| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Prominent calcaneus 0.9111111111111116 3.835715938341344 0.0001251990477966 0.4365619846728631 0.0025724755022606 2 Q7RTS9 1 |
| Abnormality of the mitochondrion 0.484969507229146 3.7892581049915575 0.0001510978612195 0.499617618678486 0.0028143512199517 98 Q9Y2R0,Q96CU9,O75306,Q86Y39,O43676,Q9UI09,Q4J6C6,Q16134,O43772,Q7KZN9,Q9BUB7,O75880,P51530,P03886,P12235,P03915,O95298,Q8N183,Q86SX6,Q96RR1,Q9P0J0,Q9Y223,Q9UBX3,P22570,Q70HW3,P53597,P00403,Q9Y375,P26358,P23786,P11310,P13073,Q96DP5 33 |
| Painless fractures due to injury 0.898278560250392 3.7755190637852554 0.0001596748112899 0.5189039799855267 0.002873863319068 2 Q12756 1 |
| Congenital ptosis 0.8970266040688496 3.769621759836738 0.0001634951329894 0.5272534862954165 0.002881287305221 2 P51530 1 |
| Abnormal factor ix activity 0.8923317683880919 3.747467842493836 0.0001786287289127 0.5589292326919965 0.0030654563141501 2 Q10469 1 |
| Joint hemorrhage 0.8923317683880947 3.747467842493836 0.0001786287289127 0.5589292326919965 0.0030654563141501 2 P49257 1 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.8773082942097037 3.6761572072680178 0.0002367736462896 0.6621067646245979 0.0036977190950872 2 O75962 1 |
| Recurrent upper and lower respiratory tract infections 0.8682316118935653 3.6327608738755504 0.0002804048528055 0.7233480893885459 0.0042125083132953 2 Q10469 1 |
| Fibrosarcoma 0.8478873239436401 3.5346197680708564 0.0004083623229054 0.8461070909526847 0.0055854213837392 2 Q13126 1 |
| Deviated nasal septum 0.8469483568075136 3.530060611819535 0.0004154644748699 0.8510364724584674 0.0056321249226453 2 Q15233 1 |
| Progressive visual field defects 0.8422535211267625 3.507225237337963 0.0004528057024264 0.8744718949645417 0.0059616025175885 2 P35222 1 |
| Abnormal urine hormone level 0.8300469483568097 3.447541950200985 0.0005657125469302 0.9251918435853308 0.0068938693883896 2 P10644 1 |
| Increased urinary cortisol level 0.8300469483568097 3.447541950200985 0.0005657125469302 0.9251918435853308 0.0068938693883896 2 P10644 1 |
| Abnormal circulating dehydroepiandrosterone concentration 0.8300469483567849 3.447541950200985 0.0005657125469302 0.9251918435853308 0.0068938693883896 2 Q13423 1 |
| Abnormal circulating lipid concentration 0.483710738721795 3.4463242468685733 0.0005682680708924 0.9260631856495632 0.0069066427077703 77 Q8N511,P22830,Q92734,O43772,Q15392,O75880,O95470,P40855,O96011,Q15800,O75844,P34913,Q9Y6B6,Q9UBM7,Q8NFG4,P49257,Q9NZJ7,O75845,O43709,P23786,P11310 21 |
| Thoracolumbar kyphoscoliosis 0.827856025039099 3.4367815584110293 0.0005886701565969 0.9326653876619644 0.0071168513391215 2 Q10469 1 |
| Pancreatic islet cell hyperplasia 0.8190923317683905 3.3935923701390984 0.000689822899357 0.9576530640742706 0.0079217256262004 2 P16930 1 |
| Moderate albuminuria 0.906918861417894 3.3916273046506764 0.0006947887789232 0.9586063849256216 0.0079389580673974 3 Q9Y5U9 1 |
| Deposits immunoreactive to beta amyloid protein 0.8140845070422562 3.368806036191954 0.000754945351995 0.968584880795318 0.008320766954593 2 O96008 1 |
| Facial capillary hemangioma 0.8963681903569111 3.344066480669803 0.0008255995071453 0.9772788570544024 0.0088800397693425 3 Q9UBM7,Q10469 2 |
| Abnormal number of granulocyte precursors 0.8065727699530543 3.331479532598791 0.0008638565226251 0.9809350026807184 0.0092697671818928 2 Q07020 1 |
| Bacterial endocarditis 0.804068857589987 3.3189979058909804 0.0009034110689485 0.9840978418783078 0.0094292244144013 2 P10644 1 |
| Increased circulating androgen concentration 0.8000000000000029 3.2986729251040448 0.0009714302651335 0.9883594063771348 0.009964582087379 2 P04637 1 |
| Abnormal response to endocrine stimulation test 0.8817288058566433 3.2775978578312124 0.0010469443368217 0.9917670579807544 0.0105199538406078 3 Q13423 1 |
| Increased serum lactate 0.4158641998575974 3.2376653689552284 0.0012051207306142 0.996014900981148 0.0118725617884984 116 O75306,Q86Y39,Q86VD7,Q9UI09,Q7KZN9,Q9BUB7,Q96DA6,O75880,Q9Y276,O95831,P03886,O14949,Q6P4A7,P12235,P03915,O95298,Q8N183,Q96RR1,P22695,Q8NI60,Q9P0J0,Q9UBX3,Q70HW3,O43819,P00403,P35610,Q5JTZ9,Q9NVI7,Q9Y375,Q9UGM6,P13073,Q96DP5 32 |
| Decreased corneal reflex 0.87287165293284 3.237110374642453 0.0012074669998778 0.9960575649318368 0.0118725617884984 3 Q2TAA5 1 |
| Proportionate tall stature 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 P21359 1 |
| Adrenocorticotropic hormone deficiency 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 P04637 1 |
| Sudden loss of visual acuity 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 P35222 1 |
| Elevated circulating growth hormone concentration 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 P10644 1 |
| Facial erythema 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 Q9H1A4 1 |
| Pituitary prolactin cell adenoma 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 P10644 1 |
| Long penis 0.784663536776216 3.2215877737183782 0.0012748240750761 0.9971055794937944 0.0122973556042085 2 O14802 1 |
| Limited knee extension 0.7821596244131279 3.2089303845579997 0.0013322974591032 0.9977764652863824 0.0127203238445322 2 Q7RTS9 1 |
| Somatic mosaicism 0.7790297339593145 3.1930799513801036 0.0014076396666973 0.998426336153118 0.0130584230513493 2 P61586 1 |
| Mottled pigmentation 0.8501789975423173 3.1324244999992277 0.0017336901049076 0.9996475712366432 0.0147760478446514 3 O75844 1 |
| Prominent sternum 0.8424286164669144 3.0963513509797314 0.0019591806540883 0.9998748216463548 0.0161747130757352 3 O95831 1 |
| Abnormal sweat gland morphology 0.8422471374911089 3.0955047121662194 0.0019647825096256 0.999877999958014 0.0161917867969506 3 O75844 1 |
| Pseudoarthrosis 0.8365045354323255 3.0686674803742227 0.0021501576916058 0.999947914786061 0.0173314114903184 3 O75844 1 |
| Peripheral hypermyelination 0.7539906103286422 3.0651139422849782 0.0021758708480155 0.9999537154584052 0.0174297906042171 2 P07196 1 |
| Hypertrophic nerve changes 0.753990610328612 3.065113942284826 0.0021758708480166 0.9999537154584056 0.0174297906042171 2 Q8TB36 1 |
| Abnormality of the vestibulocochlear nerve 0.7521126760563419 3.055432153851303 0.0022473644293183 0.9999666686516736 0.0177840689481273 2 P10644 1 |
| Neoplasm of the inner ear 0.7521126760563419 3.055432153851303 0.0022473644293183 0.9999666686516736 0.0177840689481273 2 P10644 1 |
| Multiple glomerular cysts 0.8326652904340741 3.050674591852289 0.0022832788777278 0.9999717366838412 0.0177840689481273 3 P03886 1 |
| Low plasma citrulline 0.8326652904340741 3.050674591852289 0.0022832788777278 0.9999717366838412 0.0177840689481273 3 P03886 1 |
| Vascular tortuosity 0.8326652904340741 3.050674591852289 0.0022832788777278 0.9999717366838412 0.0177840689481273 3 P03886 1 |
| Retinal arterial tortuosity 0.8326652904340741 3.050674591852289 0.0022832788777278 0.9999717366838412 0.0177840689481273 3 P03886 1 |
| Leber optic atrophy 0.8326652904340741 3.050674591852289 0.0022832788777278 0.9999717366838412 0.0177840689481273 3 P03886 1 |
| Decreased cd4 cd8 ratio 0.915612356808852 3.0492421519068738 0.0022941947821477 0.9999731186347928 0.0178169499861034 4 Q13432 1 |
| Anasarca 0.7430359937402231 3.0084685682779373 0.0026256796098818 0.9999941360450264 0.0199093903203018 2 Q9NSD9 1 |
| Abnormality of endocrine pancreas physiology 0.817971492721443 2.9814324035816875 0.0028690337699024 0.9999980831108396 0.0210671678424567 3 P16930 1 |
| Foot acroosteolysis 0.8957245822341301 2.9633109764572643 0.0030434892275086 0.99999914017068 0.02217053678926 4 O75844 1 |
| Osteolysis involving bones of the feet 0.8957245822341301 2.9633109764572643 0.0030434892275086 0.99999914017068 0.02217053678926 4 O75844 1 |
| Reduced consciousness confusion 0.3844499297406664 2.957755866175762 0.0030988744666315 0.9999993334088108 0.0225024450176005 129 O14802,P36551,Q07020,O75306,Q86Y39,O43676,Q16134,P18077,O43772,Q96IX5,Q969G3,P03886,P12235,P03915,Q9NZ08,Q8N183,Q9Y6N5,Q96RR1,O43681,Q9H936,Q13423,P30038,P18074,O43819,P00403,Q12756,O96008,Q9Y375,Q9UBM7,P60866,P35610,P35222,O14678,Q9NZJ7,P26358,P04062,Q8NBM4,P23786,P11310,P62857 40 |
| Atlantoaxial instability 0.7311424100156234 2.946504274783118 0.0032138797674585 0.999999607100393 0.0231540834819106 2 Q7RTS9 1 |
| Multiple mitochondrial dna deletions 0.8093412745208883 2.940481363773994 0.0032770271386979 0.9999997060908312 0.0234614661711154 3 P12235 1 |
| Nocturia 0.8093412745208883 2.940481363773994 0.0032770271386979 0.9999997060908312 0.0234614661711154 3 P12235 1 |
| Hypopigmentation of the fundus 0.7295774647887161 2.9383148166245645 0.0033000173741255 0.999999735568576 0.0235100346335958 2 P38435 1 |
| Abnormality of amino acid metabolism 0.7267605633802863 2.923552414318461 0.0034606195713076 0.9999998736309316 0.0243572332960544 2 P18074 1 |
| Flat nasal alae 0.7267605633802863 2.923552414318461 0.0034606195713076 0.9999998736309316 0.0243572332960544 2 P18074 1 |
| Abnormal shoulder physiology 0.8029339829947157 2.90994172275274 0.0036149615483733 0.9999999378530956 0.0251346795366415 3 O75844 1 |
| Concentric hypertrophic cardiomyopathy 0.882337506936522 2.9049456925841275 0.0036731682706987 0.9999999524480704 0.025423651082087 4 P03915,P03886 2 |
| Hypolipidemia 0.7226917057902642 2.9021802736428977 0.0037057522076362 0.9999999590656364 0.0255642535967399 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.7226917057902642 2.9021802736428977 0.0037057522076362 0.9999999590656364 0.0255642535967399 2 Q9Y6B6 1 |
| Abnormal activity of mitochondrial respiratory chain 0.50536812391358 2.9018028030902396 0.003710220131347 0.9999999598981818 0.0255642535967399 57 Q9Y2R0,Q7KZN9,Q9UBX3,Q70HW3,O75306,O43676,P03886,Q9Y375,O95298,Q8N183,Q96DP5 11 |
| Deep set nails 0.7205007824726177 2.890648296576211 0.0038444809878781 0.9999999783737932 0.0262498536598971 2 Q15022 1 |
| Abnormal hypothalamus morphology 0.7974784394965064 2.8838461556036 0.0039285062261076 0.9999999853065756 0.0266891887221319 3 Q9H269 1 |
| Left ventricular noncompaction cardiomyopathy 0.7189358372456754 2.882400898685323 0.0039465725749927 0.9999999864783404 0.0267502892583089 2 Q15233 1 |
| Aortic valve calcification 0.7927892014444051 2.8613478516846658 0.0042184392704422 0.999999996129076 0.0282620972092485 3 O75844 1 |
| Axillary pterygium 0.7148669796557102 2.8609174977586687 0.0042241696201821 0.9999999962298098 0.0282620972092485 2 O15111 1 |
| Congenital localized absence of skin 0.7142410015649499 2.8576071986462455 0.0042684842632705 0.9999999969252924 0.0284689882013181 2 Q15149 1 |
| Aplasia cutis congenita over the scalp vertex 0.7142410015649499 2.8576071986462455 0.0042684842632705 0.9999999969252924 0.0284689882013181 2 Q15149 1 |
| Metaphyseal cupping 0.791797119599249 2.8565798730443035 0.0042823224431169 0.9999999971149822 0.0284783765375415 3 Q14739,O95831 2 |
| Elevated circulating long chain fatty acid concentration 0.7917971195992368 2.8565798730442378 0.0042823224431178 0.9999999971149822 0.0284783765375415 3 P40855,P23786 2 |
| Abnormal renal corticomedullary differentiation 0.7133020344287767 2.8526391648263014 0.0043357823119456 0.9999999977441704 0.0285439002203088 2 Q6KC79 1 |
| Reduced renal corticomedullary differentiation 0.7133020344287767 2.8526391648263014 0.0043357823119456 0.9999999977441704 0.0285439002203088 2 Q6KC79 1 |
| Lagopthalmos 0.7885899529238584 2.841146693377216 0.0044951629855585 0.9999999989167164 0.0292984876242235 3 O75844 1 |
| Prominent nasal tip 0.786133940799927 2.82930803344481 0.0046648776138409 0.999999999504017 0.030147347287192 3 Q8NFG4 1 |
| Submucous cleft soft palate 0.7859810779295395 2.8285706145638967 0.0046756384799699 0.9999999995279882 0.0301743317115809 3 Q15233 1 |
| Renal fanconi syndrome 0.7844147117515641 2.8210104742557234 0.0047872639764681 0.999999999717662 0.0304536454228416 3 Q9Y276 1 |
| Stuttering 0.8630574466108012 2.820138220867918 0.0048002967732108 0.9999999997341052 0.0304639332615677 4 P03915,P03886 2 |
| Congenital craniofacial dysostosis 0.706416275430362 2.8161118625236576 0.004860873851221 0.999999999798822 0.0306717809201314 2 P10644 1 |
| Absent distal phalanges 0.7064162754303556 2.8161118625236137 0.0048608738512216 0.999999999798822 0.0306717809201314 2 O15111 1 |
| Chromosomal breakage induced by crosslinking agents 0.7029733959311265 2.797785245457271 0.0051454311356962 0.9999999999457396 0.0322522099367442 2 P13073 1 |
| Sensorimotor neuropathy 0.5831882289600724 2.7734911779040226 0.0055458344056125 0.9999999999914212 0.033939973779132 34 Q9Y2R0,P00403,Q12756,P39210,P41440,O95831,Q9NZJ7,P03886,P18887,Q92734,P03915 11 |
| Agenesis of cerebellar vermis 0.6970266040688324 2.7660307978743996 0.0056743175582925 0.9999999999952542 0.0344677678735496 2 Q10713 1 |
| Neonatal breathing dysregulation 0.6970266040688324 2.7660307978743996 0.0056743175582925 0.9999999999952542 0.0344677678735496 2 Q10713 1 |
| Giant platelets 0.6967136150234791 2.764356013682937 0.0057035272842185 0.999999999995852 0.0344769947444449 2 Q14739 1 |
| Spontaneous recurrent epistaxis 0.696713615023479 2.764356013682937 0.0057035272842185 0.999999999995852 0.0344769947444449 2 P04062 1 |
| Skin appendage neoplasm 0.7713741867793091 2.7577924833434637 0.0058193127368499 0.9999999999975672 0.0347641342376097 3 Q8NFG4 1 |
| Recurrent pancreatitis 0.8483730710290582 2.7549445208926184 0.0058702088371322 0.999999999998076 0.0350225219944533 4 P03915,P03886 2 |
| Ambiguous genitalia male 0.7656406354026666 2.7298397532057637 0.006336511824478 0.9999999999997758 0.0370587265860231 3 Q15392 1 |
| Schistocytosis 0.8400644199519935 2.717824141004876 0.0065712754418756 0.999999999999924 0.0381617035166972 4 P41440 1 |
| Anteverted ears 0.6848200312988909 2.7004536622288513 0.0069244982257741 0.9999999999999852 0.0394546996366888 2 P27635 1 |
| Bilateral cleft lip 0.753020467799714 2.667970998011901 0.0076310845008449 0.9999999999999994 0.0420278464925225 3 O15111 1 |
| Hypochromic microcytic anemia 0.7523481527864722 2.6646618137406555 0.0077065780220724 0.9999999999999996 0.0421378764882289 3 Q96DA6,O75027 2 |
| Physical urticaria 0.6757433489827823 2.65134245492619 0.008017250617853 1.0 0.0436283163076042 2 Q6P1M0 1 |
| Muscle abnormality related to mitochondrial dysfunction 0.5280439342659877 2.634809291622108 0.0084184567436478 1.0 0.0456489571590465 40 Q9Y2R0,P51530,O75306,Q86Y39,O43676,P03886,P12235,P03915,Q9Y375,Q9UBX3,Q8N183 11 |
| Acral ulceration 0.7453249671653956 2.6300127030489846 0.0085381677709117 1.0 0.0459922430729354 3 Q12756 1 |
| Autoamputation of digits 0.7453249671653956 2.6300127030489846 0.0085381677709117 1.0 0.0459922430729354 3 Q12756 1 |
| Staring gaze 0.6704225352112732 2.6224138842734512 0.0087309329564593 1.0 0.046626031243003 2 P53007 1 |
| Choking episodes 0.6704225352112732 2.6224138842734512 0.0087309329564593 1.0 0.046626031243003 2 P53007 1 |
| Arm dystonia 0.8123313591987658 2.5926903991991668 0.0095228453582536 1.0 0.0500960705298716 4 Q99720 1 |
| Enlarged ovaries 0.7364118347173318 2.5858272734339645 0.009714559889584 1.0 0.0508709867589417 3 P16435 1 |
| Abnormality of acid base homeostasis 0.3623375151311692 2.5845760739638224 0.0097498793153489 1.0 0.0508814886365934 180 O75306,Q86Y39,O43676,P48735,Q86VD7,Q9Y2R9,Q9UI09,P16930,Q16134,Q7KZN9,Q9BUB7,Q96DA6,O75880,Q9Y276,O95831,P03886,O14949,Q10713,Q6P4A7,P12235,P03915,O95298,Q8N183,Q9Y6N5,Q96RR1,P39210,P22695,Q8NI60,Q9P0J0,Q9UBX3,O43819,Q70HW3,P53597,P00403,Q9Y375,P35610,O14678,Q5JTZ9,Q9NVI7,P23786,P11310,Q9UGM6,P13073,Q96DP5 44 |
| Saccadic smooth pursuit 0.8093156037936002 2.5789679832355605 0.0099095970781093 1.0 0.0515389033052179 4 Q10713,Q06787 2 |
| Low back pain 0.6585289514866989 2.557375621132725 0.0105465266351627 1.0 0.0546035989178709 2 Q8WVX9 1 |
| Hyporeflexia of upper limbs 0.7303412403637323 2.555596818114704 0.0106005866295433 1.0 0.0548215439464644 3 Q15067 1 |
| Abnormal glycosylation 0.615226047393123 2.543316953588596 0.0109805573375281 1.0 0.0562690828428164 25 O75340,Q9H0U3,Q8N511,P46977,Q10469,Q8TCJ2 6 |
| Abnormal granulocytopoietic cell morphology 0.7238572323105716 2.5231850814877164 0.0116297173791166 1.0 0.059340050146005 3 O75533,Q07020 2 |
| Exercise intolerance 0.5515621885831586 2.5171476408407227 0.011830924131434 1.0 0.0600989959758656 34 Q9Y2R0,P00403,Q96RR1,Q9Y276,P51530,Q9H2D1,P03886,P12235,P23786,P03915 10 |
| Central diabetes insipidus 0.6507042253520998 2.5143037266144534 0.0119267669186771 1.0 0.0603850232280425 2 P35222 1 |
| Thin nail 0.7207263619286075 2.5074893137038456 0.0121592258191349 1.0 0.0610894437535926 3 Q9H1A4,Q15022 2 |
| Optic nerve dysplasia 0.7198130270165307 2.50290497573084 0.0123178611235816 1.0 0.0617384951921517 3 O43505 1 |
| Narrow palm 0.6485133020344349 2.502203112422182 0.0123423093836776 1.0 0.0617384951921517 2 Q9BPU6 1 |
| Abnormal pelvis bone morphology 0.7195215766592604 2.5014415565623977 0.0123688855497641 1.0 0.0617500959717103 3 Q7RTS9 1 |
| Abnormal oral mucosa morphology 0.4610706625387319 2.4907078854817155 0.0127488889339897 1.0 0.0629869450116751 59 Q12756,Q15392,Q93008,P78527,Q5JRA6,Q9Y5U9,Q9UBM7,P49257,Q10469,O75845,O43709,Q8NBM4,Q9NZ08,O95453,Q7Z2Z2 15 |
| Agammaglobulinemia 0.6463223787167434 2.4900847541019573 0.0127712635968353 1.0 0.0629869450116751 2 Q9NRZ9 1 |
| Episodic respiratory distress 0.7895924549996634 2.488661840277243 0.012822486226333 1.0 0.0629869450116751 4 P03886 1 |
| Severe lactic acidosis 0.716572015472684 2.4866168747136976 0.0128964200925549 1.0 0.0632670201970952 3 Q70HW3 1 |
| Dicarboxylic aciduria 0.5914713495606846 2.4799959241945326 0.013138388451513 1.0 0.0642477010510488 27 Q16134,O43772,Q9H9P8,Q96DA6,O75880,O14678,P48735,P23786,P11310,P53597 10 |
| Ureterocele 0.7150907952410677 2.479162235109112 0.0131691391627586 1.0 0.0642609112287114 3 Q9H936,O14936 2 |
| Abnormal metabolism 0.4736741635318825 2.4727587588349382 0.0134074613559611 1.0 0.0650773177256504 54 O75340,Q9H0U3,Q8N511,P41440,P46977,Q10469,Q9Y6B6,Q8TCJ2,Q2TAA5 9 |
| Tritanomaly 0.7116721353705897 2.461931536711277 0.0138191042733786 1.0 0.0667391781981875 3 Q9H6K4 1 |
| Anomalous trichromacy 0.7116721353705897 2.461931536711277 0.0138191042733786 1.0 0.0667391781981875 3 Q9H6K4 1 |
| Episodic ataxia 0.7109868894032425 2.4584735044441968 0.0139529071893569 1.0 0.0672263099281109 3 Q9H936 1 |
| Orchitis 0.7819897029296885 2.453590384556807 0.0141437989952892 1.0 0.0678606146559324 4 Q9NZ08 1 |
| Pleuritis 0.7819897029296885 2.453590384556807 0.0141437989952892 1.0 0.0678606146559324 4 Q9NZ08 1 |
| Pulmonary embolism 0.7819897029296885 2.453590384556807 0.0141437989952892 1.0 0.0678606146559324 4 Q9NZ08 1 |
| Retinal thinning 0.6378716744913921 2.4431760279583123 0.0145586343190355 1.0 0.069150297900103 2 P51648 1 |
| Epiretinal membrane 0.6378716744913769 2.4431760279582244 0.0145586343190391 1.0 0.069150297900103 2 P35222 1 |
| Retinal perforation 0.6378716744913769 2.4431760279582244 0.0145586343190391 1.0 0.069150297900103 2 P35222 1 |
| Abnormal qrs complex 0.6369327073552468 2.437947604060817 0.0147709148071673 1.0 0.0699176979818601 2 Q9BTV4 1 |
| Sea blue histiocytosis 0.6366197183098654 2.4362040690514193 0.0148423085265958 1.0 0.0701244675917247 2 O15118 1 |
| Aplasia hypoplasia of the nasal bone 0.7049735721017625 2.4280667433580008 0.0151795495095035 1.0 0.0715562714532356 3 P10644 1 |
| Punctate cataract 0.775011819957026 2.421273323301091 0.0154662435047043 1.0 0.0725346240926872 4 Q8WWV3 1 |
| Optic disc coloboma 0.7007171312836378 2.4064774018994948 0.0161072005113891 1.0 0.0751560007568075 3 Q10713 1 |
| Phocomelia 0.700017098160258 2.402921453437143 0.0162646805327615 1.0 0.0757365510173916 3 Q6KC79 1 |
| Mixed demyelinating and axonal polyneuropathy 0.8207232891512881 2.3949281644993814 0.0166236217992004 1.0 0.0769388233171073 5 P03915,P00403,P03886 3 |
| Recurrent sinusitis 0.8187110666445716 2.386072722673033 0.0170293832027594 1.0 0.0784996316247927 5 Q13432 1 |
| Action tremor 0.4451727666708532 2.3844468552013978 0.0171048183880464 1.0 0.0787681184462601 61 Q9BRK0,Q96DA6,Q9BUB7,Q15233,O43681,P41440,O75306,O14773,Q9H6K4,P03886,Q9NQH7,Q99720,O15020,Q9Y287,Q9NZJ7,P03915,P29084,Q06787 18 |
| Abnormal cellular phenotype 0.3484279985659351 2.3830272041673344 0.0171709253652747 1.0 0.0789931526342258 192 Q9Y2R0,P42345,O14773,O75306,O43676,Q86Y39,Q9UI09,Q92643,Q06787,P04637,Q16134,O43772,Q7KZN9,Q9BUB7,Q969G3,O75880,P51530,P09601,Q10469,P03886,Q96RD7,P12235,P03915,O95298,Q8N183,O95453,Q86SX6,Q14739,Q96RR1,O75844,Q9P0J0,Q9Y223,P21964,P29084,P18074,Q9UBX3,P22570,Q70HW3,Q9UJW0,P53597,Q9NRZ9,P00403,Q9H0U3,Q9Y375,P26038,Q9NZJ7,P26358,P23786,P11310,P13073,Q96DP5 51 |
| Hamartomatous polyposis 0.624726134585296 2.369680128629212 0.0178034804741904 1.0 0.0813545218952165 2 P20585 1 |
| Ventricular escape rhythm 0.7628667690599555 2.364732418150736 0.0180431020212814 1.0 0.0820988018485716 4 Q9BTV4,P50402 2 |
| Spastic paraparetic gait 0.8131188642341188 2.3614149309275994 0.0182053482430277 1.0 0.0826728499995572 5 Q15041,Q12756 2 |
| Mitral valve calcification 0.7593253873826953 2.348175549854841 0.0188656273339535 1.0 0.0852820483811272 4 O75844 1 |
| Cardiac valve calcification 0.7593253873826953 2.348175549854841 0.0188656273339535 1.0 0.0852820483811272 4 O75844 1 |
| Impaired proprioception 0.502986236354833 2.3470699306421987 0.0189217030832267 1.0 0.0853339011095913 39 O75298,Q96RR1,Q9BRK0,P41440,O14773,Q8WVX9,Q9H6K4,Q9Y6B6,Q8IV08,O15020,P18887,O43819,Q06787,P07196 14 |
| Scotoma 0.678171193493026 2.3309331577409584 0.019756884544984 1.0 0.0880603550438879 15 O75306,Q9H6K4,P03886,Q9Y287,Q9H061,Q8WWV3,P03915,O43395 8 |
| Neoplasm of the middle ear 0.6165884194053276 2.323860797684898 0.0201329559462277 1.0 0.089302230537866 2 Q96L73 1 |
| Tall chin 0.6165884194053276 2.323860797684898 0.0201329559462277 1.0 0.089302230537866 2 Q96L73 1 |
| Sacrococcygeal teratoma 0.6165884194053276 2.323860797684898 0.0201329559462277 1.0 0.089302230537866 2 Q96L73 1 |
| Bilateral camptodactyly 0.6165884194053276 2.323860797684898 0.0201329559462277 1.0 0.089302230537866 2 Q96L73 1 |
| Dystrophic toenail 0.8001866218741286 2.304125218440999 0.021215615488944 1.0 0.0932022532793302 5 O75844,Q12756 2 |
| Craniofacial asymmetry 0.680191332866342 2.301594471249985 0.0213580522235914 1.0 0.0933803390157404 3 O95202 1 |
| Preaxial foot polydactyly 0.680191332866342 2.301594471249985 0.0213580522235914 1.0 0.0933803390157404 3 O95202 1 |
| Abnormal sternal ossification 0.680191332866342 2.301594471249985 0.0213580522235914 1.0 0.0933803390157404 3 O95202 1 |
| Abnormal circulating fatty acid anion concentration 0.6977522431099152 2.300563893226761 0.0214162939034601 1.0 0.0935457184610622 14 P11310,O43772,P23786 3 |
| Slowly progressive 0.4408596926183996 2.2972611640607683 0.0216038758153396 1.0 0.0940959686177625 60 Q12756,Q9BRK0,O75340,P51530,P41440,O14773,O95831,P05023,Q8N2K0,Q99720,O15020,Q8IV08,Q92734,P12235,P50402,P07196 16 |
| Elevated circulating parathyroid hormone level 0.6788974397766929 2.2949400407881275 0.0217365607140807 1.0 0.0942637285080478 3 P21359 1 |
| Migraine 0.5649358080819568 2.2851406732094146 0.0223045805500985 1.0 0.0962693591302738 27 Q9Y6N5,O96011,Q96RR1,P00403,P60866,P03886,Q8NBM4,P12235,P03915,Q9NZ08 10 |
| Emg axonal abnormality 0.675015654351898 2.274945727480591 0.0229091857555361 1.0 0.0979196726976367 3 Q9Y223,Q92734 2 |
| Abnormal circulating fatty acid concentration 0.606225236752028 2.2681879515444563 0.0233177534932889 1.0 0.0990702678434239 21 O43772,O96011,O75880,P23786,P11310 5 |
| Central scotoma 0.7384140437580049 2.2677286341978764 0.0233457514807926 1.0 0.0990702678434239 12 O75306,Q9H6K4,P03886,Q9H061,Q8WWV3,P03915 6 |
| Memory impairment 0.4812254407010934 2.2653810854960916 0.0234893040190029 1.0 0.0993794930887087 41 P00403,Q96RR1,Q9BRK0,Q969G3,O96008,O43681,P60866,P21359,Q9NZJ7,P03886,Q9Y223,Q8NBM4,P03915,Q9NZ08,Q06787,Q8WVX9 16 |
| Malrotation of small bowel 0.7409048857868703 2.26154510585981 0.0237255228699986 1.0 0.1001016075417437 4 O95202,Q8NCH0 2 |
| Depletion of mitochondrial dna in muscle tissue 0.7902719170602174 2.2599507451836764 0.0238243079514852 1.0 0.100333620435391 5 Q9UBX3,Q96RR1,P12235 3 |
| Absent thumbnail 0.6718847839699253 2.258785951481672 0.0238967028245724 1.0 0.1005460903050422 3 Q9H936,O14936 2 |
| Viral hepatitis 0.670834862041005 2.253360203103469 0.0242364466631772 1.0 0.1016954199731485 3 P35222 1 |
| Subacute progressive viral hepatitis 0.670834862041005 2.253360203103469 0.0242364466631772 1.0 0.1016954199731485 3 P35222 1 |
| Protrusio acetabuli 0.6686358371954915 2.2419853519700603 0.0249623190265033 1.0 0.1041419169239821 3 Q96AY3 1 |
| Upper eyelid coloboma 0.6006259780907739 2.233269986960643 0.0255311454745283 1.0 0.1056763401664761 2 Q6NUK1 1 |
| Rieger anomaly 0.7336864881575836 2.22736471043329 0.0259229089352004 1.0 0.1068154395153672 4 Q12948,O95202 2 |
| Abnormality of the alveolar ridges 0.8328444634194818 2.225094373636698 0.0260749033808038 1.0 0.1073451997222312 6 Q15392 1 |
| Widely patent fontanelles and sutures 0.7314117596742928 2.2165664023064258 0.0266527355957846 1.0 0.1091356876674577 4 O75844 1 |
| Decreased plasma carnitine 0.727576399543396 2.2127348448762727 0.0269159315907945 1.0 0.1097231303816908 12 P11310,O43772,P23786 3 |
| Abnormal circulating citrulline concentration 0.7792341901627908 2.2105158533235394 0.0270693815046145 1.0 0.1102505831592391 5 P03886 1 |
| Bulbar signs 0.6808540434520642 2.2077693648548173 0.0272603546441643 1.0 0.1109297912784732 14 O43681,Q9NZJ7,P03886,Q99720,Q92734,P03915 6 |
| Abnormality of coordination 0.2898528289393776 2.204128277599424 0.0275153239821317 1.0 0.1118679809104948 329 O14773,P37198,Q99720,Q9UI09,P00374,P07196,Q9BUB7,Q96DA6,P41440,P03886,Q8N2K0,O15020,O14949,Q6P4A7,P03915,O95470,O96011,Q15067,Q9P0J0,P29084,P18074,P22570,O43819,O75298,O75340,Q96JM3,P26358,Q8IV08,P04062,P18887,P11310,Q96DP5,O14802,O14653,P26640,O95319,O43676,Q86VD7,Q8WWV3,Q6DKK2,Q7KZN9,O95831,Q2TAA5,Q9NZ08,Q8N183,Q86SX6,Q9H936,Q14671,Q12756,Q9NZJ7,Q8NBM4,O15460,Q9Y375,Q9UGM6,O75306,Q86Y39,Q9H6K4,Q7RTS9,Q92643,Q96IX5,Q10713,P12235,P40855,Q15233,P39210,O43681,O75962,O43292,Q9Y287,P00403,O43709,Q5JTZ9,Q9NVI7,Q99986,Q06787,P27635,Q9Y276,Q969G3,O95453,Q8TC12,Q96RR1,Q8NI60,O95202,Q9C0E8,O96008,P35610,P21359,Q9BPX6,Q96GW9,P61981 90 |
| Tibial bowing 0.7285528312031682 2.202976495590264 0.0275964053259505 1.0 0.1120233344955416 4 Q32P28 1 |
| Abnormal brain lactate level by mrs 0.6788809350120246 2.196876868707597 0.0280292412716018 1.0 0.1131541704902906 14 Q9Y6N5,P00403,O75306,P03886,P03915,O43819 6 |
| Wide nasal ridge 0.7261903005754152 2.191730807056411 0.028398949884826 1.0 0.1144450205560888 4 P27635,Q15022 2 |
| Renal cortical microcysts 0.5931142410015722 2.19031257347693 0.0285015755819206 1.0 0.1146569089695878 2 Q6PGP7 1 |
| Septo optic dysplasia 0.5912363067292647 2.179540715215561 0.0292915234615107 1.0 0.1166034253170969 2 Q8WWQ0 1 |
| Lethargy 0.3858448848166851 2.179206424239549 0.0293163369125308 1.0 0.1166034253170969 81 P18077,O43772,Q9Y375,Q96IX5,P60866,Q9H936,O14678,O75306,O43676,P03886,Q86Y39,P12235,P23786,P11310,P62857,Q8N183 16 |
| Abnormal metabolic brain imaging by mrs 0.6024327258788592 2.17852241089875 0.0293671656080161 1.0 0.1166034253170969 20 Q9Y6N5,P00403,P35610,O75306,Q9NZJ7,P03886,P03915,O43819,P53597 9 |
| Fluctuations in consciousness 0.7721194796092061 2.1601919612889464 0.0307578122123608 1.0 0.1213816509407146 9 P00403,O75306,P03886,P03915,O43819 5 |
| Polar cataract 0.7195132755073054 2.159872853072243 0.0307825138352488 1.0 0.1213816509407146 4 Q9Y287 1 |
| Heterophoria 0.5874804381846708 2.157958113909977 0.0309310885347646 1.0 0.1216113825812067 2 Q7Z392 1 |
| Coma 0.5067801720570017 2.1434951519289713 0.0320733599588416 1.0 0.1253523184799116 34 Q16134,O43772,Q13423,P23786,P11310 5 |
| Apneic episodes precipitated by illness fatigue stress 0.5846635367762202 2.1417372184105465 0.0322146339652105 1.0 0.1256053636421559 2 P53007 1 |
| Distal peripheral sensory neuropathy 0.8122733523819945 2.137308540882469 0.0325729046440304 1.0 0.1266969856357787 6 P03915,P03886 2 |
| Pericarditis 0.8118710423508035 2.13558347844684 0.0327133792646909 1.0 0.126901740093344 6 Q9NZ08,Q8NBM4 2 |
| Tiger tail banding 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Defective dna repair after ultraviolet radiation damage 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Numerous pigmented freckles 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Low set nipples 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Increased mean corpuscular hemoglobin concentration 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Abnormal mean corpuscular hemoglobin concentration 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Abnormality of dna repair 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Concave nail 0.711336206667772 2.120707100811486 0.0339464585963229 1.0 0.1298352865512118 4 P29084,P18074 2 |
| Hand oligodactyly 0.6447822585081087 2.1176627960470937 0.0342036358129873 1.0 0.1307015494720947 3 Q6KC79 1 |
| Exertional dyspnea 0.610537382324581 2.1156287244795497 0.0343763968536294 1.0 0.1311512492783765 18 Q96RR1,P51530,O75844,P12235,P11310,O95453 6 |
| Intestinal pseudo obstruction 0.7279897701089121 2.1083230697840056 0.0350030537592664 1.0 0.1326583890198172 11 P03915,P00403,Q96RR1,P03886 4 |
| Neuroinflammation 0.7561518899040887 2.10626875242206 0.0351810139916359 1.0 0.1332226496774182 5 Q9NZ08 1 |
| Upper airway obstruction 0.7557256424840626 2.1043327321341083 0.0353494327222869 1.0 0.1334463569276201 5 O75844,P16435 2 |
| Abnormal anterior chamber morphology 0.7534430780845696 2.09395859796212 0.036263668544439 1.0 0.1356571093561881 5 Q8NCH0 1 |
| Abnormality of the nasal bone 0.7057612198321631 2.0939100225945873 0.0362679962813903 1.0 0.1356571093561881 4 P10644,P35222 2 |
| Prominent antihelix 0.7053033204013931 2.0917056648837455 0.0364648534540874 1.0 0.1361711153436257 4 Q10469 1 |
| Mania 0.6364632377529701 2.0906399790358328 0.0365603491121211 1.0 0.1364165469313836 15 P00403,Q96RR1,Q9H269,P03886,P12235,P03915,P16615 7 |
| Abnormal urine ph 0.4535502423697353 2.087356822669451 0.036855891876264 1.0 0.1374074016086589 48 Q16134,O43772,Q9H9P8,Q96DA6,O75880,O14678,P03886,P48735,P23786,P12235,Q96HY7,P03915,P11310,P53597 14 |
| Gaze evoked nystagmus 0.7559650587077582 2.084931656490478 0.0370755046559125 1.0 0.1381137905149524 9 P41440,O15020 2 |
| Centrocecal scotoma 0.7507839266258316 2.081858678582495 0.0373553800891033 1.0 0.1390433400229662 5 P03915,P03886 2 |
| Positive romberg sign 0.7423268731410817 2.0814169854753657 0.0373957552980122 1.0 0.1390806418632239 10 Q96RR1,P41440,Q9H6K4,Q8IV08,P18887,P07196 6 |
| Color vision defect 0.6039381379391754 2.0743459572197276 0.0380471925260359 1.0 0.1412740973697704 18 Q9H061,Q8WWV3,Q13432 3 |
| Proximal tubulopathy 0.541110551162779 2.0728805086305 0.0381834014212576 1.0 0.1416650569329575 26 Q16134,O75306,Q86Y39,O43676,P03886,P03915,Q9Y375,Q8N183 8 |
| Hyperventilation 0.7482101781266465 2.0701328382524564 0.0384399064911238 1.0 0.1425013361992956 5 P03886 1 |
| Abnormality of the phalanges of the toes 0.6560169938009616 2.069794773774306 0.0384715670030857 1.0 0.1425034114859651 14 O75844,Q9H936,P49711 3 |
| Ectopia pupillae 0.7475782758655665 2.0672517501290693 0.0387104381689851 1.0 0.143272397165016 5 Q12948,P61586,O95202 3 |
| Repetitive compulsive behavior 0.6349405134627514 2.065873962374515 0.0388403820018323 1.0 0.1436029696931833 3 Q01082,Q96DA6 2 |
| Abnormality of the gingiva 0.4546238375635801 2.065640512276505 0.038862436145689 1.0 0.1436029696931833 46 Q14739,Q12756,Q15392,Q93008,Q9UBM7,Q5JRA6,Q9Y5U9,P49257,P10644,Q10469,O75845,O43709,O95453 13 |
| Abnormal endocrine physiology 0.7471109341740594 2.0651204055612777 0.0389116091350607 1.0 0.1436688098765901 5 Q13423 1 |
| Renal tubular dysfunction 0.4601394109071855 2.0634919520500232 0.0390659116541454 1.0 0.1441223890493512 41 Q16134,P00403,O75306,Q86Y39,O43676,P03886,P03915,Q9Y375,Q8N183,P40855 10 |
| Muscle fiber necrosis 0.6343173096871295 2.062584953124878 0.0391520785612438 1.0 0.1443240739884305 3 Q96RR1 1 |
| Ragged red muscle fibers 0.574014097614742 2.0539136347858644 0.0399840514249956 1.0 0.1469181424453327 21 P00403,Q9Y276,O75340,Q9H2D1,O95831,P03886,P12235,P03915,Q70HW3 9 |
| Decreased activity of mitochondrial complex i 0.4868754081944248 2.052935171726403 0.0400788653151966 1.0 0.1469208994140545 36 Q9UBX3,Q70HW3,O75306,O43676,P03886,Q9Y375,O95298,Q8N183 8 |
| Abnormal protein glycosylation 0.5738651836963854 2.0529132046534615 0.0400809961299799 1.0 0.1469208994140545 21 Q8N511,O75340,Q9H0U3,Q10469 4 |
| Hemoptysis 0.7439139618293373 2.0505278228817105 0.0403129515823335 1.0 0.1472997959730878 5 Q9NZ08 1 |
| Ventricular hypertrophy 0.4761187800291371 2.049071204349298 0.0404551527689673 1.0 0.1477016015835924 38 O43772,Q15233,O75880,O75844,P03886,P12235,P23786,P03915,Q86SX6 9 |
| Congenital nonbullous ichthyosiform erythroderma 0.6962985400971995 2.048252114984232 0.0405353023483838 1.0 0.1478763975798526 4 P18074,P04062 2 |
| Abnormality of hepatobiliary system physiology 0.375416466795074 2.046741972633663 0.040683425802539 1.0 0.1482986929413157 83 O43772,O96011,Q8N511,P22830,Q6NUQ1,O75306,P03886,O75845,Q8TCJ2,Q10713,O15460,P23786,P03915,P11310,P40855 15 |
| Adrenocortical carcinoma 0.6303632319012301 2.041690481064946 0.0411822435906175 1.0 0.1494038322503637 3 P10644 1 |
