9UQ13,Q9H1A4,P00374,Q14739,Q14108,P62263,Q96EY8 16 |
| Supernumerary bones of the axial skeleton 0.5437916599439505 0.8231870698035058 0.4104016207229572 1.0 1.0 5 P18583,Q9Y5S9,Q9UHX1 3 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.7211845102505824 0.8223727142547751 0.4108648037699138 1.0 1.0 3 Q9Y5P6,P11047 2 |
| Response to drugs acting on neuromuscular transmission 0.7211845102505824 0.8223727142547751 0.4108648037699138 1.0 1.0 3 Q9Y5P6,P11047 2 |
| Abnormal pupil morphology 0.4863034008734697 0.8210799938131438 0.4116007048227268 1.0 1.0 7 Q96ST3,P11047 2 |
| Cerebellar malformation 0.3602475194429037 0.8200055892927959 0.4122129208755978 1.0 1.0 45 Q15233,Q9BZK7,Q9Y5P6,O60566,Q8TAQ2,Q969G3,P21281,O43505,P36776,Q9Y2U8,Q9Y487,O14802,Q9BPU6,Q15645 14 |
| Abnormality of cardiovascular system electrophysiology 0.2750781500409091 0.819285748411507 0.4126234017424415 1.0 1.0 72 P07602,P53701,O75694,P0DP25,P15924,Q9Y5P6,Q8N3U4,P00403,P42892,Q14126,O75531,Q9H490,P04062,Q9H2M9,Q03001,O95235,O43772,Q06124,O75381,Q9BTV4 20 |
| Lipodystrophy 0.3804225797852344 0.8180322154665016 0.4133387922521865 1.0 1.0 29 O75531,P15924,P04066,Q9UN37,Q9Y487,O14802,Q14126,O75844,Q9BTV4 9 |
| Bifid uvula 0.3802895632322799 0.8170016304913648 0.4139274962636017 1.0 1.0 29 O43505,Q8N3U4,P21281,Q15392,Q13618,P78318,Q9Y619,Q9NXE4 8 |
| Abnormal lymphocyte morphology 0.3799852191389672 0.8158033635268116 0.4146126092063231 1.0 1.0 27 O60934,Q7L590,Q6PGP7,O15143,O95470,P61011,P04066,P00813 8 |
| Thin nail 0.7700364298725009 0.8125889768608524 0.4164537536661576 1.0 1.0 2 Q9H1A4 1 |
| Patchy changes of bone mineral density 0.7185260715800561 0.812588967363199 0.4164537591133646 1.0 1.0 3 Q14739 1 |
| Hyperkalemia 0.578443211226124 0.8115022741650003 0.4170772874341826 1.0 1.0 4 Q13618 1 |
| Cystic hygroma 0.484022060305589 0.8098417322460713 0.4180311440333768 1.0 1.0 7 Q14739,Q06124 2 |
| Supraventricular arrhythmia 0.4452702233254933 0.8074708822075607 0.4193952436801524 1.0 1.0 9 O95235,Q9BTV4,O75694 3 |
| Somatic mosaicism 0.7686703096539172 0.8074604683538559 0.4194012411953258 1.0 1.0 2 Q9UPY3 1 |
| Abnormal choroid morphology 0.3707441223408296 0.807388533849602 0.4194426708750973 1.0 1.0 18 P52732,O43505,P53701,P35222,Q9Y619 5 |
| Abnormal visual fixation 0.5396104184654409 0.8047278431080163 0.4209767486598514 1.0 1.0 5 Q9UN37,P04062 2 |
| Finger clinodactyly 0.3223790851185678 0.8027855579812554 0.4220986909322672 1.0 1.0 56 Q15233,Q06124,Q5JRA6,Q9Y4R8,P15924,O15294,Q8N3U4,P21281,Q96S52,P46109,Q9Y4A5,Q92979,Q9UHX1,Q9Y2U8,P28482,Q9Y619,Q05086,Q15645 18 |
| Premature rupture of membranes 0.5390691316751182 0.802343143592724 0.4223544922010935 1.0 1.0 5 Q9Y487 1 |
| Facial hemangioma 0.5760994599939059 0.8017948264016689 0.4226716518431559 1.0 1.0 4 Q9UBM7 1 |
| Cryptorchidism 0.3304354012140181 0.8017665018352516 0.4226880392314092 1.0 1.0 129 Q9H9B1,Q5H8A4,Q969G3,Q92979,P51114,O15344,P28482,P46977,Q9BZK7,Q9Y5P6,Q96S52,P51809,Q9Y4A5,P21964,O60341,P78318,Q7Z6Z7,P55011,Q9BPU6,Q15233,Q9H2M9,O95470,A6NHR9,Q9H1A4,Q96ST3,O96028,P54886,O14802,P29372,Q06124,Q8TAQ2,O60832,O15294,O60566,O43505,P37268,Q9UQ13,Q9UBM7,P36776,O96019,Q9Y487,Q15022,Q9Y619,O75381 44 |
| Broad nasal tip 0.3702352681158975 0.8015282802096492 0.422825878848891 1.0 1.0 39 Q00577,P52732,Q9BZK7,Q9H2M9,Q969G3,P35573,P21281,P35222,Q13868,Q7Z6Z7,Q9Y487 11 |
| Multiple cafe au lait spots 0.4187157873817057 0.8006941794764093 0.423308712996024 1.0 1.0 11 Q15645,O60566,Q15437,P43246 4 |
| Aplasia hypoplasia of the tragus 0.7152619589977206 0.8006086921817336 0.4233582170740733 1.0 1.0 3 A6NHR9,Q5SRE5 2 |
| Abnormality of the tragus 0.7152619589977206 0.8006086921817336 0.4233582170740733 1.0 1.0 3 A6NHR9,Q5SRE5 2 |
| Hypersplenism 0.4819762723962775 0.7997829785134284 0.4238365466644826 1.0 1.0 7 P07602,Q14108,P22681,P04062 4 |
| Bone pain 0.3737505854421684 0.7997389173378397 0.4238620798470394 1.0 1.0 21 P07602,P04062,Q9BZK7,P51798,Q9Y2U8,Q14108,Q06124 7 |
| Aplasia hypoplasia of the sternum 0.71482578802856 0.7990105882619881 0.4242842724499858 1.0 1.0 3 Q9Y619 1 |
| U shaped upper lip vermilion 0.7663934426229572 0.7989292431590286 0.4243314412576153 1.0 1.0 2 P28482 1 |
| Prominent metopic ridge 0.4434297863022326 0.7975583627459496 0.42512682165236 1.0 1.0 9 P28482 1 |
| Abnormal protein glycosylation 0.4180313896801886 0.7967108384678527 0.4256189877893335 1.0 1.0 11 P51571 1 |
| Joint hyperflexibility 0.3774938885463167 0.7953926019011223 0.4263851620501131 1.0 1.0 29 Q05086,P54886,P46109,Q9Y619,P21964,Q15022,P36776,P51812,Q15056,P28482,P07237,P22681,Q08J23,Q06124 14 |
| Absent epiphyses 0.7650273224043735 0.7938204397868638 0.4272999716368577 1.0 1.0 2 P36776 1 |
| Flattened femoral epiphysis 0.7650273224043725 0.7938204397868616 0.427299971636859 1.0 1.0 2 Q9NUQ7 1 |
| Abnormality of ocular smooth pursuit 0.3666561571197284 0.7899840302690447 0.4295370948296997 1.0 1.0 17 O14773,O14802,O15020 3 |
| Excessive wrinkled skin 0.4237763042142019 0.7889305696152608 0.4301525875388665 1.0 1.0 10 O60832,Q06124,Q9Y487,Q9BZK7 4 |
| Sparse eyelashes 0.3643367412634568 0.7863732854090453 0.4316488294965568 1.0 1.0 16 O60832,O75531,Q14574,P62304,O14802,O75844 6 |
| Aplasia hypoplasia of the eyebrow 0.3742100580294367 0.786071083606443 0.4318258438812896 1.0 1.0 34 Q14574,Q9UDR5,P62304,O75844,P15924,Q8N3U4,Q5SRE5,O60341,Q92643,Q00577,O75531,Q15427,Q9H1A4,Q9BTW9,O14802,Q08J23,P62140,Q9UQ13,P00813 19 |
| Petechiae 0.4410800650498141 0.7849297991237264 0.4324947293188745 1.0 1.0 9 Q9BZK7,P04062,P51798 3 |
| Communicating hydrocephalus 0.5349357700030872 0.7841723126782902 0.4329390089224065 1.0 1.0 5 Q92947,P11166 2 |
| Abnormality of the scrotum 0.3752210850177782 0.7839811916659403 0.4330511465876046 1.0 1.0 32 Q15555,Q9NSD9,Q9BPU6,O60566,Q14669,Q9H2M9,Q8IY37,Q8IWS0,Q9UBM7,Q9Y4A5,P51809,O96019,Q7Z6Z7,Q9Y619,P55011,P46977 16 |
| Pneumonia 0.360862187404825 0.7839451337862795 0.4330723049442944 1.0 1.0 43 O60934,Q92734,Q00577,P04062,P61011,Q9UDR5,P21281,Q969G3,Q8N3U4,P36776,P78318,Q8TAQ2 12 |
| Abnormal sperm motility 0.7105590224482212 0.7834128761000151 0.4333846973150139 1.0 1.0 3 P57076 1 |
| Acantholysis 0.5715587967183325 0.7830487801227827 0.4335984673612039 1.0 1.0 4 P14923,P16615,P15924 3 |
| Abnormal shoulder morphology 0.3669172899290058 0.7799683949878007 0.4354094784288786 1.0 1.0 18 Q7Z6Z7,P55011,O96019 3 |
| Abnormality of the ribs 0.3476598690301818 0.7770817184119349 0.437110559112406 1.0 1.0 48 Q5H8A4,O75531,P51798,P61011,P21281,O96028,Q9UBM7,Q9Y619,Q9UHX1,Q15738,Q14739,P07237,O14802,P00813,O75844,Q06124 16 |
| Retrognathia 0.3239721603167913 0.7767843997777589 0.4372859821760162 1.0 1.0 55 Q86W42,Q9Y4R8,P53701,Q16531,O75844,O60934,Q6NW34,Q15392,Q5SRE5,P78318,P04062,Q14683,Q96ST3,Q9UHX1,Q15738,O14802,Q5JRA6,P37268,Q15022,Q9Y619 20 |
| Increased circulating antibody level 0.4394442929704877 0.7761568502821159 0.4376563800898234 1.0 1.0 9 P00813,Q14108,P04062 3 |
| Clinodactyly 0.2984060266768095 0.7754030693162709 0.4381015220284414 1.0 1.0 97 Q9Y4R8,Q969G3,P21281,P46109,Q92979,Q9Y2U8,P28482,P51571,P15924,Q8N3U4,Q96S52,Q5SRE5,Q9Y4A5,O60341,P31150,Q7Z6Z7,Q15056,Q8N0X7,P55011,Q9BPU6,Q15645,Q15233,Q14683,Q96ST3,Q9UHX1,P51812,Q06124,Q8TAQ2,Q5JRA6,O15294,O60566,O96019,Q15022,Q9Y619,Q05086 35 |
| Restrictive ventilatory defect 0.4767741619628555 0.7742913720347191 0.4387585047558282 1.0 1.0 7 Q7Z392 1 |
| Telecanthus 0.3743384259679254 0.7738609103992469 0.4390130477892464 1.0 1.0 31 Q00577,Q9H490,Q16531,Q9BZK7,Q08J23,P21281,P21964,P29372,P51812,O15344,Q16134,O75844 12 |
| Soft tissue sarcoma 0.3729536890501987 0.7688379438573509 0.4419895205316648 1.0 1.0 25 O60934,Q06124,Q15437,P43246,O60566,Q969G3,P21281,Q15392,Q9UPY3,Q13126,P35222,Q15645 12 |
| Abnormal macular morphology 0.3652768488382939 0.768265881514916 0.4423292401400789 1.0 1.0 18 Q8WWY3,P04062,P35222 3 |
| Abnormality of visual evoked potentials 0.3664748511552752 0.7658960684190769 0.4437381454536293 1.0 1.0 19 Q9H2M9,O75503,O60313,P51798 4 |
| Abnormality of the frontal hairline 0.2921111426814665 0.7657515833225486 0.4438241277952244 1.0 1.0 62 O60934,Q86W42,Q5H8A4,Q9BZK7,Q9H2M9,Q6NW34,Q969G3,P21281,Q8N3U4,Q16851,O96028,O60341,Q96ST3,Q92643,O15344,P46783,P29372,Q9NXE4 18 |
| Microphallus 0.5671658383135204 0.7649925228214517 0.4442759970747469 1.0 1.0 4 Q9Y4A5 1 |
| Abnormally lax or hyperextensible skin 0.3725561301858865 0.7629943800473664 0.445466747499436 1.0 1.0 32 Q9Y487,Q9H9B1,O60832,O96000,P04062,Q9BZK7,O95453,Q6NW34,Q9UQ13,Q15904,Q15022,Q9UHX1,P51812,Q15056,P54886,Q06124 16 |
| Abnormal uvula morphology 0.3728238727127179 0.7620555452971849 0.4460268534433846 1.0 1.0 31 O43505,Q8N3U4,P21281,Q15392,Q13618,P78318,Q9Y619,Q9NXE4 8 |
| Aganglionic megacolon 0.4532746605216881 0.7582507619311931 0.4483008776492538 1.0 1.0 8 P42892 1 |
| Solitary median maxillary central incisor 0.7034626592275757 0.7576195197327514 0.4486787911831116 1.0 1.0 3 Q8N3U4 1 |
| Bone marrow hypocellularity 0.3676117082488752 0.7551846412773034 0.4501382027639047 1.0 1.0 21 O60934,O60832,O95453,P51798,P61011,Q14739 6 |
| Atrophy degeneration affecting the brainstem 0.4172993931532923 0.7525996225357875 0.4516905445366785 1.0 1.0 10 Q12756,O60313,Q9Y4A5,P26358,Q9BTW9,Q13217 6 |
| Epicanthus inversus 0.753642987249551 0.7515509086798449 0.4523211748509901 1.0 1.0 2 Q7Z6Z7 1 |
| Recurrent urinary tract infections 0.3669830335501831 0.7506486164939895 0.4528641543719516 1.0 1.0 21 Q86W42,P28482,P46109 3 |
| Flexion contracture of digit 0.3545407273700421 0.7469316812991872 0.4551048010220213 1.0 1.0 44 Q86W42,P42892,P46109,Q92979,Q7Z6Z7,P28482,O14802 7 |
| Severe cytomegalovirus infection 0.7522768670309684 0.746516653677834 0.4553553752581714 1.0 1.0 2 Q7L590 1 |
| Mastoiditis 0.7522768670309667 0.7465166536778274 0.4553553752581754 1.0 1.0 2 O60934 1 |
| Abnormality of the mastoid 0.7522768670309667 0.7465166536778274 0.4553553752581754 1.0 1.0 2 O60934 1 |
| Abnormality of the 4th metacarpal 0.7002499422502907 0.7460061005272234 0.4556637298423287 1.0 1.0 3 Q14739 1 |
| Aplasia hypoplasia of the 4th metacarpal 0.7002499422502907 0.7460061005272234 0.4556637298423287 1.0 1.0 3 Q14739 1 |
| Abnormal cortical bone morphology 0.3707950809477377 0.7451014964833871 0.4562103645267414 1.0 1.0 15 Q12756,Q15738,P42695,P51798 4 |
| Abnormality of thyroid physiology 0.3244499814096521 0.7417940378874083 0.4582121334492735 1.0 1.0 54 O60313,O95470,Q8N3U4,Q969G3,P21281,Q9H1A4,P21964,P04066,P35222,O14802,Q15645 11 |
| Abnormality of cranial sutures 0.294957867011331 0.741740991878993 0.4582442785080003 1.0 1.0 61 Q12756,Q00577,O75381,O75531,P51798,P51812,Q9UDR5,P21281,P54886,P21964,O00469,Q7Z6Z7,Q9Y2U8,Q9Y487,P28482,Q9Y619,O14802,O75844 18 |
| Down sloping shoulders 0.3813613470954892 0.7409127621322852 0.458746336910699 1.0 1.0 14 P55011,O96019 2 |
| Movement abnormality of the tongue 0.7499999999999992 0.7381452088503189 0.4604262139178761 1.0 1.0 2 P08754 1 |
| Difficulty in tongue movements 0.7499999999999992 0.7381452088503189 0.4604262139178761 1.0 1.0 2 P08754 1 |
| Limitation of movement at ankles 0.5605681924798416 0.7380322513663876 0.4604948509804691 1.0 1.0 4 Q05086 1 |
| Hyposmia 0.4144335488969139 0.7366172668001134 0.4613551315777138 1.0 1.0 10 P04062,Q06124 2 |
| Missing ribs 0.4489249941411356 0.7360846256985943 0.4616791985262669 1.0 1.0 8 Q14739,Q06124 2 |
| Abnormality of hair pigmentation 0.3568441216702223 0.7336165162729101 0.4631824919132177 1.0 1.0 16 O60832,Q6PGP7,O95453,P37268,Q13126,Q05086 6 |
| Generalized edema 0.695946810308557 0.7305164817732371 0.4650745421498081 1.0 1.0 3 Q9NSD9 1 |
| Intestinal polyp 0.3683118449902521 0.728504305078985 0.4663049342878143 1.0 1.0 15 Q15437,O60566,P43246,Q9UPY3,P35222,P42892,Q15645 7 |
| Abnormality of the metopic suture 0.4062202023918547 0.7284956320253368 0.4663102415360749 1.0 1.0 11 Q00577,Q16531,P28482 3 |
| Slender finger 0.3683434378800576 0.7261330734558792 0.4677571954899311 1.0 1.0 28 Q5H8A4,Q14807,Q969G3,P46109,P21964,Q9BZI7,Q96ST3,Q15029,O96028,P28482 10 |
| Nasogastric tube feeding in infancy 0.46666930820044 0.725165259505142 0.4683506527164875 1.0 1.0 7 P07602,Q9UHX1 2 |
| Difficulty running 0.4464037047692287 0.7232878085659672 0.4695030812852687 1.0 1.0 8 Q9Y5P6,Q8TD16,Q9BPX6,O75340 4 |
| Limited wrist movement 0.5565787218236842 0.7218276713356392 0.4704004344164019 1.0 1.0 4 P11047 1 |
| Congenital onset 0.2690617468892176 0.7207637312645219 0.4710548936025303 1.0 1.0 73 P07602,Q5H8A4,Q9Y5P6,O60508,O43505,Q96C86,P21281,P17612,O14802,Q9UHX1,Q8TD16,Q8TEQ6,P78318,Q99986,P51571,P55011,P46977 17 |
| Gynecomastia 0.38812597627115 0.7204071567678114 0.4712743448583505 1.0 1.0 13 O14802,Q15437,P51809 3 |
| Recurrent mycobacterial infections 0.6928742209589402 0.7195037881415561 0.4718305690213804 1.0 1.0 3 P57076 1 |
| Primitive reflex 0.4838674371652737 0.7133741903399003 0.4756142396683382 1.0 1.0 6 P40939,P54886,P17900 3 |
| Hypointensity of cerebral white matter on mri 0.5178987215908039 0.7100867782885173 0.4776503248360759 1.0 1.0 5 P22570 1 |
| Abnormal pulmonary interstitial morphology 0.3659081583124273 0.7098029500271524 0.4778263394688533 1.0 1.0 27 O60832,P04062,O95453,P15924,P48506,Q86Y56,P14174,P57076,Q14108 9 |
| Scrotal hypoplasia 0.3761042758915861 0.7073570276217671 0.4793446345324876 1.0 1.0 14 Q15555,Q9H2M9,Q9UBM7,Q9Y4A5,Q8IWS0,P46977 6 |
| Adducted thumb 0.3543110122044335 0.7029673976070944 0.4820760673554316 1.0 1.0 17 P42892 1 |
| Talipes equinovarus 0.3422327732689411 0.7007746158422871 0.483443681936742 1.0 1.0 47 Q12756,Q9Y487,Q5H8A4,Q9H2M9,Q15392,P11047,P54886,P21964,Q03001,Q15022,Q8TD16,O00469,O96028,P28482,Q9Y619 15 |
| Stenosis of the external auditory canal 0.4808975508194625 0.6997238932879479 0.4840997519220196 1.0 1.0 6 O96028,P55011 2 |
| Hypokalemia 0.4808638120147157 0.6995691111282782 0.4841964385142625 1.0 1.0 6 Q9H3U1 1 |
| Deep plantar creases 0.5153372702467147 0.699074144060682 0.4845056960884144 1.0 1.0 5 Q9Y487,P21281 2 |
| Widely spaced teeth 0.3642503561150246 0.697512576313264 0.4854820716887098 1.0 1.0 27 Q15233,P51571,Q9BZK7,Q14683,Q96S52,P21281,O60341,Q96ST3,Q9BTW9,P51812,P28482,Q05086 12 |
| Flat face 0.3636381580565702 0.6974698188855081 0.485508820889367 1.0 1.0 15 Q9H9B1,Q15555,Q14807,Q96C86,P36776,Q9Y487,O75381 7 |
| Patent ductus arteriosus 0.2816074035076839 0.6971388122606653 0.4857159268150295 1.0 1.0 63 Q15233,Q86W42,P0DP25,Q6PGP7,Q8TAQ2,Q969G3,Q8N3U4,Q15392,P11172,Q9Y4A5,P21964,Q9UHX1,P78318,P42892,P51571,P43897,O75844,Q06124 18 |
| Abnormal internal genitalia 0.2791780126770463 0.6969293497587777 0.4858470090830318 1.0 1.0 84 Q86W42,P43246,Q9UPY3,P53701,P35222,Q16531,O75844,O60934,P51809,P21964,P52701,Q15056,Q15645,Q92878,Q14683,Q15427,O95453,Q9H1A4,Q8WX93,P51812,O96028,Q06124,Q9NR50,O60832,Q13144,Q15437,O60566,Q5JTZ9,Q9UBM7,P36776 30 |
| Hypoplastic aortic arch 0.686527467664734 0.696886577094993 0.4858737786985359 1.0 1.0 3 Q9UHX1 1 |
| Low hanging columella 0.4244234721331778 0.6963942710219551 0.4861819498529189 1.0 1.0 9 Q86W42 1 |
| Dry skin 0.3612107109807086 0.6939474877753796 0.4877151412508282 1.0 1.0 23 Q06136,P37268,P04066,P28482,Q9NYB0 5 |
| Macroglossia 0.3633248233404246 0.6937825113613196 0.4878186117817269 1.0 1.0 26 Q9H9B1,Q15437,P10253,Q9Y5P6,Q99575,P21281,Q96S52,P04066,Q05086 9 |
| Multicystic kidney dysplasia 0.399739216295069 0.6915424256295093 0.4892247288161762 1.0 1.0 11 Q15645,Q9UBM7,O75381,O60566 4 |
| Abnormalities of placenta or umbilical cord 0.3995525884970907 0.6904838945839246 0.4898899346046779 1.0 1.0 11 P21281,O75844 2 |
| Abnormality of upper limb joint 0.2732674077652429 0.6891352596984041 0.4907381530007679 1.0 1.0 79 Q99575,P11047,P46109,Q92979,Q9NUQ7,P28482,Q15392,P42892,Q15233,Q9H1A4,P54886,O14802,Q06124,P37268,Q9UQ13,P36776,O00469,Q9Y619,Q9BTV4 19 |
| Type 2 muscle fiber atrophy 0.6842807922736536 0.6889240863745243 0.4908710410365806 1.0 1.0 3 P11047 1 |
| Scleroderma 0.5127241884875907 0.6878768188518279 0.491530355579189 1.0 1.0 5 Q14739 1 |
| Positional foot deformity 0.2904008943744697 0.6876904478098336 0.491647736575092 1.0 1.0 61 Q5H8A4,P11047,Q8TD16,P28482,Q15392,Q9H267,P21964,Q9H2M9,Q03001,Q9UHX1,O96028,P54886,Q12756,Q9UBM7,P36776,O00469,Q9Y487,Q15022,Q9Y619 19 |
| Lacrimation abnormality 0.3914518291111218 0.6876895412292586 0.4916483075982667 1.0 1.0 12 Q03001,P55011,Q7Z392 3 |
| Microdontia 0.3502263197119273 0.6876284352423943 0.4916867969279304 1.0 1.0 16 Q9H1A4,Q9Y487,P28482,Q9Y619 4 |
| Bird like facies 0.5125874119182801 0.6872917777963354 0.4918988791159082 1.0 1.0 5 Q92878 1 |
| Nephrotic syndrome 0.3591105680049159 0.6861233530810604 0.4926353256954954 1.0 1.0 22 O95470,P11047,P51809 3 |
| Cyclopia 0.7349726775956338 0.6835227102753166 0.494276604755999 1.0 1.0 2 Q8N3U4 1 |
| Panhypopituitarism 0.7349726775956338 0.6835227102753166 0.494276604755999 1.0 1.0 2 Q8N3U4 1 |
| Abnormal dura mater morphology 0.7349726775956338 0.6835227102753166 0.494276604755999 1.0 1.0 2 Q8N3U4 1 |
| Median cleft lip 0.7349726775956338 0.6835227102753166 0.494276604755999 1.0 1.0 2 Q8N3U4 1 |
| Unilateral ptosis 0.7349726775956326 0.6835227102753121 0.4942766047560019 1.0 1.0 2 Q9UHX1 1 |
| Severe demyelination of the white matter 0.6821313295791122 0.6813282391438895 0.4956638186612641 1.0 1.0 3 Q9H9P8 1 |
| Congenital diaphragmatic hernia 0.3521580451827483 0.6759501550750625 0.4990722923995494 1.0 1.0 18 Q5H8A4,Q14683,Q8N3U4,Q9UBM7,P53701,Q9Y4A5,Q96ST3,O96028 8 |
| Rhabdomyosarcoma 0.4561227305095455 0.674522420386561 0.4999792365864539 1.0 1.0 7 O60934,Q9UPY3,Q15645 3 |