| Decreased ldl cholesterol concentration 0.6929962482600047 2.032267239153608 0.042126609135868 1.0 0.151987498472872 4 Q15800 1 |
| Neurofibrillary tangles 0.6922322142331754 2.028565155745953 0.0425026006169417 1.0 0.1532233800368428 4 Q9Y287,O96008 2 |
| Distal arthrogryposis 0.7387779074440058 2.027038571127535 0.0426584682271546 1.0 0.1535436774680462 5 P11310 1 |
| Abnormality of facial adipose tissue 0.6861633643697979 1.999109151500604 0.0455965451731885 1.0 0.1620817455264158 4 O14802,O75844 2 |
| Prominent ear helix 0.6856434978276817 1.996581815453254 0.0458706298880255 1.0 0.1628034284639297 4 O75844 1 |
| Impaired glucose tolerance 0.6214185617553424 1.9942565480731065 0.0461240252025387 1.0 0.1634898054063541 3 O00170 1 |
| Progressive proximal muscle weakness 0.6210623728004376 1.99236288349514 0.0463312566849505 1.0 0.1638038720142309 3 Q15149 1 |
| Shyness 0.6842693835356141 1.989898451350094 0.0466021230071105 1.0 0.1644962057460799 4 Q15233 1 |
| Moderately reduced visual acuity 0.6192332559472662 1.982632727042577 0.0474084689819442 1.0 0.1668399423005136 3 O60313 1 |
| Poikiloderma 0.682048486447477 1.9790870676786436 0.0478062042516094 1.0 0.1679816164730631 4 P18074,Q9H1A4 2 |
| Congenital hypothyroidism 0.6814400444337538 1.976123119918018 0.0481408344782126 1.0 0.1690278188346131 4 Q13423 1 |
| Broad chin 0.5558685446009468 1.9742774601294135 0.0483502023941886 1.0 0.1696329459189681 2 Q9H5V9 1 |
| Teratoma 0.6167814652473314 1.9695752036972116 0.0488870758109385 1.0 0.1711234387820629 3 Q96L73,P20585 2 |
| Eversion of lateral third of lower eyelids 0.5549295774647967 1.968767158813068 0.0489798351847525 1.0 0.1713172555851422 2 P61978 1 |
| Hydrocele testis 0.7726239197765682 1.96580744344004 0.0493208576710468 1.0 0.1723784667038419 6 Q9UBX3,O96011 2 |
| Abnormal muscle fiber morphology 0.3723845843177379 1.94727719067418 0.0515015117529888 1.0 0.1780980580016566 72 Q9H2D1,O43676,Q99720,P07196,Q9Y276,Q9H5K3,O95831,P03886,P12235,P03915,P50402,Q96RR1,Q8NI60,Q9Y223,Q70HW3,P53597,P00403,O96008,O75340,Q9BPX6,P13807,P23786 22 |
| Abnormal proximal phalanx morphology of the hand 0.6753887953550901 1.9465978343364332 0.0515829684578159 1.0 0.178245219814263 4 O75962 1 |
| Breathing dysregulation 0.6117720726361779 1.942843586712536 0.0520350597520218 1.0 0.1796719244790987 3 O15078,Q10713 2 |
| Diastasis recti 0.6745206292832521 1.9423548455297543 0.0520941576814366 1.0 0.1797405350123063 4 Q8NCH0 1 |
| Type ii lissencephaly 0.6104818317566743 1.9359470142822008 0.0528741907848608 1.0 0.1820206928446525 3 Q9H5K3 1 |
| Granulocytopenia 0.6694055800190206 1.91732056956008 0.0551972182942952 1.0 0.1891650368170986 4 P62857 1 |
| Abnormal basal ganglia mri signal intensity 0.4898774331931999 1.9131130298685488 0.0557335840347694 1.0 0.1908604499606231 32 O75489,Q7KZN9,O75340,Q96CU9,O75306,P03886,Q8NI60,Q9P0J0,Q9BPX6,Q9UI09,P03915,Q96DP5,Q8N183,P53597 14 |
| Vitiligo 0.729649308240786 1.907417027202178 0.0564666061777503 1.0 0.1929380980659598 8 P03915,P03886 2 |
| Abnormal circulating acetylcarnitine concentration 0.742955082090067 1.89884203209696 0.0575852489043131 1.0 0.1963211387496747 7 O43772 1 |
| Broad phalanx of the toes 0.7107443793115713 1.897855878007444 0.0577150699583874 1.0 0.1966174353526628 5 P49711 1 |
| Metaphyseal striations 0.7105053581332978 1.8967475062884291 0.0578612704956909 1.0 0.1967174367366934 5 Q9UG56,Q9H1A4,Q13126 3 |
| Abnormality of the intrahepatic bile duct 0.6641070014998787 1.8913246458930888 0.0585810206848851 1.0 0.1986811523154283 4 Q10713,P50542 2 |
| Somatic sensory dysfunction 0.3463565941502007 1.8907203574639428 0.058661683464624 1.0 0.1988075692565884 106 O14773,Q9H6K4,Q8NCH0,Q92734,Q06787,P07196,P04637,Q9BRK0,P41440,O95831,Q8N2K0,O15020,Q9NZ08,Q8WVX9,Q96RR1,P39210,Q9Y6B6,P30038,O43819,O15269,O75298,Q12756,Q96JM3,P60866,Q8TB36,Q9NZJ7,Q8IV08,Q8NBM4,P18887,O15460,Q96HY7 31 |
| Impaired vibratory sensation 0.503156628643534 1.8890640071149296 0.0588832525828497 1.0 0.1994109854653493 29 O75298,Q96RR1,Q9BRK0,O14773,Q8WVX9,Q9Y6B6,O15020,O43819,Q06787,P07196 10 |
| Abnormal cd4 cd8 ratio 0.7543414285963095 1.885742423805348 0.0593296730346994 1.0 0.2007744179061987 6 Q13432 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.704933746805702 1.870878918598804 0.0613618656632675 1.0 0.2062803143573674 5 Q8WXH0,Q9BTV4,P50402 3 |
| Aphthous ulcer 0.7216894968892643 1.8703922480698336 0.0614293676676129 1.0 0.2063558377221427 8 Q9NZ08,Q8NBM4 2 |
| Coronal craniosynostosis 0.7354561487200686 1.8649392249577657 0.0621899234904366 1.0 0.2086048531721673 7 P29084,Q9NX62 2 |
| Abnormal renal resorption 0.6586563075773086 1.8645160022002747 0.0622492764973174 1.0 0.2086511959844248 4 Q9Y276,P16930 2 |
| Acidemia 0.6195696006107436 1.8640491701761248 0.0623147996391648 1.0 0.2087181373879045 14 Q16134,Q9H9P8,Q96DA6,O14678,P48735,P53597 6 |
| Progressive peripheral neuropathy 0.5960874743540899 1.858693756061959 0.0630705590175786 1.0 0.2107872366291359 3 Q9NZJ7 1 |
| Vegetative state 0.5960874743540899 1.858693756061959 0.0630705590175786 1.0 0.2107872366291359 3 Q9NZJ7 1 |
| Abnormal corneal epithelium morphology 0.5677258767082302 1.8450988977186007 0.0650231535388026 1.0 0.2158957170397054 18 Q14739,P39210,O75844,P18074,Q8NBM4,P29084,Q9NZ08 7 |
| Mild short stature 0.65327199158777 1.8379687281514303 0.0660670134930154 1.0 0.2188857959689059 4 P10644 1 |
| Organic aciduria 0.4360171805647431 1.835913833775893 0.0663704013846169 1.0 0.2197320658557187 42 Q16134,O43772,Q9H9P8,Q96DA6,O75880,O14678,P48735,P23786,P12235,Q96HY7,P11310,P53597 12 |
| Hyperreflexia 0.3041866219124119 1.8345650611563369 0.0665701594975538 1.0 0.2201016573077553 246 Q15043,Q13409,P49902,O75306,Q9H6K4,Q99720,Q7RTS9,Q92734,Q99986,Q6DKK2,Q7KZN9,Q9BRK0,Q96IX5,Q9Y320,Q9H5K3,O95831,P03886,O15020,O14949,Q10713,Q2TAA5,P03915,Q9NZ08,Q8N183,P40855,Q86SX6,O96011,Q15233,O43681,Q9Y5U9,Q9H936,O43292,Q86XL3,P29084,O75298,Q12756,O75340,Q9NZJ7,Q15041,O43709,Q8NBM4,Q9UGM6,P13073,Q96DP5 44 |
| Increased endomysial connective tissue 0.5320813771518081 1.8337536116230144 0.0666905764919314 1.0 0.2201609521505836 2 O14908 1 |
| Blurred vision 0.7405600059916584 1.824997438478776 0.0680014158872668 1.0 0.2233556675660361 6 P03915,P03886 2 |
| Headache 0.3634518563672925 1.824676433178254 0.0680498716547766 1.0 0.2233556675660361 72 P10644,Q92621,Q12769,P04637,Q969G3,P03886,O43707,P12235,P03915,Q9NZ08,Q9Y6N5,O96011,Q96RR1,P00403,P60866,P35222,Q9ULM3,P21359,P04062,Q8NBM4,O15460,P23786 22 |
| Elevated creatine kinase after exercise 0.6944980350248349 1.8222624740877735 0.0684151692104324 1.0 0.2243939193430218 5 O43772 1 |
| Abnormal pyramidal sign 0.3205184246143384 1.8181004465518695 0.0690487817717164 1.0 0.2262244754538092 130 Q15043,P49902,O14773,O75306,Q9H6K4,P37198,Q99720,Q92734,P51572,Q6DKK2,P07196,Q9BRK0,Q93008,P41440,Q9H5K3,O95831,Q8N2K0,Q9NZ08,Q8WVX9,Q86SX6,O43681,Q15067,Q8NI60,Q9P0J0,P29084,P18074,O75298,Q9H9P8,Q12756,P60866,P51648,Q9NZJ7,P26358,Q8NBM4,Q96DP5 35 |
| Abnormal csf protein level 0.6514587918292724 1.81794833353134 0.0690720299345 1.0 0.2262244754538092 12 P03915,P03886,Q9NZJ7,O43681 4 |
| Focal segmental glomerulosclerosis 0.5207181822716571 1.8142337603688263 0.069641744616766 1.0 0.2279274813100158 24 P00403,Q92621,O95470,P03886,P03915,Q12769,P61619 7 |
| Difficulty standing 0.7241161206248443 1.8134768423182868 0.0697583071817025 1.0 0.2280181222931349 7 Q7RTS9,Q9UGM6,O43292,Q92734 4 |
| Abnormality of the achilles tendon 0.6687921100325851 1.8108290191550336 0.0701673227934822 1.0 0.2291565737988137 11 Q8N2K0,Q15149,Q08J23,Q9BTV4,Q8WXH0,Q92734,Q15041,P50402 8 |
| Disproportionate short limb short stature 0.5542914535020813 1.807939711548339 0.070615884258316 1.0 0.2304572519028518 19 Q14739,Q15392,Q03164,Q32P28,P42345,Q9UBM7,P10644,Q7RTS9,O00116 9 |
| Red green dyschromatopsia 0.5864037188778979 1.806406959991821 0.0708547952203069 1.0 0.2309080168559361 3 Q9H6K4 1 |
| Gait disturbance 0.2753262187276112 1.805849233980336 0.0709418926303748 1.0 0.231027542311569 324 O14773,P37198,Q99720,P07196,Q9BRK0,P41440,Q10469,P03886,O15020,O14949,P03915,Q8WVX9,Q15067,Q9Y223,P30038,P29084,P18074,P22570,O43819,P53597,O75298,O75340,Q96JM3,Q8IV08,P04062,P18887,Q96HY7,Q96DP5,O14653,P26640,O95319,Q96CU9,Q9BTV4,Q709C8,Q4J6C6,Q13363,P51530,O95831,Q9NZ08,Q86SX6,Q03164,O75844,Q96AY3,Q8ND04,O15269,Q12756,Q8TB36,Q9NZJ7,Q8NBM4,Q9UGM6,Q13409,P49902,Q9H6K4,Q7RTS9,Q92734,Q9H269,Q10713,P12235,P39210,O43681,O75962,O43292,P00403,P60866,Q96N67,O43709,Q9NVI7,Q15041,Q15043,P42345,Q06787,P27635,Q969G3,Q93008,P05023,Q8NI27,P50402,Q96RR1,Q9C0E8,Q5MNZ6,Q9BPX6,Q96GW9,P61981 83 |
| Microscopic hematuria 0.6460121867763629 1.8020739347851855 0.0715337739863966 1.0 0.232381786485037 4 O60488,Q03252 2 |
| Impaired distal vibration sensation 0.7215255133764465 1.8016883412920264 0.0715944534024752 1.0 0.232381786485037 7 Q9BRK0,Q06787 2 |
| Peripheral neuropathy 0.3234192020081161 1.8015811885650728 0.0716113231158603 1.0 0.232381786485037 176 Q9Y2R0,O14802,P36551,O75306,P10644,Q9UI09,Q92734,P16930,Q06787,P07196,Q7KZN9,P41440,O95831,P05023,Q8N2K0,P03886,Q10713,P12235,P03915,Q8N183,O95470,Q8IWS0,O96011,Q96RR1,P39210,O43681,Q15067,Q9P0J0,O60885,P30038,P29084,P18074,Q6KC79,O43819,O15269,P00403,Q12756,P21359,Q8TB36,Q9NZJ7,Q9BPX6,P26358,Q8IV08,Q9NVI7,P18887,O15460,Q15041,Q96DP5 48 |
| Insidious onset 0.6457378813068895 1.8007154535137468 0.0717477406104509 1.0 0.2326596938974426 4 P04062,Q9NR77 2 |
| Decreased number of peripheral myelinated nerve fibers 0.5606202596368305 1.7996073041515637 0.071922666943049 1.0 0.2328972861717673 18 Q12756,P39210,Q8TB36,P26358,Q9NR77,Q92734,O15269,P07196 8 |
| Scaphocephaly 0.6449911795567571 1.7970166450152076 0.0723329773273682 1.0 0.2337303964132589 4 P40855 1 |
| Calcinosis 0.688965075130881 1.7964013849313545 0.0724307037646752 1.0 0.2338812435868511 5 O75844,Q14739,Q9H1A4 3 |
| Abnormal circulating dicarboxylic acid concentration 0.4297361098904372 1.7909741415239235 0.073297444674552 1.0 0.2361806550624453 44 P36551,P00390,P48735,P28288,Q16134,Q96DA6,P41440,P40855,Q86SX6,Q14739,O75648,P22695,O14936,P53597,Q9H9P8,Q4G176,O14678,O75845,P23786 19 |
| Mitochondrial myopathy 0.4694478256492549 1.7904184027677357 0.0733866740607551 1.0 0.2363019961675194 33 P51530,O75306,Q86Y39,O43676,P03886,P12235,P03915,Q9Y375,Q8N183 9 |
| Muscle weakness 0.270263200135204 1.7855304540534542 0.0741753161283098 1.0 0.2385061743859057 300 Q15043,O75306,P10644,O43676,Q8NCH0,P37198,Q99720,Q86Y39,Q7RTS9,Q92734,Q99986,Q6DKK2,P00374,Q06787,P07196,P04637,Q16134,O43772,Q9Y276,Q13126,Q96DA6,Q93008,P51530,Q969G3,P41440,Q15165,Q9H5K3,O95831,P05023,P03886,Q10713,P12235,P03915,Q8N183,P50402,P40855,Q8WVX9,Q14739,O96011,Q15233,P39210,O43681,Q96RR1,Q15067,Q9H936,Q8NI60,Q9P0J0,Q9Y223,Q70HW3,O43819,O43505,O15269,O75298,P00403,Q12756,O75340,Q9Y375,P21359,Q8TB36,Q9NZJ7,Q9BPX6,Q5JTZ9,Q969X5,P61981,P18887,O15460,P23786,P11310,Q9UGM6,P13073 70 |
| Developmental cataract 0.4013616793106723 1.7779172487543928 0.0754174468593549 1.0 0.2414833972813167 58 Q16134,O96011,P48449,Q15800,P03886,P03915,P29084 7 |
| Mitral stenosis 0.6401389631465533 1.7729523015622843 0.0762366109984773 1.0 0.2435956426743536 4 O75844 1 |
| Increased csf lactate 0.4004301419390765 1.7671394546247434 0.0772048763580166 1.0 0.2465175912699876 58 Q7KZN9,P00403,P39210,O75306,Q86Y39,O43676,O95831,P03886,Q8NI60,Q9P0J0,Q9UI09,P30038,P03915,Q9Y375,O43819,Q8N183,P13073,Q96DP5 18 |
| Absence of subcutaneous fat 0.7135398714023343 1.7652768727427584 0.0775172444354295 1.0 0.24734262813589 7 O75844,P18074,P29084 3 |
| Diffuse white matter abnormalities 0.6882679270928089 1.7635292427546716 0.0778112697000366 1.0 0.2474193183661122 9 Q9H936,Q9H5K3,O43819,O75306 4 |
| Bird like facies 0.7130129970181214 1.7628707085220825 0.0779222983320322 1.0 0.2476005346445018 7 O75844,Q92878,P29084,P18074 4 |
| Ventricular arrhythmia 0.4281122648747036 1.7513722758995074 0.0798818053304002 1.0 0.2522525375767704 41 O43772,P00403,O75306,P03886,P12235,P23786,P03915,P50402,Q96DP5 9 |
| Hypoplasia of the frontal lobes 0.6957425252100062 1.7488744668729324 0.080312721045054 1.0 0.2534386279810176 8 Q00534,Q86XL3,Q9UBM7 3 |
| Abnormality of neutrophil morphology 0.6779875622628284 1.7449238537141252 0.0809981245474067 1.0 0.2551151592717892 5 P41440,Q14739 2 |
| Diffuse cerebellar atrophy 0.707678614879842 1.738483203754571 0.082125707127576 1.0 0.2573165097276532 7 P29084,Q12756,Q06787 3 |
| Stroke like episode 0.6830313212174859 1.738292252594236 0.0821593308013 1.0 0.2573165097276532 9 P03915,P03886 2 |
| Abnormal nephron morphology 0.3681450044081922 1.7327764890795765 0.0831354032239231 1.0 0.2600180324723656 68 O75306,Q92621,Q12769,P61619,P16930,Q9Y276,P03886,O43707,Q9NQH7,P03915,Q9NZ08,O95470,P00813,P23458,O43819,P00403,P21359,O43709,Q8NBM4,P23786 20 |
| Renal dysplasia 0.615741125068838 1.72901771866565 0.0838059239379158 1.0 0.2609678356609231 13 Q93008,Q9H936,O75306,O43505,O43819 5 |
| Lipid accumulation in hepatocytes 0.3563395335009287 1.728991643375917 0.0838105907125019 1.0 0.2609678356609231 73 Q16134,Q7KZN9,O43772,O75880,Q8N511,Q6NUQ1,Q9Y6B6,P23786,P11310 9 |
| Overgrowth 0.63116552842003 1.7283203851130489 0.0839308003060721 1.0 0.2609678356609231 4 P21359 1 |
| Spastic gait 0.5208287105318711 1.72823530668813 0.0839460461962295 1.0 0.2609678356609231 22 O75298,Q12756,Q9BRK0,P49902,Q9NVI7,Q15041 6 |
| Hyperammonemia 0.4504569247569436 1.7282038806157085 0.0839516782549543 1.0 0.2609678356609231 36 Q86VD7,O43772,P11310,P23786 4 |
| Thoracolumbar scoliosis 0.7185887551276989 1.7274941175514678 0.0840789607274161 1.0 0.2611624307010535 6 P27635,Q10469,Q93008 3 |
| Impaired smooth pursuit 0.5751129177337736 1.7272193711042505 0.0841282731808719 1.0 0.2611624307010535 15 P41440,Q9UGM6,O15020,P46977 4 |
| Localized hirsutism 0.5716074387160825 1.7260493303968905 0.0843385383595192 1.0 0.261521707412493 3 P27635 1 |
| Bilateral sensorineural hearing impairment 0.4826609739684434 1.725940271121117 0.0843581587856099 1.0 0.261521707412493 29 P00403,Q96RR1,Q96DA6,O43681,Q15067,Q9NZJ7,P03886,Q96GW9,P03915,P29084 10 |
| Absent brainstem auditory responses 0.5702884404115119 1.7188596493554804 0.0856399310065905 1.0 0.2649575718245764 3 P07196 1 |
| Emg impaired neuromuscular transmission 0.6715461686604817 1.7146167922742737 0.0864155079610089 1.0 0.2660993665842359 5 O75340,Q9H3H5,O60313 3 |
| Upper limb spasticity 0.7021727471699546 1.7132627521459682 0.0866642116326121 1.0 0.266592384697872 7 Q99720 1 |
| Abnormal peripheral myelination 0.4526290698948268 1.710482083247388 0.0871767637871654 1.0 0.2679033746967083 35 Q12756,P39210,Q8TB36,Q9NZJ7,P03886,Q92734,P03915,O15269 8 |
| Congenital contracture 0.4225532139515459 1.7100112803659395 0.0872637871224637 1.0 0.2679910674230086 43 P11310,Q12756,Q15392,O75844,Q96AY3,Q8NCH0,Q969X5,P04062,Q9NXE4,Q99986,P18074 11 |
| Aplasia hypoplasia of the cerebral white matter 0.6770148161932279 1.7092366068846347 0.0874071305449895 1.0 0.268251488383886 9 P03915,Q9UGM6,Q9Y320,P03886 4 |
| Lower limb spasticity 0.3506149865338338 1.7043774823654816 0.0883105879335841 1.0 0.2697353668056636 85 O75298,Q7KZN9,Q12756,Q9BRK0,P49902,O95831,O75306,Q9NZJ7,Q9H6K4,Q99720,Q6DKK2,Q8N183,Q96DP5 13 |
| Pollakisuria 0.62630322090183 1.704068627230876 0.0883682669183452 1.0 0.2697353668056636 4 Q06787 1 |
| Decreased proportion of cd4 positive helper t cells 0.7133270148759707 1.7040295621248571 0.0883755645263821 1.0 0.2697353668056636 6 Q13432 1 |
| Split nail 0.6692414773528098 1.703755518208347 0.0884267713159434 1.0 0.2697353668056636 5 P29084,P18074 2 |
| Decreased activity of mitochondrial complex iv 0.5702628373997547 1.6980391102235728 0.0895003804784038 1.0 0.2726667176542861 15 Q9Y2R0,Q70HW3 2 |
| Cerebellar atrophy 0.3162474147223182 1.6965393733034249 0.0897837802223231 1.0 0.2733483594542755 139 O14802,P49914,P26640,Q15043,Q96CU9,O14773,Q9H6K4,Q92643,P51572,Q6DKK2,Q06787,Q9Y276,Q9Y320,P41440,Q8N2K0,O15020,Q10713,P12235,Q8WVX9,Q96RR1,Q9H936,O43292,Q8NI60,P29084,P18074,P22570,Q14671,Q9C0E8,Q9H9P8,Q12756,P46977,O75845,P26358,Q8IV08,Q5JTZ9,Q8TCJ2,Q9NVI7,P18887,Q96GW9,Q9UGM6,P13073 41 |
| Holoprosencephaly 0.5899894074232889 1.6944555430301027 0.0901787527167194 1.0 0.2743685557423697 14 Q92917,Q9UBM7 2 |
| Cytochrome c oxidase negative muscle fibers 0.6833636180188913 1.6904805582972156 0.0909360546355237 1.0 0.2759397366489867 8 Q9Y2R0,P12235 2 |
| Progressive hearing impairment 0.5559699530584672 1.6846543705565495 0.0920552748100531 1.0 0.278230388640939 16 P03915,P00403,O96011,P03886 4 |
| Macrocytic anemia 0.4494896219580548 1.68261648422153 0.0924493584922314 1.0 0.2792372845164169 35 P18077,P60866,P62857,P41440,Q6P4A7,P00374,Q7Z2Z2 7 |
| Megaloblastic anemia 0.6809682054840784 1.6791516020566937 0.0931225015544936 1.0 0.2797935310327168 8 P00374 1 |
| Adipose tissue loss 0.6707845505691175 1.6790831023209258 0.0931358489462854 1.0 0.2797935310327168 9 O14802,O75844,P19447,P29084,P18074 5 |
| Abnormal csf metabolite level 0.3799433047632499 1.679069688131994 0.0931384629235017 1.0 0.2797935310327168 63 Q7KZN9,P00403,P39210,O75306,Q86Y39,O43676,O95831,P03886,Q8NI60,Q9P0J0,Q9UI09,P30038,P03915,Q9Y375,O43819,Q8N183,P13073,Q96DP5 18 |
| Narrow internal auditory canal 0.5626174076393247 1.6769642444944288 0.0935494739288786 1.0 0.2797935310327168 3 O15160,Q13428 2 |
| Short face 0.5626174076393247 1.6769642444944288 0.0935494739288786 1.0 0.2797935310327168 3 O15160,Q13428 2 |
| Abnormality of the internal auditory canal 0.5626174076393247 1.6769642444944288 0.0935494739288786 1.0 0.2797935310327168 3 O15160,Q13428 2 |
| Pericardial effusion 0.6206334360704121 1.6757313715548106 0.0937908220128633 1.0 0.2803323851682583 4 P04062,P49748 2 |
| Neoplasm of the ear 0.6197608605386873 1.6713648643141394 0.0946496315202591 1.0 0.2823467523605648 4 Q15046,P10644 2 |
| Dyschromatopsia 0.6792167682959966 1.670862468054222 0.0947488463398578 1.0 0.2824588249376893 8 Q9H061 1 |
| Abnormal mitochondria in muscle tissue 0.5010251811058556 1.670503392027877 0.0948198088753911 1.0 0.2824865827484018 24 O75306,Q86Y39,O43676,P03886,P03915,Q9Y375,Q8N183 7 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.6189517205310007 1.667314525098299 0.0954518799110215 1.0 0.2841848692347633 4 P12235 1 |
| Sagittal craniosynostosis 0.5607042247183219 1.6664941634059152 0.0956150297411868 1.0 0.2844857573208559 3 P21281 1 |
| Calvarial hyperostosis 0.6603276242322136 1.661662826906 0.0965803985034445 1.0 0.2862632852840999 5 Q15043,P10644 2 |
| Diminished ability to concentrate 0.6603203437560579 1.6616283935712384 0.096587306645399 1.0 0.2862632852840999 5 Q7RTS9,Q96RR1 2 |
| Desquamation of skin soon after birth 0.6173899498933568 1.6594932766762216 0.0970164343324837 1.0 0.2870035963768295 4 P04062,Q6P1M0 2 |
| Endocarditis 0.703356135314426 1.6594507127718587 0.0970250045368199 1.0 0.2870035963768295 6 Q9NZ08,Q8NBM4,P10644 3 |
| Dysdiadochokinesis 0.5515834079945581 1.657394811498587 0.097439679724389 1.0 0.2878585509330436 16 P41440,O15020,P18887 3 |
| Decreased number of large peripheral myelinated nerve fibers 0.701974413784525 1.6532617515487391 0.0982776036752968 1.0 0.28977347492935 6 O15269,Q8TB36 2 |
| Mitochondrial inheritance 0.7017441677278573 1.652230177213058 0.0984876368532039 1.0 0.2899842380433285 6 P03915,P00403,P03886 3 |
| Autoamputation 0.7016658297081333 1.6518791812643905 0.0985591828822729 1.0 0.2899842380433285 6 Q12756,O15269 2 |
| Abnormal renal cortex morphology 0.3879196478227045 1.6487414024847806 0.0992006242352827 1.0 0.2913700386192728 59 Q16134,P00403,Q9NZ08,P21359,P23458,Q92621,O95470,P03886,O43707,Q9NQH7,Q8NBM4,Q6KC79,P03915,Q12769,P61619,P16930 16 |
| Reduced forced vital capacity 0.614092749869408 1.6429664091910967 0.1003898834176195 1.0 0.2942971502364254 4 O95453 1 |
| Postural tremor 0.5212139306943872 1.6393895067016315 0.1011321656097923 1.0 0.2962836207315015 20 O14802,Q9BRK0,O75306,O14773,Q9H6K4,P03886,Q9NR77,P03915,O75569,Q06787 10 |
| Hypoglycemic coma 0.6605566380139068 1.629443674452198 0.1032191295175914 1.0 0.3018187947987263 9 Q16134 1 |
| Hypothermia 0.6151157087890524 1.6247021396393757 0.1042260412456697 1.0 0.3039870916535064 12 O43772,P03886 2 |
| Optic disc pallor 0.3921470290089174 1.6225987906717685 0.1046751992068037 1.0 0.3049089400925461 56 O75306,Q86Y39,O43676,Q9H6K4,O95831,P03886,Q9Y287,Q96S66,Q10713,Q8WWV3,Q9H061,Q8ND04,Q9Y375,O95298,Q8N183 15 |
| Microcytic anemia 0.6590117272841595 1.6219314314903492 0.1048180306242982 1.0 0.3051310141807717 9 Q96DA6,P22830,Q9BQT8,Q9UBX3,O75027 5 |
| Muscle stiffness 0.5185875842695299 1.6215995034066653 0.1048891290624167 1.0 0.305144120231107 20 Q12756,Q9BRK0,Q15392,P23786 4 |
| Capillary hemangioma 0.6815634179616199 1.6184412309507932 0.1055675424330653 1.0 0.3069228930382648 7 Q10469,Q9UBM7 2 |
| Kinetic tremor 0.4422135672966153 1.617894036457797 0.1056854357031609 1.0 0.3070708093797611 35 Q9BUB7,Q15233,O43681,P41440,Q9NZJ7,Q8N2K0,Q9NQH7,Q9Y287,O15020,P29084,P18074,Q06787 12 |
| Type i diabetes mellitus 0.6135977371409198 1.6165749455233132 0.1059700637295937 1.0 0.3075538136607051 12 P03915,Q5JRA6,P03886 3 |
| Quadriceps muscle weakness 0.6506371464290861 1.615756731687788 0.1061469198279811 1.0 0.3075538136607051 5 Q96RR1,P12235 2 |
| Focal white matter lesions 0.6935975135732169 1.6156831392193658 0.1061628382313117 1.0 0.3075538136607051 6 P42345,P12235 2 |
| Neuronal loss in basal ganglia 0.6935723569875984 1.615570142964693 0.1061872835467558 1.0 0.3075538136607051 6 O75306,Q99986 2 |
| Toe walking 0.517069009521217 1.6113051535204423 0.1071132280720936 1.0 0.3090634830140637 20 O43681,O95831,Q9NZJ7,Q99720,Q8ND04 5 |
| Dysmetria 0.3842642622267765 1.605788731373902 0.108320337398982 1.0 0.3121119557868651 59 Q9C0E8,Q12756,P41440,O43292,O14773,P21359,O43709,Q8IV08,O15020,Q10713,Q96GW9,P18887,Q6P4A7,Q6DKK2,Q9UGM6,Q8N183,Q14671,Q06787 18 |
| Basal ganglia calcification 0.6553695582820726 1.6042068714720352 0.1086684605944827 1.0 0.3125667837061645 9 P03915,P03886 2 |
| Abnormal blood glucose concentration 0.3331310011815781 1.603062766865117 0.1089207972230719 1.0 0.3130960432096082 101 Q16134,O43772,Q9Y375,O75880,O75844,O75306,O43676,P03886,Q13423,P23786,P11310,Q9UGM6,Q8N183,O95470 14 |
| T lymphocytopenia 0.6529952486320046 1.5926417921594205 0.1112405724480445 1.0 0.3182338609221445 9 Q13432 1 |
| Central hypoventilation 0.6612829226389694 1.5857168844674474 0.1128035472552335 1.0 0.3220347997031029 8 Q8N183,O75306 2 |
| Amyotrophic lateral sclerosis 0.5338411961408381 1.584701012509708 0.1130342817327858 1.0 0.3224391728947673 17 Q99720 1 |
| Craniofacial dysostosis 0.6024102194532186 1.5842547971401728 0.1131357478854164 1.0 0.3224391728947673 4 Q6NUK1,P10644 2 |
| Limited wrist movement 0.686570581125437 1.5840878267339302 0.1131737341966796 1.0 0.3224391728947673 6 O75844,Q9H6K4 2 |
| Abnormal pericardium morphology 0.6408689499263747 1.5838551927175335 0.1132266759466784 1.0 0.3224391728947673 10 Q9NZ08,Q8NBM4 2 |
| Venous thrombosis 0.5888447112572655 1.5796817869203308 0.1141797586472392 1.0 0.3245481725320411 13 P35222,P10644,P48735,Q8NBM4,Q9NZ08 5 |
| Rhizomelia 0.606604386714361 1.5790817475462853 0.1143173076947834 1.0 0.3245758375065152 12 Q14739,Q9UBM7,Q15392,Q03164,P42345,Q7RTS9,O00116 7 |
| Ridged nail 0.6851591548253124 1.5777339587363797 0.1146267413459227 1.0 0.3252134543944384 6 P29084,P16615 2 |
| Hip pain 0.642091907395275 1.5751575302173075 0.1152200874567284 1.0 0.3263642390012893 5 O75844 1 |
| Synostosis of metacarpals metatarsals 0.5440462309046508 1.5749958520524443 0.1152574019973653 1.0 0.3263642390012893 3 Q15233 1 |
| Posterior pharyngeal cleft 0.5439991731177702 1.574736565838751 0.1153172638461561 1.0 0.3263642390012893 3 P29372 1 |
| Elevated circulating follicle stimulating hormone level 0.5999551026968069 1.57188723599958 0.1159767052237872 1.0 0.3276100946991499 4 Q14781,P16435 2 |
| Breast hypoplasia 0.5434409531472052 1.5716604708319544 0.1160293142184083 1.0 0.3276100946991499 3 Q93008 1 |
| Short upper lip 0.5997759665997708 1.5709844650115916 0.1161862573016097 1.0 0.3278112259581131 4 O95202 1 |
| Horizontal nystagmus 0.4919325193406423 1.5617566311090256 0.1183453321054899 1.0 0.3334921966219894 23 O95831,O14773,Q9NZJ7,P37198,Q96GW9,O15020,Q9H061,P04062,Q8WVX9 9 |
| Wormian bones 0.529773153709427 1.5587693906532727 0.1190509713804006 1.0 0.3350685201873439 17 O75844,Q96AY3,Q12756,O95831 4 |
| Left ventricular systolic dysfunction 0.6680887121636638 1.556119021647563 0.1196797926043875 1.0 0.3362187674514431 7 O75844,P12235 2 |
| Monocytosis 0.4854460093896809 1.553140068696688 0.1203896753567521 1.0 0.3377988318950633 2 Q9UJV9 1 |
| Abnormal monocyte morphology 0.4854460093896809 1.553140068696688 0.1203896753567521 1.0 0.3377988318950633 2 Q9UJV9 1 |
| Adenoma sebaceum 0.5397620538509772 1.5513727946011833 0.1208123709978212 1.0 0.3383632542249493 3 P21912,P43246 2 |
| Angiofibromas 0.5397620538509772 1.5513727946011833 0.1208123709978212 1.0 0.3383632542249493 3 P21912,P43246 2 |
| Focal t2 hyperintense basal ganglia lesion 0.4844611142676472 1.5486803763148358 0.1214585734984579 1.0 0.3397577434492882 24 O75489,Q7KZN9,Q96CU9,O75306,P03886,Q9P0J0,Q9UI09,P03915,Q96DP5,Q8N183,P53597 11 |
| Achilles tendon contracture 0.6438424152838098 1.5479848429869432 0.1216259457980513 1.0 0.3400183548789939 9 Q8N2K0,Q15149,Q08J23,Q9BTV4,Q8WXH0,P50402 6 |
| Entropion 0.6434782418033267 1.5462056899722336 0.1220548997799926 1.0 0.3410094821901989 9 O14802,O75844,P19447,P01889,P36543,P18074 6 |
| Early onset of sexual maturation 0.4122998965006203 1.5448649779303412 0.1223789262284422 1.0 0.3417064228998918 40 P48735,Q13363,O00571,Q5JRA6,O00170,Q96PZ0,Q9BPU6,Q15056,O75648,Q12830,Q9H936,Q13423,Q9UIG0,O95202,Q9Y296,O14936,Q9UBM7,P21359,O43709 19 |
| Disproportionate short stature 0.4890879890081327 1.5411953342527922 0.1232692527170951 1.0 0.343249139542659 23 Q14739,Q15392,Q03164,Q32P28,P42345,Q9UBM7,P10644,Q7RTS9,O00116 9 |
| Arterial thrombosis 0.6647835373522197 1.5407966241519262 0.1233662913271462 1.0 0.343249139542659 7 Q9NZ08,Q8NBM4,O15460 3 |
| Encephalopathy 0.3216257908743885 1.540344222338586 0.1234764697190846 1.0 0.343249139542659 109 O95319,O75306,Q86Y39,O43676,Q00839,O43772,Q7KZN9,Q9BUB7,Q9Y276,Q6NUQ1,P03886,P03915,Q8N183,Q9Y6N5,Q96RR1,Q15067,Q9H936,P30038,P53597,P00403,Q96N67,Q9NZJ7,Q9NVI7,P04062,P61981,P23786,Q9Y375 27 |
| Abnormal dura mater morphology 0.4832550860719971 1.5398142055533288 0.1236056482421181 1.0 0.343249139542659 2 Q8N3U4 1 |
| Cyclopia 0.4832550860719971 1.5398142055533288 0.1236056482421181 1.0 0.343249139542659 2 Q8N3U4 1 |
| Panhypopituitarism 0.4832550860719971 1.5398142055533288 0.1236056482421181 1.0 0.343249139542659 2 Q8N3U4 1 |
| Hand apraxia 0.4832550860719968 1.539814205553327 0.1236056482421186 1.0 0.343249139542659 2 P51608 1 |
| Infection related seizure 0.520398655741787 1.5394397934676636 0.1236969655216499 1.0 0.3432946674864932 18 P27635,Q9H936,Q8WVX9,P30038,P11310,O14936,Q5UCC4 7 |
| Photophobia 0.4053427230337726 1.5373224433619292 0.1242143681271998 1.0 0.3441053414503203 43 P48449,Q13432,Q9NZJ7,Q96S66,Q8NBM4,Q8WWV3,P29084,Q9NZ08 8 |
| Dysesthesia 0.675679940981336 1.534998168274312 0.1247842779769472 1.0 0.3447034218302887 6 Q06787,P30038,Q8NCH0 3 |
| Abnormal circulating cholesterol concentration 0.43980667039998 1.5348437541093358 0.1248222122818636 1.0 0.3447034218302887 33 Q15392,Q15800,Q8NFG4,Q8N511,Q9UBM7,P34913,Q9Y6B6,O75845 8 |
| Involuntary movements 0.2679557804331355 1.5343838425722105 0.1249352501710066 1.0 0.3447034218302887 336 O14773,P37198,Q99720,P00374,P07196,Q9BRK0,Q9BUB7,Q96DA6,P41440,Q10469,P03886,Q8N2K0,O15020,O14949,Q6P4A7,P03915,Q8WVX9,Q14139,Q9P0J0,P29084,P18074,Q9UBX3,O43819,P53597,O75298,Q96JM3,O75845,P26358,P04062,Q96DP5,O14802,O14653,O95319,Q96CU9,Q86VD7,Q709C8,Q6DKK2,Q9H5K3,O95831,Q86SX6,Q03164,Q9H936,Q14671,P27544,Q12756,Q8NFG4,Q9NZJ7,Q9UGM6,O75306,Q9H6K4,Q92734,Q96IX5,Q9NQH7,Q10713,P12235,Q15233,O43681,O75962,O43292,Q9Y287,P00403,Q9ULM3,Q96N67,O43709,Q5JTZ9,P13073,O14646,Q15043,Q99986,Q06787,P27635,Q969G3,Q8NI27,Q96RR1,Q8NI60,O95202,Q9C0E8,O96008,P21359,Q9BPX6,Q969X5,P61981 82 |
| Parathyroid adenoma 0.6754566124830372 1.5339900482449804 0.1250321010654604 1.0 0.3447034218302887 6 P48735,P21359,Q8NFG4 3 |
| Neoplasm of the parathyroid gland 0.6754566124830372 1.5339900482449804 0.1250321010654604 1.0 0.3447034218302887 6 P48735,P21359,Q8NFG4 3 |
| Occipital encephalocele 0.6332158193401113 1.5328776983351666 0.1253059917561121 1.0 0.3452507842612782 5 Q9H5K3,Q10713 2 |
| Overweight 0.6331453634085281 1.5325416744281843 0.1253888218519376 1.0 0.3452713832485447 5 Q01082,Q8NI27,Q9HCK8,P49748 4 |
| Increased megakaryocyte count 0.5359719522508808 1.530445556921113 0.125906479779517 1.0 0.3464885827926409 3 P04637 1 |
| Abnormal speech prosody 0.6397057845612106 1.5277655035555675 0.1265707700261291 1.0 0.3481076039974332 9 P03886 1 |
| Urinary bladder sphincter dysfunction 0.6290163768913 1.5245277441172227 0.1273769316976287 1.0 0.349627326461734 10 O75298,Q12756,Q9BRK0 3 |
| Heterochromia iridis 0.4804381846635462 1.522665181035385 0.127842493366671 1.0 0.3505531445877241 2 O95163 1 |
| Retinal telangiectasia 0.6712137747239607 1.514826996997235 0.1298162217419083 1.0 0.3553273166197275 6 P03915,O75306,P03886 3 |
| Cerebellar dysplasia 0.588415415179345 1.5136316133921548 0.1301192984547821 1.0 0.3557318768017969 4 Q8NI27 1 |
| Renal agenesis 0.3925004250804627 1.513081772195786 0.1302588890650613 1.0 0.3557646234328129 51 P18077,Q15427,Q15392,Q07020,P60866,Q9UBM7,O75306,P10644,P16435,Q86XL3,Q00534,P62857 12 |
| Hemiparesis 0.528458217148215 1.5129728145714 0.1302865644086119 1.0 0.3557646234328129 16 P00403,P42345,P03886,Q8NBM4,P03915,Q9NZ08 6 |
| Anemia of inadequate production 0.3664370992055902 1.512627906124403 0.1303742015765423 1.0 0.3557918949515884 63 Q9UBX3,P62857,P41440,Q6P4A7,P00374 5 |
| Hyperhomocystinemia 0.5881216802140881 1.5121462084593231 0.1304966718115148 1.0 0.3559141370478338 4 P41440 1 |
| Prominent crus of helix 0.4785602503912453 1.5112229519884914 0.1307316565619842 1.0 0.3563429210987578 2 Q9H5V9 1 |
| Infantile spasms 0.4417254676640801 1.506868573935181 0.1318443480975499 1.0 0.3586008802447301 32 O75340,Q9H936,Q10469,P03886,P03915,Q9UBX3 6 |
| Hypoplastic nipples 0.6097141559393308 1.5067564870593158 0.1318730866897359 1.0 0.3586008802447301 11 Q93008,Q9UQE7,Q96A33,Q10469,Q9Y223,O60885,Q6KC79 7 |
| Meningitis 0.6440212644646732 1.5033451092451884 0.1327500734082742 1.0 0.3603440973677208 8 Q9NZ08,Q8NBM4 2 |
| Recurrent lower respiratory tract infections 0.4659731855787827 1.5026319489207418 0.1329339799436917 1.0 0.3606296602143253 26 Q10469,O95298,Q13432 3 |
| Enamel hypoplasia 0.5566495490027148 1.50099303337862 0.1333573634725513 1.0 0.3615641653439232 14 P61586,P21359,P19447,P51648,Q15149,P29084,P18074 7 |
| Albuminuria 0.6260735543769431 1.4987827072594824 0.1339300121720525 1.0 0.3628212470950361 5 Q9Y5U9 1 |
| Abnormal cardiac ventricular function 0.4883322334891923 1.4985924724296151 0.1339793867491927 1.0 0.3628212470950361 22 P00403,Q15233,O75844,P03886,P12235,P03915 6 |
| Cognitive impairment 0.308209936205933 1.4957430159951424 0.1347206360229369 1.0 0.364397847849526 174 Q9Y2R0,O95319,P42345,O75306,P10644,Q9H6K4,P36543,Q99720,Q709C8,Q6DKK2,P61619,Q06787,P07196,P04637,Q9BRK0,Q969G3,Q9H5K3,O95831,P03886,O15020,Q10713,P12235,P03915,Q9NZ08,O95470,P40855,Q8WVX9,O96011,Q96RR1,Q03164,O43681,Q9Y287,Q9Y223,P21964,P18074,O43819,P27544,P00403,O96008,P60866,P21359,Q9NZJ7,P26358,Q5JTZ9,Q96GW9,P04062,Q8NBM4,P61981,Q96DP5 49 |
| Self mutilation 0.590954474258167 1.4949019055024757 0.1349400449173656 1.0 0.3647759798297165 12 Q9UBM7,O75962,Q10469,Q10713,Q8ND04 5 |
| Axonal degeneration regeneration 0.6240762348507792 1.4892371388480945 0.1364249342712837 1.0 0.3669181821389256 5 O95140,Q8TB36 2 |
| Chilblains 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Neonatal alloimmune thrombocytopenia 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Csf pleocytosis 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Moyamoya phenomenon 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Csf lymphocytic pleiocytosis 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Chronic lymphatic leukemia 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Chronic leukemia 0.5283555681637369 1.4883154899357458 0.1366677118220394 1.0 0.3669181821389256 3 P55265 1 |
| Gait ataxia 0.338697213376141 1.4882178971874178 0.1366934388719218 1.0 0.3669181821389256 75 O14773,P37198,Q06787,P07196,P27635,P41440,P03886,O15020,Q10713,P12235,P03915,Q96RR1,O43681,O75962,O43292,P29084,P18074,P22570,Q9NZJ7,Q8IV08,Q9NVI7,Q96GW9 22 |
| Female hypogonadism 0.6230796134077968 1.4844723824052923 0.1376836446338925 1.0 0.3693597539300324 5 O75844,O00170 2 |
| Segmental peripheral demyelination remyelination 0.6525165994522173 1.483818086626319 0.1378571875008871 1.0 0.3693927679117338 7 P03886 1 |
| Suicidal ideation 0.5273740642920494 1.4828793514088074 0.1381064684166446 1.0 0.3698444408445738 3 P42858 1 |
| Abnormality of ocular smooth pursuit 0.4979403950327354 1.481185125090431 0.1385572488960524 1.0 0.3704526011311775 20 P41440,P46977,O15020,Q10713,Q9UGM6,Q06787 6 |
| Bulbous nose 0.3997389735621917 1.4809079646111565 0.1386311003652525 1.0 0.3704526011311775 43 Q93008,Q13409,Q9Y4A5,P16435,Q96N67,O75845,P21964,P23786,Q8ND04,O75147,Q06787 11 |
| Phthisis bulbi 0.6222851071803344 1.4806731178492534 0.1386937007585653 1.0 0.3704526011311775 5 O60885,Q6KC79 2 |
| Short chin 0.6300539105690466 1.4805076752527837 0.1387378139548452 1.0 0.3704526011311775 9 O75844,O75962,P78527 3 |
| Abnormality of pulmonary circulation 0.4477200928316242 1.478678387558734 0.139226291242188 1.0 0.3714406681763154 30 O75844,O14678,P03886,Q8NBM4,P03915,Q9NZ08,P49711 7 |
| Left ventricular hypertrophy 0.4558134897504711 1.4782119757411512 0.1393510494533143 1.0 0.3714406681763154 28 P00403,Q15233,O75880,P03886,P12235,P03915,Q86SX6 7 |
| Abnormally low pitched voice 0.6512362810281138 1.4778618095644689 0.1394447702353241 1.0 0.3714743821036366 7 Q96L73,O60885,Q6KC79,Q15022 4 |
| Bilateral cryptorchidism 0.6286858973308227 1.473801063937204 0.140535161784006 1.0 0.3735105053911344 9 P27635,P48449,Q15233,P36543 4 |
| Psychotic mentation 0.6620426375244416 1.4733398366120949 0.1406594240967091 1.0 0.3736240470789109 6 P03915,P00403,P30038,P03886 4 |
| Impaired visuospatial constructive cognition 0.6275588998339253 1.4682745341216823 0.1420296654030006 1.0 0.375588166399235 9 P03915,P00403,Q10713,P03886 4 |
| Abnormal renal tubule morphology 0.4614669939461976 1.4678576737050304 0.1421428874656496 1.0 0.375588166399235 26 O75306,P03886,Q9NQH7,O43709,P23786,P03915 6 |
| Absence of pubertal development 0.6195480042671431 1.4675791835929968 0.1422185658451926 1.0 0.375588166399235 5 O75844,Q8IY37 2 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6489588706627587 1.4672628313935496 0.1423045706009038 1.0 0.3755988148003119 7 P03886 1 |
| Inability to walk 0.331906791950858 1.4668371226791173 0.1424203684721501 1.0 0.3756880416461668 90 P26640,Q15043,Q13409,Q96CU9,P37198,Q99720,Q7RTS9,Q92734,P07196,P27635,Q9H269,O14949,P12235,Q86SX6,Q8WVX9,Q96RR1,O43292,O15269,Q9C0E8,Q12756,Q5MNZ6,Q96N67,Q8TB36,Q9NVI7,Q15041 25 |
| Abnormal brainstem mri signal intensity 0.4774559823306591 1.4569382786073857 0.1451334184501385 1.0 0.3810895835750914 23 O95831,O75306,O43676,P03886,Q9Y375,Q8N183 6 |
| Diplopia 0.4943274495637556 1.4565287408951748 0.1452465104209142 1.0 0.3811681046670268 20 P19447,O14773,O00170,O15020,P53007,Q709C8,P04062,O15460,Q96QK1,P18074,Q14671 11 |
| Increased circulating cortisol level 0.5759936544879314 1.4507160013189786 0.1468589579077832 1.0 0.3847385621117569 4 P10644 1 |
| Episodic vomiting 0.5987619294490194 1.4497961757493751 0.1471153662803661 1.0 0.3849657241281539 11 P00403,P22695,P03886,Q2TAA5,P03915 5 |
| Goiter 0.655222008548407 1.4424329288361524 0.1491802800252468 1.0 0.3888191371306491 6 P48735,P12235 2 |
| Abnormality of female external genitalia 0.4224431069833059 1.441252277776567 0.149513424073699 1.0 0.3894658948866907 35 O96011,Q15392,Q9UBM7,P10644,P16435,O60885,Q6KC79,P22570,P49711,P40855 10 |
| Erythroderma 0.6114455903983794 1.4362592289264344 0.150928590889471 1.0 0.3924828623470808 10 P48449,P00813,Q6P1M0,P29084,P18074 5 |
| Epiphyseal stippling 0.5625997129058851 1.4327682836669215 0.151924068022117 1.0 0.394623627935 13 O96011,Q14739,Q9UBM7,P10644,P38435,P40855,O00116 7 |
| Dyspnea 0.3222499802782095 1.432079919682527 0.1521209505035359 1.0 0.3949111587576212 101 Q16134,P51530,O75844,Q15165,O95831,O75306,Q10469,P03886,Q9NZJ7,Q8TCJ2,Q92734,P23786,P03915,P11310,P62857 15 |
| Mitochondrial respiratory chain defects 0.6410215811219319 1.4302849909064168 0.1526352407556954 1.0 0.3960218987217421 7 P03915,P03886 2 |
| Abnormal sputum 0.6518597919224174 1.4271825237172509 0.1535272905299305 1.0 0.3978857721765507 6 Q9NZ08 1 |
| Metatarsus valgus 0.5168838839632142 1.4246895955290475 0.1542469480048884 1.0 0.3994358748985434 3 Q9H5K3 1 |
| Breech presentation 0.6388902825741912 1.420346477676418 0.1555068364217482 1.0 0.401200633155659 7 Q969X5,O75718,Q9UBM7 3 |
| Progeroid facial appearance 0.637281109005309 1.412840284287793 0.1577026904991751 1.0 0.4057235979041104 7 O14802,P19447,O75844 3 |
| Abnormal sensory nerve conduction velocity 0.6483732827414315 1.4113588111848934 0.1581388414423734 1.0 0.4063893278120892 6 Q9NR77,Q12756,O15269 3 |
| Chronic fatigue 0.6368109784285022 1.4106469208914234 0.1583487491489523 1.0 0.4067006550451231 7 P04637,Q13423,Q9NZJ7 3 |
| Undetectable electroretinogram 0.5676168880796838 1.4081854051612757 0.1590761767857262 1.0 0.4081114457067177 4 Q96S66 1 |
| Abnormal circulating metabolite concentration 0.2663763726698535 1.406755026776498 0.1595000425534516 1.0 0.4089698908673281 355 Q8N511,P00390,P10644,P36543,P61619,P16930,P07196,Q16134,P04637,O43772,Q9BUB7,Q96DA6,Q15392,P41440,P03886,P03915,O95298,O95470,O96011,Q14739,Q15800,P22695,P34913,Q9P0J0,Q13423,Q9Y223,P30038,O43819,P53597,Q9H9P8,O75340,Q9UBM7,P49257,O75845,P23786,P11310,O14802,P36551,O14653,P22830,Q96CU9,Q92621,O43676,Q86VD7,Q9BTV4,Q4J6C6,Q12769,O75880,P51530,Q6NUQ1,Q9H5K3,O95831,P42167,Q8N183,Q86SX6,Q9Y6N5,O75844,Q9Y6B6,Q70HW3,Q8NFG4,O14678,Q9NZJ7,Q9Y375,O75306,Q86Y39,Q92734,P12235,P40855,P39210,O75962,O43505,P60866,O43709,Q9NVI7,Q15043,P48735,Q9Y276,P05023,P50402,Q96RR1,Q7Z4W1,P21964,P35610,P35222,P21359,Q9BPX6,Q969X5,Q7Z2Z2 88 |
| Irregular menstruation 0.6472767043154151 1.4063800310734642 0.1596113067045346 1.0 0.4090262904475266 6 P10644,Q06787 2 |
| Abnormal urine protein level 0.3711553951831268 1.4041933900580177 0.1602612696371901 1.0 0.4104623462703214 57 P00403,P09601,Q5JRA6,Q9Y5U9,P03886,Q6KC79,P03915,O95470 8 |
| Noncompaction cardiomyopathy 0.6061742601438536 1.4034929131949905 0.1604699037801811 1.0 0.4105135112253806 5 Q15233,Q96DA6 2 |
| Abnormal gastrointestinal motility 0.4385020876661168 1.402788103007986 0.1606800357062696 1.0 0.4105135112253806 30 P04637,P00403,Q96RR1,Q9UBM7,P03886,P03915,P16930 7 |
| Abnormal labia majora morphology 0.6047599476757689 1.402591762071941 0.1607386097549499 1.0 0.4105135112253806 10 Q9UQE7,Q6NUK1,P16435,O60885,Q6KC79,P49711 6 |
| Hypoplastic labia majora 0.6047599476757689 1.402591762071941 0.1607386097549499 1.0 0.4105135112253806 10 Q9UQE7,Q6NUK1,P16435,O60885,Q6KC79,P49711 6 |
| Long ear 0.4604068857590084 1.4002680765592277 0.1614330566832387 1.0 0.4116228523776292 2 Q7LBC6 1 |
| Multiple joint contractures 0.4782808780484895 1.3952687927925649 0.1629347990285901 1.0 0.4152209394599554 21 P51530,P41440,P29084,O75844 4 |
| Abnormal social behavior 0.335872795148745 1.394776945518487 0.1630831131555461 1.0 0.4152692621696413 70 Q96CU9,O75306,Q86Y39,O43676,Q06787,P03886,Q2TAA5,O95298,Q8N183,Q96RR1,Q15233,O43681,Q15067,Q9P0J0,P29084,P18074,O96008,Q8NFG4,P21359,Q96N67,Q9NZJ7,O43709,Q9Y375 23 |
| Tremor 0.3022584860788602 1.3945255506261676 0.1631589593533702 1.0 0.4152692621696413 182 O14802,O14653,O95319,Q15043,O14773,O75306,Q9H6K4,Q99720,Q92734,Q6DKK2,Q06787,P07196,P27635,Q9BRK0,Q9BUB7,Q96DA6,P41440,O95831,Q8N2K0,P03886,Q9NQH7,O15020,Q10713,Q8NI27,Q6P4A7,P12235,P03915,Q8WVX9,Q96RR1,Q15233,O43681,Q9H936,O75962,O43292,Q9Y287,Q8NI60,P29084,P18074,Q9C0E8,Q9ULM3,P21359,Q9NZJ7,Q9BPX6,P26358,O43709,Q5JTZ9,P04062,P61981,Q9UGM6,Q96DP5 50 |
| Visual field defect 0.3867685229286536 1.3936048075875729 0.1634369759504395 1.0 0.4155761508351352 48 P00403,O96011,Q969G3,P60866,P35222,O75306,Q9H6K4,P03886,Q9Y287,Q9H061,Q8WWV3,O15460,P03915,P40855,Q8TC12 15 |
| Widened cerebral subarachnoid space 0.6033966132317856 1.3901627181844805 0.1644794716786228 1.0 0.4170696952027947 5 P03915,P03886 2 |
| Abnormality of the basal ganglia 0.3276754561436075 1.3893496876127782 0.1647264415210338 1.0 0.4174649087662485 88 O14802,O75306,P37198,Q9UI09,Q99986,Q7KZN9,Q96DA6,Q9H269,O95831,P03886,P03915,Q8N183,Q14139,Q8NI60,Q9P0J0,P22570,O43819,P53597,P00403,O75340,Q9BPX6,P04062,P23786,Q96DP5 24 |
| Generalized hyperreflexia 0.6031453111643104 1.388956399559875 0.1648460086385457 1.0 0.417536988160208 5 P29084,P18074 2 |
| Diffuse cerebral atrophy 0.5185576843070515 1.3839528889662442 0.1663728805708242 1.0 0.4204654936363522 15 Q9H269,Q9H936,Q9NZJ7,Q10713,P22570,O14936,Q06787 7 |
| Lower eyelid coloboma 0.5627936110241207 1.3836651066746743 0.1664610225788614 1.0 0.4204654936363522 4 Q15427,O15160,Q13428 3 |
| Degeneration of the striatum 0.561946699658812 1.3793575201001669 0.1677845498966883 1.0 0.4224078300753924 4 P55265,P42858 2 |
| Gastroparesis 0.5850708705684715 1.378420840450488 0.1680733926197151 1.0 0.42267414104475 11 P12235,Q96RR1,Q9BUB7,Q10469 4 |
| Lactic acidosis 0.323047291017012 1.377771773846254 0.1682737633465028 1.0 0.4227735813167749 95 Q96CU9,O75306,Q86Y39,O43676,Q86VD7,Q9Y2R9,Q4J6C6,Q9BUB7,Q9Y276,P03886,Q10713,Q6P4A7,P12235,P03915,Q8N183,O75489,Q9Y6N5,P39210,O75648,Q8NI60,Q70HW3,O43819,P53597,P00403,Q5JTZ9,Q9Y375,Q9UGM6 27 |
| Lack of peer relationships 0.4566510172144076 1.3772457327530196 0.1684362868793329 1.0 0.4227735813167749 2 P51608 1 |
| Tetraplegia 0.5526934535207645 1.3770978163665373 0.1684820077443105 1.0 0.4227735813167749 13 P51572,Q13423,O95831,Q92734 4 |
| Tongue atrophy 0.5612276855621716 1.375699984509782 0.1689145367524807 1.0 0.4236269334427293 4 Q9NQT5,O00567,P07196 3 |
| Functional motor deficit 0.3013851619597686 1.3732007579626215 0.169689944137326 1.0 0.4251062460564396 153 Q9Y2R0,O14653,Q9H2D1,O14773,P10644,P37198,Q99720,Q7RTS9,Q92734,P07196,P27635,Q9Y276,Q969G3,Q93008,P51530,Q9H5K3,P03886,P12235,P03915,Q8WVX9,Q96RR1,O43681,Q15067,O43292,Q8NI60,P23786,P30038,O43819,O75298,P00403,O75340,Q9NZJ7,Q15041,Q9BPX6,P13807,P04062,P61981,Q96HY7,Q9UGM6 39 |
| Dilated third ventricle 0.5598068992407053 1.3684714064673662 0.171164566266073 1.0 0.4279820629479842 4 P26358,Q93009 2 |
| Eruption failure 0.6158309543681157 1.3681418311694824 0.171267685094699 1.0 0.4279820629479842 8 O75844 1 |
| Elevated urinary delta aminolevulinic acid 0.5596015090323074 1.3674263064162544 0.1714917214256872 1.0 0.4279820629479842 4 P16930 1 |
| Facial hemangioma 0.5983602752395891 1.3659782127817277 0.1719458018941164 1.0 0.4288816898632779 5 Q10469,Q9UBM7 2 |
| Fibrous tissue neoplasm 0.4932434843780135 1.3618897034901989 0.1732326961380619 1.0 0.4306865370833311 18 Q969G3,Q13126,Q15392,P35222,P21359 5 |
| Hypoketotic hypoglycemia 0.6057337842542523 1.3610241933128284 0.1735060440253417 1.0 0.4311305280499544 9 O43772 1 |
| Hypocholesterolemia 0.5963824064919093 1.3603556825474328 0.1737173955223023 1.0 0.4314096356985723 10 Q8NFG4,Q9UBM7,Q15800,Q9NZJ7,Q9Y6B6 5 |
| Steroid resistant nephrotic syndrome 0.5966053443279737 1.3575470055343075 0.1746074684366174 1.0 0.4327285298092558 5 Q92621 1 |
| Abnormal left ventricle morphology 0.4242076217763214 1.35743558018843 0.1746428493380023 1.0 0.4327285298092558 32 P00403,Q15233,O75880,P03886,P12235,P03915,Q86SX6 7 |
| Periventricular leukomalacia 0.5037076447050762 1.3573922370354206 0.1746566135395619 1.0 0.4327285298092558 16 P29084,Q5JTZ9,O95298,P18074 4 |
| Stomatitis 0.5319167121997787 1.356362469273353 0.1749838683783351 1.0 0.4329244518949954 14 Q9NZ08,Q8NBM4,P78527 3 |
| Pancreatitis 0.4632667074519633 1.3538707985521217 0.1757776013165308 1.0 0.4346535182041794 23 P03886,Q9NQH7,Q8NBM4,P03915,Q9NZ08 5 |
| Abnormality of renal excretion 0.635655246262452 1.3535663125438349 0.1758747805288001 1.0 0.4346592472400011 6 O43772 1 |
| Abnormality of the lens 0.2950015296301261 1.352530188010433 0.176205768330659 1.0 0.4347737374750025 211 Q06136,Q07020,P00390,Q9H6K4,Q8WWV3,Q16134,P18077,Q9BUB7,Q13126,Q9Y276,Q93008,Q9H5K3,P61586,Q8N2K0,P03886,Q10713,P12235,P03915,Q9NZ08,P40855,Q8WVX9,Q8IWS0,O95453,Q8TC12,O96011,Q96RR1,Q15800,Q9Y287,P21964,O60885,Q6KC79,P29084,P18074,P22570,Q8ND04,Q12948,O43505,P00403,P48449,O75340,Q9UBM7,P60866,P35222,O75533,O75845,O43709,Q9NVI7,Q8NBM4,P23786,O43395,P62857,Q96J42 52 |
| Abnormality of body mass index 0.5032422050904793 1.3488149471396875 0.1773964124559679 1.0 0.4366343144417172 3 Q8NI27 1 |
| Papule 0.4911502749677133 1.3481674078907486 0.1776045447364866 1.0 0.4368137541506076 18 Q9NZ08,Q8NFG4,O75844,Q8NBM4,P38435,P16615 6 |
| Gingival overgrowth 0.435471316573422 1.345277223215671 0.1785357261466078 1.0 0.4388683997874233 29 Q12756,Q93008,Q9UBM7,Q9Y5U9,P10644,Q10469,O75845,O43709 8 |
| Hyperglycemia 0.6335751584919929 1.3441051821437056 0.1789143765997134 1.0 0.4390924871879416 6 O75844 1 |
| Crumpled long bones 0.5023351069295854 1.343763299008639 0.1790249409821886 1.0 0.4391286293256898 3 O75718 1 |
| Pectus excavatum of inferior sternum 0.502112571505275 1.342523894393756 0.179426188196599 1.0 0.4398773645354825 3 P21359 1 |
| Raynaud phenomenon 0.6330991539485504 1.3419398148727786 0.1796155108314843 1.0 0.440106027074792 6 O75844,Q14739 2 |
| Hypoparathyroidism 0.546298076472602 1.34111614834996 0.1798827451176488 1.0 0.4405252475302334 13 P03915,P00403,P03886 3 |
| Hypoplasia of the odontoid process 0.6328278090201169 1.3407054066675306 0.1800161184629716 1.0 0.4406163754259273 6 O95831 1 |
| Abnormal substantia nigra morphology 0.5012913375753465 1.337949723899906 0.1809128264404251 1.0 0.4425747841697961 3 P04062 1 |
| Vomiting 0.3203593406133379 1.336922126049344 0.1812480576356794 1.0 0.4429219200462309 95 Q16134,Q9Y375,Q9UBM7,P39210,O75306,Q86Y39,O43676,P03886,Q9Y6B6,Q9NZJ7,Q13423,Q2TAA5,P23786,P03915,P11310,Q8N183 16 |
| Decerebrate rigidity 0.5531456468804892 1.334561335628311 0.1820199596440646 1.0 0.4440976864159233 4 Q9NZJ7 1 |
| Neonatal hypoglycemia 0.5759948424075282 1.3310290080625522 0.1831794662635937 1.0 0.4464290057776309 11 P42345,O43772,Q9UGM6 3 |
| Abnormal proportion of cd4 positive t cells 0.6079856193066586 1.3304103698528031 0.1833830997699781 1.0 0.4464290057776309 8 Q13432 1 |
| Gangrene 0.5758301925371284 1.3301688640854124 0.183462640305386 1.0 0.4464290057776309 11 Q9NZ08,Q8NBM4,O15460 3 |
| Right ventricular dilatation 0.448513302034439 1.3273067514460688 0.184407231413437 1.0 0.4484893494354398 2 Q7Z392 1 |
| Large earlobe 0.6071354563055571 1.3263198108729453 0.1847337875161774 1.0 0.449045206577785 8 Q96N67,Q15392 2 |
| Peripheral axonal degeneration 0.3258968459485183 1.322428906575503 0.1860253684521122 1.0 0.4507499937850758 80 P00403,Q12756,P39210,P41440,O95831,Q8TB36,Q9NZJ7,P03886,Q8IV08,Q92734,P12235,P03915,Q6DKK2,O15269 14 |
| Partial agenesis of the corpus callosum 0.5259101495857085 1.321155726903446 0.1864494449942195 1.0 0.4511207699604293 14 Q15392 1 |
| Increased connective tissue 0.6060235880144779 1.3209696171245071 0.1865114950906479 1.0 0.4511207699604293 8 O14802,O95831,Q15149,P07196 4 |
| Glomerular sclerosis 0.4089139906224827 1.3200177286732613 0.1868290989116663 1.0 0.4511207699604293 35 P00403,P21359,Q92621,O95470,P03886,P03915,Q12769,P61619,P16930 9 |
| Abnormal circulating carbohydrate concentration 0.3892061634400259 1.319791700113714 0.1869045734819709 1.0 0.4511207699604293 40 Q96RR1,Q9Y276,O95831,O75306,Q86Y39,O43676,P03886,Q9Y375,Q70HW3,Q8N183 10 |
| Stooped posture 0.4472613458529054 1.3196181052188083 0.1869625548969495 1.0 0.4511207699604293 2 P51608 1 |
| Abnormality of the extraocular muscles 0.4472613458529053 1.3196181052188072 0.18696255489695 1.0 0.4511207699604293 2 P43243 1 |
| Nonprogressive cerebellar ataxia 0.5492936224742871 1.3149396546688887 0.1885301841843683 1.0 0.4537002646705753 4 Q96DA6 1 |
| Increased circulating acth level 0.4963578111382208 1.31046066169516 0.1900400437411074 1.0 0.4564537887461672 3 P16435 1 |
| Abnormal t cell morphology 0.5065290653671748 1.3103636140809685 0.1900728565970508 1.0 0.4564537887461672 15 Q13432 1 |
| Extrapyramidal muscular rigidity 0.6252420076097349 1.306183695492799 0.1914900960854626 1.0 0.4588994338447658 6 Q9H6K4,Q9BPX6 2 |
| Abnormal 2nd finger morphology 0.5858594294793209 1.3058839780693552 0.191592015919912 1.0 0.4588994338447658 5 Q9H6K4 1 |
| Axonal regeneration 0.546664867596825 1.3015449965103367 0.1930719730493781 1.0 0.4619612430873372 4 Q8TB36 1 |
| Increased serum pyruvate 0.4066457795951911 1.2996892610429034 0.193707492478814 1.0 0.4632399428694811 35 Q9Y276,O95831,O75306,Q86Y39,O43676,P03886,Q9Y375,Q70HW3,Q8N183 9 |
| Abnormality of the parathyroid morphology 0.6129542430135194 1.2991676543921118 0.1938863993250124 1.0 0.4632800251647425 7 P48735,P21359,Q8NFG4 3 |
| Abnormal thoracic spine morphology 0.4297703856711782 1.2990508742068572 0.1939264705949315 1.0 0.4632800251647425 29 Q99575,O75844,O95831,Q10469,O75845,P51648,Q7RTS9,P04062,P29084,P18074 10 |
| Premature graying of hair 0.6008873354485209 1.296248963073685 0.1948897256450537 1.0 0.464719360777494 8 Q13126 1 |
| Knee flexion contracture 0.4391578117811403 1.2952911623083658 0.1952198067617991 1.0 0.4650501410171852 26 P27635,O75340,Q96AY3,P49902,Q86XL3,Q969X5,P23786 7 |
| Squamous cell carcinoma of the skin 0.5454055187197896 1.2951270601228142 0.1952764014223187 1.0 0.4650501410171852 4 P18074 1 |
| Recurrent paroxysmal headache 0.5538859512585327 1.294433490803334 0.19551572867437 1.0 0.4651365881547059 12 P03915,P00403,P21359,P03886 4 |
| Abnormal circulating long chain fatty acid concentration 0.6221356697268317 1.2920417209989834 0.1963426966161374 1.0 0.4668615650727253 6 O96011,P23786 2 |
| Abnormal vitamin b12 level 0.6110285322865966 1.290158425370582 0.1969956577194616 1.0 0.4678127000878743 7 P41440 1 |
| Narrow nasal ridge 0.621688292471195 1.290004779878556 0.1970489985092967 1.0 0.4678127000878743 6 O75844 1 |
| Abnormality of the musculature of the thigh 0.6107152169181128 1.2886925310397044 0.1975050001157789 1.0 0.4681675688207446 7 Q9BTV4,P50402,P07196 3 |
| Oromandibular dystonia 0.6211437326198648 1.2875252985993564 0.1979112576123975 1.0 0.4686456756485818 6 Q9H269,Q99720 2 |
| Impaired distal proprioception 0.5435815528108194 1.2858307172171652 0.1985021474469812 1.0 0.4698020865713161 4 Q96RR1 1 |
| Aplasia hypoplasia of the scapulae 0.5429348809524523 1.282534527581043 0.1996552008802181 1.0 0.4715567682645152 4 Q7RTS9 1 |
| Abnormality of the parathyroid gland 0.4578950033753793 1.2816953673988258 0.1999495306797087 1.0 0.4720086293531301 22 P00403,Q8NFG4,P21359,P03886,P48735,P21964,P03915 7 |
| Type i transferrin isoform profile 0.5803985438100395 1.279672035505334 0.2006605035477069 1.0 0.4731993964259357 10 O75340,Q9H0U3 2 |
| Methylmalonic aciduria 0.6083561720914177 1.277654751941831 0.2013711860880136 1.0 0.4738997301773386 7 O14678,P53597 2 |
| Methylmalonic acidemia 0.6083561720914177 1.277654751941831 0.2013711860880136 1.0 0.4738997301773386 7 O14678,P53597 2 |
| Abnormality of krebs cycle metabolism 0.618566667642537 1.2757906496895195 0.2020295337551636 1.0 0.4750464263633406 6 P03886 1 |
| Ventricular preexcitation 0.5883594760932368 1.2754399254338715 0.202153574709492 1.0 0.4750464263633406 9 P03915,O75306,Q96DP5,P03886 4 |
| Reticulated skin pigmentation 0.4400625978090853 1.2753873776778857 0.2021721641006491 1.0 0.4750464263633406 2 O60832 1 |
| Delayed puberty 0.3646679750615089 1.2744752518791684 0.2024950379404551 1.0 0.4750464263633406 54 O14802,Q8IWS0,P27635,Q15233,Q93008,Q15800,O75844,P35222,P21359,P16435,Q8IY37,O00170,Q9NVI7,P04062,O60885,Q6KC79 16 |
| Gray matter heterotopia 0.4364296320037533 1.2741692469367392 0.2026034415412017 1.0 0.4750464263633406 26 Q9UBM7,Q9H5K3,Q86XL3,Q2TAA5,O43505,Q06787 6 |
| Abnormal circulating pyruvate family amino acid concentration 0.4522759227153911 1.273931037343158 0.2026878576037387 1.0 0.4750464263633406 23 P03915,O95298,P03886 3 |
| Abnormality of the antihelix 0.5177442741699587 1.2732702875304045 0.2029221464184247 1.0 0.4751964839235687 14 O75962,P16435,Q10469 3 |
| Albinism 0.4896681277395213 1.273165552746947 0.2029593014051558 1.0 0.4751964839235687 3 Q86YV9,O00203 2 |
| Neoplasm of the adrenal cortex 0.5779446852126917 1.2678044717878183 0.2048677848635609 1.0 0.4786864815119002 5 P48735,P10644 2 |
| Progressive sensorineural hearing impairment 0.5488689717918285 1.2672419300354312 0.2050687972400466 1.0 0.4789119413628409 12 P03915,P03886 2 |
| Unilateral renal agenesis 0.4726224563951986 1.2651734696495858 0.205809150625339 1.0 0.4801514909191972 19 Q9UBM7,Q86XL3,P16435,P10644,Q00534 5 |
| Hammertoe 0.4652957347046981 1.2578916490419323 0.2084309442402112 1.0 0.4850333095523859 20 Q99720,Q8TB36,Q9UBM7 3 |
| Abnormality of pancreas physiology 0.3782237761527113 1.257025147536994 0.208744529630336 1.0 0.4854459707100347 41 P04637,Q9UJW0,P00403,P09601,P03886,Q9NQH7,Q8NBM4,P03915,Q9NZ08,P16930,Q7Z2Z2 11 |
| Hypermetric saccades 0.4866152790411819 1.2561408340970672 0.209064913487218 1.0 0.4854459707100347 3 P18887 1 |
| Macrovesicular hepatic steatosis 0.5826151251263536 1.247128583352427 0.2123503538263365 1.0 0.4901709426862841 9 Q9Y375,P23786 2 |
| Cervical subluxation 0.435367762128336 1.2465287332456034 0.2125703472395876 1.0 0.4904316873372562 2 P16278 1 |
| Tissue ischemia 0.4634766909254503 1.245435014228006 0.2129718893339167 1.0 0.4910677844844078 20 P35222,O75844,O43709,Q8NBM4,O15460,Q9NZ08 6 |
| Large beaked nose 0.611848159052977 1.245194127840711 0.2130604006012664 1.0 0.4910677844844078 6 Q12797,P18074,P55265,O14802 4 |
| Abnormal aggressive impulsive or violent behavior 0.3123482405767475 1.2440970521148549 0.2134638458712938 1.0 0.4915031868252605 98 Q13409,P51572,Q6DKK2,Q06787,P27635,Q969G3,Q93008,Q9H269,P05023,Q10469,Q10713,Q15233,Q03164,Q9H936,O75962,Q6KC79,Q8ND04,Q12756,Q9UBM7,Q9UGM6 20 |
| Abnormal echocardiogram 0.5721581971583367 1.2399579504887248 0.2149909475992171 1.0 0.4940714547376963 5 P12235 1 |
| Abnormal myocardium morphology 0.2949506063186686 1.2399048745849035 0.2150105806955404 1.0 0.4940714547376963 178 Q96CU9,O75306,Q86Y39,O43676,P48735,Q9BTV4,Q9UI09,P50542,P16930,O43772,Q7KZN9,Q9BUB7,Q96DA6,Q96IX5,Q9Y276,Q93008,Q9H5K3,P03886,O00170,P42167,P12235,P03915,Q9NZ08,Q8N183,P50402,P40855,O75489,O96011,Q15233,Q96RR1,Q8WXH0,Q9P0J0,Q13423,Q9Y223,Q9UIG0,P29084,P18074,O43819,P53597,P00403,P21359,O43709,Q5JTZ9,Q9H061,P04062,P13807,Q8NBM4,Q9NVI7,P23786,Q9Y375,Q9UGM6,Q96DP5 52 |
| Self injurious behavior 0.3751956680868271 1.2387663098305284 0.2154320538487901 1.0 0.4945439232140062 44 P27635,Q12756,Q9UBM7,O75962,Q9H936,P05023,Q10469,Q10713,Q8NI27,Q6KC79,Q8ND04,Q06787 12 |
| Spastic dysarthria 0.5808462770241715 1.2384107668941928 0.2155637903712346 1.0 0.4945985415528278 9 O14802,Q86SX6,P54886,Q96GW9,Q9H2M9,Q8WVX9 6 |
| Spasticity 0.2529793265445092 1.237462072999428 0.2159155864086217 1.0 0.4948136335818112 309 O14802,P49914,O95319,Q15043,Q13409,P49902,Q96CU9,O75306,Q9H6K4,P36543,P37198,Q99720,Q7RTS9,Q709C8,Q9UI09,Q92734,Q12955,Q6DKK2,P07196,Q7KZN9,Q9BRK0,Q9Y276,Q15392,Q9Y320,Q96DA6,Q15165,O95831,P03886,Q8N2K0,O15020,Q10713,Q2TAA5,Q8NI27,Q15022,P03915,O95298,Q8N183,P40855,Q86SX6,Q8WVX9,O96011,O43681,Q14139,Q9H936,O43292,Q86XL3,Q9Y287,Q9P0J0,P29084,P18074,Q9UBX3,O43505,Q14671,P22570,O43819,O75298,Q12756,Q9H9P8,Q5MNZ6,P35610,P35222,Q96JM3,Q9NZJ7,Q15041,O43709,Q5JTZ9,Q9NVI7,Q96GW9,P61981,P51648,P26358,P04062,Q9UGM6,Q96DP5 74 |
| Increased urine alpha ketoglutarate concentration 0.5714285714285795 1.2364466771296143 0.2162925748177997 1.0 0.4950465965637124 5 P21912,P21281,P00367,P30038 4 |
| Abnormal t cell subset distribution 0.5431302373210475 1.2361378750411915 0.2164073184018149 1.0 0.4950465965637124 12 Q13432 1 |
| Abnormality of the calcaneus 0.5802652137671998 1.2355470414967011 0.2166269803337246 1.0 0.4953018083279073 9 Q7RTS9,Q14739,O75147 3 |
| Cranial asymmetry 0.6094576399425713 1.2343072185124797 0.2170884471127254 1.0 0.4961093589379093 6 O14802,P40855,O95202 3 |
| Abnormal glial cell morphology 0.3525059823837449 1.2323457533095754 0.2178199554704922 1.0 0.4972850204114576 59 P04637,Q16134,Q7KZN9,Q9H9P8,P60866,P42345,P21359,O75306,O95831,P48735,P37198,Q10713,Q8NI27,Q92734,Q99986,O43819 16 |
| Abnormal subarachnoid space morphology 0.4088649609141815 1.2264399931606185 0.2200331437653728 1.0 0.5003433571875625 32 P00403,Q12756,O75340,O95831,P03886,Q2TAA5,P03915,Q9UGM6 8 |
| Retinal vascular tortuosity 0.4923901121147206 1.2238078419068514 0.2210247253645951 1.0 0.5023488549705234 15 O43709,P03915,O75306,P03886 4 |
| Arthrogryposis multiplex congenita 0.3911080663840265 1.2214473209895822 0.2219166996124961 1.0 0.5034515106266869 37 Q12756,Q15392,O75844,Q96AY3,Q8NCH0,Q969X5,P04062,Q9NXE4,P18074 9 |
| Open mouth 0.4199736880368268 1.2196408036237474 0.2226010711635568 1.0 0.5045118899756519 29 Q12756,Q15233,Q96JM3,P42345,P10644,Q10469,Q86XL3,P62266,Q10713 9 |
| Hepatic failure 0.3632655827617884 1.2195458962071843 0.2226370671171471 1.0 0.5045118899756519 52 O43772,O96011,P22830,Q6NUQ1,P03886,O75845,Q10713,O15460,P23786,P03915,P40855 11 |
| Wide anterior fontanel 0.4489924428321989 1.2181738018854726 0.2231579329932804 1.0 0.5045482752127939 22 Q16134,O96011,Q32P28,P42345,P16435,P40855 6 |
| Increased adipose tissue 0.5302276750167405 1.2177515445075515 0.2233184030147024 1.0 0.5045482752127939 4 O14802,P31751 2 |
| Muscle fiber atrophy 0.4589600311635465 1.2145118305110536 0.2245523349539262 1.0 0.5063478340348868 20 Q99720 1 |
| Serositis 0.4481124283676504 1.2118971956718598 0.2255517357669045 1.0 0.5081013044660554 22 Q9NZ08,Q92621,Q8NBM4,O15460,Q12769 5 |
| Micromelia 0.447937504313749 1.210649649668125 0.2260297070861465 1.0 0.5089278220485128 22 Q14739,Q15392,Q9UBM7,P10644,P48735,O60885,Q6KC79,O75147 8 |
| Difficulty climbing stairs 0.4744762342453383 1.2040801709796336 0.2285585932116935 1.0 0.5138643150618155 17 P40939,O95140,O75340,Q96RR1,Q9H5K3,P12235,Q92734,Q9H3H5 8 |
| Focal t2 hyperintense brainstem lesion 0.4573843594870707 1.2037272211447934 0.2286950274231232 1.0 0.5139188894814862 20 O75306,O43676,P03886,Q9Y375,Q8N183 5 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.5918363429346373 1.2003543339188651 0.2300017562871064 1.0 0.5160960074963377 7 Q5JRA6,Q7RTS9 2 |
| Cone shaped epiphyses of the phalanges of the hand 0.5918363429346373 1.2003543339188651 0.2300017562871064 1.0 0.5160960074963377 7 Q5JRA6,Q7RTS9 2 |
| Spastic paraplegia 0.3614369458522747 1.1996238411473448 0.2302854630239594 1.0 0.5164796826117388 52 O75298,Q7KZN9,Q12756,Q9BRK0,P49902,O95831,O75306,Q8N183,Q96DP5 9 |
| Abnormal saccadic eye movements 0.4264849689413494 1.1972123988255765 0.2312237783670041 1.0 0.5175707633012276 26 Q12756,O75306,Q8IV08,O15020,P18887 5 |
| Clonus 0.4053651861772306 1.1965938594189254 0.2314648950569757 1.0 0.5176047580044231 32 Q99720,Q9H5K3,Q12756,O75298 4 |
| Abnormal sex determination 0.475743661167718 1.195510952511189 0.2318874596318352 1.0 0.5180440468225592 3 Q14781 1 |
| Ambiguous genitalia 0.4496671933285583 1.1948519565178994 0.2321448764817488 1.0 0.5183663859841 21 Q9UBM7,Q96J42,Q15392,O75845 4 |
| Progressive cerebellar ataxia 0.3762785192042073 1.1938737763502547 0.2325273468606798 1.0 0.5187920172996399 40 O75489,Q7KZN9,P41440,Q96CU9,O75306,O14773,Q8NI60,Q9P0J0,O15020,Q96GW9,Q9UI09,Q8N183,Q96DP5 13 |
| 3 methylglutaconic aciduria 0.5041886459469592 1.1937853627102335 0.2325619387894937 1.0 0.5187920172996399 14 Q9NVI7,Q9BUB7,Q96DA6,Q9H6K4 4 |
| Anterior uveitis 0.4746399499060845 1.1893570270729834 0.2342992034549924 1.0 0.5219051775550683 3 P14174,P01889 2 |
| Retinal pigment epithelial atrophy 0.5245776986858419 1.188951179173312 0.2344588789129922 1.0 0.5220070860929691 4 Q8TC12 1 |
| Resting tremor 0.4480119372073762 1.1832657371950597 0.2367038472714102 1.0 0.5259830398630464 21 Q96RR1,Q9H6K4,Q9NZJ7,Q9BPX6,P26358,P04062,Q709C8,P12235,Q06787 9 |
| Widened subarachnoid space 0.4154060783928192 1.1826550110779304 0.2369459009794008 1.0 0.5262331864687047 29 P00403,Q12756,O75340,O95831,P03886,Q2TAA5,P03915,Q9UGM6 8 |
| Keratoconjunctivitis 0.547532968226627 1.1822905112031576 0.2370904493132646 1.0 0.5262331864687047 11 P29084,Q9NZ08,Q14739,Q8NBM4 4 |
| Infectious encephalitis 0.5692517274048531 1.1812827287569692 0.2374904260769765 1.0 0.5264543455658958 9 Q9NZ08,Q14739,Q9BUB7,Q8NBM4 4 |
| Anhidrosis 0.5590469725021534 1.1768741201844577 0.2392457530010261 1.0 0.5295768310389863 5 Q12756 1 |
| Visual loss 0.3556863220396666 1.1744937104540558 0.2401973297178286 1.0 0.5303163937904666 54 P00403,P48449,Q12756,Q969G3,P35222,P21359,O75306,Q9NZJ7,P03886,Q10713,Q92734,O15460,P03915,Q12948,Q8TC12 15 |
| Abnormal vascular physiology 0.3611420911831451 1.1743192641462654 0.2402671699580889 1.0 0.5303163937904666 51 P04637,P00403,Q14739,P35222,O75844,P21359,O14678,P03886,O43709,Q8NBM4,O15460,P03915,Q9NZ08,P49711 14 |
| Ankle clonus 0.4998404389094797 1.1683081887734972 0.2426824734472528 1.0 0.5342423124417749 14 O75298,Q12756,Q9NZJ7 3 |
| Abnormal glucose homeostasis 0.2901952806328116 1.1666824788800698 0.2433386211150385 1.0 0.5342423124417749 187 Q06136,P42345,O75306,P10644,O43676,Q86Y39,Q9Y2R9,Q92734,P16930,Q06787,P04637,Q16134,O43772,Q9Y276,O75880,Q5JRA6,P03886,P12235,P03915,Q8N183,O95470,O95453,Q86SX6,Q96RR1,P39210,O75844,Q9Y5U9,Q13423,P00403,Q9Y375,P35610,P35222,O43395,O43709,P23786,P11310,Q9UGM6,Q7Z2Z2 38 |
| Corneal erosion 0.5566881551095773 1.1655306082669468 0.2438042779474534 1.0 0.5342423124417749 5 P51648,P01889,P39210 3 |
| Bifid scrotum 0.5843602723973841 1.1653902681436326 0.2438610547910613 1.0 0.5342423124417749 7 Q9UBM7 1 |
| Decreased serum complement c3 0.4219092331768495 1.1638086746597742 0.2445015559123464 1.0 0.5342423124417749 2 Q03252 1 |
| Abnormal natural killer cell physiology 0.4219092331768477 1.1638086746597631 0.2445015559123509 1.0 0.5342423124417749 2 O00203 1 |
| Abnormal proportion of double negative alpha beta regulatory t cell 0.4219092331768468 1.1638086746597578 0.2445015559123531 1.0 0.5342423124417749 2 P49327 1 |
| Burkitt lymphoma 0.4219092331768468 1.1638086746597578 0.2445015559123531 1.0 0.5342423124417749 2 P49327 1 |
| Coombs positive hemolytic anemia 0.4219092331768468 1.1638086746597578 0.2445015559123531 1.0 0.5342423124417749 2 P49327 1 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 0.4219092331768468 1.1638086746597578 0.2445015559123531 1.0 0.5342423124417749 2 P49327 1 |
| Follicular hyperplasia 0.4219092331768468 1.1638086746597578 0.2445015559123531 1.0 0.5342423124417749 2 P49327 1 |
| Increased b cell count 0.4219092331768468 1.1638086746597578 0.2445015559123531 1.0 0.5342423124417749 2 P49327 1 |
| Erythema 0.4511789553042311 1.161278975753152 0.2455284665916626 1.0 0.5359749566093368 20 P00403,Q9H1A4,Q06136,P22830,P51648,P03886,P03915,P18074 8 |
| Hypoplastic vertebral bodies 0.5929073019375634 1.158963058264773 0.2464712433781533 1.0 0.5370576009283747 6 Q6NUQ1,Q14739,P10644 3 |
| Synovitis 0.4689098971538383 1.1574180554692666 0.2471016008014164 1.0 0.5376161134245442 3 O14802 1 |
| Type 1 muscle fiber atrophy 0.5919412088759124 1.1545681135550292 0.248267330647931 1.0 0.539599837266618 6 Q9BTV4,P50402 2 |
| Dysmetric saccades 0.5917613024693746 1.1537497398746734 0.2486027851372205 1.0 0.5398568537908742 6 O15020 1 |
| Spinal deformities 0.5174706502965694 1.152741432717662 0.2490165298267559 1.0 0.5402432479480093 4 Q9Y223,Q8TB36 2 |
| Abnormality of the nasal skeleton 0.5537568683095825 1.1514381509214835 0.2495520261625454 1.0 0.5408928022122911 5 P10644,P35222 2 |
| Thin ribs 0.4960167753264795 1.1459184195854275 0.2518289090194079 1.0 0.5445399061476768 14 Q32P28,O95831,O75844 3 |
| Abnormality of fontanelles 0.3659710501241963 1.1454447006299509 0.2520249903953817 1.0 0.5447068424488863 44 O14802,Q16134,O96011,P26640,Q32P28,P42345,O75844,P16435,P36543,Q8NCH0,O15111,P50542,O75718,P40855 14 |
| Progressive external ophthalmoplegia 0.4794796184026205 1.1448442533038308 0.2522736800212342 1.0 0.5449872710312565 15 P00403,P51530,P03886,P12235,P03915 5 |
| Nemaline bodies 0.5152642553436998 1.1415062098175748 0.2536593293200364 1.0 0.5468030671651108 4 O43676 1 |
| Tubulointerstitial nephritis 0.5516645317518665 1.1413822329828378 0.2537108949788358 1.0 0.5468030671651108 5 P23786 1 |
| Ocular anterior segment dysgenesis 0.3083881878074603 1.1398611186015437 0.2543441658603829 1.0 0.5475332084510378 93 Q16134,P18077,P00403,O96011,P48449,P60866,Q15800,P21359,P03886,O43709,Q9NVI7,O95202,P03915,Q12948,P62857,P29084,Q96J42 17 |
| Sensory neuropathy 0.3747707204588849 1.139566093161894 0.2544671181862235 1.0 0.5475332084510378 39 P00403,O95831,P03886,Q8IV08,Q92734,P03915,Q15041,O15269 8 |
| Respiratory distress 0.3524462029692281 1.1385516694189708 0.2548901964073509 1.0 0.5480447608650192 54 Q16134,O95831,Q10469,P03886,Q9NZJ7,Q8TCJ2,P23786,P03915,P62857 9 |
| Polyneuropathy 0.4377429123477546 1.138007836029732 0.2551172102924464 1.0 0.5480447608650192 22 O96011,P21359,O95831,Q9NZJ7,P03886,P03915,Q15041 7 |
| Decreased calvarial ossification 0.5145737650668749 1.137990892749914 0.2551242852302675 1.0 0.5480447608650192 4 O75844 1 |
| Demyelinating peripheral neuropathy 0.4531603900772553 1.1349004112848262 0.2564170475939185 1.0 0.5500481798105499 19 P41440,P03886 2 |
| Limb ataxia 0.4183081807126607 1.1340373085365727 0.2567788986220389 1.0 0.5503091269813762 26 O75298,P41440,O15020,Q8IV08 4 |
| Generalized clonic seizure 0.5500451454603693 1.1336014185536658 0.2569617777357533 1.0 0.5504436024241336 5 Q9H936,O14936,Q9NZJ7 3 |
| Paroxysmal involuntary eye movements 0.4402691827896321 1.129120021613106 0.2588472063131544 1.0 0.5534474565221061 21 O75306,O43676,P03886,Q9Y375,Q8N183 5 |
| Optic neuropathy 0.4146995409924411 1.1269037276114882 0.2597831871658553 1.0 0.5541942239260959 27 O75306,O43676,P03886,P03915,Q9Y375,Q8N183 6 |
| Dermatological manifestations of systemic disorders 0.3124389659195736 1.1229790384563396 0.2614463970694309 1.0 0.5560692463245945 75 Q16134,O43772,O96011,Q6NUQ1,Q9Y5U9,P00374,P49711,Q86SX6 8 |
| Barrel shaped chest 0.5477928330145747 1.1227828503877342 0.2615297306480797 1.0 0.5560692463245945 5 Q32P28,Q7RTS9 2 |
| Adrenal overactivity 0.5472536495854585 1.120193597503096 0.2626312717198549 1.0 0.5578935962078697 5 P10644 1 |