| Neoplasm of striated muscle 0.4561227305095455 0.674522420386561 0.4999792365864539 1.0 1.0 7 O60934,Q9UPY3,Q15645 3 |
| Ectopic anus 0.4202424392874386 0.6744803884610332 0.5000059498989411 1.0 1.0 9 Q15022,P53701 2 |
| Wide nasal ridge 0.5089883607290778 0.6719363166955524 0.5016242392119619 1.0 1.0 5 O14802,Q9BZK7 2 |
| Ventricular preexcitation 0.679366163242372 0.6715890810255569 0.5018453314091746 1.0 1.0 3 P00403 1 |
| Eeg with focal spikes 0.5088769988644761 0.671462403622485 0.5019260023932168 1.0 1.0 5 O75503,P36776,Q5H8A4 3 |
| Blue irides 0.4554516506208659 0.6713242640982966 0.5020139805320953 1.0 1.0 7 Q05086 1 |
| Pollakisuria 0.6792710706150463 0.6712548163048843 0.502058213443779 1.0 1.0 3 O60934,P54886 2 |
| Pes valgus 0.4359406043866334 0.6706289573335849 0.5024569305629312 1.0 1.0 8 P36776,Q9UHX1 2 |
| Abnormality of the thyroid gland 0.2717088982423168 0.6682256353513033 0.5039895740311708 1.0 1.0 79 P43246,Q969G3,P21281,Q9UPY3,P35222,Q16531,O60313,Q8N3U4,P21964,P04066,P00403,Q13868,P52701,Q15056,P42892,Q15645,O95470,Q9H1A4,Q15738,O14802,Q8TAQ2,Q15437,Q6PGP7,O60566,P00813 25 |
| Prominent nasal bridge 0.3607165814412498 0.6679997463565961 0.5041337543985573 1.0 1.0 30 O60934,Q15233,P42892,Q5JRA6,P31939,Q14683,Q15427,Q9H2M9,P46109,Q9Y4A5,P21964,Q96ST3,P78318,Q9Y2U8,P28482,Q15738 16 |
| Hypopituitarism 0.3589492791848126 0.6661617862324221 0.5053076954674931 1.0 1.0 25 Q8N3U4,P61011,Q969G3,P35222,O14802 5 |
| Incomplete penetrance 0.3572933738306806 0.6659218796214886 0.5054610346751551 1.0 1.0 23 Q8WWY3,P52732,Q6P2Q9,O60313,O95453,Q969G3,P35222 7 |
| Delayed eruption of permanent teeth 0.6776775975337304 0.6656601350034249 0.5056283598545692 1.0 1.0 3 P21281 1 |
| Sparse hair 0.2881344736859373 0.6611138699138435 0.5085392910955882 1.0 1.0 61 Q14574,Q99575,Q969G3,P62304,O75844,P15924,Q6NW34,P51809,O60341,Q13868,O75531,O95453,Q9H1A4,P54886,O14802,Q8TAQ2,O60832,Q9UQ13,Q9Y487 19 |
| Soft skin 0.4532600075753457 0.6609011402347043 0.5086757147886458 1.0 1.0 7 P21281,Q13126 2 |
| Neoplasm of the male external genitalia 0.4337342282632297 0.6596241648496975 0.5094950430442651 1.0 1.0 8 P51809 1 |
| Unusual infection 0.3377551246208461 0.6593642509134305 0.5096618926600622 1.0 1.0 151 Q86W42,Q9H9B1,P07602,Q5H8A4,P00813,Q9H9P8,P61011,Q969G3,P11047,P46109,Q9UDR5,P35222,P28482,Q16531,O60934,P29144,Q9NSD9,Q9BZK7,O15143,Q6NW34,Q16851,P04066,P57076,P78318,Q14739,Q00577,P04062,Q9H490,P51798,O95453,Q9H2M9,P11166,P11172,Q9H1A4,P14174,Q96ST3,Q9UN37,O95235,O96028,O14802,Q8TAQ2,Q12756,O60832,Q6UN15,Q7L590,Q6PGP7,P48506,Q9UBM7,Q86Y56,P36776,Q9Y487,P62263,P02786 53 |
| Arthritis 0.3595299728115344 0.6591002387706809 0.5098314023625072 1.0 1.0 30 P04062,P51798,Q14108,P21964,P14174,Q9Y2U8,Q14739,Q9NUQ7,P08237 9 |
| Aplasia hypoplasia of the cerebral white matter 0.4333179279500836 0.6575519237889359 0.5108260957000135 1.0 1.0 8 O60341,P00403,P22570 3 |
| Abnormal heart sound 0.5401302581390488 0.6558831530877252 0.5118993086079595 1.0 1.0 4 Q01082,P10253 2 |
| Abnormal auditory evoked potentials 0.5046968740181512 0.6537279156590007 0.5132871148900171 1.0 1.0 5 O60313 1 |
| Diffuse white matter abnormalities 0.432161845546597 0.6518042675563923 0.5145274482849453 1.0 1.0 8 Q96T60 1 |
| Chronic axonal neuropathy 0.7249544626593805 0.6477642503474834 0.5171374409589262 1.0 1.0 2 O15269 1 |
| Anteriorly placed anus 0.4504832732557819 0.6477441011757114 0.5171504751905132 1.0 1.0 7 Q15022,P53701 2 |
| Cessation of head growth 0.4693024578381065 0.6469394852480507 0.5176711095489428 1.0 1.0 6 Q9NR50,Q05086 2 |
| Anal stenosis 0.7244990892531901 0.646152250785503 0.5181807594268362 1.0 1.0 2 O60934 1 |
| Abnormal meningeal morphology 0.3473397116212137 0.642689465799672 0.5204256177431268 1.0 1.0 18 Q14683,Q9Y5P6,Q8N3U4,P21964,Q96ST3,Q9UHX1 6 |
| B lymphocytopenia 0.4677697045384337 0.6400272349602883 0.5221548934243294 1.0 1.0 6 O60934,Q7L590 2 |
| Abnormal hair pattern 0.2851927032505573 0.6396462539775757 0.5224026043821368 1.0 1.0 94 Q86W42,Q5H8A4,Q969G3,P21281,O15344,P28482,O75844,O60934,Q9BZK7,Q6NW34,Q8N3U4,Q16851,O60341,Q92643,Q7Z6Z7,P55011,Q9BPU6,Q9NXE4,Q9H2M9,P11166,Q96ST3,O96028,P46783,P29372,Q06124,O15294,Q9UQ13,O96019 28 |
| Downslanted palpebral fissures 0.2931522829316881 0.6396205107576842 0.522419344607084 1.0 1.0 102 Q5H8A4,P21281,P28482,O75844,P52732,Q15392,P21964,O60341,P31150,P78318,Q7Z6Z7,Q8N0X7,P55011,Q9BPU6,Q9NXE4,Q15645,Q15233,Q00577,Q14683,Q15427,Q9H2M9,P11172,Q96ST3,P51812,O96028,P07237,O14802,Q06124,P62140,O75340,O60566,Q6PGP7,Q9UQ13,Q9UBM7,P62857,Q15022,Q15029,O96019,Q96F07,Q9Y487,O95319,P22681,Q05086 43 |
| Decreased muscle mass 0.3902136262234257 0.6379509045988663 0.5235056395314115 1.0 1.0 11 P04066 1 |
| Abnormal circulating citrulline concentration 0.6696733907708591 0.6377516078037692 0.5236353852702451 1.0 1.0 3 Q9Y619 1 |
| Mitral stenosis 0.6696687994083833 0.637735694511598 0.5236457458159602 1.0 1.0 3 P04062 1 |
| Aortic valve calcification 0.6696687994083833 0.637735694511598 0.5236457458159602 1.0 1.0 3 P04062 1 |
| Duodenal atresia 0.466426357336976 0.6339825120292273 0.5260922350719697 1.0 1.0 6 Q8N3U4,Q15645 2 |
| Muscle fiber tubular inclusions 0.7208561020036488 0.6332997689442275 0.5265379041594964 1.0 1.0 2 Q9Y5P6 1 |
| Single fiber emg abnormality 0.7208561020036488 0.6332997689442275 0.5265379041594964 1.0 1.0 2 Q9Y5P6 1 |
| Aspiration 0.4282137999936 0.6322560761073115 0.5272195601911236 1.0 1.0 8 O15344,P29372 2 |
| Macular thickening 0.4987664660903982 0.6287575661486728 0.529507784409164 1.0 1.0 5 Q8WWY3,P35222 2 |
| Focal onset seizure 0.2606855273572492 0.6257761154246346 0.5314618000930436 1.0 1.0 66 Q12756,P07602,Q00577,O60508,Q96C86,Q969G3,P21281,Q96S52,Q96T60,O75503,P00403,O14802,Q9UBB6,Q9NUQ7,P55011,Q9BPU6,P15311 17 |
| Gastrointestinal atresia 0.3807345622232891 0.6255244666692984 0.5316268955427321 1.0 1.0 12 Q15645,Q96ST3,Q8N3U4,O60566 4 |
| Male pseudohermaphroditism 0.7185792349726843 0.6253069196199048 0.5317696393402636 1.0 1.0 2 P53701 1 |
| Aplasia hypoplasia of the cerebellar vermis 0.322856412131571 0.6250621879585485 0.5319302435691924 1.0 1.0 51 Q9H490,O60566,Q9Y5P6,Q9H2M9,Q8TAQ2,Q969G3,P21281,O43505,Q9Y4A5,O14802,Q9UN37,Q9Y487,P22570,Q9BPU6,Q15645 15 |
| Abnormal circulating estrogen level 0.3877815445059354 0.6244199676906763 0.5323518150167552 1.0 1.0 11 Q969G3,P51809 2 |
| Abnormal ossification involving the femoral head and neck 0.665096551212308 0.6219449942544246 0.5339780376980037 1.0 1.0 3 Q14739 1 |
| Contractures of the joints of the upper limbs 0.340149021891597 0.6206592995759874 0.5348238139805734 1.0 1.0 44 P37268,Q15392,P46109,Q92979,O00469,P42892,P28482,O14802,Q9BTV4 9 |
| Hyperreflexia in upper limbs 0.4622083815681868 0.6150863529276052 0.5384976941407782 1.0 1.0 6 Q8WVX9,P54886,P10809,P07384 4 |
| Undetectable visual evoked potentials 0.6628701594533232 0.6142974676215002 0.5390187756635014 1.0 1.0 3 Q9H2M9,Q86YH6 2 |
| Eyelid myoclonus 0.4243873712098186 0.6134336229034464 0.5395896597580812 1.0 1.0 8 P00374 1 |
| Accessory oral frenulum 0.7149362477231371 0.612583900015893 0.5401515064595233 1.0 1.0 2 P17612 1 |
| Underdeveloped tragus 0.714936247723132 0.6125839000158728 0.5401515064595366 1.0 1.0 2 Q5SRE5 1 |
| Osteopenia 0.3081017486167069 0.6110236312702264 0.5411839359354651 1.0 1.0 55 P07602,P57678,Q5JRA6,Q9H490,P04062,P61011,P54886,P17612,Q13126,Q9H1A4,O00469,Q9Y487,Q14108,O14802 14 |
| Abnormal eyelid physiology 0.4942507105614107 0.6099018681393532 0.5419268149372538 1.0 1.0 5 O15160,Q99497 2 |
| Premature ovarian insufficiency 0.3385988071143648 0.6084634257241689 0.5428801562599017 1.0 1.0 16 Q9NR50,Q86W42,Q9H1A4 3 |
| Reduced systolic function 0.6608423505808941 0.607356312222002 0.543614474768219 1.0 1.0 3 P15924 1 |
| Cardiac conduction abnormality 0.3488032861732373 0.6061072350595108 0.5444435469077908 1.0 1.0 23 O75531,Q9H490,P0DP25,Q9BTV4,P00403,O43772,Q06124 7 |
| Abnormal placental size 0.5272631492934752 0.6053985986416373 0.5449141819428698 1.0 1.0 4 O75844 1 |
| Airway obstruction 0.3771805800214851 0.6052068820560822 0.5450415436476133 1.0 1.0 12 P21964,P57076,Q86Y56,O75844 4 |
| Abnormality of the hallux 0.3503597227161849 0.6038876069312958 0.5459183688266789 1.0 1.0 35 Q15233,Q5H8A4,P04062,Q14683,Q15427,P21281,O96028,Q96J02,Q9UHX1,O96019,Q7Z6Z7,Q15056,P55011,P04792,Q9BPU6 15 |
| Lymphopenia 0.3432478032259536 0.6035636688936216 0.5461337735251803 1.0 1.0 19 O60934,Q7L590,Q6PGP7,O95470,P61011,P00813 6 |
| Short nail 0.5264115770615645 0.60209535959176 0.5471106632374632 1.0 1.0 4 Q9Y487 1 |
| Abnormal aortic valve physiology 0.3517927576819382 0.6017604401515422 0.5473336115744682 1.0 1.0 30 Q9H9B1,P04062,Q6PGP7,O60566,Q9UQ13,P54886,P46109,Q9UHX1,P28482,O75844,Q15645 11 |
| Arrhinencephaly 0.4590577678319494 0.6010578127184123 0.5478014808587321 1.0 1.0 6 P21964 1 |
| Blepharophimosis 0.3514283319696458 0.6009343936044715 0.5478836842438413 1.0 1.0 32 Q86W42,P46109,O96019,Q7Z6Z7,P28482,Q9Y619,P55011 7 |
| Brisk reflexes 0.3392127932028355 0.5996015142957781 0.5487718377245547 1.0 1.0 17 O60508,P09543,P54886,Q8TEQ6 4 |
| Aplasia of the semicircular canal 0.7108378870674028 0.5983694405122436 0.5495934518386516 1.0 1.0 2 Q06124 1 |
| Morphological abnormality of the vestibule of the inner ear 0.7108378870674028 0.5983694405122436 0.5495934518386516 1.0 1.0 2 Q06124 1 |
| Lipoatrophy 0.3387772155787084 0.596678586996976 0.5507219915851735 1.0 1.0 17 O14802,P04066,O75531,P15924 4 |
| Lower eyelid coloboma 0.5249861409093561 0.5965772024995473 0.550789695663471 1.0 1.0 4 Q15427,O15160 2 |
| Elevated serum acid phosphatase 0.5245762070295182 0.5949928587764463 0.5518482444971093 1.0 1.0 4 P51798 1 |
| Microretrognathia 0.4046646780636112 0.5941609195513758 0.5524044885719828 1.0 1.0 9 Q15738,Q96ST3,Q9UHX1,Q9Y4R8 4 |
| Arnold chiari malformation 0.3475658092706497 0.593087586369274 0.553122537670028 1.0 1.0 15 Q15233,Q9BZK7,Q9Y2U8,Q15056,O14802 5 |
| Recurrent otitis media 0.3416491659220843 0.592726800935572 0.5533640022000876 1.0 1.0 19 Q9UBM7,Q9H1A4,Q86Y56,P57076,Q14739,P28482,O14802,P00813,Q16531 9 |
| Abnormal heart valve physiology 0.2550418628329625 0.5919132186133909 0.5539087016906143 1.0 1.0 69 P46109,P53701,P28482,P55263,O75844,P15924,Q15645,Q15233,P04062,O95453,Q9UHX1,Q13618,O95235,P51812,P54886,O14802,Q06124,Q6PGP7,O60566,Q9UQ13,P00813 21 |
| Pointed chin 0.3483119470059339 0.5904239965372619 0.5549064265955859 1.0 1.0 25 Q86W42,P52732,P46109,P28482,O14802 5 |
| Narrow nose 0.4888870794434262 0.5876945334412472 0.5567373454691653 1.0 1.0 5 Q9Y4A5 1 |
| Abnormal uvea morphology 0.2535430414922497 0.5868028445562148 0.5573361261581078 1.0 1.0 68 P52732,Q05086,Q9Y5P6,O43505,A6NHR9,P11047,Q7Z392,P53701,P14174,Q9UHX1,P35222,P78318,P28482,Q9Y619,O75381,Q15645 16 |
| Increased circulating prolactin concentration 0.4883143400643644 0.585335775465399 0.558321963964109 1.0 1.0 5 Q969G3,P35222 2 |
| Breast carcinoma 0.3460056301896614 0.5831749859891291 0.5597755083785743 1.0 1.0 15 O60934,Q92878,Q15437,P43246,Q8WX93,P35222 6 |
| Short nose 0.2597652801817924 0.58182752987947 0.5606828585663735 1.0 1.0 74 Q9H9B1,Q969G3,Q5KU26,Q16531,O75844,Q9BZK7,Q15392,Q9Y4A5,Q7Z6Z7,Q15056,P42892,Q00577,Q9H490,P04062,Q9H2M9,Q96ST3,Q9UHX1,Q8TAQ2,Q12756,O60566,Q96C86,Q9UQ13,P36776,Q9Y487 24 |
| Abnormal circulating follicle stimulating hormone concentration 0.4541846474748368 0.5795118724677897 0.5622438380130554 1.0 1.0 6 P51809 1 |
| Retinal hemorrhage 0.4864063814835088 0.577496107846352 0.5636043671420938 1.0 1.0 5 Q92947,Q9Y487 2 |
| Ankylosis 0.5199178189715978 0.5770719694738513 0.5638908389025463 1.0 1.0 4 O75844 1 |
| Abnormal larynx morphology 0.3407680735420024 0.5764619103431553 0.5643030083205436 1.0 1.0 20 P07602,Q14807,P21964,Q9UHX1,Q14739,O14802 6 |
| Abnormal muscle fiber protein expression 0.4531247606838105 0.5748511203672892 0.5653919900757889 1.0 1.0 6 Q9Y5P6,Q9BTV4 2 |
| Abnormality of the skull base 0.3364211032491028 0.5729065667795711 0.5667079580685321 1.0 1.0 43 Q9Y487,Q9H490,O60566,O43505,Q8TAQ2,Q969G3,P21281,Q9UHX1,Q14739,P54886,O14802,Q9BPU6,Q15645 13 |
| Abnormality of the columella 0.3783593869936015 0.5726522138650192 0.5668801988276861 1.0 1.0 11 Q86W42,P35222 2 |
| Abnormal growth hormone level 0.3386405420904391 0.5724695010006147 0.5670039424115223 1.0 1.0 19 O14802,P61011,Q969G3 3 |
| Abnormal eating behavior 0.3442442320089766 0.5720359488313684 0.5672976204866249 1.0 1.0 15 Q969G3,Q05086 2 |
| Fetal akinesia sequence 0.4845901715713686 0.5700595974161697 0.5686372769135859 1.0 1.0 5 P04062 1 |
| Splenomegaly 0.2711059456256417 0.5700214438434569 0.5686631539241667 1.0 1.0 63 P07602,P29144,O60832,Q15437,P04062,Q6PGP7,P51798,O95453,P11166,Q15392,P21281,P11172,P21964,P14174,P04066,Q14739,Q14108,P00813 18 |
| Neoplasm of fatty tissue 0.4336167607274143 0.5691190134997064 0.5692753759521394 1.0 1.0 7 Q15437 1 |
| Lumbar scoliosis 0.6490850304402089 0.5675869594675931 0.5703154639909 1.0 1.0 3 P21281 1 |
| Abnormality of metacarpal epiphyses 0.5173836526957167 0.5673888503956052 0.5704500233095637 1.0 1.0 4 P51812 1 |
| Simplified gyral pattern 0.3449222914888278 0.5667724896574664 0.5708687635596315 1.0 1.0 25 P52732,O60508,Q8TAQ2,Q969G3,Q5KU26,Q96T60,Q9NXE4 7 |
| Cavum septum pellucidum 0.4330893282289576 0.5666994624380204 0.5709183861437317 1.0 1.0 7 P28482 1 |
| Primary peritoneal carcinoma 0.517057657642337 0.5661466660394547 0.5712940823491108 1.0 1.0 4 Q92878 1 |
| Prostate neoplasm 0.517057657642337 0.5661466660394547 0.5712940823491108 1.0 1.0 4 Q92878 1 |
| Abnormal tongue morphology 0.3272069378453824 0.5656627756110192 0.5716230446172741 1.0 1.0 47 Q9H9B1,Q05086,Q15437,Q9Y4R8,P10253,Q9Y5P6,Q9H2M9,Q99575,P08754,P21281,Q96S52,P46109,Q9UBM7,P04066,P28482,O75844 16 |
| Reduced forced expiratory volume in one second 0.7012750455373429 0.5656279416484432 0.5716467291962066 1.0 1.0 2 O95453 1 |
| Anti thyroid peroxidase antibody positivity 0.7012750455373413 0.5656279416484377 0.5716467291962104 1.0 1.0 2 P00813 1 |
| Embryonal neoplasm 0.3390580957873161 0.5649469309140784 0.5721098610338451 1.0 1.0 20 Q6PGP7,Q8TAQ2,Q969G3,Q9UPY3,P51809,Q15645 6 |
| Aplasia hypoplasia involving the carpal bones 0.5165747393168156 0.5643079967853637 0.5725445400711244 1.0 1.0 4 P54886 1 |
| Carpal bone hypoplasia 0.5165747393168156 0.5643079967853637 0.5725445400711244 1.0 1.0 4 P54886 1 |
| Abnormal cerebellar vermis morphology 0.2918448565231777 0.560147387855858 0.5753789098320481 1.0 1.0 58 Q12756,Q9H490,O60566,Q9Y5P6,Q9H2M9,Q8TAQ2,Q969G3,P21281,Q96S52,O43505,Q9Y4A5,O14802,Q9UN37,Q9Y487,P22570,Q9BPU6,Q15645 17 |
| Coloboma 0.3456954784215963 0.5585642531392954 0.5764591419995861 1.0 1.0 32 Q5H8A4,Q9Y5P6,Q9H2M9,A6NHR9,O43505,Q7Z392,P53701,Q96ST3,Q9UHX1,P78318,O96028 11 |
| Abnormal full field electroretinogram 0.4816738492172562 0.5581733321300495 0.5767260292552701 1.0 1.0 5 Q15555 1 |
| Abnormal light and dark adapted electroretinogram 0.4816738492172562 0.5581733321300495 0.5767260292552701 1.0 1.0 5 Q15555 1 |
| Wormian bones 0.3415212332798508 0.5549278712116837 0.5789439972032056 1.0 1.0 15 Q12756,O00469,Q9Y487,P54886,O75844 5 |
| Reticulocytosis 0.3749879152335342 0.5544002685875737 0.5793049423210379 1.0 1.0 11 P48506,P08237,Q15437,P51798 4 |
| Synovitis 0.6436067193060975 0.549348008338281 0.5827666468030985 1.0 1.0 3 O14802 1 |
| Death in adolescence 0.69626593806922 0.5487265432880178 0.5831931276020501 1.0 1.0 2 P15924 1 |
| Abnormal ovarian physiology 0.3333442945112443 0.5484693980054636 0.5833696362735841 1.0 1.0 18 Q9NR50,Q86W42,O75844,Q9H1A4 4 |
| Toe clinodactyly 0.3294329498465179 0.5477919531156374 0.5838347645455553 1.0 1.0 16 Q9BPU6,Q9BZI7,P31150,O96019,P51812,P55011,Q7Z6Z7 7 |
| Exertional dyspnea 0.3401118079927105 0.5461278628340971 0.5849780482823652 1.0 1.0 15 O95453,Q9BZK7,P15924,P11047,O75844 5 |
| Abnormal bone structure 0.3087639093468614 0.5438036441851347 0.5865766008434226 1.0 1.0 127 P07602,Q5H8A4,P61011,Q13126,P35222,Q9Y2U8,Q9NUQ7,O75844,P57678,Q15392,P42695,P51809,Q14739,Q14108,Q15645,O75531,P04062,Q9H490,P51798,O95453,Q9H1A4,Q15738,O96028,P54886,P07237,O14802,Q9H3U1,Q12756,O60832,Q5JRA6,Q15437,O60566,P17612,P36776,O00469,Q9Y487,Q9Y619,O75381 38 |
| Abnormality of toe 0.29611566508836 0.543602884615004 0.5867147743307142 1.0 1.0 113 Q86W42,Q5H8A4,Q9Y4R8,Q969G3,P21281,P46109,P28482,O75844,Q9BZK7,P15924,P21964,P31150,Q7Z6Z7,Q15056,Q14739,Q8N0X7,P55011,Q9P2J5,Q9BPU6,Q15233,P04062,Q14683,Q15427,Q9H2M9,Q96ST3,Q9UHX1,Q15738,P51812,O96028,O14802,P04792,Q12756,Q5JRA6,P37268,Q96C86,Q9UBM7,Q15022,O96019,Q96T60,P51149,P00813 41 |
| Premature birth 0.3428926074818102 0.5430556928535877 0.5870914575589607 1.0 1.0 34 O75381,P04062,P51798,P46109,P28482,P22570,O75844,Q9NXE4 8 |
| Abnormal temper tantrums 0.4276304052907766 0.541810445934783 0.587949094532304 1.0 1.0 7 P04062 1 |
| Hypoplastic labia minora 0.5105676133901444 0.5415854696167097 0.5881041038843366 1.0 1.0 4 Q9H2M9 1 |
| Clitoral hypoplasia 0.5105676133901444 0.5415854696167097 0.5881041038843366 1.0 1.0 4 Q9H2M9 1 |
| Recurrent aspiration pneumonia 0.4449147615401718 0.5390738514009378 0.5898358974993658 1.0 1.0 6 P04062,P78318 2 |
| Sensorimotor neuropathy 0.3389425642283871 0.5384505151869974 0.5902660596935119 1.0 1.0 23 Q12756,P07602,Q92734,Q9Y2R0,O60313,Q96T60,Q13217 7 |
| Progressive cerebellar ataxia 0.3398799316909097 0.5379868822595842 0.5905861048473522 1.0 1.0 24 Q9Y487,P19404,P28331,O15020,O14773,Q9Y619 6 |
| Thickened helices 0.426496131915015 0.5366750393598468 0.5914921005265292 1.0 1.0 7 P62140,Q96S52,Q06124 3 |
| Sparse or absent eyelashes 0.3382675857454893 0.5338985428933343 0.5934117302457453 1.0 1.0 23 O60832,O75531,Q14574,Q9H1A4,O14802,P62304,O75844 7 |
| Abnormal fingernail morphology 0.3402152234741529 0.5322495638764642 0.5945531591608246 1.0 1.0 36 Q12756,O60832,O95453,Q08J23,Q8TAQ2,Q969G3,P21281,Q9UQ13,P51812,Q15056,Q15022,O75844,Q14739 13 |
| Late onset 0.4430003168439624 0.5308177009093054 0.5955451126641105 1.0 1.0 6 Q9Y6M1 1 |
| Gastrointestinal inflammation 0.3561382756694325 0.5305452569083126 0.5957339394883476 1.0 1.0 13 O15143,P08183 2 |
| Functional abnormality of male internal genitalia 0.3352892207288545 0.5303153807795461 0.5958932843950606 1.0 1.0 21 P57076,P04062,P51809 3 |
| Abnormality of facial adipose tissue 0.5072779480422137 0.5292625791009385 0.5966233107144814 1.0 1.0 4 O14802 1 |
| Limb girdle muscular dystrophy 0.4068279023183325 0.5288132043162187 0.5969350369477899 1.0 1.0 8 Q7Z392,Q9BTV4 2 |
| Abnormal conjunctiva morphology 0.3374802892520693 0.5286027263520634 0.5970810686233425 1.0 1.0 23 O60832,Q15437,P50747,P04066,Q14739 5 |
| Periventricular white matter hyperintensities 0.4067608239211544 0.5284960218961449 0.5971551074281605 1.0 1.0 8 P07602,O75503,P09543 3 |
| Respiratory tract infection 0.300354935192385 0.5278625782594445 0.5975947196275764 1.0 1.0 119 P07602,P00813,Q5H8A4,P61011,Q969G3,P11047,P46109,P21281,Q9UDR5,P28482,O60934,Q92734,Q6NW34,Q8N3U4,Q16851,P04066,P57076,P78318,Q00577,P04062,P51798,O95453,Q9H2M9,P11172,P14174,O95235,O96028,O14802,Q8TAQ2,Q12756,O60832,P48506,Q86Y56,P36776,Q9Y487,P02786 36 |
| Acquired abnormal hair pattern 0.5064691934142154 0.5262465124965318 0.5987169408728981 1.0 1.0 4 O75844 1 |
| Abnormality of the dentition 0.3374826955119183 0.5240458560496585 0.6002466459313798 1.0 1.0 165 Q86W42,Q5H8A4,Q99575,P61011,Q969G3,P21281,P53701,Q9Y2U8,P28482,P51571,O75844,Q9BZK7,P15924,Q6NW34,Q8N3U4,Q96S52,P21964,O60341,P04066,Q92643,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15233,Q00577,O75531,P51798,O95453,Q9H2M9,A6NHR9,Q9H1A4,Q96ST3,Q9UHX1,Q15738,O96028,P51812,P07237,O14802,Q06124,Q8TAQ2,O60832,Q5JRA6,P08754,Q9UQ13,P17612,Q9UBM7,P36776,O96019,Q96F07,Q9Y487,O95319,Q9Y619,Q05086 54 |
| Vitritis 0.6885245901639423 0.5229610653501099 0.6010013479687042 1.0 1.0 2 P53701 1 |
| Abnormal eyebrow morphology 0.3026161658487609 0.5224656562845458 0.601346152550684 1.0 1.0 122 Q9H9B1,Q5H8A4,Q14574,Q969G3,P21281,Q9UDR5,P46109,Q5KU26,Q9Y2U8,P28482,P62304,Q16531,O75844,P15924,Q6NW34,Q8N3U4,Q16851,Q96S52,Q5SRE5,Q9Y4A5,O60341,P04066,Q92643,Q7Z6Z7,P55011,Q9BPU6,Q9NXE4,Q00577,O75531,Q14683,Q15427,O95453,A6NHR9,Q9H1A4,Q96ST3,Q9UHX1,Q9BTW9,P51812,O96028,O14802,Q08J23,Q8TAQ2,O60832,O15294,Q9UQ13,O96019,Q96F07,P00813 48 |
| Wide nose 0.3406608786346504 0.5220344520103584 0.6016463432731005 1.0 1.0 32 P52732,Q5H8A4,Q6PGP7,Q9BZK7,P51812,Q969G3,P21281,P53701,Q96ST3,P04066,Q9Y2U8,Q15645 12 |
| Chronic otitis media 0.3361490339738261 0.5215956330320054 0.6019519044927717 1.0 1.0 15 Q5H8A4,P21964,Q86Y56,P57076,O96028 5 |
| Poor motor coordination 0.3739419858039151 0.5189704007677964 0.6037813823511005 1.0 1.0 10 Q9Y5P6,O75503,Q92947 3 |
| Hypoplasia of the brainstem 0.3301171221027681 0.5161296333479115 0.6057638723405092 1.0 1.0 19 Q9Y5P6,O60508,O43505,Q9NXE4 4 |
| Macular purpura 0.367804266282231 0.516035763582732 0.605829431066178 1.0 1.0 11 Q9BZK7,P04062,P51798 3 |
| External ear malformation 0.3732308123431636 0.5153180272486411 0.6063308036877442 1.0 1.0 10 Q12756,Q00577,O75381 3 |
| Abnormal circulating androgen level 0.3609901374954181 0.5148396037780543 0.6066651080389716 1.0 1.0 12 Q969G3,P51809 2 |
| Dilated fourth ventricle 0.3389553760620346 0.5141063237459172 0.6071776564054865 1.0 1.0 34 O60566,Q9Y5P6,O43505,Q8TAQ2,Q969G3,P21281,Q9Y487,O14802,Q9BPU6,Q15645 10 |
| Focal motor seizure 0.3261450308778971 0.5136029739065701 0.607529599948488 1.0 1.0 17 Q00577,O75503 2 |
| Chylothorax 0.5026326754747876 0.5120133273623191 0.6086416822023368 1.0 1.0 4 Q06124 1 |
| Colpocephaly 0.4385460585784299 0.5117422988857621 0.6088313782595158 1.0 1.0 6 O60341,Q8N3U4,P53701 3 |
| Flattened epiphysis 0.6320685540865126 0.5115858611306875 0.6089408828839815 1.0 1.0 3 Q9NUQ7 1 |
| Abnormality of lower lip 0.2978714870890347 0.5091206456590072 0.6106676612471147 1.0 1.0 55 Q86W42,P52732,P04062,Q9H2M9,Q969G3,P21281,Q9UQ13,P04066,Q7Z6Z7,Q9Y619,Q06124 11 |
| Joint subluxation 0.4694293689569849 0.5090482064223886 0.6107184346811438 1.0 1.0 5 Q9UHX1 1 |
| Atrophy degeneration involving the spinal cord 0.5017566405477585 0.5087807878288855 0.6109058874396671 1.0 1.0 4 Q13217 1 |
| Contractures involving the joints of the feet 0.3233665766898795 0.5086119131332295 0.611024276894204 1.0 1.0 16 P14923,Q8WXH0,O60313,P15924,Q08J23,Q8TD16,Q8IWS0,Q9BTV4 8 |
| Aplasia hypoplasia of the ovary 0.3874331573672289 0.5082376305701869 0.6112867035921259 1.0 1.0 9 P51809 1 |
| Supernumerary tooth 0.468902252102426 0.506963252571338 0.6121806027656307 1.0 1.0 5 P21281,Q9UHX1 2 |
| Loss of ability to walk 0.3871484203230093 0.5068476872610822 0.6122616934343974 1.0 1.0 9 Q9H269 1 |
| Fibrous tissue neoplasm 0.3249889421154575 0.5061762331076537 0.6127329379917223 1.0 1.0 17 Q15392,Q15437,Q969G3,P35222 4 |
| Flat occiput 0.3712276143864373 0.5050685172780758 0.6135107127582329 1.0 1.0 10 Q9Y2U8,O75381,P52732,Q05086 4 |
| Pruritus 0.324430525246182 0.5026003375836083 0.6152452918854032 1.0 1.0 17 Q9H3U1,Q14739,Q5JRA6,P15924 4 |
| Red eye 0.3222517240625892 0.5015035223040232 0.6160167995441919 1.0 1.0 16 P50747,O60832,Q14739 3 |
| Widely patent fontanelles and sutures 0.6284963353095829 0.5000830791672984 0.6170165800786633 1.0 1.0 3 O14802 1 |
| Lagopthalmos 0.6284963353095829 0.5000830791672984 0.6170165800786633 1.0 1.0 3 O14802 1 |
| Hypoplastic toenails 0.3306947092400665 0.5000637432743832 0.6170301945738039 1.0 1.0 21 Q9Y4R8,Q969G3,P21281,Q9UQ13,O60341,Q15056,Q15022,Q08J23,Q8TAQ2 9 |
| Progressive peripheral neuropathy 0.6284219874596699 0.4998446547163343 0.6171844650758018 1.0 1.0 3 P07602 1 |
| Biliary tract neoplasm 0.6284219874596699 0.4998446547163343 0.6171844650758018 1.0 1.0 3 P07602 1 |
| Neoplasm of the gallbladder 0.6284219874596699 0.4998446547163343 0.6171844650758018 1.0 1.0 3 P07602 1 |
| Vegetative state 0.6284219874596699 0.4998446547163343 0.6171844650758018 1.0 1.0 3 P07602 1 |
| Abnormality of neuronal migration 0.2924953946149315 0.49892031829522 0.6178355195290222 1.0 1.0 113 Q969G3,P21281,Q5KU26,Q13885,Q8TD16,Q9UBB6,Q9NUQ7,O60934,P52732,Q9BZK7,Q9Y5P6,Q15392,P42695,Q9H267,Q9Y4A5,P55011,Q9NXE4,O60508,Q9H2M9,Q9UN37,Q15738,P51812,O14802,Q8TAQ2,Q12756,O43505,P37268,Q96C86,Q9UBM7,Q15022,P36776,Q9UPN3,Q9Y487,Q96T60,O75381,P15311 36 |
| Limited elbow movement 0.3343645692246149 0.4948202066232311 0.6207270394884343 1.0 1.0 25 Q8WXH0,Q14807,Q14683,P37268,P54886,O00469,P28482,Q9BTV4,Q06124 9 |
| Abnormal left ventricle morphology 0.3231278038685572 0.4942874639035668 0.6211031772621549 1.0 1.0 17 Q15233,Q06124,O60566,P00403,Q15645 5 |
| Low frustration tolerance 0.4169543128901168 0.4939991024444496 0.6213068133692321 1.0 1.0 7 Q6Y7W6,Q9UHX1,P04062 3 |
| Exercise intolerance 0.3309332631023269 0.492969231573892 0.6220343279254219 1.0 1.0 22 Q9Y2R0,Q9H2D1,Q9Y5P6,Q92947,P08237 5 |
| Abnormal subcutaneous fat tissue distribution 0.6262621324091795 0.4929359527678612 0.622057842684199 1.0 1.0 3 Q9Y487 1 |
| Low back pain 0.6789617486338859 0.4917591347028665 0.6228896285807632 1.0 1.0 2 P54886 1 |
| Atresia of the external auditory canal 0.356709019101828 0.4916184291114667 0.6229891128387843 1.0 1.0 12 Q14683,Q15427,A6NHR9,P21281,Q9Y619 5 |
| Truncal ataxia 0.3565976308208739 0.4910183756280377 0.62341345093746 1.0 1.0 12 O75503,O14802,O15020 3 |
| Abnormal labia minora morphology 0.4335459081641439 0.4905616753283388 0.6237364981859312 1.0 1.0 6 Q9H2M9 1 |
| Tetraplegia 0.3680666681329523 0.4890132729853479 0.6248322999932012 1.0 1.0 10 P54886,Q92734,Q96T60,O43681 4 |
| Restrictive cardiomyopathy 0.6247949069387644 0.4882624302884565 0.6253639691052855 1.0 1.0 3 O95235 1 |
| Conspicuously happy disposition 0.6775956284153033 0.4873605652770327 0.6260028342857751 1.0 1.0 2 Q96ST3 1 |
| Low set posteriorly rotated ears 0.3018844822641889 0.485374047586297 0.6274110383020388 1.0 1.0 53 Q15555,Q5H8A4,P28482,Q15392,Q15056,Q15645,P04062,Q14683,Q15427,Q9H2M9,P11172,O96028,Q08J23,Q06124,P62140,O60566,P37268,P08754,Q9UQ13,Q9UBM7,Q15022,P22681,O75381 23 |
| Abnormal circulating sulfur amino acid concentration 0.4633888343554266 0.4853122867065907 0.6274548411922538 1.0 1.0 5 P55263,Q9UDR5 2 |
| Abnormal circulating aspartate family amino acid concentration 0.4633888343554266 0.4853122867065907 0.6274548411922538 1.0 1.0 5 P55263,Q9UDR5 2 |
| Rod cone dystrophy 0.3348402752177866 0.4851069573713459 0.6276004770907266 1.0 1.0 28 Q8WWY3,Q6P2Q9,Q9Y4R8,P57076,Q13868,P22570,O75381 7 |
| Shyness 0.6766848816029214 0.4844365686808798 0.628076071058395 1.0 1.0 2 Q15233 1 |
| Abnormal tracheal morphology 0.3341395664745474 0.4837925534808369 0.6285331003610235 1.0 1.0 27 O60832,Q9H9B1,Q14807,O95453,Q9H2M9,Q9UBM7,Q9Y4A5,Q14739,P55011,Q92990 10 |
| Abnormal cornea morphology 0.2855518663577545 0.4830347049401781 0.6290710945784392 1.0 1.0 107 Q8WWY3,P53701,Q06136,P52732,Q9BZK7,Q9Y5P6,P50747,P21964,P04066,Q13868,Q7Z6Z7,Q14739,P55011,Q15645,Q6P2Q9,P04062,Q9H2M9,Q03001,P54886,O14802,Q12756,O43505,Q9UQ13,O96019,O75381 25 |
| Eeg with focal epileptiform discharges 0.3349443039374316 0.4817201069605963 0.6300047904726416 1.0 1.0 30 Q5H8A4,Q96C86,Q96T60,O75503,P36776,Q9UBB6,Q9NUQ7,P55011,Q05086,P15311 10 |
| Abnormal cry 0.4141009650545462 0.4814292729248935 0.6302114358836415 1.0 1.0 7 P11047 1 |
| Syndactyly 0.2982627501538222 0.4810479980556315 0.6304823857712487 1.0 1.0 54 Q9Y4R8,P21281,P46109,Q9Y2U8,P28482,P15924,P31150,P55011,Q14683,Q15427,P11166,Q96ST3,Q9UHX1,P51812,O14802,P37268,Q9UBM7,Q15022,Q9Y619,Q05086 20 |
| Hypodontia 0.3346213239094391 0.4791323734635616 0.6318444603508686 1.0 1.0 32 O60832,Q5H8A4,O95453,P51812,Q99575,P21281,Q9Y2U8,O96028,O95319,O14802,O75844 11 |
| Hypoplastic fifth toenail 0.3957818049188749 0.477282746505448 0.6331607952414928 1.0 1.0 8 Q969G3 1 |
| Hip subluxation 0.4131421570468159 0.4772262750825916 0.6332010028978148 1.0 1.0 7 Q6NW34,Q9UBM7 2 |
| Abnormality of the hairline 0.2557989219636585 0.4765747246946232 0.6336649851608778 1.0 1.0 78 Q86W42,Q5H8A4,Q969G3,P21281,O15344,P28482,O60934,Q9BZK7,Q6NW34,Q8N3U4,Q16851,O60341,Q92643,Q7Z6Z7,Q9NXE4,Q9H2M9,Q96ST3,O96028,P46783,P29372,Q06124,Q9UQ13 22 |
| Infantile spasms 0.3293818125177089 0.4750217421851578 0.6347714762993077 1.0 1.0 23 Q12756,O60508,Q96T60,P36776,Q13618,P28482 6 |
| Clubbing 0.3461573018135402 0.4745013604454274 0.6351424280605036 1.0 1.0 13 O95453,P57076,P15924 3 |
| Hypoplastic female external genitalia 0.3598087942463208 0.4742500524473699 0.6353216046334478 1.0 1.0 11 Q9H2M9,Q9Y619 2 |
| Overtubulated long bones 0.6199723149018826 0.4730154342697187 0.6362021677814125 1.0 1.0 3 P21281 1 |
| Short lingual frenulum 0.6199723149018826 0.4730154342697187 0.6362021677814125 1.0 1.0 3 P21281 1 |
| Skeletal muscle hypertrophy 0.3332731414126018 0.4709012989898129 0.6377112203720221 1.0 1.0 33 P50570,Q9H9B1,Q15437,P10253,Q9Y5P6,Q99575,P21281,Q96S52,P04066,O14802,Q05086 11 |
| Severe viral infection 0.4911347567252542 0.4701273250171143 0.6382640528458783 1.0 1.0 4 Q7L590 1 |
| Disproportionate short trunk short stature 0.4911220712432577 0.4700817794556484 0.6382965913027483 1.0 1.0 4 Q9UHX1 1 |
| Corticospinal tract hypoplasia 0.6716757741347897 0.4684763131867575 0.6394440060622746 1.0 1.0 2 P11177 1 |
| Abnormal tracheobronchial morphology 0.3265336971056886 0.4683882336674504 0.6395069808394953 1.0 1.0 41 O60934,P29144,Q9H9B1,O60832,Q14807,P15924,O95453,Q9H2M9,Q9UBM7,Q9UPY3,Q9Y4A5,Q86Y56,P57076,Q14739,P55011,Q92990 16 |
| Tube feeding 0.2999540759722445 0.4675688154526827 0.6400929699871489 1.0 1.0 53 Q15233,P07602,Q12756,Q9H490,P37268,Q96C86,Q8N3U4,Q9UDR5,Q9H1A4,P36776,Q9UHX1,Q9UBB6,Q9NUQ7,P55011,P15311 15 |
| Retinal detachment 0.3578672074085656 0.4642594739281926 0.642461855340275 1.0 1.0 11 O43505,P52732,P35222 3 |
| Progeroid facial appearance 0.4268099975938592 0.4624404616388079 0.6437654891436064 1.0 1.0 6 O14802 1 |
| Abnormal thoracic spine morphology 0.3261866029196247 0.4622175874374886 0.6439252921864784 1.0 1.0 22 Q6NW34,P04062 2 |
| Increased susceptibility to fractures 0.3280453499870684 0.461460419189497 0.6444683123653545 1.0 1.0 39 Q12756,Q9H3U1,O60832,P04062,P51798,O95453,P17612,Q13126,P35222,O00469,Q9Y2U8,Q14739,Q14108,P07237 14 |
| Bilateral tonic clonic seizure with focal onset 0.6153116111231494 0.4584509245006619 0.6466285126180686 1.0 1.0 3 P07602 1 |
| Recurrent pneumonia 0.3153485678154128 0.4581702829088347 0.6468301080186436 1.0 1.0 16 O60934,Q00577,Q9UDR5,P78318,P00813 5 |
| Sparse eyebrow 0.330076512401539 0.4566434106171941 0.6479273716229343 1.0 1.0 27 P62140,Q00577,O75531,Q14574,P15924,Q08J23,Q8N3U4,Q5SRE5,O60341,O14802,Q92643,Q9BTW9,P62304,O75844 14 |
| Thick nasal alae 0.3615585049242342 0.4564343964663742 0.6480776360692979 1.0 1.0 10 P51812,P11166,Q969G3 3 |
| Hypoplasia of the iris 0.6144614826235928 0.4558128093984159 0.6485245921151823 1.0 1.0 3 P11047 1 |
| Fluctuations in consciousness 0.4252034222900683 0.4558064632605911 0.648529155998411 1.0 1.0 6 P04062 1 |
| Abnormality of the fontanelles or cranial sutures 0.2519706314371648 0.455686741880152 0.6486152572008965 1.0 1.0 76 Q9UDR5,P21281,Q9Y2U8,P28482,O75844,Q6NW34,P21964,Q7Z6Z7,Q9BPU6,Q00577,O75531,P51798,P51812,P54886,O14802,Q12756,O00469,Q9Y487,Q9Y619,O75381 20 |
| Neonatal respiratory distress 0.3206193943333029 0.4553884593937397 0.6488297963789793 1.0 1.0 19 P61011,P57076,Q9NXE4 3 |
| Abnormal ldl cholesterol concentration 0.3908485044220738 0.4547542932899488 0.6492860161141252 1.0 1.0 8 P37268,Q9BTV4 2 |
| Hypoplasia of teeth 0.3250010987563766 0.4543869004059899 0.6495503791337887 1.0 1.0 15 A6NHR9,P36776,P55011 3 |
| Abnormal prostate morphology 0.4553168240051456 0.4541536764586157 0.6497182218012776 1.0 1.0 5 Q92878 1 |
| Ovarian neoplasm 0.3167197136185703 0.4540176412158125 0.6498161295547604 1.0 1.0 17 O60934,Q92878,P43246,Q9UPY3,P51809,Q8WX93,P35222,P52701 8 |
| Skin tags 0.3248844552918954 0.4536987995894992 0.650045631042532 1.0 1.0 15 Q15427,P08754,Q8N3U4,Q96S52,Q15029,Q9UHX1,O96028 7 |
| Abnormality of the antihelix 0.3758195431338774 0.4524341955538057 0.6509562170037264 1.0 1.0 9 Q9H2M9,Q9UDR5,Q08J23,Q5SRE5 4 |
| Juvenile aseptic necrosis 0.454299008570744 0.4502724616894777 0.6525139930509232 1.0 1.0 5 Q9H3U1,Q9Y619 2 |
| Genital neoplasm 0.3287590148316154 0.4479428871017062 0.654194415611252 1.0 1.0 27 O60934,Q92878,Q15437,P43246,O60566,Q9UPY3,P51809,Q8WX93,P35222,Q15645 10 |
| Motor axonal neuropathy 0.359806173100329 0.4477776264882815 0.6543136919463497 1.0 1.0 10 O15269,Q7Z392,O60313 3 |
| Abnormal dermoepidermal junction morphology 0.6118451025056912 0.4477301172536986 0.6543479832226586 1.0 1.0 3 P14923,P15924 2 |
| Hypovolemic shock 0.6648451730418989 0.4470531370427678 0.654836694089385 1.0 1.0 2 P15924 1 |
| Shock 0.6648451730418989 0.4470531370427678 0.654836694089385 1.0 1.0 2 P15924 1 |
| 3 4 finger syndactyly 0.6648451730418989 0.4470531370427678 0.654836694089385 1.0 1.0 2 P15924 1 |
| Bilateral external ear deformity 0.6648451730418989 0.4470531370427678 0.654836694089385 1.0 1.0 2 P15924 1 |
| 2 3 finger syndactyly 0.6648451730418989 0.4470531370427678 0.654836694089385 1.0 1.0 2 P15924 1 |
| Convex nasal ridge 0.332762316254507 0.4459764989354727 0.6556142219436318 1.0 1.0 14 O60934,O75531,Q5SRE5,O96028,O14802,O75844 6 |
| Aplasia hypoplasia of the clavicles 0.3888930616196641 0.4459133598134961 0.655659831432508 1.0 1.0 8 Q15738,Q9Y619 2 |
| Gingival overgrowth 0.3235363991926872 0.4453150654866898 0.6560920820012381 1.0 1.0 22 Q12756,Q6UN15,Q9BZK7,Q96S52,P21281,Q9UBM7,Q14739 7 |
| Thin ribs 0.3541305358169383 0.4452142744104085 0.6561649120156874 1.0 1.0 11 Q9Y619,O14802,O75844 3 |
| Dyskinesia 0.3028784152051582 0.441994538235448 0.6584931582352951 1.0 1.0 51 Q12756,Q00577,P04062,O95319,P43246,Q96F07,P11166,Q96C86,Q96T60,Q9BTV4,Q9BPX6,Q9UBB6,P52701,Q9NUQ7,P55011,Q6Y7W6,P15311 17 |
| Abnormal visual electrophysiology 0.3276479635800504 0.4401704028169871 0.6598136943402397 1.0 1.0 36 Q8WWY3,Q6P2Q9,O60313,P51798,Q9H2M9,O14773,O75503,Q04837 8 |
| Abnormal sella turcica morphology 0.4826800364630928 0.4401160760932073 0.6598530390634945 1.0 1.0 4 Q96AX1,O00754,P16278 3 |
| Broad columella 0.6625683060109369 0.4400019706702224 0.6599356800249476 1.0 1.0 2 Q13868 1 |
| Aplasia cutis congenita of scalp 0.4515842972281574 0.4399745516434485 0.6599555388995917 1.0 1.0 5 Q5H8A4 1 |
| Irregular vertebral endplates 0.6091038403052491 0.4393214297134589 0.6604286486016351 1.0 1.0 3 O14802 1 |
| Broad neck 0.3527881473040073 0.4384325435486252 0.6610727597454884 1.0 1.0 11 P62140,P11166,Q8IY37,P62857,P78318 5 |
| Delayed myelination 0.2761124199397329 0.4376701035693832 0.6616254445893035 1.0 1.0 59 P57678,Q00577,Q92947,Q9H490,O60508,Q96S52,Q9Y4A5,O60341,P35222,Q9UBB6,Q13868,Q13618,Q96T60,P22570,Q05086,P00374 16 |
| Facial asymmetry 0.3255134142753916 0.4367504633248996 0.6622923276824029 1.0 1.0 25 Q00577,Q14683,P08754,Q8IY37,P46109,Q96ST3,Q9UHX1,Q9UPN3,O96028,P28482 10 |
| Autoamputation 0.4506813645641951 0.4365670528548376 0.6624253610335877 1.0 1.0 5 Q12756,P51149 2 |
| Abnormal number of teeth 0.290217189701674 0.4361185104549212 0.6627507477407562 1.0 1.0 55 O60832,Q5H8A4,P15924,O95453,P51812,Q99575,Q8N3U4,P21281,Q6NW34,Q9UBM7,Q9H1A4,Q9UHX1,Q7Z6Z7,Q9Y2U8,O96028,O95319,O14802,O75844 18 |