| Persistence of primary teeth 0.5840297786739495 1.118599136016525 0.2633111922292843 1.0 0.5590787223329846 6 O75844 1 |
| Gonadal dysgenesis 0.5210777852092517 1.1167466574113236 0.2641026623583178 1.0 0.5599983522084454 12 P29084,P18074,Q96RR1,Q8IY37 4 |
| Short 1st metacarpal 0.5739441430078476 1.1167272462178026 0.264110964452739 1.0 0.5599983522084454 7 Q9UQE7,O60885,Q6KC79 3 |
| Aplasia hypoplasia of the patella 0.5091633512653174 1.1104604838597691 0.2668006471844326 1.0 0.5639473353845084 4 Q96AY3 1 |
| Pace of progression 0.2886330996492479 1.1102888978910603 0.2668745556286476 1.0 0.5639473353845084 171 O14802,P26640,O14653,Q15043,O14773,Q99720,Q9BTV4,Q709C8,Q9UI09,Q92734,Q99986,P61619,P07196,Q9BRK0,Q13126,P51530,P41440,O95831,P05023,Q8N2K0,O15020,Q10713,P12235,Q8N183,O95470,P50402,Q96RR1,P39210,Q9P0J0,Q14671,O75298,P27544,Q12756,O75340,Q5MNZ6,Q9ULM3,Q8TB36,P26358,Q8IV08,Q5JTZ9,P04062,P18887 42 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4204139943424828 1.1100951039537978 0.2669580468024877 1.0 0.5639473353845084 25 P03915,O95298,P03886 3 |
| Agenesis of corpus callosum 0.3103714771121869 1.1091420312387483 0.2673689152874159 1.0 0.5642949653832058 82 O14802,Q00535,Q13409,P29372,Q13363,Q00839,Q969G3,Q15392,Q8TAQ2,Q9H5K3,P03886,Q10713,Q15022,P03915,Q00534,Q14004,Q86XL3,O95202,P29084,P18074,O43505,P00403,P23786 23 |
| Abnormal biliary tract morphology 0.4245567282919824 1.1049486294437805 0.2691818490921873 1.0 0.567076428754208 24 Q14739,Q9Y276,Q93008,O43681,P09601,Q9NZJ7,Q10713,P04062,Q9UJW0 9 |
| Abnormality of the bladder 0.2788922407888792 1.1022619920920418 0.2703477880426361 1.0 0.5677055750739499 124 Q8NCH0,Q99720,Q00839,Q06787,P07196,Q9BRK0,Q969G3,Q93008,Q9Y4A5,P12235,Q00534,Q8WVX9,O96011,Q96RR1,O43681,O75962,Q86XL3,P16435,P21964,O60885,Q6KC79,O75298,Q12756,Q9NZJ7,P26358,O43709,Q96GW9,P04062,Q96DP5 29 |
| Spinal cord lesion 0.5604611973993474 1.101759529856886 0.270566228893869 1.0 0.5678163533143857 8 O75298,Q86SX6 2 |
| Abnormal arterial physiology 0.4114617823434832 1.1015706168086947 0.2706483883977779 1.0 0.5678163533143857 27 P04637,Q15056,O00443,Q14739,P55265,P35222,O75844,O43709,Q8NBM4,Q9UIG0,O15460,Q9NZ08,Q9NWM8 13 |
| Areflexia 0.3047189186887019 1.1008897057462717 0.2709446629058016 1.0 0.5681587786383023 95 Q00535,O14653,Q9H6K4,Q92734,P50542,P07196,P41440,Q9H5K3,O95831,P05023,Q9BQT8,P12235,O96011,Q96RR1,P39210,Q15067,Q9Y6B6,Q9Y223,P30038,O43505,O43819,O15269,P53597,Q12756,O75340,Q8TB36,Q969X5,P18887,Q15041 29 |
| Chorioretinal degeneration 0.5071577652116683 1.1002625766446898 0.2712177326272802 1.0 0.5681587786383023 4 P28347,P35222 2 |
| Chorioretinal atrophy 0.5071577652116683 1.1002625766446898 0.2712177326272802 1.0 0.5681587786383023 4 P28347,P35222 2 |
| Long hallux 0.5067495423164811 1.0981874108018044 0.2721226623127517 1.0 0.5690853668265762 4 P10644 1 |
| Hemianopia 0.5595791489800033 1.097526514023268 0.2724112968654055 1.0 0.5694290886119016 8 P03915,P00403,Q969G3,P03886 4 |
| Keratitis 0.5174131514152176 1.0969499228507844 0.272663283556164 1.0 0.5694389698391524 12 P29084,Q9NZ08,Q14739,Q8NBM4 4 |
| Ankyloblepharon 0.5424103074407062 1.096946960157498 0.2726645787488215 1.0 0.5694389698391524 5 O15111,P18074,O75569 3 |
| Curly eyelashes 0.5785413650148186 1.093674522881169 0.2740977519073762 1.0 0.5721712525009557 6 O60885,Q6KC79 2 |
| Weakness due to upper motor neuron dysfunction 0.2843563304866673 1.0906314376317074 0.275435090536072 1.0 0.5744395015185627 143 P49902,O75306,Q9H6K4,Q7RTS9,Q92734,P51572,Q6DKK2,Q7KZN9,Q9BRK0,O95831,P03886,P03915,Q9NZ08,Q8N183,O43681,Q13423,P29084,Q9UBX3,O75298,P00403,Q12756,P60866,Q9NZJ7,Q8NBM4,Q15041,Q96DP5 26 |
| Decreased activity of the pyruvate dehydrogenase complex 0.4306288424584123 1.0874295008907102 0.2768470393725206 1.0 0.5768590879512913 22 O75489,Q7KZN9,Q96CU9,O75306,Q9P0J0,Q9UI09,Q8N183,Q96DP5,Q86SX6 9 |
| Osteopenia 0.3095381394077224 1.0841079610325202 0.278316933460399 1.0 0.5792340624904314 76 O14802,Q32P28,P10644,P49711,O75718,Q9H1A4,Q13126,Q93008,Q5JRA6,Q10469,O75844,Q96AY3,Q9Y5U9,O43292,P29084,P18074,P21359,Q9NZJ7,O43709,P04062,Q7Z2Z2 21 |
| Puberty and gonadal disorders 0.2865828318143228 1.0837222363747223 0.2784879732934171 1.0 0.5792340624904314 158 O14802,P62070,P10644,P48735,Q9Y2R9,Q4J6C6,Q13363,Q06787,P04637,P27635,Q9H1A4,Q9Y276,Q969G3,Q93008,Q5JRA6,Q14781,P03886,O00170,Q92620,P03915,Q9BPU6,O95470,Q8IWS0,Q96RR1,Q15233,Q15800,O75648,O75844,Q9Y5U9,Q9H936,P16435,Q13423,Q9UIG0,O60885,Q6KC79,O95202,P18074,O14936,P00403,P48449,Q9UBM7,P35222,P21359,Q8IY37,O43709,Q9NVI7,P04062,O43395,Q02750 49 |
| Abnormal circulating protein concentration 0.2863229125875273 1.0832356923487776 0.2787038209162213 1.0 0.5792340624904314 156 O14653,Q8N511,P36543,Q86VD7,Q92734,P16930,O43772,Q9Y276,P51530,P41440,Q9H5K3,O95831,P42167,P12235,P50402,O95470,Q86SX6,Q9Y6N5,Q96RR1,P39210,Q9Y6B6,Q7Z4W1,O43505,O75340,P35222,Q9BPX6,O43709,Q969X5,P23786,P11310,Q7Z2Z2 31 |
| Fetal distress 0.4062304585812657 1.0831421529338858 0.2787453312508514 1.0 0.5792340624904314 28 O75306,Q86Y39,O43676,P03886,Q8N183,Q9Y375,P49711 7 |
| Abnormality of the 5th toe 0.5564137168476111 1.082342470377319 0.2791003810432264 1.0 0.5794462827095892 8 Q96J42,Q9UBM7,O75845 3 |
| Postaxial foot polydactyly 0.5564137168476111 1.082342470377319 0.2791003810432264 1.0 0.5794462827095892 8 Q96J42,Q9UBM7,O75845 3 |
| Increased nuchal translucency 0.4598215739520475 1.0810255274896026 0.2796857584963794 1.0 0.5803986165898599 16 Q15056,Q9UBM7,Q9UQE7,O43709,Q9UIG0,O60885,Q6KC79 7 |
| Skin plaque 0.538607761102929 1.0787128888215785 0.280715738186966 1.0 0.5818098996751796 5 Q06136 1 |
| Periventricular cysts 0.5752284305768933 1.0786433076941615 0.2807467673901838 1.0 0.5818098996751796 6 O95202 1 |
| Severe postnatal growth retardation 0.5274622138162663 1.0776364147780797 0.2811960447484913 1.0 0.5824775212647321 11 P27635,Q6KC79,O60885,O95202 4 |
| Rhabdomyolysis 0.45897299326423 1.075702271545877 0.2820604312152417 1.0 0.5834767024055248 16 O43772,P23786 2 |
| Macrogyria 0.5650142656170857 1.0750810216762494 0.2823384554876296 1.0 0.5835249449906715 7 Q9H5K3,Q15392 2 |
| Adenomatous colonic polyposis 0.4536631183469123 1.0725803887759966 0.2834594276998983 1.0 0.5853306839178565 3 P28340,P20585 2 |
| External ophthalmoplegia 0.4284449408702639 1.0719287629819634 0.2837520299486264 1.0 0.5856539645155885 22 P00403,P51530,P03886,P12235,P03915,Q8N183 6 |
| Sarcoma 0.3384050398504804 1.0679993698751162 0.2855207960347898 1.0 0.5882123576579222 59 P18077,Q13126,Q969G3,Q07020,Q15392,P60866,Q8NFG4,P35222,P21359,P10644,P48735,O60885,P62857 13 |
| Coxa vara 0.4826794799504005 1.067974462119254 0.285532031663414 1.0 0.5882123576579222 14 Q99575,Q96AY3,O95831,Q7RTS9,P50542 5 |
| Hypoglycemic seizures 0.572177164526219 1.064809871532302 0.2869619770733655 1.0 0.5902799832017 6 P40939,Q13423,P00367 3 |
| Osteosarcoma 0.4143790906097642 1.0646186077812974 0.2870485557721023 1.0 0.5902799832017 25 P18077,Q13126,P60866,Q07020,P62857 5 |
| Abnormal localization of kidney 0.3273920582758958 1.0621344945570883 0.2881746324000338 1.0 0.5910546847166316 64 P18077,Q969G3,Q93008,Q07020,P51530,P60866,Q9UBM7,P16435,Q8NCH0,O43709,O75845,Q6KC79,O15111,P62857 14 |
| Scrotal hypoplasia 0.4363841482136771 1.0603397674261332 0.2889900536194631 1.0 0.5921969703418516 20 Q8IWS0,Q9UBM7,Q9Y5U9,Q9Y4A5,P16435,P46977,Q8TCJ2 7 |
| Abnormality of the odontoid process 0.561662531674211 1.0594726058430963 0.2893845987048693 1.0 0.5927403805389858 7 O95831 1 |
| Progressive spastic paraplegia 0.3966422810561841 1.0583642605562065 0.2898894066140265 1.0 0.5932439754825679 30 O75298,Q7KZN9,Q12756,Q8N183,Q96DP5 5 |
| Abnormality of the anterior fontanelle 0.3925455701359653 1.05452880731245 0.2916408788166655 1.0 0.5946396166421641 31 O14802,Q16134,O96011,P26640,Q32P28,P42345,P16435,P36543,O15111,P50542,O75718,P40855 12 |
| Juvenile cataract 0.559223141274987 1.0481220451402058 0.2945823806349938 1.0 0.5983051720166409 7 Q01082,Q9H1A4,Q8WVX9,Q8TC12 4 |
| Alopecia of scalp 0.5488566157988007 1.0461436337025016 0.2954947223148485 1.0 0.599233930535176 8 Q6P1M0,P61586,P19447,P29084,P18074 5 |
| Elevated hepatic transaminase 0.2960078184695845 1.0452920966207764 0.2958879893151565 1.0 0.5996279376568098 103 Q8N511,P16930,P04637,O43772,Q9Y276,Q96DA6,O75880,Q6NUQ1,Q10713,Q2TAA5,P12235,P40855,Q86SX6,Q14739,Q96RR1,P39210,P22695,Q9Y5U9,Q15067,Q9Y6B6,Q9Y223,O75845,P23786,P11310,Q7Z2Z2 25 |
| Adrenal hyperplasia 0.5308183444164216 1.04141793103579 0.2976816241000204 1.0 0.602463428280165 5 P16435 1 |
| Biliary tract abnormality 0.4008266649564872 1.0403449937846156 0.2981796473701412 1.0 0.6031915211112574 28 O95202,Q14739,Q9Y276,Q93008,O43681,P09601,Q9NZJ7,Q10713,P04062,Q13363,Q9UJW0 11 |
| Ureteral duplication 0.5405094539675365 1.0400758392783762 0.2983046675770644 1.0 0.6031915211112574 9 O75844,P23786 2 |
| Deviation of the thumb 0.438652902506141 1.038181235117294 0.2991856871219731 1.0 0.6041731240162542 19 Q9UBM7,Q10469,Q6KC79 3 |
| Pathologic fracture 0.4437586080978617 1.0378779377053866 0.2993268860619897 1.0 0.604191978826448 18 Q9Y5U9,Q13126,O75845 3 |
| Decreased circulating copper concentration 0.4009389671361602 1.0352803505980648 0.3005380035603309 1.0 0.606102611053449 2 Q15904 1 |
| Anorexia 0.405369217098755 1.0344392982769337 0.3009308406879245 1.0 0.6066278539516367 26 P04637,P35610,P10644,Q13423,Q8NBM4,O15460,Q9NZ08 7 |
| Abnormal platelet morphology 0.5651690429892637 1.0330813441800029 0.3015658330415842 1.0 0.6070663796874897 6 O75845 1 |
| Multicystic kidney dysplasia 0.4257261403848624 1.0277806367680824 0.3040530266058701 1.0 0.6112247334250922 21 O96011,Q9UBM7,Q10713,Q96J42,Q6KC79,P40855 6 |
| Absent forearm bone 0.527924480172351 1.0275851755447545 0.3041450004821497 1.0 0.6112247334250922 5 O75962 1 |
| Diffuse mesangial sclerosis 0.4468409983709113 1.0270775362267457 0.3043839554181957 1.0 0.6113856208832608 17 O43707,Q12769,O95470,Q92621 4 |
| Limb girdle muscle weakness 0.4043534101901547 1.0266469884394525 0.304586719656561 1.0 0.6113856208832608 26 P51530,O75340,Q13126,Q9NZJ7 4 |
| Microphallus 0.4923092885926869 1.0249303955248326 0.3053960313904262 1.0 0.612128003425605 4 Q9Y4A5,Q8NI27 2 |
| Abnormality of tibia morphology 0.4508178586261708 1.0246345995748358 0.3055356324698255 1.0 0.6121400384681855 16 Q32P28,P21359,O95831,P16435,Q7RTS9 5 |
| Lacticaciduria 0.5540386529067844 1.024027206041494 0.3058224248829935 1.0 0.6121792707793255 7 P03886 1 |
| Generalized edema 0.4915050294402575 1.0208604714439071 0.3073205492837456 1.0 0.6141049964318022 4 Q9NSD9 1 |
| Chorea 0.3032044459322296 1.0187183526824448 0.3083366971205141 1.0 0.6155985822249219 85 O75306,Q9H6K4,P37198,Q99720,Q86VD7,Q96IX5,P03886,P03915,Q14139,O43681,Q9H936,Q9P0J0,P18074,O43819,Q14671,P53597,Q12756,Q9NZJ7,Q9BPX6 19 |
| Increased muscle lipid content 0.5357181848266328 1.0166426858029642 0.3093234401030944 1.0 0.6162026819214407 9 Q8NI60,P53597,P23786 3 |
| Abnormal scapula morphology 0.3463751723167876 1.0164184894723995 0.3094301446288736 1.0 0.6162026819214407 51 P18077,Q15427,Q14739,O75340,P60866,Q07020,P16435,Q7RTS9,Q9Y223,P62857,P50402,O75147,P07196 13 |
| Brushfield spots 0.5255791754336738 1.01638481381628 0.3094461744000949 1.0 0.6162026819214407 5 O96011 1 |
| Abnormality of circulating enzyme level 0.2933635075756966 1.0155145102582173 0.3098606333185498 1.0 0.6166508525114164 104 O14653,Q86VD7,Q92734,O43772,P51530,Q9H5K3,O95831,P42167,P12235,P50402,Q9Y6N5,Q96RR1,P39210,Q7Z4W1,O43505,O75340,Q9BPX6,O43709,P23786,P11310 20 |
| Honeycomb lung 0.442222608034121 1.009165030036547 0.3128954946651425 1.0 0.6217203627734966 3 O95453 1 |
| Crackles 0.442222608034121 1.009165030036547 0.3128954946651425 1.0 0.6217203627734966 3 O95453 1 |
| Contractures of the joints of the lower limbs 0.3435960931424397 1.0066072013522291 0.314123572448199 1.0 0.623334919038162 52 P49902,P36543,Q15149,Q99720,Q9BTV4,O60231,O60313,P27635,Q8N2K0,Q9H3H5,P50402,Q8IWS0,Q96AY3,Q86XL3,Q8WXH0,O75340,Q08J23,Q969X5,P23786,Q96L73 20 |
| Ovarian cyst 0.4470385608802618 1.0010331173789044 0.3168107978044754 1.0 0.6269143532942862 16 Q15056,Q14781,P16435,Q8IY37,P10644,O43709,Q9UIG0,P20585 8 |
| Hypopigmented macule 0.4874829392108206 1.0005263557753028 0.3170558495243878 1.0 0.6269960735954877 4 Q15233 1 |
| Abnormal circulating nitrogen compound concentration 0.3429328341158478 0.9994952569122958 0.3175548356099802 1.0 0.6271140229279776 52 O43772,P49257,Q86VD7,P23786,P11310 5 |
| Hypoplasia of the iris 0.5576710302345524 0.9992148204343212 0.317690637976302 1.0 0.6271140229279776 6 Q12948,O95202 2 |
| Cutaneous photosensitivity 0.4181380084148607 0.998989419145503 0.3177998169442959 1.0 0.6271140229279776 22 P29084,Q06136,Q9UBM7 3 |
| Elevated pulmonary artery pressure 0.4053031209392676 0.9964845363308992 0.3190147768303395 1.0 0.6284289369890868 25 O75844,O14678,P03886,P03915,P49711 5 |
| Ventricular tachycardia 0.4703157854874618 0.9960417788834232 0.3192298461955896 1.0 0.6284765692841922 14 O43772 1 |
| Cerebral dysmyelination 0.5383299533848882 0.9958700665933164 0.3193132809457877 1.0 0.6284765692841922 8 P29084 1 |
| Abnormal renal physiology 0.2823641852895981 0.99502178200444 0.3197256705453637 1.0 0.628762977680305 164 P36551,Q96CU9,O75306,P10644,Q92621,O43676,Q8NCH0,Q86Y39,Q12769,P61619,P16930,Q16134,O43772,Q9Y276,P09601,P05023,P03886,O43707,Q9NQH7,Q10713,P03915,Q9NZ08,Q8N183,O95470,P40855,O75489,O60885,P30038,Q6KC79,P23458,O43819,P00403,P49257,P21359,O43709,P04062,Q8NBM4,O15460,P23786,Q9Y375 40 |
| Patchy hypopigmentation of hair 0.4395742016280579 0.994527088306016 0.3199663243339601 1.0 0.628762977680305 3 P02545,P49327 2 |
| Neck muscle weakness 0.4845731569344019 0.9944420678381314 0.3200076961917222 1.0 0.628762977680305 13 Q99720 1 |
| Acanthocytosis 0.5552300641141894 0.9882101783003746 0.3230497243845953 1.0 0.6331859662490982 6 O75845 1 |
| Supranuclear gaze palsy 0.425692853757559 0.9877795478087782 0.3232606260779773 1.0 0.6331859662490982 20 Q96RR1,Q9NZJ7,Q99720,P04062,P30038 5 |
| Acral blistering 0.3931142410015758 0.9875679553530936 0.3233642865610808 1.0 0.6331859662490982 2 Q15149 1 |
| Blistering by anatomical location 0.3931142410015758 0.9875679553530936 0.3233642865610808 1.0 0.6331859662490982 2 Q15149 1 |
| Ectodermal dysplasia 0.3931142410015746 0.9875679553530858 0.3233642865610846 1.0 0.6331859662490982 2 P21281 1 |
| Prominent nasolabial fold 0.5458826997303662 0.986213698636753 0.3240282585260421 1.0 0.6337899342795645 7 P21359,Q93008,Q8NCH0 3 |
| Abnormality of the nasolabial region 0.5458826997303662 0.986213698636753 0.3240282585260421 1.0 0.6337899342795645 7 P21359,Q93008,Q8NCH0 3 |
| Abnormal labia morphology 0.4403560658368333 0.9858106958464165 0.324226016139524 1.0 0.6337899342795645 17 Q9UQE7,Q6NUK1,P16435,Q8IY37,O60885,Q6KC79,P49711 7 |
| Peripheral demyelination 0.4306621331196849 0.9851729647913388 0.3245391178914572 1.0 0.6340562082356231 19 P03915,Q8TB36,Q9NZJ7,P03886 4 |
| Neoplasm of the gallbladder 0.4843327863940532 0.9846248868698348 0.324808360582296 1.0 0.6340562082356231 4 Q9NZJ7 1 |
| Biliary tract neoplasm 0.4843327863940532 0.9846248868698348 0.324808360582296 1.0 0.6340562082356231 4 Q9NZJ7 1 |
| Impaired distal tactile sensation 0.4833226664440537 0.9795308554036944 0.327317750568183 1.0 0.6376572844827444 4 O15269 1 |
| Abnormal synaptic transmission at the neuromuscular junction 0.3929987627917449 0.978599863448648 0.3277777267883641 1.0 0.6382819992113405 28 P11310,Q15165,O75340 3 |
| Leukodystrophy 0.3267974899999424 0.9768409092764444 0.3286479195531235 1.0 0.6397046590452048 61 Q7KZN9,O75306,Q86Y39,O43676,P03886,Q9NZJ7,Q9Y375,Q8N183,Q96DP5,Q86SX6 10 |
| Hypoplastic female external genitalia 0.466911350718955 0.976308739617678 0.3289114902941632 1.0 0.6399458380160747 14 P49711,P16435,Q6KC79 3 |
| Bell shaped thorax 0.4355040701314999 0.9720684723968408 0.3310164854801369 1.0 0.6425056300473843 3 Q8WVQ1,Q96HY6 2 |
| Apnea 0.2965311546940901 0.971963949144906 0.3310684837498634 1.0 0.6425056300473843 94 O43772,Q7KZN9,O75880,Q8NFG4,P51530,O75306,Q86Y39,Q9NZJ7,P03886,Q10713,P23786,P03915,Q8N183,Q96DP5 14 |
| Laryngomalacia 0.4796248109719195 0.9669119166684316 0.3335880688958745 1.0 0.6453628820364288 13 P27635,P16435,Q9NZJ7,P36543,P21964,Q7Z2Z2 6 |
| Abnormal involuntary eye movements 0.2413155609377605 0.9643349978087756 0.3348779999143465 1.0 0.6474307998344032 299 O14773,P36543,P37198,Q99720,Q9UI09,P07196,O43772,Q15392,P41440,Q8N2K0,P03886,O15020,P03915,Q8WVX9,Q8IWS0,O96011,Q15067,Q9P0J0,P29084,P18074,P22570,O43819,Q9H9P8,O75340,Q9UBM7,P26358,Q8IV08,Q9H061,P04062,P18887,Q96DP5,O14802,O95319,Q96CU9,O43676,Q8WWV3,Q13363,Q6DKK2,P50542,Q7KZN9,O95831,O00139,Q92620,Q9BPU6,Q8N183,Q5UCC4,Q86SX6,O75489,O75648,Q9UIG0,Q12948,O14936,O95299,Q12756,Q8IY37,Q9NZJ7,O15460,Q9Y375,Q02750,Q9UGM6,O75027,P42356,P55265,P62070,P49902,O75306,Q86Y39,Q9H6K4,Q10713,P12235,P40855,P39210,O43292,Q6KC79,O43709,Q5JTZ9,Q9NVI7,Q06787,P61586,Q8NI27,Q96RR1,O60885,O95202,P35222,Q96GW9,P61981,O43395 87 |
| Abnormality of the shoulder girdle musculature 0.3811155580596803 0.9598653798212036 0.3371229721240729 1.0 0.6512215254099926 31 Q96RR1,O75340,Q9NZJ7,Q9BTV4,Q9Y223,P12235,P50402,O75147,P07196 9 |
| Impaired vibration sensation in the lower limbs 0.463930512431514 0.9590622418059582 0.3375273904557985 1.0 0.6513707177582704 14 O75298,O43819,Q9BRK0,Q8WVX9 4 |
| Slow decrease in visual acuity 0.5165975738051697 0.9587778699513416 0.3376706599654364 1.0 0.6513707177582704 10 P03915,O75306,Q969G3,P03886 4 |
| Poor head control 0.3003771209880371 0.958359416957394 0.3378815519936675 1.0 0.6513707177582704 75 O75340,Q9H5K3,Q9H936,O75306,Q86Y39,O43676,P03886,Q9NZJ7,Q9UGM6,Q10713,Q9Y375,P00374,Q8N183 13 |
| Brain imaging abnormality 0.3476614372566713 0.9568397175484822 0.3386481618505272 1.0 0.6519688561340823 42 Q9Y6N5,P00403,Q969G3,P35610,P21359,O75306,Q9NZJ7,P03886,Q969X5,P03915,O43819,P53597 12 |
| Abnormal glomerular mesangium morphology 0.4306194211775033 0.9526554890482396 0.3407646526373926 1.0 0.6541611270376294 18 O43707,Q12769,O95470,Q92621 4 |
| Decreased activity of mitochondrial complex ii 0.4779204509865472 0.9523312375684788 0.3409290203766606 1.0 0.6541611270376294 4 P21912,P31040,Q9Y697 3 |
| Intellectual disability progressive 0.4901732014675835 0.9505927972601154 0.341811126408122 1.0 0.6553048456912197 12 P18074,Q15067,O95831,Q10469 4 |
| Increased susceptibility to fractures 0.3297554847746934 0.9494659997733236 0.3423836566273899 1.0 0.6560198791974029 58 P04637,Q14739,Q12756,Q13126,P39210,P35222,Q32P28,Q96AY3,Q9Y5U9,P10644,P16435,O75845,P48735,P04062,O15269,O95453 16 |
| Fasting hyperinsulinemia 0.477105640154597 0.9482355280255866 0.3430095641699315 1.0 0.6560198791974029 4 P40939 1 |
| Amaurosis fugax 0.5215999872053235 0.947868485583522 0.3431964101852807 1.0 0.656039195439698 9 Q9ULM3,P60866,O15460 3 |
| Myopathy 0.2889629004616665 0.9474925610633312 0.3433878450921019 1.0 0.6561314037581365 104 P00403,O75340,Q13126,Q9Y375,P51530,O75306,Q86Y39,O43676,P03886,Q8NCH0,Q9Y6B6,P42167,P12235,P23786,P03915,P11310 16 |
| Abnormality of the auditory canal 0.4295451453449274 0.9457186358659234 0.3442921146958144 1.0 0.6575850227328979 18 Q15427,O95202,P16435,O60885,Q6KC79 5 |
| Increased circulating gonadotropin level 0.5137031353868372 0.9443761746704584 0.3449774520888029 1.0 0.658345141803788 10 Q14781,P16435,Q06787 3 |
| Abnormal epiphyseal ossification 0.4290901335035608 0.942782135535666 0.3457923511343992 1.0 0.6584060924646965 18 O96011,Q14739,Q9UBM7,Q9UG56,P10644,Q7RTS9,P38435,P40855,O00116 9 |
| Onion bulb formation 0.5205200002750036 0.9426273312984984 0.3458715549023405 1.0 0.6584060924646965 9 Q9NR77,O95140,Q8TB36,P07196 4 |
| Abnormal temper tantrums 0.5262309713698348 0.938366943199264 0.348055867954872 1.0 0.661294645745686 8 P49711,Q06787,P35222 3 |
| Myositis 0.5123487070249501 0.937645078432602 0.3484268370746859 1.0 0.661294645745686 10 Q9NZ08 1 |
| Personality changes 0.4327189553723979 0.9374180591238764 0.3485435551016655 1.0 0.661294645745686 17 P03886 1 |
| Abnormal arm span 0.4286161552911713 0.9341785369000296 0.3502118051852163 1.0 0.6632148454420397 3 Q9BYW2,Q96L73 2 |
| Increased arm span 0.4286161552911713 0.9341785369000296 0.3502118051852163 1.0 0.6632148454420397 3 Q9BYW2,Q96L73 2 |
| Abnormal circulating carboxylic acid concentration 0.2938920944490094 0.9333828060338372 0.3506223546800324 1.0 0.6635900987789792 94 P00390,P48735,P16930,Q16134,Q9BUB7,Q96DA6,O75880,P41440,P03886,P03915,O95298,P40855,Q86SX6,Q14739,P22695,Q9P0J0,P30038,P53597,O14678,O75845,P23786,Q7Z2Z2 22 |
| Dilated cardiomyopathy 0.345026231294531 0.9328577739826662 0.3508934068248404 1.0 0.6638288976347724 43 P00403,Q96RR1,Q96DA6,O75306,P03886,P42167,P12235,P23786,P03915,O43819 10 |
| Oral ulcer 0.5246521249020308 0.9308895748231212 0.3519106877885252 1.0 0.6642476811677821 8 Q9NZ08,Q8NBM4 2 |
| Melanocytic nevus 0.4990563305199992 0.9306757556849328 0.3520213144332915 1.0 0.6642476811677821 11 P62070,Q96AY3,P10644,Q15022,P18074 5 |
| Corneal opacity 0.3246784542782478 0.9303641022757714 0.3521825984161633 1.0 0.6642476811677821 60 O14802,Q06136,Q13363,Q9H5K3,P40855,O96011,O75844,P34913,O95202,O15111,P18074,Q12948,O43505,Q9UBM7,P10619,P51648,O75845,O43709,Q9NVI7,P04062,Q96J42 21 |
| Childhood onset 0.3592708533432598 0.9297621556536806 0.3524942446588983 1.0 0.6642476811677821 37 O60488,Q14566,Q9H269,P22830,Q5JRX3,Q8TB36,Q8WXH0,Q9NR77,Q8WWV3,O95298,P50402,Q5UCC4 12 |
| Thoracic kyphosis 0.4270497803841841 0.9296265787342276 0.3525644610650471 1.0 0.6642476811677821 18 Q99575,O95831,Q10469,P51648,Q7RTS9,P29084,P18074 7 |
| Abnormality of pain sensation 0.3890825108635386 0.9276951402481646 0.3535657300543902 1.0 0.665363479114223 27 Q12756,P39210,O95831,P07196,Q8NCH0,P30038,O15269,Q06787,Q8WVX9 9 |
| Abnormal astrocyte morphology 0.4267419974698165 0.9276438698410592 0.3535923334009456 1.0 0.665363479114223 18 P04637,P55265,P42345,P21359,O95831,P37198,P48735,P20585 8 |
| Abnormality of vitamin b12 metabolism 0.4854082807244318 0.9251937598630018 0.354865128839436 1.0 0.6666633949742911 12 P41440 1 |
| Glucose intolerance 0.28430371599408 0.9217157020061332 0.3566768880340656 1.0 0.6690835834228608 108 O14802,Q06136,Q96CU9,O75306,P10644,O43676,Q86Y39,Q06787,P04637,Q5JRA6,P03886,O00170,Q92620,P12235,P03915,Q8N183,O95453,Q86SX6,O75489,Q96RR1,O75844,Q9Y5U9,P00403,P35222,O43395,O43709,Q9NXE4,Q9Y375,Q7Z2Z2 29 |
| Proximal upper limb amyotrophy 0.5395266695519526 0.9177078294307132 0.358771847591611 1.0 0.6723487139733177 6 Q9BTV4,P50402 2 |
| Abnormality of the musculature of the upper arm 0.5395266695519526 0.9177078294307132 0.358771847591611 1.0 0.6723487139733177 6 Q9BTV4,P50402 2 |
| Confusion 0.43336993893521 0.916117952781856 0.359605032601749 1.0 0.6729844166237472 16 P40939,O14802,P36551,O96008,P26358,P18074,Q8NBM4,P30038,Q9NZ08 9 |
| Abducens palsy 0.4253105891807733 0.9160539184002982 0.3596386156719724 1.0 0.6729844166237472 3 Q9NZJ7 1 |
| Lissencephaly 0.3399539776141948 0.9156912860858052 0.3598288367088345 1.0 0.6729844166237472 49 Q16134,Q9Y320,P78527,Q15392,Q9H5K3,Q9H936,Q86XL3,P23786,O43505 9 |
| Pulmonary cyst 0.5389625887800636 0.9151860694189058 0.3600939565726211 1.0 0.6731744222830477 6 O95453,Q8NFG4 2 |
| Developmental regression 0.271294976940053 0.9147998453085864 0.3602967160402537 1.0 0.6732646905304829 132 O14802,O95319,Q15043,O14773,O75306,P37198,Q86VD7,Q96DA6,Q96IX5,O95831,P03886,P03915,Q9NZ08,O95298,O95470,P40855,Q8WVX9,Q86SX6,O96011,O43681,Q15067,Q9H936,Q8NI60,P18074,P22570,O43819,Q9H9P8,P60866,P35222,Q9NZJ7,O43709,Q8NBM4,P61981,P13073 34 |
| Dyspareunia 0.4700619997287972 0.912912259837504 0.3612886890939049 1.0 0.6743074433516384 4 O00170,Q8WWQ0 2 |
| Abnormality of corneal stroma 0.4697343822002185 0.9121295242972064 0.3617005379141838 1.0 0.6748012478512989 13 P34913,P10619,O75845,P18074,P04062,Q12948,O43505 7 |
| Abnormal lymphocyte morphology 0.3540140931804992 0.911201016337124 0.362189468639075 1.0 0.6748890383506473 38 Q10469,O95470,Q13432 3 |
| Bronchiectasis 0.428124078612848 0.9084301285810832 0.3636510137374817 1.0 0.6765119549107355 17 Q13432 1 |
| Renal cyst 0.3164073488117287 0.9024464217713312 0.3668197707052187 1.0 0.6812548603694674 63 Q16134,O96011,Q8NFG4,Q9UBM7,Q9NQH7,O43709,Q10713,P21964,P23786,O60885,Q6KC79,Q96J42,O43505,P61619,P40855 15 |
| Stillbirth 0.5051699629994608 0.9020619455870336 0.367023962390796 1.0 0.6812548603694674 10 O75844,Q14739,P16435 3 |
| Convex nasal ridge 0.4129156285317318 0.9017142635839812 0.3672086740199296 1.0 0.6812548603694674 20 O14802,P51530,O75844,Q10469,O95202,P18074 6 |
| Hyperthyroidism 0.5050313239631862 0.9013763833235912 0.367388233808219 1.0 0.6812548603694674 10 Q96RR1,P21964,Q06787,P12235 4 |
| Ischemic stroke 0.4223544145272372 0.8998811255641318 0.3681835155455168 1.0 0.6816229770624478 3 O00443,P18583 2 |
| Abnormal enchondral ossification 0.3853681395716393 0.8991289817425647 0.3685839625882283 1.0 0.6819933401533592 27 P40855,O95202,Q14739,O96011,Q9UBM7,Q9UG56,P10644,Q7RTS9,Q13363,P38435,O00116 11 |
| Antineutrophil antibody positivity 0.422041327489047 0.8981703729300407 0.3690947257988477 1.0 0.6824826608596934 3 P61011,P49327 2 |
| Abnormality of the optic nerve 0.256953907409326 0.897296874966359 0.3695605235873769 1.0 0.6830683013623885 263 O14802,O95319,Q15043,P49902,Q96CU9,O75306,P10644,O43676,Q86Y39,P37198,Q9H6K4,Q9UG56,Q96S66,Q9UI09,Q8WWV3,Q13363,P51572,Q92734,Q00839,P07196,P04637,Q7KZN9,Q96DA6,Q969G3,P41440,Q9H5K3,O95831,P61586,Q8N2K0,P03886,Q10713,P03915,Q9NZ08,O95298,Q8N183,P40855,Q86SX6,O96011,Q96RR1,O43681,Q9Y5U9,Q15067,O43292,Q9Y287,Q9P0J0,P21964,Q6KC79,Q8ND04,P18074,P22570,O43819,P38435,O43505,O95202,P00403,Q9H9P8,Q12756,Q9UBM7,P35222,O43395,Q9NZJ7,Q9BPX6,P26358,Q9H061,P04062,Q8TCJ2,Q8NBM4,O15460,Q96J42,Q9NVI7,Q9Y375,Q9UGM6,P61981,Q96DP5 74 |
| Dental crowding 0.3698922321371031 0.8969538401051306 0.3697435487732452 1.0 0.6831310243866974 32 Q15233,Q8NFG4,Q9UBM7,O75844,O75962,Q10469,Q92643 7 |
| Gastric ulcer 0.4213445460612753 0.8943645468072504 0.3711268749570224 1.0 0.685410455885964 3 P04062 1 |
| Abnormality of vitamin b metabolism 0.4373918439849698 0.8898080286248186 0.3735689748321078 1.0 0.6893648983812799 15 P41440,O14678,P53597,P30038 4 |
| Primary adrenal insufficiency 0.4372772011380337 0.8891222398420029 0.3739373876931464 1.0 0.6897669526610294 15 O96011,Q969G3,P16435,Q13423,P40855 5 |
| Interrupted aortic arch 0.4201393543665904 0.8877867078122257 0.3746554942538633 1.0 0.6897903693125211 3 P53597 1 |
| Bile duct proliferation 0.4974196021615498 0.882861953210439 0.3773108623564076 1.0 0.6934770843630403 5 O15078,Q9NSD9 2 |
| Abnormal size of the clitoris 0.4268821645329261 0.8761151181337835 0.3809674548203607 1.0 0.6987961881452734 16 O96011,Q9UBM7,P16435,P22570,P50542,P40855 6 |
| Poor suck 0.3766470905860812 0.8720901375828229 0.3831592060332456 1.0 0.7017373452157731 29 Q15233,Q9UBM7,P22695,Q8TAQ2,O75962,Q9H936,O75306,O43819,P50542 9 |
| Broad palm 0.5292299535407798 0.8718140962293556 0.3833098032878381 1.0 0.7017373452157731 6 Q7RTS9,O95831,P10644 3 |
| Abnormality of upper limb epiphysis morphology 0.4486245533913771 0.8710578687103037 0.3837225567983249 1.0 0.7017454955459329 14 Q5JRA6,P10644,P16435,Q7RTS9,O95202 5 |
| Tonic seizure 0.3884151531137521 0.8709149925314412 0.3838005700214115 1.0 0.7017454955459329 25 Q9Y6N5,Q12756,Q9H936,Q96N67,Q9NZJ7 5 |
| Telangiectasia 0.3701040696987088 0.8695965558856734 0.3845209206141928 1.0 0.7027088488461205 31 Q14739,P35222,P21359,O75306,P10619,P03886,P03915,P18074,O95453 9 |
| Abnormality of the glabella 0.5203567686563528 0.8688464526939832 0.3849311212582944 1.0 0.7027088488461205 7 P21359,O95202 2 |
| Lymphopenia 0.3785614370455475 0.8657883485236303 0.386606239887042 1.0 0.7051870187748513 28 O95470,Q13432 2 |
| Increased bone mineral density 0.3783828365367324 0.8644035646973214 0.3873662353356064 1.0 0.7061269207399631 28 Q14739,Q13126,Q15392,Q15043,O43709,P04062,Q9UIG0,P29084,P18074 9 |
| Reduced tendon reflexes 0.2751542175487284 0.8587892999334753 0.3904567719611802 1.0 0.7103949197605643 181 Q00535,O14653,O95319,Q9H6K4,Q99720,Q9BTV4,Q92734,Q06787,P07196,P41440,Q9H5K3,O95831,P05023,P03886,Q8N2K0,Q10713,P12235,P03915,P50402,P40855,O95453,O96011,Q96RR1,P39210,O43681,Q96AY3,Q15067,Q9Y6B6,Q9Y223,P30038,P29084,P18074,O43505,O43819,O15269,P53597,Q12756,O75340,P35610,Q8TB36,Q9NZJ7,P26358,Q969X5,P04062,P61981,P18887,P11310,Q15041 48 |
| Progressive gait ataxia 0.4720393653298775 0.8543872241973102 0.3928904723550812 1.0 0.7138081460471778 12 O15020,Q96RR1,Q9NZJ7,O43681 4 |
| Axonal degeneration 0.5166449670410284 0.8519378668961265 0.394248578350753 1.0 0.715707997624069 7 Q6DKK2,Q8TB36 2 |
| Abnormal conjugate eye movement 0.2414043553510213 0.8497541006989081 0.3954618131108789 1.0 0.716836895112143 321 Q07020,P42345,O75306,Q86Y39,O43676,Q8NCH0,P10644,Q99720,P36543,Q9UI09,P51572,P49711,Q00839,Q06787,P27635,P18077,Q7KZN9,Q969G3,Q15392,Q93008,Q9H5K3,P61586,P03886,O15020,Q10713,Q2TAA5,P12235,Q8NI27,Q8N183,O95470,P40855,Q86SX6,O96011,Q15233,Q14004,Q96RR1,Q03164,Q14739,Q9H936,O75962,Q15067,P16435,Q8NI60,Q9P0J0,P21964,O60885,Q6KC79,P29084,Q8ND04,Q12948,P38435,O95202,P30038,P18074,O43819,P53597,Q9H9P8,O75340,Q9UBM7,P60866,P35222,Q9UGM6,P21359,Q9NZJ7,O43709,Q9H061,Q9NVI7,Q9Y375,P62857,Q96DP5 70 |
| Aggressive behavior 0.2922418337047229 0.8496922326077639 0.3954962179929064 1.0 0.716836895112143 74 Q15233,Q969G3,Q9UBM7,Q03164,Q9H269,Q13409,O75962,Q10469,Q10713,P51572,Q6DKK2,Q9UGM6,Q06787 13 |
| Large intestinal polyposis 0.5152430983719529 0.8455643369935009 0.3977958275103499 1.0 0.7199091883211102 7 P04637,Q8NFG4 2 |
| Short middle phalanx of finger 0.455935114247233 0.8425878946112166 0.3994589636362227 1.0 0.7211809851409381 4 Q03164 1 |
| Abnormal lower limb bone morphology 0.2744790457078415 0.8418889444805311 0.3998501191677173 1.0 0.7211809851409381 172 O14802,Q32P28,P10644,Q7RTS9,Q9NX62,Q13363,P49711,P50542,O75718,O75147,O00116,P04637,Q06787,Q9H1A4,Q15392,Q99575,Q93008,Q6NUQ1,Q9H5K3,Q5JRA6,Q9Y4A5,O95831,Q10469,Q10713,Q9BPU6,Q8IWS0,Q15427,Q14739,P00813,Q03164,O75844,Q96AY3,Q9H936,P16435,P21964,O60885,Q6KC79,P29084,P18074,O43505,O95202,O15111,P53597,Q12756,Q9UBM7,P21359,Q9NZJ7,O75845,Q969X5,P04062,Q9NXE4,P13073,Q96J42,Q7Z2Z2 54 |
| Abnormality of the 1st metacarpal 0.4928956684566362 0.8416387755630296 0.3999901778940251 1.0 0.7211809851409381 10 O75962,Q15233,Q6KC79 3 |
| Abnormal bronchus morphology 0.3985983361652001 0.8411679140790222 0.4002538728095604 1.0 0.7211809851409381 21 Q9H0U3,P16435,Q13432 3 |
| Abnormality of the ureter 0.3045097992702126 0.8398385767643425 0.4009989006671084 1.0 0.7215213779794901 66 O14802,Q9UQE7,Q15149,Q96L73,Q00839,Q14839,Q9Y4A5,Q9NVI1,Q00534,Q15056,O75844,O15078,Q12830,Q9H936,P16435,Q86XL3,P21964,Q9UIG0,O60885,Q6KC79,O14936,Q9UBM7,O43709,P23786,Q96J42 25 |
| Soft tissue sarcoma 0.3695638284583549 0.8393603856539829 0.4012671067001552 1.0 0.7215213779794901 30 Q13126,Q8NFG4,Q15392,Q969G3,P35222,P21359,P10644 7 |
| Antenatal onset 0.4564328059803271 0.8390878562267845 0.4014200101509808 1.0 0.7215213779794901 13 P27635,O95298,O75147 3 |
| Bilateral single transverse palmar creases 0.4429477936115104 0.8387006086278921 0.4016373367219876 1.0 0.7215213779794901 14 O96011,P40855,Q6KC79 3 |
| Generalized myoclonic seizure 0.3353739210707585 0.8386490346459452 0.4016662857966031 1.0 0.7215213779794901 43 Q12756,Q9H936,Q9Y5U9,P03886,P03915 5 |
| Caesarian section 0.45412510481359 0.8336360300747884 0.4044861158411745 1.0 0.7246420917434148 4 O14802 1 |
| Abnormality of the pancreas 0.2910139169330859 0.8335154322465258 0.404554098025371 1.0 0.7246420917434148 74 P04637,Q9UJW0,P00403,P60866,P09601,P10644,P03886,Q9NQH7,Q8NBM4,O60885,Q96J42,P03915,Q9NZ08,P16930,O95453,Q7Z2Z2 16 |
| Abnormality of hair pigmentation 0.397408602264277 0.8330912555351585 0.4047932649061225 1.0 0.7246420917434148 21 Q13126 1 |
| Dolichocephaly 0.3580582062926574 0.8294127948931376 0.4068708638422302 1.0 0.7268917140665 33 P27635,O95202,O96011,Q03164,Q10469,Q7RTS9,Q969X5,Q4J6C6,Q13363,O75147,P40855 11 |
| Cellulitis 0.4859022556391077 0.8289389923778927 0.4071389297603804 1.0 0.7270111364622227 5 P40763,P02545,Q8IWT6,P52732 4 |
| Limb dystonia 0.4151152442661143 0.8270021447551523 0.4082358458435342 1.0 0.7284021205821939 17 Q99720,Q9UGM6 2 |
| Congenital malformation of the right heart 0.5099963026274834 0.8217743961080655 0.4112053084287532 1.0 0.7313386571020742 7 O15460 1 |
| Epistaxis 0.4258773574079322 0.8212958839889237 0.4114777516388361 1.0 0.7313386571020742 15 P35579,P49257,P10644,P01889,P04062,Q14980,O15460,P38435 8 |
| Abnormal libido 0.4514854996971246 0.8206078656955053 0.4118696658933474 1.0 0.7317513800400612 4 O00170,Q8WWQ0 2 |
| Aplasia hypoplasia involving the vertebral column 0.4255920669810606 0.8196086069719372 0.4124392654613931 1.0 0.7324793466450011 15 Q14739,Q6NUQ1,O95831,P10644,Q7RTS9 5 |
| Mediastinal lymphadenopathy 0.5168413234428135 0.8170390088863076 0.4139061358279807 1.0 0.7339465612863033 6 Q9H0U3 1 |
| Urinary urgency 0.5000814214673541 0.8155422536937861 0.4147619885073932 1.0 0.734943177014331 8 O75298,Q96GW9,Q8WVX9 3 |
| Mesomelia 0.5158392685997236 0.8126325737123924 0.4164287499253336 1.0 0.7364247518942025 6 Q9UBM7 1 |
| Trismus 0.4498023178816517 0.812317413944039 0.4166095208372353 1.0 0.7364601946281684 4 Q15427 1 |
| Chronic hepatic failure 0.4496120278551894 0.8113810097275859 0.4171469012793372 1.0 0.7368891019405462 4 Q10713 1 |