| Hepatoblastoma 0.3722185989961177 0.4355241338200714 0.6631820252288614 1.0 1.0 9 Q969G3,Q8TAQ2 2 |
| Irregular epiphyses 0.4813672842157673 0.4355197654996715 0.663185195279463 1.0 1.0 4 Q9NUQ7 1 |
| Abnormality of the ureter 0.3158500255040392 0.435370687597457 0.6632933833792536 1.0 1.0 45 Q9H3U1,Q9H9B1,Q16531,P42695,P11172,Q9Y4A5,Q9UBM7,P21964,P36776,Q9UHX1,Q15056,Q96T60,O14802,O75844 14 |
| Gastroesophageal reflux 0.262763175829835 0.4343500137050993 0.6640342904573702 1.0 1.0 88 O15269,P07602,Q9H9B1,P21281,Q9UDR5,O15344,P28482,P51571,Q16531,P57678,Q9NSD9,P15924,Q6NW34,Q8N3U4,P21964,Q15056,Q14739,P55011,Q15233,O95453,Q9UHX1,O96028,P54886,P29372,Q12756,Q9UBM7,P36776,P82930,Q96F07,O95319,Q9Y619 31 |
| Joint laxity 0.2757801397523352 0.4343127074160113 0.6640613773163726 1.0 1.0 59 Q5H8A4,Q14807,Q9Y4R8,Q969G3,P28482,Q16531,Q9NSD9,Q9BZK7,Q9Y5P6,Q96S52,Q15233,Q9H2M9,Q96ST3,Q9UHX1,Q8TAQ2,Q96C86,Q9UQ13,P36776,Q9Y487,Q9Y619 20 |
| Woolly hair 0.4500441023460495 0.4341675172818344 0.6641667992341138 1.0 1.0 5 Q96A33,Q6PGP7,P15924 3 |
| Thoracic aortic aneurysm 0.3202414337971214 0.4332637630831158 0.6648231605415158 1.0 1.0 21 O75844,O96019,Q7Z6Z7,Q15056,P55011,Q9BPU6 6 |
| Incoordination 0.3018737541573652 0.4332477360170291 0.6648348026934414 1.0 1.0 51 P04062,P11047,O75503,O15020,Q7Z6Z7,O14773,Q9Y619,O14802,Q05086 9 |
| Bulbar signs 0.3565488155719996 0.4318216693272944 0.6658710289681375 1.0 1.0 10 P07602,Q92734,P04062 3 |
| Tonic seizure 0.3181473048765966 0.4297121755029873 0.6674050255131021 1.0 1.0 20 Q12756,Q00577,Q96T60,Q13618 4 |
| Limited elbow extension 0.4018978541700883 0.428761936098858 0.6680964820866866 1.0 1.0 7 Q15427,P28482 2 |
| Raynaud phenomenon 0.4485821441502199 0.4286796319055613 0.6681563852880934 1.0 1.0 5 Q14739 1 |
| Narrow nasal ridge 0.418225074295824 0.4273351909848639 0.6691352044878551 1.0 1.0 6 P54886,O14802 2 |
| Drowsiness 0.4011103876792269 0.425427525723757 0.6705250437613488 1.0 1.0 7 Q12756,P36776 2 |
| Chromosomal breakage induced by ionizing radiation 0.4784500793609902 0.4253689817796471 0.6705677141183488 1.0 1.0 4 Q92878 1 |
| Right bundle branch block 0.4175986649045956 0.4248076857849673 0.6709768744045084 1.0 1.0 6 P62140,O75531,Q9H490 3 |
| Akinesia 0.3840203973502279 0.42411212740662 0.6714840414713716 1.0 1.0 8 P51114,P04062 2 |
| Hip contracture 0.4005863090084673 0.4232129084751823 0.6721399295665145 1.0 1.0 7 Q8TD16 1 |
| Abnormal hand bone ossification 0.4776079207484944 0.4224550015616092 0.6726929389245748 1.0 1.0 4 P36776 1 |
| Global brain atrophy 0.3134075186031767 0.4218610940517616 0.6731264093306721 1.0 1.0 18 Q9H9P8 1 |
| Adrenal hypoplasia 0.4160153840066004 0.4184406250502874 0.6756249892798014 1.0 1.0 6 Q15738 1 |
| Prominent superficial blood vessels 0.3827348554666601 0.4184164664731256 0.6756426493629313 1.0 1.0 8 Q9Y487,P54886,O14802 3 |
| Cortical dysplasia 0.321314757407292 0.41631354487664 0.6771805824066432 1.0 1.0 24 O43505,Q96C86,Q96ST3,Q9UBB6,Q9NUQ7,P55011,P15311 7 |
| Hyperlipidemia 0.3222902243689025 0.4161727957741862 0.6772835648322371 1.0 1.0 25 Q92734,Q7L590,O95470,P35573,O14802,O75844,Q9BTV4 7 |
| Lower extremity joint dislocation 0.291233956154574 0.4161590380416191 0.6772936313278826 1.0 1.0 54 Q14807,Q9Y4R8,Q8TD16,O75844,P57678,Q9Y5P6,Q8N3U4,P21964,Q15056,P55011,Q9BPU6,Q14683,Q15427,Q9UHX1,Q15738,O96028,P54886,Q9UBM7,P36776,Q9Y487 20 |
| Reduced visual acuity 0.2591018950749971 0.4151511984403013 0.678031221489644 1.0 1.0 86 P07602,Q8WWY3,Q969G3,P11047,P53701,Q9H061,P35222,P22570,P52732,O60313,Q9Y5P6,P19404,Q6P2Q9,P51798,A6NHR9,Q9UHX1,P28331,Q9NR50,O15294,O43505,P36776 21 |
| Generalized onset seizure 0.2528218362628732 0.4146722019162472 0.6783818846552903 1.0 1.0 80 P07602,Q9H9B1,O95239,Q9BZI7,Q9UBB6,Q96N66,P28482,Q9NUQ7,Q8IYI6,Q9ULM3,P31150,Q9HA77,Q14204,Q14108,P55011,Q00577,P04062,Q14683,P11166,Q9BTW9,P00374,P51812,O14653,Q08J23,Q12756,O60566,Q96C86,Q96T60,Q9Y619,O75503,Q05086,P15311 32 |
| Abnormal 3rd finger morphology 0.6539162112932619 0.4136317745953611 0.6791437992496498 1.0 1.0 2 Q14683 1 |
| Aortic valve stenosis 0.3815938616260008 0.4133813614167739 0.6793272281397096 1.0 1.0 8 Q9H9B1,P04062,O75844 3 |
| Aplasia hypoplasia of the lungs 0.3196819406463829 0.4131967062140131 0.6794625011521491 1.0 1.0 23 Q5H8A4,O96000,P25705,O96028,Q9UBM7,Q15738,Q14739,Q16134,O75844 9 |
| Syncope 0.3815436428915455 0.4131601892245776 0.6794892536554087 1.0 1.0 8 Q969G3,P0DP25 2 |
| Abnormality of the nasal dorsum 0.3214294249319547 0.4128410192880896 0.6797230960992082 1.0 1.0 39 O60934,Q06124,O75531,Q6PGP7,Q9BZK7,O60566,Q8N3U4,Q9UDR5,Q5SRE5,Q15022,O96028,P54886,O14802,O75844,Q15645 15 |
| Genu valgum 0.3206872459071179 0.4123729909317982 0.6800660565901928 1.0 1.0 24 Q14807,P51798,Q6NW34,Q16851,P17612,P36776,Q15056,Q9Y619 8 |
| Abnormality of the sense of smell 0.3266977688797198 0.4122700400665016 0.6801415055176152 1.0 1.0 14 Q969G3,P04062,Q06124 3 |
| Ectopic calcification 0.3187752560230004 0.4099002371454165 0.6818791314125323 1.0 1.0 41 O00584,O60832,O75381,O60313,P04062,O95453,P11166,P00403,P35222,Q15738,Q14739,O75844 12 |
| Absence of subcutaneous fat 0.4432704957425013 0.4089437166459171 0.6825809659386601 1.0 1.0 5 O14802 1 |
| Abnormal shape of the palpebral fissure 0.3801702686692761 0.4071260695570682 0.6839153971631373 1.0 1.0 8 Q15738,P28482,Q9UHX1 3 |
| Hypoplastic fifth fingernail 0.396631435440015 0.4066191059755181 0.6842877623868568 1.0 1.0 7 Q969G3 1 |
| Abnormal csf protein level 0.3796917969559567 0.4050304319776204 0.6854551417694388 1.0 1.0 8 P07602,P00403,P55011 3 |
| Abnormality of the spleen 0.2592671638496276 0.4049768452422484 0.6854945311494323 1.0 1.0 87 P07602,P10619,P21281,Q9Y2U8,P29144,Q15392,P21964,P04066,P57076,Q14739,Q14108,P04062,P51798,O95453,P11166,P11172,P14174,Q8WX93,O96028,Q06124,O60832,Q15437,Q7L590,Q6PGP7,P48506,Q86Y56,P00813 27 |
| Hip dislocation 0.3078382701947 0.4030927656290619 0.6868799823932461 1.0 1.0 47 Q9Y487,P57678,Q9BPU6,Q14807,Q9Y4R8,Q14683,Q9Y5P6,Q15427,Q8N3U4,Q9UBM7,P36776,Q9UHX1,Q8TD16,Q15738,O96028,P54886,P55011,O75844 18 |
| Abnormality of the 1st metacarpal 0.4120934265107586 0.4028029512119465 0.6870931899067552 1.0 1.0 6 Q15233 1 |
| Kinetic tremor 0.3177901878200616 0.4014659852672064 0.6880770764856194 1.0 1.0 23 Q15233,Q14108,O14802,O15020 4 |
| Bladder neoplasm 0.5960788027523711 0.4002361336213225 0.6889826030707624 1.0 1.0 3 P35222 1 |
| Leiomyosarcoma 0.5960788027523711 0.4002361336213225 0.6889826030707624 1.0 1.0 3 P35222 1 |
| Tapered distal phalanges of finger 0.6489071038251419 0.3986810755967653 0.6901282137441553 1.0 1.0 2 P15924 1 |
| Pulmonary hemorrhage 0.3945852925134114 0.3981178014051887 0.6905433530365774 1.0 1.0 7 Q9BZK7 1 |
| Dyslexia 0.394349615714023 0.3971423602653831 0.6912624840757842 1.0 1.0 7 P48506,Q96T60 2 |
| Prolonged partial thromboplastin time 0.5949886104783552 0.3970319856551887 0.6913438738517499 1.0 1.0 3 P28288,Q7Z2Z2 2 |
| Abnormal heart valve morphology 0.285865431294139 0.3960443868572965 0.692072283713582 1.0 1.0 55 Q15233,Q5H8A4,P04062,O15294,P51798,P37268,P54886,P53701,P21964,Q9UHX1,P51812,O96028,P28482,O14802,O75844,Q06124 16 |
| Cervical ribs 0.5945330296127607 0.3956961691826645 0.6923291818861341 1.0 1.0 3 Q9Y5S9,Q9UHX1 2 |
| Thick corpus callosum 0.6475409836065655 0.3946449641255928 0.6931049248076637 1.0 1.0 2 Q15233 1 |
| Cardiovascular calcification 0.3934792101286753 0.3935466210779447 0.6939157973339443 1.0 1.0 7 P04062 1 |
| Lymphoma 0.3143022880479503 0.3927082753151022 0.6945349579078046 1.0 1.0 15 O60934,O60832,P52732,O95453,P52701,P00813 6 |
| Abnormality of the diaphragm 0.3119885407735265 0.3921445145368789 0.6949514383103836 1.0 1.0 20 Q5H8A4,Q14683,Q8N3U4,Q9UBM7,Q9Y4A5,P53701,Q96ST3,O96028 8 |
| Low alkaline phosphatase 0.5931089024019038 0.3915325638552389 0.69540362340956 1.0 1.0 3 Q92643 1 |
| Narrow forehead 0.3206045732615579 0.3909043738961048 0.6958679208079253 1.0 1.0 36 Q00577,Q9H490,Q16851,Q9UQ13,P28482,P55011,Q9NXE4 7 |
| Facial cleft 0.4680948040109497 0.3900664891109633 0.696487381835488 1.0 1.0 4 Q8NCM8,O15160,Q13428 3 |
| Cerebral white matter hypoplasia 0.3925967239003852 0.389911932590344 0.6966016699651476 1.0 1.0 7 O60341,P22570 2 |
| Squamous cell carcinoma 0.3617538502450401 0.3875428100926406 0.6983543982549538 1.0 1.0 9 Q9H1A4 1 |
| Partial agenesis of the corpus callosum 0.3755102069669214 0.3868637594727103 0.6988570718859832 1.0 1.0 8 O60508,Q15392 2 |
| Abnormal elasticity of skin 0.3056810723548975 0.3859887282376539 0.6995050167343426 1.0 1.0 47 Q9H9B1,Q14807,P21281,Q13126,O75844,Q9BZK7,Q6NW34,Q15056,P04062,O95453,Q9UHX1,P51812,P54886,Q06124,O60832,Q9UQ13,P17612,Q9Y487,Q15022 19 |
| Hyperconvex fingernails 0.466753591494172 0.3855804764721697 0.6998073947124988 1.0 1.0 4 P51812 1 |
| Abnormality of circulating fibrinogen 0.3752102402089222 0.3855709584481954 0.6998144449520274 1.0 1.0 8 Q7L590,Q9BZK7 2 |
| Craniosynostosis 0.3177754484440459 0.3823231592260258 0.7022216785540369 1.0 1.0 26 P62140,P51798,Q08J23,Q9UDR5,P21281,Q9Y619,P21964,Q9Y2U8,P07237,Q8IYI6,Q7Z6Z7 11 |
| Abnormality of the midface 0.2871303193428972 0.3814530853202559 0.7028670767656551 1.0 1.0 118 Q9H9B1,Q14807,Q99575,P35573,P46109,P53701,Q96J02,Q8TD16,P28482,Q16531,O60934,P52732,Q9BZK7,Q6NW34,Q8N3U4,Q96S52,P21964,P31150,Q9P2J5,Q14739,Q8N0X7,Q15233,Q00577,O75531,Q9H490,Q14683,Q15427,Q9H2M9,A6NHR9,Q9UHX1,Q15738,P51812,P54886,O96028,O14802,P07237,Q06124,Q12756,P62140,O60566,P08754,Q8IY37,P17612,P62857,Q15029,Q9Y487,P22681 47 |
| Generalized joint laxity 0.360334696820005 0.3811765075711957 0.7030722798469342 1.0 1.0 9 Q9Y487,P36776,Q9UHX1 3 |
| Abnormality of alkaline phosphatase level 0.320907553772696 0.3809206336913302 0.7032621412417057 1.0 1.0 14 Q14739,Q92643,P51798 3 |
| Ragged red muscle fibers 0.3409464206331722 0.3800809542424198 0.7038853231137894 1.0 1.0 11 Q9Y5P6,Q5JPH6,Q70HW3,Q9H2D1 4 |
| Papule 0.3279774322065881 0.3775611108337144 0.7057566588879545 1.0 1.0 13 Q9Y2U8,Q15437,Q92990 3 |
| Abnormal sternal ossification 0.5881276262818167 0.3771153055488139 0.7060879173273258 1.0 1.0 3 Q9Y619 1 |
| Chronic lung disease 0.3891018245371375 0.3756276756477441 0.7071937128454091 1.0 1.0 7 Q8N3U4,Q14683 2 |
| Hypoventilation 0.3590650314833433 0.3755105683701915 0.7072807881209817 1.0 1.0 9 P11047 1 |
| Abnormality of the tongue 0.262037648838707 0.3747237043844961 0.707865961161563 1.0 1.0 61 Q9H9B1,Q9Y4R8,Q99575,Q969G3,P21281,P46109,P51114,Q9BQT8,P28482,O75844,P10253,Q9Y5P6,Q96S52,P04066,Q9H2M9,Q12756,Q15437,P08754,Q9UBM7,Q05086,O75381 21 |
| Generalized hypopigmentation 0.372243724921709 0.3728625501776004 0.7092507459065818 1.0 1.0 8 Q9Y2U8,P35222 2 |
| Malar prominence 0.6397996357012807 0.372116681734792 0.7098059765520972 1.0 1.0 2 O60934 1 |
| Stuttering 0.6397996357012803 0.3721166817347909 0.7098059765520981 1.0 1.0 2 P00403 1 |
| Fragile nails 0.3878829371325278 0.3706879616210761 0.7108699577822029 1.0 1.0 7 Q9Y487,P15924 2 |
| Poor coordination 0.4311866141652652 0.3652938156417842 0.7148920943249031 1.0 1.0 5 Q7Z6Z7 1 |
| Heterotaxy 0.4604024108437812 0.3646179996673317 0.7153965767664097 1.0 1.0 4 Q5H8A4 1 |
| Female reproductive system neoplasm 0.3175595637316499 0.3631875781066443 0.7164647662586829 1.0 1.0 14 Q15437,P35222 2 |
| Thyroid carcinoma 0.3084366122515873 0.360212043713643 0.718688568830693 1.0 1.0 15 Q969G3,Q15437,Q9UPY3 3 |
| Uplifted earlobe 0.5821761811702616 0.360194738305954 0.7187015092338147 1.0 1.0 3 Q9BZK7 1 |
| Decreased circulating androgen concentration 0.3555812267097472 0.3601112885728617 0.7187639112760049 1.0 1.0 9 P51809 1 |
| Pathologic fracture 0.3365964169421366 0.3593547051289823 0.7193297547780264 1.0 1.0 11 Q14108,P04062,Q13126 3 |
| Germ cell neoplasia 0.4003793153833185 0.3572963259651912 0.7208699801718554 1.0 1.0 6 P51809 1 |
| Abnormality of carpal bone ossification 0.5806649630451144 0.3559521569714171 0.721876394788405 1.0 1.0 3 P36776 1 |
| Cellular immunodeficiency 0.3543718484324384 0.3548170328124708 0.7227266672238162 1.0 1.0 9 O60832,Q15437 2 |
| Abnormality of the spinocerebellar tracts 0.6334244080145797 0.3540132124979869 0.7233289814858079 1.0 1.0 2 P48506 1 |
| Spinocerebellar tract degeneration 0.6334244080145797 0.3540132124979869 0.7233289814858079 1.0 1.0 2 P48506 1 |
| Increased vertebral height 0.6334244080145743 0.3540132124979712 0.7233289814858197 1.0 1.0 2 Q96J02 1 |
| Bilateral coxa valga 0.6334244080145722 0.3540132124979656 0.7233289814858239 1.0 1.0 2 Q96A33 1 |
| Decreased number of peripheral myelinated nerve fibers 0.3399007970257717 0.3532676971198882 0.72388776023838 1.0 1.0 10 Q12756,O15269,Q92734,P51149 4 |
| Abnormality of lipoprotein cholesterol concentration 0.3538559695987853 0.3525668976464778 0.7244131577327548 1.0 1.0 9 P37268,Q9BTV4 2 |
| Phocomelia 0.5790432801822262 0.3514241481932673 0.7252701686130696 1.0 1.0 3 Q15427,Q9Y5S9 2 |
| Spastic diplegia 0.3014581699740312 0.3513205318663236 0.7253478932511626 1.0 1.0 18 P07602,Q9H2M9,P35222,Q92947,Q7Z6Z7 5 |
| Abnormality of the ovary 0.30628493619754 0.3493220778806655 0.7268475254353681 1.0 1.0 44 Q9NR50,Q86W42,Q92878,Q15437,Q9UPY3,P51809,Q9H1A4,Q8WX93,P35222,O75844,Q06124 11 |
| Curly eyelashes 0.4265293721524879 0.3489615320968689 0.727118189271037 1.0 1.0 5 Q8N3U4 1 |
| Keratoconjunctivitis 0.3664711026948892 0.3485440745100528 0.7274316196731938 1.0 1.0 8 Q14739 1 |
| Abnormality of the common coagulation pathway 0.3287253503562971 0.3484110722406667 0.7275314883936685 1.0 1.0 12 Q06124,Q7L590,Q9BZK7 3 |
| Impaired t cell function 0.4261933421955731 0.3477941441958568 0.7279947877098951 1.0 1.0 5 P21964 1 |
| Cutaneous syndactyly 0.4261642397570436 0.3476931112570349 0.7280706706903095 1.0 1.0 5 Q9Y619,P21281 2 |
| Short chin 0.3526487635211677 0.3473207332914185 0.7283503762526506 1.0 1.0 9 Q08J23,Q03001,Q96S52,O75844 4 |
| Abnormal cardiac test 0.3335900020574546 0.3452682075752339 0.7298927454193584 1.0 1.0 11 P0DP25,Q9BTV4 2 |
| Rhizomelia 0.351221089464795 0.3411518526461744 0.7329892673009373 1.0 1.0 9 Q14739 1 |
| Keratitis 0.3510736201363438 0.340516851058208 0.7334673348815002 1.0 1.0 9 Q14739 1 |
| Abnormal duodenum morphology 0.3509406774340532 0.3399447564294192 0.7338981308331833 1.0 1.0 9 Q8N3U4,Q15645 2 |
| Addictive behavior 0.3956498484872918 0.3394639510039968 0.7342602494330759 1.0 1.0 6 Q9BZK7 1 |
| Diffuse alveolar hemorrhage 0.3956498484872918 0.3394639510039968 0.7342602494330759 1.0 1.0 6 Q9BZK7 1 |
| Disseminated intravascular coagulation 0.3956498484872918 0.3394639510039968 0.7342602494330759 1.0 1.0 6 Q9BZK7 1 |
| Metrorrhagia 0.3956498484872918 0.3394639510039968 0.7342602494330759 1.0 1.0 6 Q9BZK7 1 |
| Elbow flexion contracture 0.2993629660397155 0.3394275440802943 0.7342876717154354 1.0 1.0 18 Q8WXH0,P37268,O00469,P54886,Q9BTV4 5 |
| Retinal coloboma 0.3954677617195475 0.3387839032304098 0.7347725283120803 1.0 1.0 6 Q9H2M9 1 |
| Multiple lipomas 0.57441397000986 0.3386407947434491 0.7348803467424054 1.0 1.0 3 Q9Y2U8 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.363772383723856 0.3373681785935424 0.7358393697753645 1.0 1.0 8 P07602,O43681,P04062 3 |
| Slow decrease in visual acuity 0.3790992262887422 0.3357609157313443 0.7370511655265566 1.0 1.0 7 Q969G3 1 |
| Upper limb asymmetry 0.6265938069216783 0.3350820097060912 0.7375632233565035 1.0 1.0 2 Q15555 1 |
| Pulmonary hypoplasia 0.3000585349993945 0.3327355425545374 0.739333917719923 1.0 1.0 19 O96000,P25705,Q9UBM7,Q15738,Q14739,Q16134,O75844 7 |
| Abnormality of the carpal bones 0.3349964158987034 0.3311691141617283 0.740516748463685 1.0 1.0 10 Q9NUQ7,P36776,P54886 3 |
| Eczema 0.3114041481273591 0.330944456527007 0.7406864407926683 1.0 1.0 29 P21964,P61011,Q9UQ13,Q14739 4 |
| Pleural effusion 0.334840606086363 0.3304754043263573 0.7410407741560325 1.0 1.0 10 Q14739,P14174,Q06124 3 |
| Spondylolisthesis 0.6247723132969056 0.3301168377066236 0.7413116810915925 1.0 1.0 2 O00754 1 |
| Abnormality of facial soft tissue 0.2517024058326969 0.3300019620818439 0.7413984795674768 1.0 1.0 86 P35270,P43246,Q969G3,P11047,Q9BZI7,O15020,Q9BQT8,O75844,P50570,P29144,Q9BUF5,O60313,P10253,Q9Y5P6,Q8N3U4,P31150,P52701,Q15056,Q6Y7W6,Q00577,P04062,P51798,A6NHR9,Q9H1A4,Q9UHX1,P51812,Q14C86,O14802,Q12756,P62140,Q15437,O75340,Q9UBM7,O75381 34 |
| Abnormality of the cheek 0.303497789727251 0.3291358836861062 0.7420529825961184 1.0 1.0 44 Q12756,P62140,Q00577,P52732,Q9Y487,Q9BZK7,Q15427,P08754,Q8N3U4,P35573,Q96S52,Q9UHX1,Q9P2J5,O96028,P54886,Q16531 16 |
| Hypogonadotropic hypogonadism 0.2993131300088466 0.3285472107533503 0.7424979544319394 1.0 1.0 19 Q9H2M9,Q969G3,P35222,O14802,Q06124 5 |
| Finger syndactyly 0.2973101452361184 0.3279214171828173 0.7429710797552527 1.0 1.0 18 P15924,Q9UBM7,Q9Y2U8,Q15022,Q9Y619,Q05086 6 |
| Telangiectasia 0.3023228637005211 0.3263848003873844 0.7441332359808821 1.0 1.0 21 Q14739,Q15437,P35222 3 |
| Abnormal vascular physiology 0.3114890349462151 0.3261607971275418 0.744302700280091 1.0 1.0 34 Q9NP81,O75531,P04062,P51798,P11047,P35222,O95235,Q14739,Q14108,O75844 10 |
| Abnormality of the basal ganglia 0.2488817079893672 0.3241200971933405 0.7458471121806531 1.0 1.0 63 O95299,Q9H269,O60313,P04062,P19404,Q96C86,P55011,O14802,P36776,P28331,Q9UBB6,Q99986,Q92947,Q9NUQ7,P22570,P15311 16 |
| Decreased absent ankle reflexes 0.3905896797481776 0.3207498359270286 0.7483999773849102 1.0 1.0 6 O60313 1 |
| Abnormality of the pubic bone 0.4459287390218041 0.3186652307890179 0.7499803829271698 1.0 1.0 4 Q5H8A4 1 |