| Polycystic kidney dysplasia 0.4381031017047569 0.8112303468724286 0.4172334013117305 1.0 0.7368891019405462 14 Q16134 1 |
| Abnormal cervical spine morphology 0.5151841724588756 0.8097539474146492 0.4180816055550818 1.0 0.7378439945929349 6 O14802,Q8NCH0 2 |
| Functional abnormality of the inner ear 0.2537863481300312 0.8095523910958642 0.4181974801304784 1.0 0.7378439945929349 262 P78527,Q15043,Q9UG56,O75306,P10644,O43676,Q86Y39,P51572,P07196,P27635,Q9Y276,Q96DA6,Q93008,Q5JRA6,P41440,Q9H5K3,Q9Y4A5,O95831,Q10469,Q8N2K0,P03886,Q9NQH7,P42167,P33527,Q2TAA5,P12235,Q8NI27,P03915,Q9NZ08,Q8N183,O95470,P40855,Q8WVX9,O96011,Q96RR1,O43681,O75844,Q15067,O60885,Q6KC79,P29084,P18074,Q12948,O95202,O15269,P53597,P00403,Q9UBM7,P35222,P21359,O43395,Q9NZJ7,P26358,O43709,Q9H061,Q8NBM4,Q96GW9,O15460,Q9Y375,P62857 60 |
| Truncal obesity 0.4154247320123814 0.8060785507148654 0.4201975583212043 1.0 0.7405173893183685 16 P10644,Q10713,Q8NI27,O60885,Q6KC79,Q06787 6 |
| Aplasia hypoplasia of metatarsal bones 0.5056355454291186 0.802083989184787 0.4225043758616702 1.0 0.7432456678041859 7 Q7RTS9 1 |
| Chronic oral candidiasis 0.4041953663118385 0.801435713632422 0.4228794467533308 1.0 0.7432456678041859 3 O75083,O00203 2 |
| Abnormal circulating bilirubin concentration 0.3701327588710074 0.8007871142801356 0.4232549000501657 1.0 0.7432456678041859 28 Q86SX6,P36551,Q14739,O75648,P41440,P00390,O75845,P23786,O14936,P40855,P28288 11 |
| Nasogastric tube feeding in infancy 0.4843074703780965 0.7997335370864129 0.4238651977315721 1.0 0.7432456678041859 10 P49711,Q9NZJ7 2 |
| Hypomimic face 0.4615691021369761 0.7995017039094655 0.4239995590429901 1.0 0.7432456678041859 12 Q15043,Q96RR1,P12235 3 |
| Pedal edema 0.4963833797577544 0.7983798486411318 0.4246500936712269 1.0 0.743786975994481 8 P04062,Q12756,P10644 3 |
| Scapular winging 0.3858318157355783 0.7964959968120329 0.4257438013883385 1.0 0.7451329633160303 23 O75340,Q8WXH0,Q9BTV4,Q9Y223,Q9H3H5,P50402,O75147,P07196 8 |
| Distal sensory impairment of all modalities 0.4786996781364113 0.7954863043357115 0.4263306745752 1.0 0.7452493249553804 5 O95140,O15269,O15270 3 |
| Nausea and vomiting 0.2685481061293345 0.7946660471409975 0.4268077876503415 1.0 0.7452493249553804 146 O75306,Q86Y39,O43676,Q16134,Q15165,P03886,Q2TAA5,P03915,Q9NZ08,Q8N183,P39210,Q9Y6B6,Q13423,P11310,P00403,Q9UBM7,P60866,Q9NZJ7,Q8NBM4,P23786,Q9Y375 21 |
| Ulnar deviation of the hand 0.4784163302686709 0.794174980070195 0.4270935719663 1.0 0.7452493249553804 5 Q14739 1 |
| Abnormality of the nasal tip 0.2841451336062815 0.7931626928946133 0.4276830403584548 1.0 0.7456787256173668 94 Q13409,P10644,P36543,P49711,O75147,Q06787,Q969G3,Q93008,O95831,Q03164,O75844,O43292,P16435,P21964,Q8ND04,Q8NFG4,P35222,Q96N67,O75845,P23786 20 |
| Clonic seizure 0.511039744817674 0.7915819899664448 0.4286044517016125 1.0 0.7464331424161113 6 Q9H936,O14936,Q9NZJ7 3 |
| Aplasia hypoplasia of the phalanges of the thumb 0.4712295690472262 0.7892485695180774 0.4299667396479185 1.0 0.747952771855263 11 O75962,Q6KC79,O60885,Q9UQE7 4 |
| Vocal cord paresis 0.4770854915781133 0.7880208897968997 0.4306844869186919 1.0 0.7484722371936788 5 O95140,Q8TB36 2 |
| Broad foot 0.4818074781345571 0.7876008316307614 0.4309302280968929 1.0 0.7484722371936788 10 P27635,Q8IWS0,O95831,Q7RTS9,Q15022 5 |
| Young adult onset 0.459280838551048 0.7875845483532055 0.4309397557287098 1.0 0.7484722371936788 12 Q9H269,Q9H0U3,Q9NZJ7 3 |
| Opisthotonus 0.3809422524779974 0.7873712948298522 0.4310645453907822 1.0 0.7484722371936788 24 Q99720,Q2TAA5 2 |
| Abnormality of the biliary system 0.2670333596176944 0.787062189583898 0.4312454618488242 1.0 0.7484722371936788 118 P36551,P55265,P22830,Q96A33,P10644,Q13363,P00374,P49711,P50542,P28288,P04637,Q16134,P40939,Q9Y276,Q93008,P09601,Q6NUQ1,Q8WWI5,Q9NSD9,Q10713,Q9H3H5,P40855,Q86SX6,Q14739,O96011,P39210,O75648,O43681,Q9Y5U9,Q9Y223,P21964,Q9UIG0,O95202,O14936,Q9UJW0,Q9UBM7,Q9NZJ7,O75845,O43709,P04062 40 |
| Deformed sella turcica 0.5096146284316467 0.7853495867638097 0.4322486299383115 1.0 0.7487951691407725 6 Q7RTS9 1 |
| Basal ganglia gliosis 0.4812016764710575 0.784665572243122 0.4326496732121958 1.0 0.7492066525541502 10 P37198,O43819,O75306,Q99986 4 |
| Myotonia 0.50166732459361 0.7842355511739002 0.4329019082917855 1.0 0.7492176119992326 7 Q9BTV4,P50402 2 |
| Paraplegia 0.317249370853967 0.7805215911848701 0.4350839238114368 1.0 0.7518038953041429 56 O75298,Q7KZN9,Q12756,Q9BRK0,P49902,O95831,O75306,Q8N183,Q96DP5 9 |
| Difficulty running 0.4324463591609364 0.7793422707117275 0.435778120544634 1.0 0.7524938018836442 14 O75340,P07196,Q9H3H5,Q9BPX6 4 |
| Abnormality of blood circulation 0.2946145759953918 0.7783807584067579 0.4363445787865863 1.0 0.7527601129518594 68 Q14739,Q969G3,P60866,P35222,O75844,P38435,P21359,O75533,P49257,P10644,P36543,Q8NBM4,P21964,P23786,Q9NZ08,P49711,P16930 17 |
| Cogwheel rigidity 0.5002203949900302 0.7777448105690906 0.4367194694188487 1.0 0.7531233002924972 7 P37198,Q96RR1,P12235 3 |
| Cerebral calcification 0.3552746672333696 0.776476357054405 0.4374677753726868 1.0 0.7538691263220755 32 P03915,O75845,P03886 3 |
| Hereditary nonpolyposis colorectal carcinoma 0.4911482587011466 0.7741900577271573 0.4388184068787553 1.0 0.7552073472126593 8 Q8NFG4,P35222 2 |
| Abnormal enzyme coenzyme activity 0.2694046408699613 0.7737448274438353 0.4390817051450293 1.0 0.7552073472126593 193 Q8N511,Q92643,O43772,O75880,Q6NUQ1,P41440,Q9H5K3,Q10469,P03886,Q10713,Q2TAA5,P12235,P03915,P40855,Q86SX6,P39210,Q96AY3,Q9Y5U9,Q9Y6B6,O43505,O75340,Q9UGM6,O14678,Q9NZJ7,O75845,P23786,P11310,P62857 28 |
| Abnormality of hindbrain morphology 0.2420800821366702 0.7713489441087966 0.4405001288570476 1.0 0.756227647217307 281 P78527,Q15043,Q9H6K4,Q99720,Q92643,P51572,Q6DKK2,P00374,Q99986,Q06787,P27635,Q9Y276,Q969G3,Q9Y320,Q93008,P41440,Q9H5K3,O15020,Q10713,Q8NI27,P12235,O95453,Q96RR1,Q15233,Q9Y5U9,Q9H936,O43292,P16435,Q8NI60,Q92917,Q6KC79,P29084,Q12948,O43505,O60885,Q14671,O95202,Q12756,Q9UBM7,Q96N67,P46977,O75845,O43709,Q8IV08,Q9NVI7,Q8TCJ2,Q5JTZ9,P18887,P23786,Q9UGM6,P13073,Q96J42 52 |
| Spastic ataxia 0.5060925045977179 0.7699837739557593 0.4413095178646595 1.0 0.7573334123055693 6 Q86SX6 1 |
| Abnormal aldolase level 0.4409953740295632 0.7691741283217618 0.4417899468471256 1.0 0.7578740308699099 4 Q9H5K3 1 |
| Accelerated skeletal maturation 0.4668403494944604 0.7672771054438361 0.4429167775873266 1.0 0.7588673138935506 11 O00170,Q15022,P10644,Q03164 4 |
| Carcinoma 0.4723134150702084 0.7660236599425835 0.4436622243015717 1.0 0.759380019331267 5 P43246,P51532,O60832 3 |
| Airway obstruction 0.429997524617588 0.7656053140283557 0.443911181594248 1.0 0.759522417499942 14 O75844,P09601,P21964,P16435 4 |
| Abnormal placenta morphology 0.4887398676587972 0.7631059477761151 0.4454002131923924 1.0 0.7611685198624204 8 O75844 1 |
| Epidermal acanthosis 0.488591410942051 0.7624236566569499 0.4458071915445409 1.0 0.7611685198624204 8 P16615,Q06136 2 |
| Cholestasis 0.2855388343024077 0.7615027920570807 0.4463568118389958 1.0 0.7611685198624204 77 Q16134,O96011,Q9UBM7,Q6NUQ1,Q9Y5U9,O75845,P00374,P49711 8 |
| Paraplegia paraparesis 0.2844341799042436 0.7614114813748687 0.4464113318573601 1.0 0.7611685198624204 86 O75298,Q7KZN9,Q12756,Q9BRK0,P49902,O95831,O75306,Q9H6K4,P29084,Q6DKK2,Q8N183,Q96DP5 12 |
| Bilateral ptosis 0.4156269895347333 0.7610315315062094 0.4466382340087325 1.0 0.7611685198624204 15 Q9Y5P4,O75306,Q16854,Q15149,O60313,P21281,O43819 7 |
| Hyperactive patellar reflex 0.488265700429839 0.7609271180331908 0.4467006001549647 1.0 0.7611685198624204 8 Q15041,Q15233 2 |
| Distal muscle weakness 0.2953495369257101 0.7575032875934801 0.4487483970180357 1.0 0.7638057782825556 67 O75340,P41440,O95831,Q99720,P18887,O15269 6 |
| Neoplasm of the male external genitalia 0.4873714610246809 0.7568211528031251 0.4491570182335 1.0 0.7639337258893457 8 P04637,Q13423,P10644 3 |
| Astrocytoma 0.4806280625905531 0.7519195688514582 0.4520994292050806 1.0 0.7677982152029946 9 P04637,P21359,P48735,P20585 4 |
| Talipes calcaneovalgus 0.4685298193465481 0.748664650681866 0.4540593547100768 1.0 0.7694214977817461 5 Q9UBM7,P07196 2 |
| Vestibular dysfunction 0.3518409955239285 0.7485837850769335 0.454108108264974 1.0 0.7694214977817461 32 Q96RR1,P35222,Q15043,P41440,P21359,Q8NBM4,O15460,Q9NZ08 8 |
| Muscle fiber inclusion bodies 0.4628255656595197 0.7472779362303243 0.4548958079409573 1.0 0.7702633377625523 11 O75340,O43676,Q9Y223,Q9H3H5,P07196 5 |
| Central adrenal insufficiency 0.467340329991554 0.7432229985820749 0.45734668152057 1.0 0.7735557381791258 5 P35222 1 |
| Abnormal external genitalia 0.2329530190915953 0.7412870272023399 0.458519425788733 1.0 0.7749671740922076 294 Q06136,P78527,Q07020,P42345,P10644,P29372,P36543,Q8NCH0,P49711,O75147,Q06787,P04637,P27635,P18077,Q9BUB7,Q96DA6,Q15392,Q969G3,Q93008,Q9H5K3,Q9Y4A5,Q10713,Q8NI27,Q15022,Q9NZ08,O95470,P40855,O95453,Q8IWS0,O96011,Q15233,O75844,Q9Y5U9,Q9H936,Q86XL3,P16435,Q13423,P21964,O60885,Q6KC79,P29084,P18074,Q9UBX3,P22570,Q8ND04,Q12948,O43505,O95202,O15111,P48449,Q9UBM7,P60866,P21359,O14678,P46977,O75845,O43709,Q9NVI7,Q8TCJ2,Q8NBM4,O43395,P62857,Q96J42 63 |
| Abnormality of earlobe 0.3643383247306868 0.739845966187613 0.4593934640722144 1.0 0.7761581314081439 27 Q8IWS0,Q15392,Q96N67,P16435,Q10469,P21964,Q8TC12 7 |
| Abnormal ureter morphology 0.3701782511802822 0.7380028584538296 0.4605127121180452 1.0 0.7770961183724856 25 O75844,Q9H936,P23786 3 |
| Temperature instability 0.4832023869288021 0.737733925111278 0.4606761523412008 1.0 0.7770961183724856 8 Q2TAA5 1 |
| Nonprogressive 0.4912515784454146 0.7377336959187217 0.4606762916433859 1.0 0.7770961183724856 7 Q9Y399,Q9ULM3,Q10713 3 |
| Decreased adipose tissue 0.4115449161754578 0.7372567528360813 0.4609662264811034 1.0 0.7770961183724856 15 O14802,O75844,P19447,Q6NUK1,P36543,P29084,P18074 7 |
| Abnormality of the ankles 0.3233976136172641 0.7358509477594978 0.4618214118476311 1.0 0.7780621180676166 47 O75298,Q12756,Q15233,Q15043,O75844,P49902,Q96AY3,Q9NZJ7,O43709,Q7RTS9 10 |
| Bicornuate uterus 0.490743154029321 0.7354776055090124 0.4620486737804419 1.0 0.7780621180676166 7 Q9UBM7 1 |
| Cardiac conduction abnormality 0.3463995389328966 0.7326008712961616 0.463801899541933 1.0 0.7801542965128991 33 O43772,P00403,O75306,P03886,P23786,P03915 6 |
| Motor seizure 0.2726585167730474 0.7317876883751077 0.4642981647523512 1.0 0.7804160641582074 107 Q9Y6N5,Q12756,O75340,O14653,Q9Y320,Q9Y5U9,Q9H936,O43292,Q96N67,Q10469,P03886,Q9NZJ7,Q8WWV3,P03915,Q9UBX3,P13073 16 |
| Hypoproteinemia 0.3908745561558079 0.7304634958284 0.4651069184772765 1.0 0.7809539808677217 3 Q9H3H5 1 |
| Poor fine motor coordination 0.4968998504281387 0.7301476309796777 0.4652999493166478 1.0 0.7809539808677217 6 O95140,Q06787,Q8TC12 3 |
| Abnormality of metacarpophalangeal joint 0.4643462739960639 0.7295603887581558 0.4656589422056978 1.0 0.7810886922036198 5 Q15233 1 |
| Micropenis 0.308284903371653 0.7277721316483028 0.4667530867166132 1.0 0.7816749427395914 59 P48449,P78527,Q9UBM7,Q9H936,P16435,P46977,Q9NVI7,Q10713,Q8TCJ2,O43505,O95470 11 |
| Gynecomastia 0.3909484487231359 0.7270242215004048 0.4672111179744633 1.0 0.7818704684291421 19 O14802,Q8IWS0,Q8IY37,Q8NI60,O00170,Q06787 6 |
| Urethral stricture 0.3492957746478969 0.7258952756256676 0.4679029729503576 1.0 0.7825947364604868 2 Q15149 1 |
| Lumbar hyperlordosis 0.3906367080727456 0.7250481104932118 0.4684225160037103 1.0 0.7830397549540317 19 Q7RTS9,Q9H5K3,O75340 3 |
| Decreased fertility 0.3720681211044149 0.7246356259982084 0.4686755969527441 1.0 0.7831770916256285 24 Q8WWQ0,P19447,P16435,Q8IY37,O00170,Q96RD7,Q02750,O75147,Q96L73 9 |
| Abnormality of the clitoris 0.390471521245476 0.7240014084669527 0.4690648703770721 1.0 0.7835418286794547 19 Q9UBM7,O96011,P40855 3 |
| Gonadal neoplasm 0.3716989635074135 0.7220460757418448 0.470266149922216 1.0 0.7839832368988812 24 P04637,P35222,P10644,Q8IY37,P48735,Q92878,Q13423,P20585 8 |
| Incomplete penetrance 0.3450950042953396 0.7219003891413774 0.4703557220067709 1.0 0.7839832368988812 33 Q969G3,Q8NFG4,P03886,P03915,Q14671,Q06787,O95453 7 |
| Abnormality of epiphysis morphology 0.3143003187428602 0.7171058405955243 0.4733087921984982 1.0 0.7880453800339822 53 P40855,O95202,Q14739,O96011,Q12756,Q9UBM7,Q6NUQ1,Q5JRA6,Q9UG56,O95831,P10644,P16435,Q7RTS9,Q13363,P38435,O00116,Q7Z2Z2 17 |
| Pulmonary hemorrhage 0.4859412297619837 0.7142376973005712 0.4750802101432008 1.0 0.7895602186710722 7 P49711 1 |
| Cyanosis 0.3929193969564954 0.7135962699460957 0.4754768647300378 1.0 0.789646608986239 18 O43772 1 |
| Abnormality of thyroid physiology 0.2813098273994798 0.7091879401672155 0.4782078563298446 1.0 0.7936068082953089 81 O14802,P55265,Q8WWQ0,P10644,Q06787,P27635,Q9H1A4,Q96DA6,Q969G3,Q93008,P03886,O00170,P12235,P03915,O95470,P00813,Q96RR1,Q13423,Q9Y223,Q9UIG0,P21964,P23458,P00403,Q8NFG4,P35222,O43709 26 |
| Bradykinesia 0.3579770205434059 0.7085344040495146 0.4786134550745942 1.0 0.7939923429224441 28 P31930,Q96RR1,Q96IX5,Q15043,P04062,Q709C8,P12235,Q6DKK2,O75569,Q06787 10 |
| Abnormal anterior eye segment morphology 0.2348133371506803 0.7070022971787528 0.4795650502289639 1.0 0.794707797522283 314 O14802,Q06136,Q07020,P00390,P10644,Q9H6K4,Q8NCH0,Q8WWV3,P49711,Q16134,P18077,Q9Y276,Q13126,Q93008,Q9BUB7,Q9H5K3,P61586,P03886,Q8N2K0,Q10713,Q2TAA5,P12235,P03915,Q9NZ08,P40855,O95453,Q8TC12,Q8WVX9,Q8IWS0,O96011,Q96RR1,Q14739,P39210,Q15800,O75844,P34913,Q9Y287,P21964,O60885,Q6KC79,P29084,Q8ND04,Q12948,O43505,O95202,O15111,P18074,P22570,P00403,P48449,O75340,Q12756,Q9UBM7,P60866,P35222,P21359,O75533,P10619,P51648,O75845,O43709,P26358,Q9NVI7,Q8NBM4,P04062,P23786,O43395,P62857,Q96J42 69 |
| Bladder neoplasm 0.4759387736419777 0.704710231018067 0.4809905830724628 1.0 0.795455732186364 8 Q8NFG4,P35222 2 |
| Neonatal death 0.419022554988151 0.7046018980321603 0.481058016998781 1.0 0.795455732186364 14 Q16134,Q9NVI7,Q14739,P53597 4 |
| Athetosis 0.4054445746893166 0.7019968950834625 0.4826810997779036 1.0 0.7975639376784545 15 O14949,Q9UGM6,Q96RR1,Q96CU9 4 |
| Abnormal muscle glycogen content 0.4269914726249614 0.7015033626130295 0.4829889368552795 1.0 0.7976459997583778 4 P13807 1 |
| Limb muscle weakness 0.2800746479743634 0.7002271117554544 0.4837854826430445 1.0 0.7982373357833742 85 P36551,P55265,P37198,Q99720,Q9BTV4,Q7RTS9,Q9NR77,Q92734,Q15046,P07196,Q13126,Q969G3,P05023,Q9BQT8,P12235,P50402,Q14739,Q96RR1,P39210,Q15067,Q8WXH0,Q9Y223,O43819,O15269,O75298,Q12756,P21359,Q8TB36,Q969X5 29 |
| Decreased circulating antibody level 0.320005702525841 0.6933364994168587 0.4880984025261039 1.0 0.8033286208242126 44 P29084,P09601,Q10469 3 |
| Red eye 0.3811065250107579 0.6925130933505637 0.4886151662325977 1.0 0.8034658135523928 20 P29084,Q9NZ08,Q14739,Q8NBM4 4 |
| Hemiplegia hemiparesis 0.3373709709843703 0.6920664007310702 0.4888956306329741 1.0 0.8034658135523928 35 P00403,P60866,P42345,P03886,Q8NBM4,P03915,Q9NZ08 7 |
| Microcornea 0.3414200096021572 0.6919183985657033 0.488988575715737 1.0 0.8034658135523928 33 Q9H5K3,Q8NCH0,O75845,Q6KC79,P29084,P49711,Q96J42 7 |
| Atrial arrhythmia 0.4515438771807837 0.6916349661332638 0.4891665973204473 1.0 0.8034658135523928 11 Q96RR1,P50402,P12235 3 |
| Abnormality of the umbilical cord 0.486820192864403 0.6869631748151777 0.4921059346087078 1.0 0.8070255520318894 6 O75844 1 |
| Abnormality of the cerebrospinal fluid 0.2625178298626723 0.6863915899519258 0.492466206388598 1.0 0.8073274267164782 147 O14802,Q96CU9,O75306,P10644,O43676,Q86Y39,Q9UI09,Q00839,P04637,Q7KZN9,Q969G3,Q15392,Q9H5K3,O95831,P03886,Q10713,P03915,Q8N183,P40855,Q15427,P39210,O43681,P16435,Q8NI60,Q9P0J0,Q96J42,P21964,P30038,O95202,P18074,O43505,O43819,P53597,Q9NRZ9,Q12756,P00403,Q9UBM7,P35222,P21359,Q9NZJ7,P26358,P04062,P23786,Q9Y375,P13073,Q96DP5 46 |
| Impaired social interactions 0.3126924664678903 0.6838975888649343 0.4940398366817224 1.0 0.8081722712158702 52 Q96RR1,Q8NFG4,Q15067,Q96CU9,O75306,Q86Y39,O43676,P03886,P21359,Q9P0J0,Q96N67,Q2TAA5,Q9Y375,O95298,Q8N183,Q06787 16 |
| Pain insensitivity 0.4539201864818469 0.6823975382627614 0.494987611956144 1.0 0.8091449297121127 5 O15269 1 |
| Cough 0.3562718892811227 0.6801863153731379 0.496386496129257 1.0 0.8105641216194782 27 P35610,P41440,P10644,Q92734,O15460,O15269,O95453 7 |
| Agnosia 0.477986790097099 0.679341990062874 0.4969211966622446 1.0 0.8111481735327414 7 P60866 1 |
| Abnormality of lipoprotein cholesterol concentration 0.4012333378896749 0.6778608243275244 0.4978599411947693 1.0 0.8121177567647753 15 Q8N511,P34913,Q15800 3 |
| Unusual infection by anatomical site 0.4141501695503866 0.677845498785186 0.4978696592650051 1.0 0.8121177567647753 14 Q14739,Q9BUB7,Q8NBM4,O15460,Q9NZ08 5 |
| Psychosis 0.342759413707882 0.6757358032816757 0.4992083999437873 1.0 0.8140117041076275 32 P00403,P36551,Q96RR1,P10644,P03886,Q9Y287,O00170,P26358,P30038,P03915,Q6DKK2,Q8WVX9 12 |
| Ptosis 0.2593339022630341 0.6753273174081851 0.4994678319192633 1.0 0.8141381303530453 230 P55265,P26640,P62070,Q07020,O95319,Q8WWQ0,Q96CU9,O75306,Q86Y39,O43676,Q9BTV4,Q9UI09,Q4J6C6,Q13363,P50542,P07196,P18077,Q7KZN9,Q969G3,P51530,Q8TAQ2,P03886,O00170,Q10713,P12235,Q9BPU6,Q8N183,O95470,P50402,P40855,Q8WVX9,Q8IWS0,O75489,Q15427,O96011,Q96RR1,Q14004,O75648,Q03164,Q9Y5U9,O75962,Q86XL3,Q8WXH0,Q9P0J0,P21964,O60885,Q6KC79,O95202,O43819,Q14671,P53597,O95299,P51532,O75340,Q02750,Q9UBM7,P60866,P21359,Q8IY37,O75845,Q9NZJ7,Q9BPX6,P04062,P61981,O15460,Q9Y375,P62857,Q96DP5 68 |
| Poor eye contact 0.3178203704654921 0.6718072452053128 0.5017064157010822 1.0 0.8160521110196516 43 Q8NFG4,O75306,Q86Y39,O43676,P03886,Q96N67,Q9Y375,O95298,Q8N183,Q06787 10 |
| Abnormal circulating amino acid concentration 0.3088181949154213 0.6698835533286882 0.5029320248438793 1.0 0.8171753680264734 54 O75880,P41440,P03886,P03915,O95298,Q86SX6 6 |
| Proximal amyotrophy 0.4242651609046856 0.6668081404125137 0.5048946923445872 1.0 0.8194925541349267 13 Q9BTV4,P50402,Q92734,P07196 4 |
| Sloping forehead 0.3171352865824582 0.6664051741044547 0.5051521562099235 1.0 0.8196201061451379 44 Q9H936,Q86XL3,O75845,Q92917,P23786,Q96J42 6 |
| Inflammatory abnormality of the eye 0.3202477706784676 0.6638090361997988 0.506812541502673 1.0 0.8208803758508869 40 Q14739,Q15800,O75533,P18074,Q8NBM4,O60885,Q6KC79,P29084,Q9NZ08,O95453 10 |
| Germ cell neoplasia 0.4667126523778436 0.6632304621235464 0.5071829646516501 1.0 0.8208803758508869 8 P04637,P20585,Q8IY37,P35222 4 |
| Decreased activity of mitochondrial complex iii 0.4807747003794285 0.6613401820098954 0.5083941780506649 1.0 0.8219696978927828 6 Q5JPH6,P53597 2 |
| Aplasia hypoplasia involving the metacarpal bones 0.3535073148127339 0.6599684314897801 0.5092740879382514 1.0 0.8228116611188533 27 Q32P28,O75962,P10644,P16435,Q7RTS9,Q9NX62,O60885,Q6KC79 8 |
| Coarctation of aorta 0.3195237282231247 0.6573052061637532 0.5109846896166248 1.0 0.8249936038842054 40 P18077,P60866,Q07020,Q9UBM7,P21359,Q9Y4A5,O14678,P62857,P49711 9 |
| Variable expressivity 0.2769412200060787 0.6569151910052007 0.5112354498767278 1.0 0.8251077250211929 84 Q12756,Q70HW3,Q9NZJ7,P03886,Q9H061,Q6P4A7,P03915,P00374,O95470 9 |
| Cerebral edema 0.459641360062678 0.6548008169454803 0.5125960045932214 1.0 0.8261396036039889 9 P23786 1 |
| Lower limb amyotrophy 0.3791689322218114 0.6531092029718565 0.5136858796782326 1.0 0.8266831341168294 19 O75298,Q12756,Q9NVI7,Q92734,P07196 5 |
| Abnormal hair laboratory examination 0.4644245643865867 0.653031215206536 0.513736154794975 1.0 0.8266831341168294 8 P29084,Q9Y276 2 |
| Wide cranial sutures 0.4717413463023015 0.6522176159205302 0.5142607974033291 1.0 0.8266831341168294 7 O14802,O75844 2 |
| Abnormal reflex 0.2418873672720004 0.6514438561880312 0.5147600081681896 1.0 0.8268166048805518 371 O14773,P37198,Q99720,Q9UI09,P07196,Q9BRK0,P41440,P03886,Q8N2K0,O15020,O14949,P03915,Q8WVX9,O96011,Q14739,Q9Y5U9,Q15067,Q9P0J0,Q9Y223,P30038,P29084,P18074,O43819,P53597,O75298,O75340,P26358,P04062,P18887,P11310,Q96DP5,O14802,Q00535,O14653,O95319,Q96CU9,Q9BTV4,Q709C8,Q6DKK2,Q7KZN9,Q9H5K3,O95831,Q2TAA5,Q9NZ08,Q8N183,Q86SX6,Q96AY3,Q9H936,Q86XL3,Q9Y6B6,O15269,Q12756,Q8TB36,Q9NZJ7,Q8NBM4,Q9UGM6,Q13409,P49902,O75306,Q9H6K4,Q7RTS9,Q92734,Q96IX5,Q9Y320,Q10713,P12235,P40855,Q15233,P39210,O43681,O43292,O43505,O43709,Q15041,P13073,Q15043,Q99986,Q06787,Q9Y276,Q93008,P05023,Q00534,P50402,O95453,Q96RR1,Q8NI60,P35610,Q96GW9,Q969X5,P61981,O43395 91 |
| Abnormal ldl cholesterol concentration 0.4092259367787081 0.6510321270956997 0.5150257482706149 1.0 0.8268166048805518 14 Q8N511,P34913,Q15800 3 |
| Ichthyosis 0.3274570483861447 0.64948000411298 0.5160281669650053 1.0 0.8269826806941499 37 O96011,P48449,Q6P1M0,Q15800,O95470,P51648,Q8WXH0,Q9BTV4,P04062,P29084,P18074,Q02750,P50402,P50542,P40855,Q7Z2Z2 16 |
| Tachycardia 0.3536058291061403 0.6477918382577244 0.5171195949821523 1.0 0.827900471077504 26 O43772 1 |
| Abnormality of the tarsal bones 0.3450171080698274 0.6477790313343411 0.5171278794430294 1.0 0.827900471077504 30 Q14739,O75844,P16435,Q7RTS9,Q969X5,P18074,O75147 7 |
| Generalized tonic seizure 0.3853736749259411 0.6458821238339395 0.5183556974192207 1.0 0.8287610648360678 17 P27635,Q12756,Q96JM3,Q9H936,Q96N67,O14936 6 |
| Brisk reflexes 0.363851315910355 0.6455613055712917 0.5185635034668281 1.0 0.8287610648360678 23 Q99720 1 |
| Eclabion 0.3386044102465334 0.642911307704954 0.5202816516989619 1.0 0.8304134914254057 32 P27635,Q15056,Q96JM3,Q6NUK1,Q96N67,Q10469,P18074,O43709,Q96PZ0,P04062,Q9UIG0,Q12948,Q7L2E3,O75147 14 |
| Visual impairment 0.2334970587649101 0.6428485487404845 0.5203223775387036 1.0 0.8304134914254057 287 O14773,Q13432,P04637,Q9Y4A5,P03886,Q6P4A7,P03915,Q8IWS0,O96011,Q14139,P18074,P22570,O43819,P48449,O75340,Q96JM3,O75533,Q9H061,Q96DP5,P49914,Q96CU9,O43676,Q96S66,Q8WWV3,P50542,Q8TAQ2,Q9H5K3,O95831,O00170,Q92620,Q9BPU6,Q9NZ08,Q8N183,Q86SX6,O75489,O00764,O75648,Q9Y6B6,Q9UIG0,Q12948,O14936,P30533,Q12756,P51532,Q8IY37,Q9NZJ7,Q8NBM4,O15460,Q9Y375,Q9UGM6,P62070,Q96TA2,Q8WWQ0,Q96A33,O75306,Q86Y39,Q9H6K4,Q92734,Q10713,P12235,P40855,O43681,O75962,O43292,Q9Y287,O43505,P00403,P60866,Q96N67,O43709,P78527,Q15043,Q969G3,P61586,Q8NI27,Q8TC12,Q96RR1,Q5MNZ6,P35222,P21359,O43395 81 |
| Hypoventilation 0.430523870363209 0.6408384384791791 0.5216276562503945 1.0 0.8313530692349276 12 Q8N183,O75306 2 |
| Abnormality of the upper respiratory tract 0.2714974290208225 0.6405450745436334 0.5218182948755241 1.0 0.8313530692349276 98 P10644,Q13432,P36543,P29372,Q7RTS9,Q06787,P04637,P27635,Q969G3,Q93008,Q15165,Q10469,O95453,Q15427,P16435,P21964,Q9H0U3,Q9UBM7,P21359,Q9NZJ7,O15460,Q7Z2Z2 22 |
| Increased intracranial pressure 0.3807154622806835 0.638938340807297 0.5228630444767721 1.0 0.8321968537049861 18 Q969G3,P60866,P35222,Q9NZJ7,Q8NBM4,Q9NZ08 6 |
| Abnormal urine alpha ketoglutarate concentration 0.4680663761279549 0.6363784726357723 0.5245297686467749 1.0 0.8342226310099002 7 P00367,P21912,P30038,P21281,Q02218 5 |
| Extra axial cerebrospinal fluid accumulation 0.3333333333333432 0.6344516774743063 0.525786093255276 1.0 0.8352071764000377 2 Q03252 1 |
| Abnormality of the columella 0.3761294061011285 0.6343109124865338 0.5258779362536248 1.0 0.8352071764000377 19 P35222,O75962,Q10469,P49711,Q8TC12 5 |
| Abnormal pleura morphology 0.3554890639162452 0.6339209658173172 0.5261324022240603 1.0 0.8353217834340417 25 Q8NFG4,Q8NCH0,Q8NBM4,Q92917,Q9NZ08 5 |
| Short phalanx of the thumb 0.4549481986297051 0.6334945228689821 0.5264107564456773 1.0 0.8354742244662602 9 Q9UQE7,O60885,Q6KC79 3 |
| Pulmonary insufficiency 0.4722979600762321 0.6258014095350841 0.531445207200564 1.0 0.8410827127180233 6 P00813,O95453 2 |
| Jaundice 0.2987290961967047 0.6252390133627248 0.5318142001019563 1.0 0.8410827127180233 59 Q16134,O96011,Q6NUQ1,Q9Y5U9,P00374,P49711,P40855,Q86SX6 8 |
| Very long chain fatty acid accumulation 0.4651974768249968 0.6240794300376019 0.5325754221186392 1.0 0.8417594288194566 7 O96011 1 |
| Scleral staphyloma 0.3700688791483941 0.6224814771594362 0.5336253197644911 1.0 0.8425469383738451 3 P40939,P36404 2 |
| Abnormality of the metacarpal bones 0.3186492589697975 0.6218756653745289 0.5340236274965209 1.0 0.842885381050313 39 O95202,Q14739,Q15233,Q9UBM7,Q32P28,O75962,P10644,P16435,Q7RTS9,Q9NX62,O60885,Q13363,Q6KC79 13 |
| Undetectable visual evoked potentials 0.3698138952790862 0.6211840665748953 0.5344785217427865 1.0 0.843040661831104 3 Q8TC12 1 |
| Prolonged partial thromboplastin time 0.4645159927928819 0.6211666384772526 0.534489987476944 1.0 0.843040661831104 7 P38435,P49257,Q9Y223,Q7Z2Z2 4 |
| Neoplasm of the thyroid gland 0.3646186110214371 0.6161573841127842 0.5377906517215456 1.0 0.8450469019849527 21 P04637,P51532,Q969G3,P60866,Q8NFG4,Q8TAQ2,P10644 7 |
| Proximal muscle weakness 0.2832020089312338 0.61406580321534 0.5391718446794915 1.0 0.8465773989030758 67 Q96RR1,O75340,Q13126,P51530,Q9H5K3,Q8TB36,Q8NI60,Q99720,Q92734,P12235,P11310,P50402 12 |
| Abnormal pattern of respiration 0.2615725170646365 0.6138431961928728 0.5393189496722126 1.0 0.8465773989030758 187 O75306,Q86Y39,Q92734,Q16134,O43772,Q7KZN9,O75880,P51530,Q15165,O95831,Q10469,P03886,Q10713,P12235,P03915,Q8N183,O75844,Q8NFG4,O14678,Q9NZJ7,Q8TCJ2,P23786,P11310,P62857,Q96DP5 25 |
| Simplified gyral pattern 0.3427827388871783 0.6123945599495123 0.5402767401867634 1.0 0.8476163565400392 29 Q969G3,P78527,Q13409,Q8TAQ2,Q9Y5U9,Q86XL3,Q9NXE4,Q00534,O14936 9 |
| Optic atrophy 0.2598684137373426 0.6115338338654737 0.5408462265603962 1.0 0.8476163565400392 200 O14802,O95319,Q15043,P49902,Q96CU9,O75306,P10644,Q86Y39,Q9H6K4,P37198,Q9UI09,Q92734,Q13363,P51572,Q7KZN9,Q96DA6,P41440,Q9H5K3,P61586,Q8N2K0,P03886,P03915,Q8N183,P40855,Q86SX6,O96011,Q96RR1,O43681,Q9Y5U9,Q15067,O43292,Q9P0J0,P21964,Q6KC79,O95202,P18074,P22570,O43819,O43505,P00403,Q9H9P8,Q12756,Q9UBM7,P35222,Q9NZJ7,Q9BPX6,P26358,Q9H061,Q8TCJ2,Q9NVI7,P61981,O15460,Q96J42,O43395,Q9UGM6,Q96DP5 56 |
| Rigidity 0.2959604591222831 0.6113192728472951 0.5409882343050638 1.0 0.8476163565400392 60 O95319,Q96CU9,Q9H6K4,P37198,Q709C8,Q06787,Q9BRK0,Q15392,P12235,Q96RR1,O43681,Q9Y287,O14936,Q9C0E8,P31930,Q9NZJ7,Q9BPX6,P04062,P61981 19 |
| Abnormal bone structure 0.261508214322005 0.6112893693425027 0.5410080274933291 1.0 0.8476163565400392 186 Q32P28,Q15043,Q9UG56,P10644,P48735,Q7RTS9,P49711,P16930,O00116,P27635,Q13126,Q15392,Q93008,Q5JRA6,O95831,Q10469,P12235,Q00534,P40855,O95453,O96011,Q96RR1,O75844,Q96AY3,Q9Y5U9,O43292,Q86XL3,O95202,P29084,P38435,Q12756,Q9UBM7,P35222,P21359,Q9NZJ7,O75845,O43709,Q9Y375,Q7Z2Z2 39 |
| Intestinal polyp 0.3825336213381813 0.611164389581781 0.5410907557572271 1.0 0.8476163565400392 16 P42345,Q8NFG4,P35222 3 |
| Perisylvian polymicrogyria 0.4074833016770955 0.6096006016948399 0.5421264129547909 1.0 0.8488169628170652 4 P42345 1 |
| Hypoplasia of teeth 0.3611466057329432 0.6092521742564516 0.5423573022560406 1.0 0.8488169628170652 22 O75844,P61586,P21359,P29084,P18074 5 |
| Upper motor neuron dysfunction 0.2408139270411805 0.6091682321165837 0.5424129347726685 1.0 0.8488169628170652 375 O14773,P36543,P37198,Q99720,Q9UI09,P07196,P04637,Q9BRK0,Q96DA6,Q15392,P41440,Q15165,P03886,Q8N2K0,O15020,Q15022,P03915,O95298,Q8WVX9,O96011,Q14139,Q15067,Q9P0J0,Q13423,P29084,P18074,Q9UBX3,P22570,O43819,O75298,Q9H9P8,Q96JM3,P51648,P26358,P04062,Q96DP5,O14802,P49914,O95319,Q96CU9,Q709C8,P51572,Q6DKK2,Q12955,Q7KZN9,Q9H5K3,O95831,Q2TAA5,Q9NZ08,Q8N183,Q86SX6,Q9H936,Q86XL3,Q14671,Q12756,Q9NZJ7,Q8NBM4,Q9UGM6,Q13409,P49902,O75306,Q9H6K4,Q7RTS9,Q92734,Q9Y320,Q10713,P40855,O43681,O43292,Q9Y287,O43505,P00403,P60866,O43709,Q5JTZ9,Q9NVI7,Q15041,Q15043,P42345,Q9Y276,Q969G3,Q93008,Q8NI27,Q8NI60,Q5MNZ6,P35610,P35222,P21359,Q96GW9,P61981 90 |
| Stenosis of the external auditory canal 0.4611043203988232 0.6066364075717552 0.54409223314476 1.0 0.8499867162001353 7 P16435,O95202 2 |
| Impaired oropharyngeal swallow response 0.3669380087664322 0.6065998587085311 0.5441164940435574 1.0 0.8499867162001353 3 O14908,Q9NR77 2 |
| Renal hypoplasia aplasia 0.2732449960708015 0.6065357095164882 0.5441590771624689 1.0 0.8499867162001353 82 P18077,Q15427,Q15392,Q07020,Q9UBM7,P60866,P21359,Q9Y4A5,P10644,Q86XL3,O75306,P16435,O43709,P21964,Q92917,Q6KC79,Q00534,P62857 18 |
| Babinski sign 0.2709455153526238 0.6063633998501311 0.5442734668989955 1.0 0.8499867162001353 93 Q15043,P49902,O14773,Q9H6K4,P37198,Q99720,Q92734,Q6DKK2,P07196,Q9BRK0,Q93008,P41440,O95831,Q8N2K0,Q86SX6,Q8WVX9,O43681,Q15067,O75298,Q12756,Q9NZJ7,P26358 22 |
| Weight loss 0.2730692797781659 0.6049065637455733 0.5452410816633395 1.0 0.851207712497929 74 P11310,Q06136,O75844,Q9NZJ7,Q99720,Q13423,Q8NBM4,Q9NZ08 8 |
| Autism 0.3105025502653963 0.6045411470954978 0.5454839213215477 1.0 0.8512967736700721 43 P27635,Q15233,Q8NFG4,Q9UBM7,O43709,P21964,Q9HCK8,O60885,Q6KC79,P61981,Q06787 11 |
| Dyskinesia 0.2751011993434998 0.6027870705798055 0.5466503491078498 1.0 0.8522293727545722 70 O95319,Q15043,O75306,Q9BTV4,Q96DA6,P03886,P03915,Q14139,Q9H936,Q9P0J0,Q9UBX3,O43819,Q12756,P60866,Q96JM3,P35610,Q9BPX6,P04062,P61981 19 |
| Abnormality of the dorsal column of the spinal cord 0.3661397201422932 0.6025678025041965 0.5467962450540835 1.0 0.8522293727545722 3 Q8WVX9 1 |
| Neoplasm of the skeletal system 0.3101302892505496 0.6015787184877169 0.5474545984051062 1.0 0.8525637662746978 42 P18077,Q13126,P60866,Q07020,P10644,P48735,P62857 7 |
| Hyperuricemia 0.4478031688792042 0.6013899796961498 0.5475802711090032 1.0 0.8525637662746978 9 P49257,P35610 2 |
| Retrognathia 0.272650985013559 0.5997873994700895 0.5486479319906203 1.0 0.8531605123824488 74 O14802,P27635,Q15427,Q9BUB7,Q15392,O75844,Q5JRA6,Q10469,Q8NCH0,P04062,Q2TAA5,Q4J6C6,Q15022,P29084,P18074 15 |
| Gastrointestinal hemorrhage 0.3408493893183985 0.5981386752871398 0.5497474060977092 1.0 0.8541684010646673 29 P60866,P35222,P49257,Q8NBM4,P21964,Q9NZ08,P16930 7 |
| Female sexual dysfunction 0.4518413673998433 0.5976320872042833 0.5500854491934168 1.0 0.8544039078658426 8 O75298,O00170,Q709C8 3 |
| Decreased absent ankle reflexes 0.3771188501822807 0.5973123140577936 0.5502988845391519 1.0 0.8544457773495066 17 Q96RR1,Q9H6K4,P12235,Q15041,P07196 5 |
| Congenital hepatic fibrosis 0.4344794924825964 0.5964540897419519 0.5508719152746779 1.0 0.8547562193662628 5 Q96J42 1 |
| Increased hepatic glycogen content 0.4040087691825965 0.5935747909943413 0.5527965459766111 1.0 0.8568720479245034 4 P36871,P31040,P31751 3 |
| Hypogonadotropic hypogonadism 0.3350526551105908 0.592678813733617 0.5533961227075466 1.0 0.8569387938702528 31 O14802,P00403,P62070,Q969G3,P35222,Q14781,Q8IY37,P03886,O43709,O00170,Q9UIG0,P03915 12 |
| Abnormality of circulating glucocorticoid level 0.4207189974933468 0.5923767924368594 0.5535983033525831 1.0 0.8569387938702528 12 P10644,Q13423,P16435,Q969G3 4 |
| Thyroid carcinoma 0.3981727889160381 0.591773058221954 0.5540025666283603 1.0 0.8569387938702528 14 P04637,Q969G3,Q8NFG4,Q8TAQ2,P10644 5 |
| Hyporeflexia 0.2501919773028718 0.5916335312845745 0.5540960150771528 1.0 0.8569387938702528 127 O95319,Q99720,Q06787,P07196,P41440,Q9H5K3,O95831,P05023,P03886,Q8N2K0,Q10713,P12235,P03915,O95453,Q96RR1,P39210,O43681,Q15067,P29084,P18074,O43505,O15269,Q12756,P35610,Q8TB36,Q9NZJ7,P26358,P04062,P61981 29 |
| Motor neuron atrophy 0.3555413592064267 0.5902519151014642 0.5550217715248646 1.0 0.857131701087607 23 Q99720 1 |
| Hyperpituitarism 0.3684029034314816 0.5871006346152672 0.5571361213891532 1.0 0.8586605140279515 19 O14802,Q969G3,P35222,Q14781,P10644,P16435,O00170,Q06787 8 |
| Gliosis 0.3083509605272455 0.5850768589296527 0.5584960380836059 1.0 0.8589739797552215 43 Q16134,Q7KZN9,Q9H9P8,O75306,P37198,Q10713,Q8NI27,Q92734,Q99986,O43819 10 |
| Oligodactyly 0.4482239809872834 0.5819394423921858 0.5606074717899319 1.0 0.8608614378237038 8 O60885,Q6KC79 2 |
| Hyperlipidemia 0.3407679161933456 0.5819047442499308 0.5606308447110284 1.0 0.8608614378237038 28 O75844,P22830,P49257,P23786,O95470 5 |
| Multiple prenatal fractures 0.461495578505177 0.5812398655648532 0.5610788029707487 1.0 0.8609141157367628 6 Q32P28,Q14739 2 |
| Abnormality of retinal pigmentation 0.2712140266836572 0.5801764681904479 0.5617956208185295 1.0 0.8614951588321628 81 O14802,Q96CU9,O75306,Q9UG56,Q13432,Q96S66,Q9UI09,P50542,Q7KZN9,P03886,Q92620,P03915,Q8N183,P40855,O96011,Q15067,Q9P0J0,P18074,P00403,Q8NFG4,P35222,P51648,O43395,Q96DP5 24 |
| Horseshoe kidney 0.3077237801602088 0.5794318762140257 0.5622978007971875 1.0 0.8615337683080664 43 P18077,Q969G3,P60866,Q07020,P16435,Q8NCH0,O75845,O15111,P62857 9 |
| Parkinsonism 0.3271547054250747 0.5781469806107107 0.5631648907748512 1.0 0.8618642383200963 33 P31930,Q96RR1,O96008,Q15043,Q9NZJ7,Q99720,P04062,Q709C8,Q06787 9 |
| Proximal muscle weakness in lower limbs 0.3667318073089536 0.5770060384367804 0.563935376376409 1.0 0.8622642983393435 19 P36551,Q96RR1,Q8WXH0,Q9BTV4,P12235,P50402,P07196 7 |
| Recurrent otitis media 0.3435821206341006 0.5769239127217147 0.5639908559849438 1.0 0.8622642983393435 26 Q9H0U3,Q13432 2 |
| Abnormal muscle fiber protein expression 0.460002468926756 0.5751499345540254 0.5651898991401074 1.0 0.8635212130243323 6 Q9BTV4,Q9H5K3,P50402 3 |
| Fatigable weakness of skeletal muscles 0.4532027140684881 0.5733318566404361 0.5664200196050346 1.0 0.8644104091407379 7 P11310 1 |
| Erythroid hyperplasia 0.3994262512723309 0.5726168620391062 0.5669041400925556 1.0 0.8644104091407379 4 Q86SX6 1 |
| Ecchymosis 0.4266617712614635 0.57244204976556 0.5670225350737645 1.0 0.8644104091407379 11 P38435,P04062,P10644,Q8NCH0 4 |
| Ankylosis 0.4288983395143224 0.5723388003033932 0.5670924683275989 1.0 0.8644104091407379 5 O75844 1 |