| Chronic constipation 0.3008344482975991 0.3179962076646154 0.750487813567537 1.0 1.0 21 Q16851,P04062,P55011,P78318 4 |
| Delayed gross motor development 0.2423104783770765 0.3178010152050193 0.7506358805753015 1.0 1.0 78 Q15233,Q5H8A4,Q9P2J5,P51798,O60508,Q9H2M9,Q8N3U4,Q9UQ13,P55011,Q9Y4A5,O60341,O96019,Q13618,Q9UBB6,Q7Z6Z7,P22570,Q05086 17 |
| Synostosis involving bones of the hand 0.3735872658440774 0.314471902887577 0.7531626530798805 1.0 1.0 7 Q9H1A4 1 |
| Abnormal circulating lipid concentration 0.2765664163080183 0.3143547564537747 0.7532516147406543 1.0 1.0 55 P07602,Q92734,O75381,Q7L590,P37268,O95470,Q15392,P35573,O43772,Q15738,Q14739,O14802,O75844,Q9BTV4 14 |
| Ventricular hypertrophy 0.3030386213017395 0.3140832619398659 0.7534578017943208 1.0 1.0 23 Q15233,P35573,P11047,Q9H267,O43772,O75844 6 |
| Death in adulthood 0.3308943003749642 0.3130816548265562 0.7542186263089077 1.0 1.0 10 P15924,P43246,P52701,Q9UN37,P51812 5 |
| Abnormal circulating gonadotropin concentration 0.3263270958362688 0.3120802398973727 0.7549795433914874 1.0 1.0 11 P51809 1 |
| Bilateral sensorineural hearing impairment 0.295800493703474 0.3090769367033029 0.7572630026816434 1.0 1.0 19 P07602,Q9UM54,P55011,Q13217 4 |
| Poor appetite 0.3567412247387906 0.3088558863261251 0.7574311548192094 1.0 1.0 8 Q8WX93,Q70HW3 2 |
| Abnormally folded helix 0.3136677919594734 0.3067796528878421 0.7590110966024113 1.0 1.0 13 P62140,Q14683,P08754,P21964,P36776 5 |
| Abnormal nasolacrimal system morphology 0.3291356810593063 0.3054415895974227 0.7600298502707301 1.0 1.0 10 P52732,P53701 2 |
| Personality changes 0.3248070149072065 0.3052906364635431 0.760144806774874 1.0 1.0 11 Q9NR50,P04062 2 |
| Spontaneous hemolytic crises 0.6147540983606613 0.3034507963100827 0.761546339508673 1.0 1.0 2 P11166 1 |
| Kyphoscoliosis 0.3036419291366473 0.3031168229670888 0.7618008340244979 1.0 1.0 41 Q15233,Q14807,Q9Y4R8,P51812,Q99575,Q6NW34,Q96T60,P82930,Q15738,Q9Y487,P54886,O14802,O75844,Q06124 14 |
| White hair 0.4399947774688936 0.3005976201937508 0.7637213463902297 1.0 1.0 4 O60832 1 |
| Abnormal metaphyseal trabeculation 0.4399947774688936 0.3005976201937508 0.7637213463902297 1.0 1.0 4 O60832 1 |
| Esophageal stenosis 0.4399947774688936 0.3005976201937508 0.7637213463902297 1.0 1.0 4 O60832 1 |
| Oral leukoplakia 0.4399947774688936 0.3005976201937508 0.7637213463902297 1.0 1.0 4 O60832 1 |
| Dysmetria 0.3064300490743421 0.3005694187456169 0.763742853998598 1.0 1.0 37 O60313,O14802,O15020,O14773,O75503 5 |
| Abnormality of the uterus 0.3048844607939349 0.2990562770783957 0.7648971062724581 1.0 1.0 39 Q86W42,Q15437,P43246,Q14683,Q15427,P51812,O60566,Q9UBM7,P53701,P21964,P35222,P52701,O96028 13 |
| Shoulder girdle muscle weakness 0.3689313182872606 0.2968866368380361 0.7665530587195146 1.0 1.0 7 Q8TD16 1 |
| Action tremor 0.3062863843157083 0.2968201747808464 0.7666038019840788 1.0 1.0 36 Q15233,P54886,O15020,O14773,Q14108,O14802 6 |
| Enlarged posterior fossa 0.3044496303164743 0.2962322937736921 0.767052688132702 1.0 1.0 39 Q9H490,O60566,O43505,Q8TAQ2,Q969G3,P21281,Q9Y487,P54886,O14802,Q9BPU6,Q15645 11 |
| Cutaneous photosensitivity 0.2951977939303242 0.296032073180162 0.7672055876929971 1.0 1.0 20 Q06136,Q14108 2 |
| Abnormality of abdominal situs 0.5582383719401246 0.295689837371021 0.7674669589377459 1.0 1.0 3 Q5H8A4 1 |
| Hypoplastic pubic rami 0.5582383719401246 0.295689837371021 0.7674669589377459 1.0 1.0 3 Q5H8A4 1 |
| Rib segmentation abnormalities 0.5582383719401246 0.295689837371021 0.7674669589377459 1.0 1.0 3 Q5H8A4 1 |
| Aplasia hypoplasia of the pubic bone 0.5582383719401246 0.295689837371021 0.7674669589377459 1.0 1.0 3 Q5H8A4 1 |
| Urethral stricture 0.6115664845173074 0.295198694256584 0.7678420994074979 1.0 1.0 2 P09884 1 |
| Insulin resistance 0.3112128146453072 0.2951877694076964 0.7678504445450018 1.0 1.0 13 P28340,O95140,P17096,P43304,Q9Y6M1,P18031,A5YKK6,O75431,P40763,P54132,Q03252,O75844 12 |
| Abnormality of the gallbladder 0.3051655777777659 0.2910447157700143 0.7710171207985081 1.0 1.0 30 P07602,Q5H8A4,P04062,Q15437,Q9UBM7,P21964,P04066,O43681,Q9UN37,O96028,P08237 11 |
| Knee flexion contracture 0.290336681678762 0.2899596462040074 0.7718471096127755 1.0 1.0 18 Q9Y5P6,P37268,Q8TD16,O00469 4 |
| Abnormality of the biliary system 0.2436781001176327 0.28720571267614 0.7739548124246749 1.0 1.0 82 P07602,Q5H8A4,P55263,Q16134,P08237,Q9NSD9,Q9H267,P21964,P04066,O43681,Q14739,Q14108,P04062,P11166,P14174,Q8WX93,Q9UN37,P00374,O96028,Q9H3U1,Q15437,Q6PGP7,P48506,Q9UBM7,P36776,Q5JPH6,O75381 27 |
| Abnormal size of pituitary gland 0.435433771725335 0.2870305189288324 0.7740889522500625 1.0 1.0 4 Q969G3 1 |
| Abnormal visual field test 0.435433771725335 0.2870305189288324 0.7740889522500625 1.0 1.0 4 Q969G3 1 |
| Heteronymous hemianopia 0.435433771725335 0.2870305189288324 0.7740889522500625 1.0 1.0 4 Q969G3 1 |
| Diminished movement 0.3154565708969626 0.2866854268400009 0.774353197117138 1.0 1.0 12 P51114,P04062 2 |
| Muscle fiber atrophy 0.2875615919149238 0.2861913469458257 0.7747315708416926 1.0 1.0 17 Q7Z392,Q9NP81,P11047,Q9BTV4 4 |
| Tetraparesis 0.3004214771384209 0.2858477774150195 0.7749947130383301 1.0 1.0 25 P07602,P17900,Q9H9P8,Q16851,Q5JPH6 5 |
| Skin nodule 0.2895318703994706 0.2856940685108372 0.7751124480831972 1.0 1.0 18 Q92990,Q15437,P35222,Q06124 4 |
| Hypotension 0.2941912562546 0.2856650701137126 0.7751346603078211 1.0 1.0 15 P04062 1 |
| Proximal muscle weakness in upper limbs 0.3244144168822924 0.2852804004570969 0.7754293274040025 1.0 1.0 10 Q9Y5P6,Q8WXH0,Q9BTV4 3 |
| Abnormal parotid gland morphology 0.6074681238615699 0.2847573888701892 0.77583001993206 1.0 1.0 2 P16615 1 |
| Lacrimal duct stenosis 0.6074681238615698 0.2847573888701883 0.7758300199320607 1.0 1.0 2 P62140 1 |
| Abnormal distal phalanx morphology of finger 0.3044323483999934 0.2835143613316295 0.7767825743495518 1.0 1.0 35 O75531,P15924,P51798,Q9H2M9,P51812,Q969G3,P21281,Q96S52,P46109,Q9Y2U8,P28482,O75844 12 |
| 11 pairs of ribs 0.380053804941863 0.2830609300941965 0.7771301305313025 1.0 1.0 6 Q14739 1 |
| Supernumerary nipple 0.3500859598792617 0.2827115893155772 0.7773979315436641 1.0 1.0 8 Q15233,Q9Y4A5 2 |
| Abnormality of the voice 0.2500525826458132 0.2789606595826309 0.7802750158307394 1.0 1.0 89 P25705,P11047,Q9Y2U8,P28482,O75844,O60313,Q9Y5P6,Q8N3U4,P21964,Q7Z6Z7,Q15056,Q8N0X7,P55011,Q6Y7W6,Q9BPU6,Q15233,Q8WXH0,P04062,Q96ST3,P54886,P07237,Q06124,P08754,Q9UQ13,P36776,O96019,Q9Y487,Q15022,Q9BTV4 29 |
| Delayed menarche 0.4053870398066442 0.2785801824162693 0.7805670229940693 1.0 1.0 5 Q06124 1 |
| Microcornea 0.2892988842313144 0.2742433785888286 0.7838975941876332 1.0 1.0 19 O43505,Q9H2M9,P52732 3 |
| Abnormal patella morphology 0.2852058803207349 0.2739108048894188 0.784153167934357 1.0 1.0 17 Q9H1A4,P21964 2 |
| Aortic aneurysm 0.302910933508487 0.2734671963006972 0.7844941051772623 1.0 1.0 33 P28482,P55011,O96019,P46109 4 |
| Bundle branch block 0.3348623081365475 0.2733632736687088 0.7845739813344985 1.0 1.0 9 O75531,Q06124 2 |
| Acute encephalopathy 0.430738548284254 0.2733627687782307 0.784574369404798 1.0 1.0 4 Q9Y619 1 |
| Abnormality of the gastric mucosa 0.3172891249032833 0.2725465932285595 0.7852017704482885 1.0 1.0 11 Q14739 1 |
| Short digit 0.2714914044066908 0.270801319013253 0.7865438453457756 1.0 1.0 112 Q5H8A4,Q9Y4R8,Q99575,Q969G3,P21281,P46109,P28482,O75844,Q06136,Q9BZK7,Q6NW34,Q96S52,O60341,Q92643,Q13868,Q7Z6Z7,Q14739,P55011,Q9BPU6,P51798,Q9H2M9,P11166,Q96ST3,Q9UHX1,P51812,O96028,P46783,Q06124,Q8TAQ2,Q5JRA6,Q15437,Q96C86,Q9UQ13,Q9UBM7,P36776,O96019,Q96T60,P00813 38 |
| Abnormality of the coagulation cascade 0.3000204834087516 0.2683577991470467 0.7884239198674334 1.0 1.0 28 Q7L590,Q9BZK7,Q9P2J5,Q9Y487,P51571,Q9Y619,Q06124 7 |
| Exodeviation 0.2877774430930504 0.2663262565098727 0.7899879533215743 1.0 1.0 19 Q15233,Q7Z392,P82930,Q9UHX1,Q05086 5 |
| Toe syndactyly 0.2996236447307048 0.2655129008237361 0.7906143729771249 1.0 1.0 39 Q9Y4R8,Q14683,Q15427,P37268,P21281,Q9UBM7,P46109,Q96ST3,O14802,P31150,Q9UHX1,P51812,P28482,P55011 14 |
| Localized skin lesion 0.3070856007261131 0.2637865602118699 0.7919443912842425 1.0 1.0 155 O15269,P07602,Q8WWY3,Q5H8A4,Q14574,P61011,P21281,P53701,Q13126,P35222,Q9Y2U8,P28482,O75844,Q06136,O60934,P52732,P15924,Q15392,Q8N3U4,Q96S52,P21964,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15645,Q15233,Q6P2Q9,P04062,O95453,Q9H1A4,Q03001,Q96ST3,Q9UHX1,O96028,P54886,O14802,Q06124,Q12756,O60832,Q15437,Q6PGP7,O60566,P08754,Q9UQ13,P17612,Q9Y619,O96019,Q92542,Q15022,Q9NYB0,Q92990 52 |
| Pituitary hypothyroidism 0.4004119904419637 0.2629763730222825 0.7925687899442853 1.0 1.0 5 Q969G3 1 |
| Large placenta 0.5438068477684318 0.259739108927537 0.7950650231153045 1.0 1.0 3 O75844 1 |
| Aplasia hypoplasia of the phalanges of the thumb 0.3587403012323177 0.2597336722902119 0.7950692170437954 1.0 1.0 7 O60216,Q9UQE7,Q9NVI1,Q14683,A5YKK6,Q6KC79 6 |
| Temperature instability 0.3434815044995812 0.2576226854799164 0.7966981200643783 1.0 1.0 8 P07602,Q8N3U4,P35270,Q14683 4 |
| Bilateral single transverse palmar creases 0.3429302752206726 0.2555685694329372 0.798283990509089 1.0 1.0 8 O75381,Q9Y4R8,Q5SRE5 3 |
| Abnormality of the diencephalon 0.2891052950594159 0.2548254180547638 0.7988579424327538 1.0 1.0 21 Q9Y5P6,Q9H269,Q969G3,P35222 4 |
| Triangular face 0.2993299637116384 0.2536391957617233 0.7997743127436032 1.0 1.0 32 Q15233,Q06124,P04062,Q8N3U4,O00469,Q7Z6Z7,P54886,O14802,O75381,Q15645 10 |
| Wide mouth 0.2858724975374732 0.253108652037983 0.8001842531661385 1.0 1.0 48 Q969G3,P21281,P28482,P51571,Q16531,Q9Y4A5,Q7Z6Z7,Q15056,P55011,Q9BPU6,Q15233,Q9H490,Q15427,P11166,P51812,Q8TAQ2,Q6PGP7,Q9UBM7,P31939,Q05086 20 |
| Abnormality of the temporomandibular joint 0.5409654992691335 0.2529356418502476 0.8003179465535089 1.0 1.0 3 O75844 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.3421913529100019 0.2528248499773964 0.800403563895792 1.0 1.0 8 P07602,P04062 2 |
| Hypergonadotropic hypogonadism 0.3117542121323148 0.2493640021529493 0.8030792278838448 1.0 1.0 11 P51809 1 |
| Aplasia hypoplasia of the spleen 0.3956487218874626 0.2483998908676369 0.8038250180100952 1.0 1.0 5 Q7L590,P57076 2 |
| Pseudoepiphyses of hand bones 0.5389621455773029 0.2481942299767157 0.8039841305233333 1.0 1.0 3 P51812 1 |
| Pseudoepiphyses of the metacarpals 0.5389621455773029 0.2481942299767157 0.8039841305233333 1.0 1.0 3 P51812 1 |
| Pseudoepiphyses 0.5389621455773029 0.2481942299767157 0.8039841305233333 1.0 1.0 3 P51812 1 |
| Progressive spastic quadriplegia 0.3552596441218421 0.2474838021320285 0.8045338257137589 1.0 1.0 7 P07602,P17900 2 |
| Hemianopia 0.3695111522850056 0.2471838237603446 0.8047659637118041 1.0 1.0 6 Q969G3 1 |
| Muscle hypertrophy of the lower extremities 0.3950752142042395 0.2466692515555016 0.8051642050364061 1.0 1.0 5 Q9Y5P6 1 |
| Constriction of peripheral visual field 0.2859650376770468 0.245717365788294 0.805901028311913 1.0 1.0 15 Q9H061,Q8WWY3,Q6P2Q9,O60313 4 |
| Otitis media 0.2962042943482814 0.2444600936392126 0.8068745051525281 1.0 1.0 39 O60934,P29144,Q5H8A4,P51798,O96028,Q9UBM7,Q9H1A4,P21964,Q86Y56,P57076,Q14739,P28482,O14802,P00813,Q16531 15 |
| Tented upper lip vermilion 0.2932323896127259 0.2440858720106384 0.8071643141882232 1.0 1.0 14 Q9NXE4 1 |
| Variable expressivity 0.2705818985854938 0.2428670320290699 0.8081084056495009 1.0 1.0 54 Q12756,P07602,Q00577,P17900,P52732,Q9BUF5,O95453,Q9Y5P6,O95470,Q70HW3,Q9H061,P00403,Q8TD16,Q13868,P00374,P08237 16 |
| Distal lower limb amyotrophy 0.3538576962798159 0.2426151199102708 0.8083035671301275 1.0 1.0 7 Q92734,Q8TD16 2 |
| Gonadal neoplasm 0.2848795890498579 0.2421363268703729 0.8086745307802661 1.0 1.0 20 O60934,Q92878,P43246,Q9UPY3,P51809,Q8WX93,P35222,P52701 8 |
| Absent speech 0.245389442844968 0.2409946010319288 0.8095593009795845 1.0 1.0 88 Q5H8A4,Q9Y4R8,Q969G3,P57678,Q15021,Q9BZK7,Q9Y5P6,Q8N3U4,Q16851,Q7Z392,Q96S52,Q9Y4A5,Q7Z6Z7,P55011,Q9BPU6,Q00577,Q9H2M9,P11166,Q9UN37,P54886,Q12756,Q96C86,P82930,Q9UPN3,Q5JPH6,Q05086 26 |
| Truncal obesity 0.3046660567246144 0.2399456258043282 0.8103724095627838 1.0 1.0 12 O60216,Q9UQE7,P10644,Q14683,Q12830,Q9H2P0,Q10713,Q6KC79,Q9Y4W2,Q8NI27,Q8IWS0 11 |
| Abnormality of the musculature of the lower limbs 0.278421294268823 0.23975220658701 0.8105223600026075 1.0 1.0 17 Q12756,Q8WXH0,Q9Y5P6,Q7Z392,Q9BTV4 5 |
| Abnormality of renal excretion 0.3668081642789187 0.2382968729664224 0.8116508465153123 1.0 1.0 6 Q9NP81,O43772 2 |
| Adipose tissue loss 0.338086125408903 0.2377889799560127 0.8120447662761117 1.0 1.0 8 O14802 1 |
| Echolalia 0.3377865085088539 0.2367055210740208 0.8128852514753897 1.0 1.0 8 Q9UHX1,P53701 2 |
| Hypoparathyroidism 0.3253762266511388 0.2366848784920746 0.8129012669011151 1.0 1.0 9 P21964,P00403,Q08J23 3 |
| Optic atrophy 0.2789485124633008 0.236632599442166 0.8129418276443456 1.0 1.0 124 P07602,Q8WWY3,Q5H8A4,Q9H9P8,P21281,Q9H061,P35222,P22570,P57678,P52732,Q92734,O60313,Q9Y5P6,P19404,Q7Z392,P21964,P00403,Q7Z6Z7,Q04837,O95299,Q6P2Q9,Q9H490,P51798,Q9H2M9,P28331,Q9BPX6,P51812,O96028,O14802,P43897,Q12756,Q9NR50,O60832,O43505,Q9UBM7,P82930,P31939,O95319,O75381 39 |
| Eeg with polyspike wave complexes 0.4175338930761166 0.2366083955902979 0.8129606063923667 1.0 1.0 4 Q14108 1 |
| Abnormality of facial musculature 0.2697324641876241 0.2363792249290696 0.8131384155728798 1.0 1.0 54 P35270,Q969G3,P11047,Q9BZI7,O15020,Q9BQT8,P50570,Q9BUF5,O60313,P10253,Q9Y5P6,Q8N3U4,P31150,Q6Y7W6,Q00577,P04062,P51798,A6NHR9,Q9UHX1,P51812,O75340,O75381 22 |
| Abnormality of the abdominal wall 0.238794800246507 0.2361494801333345 0.8133166798821101 1.0 1.0 82 P46109,P35222,P28482,O75844,Q96S52,Q9Y4A5,P21964,P04066,Q14739,A6NHR9,Q96ST3,Q9UHX1,Q15738,P51812,P54886,Q06124,Q6PGP7,Q9UQ13,Q9UBM7,Q15022,P36776,O00469,Q9Y487,Q96T60 24 |
| Urogenital fistula 0.3375488106593188 0.2358473316336145 0.8135511386253556 1.0 1.0 8 P36776,Q16531 2 |
| Abnormal dermatoglyphics 0.2746356123755502 0.2347831668504802 0.8143770335031233 1.0 1.0 52 Q9H9B1,Q9Y4R8,P21281,Q9BZK7,Q96S52,Q5SRE5,Q15056,Q9NXE4,Q9H2M9,Q96ST3,Q9UHX1,P51812,O96028,Q06124,Q9UQ13,Q9UBM7,P36776,Q9Y487,O75381 19 |
| Coarse hair 0.2975934659099073 0.2340931484633292 0.814912664909051 1.0 1.0 13 P62140,P51812,Q9Y487,P22681,Q06124 5 |
| Accessory spleen 0.4164798821492517 0.2337847728963234 0.8151520715035012 1.0 1.0 4 O96028 1 |
| Central hypothyroidism 0.3239297244637428 0.2312734203510305 0.8171023944628959 1.0 1.0 9 Q969G3,P35222 2 |
| Polyneuropathy 0.2824728764848078 0.2294989375361268 0.8184811463164816 1.0 1.0 15 P48506,P04066,O60313 3 |
| Abnormal eyelash morphology 0.2264318692607086 0.2267190375539889 0.8206422227284138 1.0 1.0 66 Q14574,Q969G3,P21281,P53701,Q5KU26,P62304,O75844,Q16531,P52732,P15924,Q8N3U4,O75531,Q14683,O95453,A6NHR9,Q9H1A4,Q9UHX1,O14802,Q8TAQ2,O60832,Q9UQ13,Q9UBM7,Q9Y619 23 |
| Microglossia 0.529507059308409 0.2264453142615065 0.8208550873997256 1.0 1.0 3 P08754 1 |
| Aplasia hypoplasia of the tongue 0.529507059308409 0.2264453142615065 0.8208550873997256 1.0 1.0 3 P08754 1 |
| Decreased circulating aldosterone level 0.5824225865209514 0.2252152425589946 0.8218118321828585 1.0 1.0 2 Q9NRG9 1 |
| Ecchymosis 0.3090387220269528 0.2233680976934044 0.8232490314505994 1.0 1.0 10 P04062,Q9BZK7 2 |
| Scarring 0.2842935006646885 0.2224236596770579 0.8239840953141089 1.0 1.0 22 Q03001,Q92542 2 |
| Bilateral tonic clonic seizure 0.2302452437676182 0.2223806965449767 0.8240175375496179 1.0 1.0 65 P07602,Q5H8A4,O95239,P21281,Q96S52,Q7Z392,Q9ULM3,P00403,P31150,Q14739,Q9BPU6,Q00577,P04062,Q14683,O60508,P11166,Q86YH6,P51812,Q12756,O60566,P36776,Q96T60,Q05086 23 |
| Eruption failure 0.3868120845290796 0.222329549224048 0.8240573507235636 1.0 1.0 5 A6NHR9 1 |
| Aplasia cutis congenita over the scalp vertex 0.5810564663023705 0.2221844090942701 0.8241703305473418 1.0 1.0 2 Q15149 1 |
| Congenital localized absence of skin 0.5810564663023705 0.2221844090942701 0.8241703305473418 1.0 1.0 2 Q15149 1 |
| Platyspondyly 0.2888980351834254 0.2188871556855764 0.8267379521455751 1.0 1.0 26 Q6NW34,P04066 2 |
| Abnormal testis morphology 0.3033122871282734 0.218291444683306 0.827202039893449 1.0 1.0 156 Q8WWY3,Q5H8A4,Q969G3,Q9UPY3,P53701,Q92979,P51114,O15344,P28482,P46977,Q06136,Q9BZK7,Q9Y5P6,Q96S52,P51809,Q9Y4A5,P21964,O60341,P78318,Q7Z6Z7,P55011,Q9BPU6,Q15233,Q6P2Q9,O95453,Q9H2M9,O95470,A6NHR9,Q9H1A4,Q96ST3,O96028,P54886,O14802,P29372,Q06124,Q8TAQ2,O60832,O15294,O60566,O43505,P37268,Q9UQ13,Q9UBM7,P36776,O96019,Q9Y487,Q15022,Q9Y619,O75381 49 |
| Hand oligodactyly 0.578779599271407 0.2171840179430046 0.8280649392724757 1.0 1.0 2 Q15427 1 |
| Abnormal thyroid stimulating hormone level 0.5778688524590209 0.2152017639253134 0.8296100157331616 1.0 1.0 2 O14654 1 |
| Mild postnatal growth retardation 0.5778688524590209 0.2152017639253134 0.8296100157331616 1.0 1.0 2 Q9Y3E5 1 |
| Thick lower lip vermilion 0.2912144262578961 0.2148448614812478 0.8298882750875685 1.0 1.0 39 P62140,Q9H9B1,P52732,P51812,P11166,Q8TAQ2,Q969G3,P21281,Q9UQ13,Q96ST3,P04066,P31150,Q7Z6Z7,Q15056,Q9Y619,P22681,Q06124 17 |
| Abnormal renal pelvis morphology 0.2921714762995578 0.2148045103896346 0.8299197362004787 1.0 1.0 37 O60934,P57678,Q5JRA6,O75381,O43505,Q9H2M9,P21281,Q9UBM7,Q9Y4A5,P35222,Q15738,Q8N0X7,O14802,Q16531 14 |
| Ophthalmoparesis 0.2762877061959066 0.214523313710564 0.8301389884073309 1.0 1.0 50 Q8WWY3,O95299,O60313,P04062,Q5ST30,P19404,Q969G3,P11047,Q5JPH6,P28331,P22570 11 |
| Entropion 0.3590720305807928 0.2135937830759533 0.8308638479100434 1.0 1.0 6 O14802 1 |
| Abnormal iliac wing morphology 0.3585766423357674 0.2120496031783654 0.8320683363850729 1.0 1.0 6 Q96AX1,O95831,P16278,P51812,Q9NR45 5 |
| Short phalanx of the thumb 0.358576642335767 0.2120496031783637 0.8320683363850743 1.0 1.0 6 O60216,Q9UQE7,Q9NVI1,Q14683,Q6KC79 5 |
| Hypermetropia 0.2907206805360627 0.2119878012134052 0.8321165512725215 1.0 1.0 39 Q92878,P52732,Q5H8A4,Q9H490,O15294,Q9UQ13,P68371,Q96ST3,Q9UHX1,P35222,Q7Z6Z7,O14802 12 |
| Abnormality of the adrenal glands 0.2892103076021914 0.211826516572585 0.8322423806803816 1.0 1.0 41 O95470,Q969G3,P21281,Q7Z392,P17612,P51809,P35222,Q13618,Q15738,O75381 10 |
| Myoclonus 0.240863180048368 0.2108832606422041 0.8329783664718504 1.0 1.0 62 Q12756,Q00577,P04062,O95319,Q96T60,Q969G3,P00374,O14773,Q14108,O75503,Q05086 11 |
| Abnormal shape of the occiput 0.2743770393820541 0.2101596033111959 0.8335431073315163 1.0 1.0 18 P52732,P21281,Q9Y2U8,Q05086,O75381 5 |
| Generalized tonic seizure 0.2854232123527703 0.2098979225687671 0.8337473436657379 1.0 1.0 14 Q12756 1 |
| Aplasia hypoplasia involving bones of the feet 0.2793909437666186 0.2091443483804757 0.8343355551457359 1.0 1.0 48 Q5H8A4,Q9Y4R8,P21281,Q9BZK7,Q96S52,Q9Y4A5,Q7Z6Z7,Q8N0X7,P55011,Q9BPU6,Q14683,Q15427,Q9H2M9,Q9UHX1,O96028,Q5JRA6,Q9UBM7,O96019,P00813 19 |
| Goiter 0.3575278866515675 0.2087957279822642 0.8346077064153841 1.0 1.0 6 Q15437 1 |
| Mortality aging 0.2255858325030573 0.208637955833507 0.8347308780987714 1.0 1.0 72 P07602,P43246,Q92979,P51114,Q16134,O75844,P50570,P29144,P15924,Q9H267,P52701,Q15056,Q14739,Q9NXE4,O96000,P04062,O60508,Q9UN37,O95235,Q96IX5,Q15738,P51812,P43897,Q5JTZ9,O75381 25 |
| Mitral valve prolapse 0.2775208251314048 0.2072888220997527 0.8357843032426115 1.0 1.0 15 P28482,Q06124 2 |
| Broad forehead 0.288494534112328 0.2071589351086776 0.8358857366554169 1.0 1.0 28 Q86W42,Q9H490,Q9UQ13,P78318,O14802 5 |
| Abnormality of the breast 0.2296144926415108 0.206722501582776 0.8362265832422617 1.0 1.0 76 Q5H8A4,P43246,P35222,O60934,Q9BZK7,Q9Y4A5,Q5SRE5,P51809,O60341,P52701,Q9NXE4,Q15233,Q92878,Q14683,Q9H2M9,A6NHR9,Q8WX93,O96028,O14802,Q06124,P62140,Q15437,Q8IY37,Q9NYB0,Q9UBM7,Q9Y619,P22681 27 |
| Abnormal large intestine physiology 0.296472226637654 0.2067075390765481 0.8362382692310493 1.0 1.0 12 P28482,P46109 2 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.2852278986845137 0.2063477190943123 0.8365193060442098 1.0 1.0 25 P51798,Q969G3,P21281,Q96S52,P46109,P28482,O75844 7 |
| Episodic ataxia 0.4055458900491793 0.2054865652277454 0.8371919935410477 1.0 1.0 4 Q96T60 1 |
| Hypotelorism 0.2895942054403336 0.2054838920449987 0.8371940818745074 1.0 1.0 30 Q9NSD9,Q9BPU6,Q14683,Q9H2M9,Q08J23,Q8N3U4,Q9UDR5,Q9Y4A5,Q7Z6Z7,P54886,Q16531,Q9NXE4 12 |
| Limb girdle muscle atrophy 0.3042667385339905 0.2053910894956852 0.8372665814332962 1.0 1.0 10 Q7Z392,Q9BTV4 2 |
| Focal dystonia 0.2686257323308063 0.2041530987839023 0.8382338611650273 1.0 1.0 16 P09543,Q9H269 2 |
| Abnormality of the inner ear 0.3163697991279431 0.2038049887725061 0.8385058941893522 1.0 1.0 9 Q06124 1 |
| High narrow palate 0.2810499233193359 0.1993115023942651 0.8420190820711462 1.0 1.0 23 P28482,Q9Y619,P46109,Q06124 4 |
| Abnormal gallbladder morphology 0.282316911640892 0.1985349406848775 0.8426265500777619 1.0 1.0 24 Q15437,P04062,P21964,Q9UN37,P08237 5 |
| Respiratory distress 0.2876293199379939 0.1980154134024762 0.8430330043533361 1.0 1.0 40 Q00577,P04062,P61011,P21281,P11047,P53701,P50747,Q9UHX1,P51571,Q9Y619,Q96EY8 11 |
| Sleep apnea 0.2670257569511849 0.1969201265166812 0.8438900433689178 1.0 1.0 16 Q15233,P08754,P11047,P51114,P35222,P51812 6 |
| Abnormal facial expression 0.2733075050460203 0.1957627834971451 0.8447958408649181 1.0 1.0 19 Q9Y5P6,Q00577,P04062,Q05086 4 |
| Subcortical cerebral atrophy 0.4012836734559096 0.1949555687912288 0.8454277311027156 1.0 1.0 4 Q92947 1 |
| Large for gestational age 0.352701673506468 0.1940910057624376 0.8461046240775398 1.0 1.0 6 Q12955,Q9H9B1,Q9UQ13 3 |
| Abnormality of hand joint mobility 0.5134498135409286 0.1919458055062703 0.84778465687889 1.0 1.0 3 Q5H8A4 1 |
| Hyperextensibility of the finger joints 0.5134498135409286 0.1919458055062703 0.84778465687889 1.0 1.0 3 Q5H8A4 1 |
| Abnormality of the posterior pituitary 0.3517996645373755 0.1913922884706798 0.8482182613028304 1.0 1.0 6 Q969G3,P35222 2 |
| Preauricular skin tag 0.2805602038143576 0.189696764528801 0.8495467563086554 1.0 1.0 14 Q15427,P08754,Q8N3U4,Q96S52,Q15029,O96028 6 |
| Abnormal finger phalanx morphology 0.262387183132747 0.1896595667717464 0.84957590669625 1.0 1.0 111 Q5H8A4,Q969G3,P21281,P46109,Q92979,Q9Y2U8,P28482,O75844,P15924,Q6NW34,Q96S52,P21964,Q13868,Q7Z6Z7,Q14739,P55011,Q9BPU6,Q15233,O75531,P51798,Q9H2M9,Q9H1A4,Q9UHX1,P51812,O96028,P46783,O14802,Q12756,Q5JRA6,Q9UBM7,P36776,O96019,Q15022,Q9Y619 34 |
| Lower limb amyotrophy 0.2999185039757181 0.1895482821280325 0.8496631172279079 1.0 1.0 10 Q12756,Q8TD16 2 |
| Abnormality of the helix 0.2863928660370128 0.1892969585182129 0.8498600789825748 1.0 1.0 30 P62140,P15924,Q14683,P08754,Q96S52,Q9UDR5,P21964,Q15029,P36776,O75844,Q06124 11 |
| Abnormal electroretinogram 0.275619000645514 0.1891582107721003 0.8499688192983268 1.0 1.0 21 O14773,Q8WWY3,Q04837 3 |
| Abnormality of the spinal cord 0.2724917423654105 0.1890261200897656 0.8500723449472041 1.0 1.0 50 Q06124,Q5H8A4,Q9Y5P6,P48506,Q6NW34,P21281,P21964,O60341,Q96ST3,Q9UHX1,P35222,Q9Y2U8,P54886,Q13217 14 |
| Lissencephaly 0.2852203968483978 0.1886281579821788 0.8503842620918336 1.0 1.0 41 O43505,Q9H2M9,Q15392,P42695,Q15738,Q9Y487,Q96T60 7 |
| Inappropriate laughter 0.3746386194172733 0.188565502975864 0.8504333723458468 1.0 1.0 5 Q96S52,Q05086 2 |
| Abnormality of the small intestine 0.2873237010015622 0.1880304293338838 0.8508527974440543 1.0 1.0 37 Q9H3U1,Q6PGP7,Q8N3U4,P61011,O96028,P51812,Q14739,Q14566,Q15645 9 |
| Short 1st metacarpal 0.374373005015954 0.1878573983097225 0.8509884393132345 1.0 1.0 5 O60216,Q9NVI1,Q6KC79,Q14683 4 |
| Abnormally low pitched voice 0.3743730050159471 0.1878573983097041 0.850988439313249 1.0 1.0 5 O60216,Q15022,Q6KC79,Q14683 4 |
| Oligodactyly 0.3743730050159466 0.187857398309703 0.8509884393132499 1.0 1.0 5 O60216,Q15427,Q6KC79,Q14683 4 |
| Dehydration 0.2957837583627541 0.1871917477156584 0.8515102948479367 1.0 1.0 11 Q9H3U1 1 |
| 2 3 toe syndactyly 0.2713450260523822 0.1868820236601166 0.8517531339282025 1.0 1.0 19 P37268,Q9UBM7,P55011,Q9UHX1,P51812,O14802 6 |
| Single transverse palmar crease 0.2858897488574283 0.1867986842877357 0.8518184785464078 1.0 1.0 30 Q9H9B1,Q9Y4R8,Q96S52,Q5SRE5,Q96ST3,P36776,Q9UHX1,P51812,O96028,O75381,Q9NXE4 11 |
| Abnormal sacrum morphology 0.2731447939909538 0.1862072870887696 0.852282209629811 1.0 1.0 20 Q5H8A4,O96028,P53701,P04066,Q15056,Q14739 6 |
| Visual field defect 0.2866578206648432 0.185655027250897 0.8527152981292399 1.0 1.0 32 Q8WWY3,Q969G3,Q9H061,P35222,P22570 5 |
| Abnormality of the amniotic fluid 0.2379174151009339 0.1856235572124035 0.8527399786329422 1.0 1.0 62 P21281,P51114,O75844,P50570,Q9NSD9,P15924,Q9Y5P6,P21964,Q14739,Q15645,P04062,P51798,Q86YH6,Q70HW3,Q96ST3,Q9UHX1,Q9BTW9,Q6PGP7,O60566,Q9UQ13,Q9UBM7,P36776 22 |
| Abnormality of pancreas physiology 0.2848015254040626 0.1848525384833777 0.8533446981373121 1.0 1.0 29 P48506,P61011,P14174,Q8WX93,Q9UHX1,Q14739 6 |
| Cardiomegaly 0.2819159492251498 0.184687154670276 0.853474421941971 1.0 1.0 26 Q14739,P04066 2 |
| Thickened ribs 0.3951686417502326 0.1803472232051742 0.8568799846426232 1.0 1.0 4 P15586,O00754,P16278 3 |
| Muscle stiffness 0.2782113292181939 0.1802478462810644 0.8569579976037625 1.0 1.0 14 Q12756,P07602,P52732,Q15392 4 |
| Macrotia 0.2296879265324012 0.1800817057056157 0.8570884245463428 1.0 1.0 64 P21281,P51571,Q16531,O60934,Q9BZK7,Q7Z6Z7,Q15056,P55011,Q9BPU6,Q14683,Q9H2M9,P11166,Q96ST3,Q9BTW9,P54886,Q12756,P37268,Q9UQ13,O96019,Q15022 20 |
| Sensory neuropathy 0.2779888882007785 0.1782629121238337 0.8585165040967699 1.0 1.0 24 Q92734,O60313,Q03001,P00403,P51149 5 |
| Megaloblastic anemia 0.3705650691926779 0.1778426525117867 0.8588465493868871 1.0 1.0 5 P00374 1 |
| Long foot 0.333474538355371 0.1762841720936143 0.8600706961469919 1.0 1.0 7 P51812,Q15022,O14802 3 |
| Slanting of the palpebral fissure 0.2862088987439671 0.1758362201766019 0.8604226133543205 1.0 1.0 140 Q86W42,Q9H9B1,O75381,Q5H8A4,Q9Y4R8,P21281,P28482,Q16531,O75844,O60934,P52732,Q15392,P42695,Q9Y4A5,P21964,O60341,P31150,Q13868,P78318,Q7Z6Z7,Q8N0X7,P55011,Q9BPU6,Q9NXE4,Q15645,Q15233,Q00577,Q14683,Q15427,Q9H2M9,P11172,Q96ST3,Q9UHX1,Q9BTW9,Q15738,O96028,P51812,P07237,O14802,Q06124,P62140,O75340,O60566,Q6PGP7,Q9UQ13,Q9UBM7,P62857,Q15022,Q15029,O96019,Q96F07,Q9Y487,O95319,P22681,Q05086 55 |
| Dicarboxylic aciduria 0.2666954200328764 0.1755618822520515 0.8606381507046226 1.0 1.0 18 O43772,Q9H9P8 2 |
| Gait ataxia 0.2785190448967965 0.1745348700722568 0.8614451289473319 1.0 1.0 45 P07602,Q5H8A4,P54886,O15020,O14773,Q14108,P22570,Q05086,Q13217 9 |
| Cerebral calcification 0.275208007506549 0.1723426650769033 0.8631681442425312 1.0 1.0 23 O00584,O60832,O60313,O95453,P11166,P00403,P35222 7 |
| Brachycephaly 0.2655742691788358 0.1716202681636453 0.8637360721817038 1.0 1.0 52 Q05086,P04062,Q9BZK7,O60566,Q9H2M9,P21281,O60341,P04066,P31939,Q7Z6Z7,P54886,Q9BPU6,Q06124 13 |
| Curly hair 0.2913324839914394 0.1711812318096878 0.8640812645156861 1.0 1.0 11 P62140,P55795,Q6PGP7,Q9UQ13,Q96A33,Q9BPU6 6 |
| Proximal upper limb amyotrophy 0.344562897468741 0.1703164268935336 0.8647612932045445 1.0 1.0 6 Q9BTV4 1 |
| Abnormality of the musculature of the upper arm 0.344562897468741 0.1703164268935336 0.8647612932045445 1.0 1.0 6 Q9BTV4 1 |
| Abnormality of the intervertebral disk 0.3444260924262337 0.1699279783070364 0.8650667775948988 1.0 1.0 6 P62140,Q9UQ13 2 |
| Abnormal brainstem morphology 0.2394873505039819 0.1692304267150428 0.865615397879306 1.0 1.0 61 Q12756,O60313,Q9Y5P6,O60508,P19404,Q8N3U4,Q969G3,Q96S52,O43505,Q99986,P28331,Q9UN37,Q9UPN3,Q9NXE4,Q13217 15 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2358953904023149 0.1688392800440304 0.8659230608268664 1.0 1.0 62 Q5H8A4,Q9Y4R8,Q99575,P21281,Q9BZK7,Q96S52,Q9Y4A5,Q7Z6Z7,Q8N0X7,P55011,Q9BPU6,Q14683,Q15427,Q9H2M9,Q9H1A4,O00116,Q9UHX1,O96028,O14802,Q5JRA6,Q9UBM7,O96019,Q9Y619,P00813 24 |
| Abnormality of the pituitary gland 0.2785388147362022 0.1674519529488462 0.8670144496534695 1.0 1.0 44 Q15233,Q8N3U4,P61011,Q7Z392,Q969G3,P51809,P35222,O14802 8 |
| Prominent sternum 0.5528233151184028 0.1647572861407492 0.8691350252172656 1.0 1.0 2 O95831 1 |
| Reduced subcutaneous adipose tissue 0.3651014455473441 0.1639249490753221 0.8697902262464261 1.0 1.0 5 O14802 1 |
| Ventricular escape rhythm 0.3643842025995847 0.1621377783089114 0.8711973569893958 1.0 1.0 5 Q9BTV4 1 |
| Fatigable weakness of skeletal muscles 0.3640850176767509 0.1613950444759075 0.8717822694445629 1.0 1.0 5 Q9Y5P6 1 |
| Pulmonary artery stenosis 0.2840584521849632 0.160315177413837 0.8726328036580564 1.0 1.0 12 P62140,Q6PGP7,P51798,Q15056,P22681,Q06124 6 |
| Abnormal retinal morphology 0.2901180481794817 0.159907393163221 0.8729540245636291 1.0 1.0 147 P07602,Q8WWY3,P17900,Q5H8A4,Q9Y4R8,P53701,P35222,O14773,Q9UM54,P22570,P52732,O60313,Q9Y5P6,P19404,Q16851,P21964,P00403,P57076,Q13868,Q7Z6Z7,P55011,Q9BPU6,O95299,Q6P2Q9,P04062,Q9H2M9,A6NHR9,P68371,Q9UHX1,P28331,Q9UN37,P51812,O14802,Q5JRA6,O43505,Q9Y619,O96019,Q92947,Q9Y487,O95319,Q9NYB0,O75503,O75381 43 |
| Abnormal magnesium concentration 0.3634290925672455 0.1597723721047094 0.8730603883332484 1.0 1.0 5 P53680,P05023,Q9NP81,P61457 4 |
| Abnormality of the intrinsic pathway 0.3147098384526078 0.1592695019842303 0.873456547909091 1.0 1.0 8 Q9Y487 1 |
| Rapidly progressive 0.31465274973648 0.159093267880486 0.8735953921221922 1.0 1.0 8 Q14108 1 |
| Upper limb muscle weakness 0.2646940511428026 0.1580683843429635 0.8744029130153748 1.0 1.0 19 P50570,Q92734,Q8WXH0,Q9Y5P6,Q969G3,Q9BTV4 6 |
| Cirrhosis 0.2780235801105017 0.1569456318363032 0.8752876964530831 1.0 1.0 28 Q14739,P04062,P35222 3 |
| Abnormal gastrointestinal motility 0.264270084823921 0.1562998969418451 0.8757966375693389 1.0 1.0 19 Q9H3U1,Q8WX93,P00403,Q7Z392 4 |
| Abnormality of lysosomal metabolism 0.3618925893133485 0.1560018566312321 0.876031557760282 1.0 1.0 5 P51798 1 |
| Abnormality of the hypothalamus pituitary axis 0.2752859960422006 0.1558231944713434 0.8761723874006895 1.0 1.0 45 Q15233,Q8N3U4,P61011,Q7Z392,Q969G3,P51809,P35222,O14802 8 |
| Abnormal circulating sex hormone concentration 0.2641210542945588 0.1556802108354337 0.8762850964304121 1.0 1.0 19 Q969G3,O14802,P51809 3 |
| Prematurely aged appearance 0.2799330266439845 0.1552369728027494 0.8766345014968717 1.0 1.0 31 O60832,O95453,Q9BZK7,Q9H2M9,Q13126,Q9Y487,P54886,O14802,O75844,Q06124 10 |
| Restless legs 0.5473588342440858 0.154805863207094 0.8769743687671374 1.0 1.0 2 Q99497 1 |
| Abnormal ureter morphology 0.2773080943330644 0.1541277228735828 0.8775090297567003 1.0 1.0 13 Q96T60,P36776,O75844 3 |
| Abnormal male reproductive system physiology 0.2762502223888592 0.1535403824672062 0.8779721472262496 1.0 1.0 27 Q969G3,P57076,P04062,P51809 4 |
| Bulbous nose 0.2788586728199793 0.153210782369666 0.8782320549611491 1.0 1.0 30 P21281,P21964,Q7Z6Z7,P42892,Q9NXE4 5 |
| Abnormal pleura morphology 0.2641967309942961 0.1523340859843487 0.8789234419047356 1.0 1.0 15 Q14739,P14174,P52732,Q06124 4 |
| Neoplasm of the breast 0.2689379827706208 0.1521261310853594 0.8790874544412446 1.0 1.0 22 Q9NYB0,Q92878,Q15437 3 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.337877057278828 0.1517728697546835 0.879366081007622 1.0 1.0 6 Q9BTV4 1 |
| Abnormal palmar dermatoglyphics 0.2767181664366325 0.1512843891832299 0.8797513831738162 1.0 1.0 43 Q9Y487,Q9H9B1,Q9Y4R8,Q9BZK7,Q96S52,P21281,Q9UQ13,Q5SRE5,Q96ST3,P36776,Q9UHX1,P51812,O96028,O75381,Q9NXE4 15 |
| Glossoptosis 0.3584131326949243 0.1476225965915779 0.8826406209859647 1.0 1.0 5 O15160,Q9H9Y6,P08754,Q13428 4 |
| Pseudobulbar signs 0.3108782190408389 0.1476159388984008 0.8826458754918796 1.0 1.0 8 Q15233,P54886 2 |
| Infantile axial hypotonia 0.2991841602210884 0.1466987102921082 0.8833698366291811 1.0 1.0 9 P07602,P17900,Q8N3U4 3 |
| Preaxial polydactyly 0.3104946478266784 0.1464689719065204 0.8835511825625988 1.0 1.0 8 O96028,Q5H8A4,Q9UHX1 3 |
| Eeg with burst suppression 0.2989016775563765 0.1458244643839447 0.8840599625575083 1.0 1.0 9 Q96T60,Q96S52,Q13618 3 |
| Unusual fungal infection 0.3352411844271456 0.1447118036277678 0.8849384193165093 1.0 1.0 6 P02786 1 |
| Generalized lipodystrophy 0.378886345622495 0.1443865074542259 0.8851952706591941 1.0 1.0 4 O75844 1 |
| Micromelia 0.2568744420701313 0.1441299161823322 0.8853978816554404 1.0 1.0 17 Q14739,Q15392,Q9UHX1,Q9UBM7 4 |
| Spinal rigidity 0.3224077777639582 0.1439596057973312 0.8855323672064759 1.0 1.0 7 Q9BTV4 1 |
| Abnormal ureter physiology 0.2783437786172938 0.1415018759977969 0.8874734781233433 1.0 1.0 35 Q9H3U1,Q9H9B1,P42695,Q9UBM7,Q9Y4A5,P21964,Q9UHX1,Q15056,O14802 9 |
| Posterior embryotoxon 0.2969557715599868 0.1398602025719076 0.8887704459033858 1.0 1.0 9 P21964,P53701 2 |
| Abnormal morphology of myocardial trabeculae 0.4855527745780023 0.1395450575545342 0.8890194534332374 1.0 1.0 3 Q15233 1 |
| Sideroblastic anemia 0.3547651618786951 0.1390760997914249 0.8893900142676707 1.0 1.0 5 Q15031,O75027,Q9NVI1,P38646 4 |
| Gangrene 0.2963955115411943 0.1381618447040324 0.8901125093583315 1.0 1.0 9 P52732,Q9BZK7 2 |
| Abnormal pulmonary valve physiology 0.275493051601466 0.1380254692472445 0.8902202886468444 1.0 1.0 30 Q6PGP7,O95453,P15924,Q9UQ13,Q13618,O95235,Q15056,P54886,P55263,O14802,P00813,Q06124 12 |
| Epileptic spasm 0.2659372839860718 0.1366167781627521 0.8913337137969746 1.0 1.0 49 Q12756,Q00577,O60508,Q96C86,Q96T60,P36776,Q9UBB6,Q13618,Q92947,P28482,P55011,P15311 12 |
| Downturned corners of mouth 0.2740258024105426 0.1351450197657592 0.8924972160309137 1.0 1.0 29 Q9H9B1,Q5H8A4,Q9H490,Q9Y4R8,Q14683,P21281,O60341,Q9Y2U8,O96028,O14802 10 |
| Phthisis bulbi 0.3742023701002723 0.1348444601425385 0.8927348527224981 1.0 1.0 4 O60216,Q6KC79,Q14683 3 |
| Abnormal metabolism 0.2764454675308416 0.1348173293707721 0.8927563040715332 1.0 1.0 33 Q9Y487,P51571,P61011,Q05682 4 |
| Blepharitis 0.2802926383173337 0.1340848698826487 0.8933354636843314 1.0 1.0 11 O60216,O60832,Q9UQE7,P04080,Q14683,O95453,Q9NX24,P06748,P19447,Q6KC79 10 |
| Abnormality of the maxilla 0.2691541055450022 0.133659121748276 0.8936721311592326 1.0 1.0 25 O60832,O95453,Q9H2M9,P17612,Q14739,Q9Y619,Q05086 7 |
| Equinovarus deformity 0.4819925927434998 0.1335572930368494 0.8937526567613294 1.0 1.0 3 P21281 1 |
| Tracheomalacia 0.2826721307733209 0.1319931787665302 0.8949896870984957 1.0 1.0 10 Q9H2M9,Q9H9B1,Q9Y4A5 3 |
| Motor seizure 0.225702253525684 0.131924544287074 0.8950439747669596 1.0 1.0 80 Q12756,P07602,Q00577,P04062,O60508,Q96C86,Q96T60,P55011,P36776,Q13618,Q9UBB6,Q92947,P28482,Q9Y619,O75503,Q05086,P15311 17 |
| Moderate global developmental delay 0.3054794520548006 0.1318046559156848 0.8951388037965606 1.0 1.0 8 P29144,O95831,P21912,P17980,Q99714,O43175,P31040 7 |
| Narrow palate 0.2728978936007238 0.1302833402592163 0.8963422602710369 1.0 1.0 29 Q15233,P21281,P46109,Q96ST3,P28482,Q9Y619,Q9BPU6,Q06124 8 |
| Tapered finger 0.2752101243816486 0.1292362944195811 0.897170678214064 1.0 1.0 33 Q06136,Q12756,P42892,Q9Y4R8,P51812,O60341,Q7Z6Z7,P28482,Q9BPU6 9 |
| Vertebral clefting 0.3286614422060092 0.1277115354521066 0.8983772608815028 1.0 1.0 6 Q8N3U4 1 |