| Abnormality of the fontanelles or cranial sutures 0.2645170735802847 0.5713380421892539 0.5677705190759146 1.0 0.8649496007871601 102 Q16134,O96011,Q12756,O75844,Q96AY3,Q32P28,O95831,O75845,Q8NCH0,Q9NX62,P29084,P49711,P40855 13 |
| Telecanthus 0.3065730679453443 0.5712260266976988 0.567846437868071 1.0 0.8649496007871601 41 Q16134,Q93008,Q03164,O75844,Q96N67,Q86XL3,P29372,Q8NCH0,P21964,Q12948 10 |
| Alopecia totalis 0.4587884659821847 0.5702114443301376 0.568534294909123 1.0 0.8649496007871601 6 O75844 1 |
| Aplasia hypoplasia of the tongue 0.4587753252356364 0.5701580532449264 0.5685705035254944 1.0 0.8649496007871601 6 Q9UBM7 1 |
| Progressive inability to walk 0.365573831956701 0.5700366365973237 0.5686528496302972 1.0 0.8649496007871601 19 Q15043,Q9H269,Q96RR1,Q86SX6 4 |
| Central apnea 0.4454487957232313 0.569976447654143 0.5686936725461 1.0 0.8649496007871601 8 Q9NZJ7 1 |
| Abnormality of metacarpal epiphyses 0.4281456008004859 0.5691074163307364 0.5692832456898622 1.0 0.8651594798510609 5 P16435,O95202 2 |
| Renal tubular acidosis 0.3815468994935622 0.5676455694444127 0.5702756579186239 1.0 0.8659690175058055 15 O75306,Q9Y276,P16930 3 |
| Ophthalmoparesis 0.2699209904643634 0.5671875033880742 0.5705867973922989 1.0 0.8659690175058055 84 P26640,Q96CU9,O75306,Q9UI09,Q7KZN9,Q96IX5,Q969G3,P51530,P03886,O00170,Q10713,Q92620,P12235,P03915,Q8N183,O75489,Q96RR1,Q9P0J0,P30038,P22570,O43819,O95299,P00403,Q9BPX6,P04062,O15460,O43395,Q96DP5 28 |
| Atresia of the external auditory canal 0.4154182673780702 0.5665833405213038 0.5709972961509022 1.0 0.8659690175058055 12 Q15427,Q6KC79,O60885,Q9UQE7 4 |
| Anencephaly 0.3746678184147632 0.5663770445551797 0.57113749623975 1.0 0.8659690175058055 16 O43505,P21964,Q92917,Q96J42 4 |
| Urticaria 0.4253623636572046 0.5663750012526647 0.5711388849634536 1.0 0.8659690175058055 11 Q15427,Q6P1M0,P19447,P51648,P18074 5 |
| Abnormal drinking behavior 0.3584846587351296 0.5642805851003136 0.5725631922693806 1.0 0.8672676188358288 3 O76024,Q8N5K1 2 |
| Hyperphosphaturia 0.3584846587351243 0.5642805851002878 0.5725631922693981 1.0 0.8672676188358288 3 O14745,Q01968 2 |
| Abnormal urine phosphate concentration 0.3584846587351243 0.5642805851002878 0.5725631922693981 1.0 0.8672676188358288 3 O14745,Q01968 2 |
| Abnormal metatarsal morphology 0.3482722316383907 0.5618206867485511 0.5742381961708654 1.0 0.8686561290376049 24 O95202,Q15392,Q9UBM7,Q9H5K3,P10644,P16435,Q7RTS9,Q13363,O43505 9 |
| Fulminant hepatic failure 0.3575453976205326 0.5596319726156985 0.5757304919410859 1.0 0.8703388697044128 3 P40939,Q96RP9 2 |
| Abnormal c peptide level 0.3575453976205314 0.5596319726156923 0.5757304919410902 1.0 0.8703388697044128 3 P40939,A5YKK6 2 |
| Myoclonus 0.265498319838707 0.5590115769681581 0.57615381923662 1.0 0.8706915566432035 98 O14653,O95319,O14773,P37198,P00374,Q969G3,P03886,Q10713,P03915,Q86SX6,Q96RR1,Q9H936,Q8NI60,Q9UBX3,P53597,P27544,P00403,Q12756,O96008,Q96JM3,Q9ULM3,Q96N67,Q9NZJ7,O75845,P04062,P61981,P13073 27 |
| Abnormal patella morphology 0.3444367631389149 0.5579422045269877 0.5768838507101481 1.0 0.8710135166885896 25 O43709,Q96AY3,Q9NX62,Q93008 4 |
| Spastic diplegia 0.3505810417515408 0.5578006524894985 0.5769805171015743 1.0 0.8710135166885896 23 Q99720,Q86SX6 2 |
| Vascular skin abnormality 0.2564713767483574 0.5572710346047075 0.5773422627388225 1.0 0.8710511188242623 113 Q06136,Q6P1M0,P22830,O75306,P10644,P36543,Q8NCH0,Q13126,P03886,P03915,O95453,Q15427,Q14739,O75844,P21964,O60885,Q6KC79,P18074,P38435,P00403,Q9UBM7,P35222,P49257,P21359,P10619,P51648,P04062 27 |
| Postaxial hand polydactyly 0.4132128367653728 0.5559420508536962 0.5782504703571592 1.0 0.8718472047306691 12 Q96J42,Q9UBM7,O75845 3 |
| Abnormality of urine homeostasis 0.2579527209729795 0.5553089306454532 0.5786833713722801 1.0 0.8722128972459826 191 P36551,P10644,Q92621,Q9H6K4,P48735,Q4J6C6,Q12769,P50542,P16930,P04637,Q16134,O43772,Q9BUB7,Q96DA6,O75880,Q9Y276,P09601,Q5JRA6,P05023,P03886,O43707,P12235,P03915,O95470,Q9Y5U9,Q7Z4W1,Q13423,P30038,P23786,P18074,Q6KC79,O15111,P53597,Q9H0P0,P00403,Q9H9P8,P35610,P49257,P21359,O14678,O43709,Q9NVI7,P04062,O15460,Q96HY7,P11310 46 |
| Spinal canal stenosis 0.4487777020215973 0.5549063687495601 0.5789587054683172 1.0 0.8723409366839294 7 Q8IWS0,O00170,P10644 3 |
| Abnormal metacarpal morphology 0.3271469414566648 0.5543411505332013 0.5793453929248895 1.0 0.872636617482526 32 Q15233,Q32P28,O75962,P10644,P16435,Q7RTS9,Q9NX62,O60885,Q6KC79 9 |
| Sensory axonal neuropathy 0.3694351650634988 0.5529494115798209 0.5802980512679197 1.0 0.8733569084525116 17 O95140,Q96RR1,P09651,Q15067,O95831,Q16854,Q8IV08 7 |
| Abnormality of the musculature of the limbs 0.2577475107136952 0.5524971819164902 0.5806077646437113 1.0 0.8733569084525116 165 O14802,P36551,Q07020,O95319,P37198,Q99720,Q7RTS9,Q92734,O75147,P07196,P18077,Q13126,Q969G3,P51530,Q9H5K3,P05023,Q2TAA5,P12235,O95298,P50402,Q8WVX9,Q14739,Q96RR1,P39210,Q15067,Q9Y223,O43819,O15269,O75298,Q12756,O75340,P60866,Q9UGM6,P21359,Q8TB36,Q9NZJ7,Q969X5,P61981,P62857 39 |
| Pes cavus 0.2635292586408564 0.5510032161451731 0.5816314698669935 1.0 0.8740686765925105 101 Q8WWQ0,Q9H6K4,Q99720,Q9NR77,Q15046,P50542,P07196,P40939,Q9BRK0,Q93008,O95831,P05023,Q8N2K0,Q96PZ0,Q10713,Q15022,Q9BPU6,Q8WVX9,Q14739,O95140,Q96RR1,O00764,O75648,P39210,Q12830,Q8NI60,Q9Y296,P29084,O15269,O75298,P21359,Q8TB36,Q08J23,P04062 34 |
| Pancreatic cysts 0.4537669389952451 0.5499120469594242 0.582379700945338 1.0 0.8746194001086656 6 Q96J42 1 |
| Glomerulopathy 0.4212251132267722 0.5471757496864998 0.584257994857529 1.0 0.8765832323479225 11 Q9NZ08 1 |
| Developmental stagnation 0.4465896879618106 0.545858711126572 0.5851630619126629 1.0 0.8773616327499416 7 P37198,P16278,P24928 3 |
| Shoulder girdle muscle weakness 0.4205963150625819 0.5442738581574829 0.5862530334523375 1.0 0.8781931375602398 11 P12235,Q96RR1,Q9NZJ7 3 |
| T cell lymphoma 0.4223057644110388 0.544216316531229 0.5862926250102081 1.0 0.8781931375602398 5 P52701,O60934,Q07864,P49327 4 |
| Constipation 0.2653806367965235 0.5420606894639056 0.5877766981927097 1.0 0.8790417238927449 95 P00403,Q96RR1,Q9UBM7,Q03164,P60866,Q93008,O75962,P16435,Q8NCH0,P03886,O43709,Q13423,Q9HCK8,P12235,P03915 15 |
| Macroorchidism 0.4216843537916693 0.5415867932474331 0.588103191843591 1.0 0.8790417238927449 5 Q06787 1 |
| Increased female libido 0.3164319248826395 0.5411649038263047 0.5883939256174266 1.0 0.8790417238927449 2 Q8WWQ0 1 |
| Hypothalamic gonadotropin releasing hormone deficiency 0.3164319248826395 0.5411649038263047 0.5883939256174266 1.0 0.8790417238927449 2 Q8WWQ0 1 |
| Non obstructive azoospermia 0.3164319248826395 0.5411649038263047 0.5883939256174266 1.0 0.8790417238927449 2 Q8WWQ0 1 |
| Ectrodactyly 0.3639773113444368 0.5397353766435037 0.589379539262602 1.0 0.8796588523513497 18 Q99720,P48449,Q9UBM7 3 |
| Hypertonia 0.2382011623458934 0.5375670669069609 0.590875971669329 1.0 0.8808562989928279 376 P36543,P37198,Q99720,Q9UI09,P07196,P04637,Q9BRK0,Q96DA6,Q15392,Q15165,Q10469,P03886,Q8N2K0,O15020,Q15022,P03915,O95298,Q8WVX9,O96011,Q14739,Q14139,Q15067,Q9P0J0,P29084,P18074,Q9UBX3,P22570,O43819,P53597,O75298,Q9H9P8,Q9UBM7,Q96JM3,P51648,P26358,P04062,Q9NXE4,Q96DP5,O14802,P49914,O95319,Q96CU9,Q709C8,Q12955,Q6DKK2,Q7KZN9,O95831,Q2TAA5,Q8N183,Q86SX6,Q9H936,Q86XL3,Q14671,Q12756,Q9NZJ7,Q9UGM6,Q13409,P49902,O75306,Q9H6K4,Q7RTS9,Q92734,Q9Y320,Q10713,P12235,P40855,O43681,O43292,Q9Y287,Q6KC79,O43505,P60866,O43709,Q5JTZ9,Q9NVI7,Q15041,Q15043,Q06787,Q9Y276,Q8NI27,O95453,Q96RR1,O60885,Q9C0E8,O96008,Q5MNZ6,P35610,P35222,Q9BPX6,Q96GW9,P61981 91 |
| Hepatomegaly 0.257577675493779 0.5373289358207212 0.5910404213734051 1.0 0.8808562989928279 177 O75306,Q86Y39,O43676,P00374,Q16134,O43772,O75880,P09601,Q6NUQ1,P03886,Q10713,P03915,Q8N183,P40855,Q86SX6,O96011,P11310,O75340,Q9H0U3,Q9NZJ7,O75845,P23786,Q9Y375 23 |
| Widow s peak 0.3915665693555724 0.5371753904040821 0.5911464686606167 1.0 0.8808562989928279 4 O15344,P29372 2 |
| Heterogeneous 0.3028171066127937 0.5365482905529526 0.5915796706459069 1.0 0.8809105535880762 42 P35222,O75844,Q8TB36,P29372,P03886,P21964,P12235,P03915,Q12948,P07196 10 |
| Occipital meningocele 0.4202325919133094 0.5354583565738708 0.5923329462993052 1.0 0.8811914155660443 5 Q10713 1 |
| Cerebral hypoplasia 0.3752699915612769 0.5335581774536757 0.593647250172749 1.0 0.8825735562269746 15 Q86XL3,Q5MNZ6,Q9UBM7,Q00534 4 |
| Advanced eruption of teeth 0.4177314943958126 0.5311081642605868 0.5953438269749749 1.0 0.883662266018573 11 Q9UBM7 1 |
| Lower limb hyperreflexia 0.3622383262851866 0.5296769115195304 0.596335958660855 1.0 0.8845068488562604 18 Q12756,Q15233,Q15041,P13073,Q8WVX9 5 |
| Abnormality of the liver 0.2261416386189872 0.5287904847982478 0.5969507991897316 1.0 0.8845068488562604 305 Q8N511,P22830,O75306,P10644,O43676,Q86Y39,Q9Y2R9,P00374,P49711,P16930,P04637,Q16134,Q7KZN9,O43772,Q9BUB7,Q9Y276,O75880,Q93008,Q969G3,P09601,Q6NUQ1,P03886,Q10713,P12235,P03915,Q8N183,P40855,Q86SX6,O95453,O96011,Q96RR1,P39210,O43681,Q9Y5U9,Q9Y6B6,P21964,O95202,P23458,Q9UJW0,O75340,Q9H0U3,Q9UBM7,Q9Y375,P60866,P35610,P35222,P10619,Q9NZJ7,O75845,O43709,Q9NVI7,P23786,P11310,Q96J42,Q7Z2Z2 55 |
| Thyroid adenoma 0.418539808827536 0.5283389266777925 0.5972641183678022 1.0 0.8845068488562604 5 P10644 1 |
| Glaucoma 0.2634059256231659 0.5259674060439956 0.5989108534915104 1.0 0.88611793695138 97 Q06136,Q8NCH0,P18077,Q9H5K3,P61586,P12235,P40855,O96011,Q86XL3,P21964,O60885,Q6KC79,Q12948,O43505,Q9UBM7,P60866,P21359,O43709,O43395,P62857 20 |
| Recurrent viral infections 0.373357919178056 0.5232897073901274 0.6007726624695855 1.0 0.8877098962575883 15 Q13432 1 |
| Dysplastic corpus callosum 0.4063680577848761 0.5232746361805064 0.6007831489076345 1.0 0.8877098962575883 12 P49902,Q15233 2 |
| Flared nostrils 0.4167704999896903 0.5209286298272336 0.6024164903502593 1.0 0.8894640884312968 5 Q93008 1 |
| Abnormal circulating sulfur amino acid concentration 0.4293209896552502 0.5204544979645793 0.6027468342599687 1.0 0.8894640884312968 9 P41440 1 |
| Abnormal cortical gyration 0.2451181181430868 0.5169104973484481 0.6052186393878483 1.0 0.892265050903974 123 O14802,Q00535,P42356,P78527,Q13409,P42345,P36543,P50542,Q16134,Q969G3,Q15392,Q9Y320,Q93008,Q8TAQ2,Q9H5K3,Q9Y4A5,O00139,Q10713,Q15022,Q00534,P40855,Q15427,O96011,Q14139,Q9Y5U9,Q9H936,Q86XL3,O43505,O14936,Q12756,P51532,Q96JM3,Q8IY37,Q9NXE4,P23786 35 |
| Blepharitis 0.3721211292632701 0.5166776222511898 0.6053812198193071 1.0 0.892265050903974 15 Q6KC79,O60885,O95453,Q15800 4 |
| Glioma 0.3946863485198701 0.5166165764608066 0.605423841828995 1.0 0.892265050903974 13 P04637,P60866,P21359,P48735,P20585 5 |
| Unconjugated hyperbilirubinemia 0.3486705987010499 0.5162814668810151 0.6056578383926758 1.0 0.8923228988794986 3 O14936 1 |
| Abnormal nasal base 0.4231755977550699 0.5152979087088092 0.606344860108238 1.0 0.892760973334173 10 Q96GM5,P51532,Q969G3,Q93008,Q8TAQ2,Q96ST3,P21281 7 |
| Abnormality of cardiovascular system electrophysiology 0.2449733944214871 0.5146992162479552 0.606763221202729 1.0 0.8928007277558577 123 O75306,P36543,P04637,O43772,Q9BUB7,O75880,Q10469,P03886,P12235,P03915,P50402,P40855,O96011,Q96RR1,P00403,P21359,Q8TB36,Q9NZJ7,O43709,O15460,P23786,P11310,Q96DP5 23 |
| Myalgia 0.2996409265615846 0.512947301495604 0.607988184297166 1.0 0.8940314057925592 47 P11310,Q14739,Q96RR1,P35222,P51530,Q8NBM4,P21964,P23786,P12235,P30038,O15460,Q9NZ08,Q06787 13 |
| Cerebral white matter hypoplasia 0.4441488215876693 0.511639225643231 0.6089035273556098 1.0 0.8943941158167699 6 Q9UGM6,Q9Y320 2 |
| Prominent nose 0.3588888406757921 0.510449317621444 0.6097367132422373 1.0 0.8943941158167699 18 Q8ND04,Q13409,Q15233,P40855 4 |
| Abnormality of the urinary system physiology 0.2338901073828898 0.509806802772093 0.6101868193023183 1.0 0.8943941158167699 276 O14802,P36551,Q96CU9,O75306,P10644,Q92621,O43676,Q8NCH0,Q86Y39,Q9H6K4,P48735,Q4J6C6,Q12769,P61619,P16930,P04637,Q16134,O43772,Q9BUB7,Q96DA6,O75880,Q9Y276,P09601,Q5JRA6,P05023,P03886,Q9NQH7,Q10713,P12235,P03915,Q9NZ08,Q8N183,O95470,P40855,Q9Y5U9,Q7Z4W1,Q13423,O60885,P30038,P23786,P18074,Q6KC79,O43819,O15111,P23458,P53597,Q9H0P0,P00403,Q9H9P8,Q9Y375,P35610,P26038,P49257,P21359,O14678,O43709,Q9NVI7,P04062,Q8NBM4,O15460,Q96HY7,P11310 62 |
| Abnormality of the lower urinary tract 0.2519820142338618 0.5078834674203245 0.6115350696170498 1.0 0.8960176148749059 225 Q07020,P42345,P10644,P29372,Q8NCH0,Q99720,Q00839,O75147,Q06787,P07196,P27635,P18077,Q9BUB7,Q9BRK0,Q96DA6,Q93008,Q969G3,P12235,Q00534,P40855,O95453,O96011,Q96RR1,O43681,O75844,O75962,Q86XL3,P16435,P21964,O60885,Q6KC79,Q8ND04,Q12948,Q9UBX3,O95202,O75298,P48449,Q12756,Q9UBM7,P60866,Q9NZJ7,O43709,Q96GW9,Q96J42,P62857,Q96DP5 46 |
| Abnormality of the diaphragm 0.3319444259665523 0.5072284182593351 0.6119945574232282 1.0 0.8961837846319053 27 Q96DA6,Q9UBM7,Q9Y4A5,Q9Y223,O60885,O95202,O15111,P62857,Q6KC79 9 |
| Eczema 0.3070295500711055 0.5007611690198387 0.6165392170408923 1.0 0.900347286830966 38 Q14739,Q9UBM7,P22830,P26038,P21964,Q8ND04,P23458,P29084,Q7Z2Z2 9 |
| Contractures involving the joints of the feet 0.3570658284482588 0.5000679072623595 0.6170272626787332 1.0 0.900347286830966 18 Q8IWS0,P49902,Q8N2K0,Q15149,Q08J23,Q8WXH0,Q9BTV4,P50402 8 |
| Abnormality of the nasal dorsum 0.297768211509858 0.4996716248591084 0.6173063154330585 1.0 0.900347286830966 48 O14802,P27635,O95202,P51530,O75844,P10644,Q10469,P18074,Q15022,Q12948,Q96J42 11 |
| Cerebellar vermis atrophy 0.4107788452229213 0.4995496405241728 0.617392225059558 1.0 0.900347286830966 11 Q10713,Q12756,Q14671 3 |
| Anophthalmia 0.3910650715007392 0.498956188637607 0.6178102487235977 1.0 0.9003837657924696 13 Q9H5K3,O43505,Q96J42 3 |
| External ear malformation 0.3534934694340513 0.4986768062580782 0.6180070867275107 1.0 0.9003842516328948 19 O96011,Q12756,Q8NCH0 3 |
| Periodontitis 0.418821036505527 0.4963185158616973 0.6196697047131126 1.0 0.9020289119978002 10 Q5JRA6 1 |
| Enlarged thorax 0.3490743721599484 0.4942223858725059 0.6211491317590783 1.0 0.9020289119978002 20 Q14739,Q99575,Q32P28,O75844,Q7RTS9,Q92917,Q02750,O75147 8 |
| Aplasia hypoplasia of the breasts 0.4396590088476144 0.4940651761266569 0.6212601506619544 1.0 0.9020289119978002 6 Q93008 1 |
| Abnormal pharynx morphology 0.3035204703833382 0.4935933093686876 0.6215934268811232 1.0 0.9020289119978002 39 Q969G3,Q93008,Q9H0U3,Q13432,P29372,Q10469,Q7RTS9,O15460 8 |
| Cataplexy 0.3439238131393722 0.4935473561496686 0.6216258874702671 1.0 0.9020289119978002 3 P26358 1 |
| Nephropathy 0.3488500152698822 0.4928954498931481 0.6220864624804547 1.0 0.9020289119978002 20 P03915,Q10713,P03886 3 |
| Generalized hypotonia 0.2340450412805434 0.4911134678376114 0.6233461965118083 1.0 0.9021390626712276 359 Q8N511,P36543,Q9UI09,P00374,Q00839,O43772,Q9BUB7,Q9Y4A5,Q10469,O15020,O14949,Q6P4A7,Q15022,O95470,Q8IWS0,Q14139,Q9P0J0,Q9Y223,P29084,P18074,Q9UBX3,O43819,O75340,Q9UBM7,Q96JM3,P46977,P62266,O75845,Q8TCJ2,P23786,P11310,Q96DP5,O14802,P26640,O95319,Q96CU9,O43676,Q8NCH0,Q86VD7,Q4J6C6,Q13363,Q12955,P49711,Q7KZN9,O75880,P51530,O95831,Q8N183,Q86SX6,Q03164,Q70HW3,Q14671,Q12756,Q8NFG4,O14678,Q9NZJ7,Q13409,Q86Y39,Q92643,Q10713,P12235,P40855,Q15233,Q14004,P39210,O43681,O43292,Q9NVI7,P13073,O14646,P42345,Q99986,P27635,Q9Y276,Q93008,Q96RR1,Q8NI60,O95202,Q9C0E8,P35222,Q96GW9,P61981 82 |
| Pigmentary retinopathy 0.293879672648517 0.4891158411792682 0.6247596869575291 1.0 0.90269403935113 51 O14802,O75489,Q7KZN9,P00403,Q15067,Q96CU9,O75306,Q9UG56,Q8N183,P03886,Q9P0J0,Q96S66,Q9UI09,P03915,P50542,Q96DP5 16 |
| Abnormality of cranial sutures 0.2636821518286422 0.4888624554673096 0.6249390776976924 1.0 0.90269403935113 82 Q12756,O75844,Q96AY3,Q32P28,O95831,Q8NCH0,O75845,Q9NX62,P29084,P49711,P40855 11 |
| Tapered finger 0.3101426699151649 0.4887336837676785 0.625030253354143 1.0 0.90269403935113 36 P27635,Q12756,Q06136,Q03164,O75962,Q8NCH0,P23786,Q14671 8 |
| Osteolysis involving bones of the upper limbs 0.4259700878421789 0.4880595193740222 0.6255076830911173 1.0 0.90269403935113 8 O75844 1 |
| Aplasia of the uterus 0.4318556106003188 0.4861051757239109 0.6268925974840132 1.0 0.9035195617536278 7 Q13363,O95202 2 |
| Skin nodule 0.341488070674432 0.4847408781193403 0.6278601656036473 1.0 0.9036853009124954 22 P34913,P48735,Q8NBM4,Q9NZ08,P16615 5 |
| Gastrointestinal carcinoma 0.320309839061195 0.4835830733462521 0.6286817899158024 1.0 0.9038656923107016 31 P18077,Q8NFG4,P35222,P60866,Q07020,P62857 6 |
| Inverted nipples 0.4153767758667212 0.4814624659983633 0.630187849848433 1.0 0.904655376841328 10 Q10469 1 |
| Schwannoma 0.3787131390174021 0.4807334642928635 0.6307059440467788 1.0 0.904655376841328 4 P21359,P10644 2 |
| Cerebral hypomyelination 0.3763845297973063 0.4794614905189684 0.6316103577818715 1.0 0.904655376841328 14 O75340 1 |
| Dystrophic fingernails 0.414876068431539 0.4793145705048189 0.6317148581424616 1.0 0.904655376841328 10 O75844,P29084 2 |
| Protruding ear 0.2953123453168091 0.4778037476697301 0.6327898935152583 1.0 0.9055100849740516 48 P27635,Q06136,Q9H5K3,Q8NCH0,O43709,P29084,O43505,O75147,Q06787 9 |
| Testicular atrophy 0.4352867439674274 0.4771409974049086 0.6332617226628932 1.0 0.9059023456888468 6 P04637,P52788,P54098,O76024,Q9NX24 5 |
| Abnormality of the thyroid gland 0.2545219653928551 0.4732722112636582 0.6360189850682993 1.0 0.9075798784126275 107 O14802,P55265,Q8WWQ0,P10644,P48735,Q15046,Q06787,P04637,P27635,Q9H1A4,Q96DA6,Q969G3,Q93008,Q8TAQ2,P03886,O00170,P12235,P03915,O95470,P00813,Q96RR1,Q13423,Q9Y223,Q9UIG0,P21964,P23458,P00403,P51532,Q8NFG4,P60866,P35222,O43709 32 |
| Gastrointestinal obstruction 0.3750739076466012 0.4729263884429127 0.6362656975790997 1.0 0.907649260992352 14 P04637,P16930,P35222 3 |
| Basal ganglia cysts 0.4282543228710148 0.4718335000042153 0.6370456372852691 1.0 0.9079128412895088 7 P37198,P23786 2 |
| Alopecia 0.2954221849430199 0.4712988638397341 0.637427326901465 1.0 0.9079128412895088 44 P48449,Q9H1A4,Q9Y276,Q06136,Q6P1M0,O75844,P61586,O15460,P29084,P18074,O95453 11 |
| Volvulus 0.4336177326576331 0.4707316452298136 0.6378323830665675 1.0 0.9079128412895088 6 Q6KC79 1 |
| Cone shaped epiphysis 0.4042847754105053 0.4706075780404721 0.6379209950386515 1.0 0.9079128412895088 11 Q5JRA6,O95831,Q7RTS9 3 |
| Abnormality of the thenar eminence 0.3517959965245864 0.4704053123913133 0.6380654694513035 1.0 0.9079128412895088 18 P18077,P62857,P60866 3 |
| Childhood onset sensorineural hearing impairment 0.3029733959311528 0.4701696751754313 0.6382337978597792 1.0 0.9079128412895088 2 P23634 1 |
| Prelingual sensorineural hearing impairment 0.3029733959311528 0.4701696751754313 0.6382337978597792 1.0 0.9079128412895088 2 P23634 1 |
| Aphasia 0.2976006100388363 0.4679570272020631 0.6398153207712143 1.0 0.9098801364909076 40 P00403,Q9H9P8,O96008,P09651,O75648,Q8NFG4,Q12830,P03886,Q96PZ0,P21964,P03915,Q9BPU6 12 |
| Acute coronary syndrome 0.3401856828002223 0.464801601095447 0.6420735410930056 1.0 0.91247880688661 21 P35222,O75844,O43709,Q8NBM4,Q8NI27,Q9NZ08 6 |
| Facial diplegia 0.3933386877543565 0.4627290825847654 0.6435585694984081 1.0 0.91402369528433 12 P42356,O43819,Q96RR1,P12235 4 |
| Decreased circulating cortisol level 0.4196898731724948 0.4624949516000338 0.6437264217988943 1.0 0.91402369528433 8 Q13423,P16435 2 |
| Eyelid myoclonus 0.4103919208407114 0.4602162243541932 0.6453610265772651 1.0 0.9160607880350152 10 P00374 1 |
| Abnormal peripheral action potential amplitude 0.409759873021019 0.4575445402350542 0.6472796958137685 1.0 0.917746414604725 10 O15269,Q92734 2 |
| Abnormality of lower limb metaphyses 0.4299318060384784 0.4566799492954246 0.6479011047101157 1.0 0.917746414604725 6 O95831 1 |
| Abnormal circulating androgen level 0.382215453554829 0.4565890988241792 0.6479664160764667 1.0 0.917746414604725 13 O14802,P04637,Q969G3,P16435,Q8IY37,Q13423 6 |
| Abnormal exteroceptive sensation 0.2876438605027657 0.4565237187588678 0.6480134187352635 1.0 0.917746414604725 53 P04637,Q12756,P39210,P60866,O95831,Q8WVX9,Q9H6K4,Q8NCH0,Q9NZJ7,Q8NBM4,O15460,P30038,O15269,Q9NZ08,Q06787,P07196 16 |
| Abnormal myelination 0.2497421447912225 0.4563325033055846 0.6481508942952618 1.0 0.917746414604725 222 O75306,Q86Y39,O43676,Q99720,Q92734,P51572,P00374,Q7KZN9,P41440,O95831,P03886,Q2TAA5,P03915,Q8N183,P40855,Q86SX6,P39210,Q9Y5U9,Q9H936,P29084,O15269,Q12756,O75340,Q8NFG4,Q8TB36,Q9NZJ7,Q9Y375,Q9UGM6,Q96DP5 29 |
| Abnormal paranasal sinus morphology 0.3364532082201153 0.4541175169352142 0.6497442460678484 1.0 0.9187222130827304 22 Q9H0U3,P21359,Q13432,Q06787,Q7Z2Z2 5 |
| Equinovarus deformity 0.429046760716559 0.4533274548605645 0.6503129659972449 1.0 0.9187222130827304 6 P40939,Q969X5,Q9NR77 3 |
| Abnormal number of erythroid precursors 0.3284340701935344 0.4524586989396896 0.6509385682342859 1.0 0.9188953863435636 25 P04637,P18077,P60866,Q07020,P62857,Q86SX6 6 |
| Juvenile myelomonocytic leukemia 0.3719163592299749 0.4517306677905855 0.6514630222036142 1.0 0.9188953863435636 4 P21359 1 |
| Myeloid leukemia 0.3719163592299749 0.4517306677905855 0.6514630222036142 1.0 0.9188953863435636 4 P21359 1 |
| Antinuclear antibody positivity 0.3997493734335941 0.451379157491207 0.6517163024922521 1.0 0.9188953863435636 5 Q05655,Q13546,Q9Y5L0,P49327 4 |
| Generalized onset motor seizure 0.2861166109539771 0.448604238883328 0.6537171754086486 1.0 0.9188953863435636 54 P27635,Q12756,Q9Y320,Q9Y5U9,Q9H936,Q96N67,Q9NZJ7,P03886,P03915 9 |
| Brachydactyly 0.2594529402118762 0.4484386032497303 0.6538366869935432 1.0 0.9188953863435636 72 P48449,Q06136,Q9UBM7,O75962,O95831,Q10469,Q7RTS9,Q9NX62,Q92643 9 |
| Supernumerary tooth 0.4277313623715053 0.4483604876501499 0.653893053061553 1.0 0.9188953863435636 6 P62266,Q9UBM7 2 |
| Pure red cell aplasia 0.341195615216818 0.4482482640780721 0.6539740339596638 1.0 0.9188953863435636 20 P18077,P62857,P60866,Q07020 4 |
| Phenotypic variability 0.2514181226635223 0.447920909202925 0.6542102775825505 1.0 0.9188953863435636 109 Q9Y2R9,P00374,Q06787,Q9Y276,Q969G3,P03886,Q6P4A7,P03915,O95470,O95453,Q8NI60,Q70HW3,Q14671,P00403,Q12756,Q8NFG4,P35222,Q9NZJ7,Q9H061,Q9Y375 20 |
| Abnormality of the extrinsic pathway 0.4219447381765331 0.4471707829773851 0.6547517550637003 1.0 0.9188953863435636 7 Q10469 1 |
| Proximal renal tubular acidosis 0.3337507827175978 0.4459940693395631 0.6556015299279241 1.0 0.9188953863435636 3 Q01968,Q9BRT2 2 |
| Abnormality of bladder morphology 0.4069539368401303 0.4457458196505156 0.6557808627986585 1.0 0.9188953863435636 10 P16435,O43709,Q15149,Q9UIG0,Q9NWM8 5 |
| Distal sensory impairment 0.2920786725705331 0.4444158101148397 0.6567419849536187 1.0 0.9198523853045472 46 Q96RR1,Q12756,P39210,O95831,Q8TB36,Q8N2K0,P18887,Q92734,P30038,O15269,P07196 11 |
| Abnormal morphology of the abdominal musculature 0.3982004019688391 0.4439942427268076 0.6570467463702769 1.0 0.9198523853045472 11 P42345,P62070,P09651,Q8NCH0 4 |
| Postaxial polydactyly 0.3402901547300791 0.443050257673774 0.657729383177208 1.0 0.9198523853045472 20 Q10713,Q96J42,Q9UBM7,O75845 4 |
| Epileptic spasm 0.2732617491500827 0.4428619173583812 0.657865614468583 1.0 0.9198523853045472 64 O75340,Q9H936,Q10469,P03886,P03915,Q9UBX3 6 |
| Hemoglobinuria 0.3697239921403144 0.4425098148264298 0.6581203295702787 1.0 0.9198523853045472 4 Q9H0P0 1 |
| Proportionate short stature 0.3072672613843689 0.4391078073053698 0.6605834222805165 1.0 0.921959561647678 34 Q15392,P35222,Q5JRA6,P10619,P10644,Q7RTS9,O75147 7 |
| Thick eyebrow 0.2903002783133989 0.4377745687861057 0.6615497079244874 1.0 0.9227460461826488 49 Q969G3,Q03164,O75962,O95831,Q96N67,Q10469,Q6KC79,P49711,O75147,O14646 10 |
| Malignant genitourinary tract tumor 0.3392637155394573 0.4371800059228388 0.6619808087078678 1.0 0.9227855386368876 20 P18077,P62857,P60866 3 |
| Abnormal lumbar spine morphology 0.3959523969456829 0.4342908689431891 0.6640772337107297 1.0 0.924301909132006 11 Q10469 1 |
| Abnormal pulmonary interstitial morphology 0.3107590977986247 0.4337183697206522 0.6644929653727387 1.0 0.9244129998244596 32 Q13432 1 |
| Hypertrophic cardiomyopathy 0.2476193595266135 0.432492209430136 0.6653837131874367 1.0 0.9246721978802396 113 Q96CU9,O75306,Q86Y39,O43676,Q9BTV4,Q9UI09,P16930,Q7KZN9,Q9BUB7,Q96IX5,Q9Y276,P03886,O00170,P12235,P03915,Q8N183,P50402,O75489,Q8WXH0,Q9P0J0,Q13423,Q9UIG0,O43819,P53597,O95299,P00403,P21359,O43709,Q5JTZ9,Q9H061,Q9NVI7,Q9Y375,Q02750,Q96DP5 34 |
| Retinal dysplasia 0.4077897798888514 0.4307499286197265 0.6666502107124563 1.0 0.9253407235202304 9 Q9H5K3,Q10713 2 |
| Abnormal gallbladder morphology 0.3150993367881491 0.4305349207264499 0.6668065700707977 1.0 0.9253407235202304 30 O43681,P22830,Q9NZJ7,O75845,O43709,Q9Y223,P21964,P40855 8 |
| Morphological abnormality of the pyramidal tract 0.3378641493217467 0.4292144903014076 0.6677671387650532 1.0 0.926266323598156 20 Q15056,O75298,Q9H9P8,O95831,Q13045,O43709,Q9UIG0,Q13148,O75569 9 |
| Biliary cirrhosis 0.4170704440331291 0.4284302286222966 0.6683379205978552 1.0 0.9265731776639554 7 P09601,Q9UJW0 2 |
| Femoral bowing 0.4069579839222726 0.4273980700694761 0.6690894128672071 1.0 0.9270227788261683 9 Q32P28,Q7RTS9 2 |
| Abnormality of the pharynx 0.2889086257954752 0.4257240551982744 0.6703089315241715 1.0 0.9276217228159932 49 Q969G3,Q93008,Q9H0U3,Q13432,P29372,Q10469,Q7RTS9,P21964,O15460,O95453 10 |
| Sparse and thin eyebrow 0.3753533674205165 0.424568722346299 0.6711510979421902 1.0 0.928226480763995 13 P48449 1 |
| Posterior embryotoxon 0.3363670474762346 0.4207440742791515 0.6739419735532259 1.0 0.9292814092148304 20 O43709,Q12948,O96011,P40855 4 |
| Limb joint contracture 0.2546342679095195 0.4192723661552204 0.6750170898467771 1.0 0.9302040017076488 98 O14802,P49902,P36543,Q99720,Q9BTV4,P49711,P07196,P27635,Q9BUB7,Q15392,Q8N2K0,Q15022,P50402,Q8IWS0,O75844,Q96AY3,Q86XL3,P16435,Q92917,Q6KC79,P18074,O75340,Q969X5,P23786 24 |
| Generalized onset seizure 0.2519977806334997 0.4188371867572848 0.6753351255157698 1.0 0.9303410809480696 104 P27635,Q12756,O14653,Q9Y320,Q93008,P42345,Q9Y5U9,Q9H936,O43292,Q9ULM3,Q9NZJ7,P03886,Q96N67,Q9NVI7,P03915,P00374,P29084 17 |
| Male reproductive system neoplasm 0.3634127897238264 0.4160472885936213 0.6773754002314649 1.0 0.9314928222870864 14 P04637,Q13423,P10644,Q8IY37 4 |
| Eeg with burst suppression 0.4040000370573047 0.4155526799596125 0.6777373591196929 1.0 0.931710944940424 9 Q2TAA5 1 |
| Neoplasm of the colon 0.3004238938756605 0.4144903624048175 0.6785150237383595 1.0 0.9325002515804328 36 P18077,Q8NFG4,P60866,Q07020,P10644,P62857 6 |
| Abnormality of limb epiphysis morphology 0.3162897924992571 0.4130775655018893 0.6795497856391732 1.0 0.93307311113729 28 O95202,Q6NUQ1,Q5JRA6,O95831,P10644,P16435,Q7RTS9,Q13363,Q7Z2Z2 9 |
| Microvesicular hepatic steatosis 0.390965305003616 0.4130251506462458 0.6795881870035978 1.0 0.93307311113729 11 Q9Y276,Q96DA6,P39210,O75648,Q9H845 5 |
| Abnormal epidermal morphology 0.3437686319552641 0.4120055200442653 0.6803353772596572 1.0 0.9331209031611338 17 O75844,Q06136 2 |
| Encephalocele 0.351773410124708 0.4116255899931261 0.680613872167928 1.0 0.9331209031611338 15 Q9H5K3,Q10713,Q96J42 3 |
| Meningocele 0.3986321711484336 0.4113724232595424 0.6807994716865278 1.0 0.9331209031611338 10 Q10713,O75845 2 |
| Increased mean corpuscular volume 0.328834787669781 0.408923757077748 0.6825956139397622 1.0 0.9338264482915444 22 P18077,P62857,P60866,Q7Z2Z2 4 |
| Limb undergrowth 0.2823548935227843 0.4087945830807825 0.682690415516892 1.0 0.9338264482915444 53 Q15427,Q15392,Q03164,Q9UBM7,P42345,P10644,P48735,Q7RTS9,O60885,Q6KC79,O15111,O75147,O00116 13 |
| Bradycardia 0.3812418222704374 0.4086835091580452 0.6827719373433159 1.0 0.9338264482915444 12 O43772 1 |
| Dermal atrophy 0.3154485375687975 0.4075713803224669 0.6835883793851827 1.0 0.9344277906750916 28 P04637,Q9H1A4,Q15392,O75844,P10644,Q8NCH0,P18074,O95453 8 |
| Partial duplication of the phalanx of hand 0.3335788658740505 0.4051105735725386 0.6853962346122402 1.0 0.9360612658698316 20 P18077,P62857,P60866 3 |
| Displacement of the urethral meatus 0.239313280706822 0.4045599829407438 0.6858009784685868 1.0 0.9363349473608656 121 Q07020,P42345,P10644,P29372,O75147,P27635,P18077,Q9BUB7,Q969G3,Q93008,P40855,O95453,O96011,O75844,P16435,P21964,O60885,Q6KC79,Q8ND04,Q12948,Q9UBX3,O95202,P48449,Q9UBM7,P60866,P62857 26 |
| Abnormal talus morphology 0.3297055254670357 0.4036908670804101 0.6864400563862865 1.0 0.9367854438956756 21 O75844,P16435,Q969X5,P18074,O75147 5 |
| Hypochromic anemia 0.379939028867077 0.4029993096908743 0.686948732319832 1.0 0.9367854438956756 12 Q96DA6,O75533,P28288,Q15046,O75027 5 |
| Retinal dystrophy 0.2737915234313898 0.4021260717073703 0.6875912461767297 1.0 0.9368653680783746 61 P27635,O96011,Q9Y276,Q9H5K3,Q15067,Q9UGM6,O43395,P03886,Q8N2K0,Q9Y287,Q10713,P03915,P38435,O43505,P40855,Q8TC12 16 |
| Multiple lipomas 0.4100884008004562 0.4020859934938299 0.6876207404730628 1.0 0.9368653680783746 7 P03915 1 |
| Erythroid hypoplasia 0.3360938529932769 0.4008969517155687 0.6884959942980915 1.0 0.937779026716366 19 P18077,P62857,P60866 3 |
| Dilated fourth ventricle 0.2864055499843149 0.4005145049451739 0.6887776021714034 1.0 0.937883795883914 41 O14802,Q969G3,Q93008,Q9UBM7,Q8TAQ2,Q9H5K3,Q9UGM6,P36543,Q10713,P23786,Q9BPU6,O43505,O14936,Q96J42,Q8WVX9 15 |
| Contractures of the joints of the upper limbs 0.2569766807121073 0.3980300228932193 0.6906080551560618 1.0 0.9392597532576656 70 O14802,P27635,Q9BUB7,Q15392,O75844,Q96AY3,P16435,Q99720,Q9BTV4,Q969X5,P23786,P50402,Q92917,Q15022,P18074,P49711,Q6KC79,P07196 18 |
| Dilation of lateral ventricles 0.3245965934953252 0.3963149588859014 0.6918726932030093 1.0 0.9404214417846896 23 Q12756,O75340 2 |
| Abnormal pupil morphology 0.3485063997878006 0.3954823842507957 0.6924869196175756 1.0 0.9406982109954732 15 Q13363,Q12948,P61586,O95202 4 |
| Abnormal circulating free fatty acid concentration 0.3576573755089423 0.3930162059203916 0.694307511935901 1.0 0.942054195940272 4 P40939,O75431,P49748 3 |
| Progressive visual loss 0.3154081150541597 0.3897776728704652 0.6967009550437289 1.0 0.9434813855079108 26 Q969G3,P35222,P21359,O75306,P03886,P03915,Q8TC12 7 |
| Abnormality of circulating adrenocorticotropin level 0.4011010973090552 0.3896240810397152 0.6968145425924384 1.0 0.9434813855079108 8 P10644,Q13423,P16435,Q969G3 4 |
| Exercise induced myalgia 0.3767293606209144 0.3891146655425017 0.6971913251943329 1.0 0.9434813855079108 12 P23786 1 |
| Increased proteinogenic amino acid level in urine 0.3767235511940618 0.3890896908872433 0.6972097992973736 1.0 0.9434813855079108 12 P11310,O14678,P30038 3 |
| Furrowed tongue 0.4114845912487287 0.3886439903035612 0.6975395204548789 1.0 0.9434813855079108 6 P21912,O15078,Q9H2M9,Q96J42 4 |
| Peripheral axonal neuropathy 0.2660987138790863 0.3885292865484621 0.6976243854432129 1.0 0.9434813855079108 65 P00403,Q12756,P39210,O95831,Q9NZJ7,P03886,Q8IV08,P12235,P03915,O15269 10 |
| Congenital ichthyosiform erythroderma 0.3829270617087997 0.3861254950044702 0.699403728967426 1.0 0.9446377752386744 5 P18074,P04062 2 |
| Limited hip movement 0.3407820725700606 0.3850707672751577 0.7001849855171385 1.0 0.9452703605302089 16 O75844,Q96AY3 2 |
| External genital hypoplasia 0.2351087180934713 0.3830612419602162 0.7016743562270802 1.0 0.9464832112678332 124 P78527,P49711,Q06787,P27635,Q96DA6,Q9H5K3,Q9Y4A5,Q10713,Q8NI27,Q15022,O95470,O75844,Q9Y5U9,Q9H936,P16435,O60885,Q6KC79,O43505,P48449,Q9UBM7,P46977,O75845,O43709,Q9NVI7,Q8TCJ2,O43395 26 |
| Nyctalopia 0.2937718392975217 0.3800454466804956 0.7039116800194454 1.0 0.9475721663230032 37 O96011,Q13432,Q9Y287,Q10713,Q96S66,P40855 6 |
| Abnormal intraocular pressure 0.4088975071609169 0.3794297448438832 0.7043687658233106 1.0 0.9475721663230032 6 Q15043,Q8NCH0 2 |
| Single transverse palmar crease 0.2843029569685938 0.3788688806191841 0.7047852341398506 1.0 0.9475721663230032 44 P27635,O95202,O96011,P62266,Q6KC79,Q8NI27,O60885,Q13363,Q9NXE4,P49711,P40855 11 |
| Abnormality of the urethra 0.2385382041134079 0.3777427461225148 0.7056217096185653 1.0 0.9478627912973606 133 Q07020,P42345,P10644,P29372,O75147,P27635,P18077,Q9BUB7,Q969G3,Q93008,P40855,O95453,O96011,O75844,P16435,P21964,O60885,Q6KC79,Q8ND04,Q12948,Q9UBX3,O95202,P48449,Q9UBM7,P60866,O43709,P62857,Q96J42 28 |
| Abnormality of the upper arm 0.3250580408088493 0.3774639345214327 0.7058288616120896 1.0 0.9478627912973606 21 O14802,P53597,P16435,Q7RTS9,Q9BTV4,P50402,P50542,O00116 8 |
| Vertebral compression fracture 0.344602346351167 0.3764821856831167 0.7065584567531884 1.0 0.9485553713097844 15 Q32P28,Q96AY3,O00170,P04062,O75718,Q7Z2Z2 6 |
| Restless legs 0.3801648830762975 0.3757806872961741 0.7070799465979367 1.0 0.948665661393733 5 Q709C8,P07196 2 |
| Absent testis 0.3529070504499829 0.3741514840961051 0.708291616909626 1.0 0.9489450844093292 4 Q8IY37 1 |
| Abnormal renal pelvis morphology 0.2783015290559838 0.3733247140620221 0.708906784738714 1.0 0.9493505078134178 53 O14802,O96011,Q93008,Q9UBM7,P35222,Q5JRA6,P21359,Q9Y4A5,P16435,Q8NCH0,P23786,O43505,P50542,P40855 14 |
| Rod cone dystrophy 0.2832853941515321 0.3726817101109883 0.7093853505812187 1.0 0.9493505078134178 47 P27635,O96011,Q9Y276,Q15067,Q9UGM6,O43395,P03886,Q8N2K0,P03915,P38435,P22570,P50542,P40855,Q8TC12 14 |
| Foot dorsiflexor weakness 0.2964750070663746 0.3726439116014805 0.7094134862896657 1.0 0.9493505078134178 35 Q14739,P39210,P05023,Q8TB36,Q99720,Q9NR77,Q9BQT8,Q9Y223,Q15046,O43819,O15269,P07196 12 |
| Muscle spasm 0.2692482323098479 0.3726311445182888 0.7094229896885951 1.0 0.9493505078134178 62 O75298,O75340,P51530,Q15165,Q9H6K4,Q92734,P23786,P11310 8 |