| Abnormality of the middle ear 0.2341065193386145 0.1256688987304341 0.8999940218646181 1.0 1.0 89 Q8WWY3,Q5H8A4,Q9Y4R8,P28482,Q16531,O75844,O60934,P29144,P21964,P57076,P78318,Q7Z6Z7,Q15056,Q14739,P55011,Q9BPU6,Q6P2Q9,Q14683,P51798,A6NHR9,Q9H1A4,O96028,O14802,Q9UBM7,Q86Y56,P36776,O96019,P00813 28 |
| Intellectual disability moderate 0.2537804533290896 0.1254187434296447 0.9001920501641552 1.0 1.0 54 Q12756,Q15021,Q9H269,P15311,Q12955,Q96C86,Q969G3,Q8N3U4,O14802,P31150,Q9UHX1,Q9UBB6,Q9BTW9,P51812,Q9NUQ7,P55011,Q8TAQ2 17 |
| Difficulty climbing stairs 0.2917329133121821 0.124357177959714 0.901032477130374 1.0 1.0 9 Q9Y5P6,Q92734,O75340 3 |
| Obsessive compulsive behavior 0.2735947044886794 0.1241055639541147 0.9012316928224248 1.0 1.0 32 Q9H269,Q05086,O75503,P46109 4 |
| Dystrophic fingernails 0.3024200801655129 0.1231649100149553 0.901976511712672 1.0 1.0 8 Q12756 1 |
| Abnormal morphology of the musculature of the neck 0.2767914897926635 0.1231163097937344 0.9020149961881304 1.0 1.0 11 Q9H269 1 |
| Abnormal glomerular mesangium morphology 0.2556086930255004 0.120789474553688 0.9038577871497888 1.0 1.0 15 O95470 1 |
| Neoplasm of the pancreas 0.2547277444264013 0.1187078714067606 0.9055068001671118 1.0 1.0 19 O60934,O60832,Q92878,O95453,P43246,Q8WX93,Q9NYB0 7 |
| Abnormal connection of the cardiac segments 0.2733226485543165 0.1183552886171791 0.9057861512167296 1.0 1.0 35 Q9H9B1,Q6PGP7,Q8N3U4,Q969G3,P21281,P21964,Q86Y56,P57076,Q9UHX1,Q15056,O75844,Q8TAQ2 12 |
| Leukocytosis 0.2565171476174982 0.1175806962360487 0.906399901002612 1.0 1.0 20 O15143,P61011 2 |
| Abnormality of the testis size 0.2564864887720369 0.117466152972161 0.9064906643346012 1.0 1.0 20 O43505,O15294,P51809 3 |
| Psychomotor deterioration 0.3002785086862891 0.1172562140245305 0.906657021751026 1.0 1.0 8 Q9Y487 1 |
| Abnormality of primary teeth 0.2738319142901346 0.1141484480951804 0.9091201171543088 1.0 1.0 11 Q00577,O75844,P51798 3 |
| Hemorrhage of the eye 0.2881154760090253 0.1140553119347408 0.9091939468876044 1.0 1.0 9 Q9Y487 1 |
| Abnormality of the calf musculature 0.288100223101514 0.1140126345424035 0.9092277778388338 1.0 1.0 9 Q9Y5P6,Q7Z392 2 |
| Increased nuchal translucency 0.2652489777397352 0.1133879453051295 0.9097229963288034 1.0 1.0 13 Q15056,Q9UBM7,Q15645,O60566 4 |
| Gray matter heterotopia 0.2571723003925829 0.1126472707868885 0.9103102068631396 1.0 1.0 21 P42695 1 |
| Abnormality of the nasal septum 0.3224825013652399 0.1125702910321994 0.910371239621328 1.0 1.0 6 Q15233,P21281 2 |
| Short face 0.4678815489749342 0.1113831371494488 0.9113125314554292 1.0 1.0 3 O15160,Q13428 2 |
| Abnormality of the internal auditory canal 0.4678815489749342 0.1113831371494488 0.9113125314554292 1.0 1.0 3 O15160,Q13428 2 |
| Narrow internal auditory canal 0.4678815489749342 0.1113831371494488 0.9113125314554292 1.0 1.0 3 O15160,Q13428 2 |
| Proximal muscle weakness 0.2688435852427449 0.1103973606894724 0.9120942462010596 1.0 1.0 43 P50570,Q92734,Q8WXH0,O60313,Q9Y5P6,P11047,Q7Z392,Q13126,P17612,P51114,Q8TD16,Q9BPX6,Q9BQT8,Q9BTV4 14 |
| Neuronal loss in central nervous system 0.2750298115458621 0.1092910307663898 0.9129716603932414 1.0 1.0 10 P07602,P04062,O43819,Q9BTW9 4 |
| Spondyloepimetaphyseal dysplasia 0.3605287146763878 0.1090607826087834 0.9131542802358372 1.0 1.0 4 O95831,Q9NSE4,Q14807 3 |
| Hypermethioninemia 0.3600011079755397 0.1081277681501888 0.9138943414841788 1.0 1.0 4 P55263 1 |
| Abnormal circulating methionine concentration 0.3600011079755397 0.1081277681501888 0.9138943414841788 1.0 1.0 4 P55263 1 |
| Combined immunodeficiency 0.3402818110559674 0.1075809921439896 0.9143280755413894 1.0 1.0 5 O60566 1 |
| Abnormality of the anterior fontanelle 0.2649429715239761 0.1063908345487786 0.9152722647760214 1.0 1.0 27 O75381,O75531,Q6NW34,Q9Y487,Q9Y619,O14802,Q9BPU6 7 |
| Neoplasm of the thyroid gland 0.2569592339722971 0.1049565501646285 0.9164102861707216 1.0 1.0 22 P42892,Q15437 2 |
| Resting tremor 0.2666814412927753 0.1038793184984077 0.9172651197486734 1.0 1.0 12 Q9BPX6,P07602,P04062,Q6Y7W6 4 |
| Hyperlipoproteinemia 0.318442046468923 0.1031050651035631 0.9178795850797388 1.0 1.0 6 Q9BTV4 1 |
| Increased ldl cholesterol concentration 0.318442046468923 0.1031050651035631 0.9178795850797388 1.0 1.0 6 Q9BTV4 1 |
| Multifocal seizures 0.3378646929506139 0.1027063358857473 0.918196044931738 1.0 1.0 5 Q96S52,Q14683 2 |
| Dermatological manifestations of systemic disorders 0.2641553232323212 0.1025997970519159 0.9182806039199748 1.0 1.0 46 Q9H3U1,O75381,Q15437,P51812,P48506,P11166,Q9H267,P04066,Q8WX93,P00374,Q14739,O43772,O75844,P08237 14 |
| Parakeratosis 0.3376231258561389 0.1022251760043486 0.918577944869352 1.0 1.0 5 Q15738 1 |
| Abnormality of blood circulation 0.2499255901401254 0.1018906109751225 0.9188435025324352 1.0 1.0 54 Q86W42,Q9Y487,P04062,Q969G3,P35222,Q14739 6 |
| Prominent eyelashes 0.2942774015411661 0.1013144468271008 0.919300848294616 1.0 1.0 8 Q969G3 1 |
| Back pain 0.2498097856033707 0.1010106090546476 0.919542038445629 1.0 1.0 19 P51798,Q969G3,Q8WX93,P54886,Q9BTV4 5 |
| Vascular dilatation 0.2649803653497984 0.1009192915307423 0.9196145288640364 1.0 1.0 45 Q9NSD9,Q9BPU6,P10253,Q9Y5P6,P54886,P46109,O96019,Q7Z6Z7,P28482,P55011,O75844,Q06124 12 |
| Sudden death 0.2426032244997962 0.1007374411454304 0.9197588888029378 1.0 1.0 16 Q9BTV4,Q14126,P0DP25,P15924 4 |
| Diffuse mesangial sclerosis 0.2557689326877064 0.1005506252885387 0.9199071932809616 1.0 1.0 14 O95470 1 |
| T lymphocytopenia 0.3367732052626163 0.1005409675682839 0.9199148601746676 1.0 1.0 5 O60934,Q7L590 2 |
| Spastic paraplegia 0.2683963629796345 0.0999623661716581 0.9203742031902188 1.0 1.0 33 Q12756,Q92734,O95299,P04062,O60313,Q9H2M9,P19404,P28331,P54886,Q9Y619 10 |
| Microcytic anemia 0.3170620437956227 0.0999515991208678 0.9203827512434624 1.0 1.0 6 Q15046,Q9UBX3,P22830,Q9BQT8,O75027 5 |
| Hepatic necrosis 0.3170235803419692 0.0998642854781648 0.9204520706270832 1.0 1.0 6 Q16134,P35222 2 |
| Pterygium 0.2824628674949222 0.0986792293929312 0.9213929609041104 1.0 1.0 9 O00469 1 |
| Apnea 0.241683767422715 0.0972698185970353 0.922512123589643 1.0 1.0 57 P07602,P25705,P11047,P51114,P35222,Q16531,O60313,P19404,Q8N3U4,Q15645,Q15233,O95299,Q00577,P04062,P51798,P11166,Q03001,P28331,P51812,O43772,O60566,P08754 22 |
| Vascular neoplasm 0.2637039771510578 0.0971574778307721 0.9226013360043424 1.0 1.0 28 Q5H8A4,Q15437,P10619,P61011,P21281,Q9UQ13,Q9UBM7,Q9UHX1,Q9Y2U8,O96028 10 |
| Developmental regression 0.2413888075576306 0.0966352567729883 0.9230160566554368 1.0 1.0 100 P07602,Q9H9P8,P35222,O14773,P22570,Q05682,P09543,P19404,Q16851,Q7Z392,O95470,P28331,O14802,Q9NR50,O95319,P82930,Q5JPH6,Q92947,Q96T60,O75503,O75381 21 |
| Exaggerated startle response 0.3037686742204869 0.0957539074695815 0.9237160255858744 1.0 1.0 7 Q00577 1 |
| Abnormal size of the palpebral fissures 0.2295851932170504 0.0955570302845423 0.9238723938307354 1.0 1.0 61 Q86W42,Q00577,Q9BZK7,P46109,O96019,Q13868,Q7Z6Z7,P28482,Q9Y619,P55011,Q9NXE4 11 |
| Pigmentary retinopathy 0.261996943813908 0.095174857630447 0.9241759400208072 1.0 1.0 27 Q8WWY3,Q9Y5P6,P19404,P53701,P28331,O14802 6 |
| Pes cavus 0.2191566772615708 0.0946471458204755 0.924595100942278 1.0 1.0 64 O60313,P04062,Q96T60,P21281,Q7Z392,P36776,O96019,Q7Z6Z7,Q14739,P54886,P55011 11 |
| Oral aversion 0.2916287771468381 0.0945688879219634 0.9246572628920438 1.0 1.0 8 Q969G3 1 |
| Polydactyly 0.2618181465000551 0.0945085060211676 0.9247052258627192 1.0 1.0 27 Q00577,Q5H8A4,Q8N3U4,O96028,P17612,P21964,Q9UHX1,Q14739 8 |
| High frequency sensorineural hearing impairment 0.3514257254893626 0.0936048591641681 0.9254230495105322 1.0 1.0 4 O75844 1 |
| Abnormal placenta morphology 0.3027102794969791 0.0932568965268271 0.9256994743865574 1.0 1.0 7 O75844 1 |
| Dysphagia 0.2340680865060909 0.0925454315172997 0.9262646969386912 1.0 1.0 93 P07602,Q9UDR5,P11047,O15344,P57678,Q92734,O60313,Q8N3U4,Q14739,Q14108,P55011,Q15233,P04062,Q9UHX1,P28331,P54886,O14802,P29372,Q12756,Q9UPN3,Q92947,Q05086 22 |
| Neoplasm of the larynx 0.4531265709916496 0.0908321530494702 0.927625961206186 1.0 1.0 3 P43246 1 |
| Facial hypotonia 0.2680684570169108 0.0901506893739171 0.9281674688749924 1.0 1.0 10 Q00577 1 |
| Abnormal iris pigmentation 0.2613040164585256 0.0884942057115206 0.9294838894452412 1.0 1.0 12 Q05086 1 |
| Emg abnormality 0.2555248909143579 0.0883776956859765 0.9295764881832906 1.0 1.0 50 O15269,P07602,P50570,Q92734,Q8WXH0,O60313,P04792,P15924,Q9Y5P6,A6NHR9,P11047,P51114,Q99986,O43681,O14773,Q14126,Q9BTV4 17 |
| Fragile skin 0.2886579029224213 0.0872153320670577 0.9305003525680136 1.0 1.0 8 P17612 1 |
| Abnormal muscle fiber morphology 0.2597513180712541 0.0868705855183208 0.9307743804635712 1.0 1.0 47 Q8WXH0,Q9NP81,O60313,Q9H2D1,Q9Y5P6,P11047,Q7Z392,Q70HW3,Q9BTV4,P51114,P00403,Q5JPH6,P08237 13 |
| Abnormal soft palate morphology 0.2450097632625057 0.0867510478478671 0.9308693990143068 1.0 1.0 55 Q15233,Q86W42,O43505,A6NHR9,Q8N3U4,P21281,Q15392,Q13618,P78318,Q9Y619,O14802,Q9NXE4 12 |
| Decreased light and dark adapted electroretinogram amplitude 0.4496583143507879 0.0863858601760697 0.9311596868547494 1.0 1.0 3 O43837,P50897 2 |
| Skeletal myopathy 0.3292293661650587 0.0861844403377399 0.9313197994934884 1.0 1.0 5 P40939,P21912,P55084,P31040 4 |
| Aplasia of the uterus 0.3106751824817544 0.0858847970446306 0.931557997052702 1.0 1.0 6 Q8IY37,Q9Y5S9,P30153,O96028,Q9UNW1 5 |
| Pectus carinatum 0.2604341362746287 0.084989946267407 0.932269383505994 1.0 1.0 28 P22681,P62140,Q9Y4R8,Q9H2M9,Q96S52,O00469,Q9BTW9,P51812,Q9Y619,P55011,Q06124 11 |
| Renal tubular atrophy 0.3459434822242515 0.0849500576219836 0.9323010953552378 1.0 1.0 4 Q96AX1,P57740,Q9NQH7 3 |
| Hyporeflexia of lower limbs 0.3102189781021901 0.0849132918051805 0.93233032462145 1.0 1.0 6 P55084,Q14204,Q9NYY8,P40939,P04792 5 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.4480151344653099 0.0843296407259437 0.9327943464401588 1.0 1.0 3 P15924 1 |
| Secondary microcephaly 0.2489790528867775 0.0838798997047115 0.9331519209435528 1.0 1.0 53 P09543,Q9H2M9,Q9UHX1,P28331,P00374,Q9Y487,Q96T60,Q05086,Q9NXE4 9 |
| Hallux valgus 0.2552045483472727 0.0834973020270143 0.9334561225733728 1.0 1.0 13 P21281,P04062 2 |
| Chorioretinal coloboma 0.4464692482915633 0.0824245429958975 0.9343091199609848 1.0 1.0 3 Q01082,Q10713 2 |
| Short clavicles 0.2979304885667959 0.0823049641269676 0.9344042070135844 1.0 1.0 7 Q15738 1 |
| Abnormality of the musculature of the thigh 0.2979071593906515 0.0822528151534537 0.9344456752703488 1.0 1.0 7 Q9BTV4 1 |
| Ketonuria 0.2856018059400732 0.0798860588222924 0.9363278778382556 1.0 1.0 8 Q96EY8 1 |
| Abnormality of coagulation 0.262841412832499 0.0789506212129505 0.937071898961537 1.0 1.0 42 O60832,Q7L590,O95453,Q9BZK7,Q9UQ13,Q9P2J5,Q9Y487,P51571,Q9Y619,O75381,Q06124 11 |
| Hernia 0.2352081055292836 0.0784288692585361 0.9374869099050996 1.0 1.0 96 Q5H8A4,Q969G3,P46109,P53701,P28482,Q8N3U4,Q96S52,Q9Y4A5,P21964,P04066,Q14739,A6NHR9,Q96ST3,Q9UHX1,Q15738,O96028,P54886,P51812,Q8TAQ2,Q6PGP7,Q9UQ13,Q9UBM7,Q15022,P36776,O00469,Q9Y487,Q96T60 27 |
| Myalgia 0.2572149498856649 0.0779199378684523 0.9378917395026828 1.0 1.0 27 O60313,P21964,P35222,Q14739,O14802 5 |
| Abnormal ovarian morphology 0.2449757920628459 0.077646680350807 0.9381091088920122 1.0 1.0 20 Q15437,P51809 2 |
| Bowing of the legs 0.2637630734289699 0.0769692695839853 0.9386479917426032 1.0 1.0 38 P51798,Q6NW34,Q16851,P17612,Q13126,Q9H1A4,P36776,O00469,Q9Y619 9 |
| Deviation of toes 0.2592503029699605 0.0767271078245663 0.9388406391769096 1.0 1.0 29 Q15233,P04062,P51812,Q15427,P21281,Q96J02,Q9BZI7,P31150,O96019,Q7Z6Z7,Q15056,P55011,Q9BPU6 13 |
| Turricephaly 0.3062795559292721 0.0767087349553889 0.9388552555289222 1.0 1.0 6 P21964 1 |
| Abnormality of lower limb joint 0.2599538324266437 0.075859258914096 0.939531070096961 1.0 1.0 123 P07602,Q9Y4R8,P11047,Q8TD16,Q9NUQ7,O75844,P57678,Q9Y5P6,Q6NW34,Q8N3U4,Q16851,P21964,P55011,Q15233,P51798,Q9H2M9,Q9H1A4,Q9UHX1,Q15738,P54886,Q12756,Q5JRA6,P37268,P17612,P36776,O00469,Q9Y487,Q9Y619,Q05086 29 |
| Multifocal cerebral white matter abnormalities 0.3393082153054391 0.0751239293287086 0.9401161087676332 1.0 1.0 4 Q9Y619 1 |
| Disproportionate short stature 0.2343340766165651 0.0744295109564682 0.9406686275727114 1.0 1.0 16 Q14807,Q15392,Q9UBM7,Q9UHX1,Q14739 5 |
| Toe walking 0.2393714327525308 0.0744060633726807 0.9406872843056536 1.0 1.0 18 P07602,P54886,Q8TD16,Q9BTV4 4 |
| Intestinal pseudo obstruction 0.3043006801907674 0.072712148824476 0.9420351807779312 1.0 1.0 6 Q8WX93 1 |
| Abnormality of the pancreas 0.2446743427987331 0.0720048562850647 0.942598043128896 1.0 1.0 54 O60934,O60832,P05166,Q92878,Q9Y4R8,P43246,O95453,Q6PGP7,P48506,P61011,P14174,P00403,Q8WX93,Q9UHX1,Q14739,Q9NYB0 16 |
| Tibial torsion 0.4890710382513741 0.0719139704097186 0.9426703720576928 1.0 1.0 2 Q9Y5S9 1 |
| Recurrent gastroenteritis 0.4369020501138868 0.0712598707191222 0.9431909325276442 1.0 1.0 3 Q96AX1,O00754 2 |
| Autoimmune hemolytic anemia 0.2812549037352313 0.069872579619585 0.9442950780665748 1.0 1.0 8 O60934,P29144,P00813 3 |
| Type 1 muscle fiber atrophy 0.2919773755077018 0.0694088910309478 0.944664151969959 1.0 1.0 7 Q9BTV4 1 |
| Abnormal bleeding 0.2138626038001228 0.0692172110761316 0.9448167235061002 1.0 1.0 76 P43246,Q969G3,Q13126,P35222,P28482,O75844,P50570,P05166,Q9BZK7,Q9H267,P21964,Q14739,Q14108,P04062,P51798,Q9UHX1,Q06124,Q6UN15,P17612,Q92947,Q9Y487,P62263 22 |
| Aplasia hypoplasia of the thymus 0.2538928190564661 0.068918206151593 0.9450547265618194 1.0 1.0 12 P21964,Q7L590,Q6PGP7 3 |
| Abnormality of the thymus 0.2538928190564661 0.068918206151593 0.9450547265618194 1.0 1.0 12 P21964,Q7L590,Q6PGP7 3 |
| Optic disc pallor 0.2577030483415588 0.0676841124627025 0.9460370967239636 1.0 1.0 30 P19404,Q9H061,Q8WWY3,O60313 4 |
| Distal peripheral sensory neuropathy 0.4334460836526739 0.0674875449019604 0.946193577148046 1.0 1.0 3 P00403 1 |
| Cranial asymmetry 0.3336641269822472 0.067316970383156 0.9463293671210165 1.0 1.0 4 O14802 1 |
| Cerebral visual impairment 0.2527161807452878 0.0661833572529945 0.947231846709114 1.0 1.0 49 Q12756,Q9H490,Q9Y4R8,P37268,Q9H2M9,Q96C86,Q8N3U4,Q96S52,Q9UBB6,Q9NUQ7,P55011,P15311 12 |
| Abnormal periventricular white matter morphology 0.2601326139228459 0.0659655245211762 0.9474052730936204 1.0 1.0 34 P07602,P09543,O60313,Q9Y5P6,P54886,P36776,Q9UHX1,P51571,O75503 9 |
| Aplasia hypoplasia of the gallbladder 0.4831511839708637 0.0657681970512652 0.9475623764730804 1.0 1.0 2 P18583 1 |
| J shaped sella turcica 0.4822404371584767 0.0648573201459544 0.9482876025978356 1.0 1.0 2 Q96AX1 1 |
| Deformed sella turcica 0.4822404371584767 0.0648573201459544 0.9482876025978356 1.0 1.0 2 Q96AX1 1 |
| Disproportionate short limb short stature 0.2481613022949449 0.0647478786225464 0.9483747411436144 1.0 1.0 13 Q14739 1 |
| Neoplasm of the nervous system 0.2603850708848234 0.0636532957771058 0.9492462938549048 1.0 1.0 37 Q15437,P11388,Q9H9P8,Q969G3,Q9UPY3,P35222,Q92947,Q9H269,Q06124 9 |
| Prenatal movement abnormality 0.2586013525544899 0.0634205359706516 0.9494316348274552 1.0 1.0 43 P50570,Q5H8A4,Q9BPU6,P04062,Q9Y5P6,Q96S52,Q70HW3,Q9UBM7,Q5SRE5,P51114,Q8TD16,Q96F07,O96028,O95319,P43897,O75844 16 |
| Chronic diarrhea 0.23683253816895 0.0627747254203557 0.9499458923566392 1.0 1.0 15 O60934,P00813,P09884,Q15904,Q96J02,Q9BT22,P02786,Q08J23 8 |
| Sparse scalp hair 0.256247839741525 0.0626782703069355 0.9500227011472306 1.0 1.0 30 O60832,Q14574,O95453,Q6NW34,Q969G3,Q9UQ13,O60341,O14802,P62304 9 |
| Status epilepticus 0.2597521910793384 0.0622275539404017 0.9503816201336428 1.0 1.0 40 Q12756,P07602,P52732,Q96F07,P11166,Q15392,Q96S52,P53701,P42892,Q9Y487,O95319,Q05682 12 |
| Pancreatic cysts 0.4264236902050022 0.0602381950304902 0.9519659256980748 1.0 1.0 3 Q9Y5S9,Q9NQH7 2 |
| Attention deficit hyperactivity disorder 0.2115959673059777 0.0600467532787653 0.952118398111033 1.0 1.0 75 P43246,P46109,P28482,Q16531,O60934,P52732,Q8N3U4,P21964,P31150,P52701,Q7Z6Z7,Q15056,P55011,Q9BPU6,P11166,Q9H1A4,Q96ST3,P51812,Q9UQ13,Q9UBM7,O96019,Q96F07,O95319,Q05086 24 |
| Psychotic episodes 0.4772313296903545 0.0600095657498424 0.9521480160557594 1.0 1.0 2 Q99497 1 |
| Oculogyric crisis 0.2658748286888999 0.058683752118758 0.9532040009638324 1.0 1.0 9 Q12756,Q00610,P61457,Q01105,P35270,Q14204,Q96JM3,Q05639 8 |
| Glutaric aciduria 0.3265169891782409 0.0581437877541537 0.9536340957842152 1.0 1.0 4 Q92947 1 |
| Elevated circulating glutaric acid concentration 0.3265169891782409 0.0581437877541537 0.9536340957842152 1.0 1.0 4 Q92947 1 |
| Type ii diabetes mellitus 0.247846964221542 0.0569115150552729 0.9546156814938462 1.0 1.0 25 Q8WWY3,O14802,P35222,Q9Y6M1 4 |
| Visual fixation instability 0.4220090738035263 0.0559604152072687 0.955373341807654 1.0 1.0 3 Q9UN37 1 |
| Areflexia of lower limbs 0.2483272723936473 0.055453281409451 0.955777348676534 1.0 1.0 12 P50570,P54886,O60313,Q13217 4 |
| Tetraplegia tetraparesis 0.2574399662557419 0.0546561500361317 0.9564124043120776 1.0 1.0 35 P07602,P17900,Q9H9P8,Q96T60,Q16851,Q9UDR5,P54886,Q5JPH6 8 |
| Abnormal lacrimal duct morphology 0.3098925328363562 0.0542002554910951 0.9567756171329918 1.0 1.0 5 A6NHR9 1 |
| Hydroureter 0.2938298092039224 0.0529478675642061 0.9577734450579672 1.0 1.0 6 P36776 1 |
| Choanal stenosis 0.4676684881602966 0.0514968178934739 0.958929637442152 1.0 1.0 2 P16435 1 |
| Foot dorsiflexor weakness 0.2381390281359696 0.0507818127196953 0.9594993835233796 1.0 1.0 21 O15269,A6NHR9,Q9BQT8,P54886,P51149,P04792,Q14739 7 |
| Proximal amyotrophy 0.2515636667243056 0.0506742074020708 0.9595851297472158 1.0 1.0 10 Q92734,Q9BTV4 2 |