| Bimanual synkinesia 0.3165309956167751 0.3696005689127397 0.7116801271447522 1.0 0.9515879913012888 3 P19022,Q8WWQ0 2 |
| Pterygium 0.371562781612085 0.3671324997406811 0.7135201860952272 1.0 0.9530174222251612 12 Q96AY3,P19447,Q15149,O15111,P18074 5 |
| Positional foot deformity 0.2501566410763 0.3651998577567742 0.714962224465773 1.0 0.9530174222251612 98 P49902,P36543,Q8NCH0,Q7RTS9,P07196,Q15392,Q6NUQ1,Q15022,Q15427,Q96AY3,P16435,Q8NI60,P21964,O60885,Q6KC79,O95202,Q12756,Q9UBM7,Q8TB36,O75845,Q9NVI7,Q969X5,Q9UGM6,Q96J42 24 |
| Increased sulfur amino acid level in urine 0.3768813058490649 0.3636277779231753 0.7161359810019903 1.0 0.9538764723695116 5 O14678 1 |
| Neoplasm of the large intestine 0.2842060690754765 0.3613976216255296 0.717802225699562 1.0 0.9542647526727166 40 P18077,Q8NFG4,P60866,Q07020,P35222,P10644,P62857 7 |
| Aplasia hypoplasia involving forearm bones 0.3204987535989844 0.361202306122059 0.7179482183135941 1.0 0.9542647526727166 22 Q9UBM7,Q96AY3,O75962,P10644,Q6KC79,O75147 6 |
| Generalized muscle weakness 0.2975423503445557 0.3600684905698691 0.7187959154946078 1.0 0.9542647526727166 33 Q15165,O95831,P12235 3 |
| Metaphyseal dysplasia 0.3780897411932947 0.3598936665759017 0.7189266534758223 1.0 0.9542647526727166 11 Q7RTS9,O95831,Q7Z2Z2 3 |
| Progressive 0.2426437698962088 0.3579126185120589 0.7204087072363392 1.0 0.9554016487863694 112 O14802,P26640,O14653,Q15043,Q99720,Q709C8,Q9UI09,Q99986,P61619,Q13126,O95831,P12235,Q8N183,O95470,Q96RR1,P39210,Q14671,O75298,P27544,Q12756,Q5MNZ6,P26358,Q5JTZ9,P04062,P18887 25 |
| Shield chest 0.4014668371754114 0.3534472001610855 0.7237532056399016 1.0 0.9587271431749146 6 Q7RTS9,Q99575 2 |
| Abnormal levels of alpha fetoprotein 0.4009848169889194 0.3517871365488166 0.7249979062601994 1.0 0.959866368736388 6 P16930,P35222 2 |
| Bruxism 0.3905372067894926 0.3502833539360207 0.7261260565374981 1.0 0.959866368736388 8 Q9Y5P4,P51608,Q12955,Q01082,Q7L2E3,P42858 6 |
| Gowers sign 0.3389972938174876 0.3497824172389546 0.7265019955267606 1.0 0.959866368736388 15 P51530,O75340 2 |
| Abnormality of central nervous system electrophysiology 0.2420973259825775 0.3466347665858504 0.7288657235014833 1.0 0.9615104030513912 151 Q00839,P07196,P27635,Q9Y276,Q10469,P03886,Q2TAA5,P03915,P40855,Q8IWS0,O96011,Q14139,Q9Y5U9,Q15067,Q9H936,O43292,P21964,P30038,O95202,P18074,Q9UBX3,P00403,P48449,O75340,Q12756,Q8NFG4,Q9ULM3,P21359,Q96N67,Q9NZJ7,Q5JTZ9,P61981,P13073 33 |
| Abnormal dermoepidermal junction morphology 0.3108954289292379 0.3458514536078402 0.729454354095366 1.0 0.9615104030513912 3 Q15149,P14923 2 |
| Leukoencephalopathy 0.2491017315563223 0.3455159942424197 0.7297064881369963 1.0 0.9615104030513912 96 Q96CU9,O75306,Q86Y39,O43676,Q13363,P27635,Q9BUB7,O95831,P03886,O95298,Q8N183,O75489,O43681,O95202,P29084,P18074,P53597,Q9H9P8,Q12756,Q96JM3,Q9NZJ7,Q5JTZ9,Q96GW9,Q9Y375,Q9UGM6 25 |
| Congenital diaphragmatic hernia 0.3157923110772136 0.3455124293206071 0.7297091677187861 1.0 0.9615104030513912 23 O95202,Q9UBM7,Q9Y4A5,O60885,Q6KC79,O15111,P62857 7 |
| Ectopic kidney 0.3379282863802469 0.3447704531538366 0.730266947620009 1.0 0.9615104030513912 15 P51530,O43709,Q6KC79 3 |
| Abnormality of coagulation 0.2597295241518014 0.3438762159190083 0.7309393792507262 1.0 0.9615104030513912 66 P62070,P10644,P36543,P48735,P50542,P16930,P28288,P40939,Q9Y276,Q6NUQ1,Q10469,O95453,P40855,O96011,O75648,Q9Y223,P38435,O75340,P49257,Q4KMQ2,Q02750,Q7Z2Z2 22 |
| Non hodgkin lymphoma 0.3812506545363476 0.342838414395245 0.7317200248900599 1.0 0.9615104030513912 10 P04637,Q9H0U3 2 |
| Decreased fertility in females 0.3983240579226911 0.3426806984085849 0.7318386849127909 1.0 0.9615104030513912 6 O00170,Q96RD7 2 |
| Milia 0.3099561678146491 0.3419579114328935 0.7323825666966677 1.0 0.9615104030513912 3 Q15149,Q9H4L7 2 |
| Low hanging columella 0.3655000993003269 0.3419422489381628 0.732394353879052 1.0 0.9615104030513912 12 O75962,Q10469 2 |
| Abnormality of prothrombin 0.3319610438862233 0.3416994039932762 0.7325771206856322 1.0 0.9615104030513912 16 P38435,Q6NUQ1,P49257,Q7Z2Z2 4 |
| Abnormal circulating glycine concentration 0.3733203249372609 0.3409062233033261 0.7331741796466869 1.0 0.9615104030513912 11 Q86SX6,P30038 2 |
| Oligomenorrhea 0.3706140350877319 0.340882435154727 0.7331920884370513 1.0 0.9615104030513912 5 Q9UNE7,O00170,Q15031,P31751 4 |
| Abnormal uterus morphology 0.3047873645889744 0.3398124968583763 0.7339977362297223 1.0 0.96228258294838 28 P04637,P60866,P35222,Q8NFG4,Q9UBM7,P10644 6 |
| Abnormality of the diencephalon 0.2966847711963813 0.3372939369861785 0.7358953297818132 1.0 0.963667448145261 32 Q96RR1,Q969G3,Q9H269,Q9H5K3,O75306,O43709,Q92917 7 |
| Aqueductal stenosis 0.3966427548900065 0.3369769047590344 0.7361343102747919 1.0 0.9637049741940276 6 P21359 1 |
| Abnormality of vitamin metabolism 0.3055709080193977 0.3363778403700179 0.7365859577231688 1.0 0.9639578360321718 27 P41440,O14678,Q9Y6B6,P30038,Q7Z2Z2 5 |
| Abnormal endocardium morphology 0.3360585400133965 0.33606783391059 0.7368197139671013 1.0 0.9639578360321718 15 P10644,O43709,P04062,Q8NBM4,Q9NZ08 5 |
| Abnormal penis morphology 0.2445406724346756 0.3339354777459102 0.7384282475942965 1.0 0.9645043581683744 195 O14802,P55265,P78527,Q07020,P42345,P10644,P29372,Q13363,P49711,P50542,O75147,P27635,P18077,Q9BUB7,Q96DA6,Q969G3,Q93008,Q8TAQ2,Q9H5K3,Q9Y4A5,O00170,Q10713,Q92620,Q8NI27,Q15022,Q9BPU6,O95470,P40855,O95453,Q8IWS0,O96011,O75844,Q9H936,P16435,P21964,Q9UIG0,O60885,Q6KC79,Q8ND04,P18074,Q9UBX3,Q12948,O43505,O14936,P53597,O95202,P48449,P51532,Q02750,Q9UBM7,P60866,P46977,Q8IY37,O75845,O43709,Q9NVI7,Q8TCJ2,O43395,P62857 59 |
| Sparse body hair 0.37886146054177 0.3337915571638153 0.7385368548109141 1.0 0.9645043581683744 10 P48449 1 |
| Abnormal ureter physiology 0.2782852662932591 0.3326038971018463 0.7394333012513292 1.0 0.9649909958227258 47 O14802,Q9UBM7,Q14839,Q9UQE7,Q12830,Q9Y4A5,P16435,Q86XL3,O43709,Q96L73,P21964,Q9UIG0,Q9NVI1,O60885,Q00534,Q00839,Q6KC79 17 |
| Abnormal lung lobation 0.3542754616838961 0.3313817108585833 0.7403561778389802 1.0 0.965370519879968 13 O15111,P21964,Q9UBM7 3 |
| Deep plantar creases 0.3676759996667192 0.3304298264778465 0.7410752076930234 1.0 0.9654902386769056 5 P42345,P21281,O00170 3 |
| Myoclonic seizure 0.2704190696568213 0.3303881798800234 0.7411066716690424 1.0 0.9654902386769056 57 Q12756,Q9H936,Q9Y5U9,P03886,Q8WWV3,P03915 6 |
| Hypogonadism 0.2484747102955488 0.3297836160191157 0.7415634679837928 1.0 0.9654902386769056 93 O14802,P62070,P10644,Q9Y2R9,Q4J6C6,Q06787,P04637,Q9H1A4,Q9Y276,Q969G3,Q14781,P03886,O00170,Q92620,P03915,O95470,Q8IWS0,Q96RR1,O75844,Q9Y5U9,Q9UIG0,P18074,P00403,P48449,P35222,Q8IY37,O43709,O43395,Q02750 29 |
| Ulnar claw 0.3673994854169585 0.3294531469918635 0.7418132022568158 1.0 0.9654902386769056 5 Q8TB36,P39210,P07196 3 |
| Abnormal periventricular white matter morphology 0.2821844429797677 0.327641976659524 0.7431823794958943 1.0 0.9658128350461282 39 P27635,O43681,Q9UGM6,Q9NZJ7,Q5JTZ9,P29084,O95298 7 |
| Sprengel anomaly 0.299460064505379 0.3275732496058309 0.7432343506164023 1.0 0.9658128350461282 30 P18077,Q15427,P60866,Q07020,Q9BTV4,P62857,P50402 7 |
| Limited extraocular movements 0.3891714271521046 0.3270284421341319 0.7436463732088041 1.0 0.9658128350461282 7 O75306 1 |
| Abnormal renal morphology 0.2357618159801317 0.3258309703178226 0.7445522453857021 1.0 0.9660456324563532 251 O14802,Q07020,O75306,P10644,Q92621,Q8NCH0,Q4J6C6,Q12769,Q00839,P61619,P16930,P50542,O75718,Q16134,P18077,Q9Y276,Q969G3,Q15392,Q93008,P51530,Q8TAQ2,Q5JRA6,Q9Y4A5,P03886,O43707,Q9NQH7,Q10713,P03915,Q9NZ08,Q00534,O95470,P40855,Q15427,O96011,Q03164,Q9H936,Q86XL3,P16435,P21964,Q92917,Q6KC79,O60885,O15111,O43505,O43819,P23458,P53597,P00403,Q9UBM7,Q8NFG4,P60866,P35222,P21359,O75845,O43709,Q8NBM4,P23786,P62857,Q96J42 59 |
| Dysphagia 0.2359347527856134 0.3251484511601635 0.7450687206779862 1.0 0.9660456324563532 136 O14802,O75306,P29372,P37198,Q99720,P48735,Q92734,Q06787,P03886,P12235,P03915,Q8N183,Q14739,Q15233,Q96RR1,Q03164,Q15067,Q9H936,P30038,O43819,Q12756,Q96JM3,Q8NFG4,P21359,Q9NZJ7,P04062,P18887,Q9UGM6 28 |
| Hypertrichosis 0.2428232503487061 0.3240685429965831 0.7458861419121452 1.0 0.9660456324563532 107 O14802,Q8WWQ0,Q96CU9,Q96A33,O75306,Q9BSJ2,Q9UI09,P49711,Q00839,P04637,Q7KZN9,Q969G3,Q93008,Q8TAQ2,P03886,O00170,Q9H3H5,Q15022,P03915,Q8N183,Q7L2E3,Q5UCC4,O75489,O75251,O75648,Q03164,O75962,Q9P0J0,Q9Y223,O60885,Q6KC79,O43819,O95299,P00403,P51532,Q96N67,P62266,Q9NXE4,Q96DP5 39 |
| Proximal muscle weakness in upper limbs 0.3431345501525182 0.3232562867544801 0.7465011563863464 1.0 0.9660456324563532 14 P36551,Q8WXH0,Q9BTV4,P50402,P07196 5 |
| Neoplasm of fatty tissue 0.3759431318005879 0.3228711553638115 0.7467928220353108 1.0 0.9660456324563532 10 P03915,Q8NFG4 2 |
| Ketosis 0.3234959381583534 0.321384730388267 0.7479188532495702 1.0 0.9660456324563532 18 P11310,Q96RR1,P12235 3 |
| Abnormal liver morphology 0.2381881083843861 0.3209541752434819 0.7482451179910146 1.0 0.9660456324563532 242 Q8N511,P22830,O75306,Q86Y39,O43676,P00374,Q16134,Q7KZN9,O43772,O75880,P09601,Q6NUQ1,P03886,Q10713,P03915,Q8N183,P40855,Q86SX6,O96011,Q9Y6B6,O75340,Q9H0U3,Q9Y375,Q9NZJ7,O75845,P23786,P11310,Q96J42 28 |
| Ectopic calcification 0.2673172449020186 0.320848558268422 0.7483251589835693 1.0 0.9660456324563532 59 O96011,Q9UBM7,O75844,P03886,O75845,P23786,P03915,P38435,P40855,O00116 10 |
| Triphalangeal thumb 0.3113496534461449 0.3207617403870065 0.7483909552623138 1.0 0.9660456324563532 23 P18077,P62857,P60866,Q07020 4 |
| Vertebral hypoplasia 0.3753613681103674 0.3207115460208105 0.7484289966776436 1.0 0.9660456324563532 10 Q6NUQ1,Q14739,P10644 3 |
| Increased intramyocellular lipid droplets 0.3915846706094269 0.3200582645434549 0.7489241628840082 1.0 0.966328141340142 6 Q8NI60 1 |
| Postural instability 0.3253728712135043 0.3195375783957749 0.7493189002858973 1.0 0.966328141340142 17 P41440,P04062,Q709C8,Q8WVX9 4 |
| Acne 0.34167790489005 0.316924509021675 0.7513008844159845 1.0 0.9680519490828274 14 Q9NZ08,Q8NBM4,P21964 3 |
| Abnormal femoral neck head morphology 0.2761357489050762 0.3150543360490847 0.752720398734507 1.0 0.9680519490828274 44 O75844,Q6NUQ1,Q96AY3,O95831,Q10469,P29084 6 |
| Urinary incontinence 0.2761009488619168 0.3143138089904195 0.7532827112474159 1.0 0.9680519490828274 45 O75298,O96011,Q969G3,O43681,O75962,Q9NZJ7,Q99720,Q06787 8 |
| Narrow mouth 0.2546529867195611 0.3130531551979091 0.7542402782282673 1.0 0.9680519490828274 67 P27635,Q15233,Q14004,Q15392,O75844,P16435,Q8NCH0,Q9NVI7,Q9NX62,P49711 10 |
| Papilloma 0.3766287465658579 0.311958118067157 0.7550723529668772 1.0 0.9680519490828274 9 P04637,P18074,P16615,P20585 4 |
| Combined immunodeficiency 0.3766088073844242 0.3118869464161427 0.7551264432950662 1.0 0.9680519490828274 9 Q10469 1 |
| Abnormality of alkaline phosphatase level 0.3076370766241568 0.3118268747102675 0.7551720986190991 1.0 0.9680519490828274 24 Q8N511,Q96AY3,O75845 3 |
| Recurrent respiratory infections 0.2316593677188299 0.311740093794694 0.7552380548205511 1.0 0.9680519490828274 122 O14802,P78527,Q13432,Q7RTS9,Q13363,P49711,P50542,Q969G3,Q93008,P09601,Q8TAQ2,Q10469,O95298,O95453,P00813,Q9Y5U9,Q9H936,Q9UIG0,O95202,P29084,P18074,Q9UJW0,P53597,Q9NRZ9,Q12756,P51532,Q9H0U3,Q96JM3,P26038,Q9NZJ7,O43709,P04062,O15460 33 |
| Osteomyelitis 0.3254627936308281 0.3109538695466719 0.7558356910202781 1.0 0.9684105187948292 16 O15269,Q13126,P39210,Q7Z2Z2 4 |
| Gingival bleeding 0.3653172444077678 0.3099500478472701 0.7565989428999478 1.0 0.9684105187948292 11 P49257,P10644 2 |
| Lack of skin elasticity 0.3296328390884991 0.3067945647415629 0.7589997456014475 1.0 0.9699377806453624 15 P04637,P10644,O75844 3 |
| Abnormal macroscopic urine appearance 0.3150150179041584 0.3061705654521822 0.7594747823093564 1.0 0.9701459304548288 20 Q12769,P36551,Q92621,P23786 4 |
| Male pseudohermaphroditism 0.3871762946013063 0.3056151288451581 0.759897700138374 1.0 0.970313815237515 6 Q14781,Q8IY37,Q96J42 3 |
| Fatigue 0.2471969158221802 0.3050190764698355 0.7603516232874759 1.0 0.970313815237515 82 P10644,Q4J6C6,P04637,Q15165,P12235,Q9NZ08,Q14739,Q96RR1,Q13423,P30038,P18074,Q70HW3,P60866,P35222,P21359,Q9NZJ7,P04062,Q8NBM4,O15460,P11310 20 |
| Chronic infection 0.3746242339721484 0.3048367459311678 0.7604904934365218 1.0 0.970313815237515 9 P10644,Q9H0U3 2 |
| Cupped ear 0.3477342166430879 0.3042295913868503 0.7609529819727701 1.0 0.970313815237515 13 Q15392 1 |
| Abnormal thyroid morphology 0.2846453752606925 0.3021965360056232 0.762502244742546 1.0 0.9704959126139848 36 P04637,P00813,Q96RR1,Q969G3,P51532,P60866,Q8NFG4,Q8TAQ2,P10644,P48735,P12235 11 |
| Vasculitis 0.3627335582317379 0.3002081705139338 0.7640183731862613 1.0 0.9716159272660144 11 Q9NZ08,Q8NBM4 2 |
| Abnormality of the common coagulation pathway 0.3368251174366189 0.2961793346758559 0.7670931297579202 1.0 0.9729344051168306 14 P49257,Q10469 2 |
| Duplication involving bones of the feet 0.315793147211899 0.2960138889164366 0.7672194746552741 1.0 0.9729344051168306 19 Q14739,Q9UBM7,O75845,Q10713,P21964,O95202,Q96J42 7 |
| Rhabdomyosarcoma 0.3798639518918703 0.2956778455639928 0.7674761177623237 1.0 0.9729344051168306 7 P21359 1 |
| Neoplasm of striated muscle 0.3798639518918703 0.2956778455639928 0.7674761177623237 1.0 0.9729344051168306 7 P21359 1 |
| Abnormality of the gallbladder 0.2798695029383176 0.2954246873413902 0.7676694766624967 1.0 0.9729344051168306 38 Q9UBM7,O43681,P22830,Q9NZJ7,O75845,O43709,Q9Y223,P21964,P04062,O95202,P40855 11 |
| Abnormality of the axillary hair 0.3570684031234451 0.2938627741253628 0.7688627647324917 1.0 0.9730694708521664 5 Q8IY37 1 |
| Decreased head circumference 0.2357317549709001 0.2936367720254418 0.7690354737971623 1.0 0.9730694708521664 459 Q07020,P36543,Q99720,P00374,Q00839,P04637,O43772,Q9BUB7,Q15392,Q9Y4A5,Q10469,P03886,O95298,O95470,Q8WVX9,Q8IWS0,Q15427,O96011,Q15800,Q14139,P22695,Q9Y5U9,P29084,P18074,P22570,P53597,P48449,O75340,Q9UBM7,Q96JM3,P46977,P62266,O75845,P51648,Q8TCJ2,P04062,Q9NXE4,P23786,Q96HY7,P62857,Q96DP5,Q00535,P49914,Q06136,P26640,O95319,O43676,P51572,P49711,Q7KZN9,P51530,Q9H5K3,Q2TAA5,Q8N183,Q03164,Q9H936,Q86XL3,Q92917,Q8ND04,Q12756,Q8NFG4,Q9NZJ7,Q9Y375,Q96J42,Q13409,O75306,Q86Y39,Q7RTS9,Q9Y320,Q10713,P40855,Q14004,O75962,P16435,Q6KC79,O43505,P60866,O43709,P78527,Q15043,Q9UG56,P27635,P18077,Q969G3,Q8NI27,Q00534,O95453,P21964,O60885,O95202,O15111,Q5MNZ6,P35222,P21359,Q9BPX6,P61981,Q7Z2Z2 97 |
| Abnormal neuron morphology 0.2939386976498251 0.2934265998022903 0.7691960960777338 1.0 0.9730694708521664 30 Q99720 1 |
| Biconcave vertebral bodies 0.3565789502052634 0.2922212264810348 0.7701174832017803 1.0 0.973289658539382 5 Q96AY3 1 |
| Craniosynostosis 0.2772191999041927 0.2921535644016755 0.7701692137150218 1.0 0.973289658539382 39 P29084,Q9NX62,Q8NCH0 3 |
| Severe muscular hypotonia 0.2954051936000176 0.2920870638987097 0.7702200571505453 1.0 0.973289658539382 29 O96011,O95831,P40855,Q12756 4 |
| Abnormal abdomen morphology 0.2401653116741774 0.2898078154962186 0.7719632684444784 1.0 0.97439478077013 223 O75306,P10644,O43676,Q86Y39,Q9Y2R9,P00374,P16930,P04637,Q16134,O43772,Q15392,O75880,P09601,Q6NUQ1,P03886,Q10713,P03915,Q9NZ08,Q8N183,P40855,Q86SX6,O95453,O96011,P39210,P21964,Q6KC79,P23458,Q9UJW0,O75340,Q9H0U3,Q9Y375,P35610,P35222,P10619,Q9NZJ7,O75845,Q9NVI7,Q8NBM4,P23786,P11310,Q7Z2Z2 41 |
| Retinopathy 0.2949417486062555 0.2893277893845615 0.7723305484019551 1.0 0.97439478077013 29 Q9Y375,Q5JRA6,O75306,P51648,Q9Y6B6,P18074,Q8NBM4,O95202,Q9NZ08,O43819 10 |
| Abnormality of peripheral nerves 0.2727426419948336 0.2891386871890345 0.7724752492217244 1.0 0.97439478077013 46 Q12756,P39210,O95831,Q8TB36,Q9NZJ7,Q99720,Q92734,O15269 8 |
| High myopia 0.3665716043766053 0.2888056724532968 0.7727300910122321 1.0 0.97439478077013 10 P27635,Q7Z2Z2,O15460,P36543 4 |
| Transient ischemic attack 0.3777169751852344 0.288638910217966 0.7728577161585481 1.0 0.97439478077013 7 O75844 1 |
| Death in childhood 0.3050133517816142 0.2865647908820025 0.7744455769845104 1.0 0.9746214846116452 23 Q6NUQ1,Q9H936,Q8TCJ2 3 |
| Progressive psychomotor deterioration 0.3717130868030701 0.2844075260223873 0.7760980921111968 1.0 0.9757278955673944 8 Q10713,Q9NZJ7 2 |
| Hiatus hernia 0.3686379776640734 0.2839810649248446 0.7764248915321472 1.0 0.9757278955673944 9 Q8NCH0 1 |
| Round face 0.3155531891231053 0.2831985600824095 0.7770246320814254 1.0 0.9757278955673944 18 Q8WWQ0,Q32P28,Q03164,P10644,Q15022,O75718 6 |
| Short nose 0.2431254216006591 0.2790599682920358 0.7801988038601622 1.0 0.976975195622824 96 P42345,P10644,P36543,Q8NCH0,Q9NX62,P49711,Q969G3,Q15392,Q9Y4A5,Q03164,O75844,O75962,P16435,O60885,Q6KC79,P38435,Q12756,O75845,O43709,Q96GW9,Q9NVI7 21 |
| Abnormality of the intrinsic pathway 0.3322261969437667 0.2770298545627144 0.7817571822989073 1.0 0.976975195622824 14 P49257,Q10469 2 |
| Enlarged kidney 0.3778501726006947 0.2760258421780168 0.7825282178004749 1.0 0.976975195622824 6 P23786 1 |
| Abnormality of femur morphology 0.2466831013933601 0.274883357199057 0.7834058538223525 1.0 0.976975195622824 69 O14802,Q32P28,Q7RTS9,P50542,O00116,P04637,Q99575,Q6NUQ1,O95831,Q10469,Q14739,O75844,Q96AY3,P16435,P29084,P53597,Q9NZJ7,P04062,Q7Z2Z2 19 |
| Abnormal megakaryocyte morphology 0.3509199124376415 0.2735453031918378 0.784434072796226 1.0 0.9775025622932574 5 P04637 1 |
| Abnormality of the female genitalia 0.2278237458771023 0.2719109685139145 0.7856904772367657 1.0 0.97792834035388 126 P10644,P48735,Q13363,P49711,P50542,Q06787,P04637,Q9H1A4,Q15392,Q14781,O00170,P40855,O95453,Q15427,O96011,Q96RR1,O75844,P16435,P21964,Q9UIG0,O60885,Q6KC79,O95202,P22570,Q9UBM7,Q8NFG4,P60866,P35222,Q8IY37,O43709,Q5JTZ9 31 |
| Abnormal renal insterstitial morphology 0.3474544863905675 0.2711576903537216 0.786269752480073 1.0 0.97792834035388 12 O43709,P23786 2 |
| Polymicrogyria 0.2424316429257262 0.2697649009660297 0.7873411269829718 1.0 0.9782058281485304 73 O14802,Q15427,O96011,Q12756,Q15392,Q9Y320,Q14139,P42345,Q9H5K3,Q96JM3,Q9Y4A5,P36543,Q10713,P23786,Q15022,O43505,P40855 17 |
| Abnormal blistering of the skin 0.3039742299052526 0.2662508640814501 0.7900460123775868 1.0 0.9792747625929012 21 P36551,Q06136,Q8NBM4,Q9NZ08,O95453 5 |
| Micronodular cirrhosis 0.3704299771796986 0.2653084557990096 0.7907718510680346 1.0 0.9792747625929012 7 P04637,P35222 2 |
| Abnormal femoral neck morphology 0.2788633231918497 0.2639984319586165 0.7917811270194641 1.0 0.9802596930567912 36 O75844,Q96AY3,O95831,Q10469,P29084 5 |
| Speech articulation difficulties 0.3477455576963854 0.263318620283504 0.7923050090527655 1.0 0.9806433148243576 5 P21359 1 |
| Patellar dislocation 0.3061599524596416 0.262490880164709 0.7929430155109658 1.0 0.9810202457755536 20 O43709,Q9NX62 2 |
| Natal tooth 0.3692329266985142 0.2615604041351296 0.7936603743656989 1.0 0.9810202457755536 7 O75844 1 |
| Aplasia hypoplasia of the 5th finger 0.319164298790314 0.2613286733887439 0.7938390564468176 1.0 0.9810202457755536 15 O00443,Q96GM5,P51532,O75147,Q969G3,Q8TAQ2,Q9UQE7,Q9NZN8,P21281,P13073 10 |
| Orthostatic hypotension due to autonomic dysfunction 0.3617576067347839 0.2607968750060274 0.794249154460132 1.0 0.9810202457755536 9 Q9NZJ7,O43681 2 |
| Prenatal maternal abnormality 0.3281255494150358 0.2603889524852367 0.7945637637640202 1.0 0.9810202457755536 14 O43772,Q14739,P16435 3 |
| Abnormal auditory evoked potentials 0.3688422060746391 0.2603422771412989 0.7945997641470732 1.0 0.9810202457755536 7 Q9NSV4,Q9NZJ7,P07196 3 |
| Abnormality of skin physiology 0.2415322009786494 0.259642480304932 0.7951395652096191 1.0 0.9810202457755536 95 P48449,Q06136,Q9UBM7,Q15800,P22830,Q8NCH0,Q8NBM4,P29084,Q9NZ08,P16615,Q8ND04 11 |
| Cerebral inclusion bodies 0.3362293409370677 0.2587371710512929 0.7958380375188283 1.0 0.9810202457755536 13 O96008,P09651,Q9Y287,P04062,Q709C8,Q96QK1 6 |
| Stomach cancer 0.3611178594942452 0.2586851164463657 0.7958782041339776 1.0 0.9810202457755536 9 P04637,P10644,P60866,P20585 4 |
| Abnormal cardiac ventricle morphology 0.2394444651563492 0.2564036945939134 0.7976391353207983 1.0 0.9810202457755536 196 Q07020,O75306,P36543,Q9UI09,P27635,P18077,O43772,Q7KZN9,Q96DA6,O75880,Q969G3,Q10469,P03886,P12235,P03915,O95298,Q8N183,P40855,Q86SX6,Q15427,Q14739,O96011,Q15233,Q14004,Q96RR1,O75844,Q9H936,Q9P0J0,P21964,O60885,Q6KC79,P29084,Q8ND04,O95202,P00403,Q9UBM7,P60866,P21359,O43709,P23786,P62857,Q96DP5 42 |
| Vocal cord paralysis 0.3045424623229472 0.2547811792544093 0.7988921124484971 1.0 0.9812143133865836 20 O95140,P21359,Q8TB36,Q8WXH0,Q9BTV4,Q9NR77,P50402 7 |
| Neoplasm of the skin 0.2671068621701638 0.2527112018100021 0.8004913910068157 1.0 0.9814474260644568 42 P04637,Q06136,Q969G3,P60866,Q8NFG4,P35222,P21359,P10644,O60885,P29084,P16615 11 |
| Immunologic hypersensitivity 0.2809226747741959 0.2524214098619226 0.8007153531468247 1.0 0.9814474260644568 33 Q6P1M0,P42345,Q5JRA6,P23458,P18074,Q8NBM4,P21964,Q9NZ08,P50542,O14646 10 |
| Abnormal peripheral nervous system physiology 0.2655391336153377 0.2523935494432223 0.8007368855920185 1.0 0.9814474260644568 51 Q12756,P39210,O43681,O95831,Q8TB36,Q9NZJ7,Q99720,Q92734,O15269 9 |
| Abnormality of bone mineral density 0.2338401754558725 0.2518465139059471 0.8011597028825266 1.0 0.9814474260644568 146 O14802,Q32P28,Q15043,P10644,Q13363,P49711,O75718,P16930,P27635,Q9H1A4,Q13126,Q15392,Q93008,Q5JRA6,O95831,Q10469,P12235,O95453,Q14739,Q96RR1,O75844,Q96AY3,Q9Y5U9,O43292,O95202,P29084,P18074,Q12756,P35222,P21359,Q9NZJ7,O75845,O43709,P04062,Q9Y375,Q7Z2Z2 36 |
| Ankle flexion contracture 0.3168436850452006 0.2516433079640272 0.8013167806241961 1.0 0.9814474260644568 15 P27635,Q96AY3,P49902 3 |
| Excessive daytime somnolence 0.3121463620218924 0.2514394939331391 0.8014743364858132 1.0 0.9814474260644568 16 Q96RR1,Q969G3,P35610,Q9UBM7,P35222 5 |
| Aplasia hypoplasia of the vagina 0.2864746399498997 0.2511424810162188 0.8017039530241397 1.0 0.9814474260644568 3 P30153,Q8IY37 2 |
| Periventricular heterotopia 0.3553931711770389 0.2502826176426255 0.8023687978946412 1.0 0.9814474260644568 10 Q9UBM7 1 |
| Hypokinesia 0.3254530797699388 0.2497700383303391 0.8027651914361538 1.0 0.9814474260644568 14 Q96RR1,O95831,Q2TAA5,P12235 4 |
| Schizophrenia 0.3098782199215619 0.248491133514539 0.8037544294235273 1.0 0.9814474260644568 17 P16615,P21964,Q9NZJ7,O43681 4 |
| Abnormal anatomic location of the heart 0.3410255749932641 0.2475779189840227 0.8044609970216363 1.0 0.9814474260644568 12 O75844,Q96J42 2 |
| Macrodontia 0.2974254630117163 0.2474295462770902 0.804575810283185 1.0 0.9814474260644568 23 Q10469 1 |
| Intermittent diarrhea 0.3679626602333517 0.2461557493716074 0.8055616686370368 1.0 0.9814474260644568 6 P04637 1 |
| Adult onset 0.2413167766859304 0.244652789348909 0.8067252858533633 1.0 0.9814474260644568 70 P36551,Q96RR1,Q969G3,Q9H0U3,Q9H269,P42345,P41440,Q9NZJ7,P26358,Q8IV08,Q9Y223,P04062,Q92734,P12235,P38435,Q06787,O95453 17 |
| Increased muscle glycogen content 0.2845961177207174 0.2444551168192987 0.8068783591850273 1.0 0.9814474260644568 3 Q9BUK6,O75648 2 |
| Aplasia hypoplasia of the radius 0.3048304506567345 0.2442679922138743 0.8070232712478909 1.0 0.9814474260644568 19 Q9UBM7,Q96AY3,O75962,P10644,Q6KC79 5 |
| Abnormality of dental eruption 0.2579825033894453 0.2436009883123291 0.8075398627895551 1.0 0.9814474260644568 59 O14802,P10644,O75147,O60488,Q9H1A4,Q969G3,Q93008,Q8TAQ2,P61586,Q5JRA6,P07237,O75844,O75962,O60885,Q6KC79,P51532,Q9UBM7,Q08J23,Q96L73,Q7Z2Z2 20 |
| Anosmia 0.3166301284058984 0.2434782007627595 0.8076349703534311 1.0 0.9814474260644568 4 A6NHR9,O95140,Q8WWQ0 3 |
| Duplication of thumb phalanx 0.2980813399721531 0.2432863392321953 0.8077835862494018 1.0 0.9814474260644568 22 P18077,P62857,P60866 3 |
| Emotional lability 0.2594801493186883 0.2411869921284452 0.8094101921377979 1.0 0.9821261853106924 57 O75489,Q7KZN9,Q9Y276,Q969G3,O43681,Q96CU9,O75306,P10644,Q15165,Q9NZJ7,O00170,Q9P0J0,Q9UI09,Q8N183,Q96DP5 15 |
| Intracranial hemorrhage 0.2921945550091097 0.2406927449883956 0.8097932623535129 1.0 0.9821261853106924 25 O75844,P49257,Q969G3,P23786 4 |
| High pitched voice 0.3454446438308933 0.2383990984371627 0.811571566614653 1.0 0.9825862037814436 11 O75844 1 |
| Abnormal fear anxiety related behavior 0.2308876513873087 0.2381853854375485 0.8117373117104854 1.0 0.9825862037814436 115 P36551,Q8WWQ0,P10644,Q709C8,Q9HCK8,Q6DKK2,Q06787,P04637,O60488,Q15165,P03886,O00170,Q96PZ0,Q8NI27,P12235,P03915,Q9BPU6,Q5UCC4,Q96RR1,Q15233,P09651,O75648,Q03164,Q12830,P21964,Q9UIG0,O60885,P30038,Q6KC79,Q9Y296,P31930,P00403,P60866,P21359,Q02978,O43709,P61981,Q4G0J3,Q96L73 39 |
| Decreased muscle mass 0.3053423151726792 0.2368236291394918 0.8127936195327892 1.0 0.9825862037814436 18 O95202,P36543,Q8NCH0 3 |
| Mildly elevated creatine kinase 0.2913922306570898 0.2365297336599661 0.8130216376097006 1.0 0.9825862037814436 25 P40939,Q96RR1,O75340,P39210,O75648,Q9BPX6,Q969X5,Q9Y223,Q92734 9 |
| Abnormal cns myelination 0.2316594629302006 0.2358795509776749 0.813526136523758 1.0 0.9826540574334236 143 P40855,Q7KZN9,O75340,O95831,Q8TB36,O43676,P03886,Q9NZJ7,Q99720,O75306,Q86Y39,P29084,Q9Y375,Q8N183,P51572,Q96DP5,Q86SX6 17 |
| Hyperintensity of cerebral white matter on mri 0.2973004706387038 0.2340106464532871 0.8149767134442816 1.0 0.9829490131618052 21 Q15043,O75340,Q9NZJ7,O43681 4 |
| Abnormality of the pituitary gland 0.2544994727176601 0.23337990870155 0.815466413003727 1.0 0.9831711339297774 61 O14802,P42356,P62070,P10644,P48735,Q4J6C6,Q06787,P04637,Q969G3,Q14781,O00170,Q8NI27,Q15233,Q03164,P16435,P60866,P35222,Q8IY37,Q96GW9,Q7Z2Z2 20 |
| Malabsorption 0.2597950318556977 0.2329044857298411 0.8158355751140549 1.0 0.9831711339297774 55 P40855,Q14739,O96011,P60866,P35222,P42345,P09601,Q9Y6B6,P18074,O43709,Q8NBM4,Q9NZ08,Q9UJW0,O95453,Q7Z2Z2 15 |
| Macular purpura 0.3368840470025135 0.2328732935904363 0.8158597969890617 1.0 0.9831711339297774 12 P38435,P04062,P10644,Q8NCH0 4 |
| Abnormality of exocrine pancreas physiology 0.307295745892325 0.2310081198245205 0.8173084939218036 1.0 0.9831711339297774 16 P09601,Q9UJW0,Q7Z2Z2 3 |
| Slender long bone 0.3285780273758827 0.2301820374236853 0.8179503191925603 1.0 0.9831711339297774 13 Q32P28,Q10469 2 |
| Abnormality of neuronal migration 0.2303789385742727 0.2281716829843921 0.8195127745260584 1.0 0.9843418487473165 141 O14802,Q00535,P78527,Q13409,P42345,P36543,P50542,Q06787,Q16134,Q969G3,Q15392,Q9Y320,Q93008,Q8TAQ2,Q9H5K3,Q9Y4A5,Q10713,Q2TAA5,Q8NI27,Q15022,Q00534,P40855,Q15427,O96011,Q14139,Q9Y5U9,Q9H936,Q86XL3,O43505,Q12756,Q96JM3,Q9UBM7,Q9NXE4,P23786 34 |
| Adenocarcinoma of the colon 0.2958233776439865 0.2270849018239588 0.8203577239932645 1.0 0.9847568577470712 21 P18077,P62857,P60866 3 |
| Cystic hygroma 0.3531733027470745 0.2254238497411847 0.8216495596588005 1.0 0.9847568577470712 8 Q99567,Q14739,P62070,Q96S52,Q02750 5 |
| Abnormal growth hormone level 0.2848966032835876 0.2247983393565145 0.8221361580194695 1.0 0.9848438891621462 28 O14802,Q969G3,Q03164,P10644,O00170,Q96GW9,Q8NI27,Q4J6C6,Q7Z2Z2 9 |
| Abnormality of the coagulation cascade 0.26316356634385 0.223553682976927 0.8231046071083941 1.0 0.9852075054869204 43 P40939,Q9Y276,O75648,Q6NUQ1,P49257,Q4KMQ2,P10644,Q10469,P36543,Q9Y223,P38435,Q02750,Q7Z2Z2 13 |
| Persistence of hemoglobin f 0.2977131134028137 0.2231907147881968 0.8233870782152093 1.0 0.9852075054869204 20 P18077,P62857,P60866 3 |
| Stroke 0.2747975680865969 0.2220030872366129 0.8243114800315909 1.0 0.9852075054869204 34 P04637,P00403,O75844,P21359,P03886,O43709,P03915 7 |
| Abnormality of skeletal maturation 0.2383153832555051 0.2216615399958765 0.8245773719375309 1.0 0.9852075054869204 92 P62070,Q8WWQ0,P10644,Q13363,O75147,Q06787,P04637,Q9H1A4,Q969G3,Q99575,Q8TAQ2,O95831,O00170,Q15022,Q15800,Q03164,P16435,Q9UIG0,O60885,Q6KC79,P29084,P18074,O95202,P48449,P51532,Q8IY37,O43709,P04062,P13073,Q7Z2Z2 30 |
| Abnormality of the scrotum 0.2630892814326027 0.2204415942552961 0.8255272544943144 1.0 0.9852718687763626 47 Q9Y5U9,P46977,Q9UBM7 3 |
| Aplasia hypoplasia of the phalanges of the hand 0.2589188455386981 0.2191631301220528 0.8265229751816856 1.0 0.9859745566994228 53 Q8IWS0,Q969G3,Q93008,Q03164,O75844,P42345,Q5JRA6,O75962,P10644,P16435,Q7RTS9,O60885,Q6KC79,O15111,P38435 15 |
| Turricephaly 0.3479163927596548 0.2168428915737933 0.8283307844807968 1.0 0.9870488025194112 9 P50542,P21964,P16435,P07237 4 |
| Delayed cranial suture closure 0.2832394635119444 0.2159677815733149 0.829012861494905 1.0 0.9870488025194112 28 O14802,Q32P28,O75844,P16435,Q8NCH0,P36543,P40855 7 |
| Type ii diabetes mellitus 0.2656784055914477 0.215062955790003 0.8297182350996812 1.0 0.9873052646286816 39 O14802,P00403,P35222,P03886,O43709,O00170,Q92620,P03915,O43395,Q86SX6 10 |
| Hypoplasia of the brainstem 0.2828266905000577 0.2137874285192804 0.8307128289059849 1.0 0.9874085323827568 28 Q9Y320,Q13409,Q9H5K3,Q9UGM6,Q10713,O43505 6 |
| Relative macrocephaly 0.2741438911810132 0.2123136335362273 0.8318623598585388 1.0 0.9874085323827568 33 O14802,Q15233,Q15392,Q93008,Q99575,O75648,O75844,Q12830,P21359,Q96PZ0,Q9BPU6,O75147 12 |
| Acute lymphoblastic leukemia 0.3308026753987405 0.2119934199379835 0.8321121677907541 1.0 0.9874085323827568 12 P04637,O43684,Q9BYW2,Q08J23,P35658,Q96L73 6 |
| Loss of ability to walk 0.3305497608947572 0.2111437608629486 0.8327750936549552 1.0 0.9874085323827568 12 Q9H269,P37198,Q96RR1,P55265 4 |
| Abnormal hemoglobin 0.2907800821882658 0.2086004456462603 0.8347601626530072 1.0 0.9874085323827568 22 P18077,P62857,P60866 3 |
| Difficulty walking 0.2368912516272264 0.20844792655384 0.8348792380954975 1.0 0.9874085323827568 79 O75298,O75340,O14653,Q969G3,O43681,P51530,Q93008,O43292,Q9NZJ7,Q15041,Q9BPX6,Q99720,Q7RTS9,P61981,Q9UGM6 15 |
| Abnormality of the abdominal organs 0.2213871298381751 0.2082346873726833 0.8350457255648407 1.0 0.9874085323827568 356 Q8N511,P22830,O75306,Q86Y39,O43676,Q8NCH0,P10644,Q9Y2R9,P00374,P49711,P16930,Q16134,P04637,O43772,Q7KZN9,Q9Y276,Q969G3,Q15392,O75880,Q93008,P09601,Q6NUQ1,Q9BUB7,P03886,Q9NQH7,Q10713,P12235,P03915,Q9NZ08,Q8N183,P40855,Q86SX6,O95453,O96011,Q96RR1,P39210,O43681,Q9Y5U9,Q9Y6B6,P21964,O60885,O95202,P23458,Q9UJW0,P00403,O75340,Q9H0U3,Q9UBM7,Q9Y375,P60866,P35610,P35222,P10619,Q9NZJ7,O75845,O43709,Q9NVI7,Q8NBM4,P23786,P11310,Q96J42,Q7Z2Z2 62 |
| Irregular epiphyses 0.3291388900167309 0.2071624032432072 0.8358830282292233 1.0 0.9874085323827568 5 Q7RTS9 1 |
| Avascular necrosis 0.2936956227476273 0.2053566255730801 0.8372935058212678 1.0 0.9874085323827568 20 Q8IWS0,O75844,Q8NBM4,Q9NZ08,O95453 5 |
| Female reproductive system neoplasm 0.2959698501698298 0.2052623165583136 0.837367184203814 1.0 0.9874085323827568 19 P35222,P10644,P60866,Q8NFG4 4 |
| Colorectal polyposis 0.3530620255573552 0.2042339221476115 0.8381707039413917 1.0 0.9874085323827568 6 P04637 1 |
| Ventriculomegaly 0.2359525729970917 0.2038768305648174 0.8384497513322966 1.0 0.9874085323827568 177 O14802,P49914,P42345,Q96CU9,O75306,P36543,Q8NCH0,P49711,Q00839,Q969G3,Q15392,Q9Y320,Q93008,Q9H5K3,P05023,Q10713,Q8NI27,Q00534,O95453,Q8WVX9,Q86XL3,O60885,Q6KC79,P29084,P18074,O43505,O43819,O95202,Q12756,O75340,Q5MNZ6,Q96JM3,Q9UBM7,P35222,Q9NZJ7,P26358,P04062,P23786,Q9UGM6,Q96J42 40 |
| Abnormal ovarian physiology 0.284638755994413 0.2025255785754726 0.8395058638937032 1.0 0.9883391234226484 25 Q96RR1,Q9H1A4,O75844,O00170,Q5JTZ9,Q06787 6 |
| Hand tremor 0.3205752928804889 0.2018532059561058 0.8400314852160982 1.0 0.9885984117175856 13 O95140,Q9ULM3,Q15120,Q92734,Q9H2M9,P07196 6 |
| Agyria 0.3271980276558784 0.2016918683418076 0.84015762008474 1.0 0.9885984117175856 5 Q00535,Q9H5K3 2 |
| Abnormality of reproductive system physiology 0.2300690635140913 0.2001310499456173 0.8413780902176768 1.0 0.9895262857744856 147 O14802,P10644,Q9Y2R9,Q709C8,Q4J6C6,O75147,Q06787,P04637,Q9H1A4,Q9Y276,Q969G3,Q14781,P03886,O00170,Q96RD7,P03915,O95470,Q8IWS0,Q96RR1,O75844,Q9Y5U9,P16435,Q13423,O60885,Q6KC79,P18074,O75298,P00403,P48449,P35222,P49257,O43709,Q5JTZ9,P04062,O43395 35 |
| Low anterior hairline 0.2569951174307892 0.1980806580645064 0.8429819576293527 1.0 0.9896541035396492 52 Q96GM5,Q07020,Q9UQE7,P21281,P18077,P62273,Q969G3,Q8TAQ2,Q6NUK1,O95831,O00443,P08708,O60885,Q6KC79,Q9H2M9,P51532,P60866,O15160,Q96N67,Q08J23,Q9NXE4,P62857 22 |
| Abnormal cornea morphology 0.2337419622517178 0.1977517060710718 0.8432393328593482 1.0 0.9896830489655566 163 Q06136,Q8NCH0,P49711,Q93008,Q9H5K3,P61586,Q2TAA5,P12235,Q9NZ08,P40855,O96011,P39210,O75844,P34913,P21964,O60885,Q6KC79,P29084,Q12948,Q8ND04,O43505,O95202,O15111,Q12756,Q9UBM7,P10619,O75845,O43709,Q9NVI7,Q8NBM4,Q96J42 31 |
| Sparse eyebrow 0.2703342000783271 0.1961582308696499 0.8444863198177681 1.0 0.990385543231383 34 P48449,O75844,Q9NVI7,Q92643,P62857 5 |
| Metrorrhagia 0.3248359759620772 0.1951360101924013 0.8452864723557019 1.0 0.9906580223637718 5 P10644 1 |
| Diffuse alveolar hemorrhage 0.3248359759620772 0.1951360101924013 0.8452864723557019 1.0 0.9906580223637718 5 P10644 1 |
| Atrophy degeneration involving the spinal cord 0.3399361759581588 0.1932133245821558 0.8467919038472167 1.0 0.991820169587921 9 Q96RR1 1 |
| Abnormality of the larynx 0.2582553177384447 0.1881240266435305 0.8507794268106914 1.0 0.9932042713524748 47 P04637,P27635,Q15427,Q14739,Q9UBM7,Q15165,P16435,Q9NZJ7,P36543,P21964,Q7Z2Z2 11 |
| Hypotension 0.2795015022777674 0.1881163026515841 0.8507854815745151 1.0 0.9932042713524748 26 O43772,O43681,Q9NZJ7,Q13423,Q06787 5 |
| Pulmonary hypoplasia 0.2815664672635992 0.1876875559945916 0.85112158578892 1.0 0.9932042713524748 25 Q16134,Q9UBM7 2 |