| Rib fusion 0.3071949918228119 0.0502786982406784 0.9599002986377994 1.0 1.0 5 Q5H8A4 1 |
| Abnormality of the nasal alae 0.2511424776405254 0.0501500382076734 0.960002825150722 1.0 1.0 117 Q9H9B1,Q8WWY3,Q969G3,P35573,P21281,P46109,Q5KU26,P35222,O15344,P28482,P52732,Q9BZK7,Q15392,Q9Y4A5,O60341,Q13868,Q7Z6Z7,Q00577,Q6P2Q9,P04062,Q9H2M9,P11166,Q96ST3,Q9UHX1,P51812,O14802,P29372,Q8TAQ2,Q12756,Q6PGP7,O60566,Q9UQ13,Q9UBM7,P36776,P31939,Q9Y487,Q96T60,O75381 38 |
| Short attention span 0.2361960606726294 0.0498284319232404 0.9602591094210836 1.0 1.0 101 P07602,P43246,P61011,Q9UDR5,P46109,Q9UBB6,P28482,Q9NUQ7,Q16531,O60934,P52732,Q8N3U4,P21964,P00403,P31150,O43681,Q7Z6Z7,P52701,Q15056,P55011,Q9BPU6,Q00577,P11166,Q9H1A4,Q96ST3,P51812,Q96C86,Q96T60,Q9UQ13,Q9UBM7,O96019,Q96F07,O95319,Q05086,P15311 35 |
| Avascular necrosis of the capital femoral epiphysis 0.4131624178953948 0.0480172999454254 0.9617024551471588 1.0 1.0 3 Q9H3U1 1 |
| Premature graying of hair 0.2805592258790568 0.0469755866354533 0.9625326850852368 1.0 1.0 7 O60832,Q13126 2 |
| Accelerated skeletal maturation 0.2799195234483634 0.045807564484197 0.9634636295551068 1.0 1.0 7 Q15022,Q03164 2 |
| Paraplegia 0.2542636913609395 0.0453948185576807 0.9637926109239674 1.0 1.0 34 Q12756,Q92734,O95299,P04062,O60313,Q9H2M9,P19404,P28331,P54886,Q9Y619 10 |
| Functional abnormality of the middle ear 0.2153951506892949 0.0451349687502501 0.9639997287811524 1.0 1.0 63 Q8WWY3,Q9BPU6,Q6P2Q9,Q9Y4R8,A6NHR9,P21964,P36776,P57076,O96019,P78318,Q7Z6Z7,O96028,P55011,O75844 14 |
| Obstructive sleep apnea 0.2591468131022967 0.0446376848554531 0.9643961044125612 1.0 1.0 9 Q15233,P08754,P51114 3 |
| Abnormal arachnoid mater morphology 0.2689066797539012 0.0440551001499659 0.9648604828993425 1.0 1.0 8 Q9UHX1,Q15904 2 |
| Abnormal qt interval 0.2686323307800372 0.0435253333934753 0.9652827705302678 1.0 1.0 8 P0DP25 1 |
| Constipation 0.2008137909375389 0.0430918437187993 0.9656283210311458 1.0 1.0 67 P43246,P09543,P05166,Q8N3U4,Q16851,Q96S52,P21964,O60341,P00403,P78318,P52701,Q15056,P42892,Q8N0X7,P55011,Q6Y7W6,P04062,Q14683,Q9BTW9,P37268,Q9UBM7,P82930,Q05086 23 |
| Bradykinesia 0.2342824865575075 0.0427532764056086 0.9658982099329104 1.0 1.0 14 P04062 1 |
| Generalized hyperreflexia 0.3126709206927963 0.0425600304763818 0.9660522576604064 1.0 1.0 4 P19447,P26639,P11166 3 |
| Abnormal thyroid morphology 0.2525399388528515 0.0418669663424827 0.966604750336779 1.0 1.0 33 P42892,Q15738,Q15437 3 |
| Displacement of the urethral meatus 0.2252964890313599 0.041653310640459 0.9667750743428618 1.0 1.0 91 Q86W42,Q5H8A4,Q969G3,P53701,O15344,P51571,O75844,P51809,P21964,O60341,Q7Z6Z7,O95453,A6NHR9,Q96ST3,Q9UHX1,O96028,P46783,O14802,P29372,Q06124,Q8TAQ2,O60832,O15294,Q6PGP7,P37268,O60566,Q9Y619,O75381 28 |
| Abnormality of the larynx 0.2535914359204954 0.0414160867181272 0.9669641884538018 1.0 1.0 35 P07602,Q14807,P43246,Q9UBM7,Q15165,P21964,P36776,Q9UHX1,P52701,Q14739,O14802 11 |
| Overgrowth 0.2997674125897547 0.040144555251637 0.967977880458288 1.0 1.0 5 Q15022,Q9UPY3 2 |
| Intestinal hypoplasia 0.3099361896080219 0.0398104611682324 0.968244236038091 1.0 1.0 4 Q99567,P21333,O75844 3 |
| Loss of subcutaneous adipose tissue in limbs 0.3099361896080208 0.0398104611682312 0.9682442360380918 1.0 1.0 4 O75431,Q03252,O75844 3 |
| Neoplasm of the small intestine 0.3099361896080196 0.0398104611682301 0.9682442360380928 1.0 1.0 4 P21912,P31040,P43246 3 |
| Suicidal ideation 0.4521857923497286 0.0396651916785431 0.968360052842 1.0 1.0 2 Q01082 1 |
| Neuronal loss in basal ganglia 0.3094280151120058 0.0393110894588427 0.9686423653419348 1.0 1.0 4 Q99986 1 |
| Delayed cranial suture closure 0.2393454549034542 0.0375053361238721 0.9700820855303344 1.0 1.0 24 O75381,O75531,Q9Y487,P54886,O14802,O75844 6 |
| Recurrent herpes 0.3977220956719741 0.0360642980834749 0.9712310897999984 1.0 1.0 3 P29144,P54132 2 |
| Jaundice 0.2522406974233026 0.0355602566729076 0.9716329988445552 1.0 1.0 36 Q9H3U1,Q15437,P48506,P11166,Q9H267,Q8WX93,P00374,Q14739,O75381,P08237 10 |
| Neoplasm of the inner ear 0.4453551912568355 0.0351610242994036 0.9719513411036228 1.0 1.0 2 P10644 1 |
| Abnormality of the vestibulocochlear nerve 0.4453551912568355 0.0351610242994036 0.9719513411036228 1.0 1.0 2 P10644 1 |
| Neoplasm of the ear 0.4453551912568355 0.0351610242994036 0.9719513411036228 1.0 1.0 2 P10644 1 |
| Abnormal tendon morphology 0.2737843652192426 0.0347878791565708 0.97224888581447 1.0 1.0 146 Q86W42,Q9Y4R8,Q99575,P46109,Q92979,Q8TD16,Q9Y2U8,P28482,O75844,Q92734,O60313,P15924,Q9Y5P6,Q15392,Q8N3U4,Q96S52,P04066,P42892,Q7Z6Z7,Q9NXE4,O75531,P04062,Q9H2M9,Q03001,Q15738,P54886,O14802,Q12756,P37268,P36776,P82930,Q99986,O00469,Q9Y619,Q9BTV4 35 |
| Heparan sulfate excretion in urine 0.3949886104783542 0.03418765190333 0.9727275131398688 1.0 1.0 3 Q96AX1,P15586 2 |
| Coma 0.2432263891694857 0.0341817534825463 0.9727322166496956 1.0 1.0 27 Q9Y619,O43772,P35222,Q96EY8 4 |
| Slowly progressive 0.2521095075802276 0.0341013596997673 0.9727963242334814 1.0 1.0 37 O00584,Q12756,O15020,O14773,P54886,Q9BTV4 6 |
| Oral cleft 0.2504129919197982 0.0323417227600331 0.9741995366434038 1.0 1.0 119 Q5H8A4,Q9Y4R8,P21281,P46109,Q92979,O15344,P28482,O75844,O60934,P15924,Q9Y5P6,Q15392,Q8N3U4,Q9Y4A5,P21964,P78318,Q14739,Q15645,Q9NXE4,Q15233,A6NHR9,Q9UHX1,Q13618,Q15738,O96028,P46783,O14802,P29372,Q06124,Q6PGP7,O60566,O43505,P08754,Q96T60,Q9Y619,Q5JPH6 36 |
| Chronic fatigue 0.281312953563767 0.0323311746415558 0.9742079484252596 1.0 1.0 6 Q8WX93 1 |
| Abnormal pons morphology 0.2241654153443417 0.0320774387460984 0.9744102954222208 1.0 1.0 15 Q9Y5P6,Q99986,Q9UN37 3 |
| Oral cavity bleeding 0.2715511056421203 0.0313825707010584 0.9749644408708518 1.0 1.0 7 Q9BZK7 1 |
| Abnormal scalp morphology 0.2296506727713131 0.0311070768417056 0.9751841458986434 1.0 1.0 97 Q86W42,Q5H8A4,Q14574,Q969G3,P21281,O15344,P28482,P62304,O60934,Q9BZK7,Q6NW34,Q8N3U4,Q16851,O60341,Q92643,Q7Z6Z7,Q9NXE4,O95453,Q9H2M9,Q96ST3,O96028,P46783,O14802,P29372,Q06124,O60832,Q9UQ13 27 |
| Ischemic stroke 0.4380692167577453 0.0308055712899788 0.9754245972832868 1.0 1.0 2 P18583 1 |
| Polygenic inheritance 0.298085688240655 0.0290792504382855 0.9768013845506932 1.0 1.0 4 O60934,P35658,P50454 3 |
| Abnormal circulating phenylalanine concentration 0.4307832422586559 0.0268872696548059 0.9785496471917684 1.0 1.0 2 P35270 1 |
| Abnormality iris morphology 0.2357163045922053 0.0268832237239907 0.978552874211018 1.0 1.0 54 Q05086,Q5H8A4,Q9Y5P6,O43505,A6NHR9,P11047,Q7Z392,P53701,Q96ST3,Q9UHX1,P78318,O96028,P28482,O75381,Q15645 15 |
| Axonal degeneration 0.2887227791722727 0.0268227449743488 0.978601111876796 1.0 1.0 5 Q9BQT8,Q92734 2 |
| Brittle hair 0.2346193421239437 0.0267235839363919 0.9786802025866996 1.0 1.0 12 Q9Y487,O75844 2 |
| Diminished motivation 0.2239078232860176 0.0267093336614298 0.9786915686039988 1.0 1.0 19 Q9H9B1,P17900,P04062,Q8N3U4,Q6Y7W6 5 |
| Hyperammonemia 0.243332684309073 0.026638597024032 0.978747988199996 1.0 1.0 29 Q9Y619,O43772,Q96EY8,Q05682 4 |
| Retinal thinning 0.4298724954462688 0.0264268597847196 0.9789168706180098 1.0 1.0 2 P04439 1 |
| Opisthotonus 0.2282735054421694 0.0255187692439406 0.9796411776701296 1.0 1.0 21 Q92947,P07602,P04062,O60313 4 |
| Abnormality of the odontoid process 0.2872777017783789 0.0252292580015316 0.9798720998693138 1.0 1.0 5 O95831,P36776,P21333,P16278 4 |
| Cutis laxa 0.2257538194423268 0.0252131292955394 0.9798849646224695 1.0 1.0 20 Q9Y487,O96000,Q6NW34,Q15022,P51812,Q15056,P54886 7 |
| Gastrointestinal hemorrhage 0.2303547311668899 0.0250845861018335 0.979987494823542 1.0 1.0 22 Q14739,P35222 2 |
| Hypogonadism 0.2181603757782809 0.0247986010585297 0.980215606910066 1.0 1.0 61 Q8WWY3,Q6P2Q9,O60313,Q9H2M9,A6NHR9,Q969G3,O95470,P51809,Q9H1A4,P35222,Q9UN37,O14802,Q06124 13 |
| Pituitary growth hormone cell adenoma 0.4262295081967251 0.0246481743266364 0.9803355934006333 1.0 1.0 2 P10644 1 |
| Urinary retention 0.3791863748154789 0.024641599810111 0.9803408375130622 1.0 1.0 3 P54886 1 |
| Shallow orbits 0.2670013692377972 0.02419699554878 0.9806954746347312 1.0 1.0 7 P02545,P50454,O75431,P07237,O75844,O75369 6 |
| Scleral staphyloma 0.3781110063431896 0.0240686157803446 0.9807978770462844 1.0 1.0 3 Q9UN37 1 |
| Mottled pigmentation 0.3778499019400899 0.0239308961639028 0.980907729760382 1.0 1.0 3 O75844 1 |
| Abnormal morphology of the limbic system 0.2473579810442953 0.0229891258754268 0.9816589469526812 1.0 1.0 9 Q12756,Q9HA77,Q9BPU6 3 |
| Underdeveloped supraorbital ridges 0.2470691268373917 0.0225050459915095 0.9820450869013796 1.0 1.0 9 P52732,O75381,Q6PGP7 3 |
| Ectopic kidney 0.2466773265361442 0.0218519243357867 0.9825660744287632 1.0 1.0 9 Q9Y2U8,Q9UHX1 2 |
| Epiphyseal dysplasia 0.2871467639015474 0.0207807360287665 0.9834205648435366 1.0 1.0 4 Q9HC07,P38646,Q14807 3 |
| Aplasia hypoplasia of metatarsal bones 0.2871467639015473 0.0207807360287665 0.9834205648435366 1.0 1.0 4 P10644,P21333,Q96S52 3 |
| Abnormality of the extraocular muscles 0.41666666666667 0.0204371187780525 0.9836946735243766 1.0 1.0 2 Q9BVA1 1 |
| Abnormal rectum morphology 0.23042809262235 0.0201823292318676 0.9838979242457332 1.0 1.0 23 Q15437,P43246,P51812,Q9UPY3,P53701,P36776,P52701,Q15056,Q16531 9 |
| Abnormality of reproductive system physiology 0.2336889437497793 0.0195668343046534 0.98438892115644 1.0 1.0 103 Q86W42,Q8WWY3,Q969G3,P35222,O60313,Q9BZK7,P51809,P57076,Q15645,Q6P2Q9,P04062,Q9H2M9,O95470,A6NHR9,Q9H1A4,Q9UN37,O14802,Q06124,Q9NR50 19 |
| Food allergy 0.368564920273343 0.0193787978189498 0.9845389241224788 1.0 1.0 3 Q9Y5S9,Q01082 2 |
| Basal ganglia calcification 0.2722416863186748 0.0193767348456757 0.984540569827995 1.0 1.0 6 O60313 1 |
| Abnormal circulating free fatty acid concentration 0.3681093394077403 0.019172196793348 0.9847037372701816 1.0 1.0 3 P40939,O75431 2 |
| Abnormal c peptide level 0.3681093394077404 0.019172196793348 0.9847037372701816 1.0 1.0 3 A5YKK6,P40939 2 |
| Fulminant hepatic failure 0.3681093394077405 0.019172196793348 0.9847037372701816 1.0 1.0 3 Q96RP9,P40939 2 |
| Hiatus hernia 0.2633500684618959 0.0187580959331419 0.9850340825366926 1.0 1.0 7 P57740,Q8WUM0,Q9Y3C4,P54886,Q6KC79,Q8NBU5 6 |
| Areflexia 0.2140413991928136 0.0184918192119476 0.985246503774312 1.0 1.0 62 O15269,P11047,P51114,Q8TD16,Q9BQT8,P50570,Q92734,O60313,P10253,Q9Y5P6,Q13217,Q03001,Q8TEQ6,Q9BTW9,P54886,O14653,P04792,Q12756,O75340,O43505,Q96T60,P51149 22 |
| Difficulty standing 0.2835004557885117 0.0183337728144626 0.9853725851800568 1.0 1.0 4 Q15813,Q8WVX9,Q92734 3 |
| Autistic behavior 0.2622498904449982 0.0180457489394565 0.9856023569671312 1.0 1.0 135 Q9H9B1,Q5H8A4,Q12955,P61011,Q969G3,P21281,Q5KU26,P35222,Q9UBB6,Q9NUQ7,O75746,P19404,Q16851,Q8N3U4,Q96S52,Q9Y4A5,P21964,P31150,Q7Z6Z7,Q15056,P55011,Q9BPU6,Q15233,O96000,P11166,Q96ST3,Q9UHX1,P28331,Q13618,P51812,P54886,Q8TAQ2,Q12756,Q15437,Q96C86,Q96T60,Q9UBM7,O96019,Q96F07,O95319,O75503,Q05086,P15311 43 |
| Protruding ear 0.2460858687643131 0.0180279464813187 0.985616558963283 1.0 1.0 35 Q06136,P52732,O43505,Q7Z6Z7,Q9NXE4,Q06124 6 |
| Urinary tract neoplasm 0.2352679850439797 0.017815505748783 0.9857860349245096 1.0 1.0 26 Q15437,P35222,P51809 3 |
| Nasolacrimal duct obstruction 0.2821330902461256 0.0174553691218988 0.9860733376970297 1.0 1.0 4 Q9UQE7,P62140,Q13428 3 |
| Ectrodactyly 0.2527773146227465 0.0160709404520697 0.9871777966807856 1.0 1.0 8 O96028,Q5H8A4,Q9UBM7 3 |
| Albinism 0.4048269581056457 0.0160669164822007 0.9871810069297304 1.0 1.0 2 O14617 1 |
| Small epiphyses 0.3603644646924731 0.0158863836077477 0.9873250329400448 1.0 1.0 3 O95831,Q14807 2 |
| Non hodgkin lymphoma 0.2777137359033002 0.015517866356214 0.9876190309179456 1.0 1.0 5 O60934,P00813 2 |
| Limb dystonia 0.2248404321940963 0.0153605198970161 0.9877445602662828 1.0 1.0 13 Q9H269,Q8N3U4 2 |
| Craniofacial hyperostosis 0.3580865603644605 0.0149984651657417 0.9880334048656856 1.0 1.0 3 P51812,P19447 2 |
| Depressed nasal tip 0.3580865603644574 0.0149984651657406 0.9880334048656864 1.0 1.0 3 Q01082,Q03164 2 |
| Stridor 0.3580865603644554 0.0149984651657398 0.9880334048656872 1.0 1.0 3 Q96AX1,Q14807 2 |
| Abnormal joint morphology 0.3042684973586845 0.0146804445685218 0.9882871206523144 1.0 1.0 192 P07602,Q9Y4R8,Q99575,P61011,P11047,P46109,Q92979,Q8TD16,Q9Y2U8,P28482,P51571,Q9NUQ7,O75844,P08237,P57678,Q9Y5P6,Q6NW34,Q15392,Q16851,Q8N3U4,P21964,P42892,Q14739,Q14108,P55011,Q15233,P04062,P51798,Q9H2M9,Q9H1A4,P14174,Q9UHX1,Q15738,P54886,O14802,Q06124,Q12756,O60832,Q5JRA6,P37268,Q9UQ13,P17612,P36776,O00469,Q92947,Q9Y487,Q9Y619,Q05086,Q9BTV4 49 |
| Leukoencephalopathy 0.2027998450397995 0.0139790182130147 0.9888467204430468 1.0 1.0 73 O00584,P07602,P09543,Q9NR50,Q12756,O60313,Q9H9P8,Q9Y5P6,P19404,P54886,P36776,Q9UHX1,P28331,Q5JPH6,P51571,O75503 16 |
| Decreased patellar reflex 0.3552089695042013 0.0139254884160557 0.9888894268846432 1.0 1.0 3 Q14204 1 |
| Abnormal circulating protein concentration 0.227971018089022 0.0136748750576994 0.989089368373647 1.0 1.0 98 P61011,P35573,P11047,Q9UDR5,P35222,P50570,Q92734,Q9NSD9,P10253,P15924,Q9Y5P6,Q7Z392,Q15056,Q14126,Q8WXH0,O95470,A6NHR9,Q86YH6,P14174,Q9BPX6,Q9BTW9,Q14C86,O14653,O43772,Q08J23,P43897,Q7L590,Q6PGP7,O43505,Q9Y487,Q9BTV4 31 |
| Abnormal circulating aromatic amino acid concentration 0.3539863325740293 0.0134856703790745 0.9892403179453392 1.0 1.0 3 P61457,P35270 2 |
| Asymmetric septal hypertrophy 0.3948087431694015 0.0130170723647661 0.989614172237127 1.0 1.0 2 P15586 1 |
| Progressive microcephaly 0.2391882726952793 0.0123304847784701 0.9901619458663692 1.0 1.0 30 Q9Y487,Q96T60,P28331,Q9NXE4 4 |
| Pseudobulbar paralysis 0.266455184968472 0.011952878251038 0.9904632100758076 1.0 1.0 6 Q15233 1 |
| Progressive distal muscle weakness 0.3435079726651454 0.0100879725985062 0.99195109893309 1.0 1.0 3 P40939,Q7Z406 2 |
| Chronic hepatic failure 0.3435079726651422 0.0100879725985051 0.9919510989330907 1.0 1.0 3 P40939,Q10713 2 |
| Abnormal length of corpus callosum 0.3797814207650271 0.0093982893647105 0.992501360407879 1.0 1.0 2 P11177 1 |
| Cervical spinal canal stenosis 0.3770491803278671 0.0088489099240197 0.9929396835327132 1.0 1.0 2 Q8IWS0 1 |
| Abnormality of t cell physiology 0.2470011413287212 0.0075703849270922 0.9939597644424428 1.0 1.0 8 P21964,P11172 2 |
| Tracheoesophageal fistula 0.2159796980394472 0.0073735809880453 0.994116786883276 1.0 1.0 14 O60832,P55011,O95453 3 |
| Increased c peptide level 0.3679417122040057 0.0072290585461855 0.9942320960346608 1.0 1.0 2 P40939 1 |
| Hyperintensity of cerebral white matter on mri 0.2050950727014732 0.0063362090629492 0.9949444704425264 1.0 1.0 16 P07602,P09543,P17900,P10253,O43681,O75503 6 |
| Nonprogressive cerebellar ataxia 0.3615664845173051 0.0062712121957092 0.9949963294090248 1.0 1.0 2 Q69YN2 1 |
| Deviation of the 2nd finger 0.3579234972677608 0.0057824786157357 0.9953862753009102 1.0 1.0 2 Q9Y3E5 1 |
| Subglottic stenosis 0.3579234972677606 0.0057824786157357 0.9953862753009102 1.0 1.0 2 Q7Z2Z2 1 |
| Delirium 0.3538251366120231 0.0052796518634724 0.9957874668622632 1.0 1.0 2 P26358 1 |
| Delayed cns myelination 0.2296268022966698 0.0049418523683382 0.9960569883428516 1.0 1.0 26 Q9H490,O60508,Q96S52,P35222,Q9UBB6,Q13618 6 |
| Abnormal dental root morphology 0.2603577579667097 0.0048115615425865 0.9961609441448998 1.0 1.0 6 O60832 1 |
| Equinus calcaneus 0.3433515482695802 0.0041976755728996 0.9966507493050278 1.0 1.0 2 P40939 1 |
| Mild global developmental delay 0.2176988066053434 0.0039260507037084 0.9968674728059804 1.0 1.0 13 Q15233,Q9UDR5,P35222 3 |
| Abnormal protein o linked glycosylation 0.3369763205828757 0.0036645175246525 0.9970761445882136 1.0 1.0 2 Q15904 1 |
| Delayed puberty 0.2419955841425662 0.0036462303630403 0.997090735534644 1.0 1.0 44 P04062,Q9H2M9,P51809,P35222,Q14108,O14802 6 |
| Protein losing enteropathy 0.3356102003642987 0.0035612200624013 0.997158563500576 1.0 1.0 2 Q9BT22 1 |
| Short upper lip 0.3102505694760781 0.0029601616834964 0.9976381361445864 1.0 1.0 3 O96028,Q8N766 2 |
| Onion bulb formation 0.3097949886104733 0.0028937151253244 0.9976911526003648 1.0 1.0 3 P50570,O95140 2 |
| Abnormality of retinal pigmentation 0.2397208362235687 0.0028594242727497 0.997718512629012 1.0 1.0 47 Q8WWY3,P52732,O95299,Q9Y5P6,Q9H2M9,P19404,P53701,P35222,P28331,O14802 10 |
| Tachypnea 0.2200793618176371 0.0028137767164689 0.9977549339628748 1.0 1.0 12 P50747,P05166,Q9Y619,Q9NSD9 4 |
| Impaired horizontal smooth pursuit 0.3123861566484486 0.0022842564044766 0.9981774286669304 1.0 1.0 2 P35251 1 |
| Morphological abnormality of the middle ear 0.3034168564920231 0.0020343839123221 0.9983767976052752 1.0 1.0 3 Q15029,Q12830 2 |
| Coronal craniosynostosis 0.248795955569963 0.0018267881915161 0.9985424347168192 1.0 1.0 4 P07237 1 |
| Abnormal cerebral cortex morphology 0.2827783216171785 0.0011984545814624 0.9990437718215316 1.0 1.0 164 Q9H9B1,O75381,Q969G3,P21281,Q5KU26,Q13885,Q8TD16,Q9UBB6,Q9NUQ7,P22570,P52732,Q9BZK7,Q9Y5P6,Q15392,Q16851,P42695,Q96S52,Q9H267,Q9Y4A5,P00403,Q7Z6Z7,P55011,Q9BPU6,Q9NXE4,P04062,O95453,O60508,Q9H2M9,Q96ST3,Q9UN37,Q15738,P51812,P54886,O14802,Q8TAQ2,Q12756,O60832,O43505,P37268,Q96C86,Q9UBM7,Q15022,P36776,O96019,Q9UPN3,Q92947,Q9Y487,Q96T60,Q9Y619,O75503,Q05086,P15311 52 |
| Absent forearm bone 0.2870159453302929 0.0003550835707329 0.9997166843070712 1.0 1.0 3 Q15427,Q9Y5S9 2 |
| Broad distal phalanx of finger 0.2870159453302919 0.0003550835707329 0.9997166843070712 1.0 1.0 3 P21333,Q14807 2 |
| Hepatitis 0.218315503154868 0.0003442439517322 0.999725333071188 1.0 1.0 12 Q9Y619,P35222,Q9H267 3 |
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