| Abnormal nervous system electrophysiology 0.2350539788584658 0.1875903959750972 0.8511977554899315 1.0 0.9932042713524748 187 O14773,Q99720,Q92734,Q00839,P07196,P27635,Q9Y276,O95831,Q10469,Q8N2K0,P03886,Q2TAA5,P03915,P40855,Q8IWS0,O96011,P39210,Q14139,O43681,Q9Y5U9,Q15067,Q9H936,O43292,P21964,P30038,O95202,P18074,Q9UBX3,O15269,P00403,P48449,O75340,Q12756,Q8NFG4,Q9ULM3,P21359,Q96N67,Q8TB36,Q9NZJ7,Q5JTZ9,P61981,P13073 42 |
| Abnormality of humoral immunity 0.252911144400779 0.1874806879376257 0.8512837640209707 1.0 0.9932042713524748 56 P29084,P09601,Q10469 3 |
| Abnormal globus pallidus morphology 0.3295722974607425 0.1872191252909646 0.851488830142719 1.0 0.9932042713524748 11 Q9H269,O43819,O75306,Q8WWI5 4 |
| Poor motor coordination 0.3293900626701586 0.1866642509599919 0.8519238869852439 1.0 0.9932042713524748 11 Q10713,Q06787 2 |
| Oral aversion 0.3396492946809306 0.1864497296044592 0.8520920974872497 1.0 0.9932042713524748 8 Q8TAQ2,Q969G3,P35610 3 |
| Lower limb hypertonia 0.3342555858753127 0.1842487151312829 0.853818344445306 1.0 0.9947103112759706 10 Q14739,P54886,O60341,P21912,Q9NVV4,Q8WVX9 6 |
| Atonic seizure 0.2839335168330893 0.1831476421782925 0.8546821748712867 1.0 0.994788624314472 23 Q9H936,O43292,O14653,Q12756 4 |
| Wide intermamillary distance 0.2800981001223112 0.1807391462080423 0.8565723305365611 1.0 0.9950910414082694 25 Q9UBM7,P23786 2 |
| Abnormal corpus striatum morphology 0.2930000388139034 0.1793057271661046 0.8576976501032596 1.0 0.9950910414082694 17 O14802,O95831,O75306,P37198,O43819 5 |
| Severe short stature 0.2815842348153086 0.1792819584637751 0.857716312398543 1.0 0.9950910414082694 24 Q7RTS9,Q15392 2 |
| Platyspondyly 0.26729001199585 0.1791638146706703 0.8578090756619989 1.0 0.9950910414082694 34 Q32P28,Q6NUQ1,Q5JRA6,Q96AY3,O95831,Q7RTS9 6 |
| Poor appetite 0.3268892858749197 0.179126861761166 0.8578380904754188 1.0 0.9950910414082694 11 Q70HW3 1 |
| Severe intrauterine growth retardation 0.2645585472761346 0.1789515332558392 0.857975758134973 1.0 0.9950910414082694 3 O14802,Q15813 2 |
| Renal duplication 0.3402956065761683 0.1786850656612124 0.8581849963300647 1.0 0.9950910414082694 7 Q15149,O43709,Q9UIG0 3 |
| Broad based gait 0.2793884574584823 0.1774146736409038 0.8591826822461426 1.0 0.9950910414082694 25 Q03164,O14773,P04062,P61981,P29084 5 |
| Thickened nuchal skin fold 0.3055303473313213 0.1765660797741245 0.85984923982572 1.0 0.9950910414082694 14 O96011 1 |
| Abnormality of the kidney 0.2161534656998696 0.1763214300394908 0.8600414270414121 1.0 0.9950910414082694 334 Q07020,P10644,Q00839,P61619,P16930,Q16134,P04637,O43772,Q9BUB7,Q15392,P09601,Q9Y4A5,P03886,P03915,O95470,Q15427,O96011,P30038,O43819,P53597,Q9UBM7,P49257,O75845,P04062,P23786,P62857,O14802,P36551,Q96CU9,Q92621,O43676,Q8NCH0,Q4J6C6,Q13363,Q12769,P50542,O75718,P51530,Q86U86,Q8TAQ2,O43707,Q9NZ08,Q8N183,Q03164,Q9H936,Q86XL3,Q92917,Q8NFG4,Q8NBM4,O15460,Q9Y375,Q96J42,O75306,Q86Y39,Q5JRA6,Q9NQH7,Q10713,P40855,P16435,Q6KC79,O43505,P00403,P60866,O43709,P18077,Q9Y276,Q969G3,Q93008,P05023,Q00534,P21964,O60885,O95202,O15111,P23458,P35222,P21359 77 |
| Atrioventricular canal defect 0.33126383892194 0.1756640105962202 0.8605579109575157 1.0 0.9950910414082694 10 Q9UBM7 1 |
| Cns hypomyelination 0.2590590074316229 0.1745457754616997 0.861436559239873 1.0 0.9954356301271154 39 P51572,Q99720,O75340 3 |
| Proptosis 0.2516187782625012 0.1744932826048889 0.8614778094915421 1.0 0.9954356301271154 55 Q969G3,Q9UBM7,Q32P28,Q13409,Q15043,O75844,P16435,Q9NX62,O95202,Q12948,Q6KC79 11 |
| Short digit 0.2284796081940678 0.1736814914839712 0.8621157840964835 1.0 0.9954356301271154 149 Q06136,Q07020,P42345,P10644,Q7RTS9,Q9NX62,Q92643,O75147,P27635,P18077,Q969G3,Q93008,Q99575,Q5JRA6,P61586,O95831,Q10469,Q8TC12,Q8IWS0,Q15427,Q03164,O75844,Q9H936,O75962,P16435,O60885,Q6KC79,O95202,P38435,P48449,Q9UBM7,P60866,P62857,P13073 34 |
| Allergy 0.3327563826295747 0.1730692210288392 0.8625970179000799 1.0 0.9954356301271154 9 P42345,P23458,Q6P1M0,O14646 4 |
| Abnormal meningeal morphology 0.2814083246038732 0.1719171121000125 0.8635026933696333 1.0 0.9954356301271154 23 P21359,O75845,Q9NQH7,Q10713,P21964 5 |
| Gastrostomy tube feeding in infancy 0.2668358509077742 0.1718007871390498 0.863594146678796 1.0 0.9954356301271154 33 Q99720,Q12756,Q10469 3 |
| Bruising susceptibility 0.2733694451996235 0.1713467998716256 0.8639510835761479 1.0 0.9954356301271154 29 P49257,Q13126 2 |
| Pseudobulbar paralysis 0.3339604891815552 0.1711331852105978 0.8641190427304164 1.0 0.9954356301271154 8 P42356,Q15233,P54886,O94979,P08397,Q14203,P54136 7 |
| Poor wound healing 0.3399437139003027 0.170571882727579 0.86456040821086 1.0 0.9955807465247952 6 P04062,O15269 2 |
| Paresthesia 0.2777726851071514 0.1699275938611488 0.8650670799414759 1.0 0.9956868109279644 25 P60866,Q9H6K4,Q8NBM4,O15460,Q9NZ08,P07196 6 |
| Attenuation of retinal blood vessels 0.332894374709042 0.1683354301482011 0.8663194023163812 1.0 0.9958619062071894 8 Q96S66 1 |
| Mild global developmental delay 0.2911870932127647 0.1683271992313684 0.8663258772499078 1.0 0.9958619062071894 16 Q15233,P30038,P35222,P10644,Q96HY7 5 |
| Aplasia of the fingers 0.2714042604183233 0.16811112513624 0.866495857318069 1.0 0.9958619062071894 30 P18077,P60866,Q07020,O75962,Q6KC79,P62857 6 |
| Abnormality of skull ossification 0.3085440323162662 0.162368107692256 0.8710159839280693 1.0 0.9979328018868148 13 Q14739,Q32P28,O75844,Q6NUK1,O75718 5 |
| Hypoplasia of penis 0.2297463145492281 0.1614799415952074 0.8717154083148717 1.0 0.9979328018868148 102 P78527,Q96DA6,Q9H5K3,Q9Y4A5,Q10713,Q8NI27,Q15022,O95470,Q8IWS0,Q9H936,P16435,O60885,Q6KC79,O43505,P48449,Q9UBM7,P46977,O75845,O43709,Q9NVI7,Q8TCJ2,O43395 22 |
| Abdominal pain 0.2319883252937393 0.161107272953862 0.8720089120870724 1.0 0.9979328018868148 85 P36551,P10644,Q92621,Q12769,P04637,O43707,Q9NZ08,Q9Y223,Q13423,Q9UIG0,P30038,Q70HW3,P60866,P35222,P21359,O43709,P04062,Q8NBM4,O15460,P23786 20 |
| Abnormalities of placenta or umbilical cord 0.3005719943911859 0.1600627619289793 0.8728316345891294 1.0 0.9979328018868148 14 O75844,P16435 2 |
| Decreased facial expression 0.2693920817489486 0.1581218822051541 0.8743607580151922 1.0 0.9979328018868148 30 Q96RR1,Q15043,P51530,Q969X5,P12235,Q06787 6 |
| Tetraplegia tetraparesis 0.2530473912323197 0.1556874651052987 0.8762793780812195 1.0 0.9979328018868148 48 O95831,Q9NZJ7,Q7RTS9,Q13423,Q92734,P51572,Q9UBX3 7 |
| Tall stature 0.2486760989025341 0.1549051254971366 0.8768961128632249 1.0 0.9979328018868148 55 O14802,P10644,Q8NCH0,P36543,Q9HCK8,Q13363,P51530,O00170,Q96PZ0,Q9NSD9,Q15022,Q9BPU6,Q15233,O75648,Q12830,P16435,Q13423,O95202,Q9Y296,Q9NWM8,P21359 21 |
| Cerebellar malformation 0.2438034219743728 0.1542184631328759 0.8774374848650817 1.0 0.9979328018868148 61 Q15233,Q969G3,Q9UBM7,Q15043,Q9H5K3,P16435,O75845,O43709,P23786,O43505,Q96J42 11 |
| Incoordination 0.2283423811946642 0.1533683712411978 0.8781077858628277 1.0 0.9979328018868148 71 P27635,Q96RR1,O75340,O43681,Q15067,O14773,Q9NZJ7,P37198,Q7RTS9,O15020,Q10713,P04062,P61981,P12235,Q6DKK2,O43819,Q96DP5,Q8TC12 18 |
| Abnormal fingertip morphology 0.2706540615155174 0.1530652619690983 0.8783468099480063 1.0 0.9979328018868148 28 O75648,O75844,Q12830,P62266,Q86TI2,Q96PZ0,Q9Y296,Q9BPU6,P49711,Q9H2M9,O95453,O14646 12 |
| Bilateral polymicrogyria 0.3250121404893336 0.1525568278019551 0.8787477727947137 1.0 0.9979328018868148 9 Q12756,Q96JM3 2 |
| Abnormality of the humerus 0.2904445066956933 0.15243517353642 0.8788437167540646 1.0 0.9979328018868148 15 O14802,P16435,Q7RTS9,P53597,O00116 5 |
| Atrophy degeneration involving the corticospinal tracts 0.3051850711415024 0.1520326202058161 0.8791612074924786 1.0 0.9979328018868148 13 O75298 1 |
| Abnormality of the thoracic cavity 0.2979555083191466 0.1516409827627483 0.8794701076023628 1.0 0.9979328018868148 14 Q9H0U3,Q969G3,O60885,O15460 4 |
| Abnormality of the nasal septum 0.3317467569824428 0.151141702960796 0.8798639361403555 1.0 0.9979328018868148 6 Q15233 1 |
| Shuffling gait 0.3170404158503975 0.1508593688005834 0.8800866525814874 1.0 0.9979328018868148 11 O75844 1 |
| Medulloblastoma 0.3074390386919851 0.1503764018886124 0.8804676581194035 1.0 0.9979328018868148 5 P35222 1 |
| Skin ulcer 0.2676080558078469 0.1494406907822249 0.8812059055995773 1.0 0.9979328018868148 30 Q14739,Q12756,P39210,P48735,O15460,O15269,O95453 7 |
| Tube feeding 0.2364443145117974 0.1480948661910284 0.882267900957515 1.0 0.9979328018868148 66 Q12756,Q15233,Q10469,Q9NZJ7,Q99720,Q92734,P49711 7 |
| Male hypogonadism 0.3248853160217478 0.1480607013728353 0.882294863309959 1.0 0.9979328018868148 8 O00170,Q9H1A4,O76024,Q8WWQ0 4 |
| Abnormal urine metabolite level 0.2283922763160771 0.147699743115026 0.8825797343777779 1.0 0.9979328018868148 157 P36551,Q92621,Q9H6K4,Q4J6C6,Q12769,P16930,P04637,Q16134,Q9BUB7,Q96DA6,Q9Y276,P09601,Q5JRA6,P03886,P03915,O95470,Q9Y5U9,Q7Z4W1,P23786,P30038,P18074,Q6KC79,O15111,P53597,Q9H0P0,P00403,P35610,P21359,O14678,O43709,Q9NVI7,P04062,Q96HY7,P11310 34 |
| Abnormal blood potassium concentration 0.3209583373849937 0.1476005453199925 0.8826580247120808 1.0 0.9979328018868148 10 P04637,Q13423,P05023 3 |
| Fetal akinesia sequence 0.3276207814080066 0.1473328187914735 0.8828693294774168 1.0 0.9979328018868148 7 Q96S52,Q99567,P04062,Q9H3H5 4 |
| Triangular face 0.2501091147633734 0.1468645237295419 0.8832389541899095 1.0 0.9979328018868148 41 O14802,Q02750,Q15233,P62070,Q8NFG4,Q96AY3,Q12830,Q6NUK1,P36543,P04062,Q4G0J3,Q9NVI1,O75381,O75147,P40855,Q5UCC4 16 |
| Immunodeficiency 0.2413054825501844 0.144805611711604 0.8848643514239805 1.0 0.9979328018868148 62 Q9H0U3,P78527,P09601,Q10469,Q13432,P21964,O95202,Q9UJW0,O95453,O14646 10 |
| Colon cancer 0.2956784626212866 0.1444748814214796 0.885125490063499 1.0 0.9979328018868148 14 P04637,P10644,Q8NFG4,P20585 4 |
| Congestive heart failure 0.2342825279695978 0.143759822502997 0.8856901302350193 1.0 0.9979328018868148 67 P00403,Q9BUB7,Q96DA6,O75880,P21359,O75533,O75306,P10644,P03886,O43709,P03915,Q9Y375,Q70HW3,O43819 14 |
| Focal onset seizure 0.2297365638444987 0.1437134898652089 0.8857267184124309 1.0 0.9979328018868148 83 P27635,P00403,Q12756,P42345,Q9H936,Q9UGM6,Q9ULM3,Q96N67,Q9NZJ7,P03886,P03915,Q9UBX3 12 |
| Unsteady gait 0.2485847254824311 0.1429475195824948 0.8863316287109906 1.0 0.9979328018868148 52 Q12756,O95831,Q10469,Q9H6K4,P18887,Q96DP5,Q86SX6 7 |
| Infertility 0.319142149373583 0.1429003695968236 0.8863688666730154 1.0 0.9979328018868148 10 Q02750,Q96RD7,Q8IY37 3 |
| Oromotor apraxia 0.28124021296587 0.1427885175809564 0.8864572057970288 1.0 0.9979328018868148 4 P42356,Q8N3U4,Q14683 3 |
| Fetal ultrasound soft marker 0.2814726171346574 0.1416360029456795 0.8873675273601478 1.0 0.9979328018868148 18 O96011,P40855 2 |
| Delayed eruption of teeth 0.2505701209277681 0.1415368515430954 0.8874458497326132 1.0 0.9979328018868148 49 O14802,O60488,Q9H1A4,Q969G3,Q93008,P51532,O75844,Q8TAQ2,Q5JRA6,O75962,P10644,Q08J23,Q96L73,O60885,Q6KC79,O75147,P07237,Q7Z2Z2 18 |
| Spinal rigidity 0.3133995823671624 0.140991163812744 0.8878769228686827 1.0 0.9979328018868148 11 Q8WXH0,Q9BTV4,P50402,P53007 4 |
| Gastroesophageal reflux 0.2161748115719429 0.1398554777417771 0.8887741790823829 1.0 0.9979328018868148 125 P29372,P49711,Q06787,P27635,Q93008,Q10469,P12235,O95453,Q96RR1,Q15233,Q03164,P16435,P21964,O60885,Q6KC79,O95202,O15269,Q12756,Q9UBM7,Q8NFG4,O14678,Q9NZJ7,O43709,P61981 24 |
| Abnormal odontoid tissue morphology 0.2502078622191554 0.1392740531178198 0.8892335926447648 1.0 0.9979328018868148 45 O00443,Q9H1A4,Q9UBM7,Q5JRA6,P61586,Q96AY3,P21359,P19447,P51648,Q15149,Q6P4Q7,O43709,P21964,Q9UIG0,P29084,P18074,O75147,P07237 18 |
| Addictive behavior 0.3263053899788324 0.1389383713002464 0.8894988490999445 1.0 0.9979328018868148 6 Q14980,P10644 2 |
| Pituitary adenoma 0.3175302425264993 0.138791142033351 0.889615193870938 1.0 0.9979328018868148 10 P48735,P10644,P60866 3 |
| Decreased circulating iga level 0.3239120462958681 0.1387543484624794 0.8896442695727245 1.0 0.9979328018868148 7 P42345,P00813,Q15904 3 |
| Facial edema 0.2664308517231452 0.1381187902721465 0.8901465356138114 1.0 0.9979328018868148 29 Q12756,Q9H1A4,Q92621,O43707,O00170,O43709,Q12769,P50542 8 |
| Abnormality of mouth shape 0.235011721276532 0.1379713717811674 0.890263043136549 1.0 0.9979328018868148 66 O14802,Q12756,Q15233,Q96JM3,P42345,P10644,Q10469,Q86XL3,P62266,O75845,Q10713,P04062,O60885,O95202,P18074,Q6KC79 16 |
| Genital neoplasm 0.2572067130623597 0.1374558337496896 0.8906705008656106 1.0 0.9979328018868148 36 P60866,Q8NFG4,P35222,P10644,P48735,Q13423 6 |
| Pendular nystagmus 0.3230883392833721 0.1368860378265519 0.8911208751447135 1.0 0.9979328018868148 7 P37198,P49902,Q6XZF7,P55265 4 |
| Triangular shaped phalanges of the hand 0.2376126049557266 0.1366839167391046 0.8912806427897619 1.0 0.9979328018868148 64 Q07020,Q9UQE7,P21281,P42858,Q13868,P18077,Q93008,Q96PZ0,Q9NVI1,Q15022,Q9BPU6,Q15427,Q15233,P08708,O75648,O75962,Q12830,O60885,Q6KC79,Q9Y296,P60866,Q08J23,P62857,Q96L73 24 |
| Laryngotracheomalacia 0.3013784461153012 0.136272944813496 0.8916055112504497 1.0 0.9979328018868148 5 P19367,Q8N766,Q9Y4A5,O75369 4 |
| Abnormal morphology of the musculature of the neck 0.2929577114175573 0.1361129338381431 0.8917320029635312 1.0 0.9979328018868148 14 Q99720 1 |
| Glioblastoma multiforme 0.322402908169107 0.1353416253915318 0.8923417755202643 1.0 0.9979328018868148 7 P60866 1 |
| Long toe 0.3158160143641353 0.1344855339285176 0.8930186494253385 1.0 0.9979328018868148 10 Q9Y223,P10644,P23786 3 |
| Cerebellar cyst 0.2537058454277878 0.1343653887574319 0.8931136491805709 1.0 0.9979328018868148 38 O14802,Q969G3,Q93008,Q9UBM7,Q8TAQ2,Q9H5K3,P36543,P23786,Q9BPU6,O43505,Q96J42,Q8WVX9 12 |
| Abnormality of chromosome segregation 0.3004385964912381 0.1341557663713188 0.8932794029623439 1.0 0.9979328018868148 5 P51608,Q14739,Q15645,O60566 4 |
| Ovarian neoplasm 0.2776276242488719 0.1332360437964643 0.8940067061214205 1.0 0.9979328018868148 19 P04637,P35222,Q8IY37,P48735,Q92878 5 |
| Abnormality of the cerebral subcortex 0.2197454485585728 0.1327142225105362 0.8944193944304444 1.0 0.9979328018868148 370 P29372,P37198,Q9UI09,Q00839,Q9BUB7,Q96DA6,Q15392,Q9Y4A5,P03886,Q15022,P03915,O95298,Q8WVX9,Q14139,Q9Y5U9,Q15067,Q9P0J0,P29084,P18074,Q9UBX3,P22570,O43819,P53597,P48449,O75340,Q9H9P8,Q9UBM7,Q96JM3,P26358,P04062,P23786,Q96DP5,O14802,Q00535,P26640,O95319,P51572,Q7KZN9,Q9H5K3,O95831,Q2TAA5,Q8N183,Q86SX6,Q03164,Q9H936,Q86XL3,Q92917,Q8ND04,Q12756,Q8NFG4,Q9NZJ7,Q9UGM6,Q96J42,Q13409,P49902,O75306,Q9Y320,Q9H269,Q10713,P12235,Q15233,Q14004,O43681,O43505,P00403,Q96N67,Q5JTZ9,Q9NVI7,P78527,Q15043,P42345,Q99986,P27635,Q969G3,Q93008,Q8NI27,Q00534,Q96RR1,Q8NI60,O95202,Q9C0E8,Q5MNZ6,P35222,P21359,Q9BPX6,P61981 86 |
| Nail dystrophy 0.2640496570997297 0.1326245496274773 0.8944903161324842 1.0 0.9979328018868148 30 Q12756,Q969G3,O75844,P29084,P16615 5 |
| Cutaneous syndactyly 0.3168621743980832 0.1323592865852898 0.894700115889123 1.0 0.9979328018868148 9 P27635 1 |
| Intellectual disability mild 0.2190899896142643 0.132334211285211 0.8947199486293196 1.0 0.9979328018868148 133 Q7RTS9,Q8WWV3,P16615,Q06787,Q9H269,Q5JRA6,Q9H5K3,O15020,Q10713,Q8NI27,Q6P4A7,Q00534,O96011,Q15233,Q15800,O75962,O43292,P21964,Q12756,Q8NFG4,P35610,P35222,P21359 23 |
| Abnormal circulating proteinogenic amino acid concentration 0.2573500368332169 0.1322064782841963 0.8948209771722713 1.0 0.9979328018868148 35 P41440,O95298,Q86SX6 3 |
| Acute myeloid leukemia 0.2605140426370179 0.1301499508162976 0.8964477911341033 1.0 0.9979328018868148 32 P04637,P18077,P60866,Q07020,P62857,Q7Z2Z2 6 |
| Supraventricular arrhythmia 0.2798110263073001 0.1291308279579735 0.8972541290321678 1.0 0.9979328018868148 16 Q9BTV4,Q96RR1,P50402,P12235 4 |
| Slender build 0.2905484528948702 0.1288917742294549 0.897443285589774 1.0 0.9979328018868148 14 P51530,Q15233,P10644 3 |
| Rickets 0.3213936916997507 0.1284035859707849 0.8978295934559046 1.0 0.9979328018868148 6 P16930 1 |
| Morphological abnormality of the corticospinal tract 0.2825222580163258 0.1268512031354982 0.8990581687938182 1.0 0.9979328018868148 15 O75298 1 |
| Enlarged posterior fossa 0.245916003655394 0.1267220326598774 0.899160406880023 1.0 0.9979328018868148 52 Q969G3,Q9UBM7,Q9H5K3,O43505,Q10713,P23786,Q12948,O95298,Q96J42 9 |
| Pulmonary fibrosis 0.2719173447560244 0.1263951091382746 0.8994191734475687 1.0 0.9979328018868148 21 Q9UJW0,P09601,Q8NI27,O95453 4 |
| Microretrognathia 0.282272725395023 0.1260781523519608 0.8996700613520217 1.0 0.9979328018868148 15 P27635,Q9BUB7,Q8NCH0 3 |
| Abnormal erythrocyte enzyme level 0.2715856640765705 0.1251564389045631 0.900399702722934 1.0 0.9979328018868148 21 P18077,P62857,P60866 3 |
| Focal non motor seizure 0.3116894964160795 0.1243945666164423 0.901002875148009 1.0 0.9979328018868148 10 Q12756,Q96JM3 2 |
| Adducted thumb 0.2673249457460064 0.1243455024044645 0.9010417211274926 1.0 0.9979328018868148 25 Q86XL3,Q92917,Q8NCH0 3 |
| Central nervous system cyst 0.2445600967581092 0.1241867772813961 0.901167391392198 1.0 0.9979328018868148 53 O14802,O95202,P51532,P55265,Q969G3,Q93008,Q9UBM7,P35222,Q8TAQ2,Q9H5K3,P36543,P37198,P23786,Q13363,Q9BPU6,O43505,Q96J42,Q8WVX9 18 |
| Prenatal movement abnormality 0.2367517834666452 0.1224501858030542 0.9025424949887182 1.0 0.9979328018868148 63 Q7KZN9,O95202,Q9UBM7,O95319,P51530,O75844,Q969X5,P04062,Q6KC79,P61981,Q4J6C6,Q13363,O15111,O60885,Q70HW3,Q92917,P40855 17 |
| Abnormality of the forehead 0.2073050147995483 0.1220379238645824 0.902868983825062 1.0 0.9979328018868148 303 P78527,Q13409,P42345,Q8NCH0,Q9NX62,Q92643,P49711,O75147,Q06787,Q16134,P27635,P18077,Q969G3,Q15392,Q93008,O95831,Q10713,Q2TAA5,Q8NI27,P40855,O96011,Q15233,Q03164,Q9Y5U9,Q9H936,O75962,Q86XL3,P16435,O43292,Q92917,Q6KC79,Q8ND04,Q12948,Q14671,Q9UBM7,Q8NFG4,P60866,Q96N67,O75845,O43709,Q9NVI7,P23786,P62857,P13073,Q96J42,O14646 46 |
| Squamous cell carcinoma 0.2942330421076725 0.120478503576244 0.9041041072600956 1.0 0.9979328018868148 13 P29084,P18074,O60885 3 |
| Abnormality of the breast 0.2231090886062567 0.1204014649152223 0.9041651310104974 1.0 0.9979328018868148 108 O14802,P62070,Q8WWQ0,P10644,P48735,Q13363,Q06787,P04637,Q93008,Q9Y4A5,Q10469,O00170,Q2TAA5,Q8IWS0,Q15233,Q15067,Q8NI60,Q9Y223,O60885,Q6KC79,P29084,P18074,O95202,Q9UBM7,P35222,P21359,O14678,Q8IY37,Q92878,Q9NXE4,P23786 31 |
| Neoplasm of the stomach 0.2721640262798862 0.1199014678020058 0.9045612017278536 1.0 0.9979328018868148 20 P35222,P10644,P60866,Q8NFG4 4 |
| Progressive muscle weakness 0.2761630651839328 0.119712534024206 0.9047108710525836 1.0 0.9979328018868148 17 O96011,P40855 2 |
| Hypointensity of cerebral white matter on mri 0.3150301719554954 0.1193206722422327 0.9050213064166492 1.0 0.9979328018868148 7 P22570,Q9NZJ7 2 |
| Abnormal choroid morphology 0.2581785484765398 0.1191454456962095 0.90516012668602 1.0 0.9979328018868148 32 O96011,P35222,Q9H5K3,Q10713,Q96J42,O43505,P40855 7 |
| Absent thumb 0.2671703610140342 0.1178795140106964 0.9061631255124848 1.0 0.9982497352415368 24 P18077,P62857,P60866,Q07020 4 |
| Abnormality of the uterus 0.2433019702182772 0.1167290605847548 0.9070747606779156 1.0 0.9986104164887576 53 P04637,Q15427,O95202,P60866,Q8WWQ0,Q8NFG4,P35222,Q9UBM7,P10644,Q8IY37,P21964,O60885,Q13363,Q6KC79 14 |
| Abnormality of facial soft tissue 0.2134157116269323 0.1161850863449158 0.9075058560742048 1.0 0.9988450234282984 124 O14802,Q15043,Q92621,Q86VD7,Q12769,P50542,P07196,Q9H1A4,Q969G3,Q93008,P51530,Q10469,O43707,O00170,O15020,P12235,P40855,O96011,Q96RR1,O75844,P16435,Q9Y223,O43819,Q12756,O75340,Q96JM3,Q9UBM7,O43709,P04062 29 |
| Curly hair 0.2860473815638493 0.1158657704735546 0.907758924142799 1.0 0.9988836192176525 14 Q14004,Q93008,P42345,Q9BPU6,Q02750 5 |
| Autistic behavior 0.2293070237379801 0.1140943026829552 0.9091630385334244 1.0 1.0 187 O95319,P42345,Q96CU9,O75306,P10644,O43676,Q86Y39,Q7Z2Z2,Q709C8,Q9HCK8,Q12955,P49711,Q06787,P27635,Q969G3,Q93008,Q8TAQ2,Q9Y4A5,P03886,Q2TAA5,Q8NI27,Q9BPU6,O95298,Q8N183,O75489,Q96RR1,Q15233,Q14139,O75648,Q15067,Q9H936,O75962,Q9P0J0,P21964,Q9UIG0,O60885,P30038,Q6KC79,O14936,P48449,Q12756,Q96JM3,Q9UBM7,Q8NFG4,P35222,P21359,Q96N67,P62266,O43709,P61981,Q9Y375,O14646 52 |
| Abnormal trabecular bone morphology 0.313883516165732 0.1131817877304035 0.9098864341659908 1.0 1.0 6 O95453 1 |
| Focal impaired awareness seizure 0.2699415200528501 0.1120961934930569 0.9107471355571892 1.0 1.0 20 Q12756,Q96JM3,Q7Z3K3,P42345,Q4G176,Q96N67,Q96L73 7 |
| Agitation 0.2531294369219885 0.1114589350117095 0.9112524277548486 1.0 1.0 35 P48449,O96008,P35610,Q15165,P10644,P04062 6 |
| Abnormality of lower limb epiphysis morphology 0.2740765249661201 0.1110318980960445 0.9115910520881418 1.0 1.0 16 Q6NUQ1,O95831 2 |
| Primary peritoneal carcinoma 0.3104988264346522 0.1100123585515076 0.9123995737017068 1.0 1.0 7 P04637 1 |
| Focal emotional seizure 0.3065270997065217 0.1088259266922676 0.9133405594170654 1.0 1.0 9 Q12756 1 |
| Nonimmune hydrops fetalis 0.2617317366721423 0.1085339380421 0.9135721608452358 1.0 1.0 26 P18077,Q14739,P60866,Q07020,P10619,P62857 6 |
| Right ventricular cardiomyopathy 0.2655809583463883 0.1076633432642268 0.9142627482791406 1.0 1.0 4 Q9BTV4,P14923,P15924 3 |
| Papillary thyroid carcinoma 0.3109841122624815 0.1075923993893617 0.914319026399709 1.0 1.0 6 Q8TAQ2,Q969G3 2 |
| Hypoplastic fifth fingernail 0.3109841122624815 0.1075923993893617 0.914319026399709 1.0 1.0 6 Q8TAQ2,Q969G3 2 |
| Myopathic facies 0.3066792097836287 0.10693404631274 0.9148413029868804 1.0 1.0 8 Q9Y5P4,Q00577,P06753,O14908,Q969X5,P22314,Q9BUK6 7 |
| Absence of secondary sex characteristics 0.286654135338357 0.1052709683231784 0.9161607988719472 1.0 1.0 5 P09884,Q9P2D1,Q8IY37,Q8WWQ0 4 |
| Normochromic anemia 0.2656018926503306 0.1050442600550327 0.9163406885227724 1.0 1.0 22 P18077,P62857,P60866,Q07020 4 |
| Nail dysplasia 0.2548528828196545 0.1040168820971704 0.9171559512673124 1.0 1.0 32 O95202,Q99575,Q13363,Q9Y4A5,Q15022,P29084,P18074,P16615 8 |
| Enlarged cisterna magna 0.2690793299081773 0.1039220151297524 0.9172312361528284 1.0 1.0 19 Q12948,O95298 2 |
| Subcapsular cataract 0.3048281436073349 0.1031423077716362 0.917850027314418 1.0 1.0 8 Q12948,Q9H6K4 2 |
| Abnormal urine carboxylic acid level 0.2598861155742574 0.1011349704579241 0.9194433179420314 1.0 1.0 26 Q9BUB7,Q96DA6,Q9H6K4,Q9NVI7,P11310,P53597 6 |
| Protruding tongue 0.2911723360807534 0.0982168235179555 0.9217601238171323 1.0 1.0 12 O15111,Q10713,Q10469 3 |
| Recurrent fractures 0.2511675579710987 0.0981983963666176 0.9217747558253568 1.0 1.0 34 Q13126,Q32P28,Q96AY3,P16435,P48735 5 |
| Striae distensae 0.3005801424949745 0.0963448130066854 0.9232467209682802 1.0 1.0 9 P04637,P10644 2 |
| Neoplasm of the rectum 0.294901190613457 0.0958032440398085 0.9236768408423546 1.0 1.0 11 P04637,P60866 2 |
| Joint contractures involving the joints of the feet 0.3007512403632193 0.0950450859110425 0.924279015610088 1.0 1.0 8 P49902 1 |
| Profound sensorineural hearing impairment 0.2808710972277944 0.0943600677866897 0.924823135514869 1.0 1.0 5 Q9NR77 1 |
| Wrist flexion contracture 0.3032500436974558 0.09346395785938 0.925534981783528 1.0 1.0 6 Q969X5,O60231 2 |
| Middle age onset 0.2936558361608055 0.0930604296945405 0.925855553497812 1.0 1.0 11 Q9NZJ7 1 |
| Abnormality of mouth size 0.2149309547769609 0.0918899411694566 0.9267854834324868 1.0 1.0 118 P27635,Q15233,Q14004,Q9UBM7,Q15392,O75844,Q8NFG4,O75962,P42345,P16435,Q10469,Q8NCH0,O43709,Q9NVI7,Q9NX62,P49711 16 |
| Small for gestational age 0.2216242104170476 0.0915908847056563 0.9270230939589208 1.0 1.0 77 Q07020,P10644,Q13363,Q15046,P49711,O75147,P40939,P18077,O60488,Q9BUB7,Q9H1A4,Q93008,Q8NI27,O75648,P22695,P16435,O95202,P29084,P18074,Q8NFG4,P60866,P62857 22 |
| Adenocarcinoma of the intestines 0.2611020017569182 0.091430524802437 0.9271505080352154 1.0 1.0 23 P18077,P62857,P60866 3 |
| Nausea 0.2615890290439905 0.0899485360785005 0.9283281112268722 1.0 1.0 21 P04637,P21359,Q16134,P36551 4 |
| Easy fatigability 0.260990878508588 0.0889416915000248 0.9291282498014856 1.0 1.0 22 Q96RR1,O75340,P10644,O00170,Q9H3H5,P12235 6 |
| Skin rash 0.2640309938409728 0.0879216414392264 0.9299389558305358 1.0 1.0 19 Q14739,Q06136,Q7Z2Z2 3 |
| Stage 5 chronic kidney disease 0.2544983882224662 0.0868113751610858 0.930821445690621 1.0 1.0 29 O95470,P23786 2 |
| Motor polyneuropathy 0.2806454067118069 0.0859710486157496 0.931489431852886 1.0 1.0 13 Q15041,O43819,Q92734,P07196 4 |
| Neoplasm by histology 0.2219886291310196 0.0857544464372126 0.9316616194962766 1.0 1.0 97 Q07020,P10644,P48735,P04637,P18077,Q9H1A4,Q13126,Q15392,Q969G3,Q9H269,Q8TAQ2,O60885,P18074,P51532,Q8NFG4,P60866,P35222,P21359,O75533,Q8IY37,Q92878,P62857 22 |
| Abnormal chorioretinal morphology 0.252042086925525 0.0857249098537989 0.9316850998160038 1.0 1.0 31 O96011,Q9H5K3,Q10713,Q96J42,P40855 5 |
| Abnormal cerebral cortex morphology 0.2261397677884308 0.0843337352164184 0.9327910911057288 1.0 1.0 225 O14802,Q00535,P26640,P78527,Q13409,P42345,O75306,P36543,Q709C8,P51572,P50542,Q06787,Q16134,Q9BUB7,Q969G3,Q15392,Q9Y320,Q93008,Q8TAQ2,Q9H5K3,Q9Y4A5,P03886,O00139,Q10713,Q15022,P03915,Q9BPU6,Q00534,P40855,O95453,Q15427,O96011,Q96RR1,Q14004,Q14139,O75648,Q9Y5U9,Q9H936,Q86XL3,Q9UIG0,Q92917,Q6KC79,P29084,P18074,P22570,O43819,O43505,O14936,O60885,P00403,Q12756,P51532,O96008,Q96JM3,Q9UBM7,Q96N67,Q8IY37,O43709,Q96GW9,P04062,Q9NXE4,P23786,Q02750 63 |
| Bladder diverticulum 0.2943112690511815 0.0829638540764168 0.9338802807631972 1.0 1.0 8 O43709,Q9NWM8,Q9UIG0 3 |
| Flat cornea 0.2966234480462562 0.0822572273079282 0.9344421667695753 1.0 1.0 6 O43709,Q9UIG0 2 |
| Nystagmus induced head nodding 0.2966234480462562 0.0822572273079282 0.9344421667695753 1.0 1.0 6 O43709,Q9UIG0 2 |
| Phonophobia 0.2966234480462562 0.0822572273079282 0.9344421667695753 1.0 1.0 6 O43709,Q9UIG0 2 |
| Overfriendliness 0.2966234480462562 0.0822572273079282 0.9344421667695753 1.0 1.0 6 O43709,Q9UIG0 2 |
| Developmental glaucoma 0.2540368765564987 0.0820123070773617 0.9346369267932526 1.0 1.0 28 P18077,P62857,Q12948,P60866 4 |
| Premature loss of teeth 0.2789272818296762 0.0819759025119542 0.934665875957094 1.0 1.0 13 O75844 1 |
| Persistent head lag 0.2953216515683991 0.0818166805905685 0.9347924913521328 1.0 1.0 7 Q15233,P51608,Q9NSD9,Q01082,P53597 5 |
| Purpura 0.2615656758398103 0.0777413171087871 0.938033827240672 1.0 1.0 18 P10644,Q8NCH0,P04062,P21964,P38435 5 |
| Hip contracture 0.2819719919560138 0.0775838674483796 0.9381590756071674 1.0 1.0 12 Q96AY3 1 |
| Dysphonia 0.2446111857696688 0.0771666718769635 0.938490954553194 1.0 1.0 36 P42356,Q15056,O95140,Q15233,Q96RR1,P21359,P19447,Q16854,Q02978,P18074,O43709,Q9UIG0,P29084,Q6DKK2,O75569 15 |
| Tremor by anatomical site 0.2526900243353701 0.0768779595737182 0.9387206313586688 1.0 1.0 28 Q99720,Q92734 2 |
| Aplasia hypoplasia of the fibula 0.270363408521314 0.0763413028131433 0.9391475668075472 1.0 1.0 5 Q9Y5S9,P38919,O75369,Q15427 4 |
| Abnormality of the pubic hair 0.2928551236720784 0.0762506340974672 0.939219699724532 1.0 1.0 6 Q8IY37 1 |
| Small hand 0.2482926237306592 0.0760650274755469 0.9393673635346323 1.0 1.0 32 Q93008,O60885,Q6KC79,Q14671,Q06787 5 |
| Leiomyosarcoma 0.2898434340418473 0.0750893591387003 0.9401436141000944 1.0 1.0 8 Q8NFG4,P35222 2 |
| Increased urinary non proteinogenic amino acid level 0.2694010325972565 0.0748060641846439 0.940369016817996 1.0 1.0 5 P30038 1 |
| Abnormal femoral head morphology 0.2594945510056141 0.0743810807947452 0.9407071624359018 1.0 1.0 19 Q99575,Q6NUQ1,O95831,Q7RTS9,Q7Z2Z2 5 |
| Limb girdle muscle atrophy 0.2753579777465159 0.0739397917259942 0.9410582932695816 1.0 1.0 13 P09651,Q16854,Q8WXH0,Q9BTV4,Q9Y223,P50402 6 |
| Aplasia hypoplasia of toe 0.2412596951610582 0.0733355503174572 0.9415391027879764 1.0 1.0 38 Q8IWS0,Q15427,P00813,O95202,Q9UBM7,Q03164,Q5JRA6,P10644,Q9NX62,Q13363,Q9BPU6,P13073 12 |
| Astrocytosis 0.2882443032621655 0.07237108316205 0.9423065967283848 1.0 1.0 8 P37198,P42345 2 |
| Abnormal larynx morphology 0.2519190041469816 0.072140962766937 0.9424897275569696 1.0 1.0 27 P27635,Q15427,Q14739,P16435,Q9NZJ7,P36543,P21964,Q7Z2Z2 8 |
| Abnormal dental pulp morphology 0.2877963654109247 0.072127389461338 0.9425005293486632 1.0 1.0 9 O95453 1 |
| Abnormal emotion affect behavior 0.2250750593600998 0.069520982099681 0.9445749317573462 1.0 1.0 224 Q13409,Q96CU9,O75306,P10644,Q92621,Q709C8,Q9UI09,Q12955,Q6DKK2,Q12769,P51572,Q06787,P04637,P27635,O43772,Q7KZN9,Q9Y276,Q969G3,Q93008,Q9H269,Q8TAQ2,Q15165,O95831,P05023,Q10469,O43707,O00170,Q10713,Q8NI27,Q9BPU6,Q9NZ08,Q8N183,Q86SX6,Q15233,Q03164,O43681,Q15067,Q9H936,O75962,Q9P0J0,P30038,Q8ND04,Q6KC79,P53597,Q12756,Q96JM3,Q9UBM7,P60866,P35610,P35222,Q9NZJ7,P26358,P04062,Q8NBM4,Q9UGM6,Q96DP5 56 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.2503579593867143 0.0682127646477008 0.9456162659204757 1.0 1.0 28 Q15056,Q13363,P21359,Q02978,O43709,Q9UIG0,Q9NVI1,O95202,Q12948,Q96J42 10 |
| Abnormality of secondary sexual hair 0.2868338557993837 0.0680283959587687 0.9457630299324667 1.0 1.0 7 Q8WWQ0,Q8IY37,P82650,Q9H7N4,P57740,P62304 6 |
| Macular atrophy 0.2873292617441504 0.0679169705651211 0.945851729388415 1.0 1.0 6 P19367,P04062,Q92620 3 |
| Increased body weight 0.2192622898014869 0.0677430210415845 0.945990202110593 1.0 1.0 99 Q9Y2R0,P42345,P10644,Q9BTV4,Q9HCK8,Q12955,Q06787,P04637,Q969G3,Q93008,Q5JRA6,O00170,Q10713,Q92620,P12235,Q8NI27,P50402,Q8IWS0,Q8WXH0,P21964,O60885,Q6KC79,P35222,O43709,O43395,Q96DP5 26 |
| Elfin facies 0.286581769213142 0.0676402527559415 0.946072011691935 1.0 1.0 7 O43709,Q9UIG0 2 |
| Neoplasm of the adrenal gland 0.2723797318282274 0.0675057920107247 0.9461790511880848 1.0 1.0 13 P48735,P21359,P10644 3 |
| Accessory spleen 0.2847982706267327 0.0666915190879259 0.9468272860687674 1.0 1.0 8 Q96J42,O95202 2 |
| Dysgraphia 0.2665822547084717 0.0665681942637158 0.9469254668611709 1.0 1.0 14 O43709,P60866 2 |
| Oral cavity bleeding 0.2862950704375283 0.0664193417943229 0.947043971678578 1.0 1.0 6 P10644 1 |
| Spastic paraparesis 0.2538807736594021 0.0656392964723314 0.9476650024982064 1.0 1.0 21 Q6DKK2,P04062,Q9H6K4,Q8WVX9 4 |
| Velopharyngeal insufficiency 0.2414657062323921 0.0650215776944476 0.9481568200905316 1.0 1.0 4 Q86W42,Q15427,Q8WYQ5 3 |
| Cleft soft palate 0.2315330723967127 0.0647112980153454 0.9484038671635228 1.0 1.0 58 P18077,Q15233,Q15392,Q93008,Q07020,P60866,Q9H5K3,P62857,P62266,Q9NXE4,O43505 11 |
| Abnormal leukocyte physiology 0.2280692905033229 0.0643162854983873 0.9487183863495444 1.0 1.0 62 P29084,P09601,Q10469 3 |
| Cerebral white matter atrophy 0.2532916881432274 0.0638836996052394 0.9490628315949812 1.0 1.0 21 P51572 1 |
| Abnormal cranial nerve physiology 0.2168005884840555 0.0623689179569924 0.9502690466323712 1.0 1.0 76 O96011,O75340,Q969G3,Q93008,Q15043,P51530,Q9NZJ7,P48735,Q8NBM4,Q92734,P12235,Q9NZ08,P40855 13 |
| Hyperkinetic movements 0.2732945946642932 0.0601323440254586 0.9520502297564546 1.0 1.0 12 P53597,Q9Y223,Q8NI27,Q9NZJ7 4 |
| Follicular hyperkeratosis 0.2585105902614427 0.0587478321082455 0.9531529605874248 1.0 1.0 5 Q6P1M0 1 |
| X linked recessive inheritance 0.2340285365543044 0.0587426179438459 0.9531571137162836 1.0 1.0 51 P27635,Q15233,Q9H0U3,Q93008,P26038,O95831,P29372,Q8NI27,P51572,P50402 10 |
| Palpitations 0.2548312598490641 0.0585811610441182 0.9532857162186226 1.0 1.0 17 P04637,P21359,Q96RR1,P12235 4 |
| Insomnia 0.2547951855450771 0.0584969809189752 0.9533527672562878 1.0 1.0 16 Q15056,P36551,O43709,Q709C8,Q9UIG0,Q10471 6 |
| Abnormality of the endometrium 0.2802507836990663 0.0582904347129397 0.9535172865546242 1.0 1.0 7 P52701,P43246,P21912,Q07864,P28340,P20585 6 |
| Abnormal circulating nucleobase concentration 0.275963737304301 0.0581500514259382 0.9536291065388176 1.0 1.0 11 P49257,P35610 2 |
| Myelodysplasia 0.2325543296526921 0.0567706117744467 0.9547279245761012 1.0 1.0 41 P04637,P18077,P60866,Q07020,P21359,O75533,P62857,Q7Z2Z2 8 |
| Aplasia hypoplasia of the humerus 0.2780874441730459 0.0566682673662593 0.9548094523524192 1.0 1.0 10 O14802,P53597,O00116 3 |
| Monotonic speech 0.2785960513945471 0.0558754009948909 0.9554410673697616 1.0 1.0 6 Q69YN2,P04062,Q04637,Q96QK1,O75165 5 |
| Spastic hyperactive bladder 0.2785960513945471 0.0558754009948909 0.9554410673697616 1.0 1.0 6 Q6PI48,P04062,Q04637,Q96QK1,O75165 5 |
| Infantile muscular hypotonia 0.221294847171618 0.0533444083256138 0.9574574978223752 1.0 1.0 66 P42356,Q15043,O75306,P36543,P37198,P27635,Q969G3,Q93008,Q8TAQ2,P03886,Q2TAA5,P03915,Q9H936,O43819,O14936,P53597,P51532,Q9NZJ7,Q9UGM6,Q7Z2Z2 20 |
| Arnold chiari malformation 0.2475169673561291 0.0519557403524366 0.95856395983308 1.0 1.0 25 O43709,Q15233,P16435,O75845 4 |
| Enchondroma 0.2737638606663577 0.0495710725950571 0.960464199006236 1.0 1.0 9 P48735,P55265,O15160 3 |
| Kyphoscoliosis 0.2303615027177845 0.0495665965629976 0.9604677659782684 1.0 1.0 54 Q15233,Q5MNZ6,Q99575,P51530,O75844,Q96AY3,P21359,Q8TB36,Q10469,Q8NCH0,P36543,P18074 12 |
| Flat occiput 0.2524045481600062 0.0482298286822288 0.961533077991618 1.0 1.0 15 O96011,Q9BUB7,P62266,P40855 4 |
| Pleural effusion 0.2626410393697892 0.0481715593560218 0.9615795162108978 1.0 1.0 13 Q9NZ08 1 |
| Upper limb muscle weakness 0.2449815358323823 0.0475702018519489 0.9620587806107463 1.0 1.0 26 P36551,P55265,Q969G3,P37198,Q9BTV4,Q8WXH0,Q969X5,Q92734,P50402,P07196 10 |
| Rimmed vacuoles 0.2519709101578835 0.0473129731645114 0.9622637885724794 1.0 1.0 15 P43243,P09651,Q9Y5L0,Q8WXH0,Q9BTV4,Q9Y223,P50402 7 |
| Abnormality of extrapyramidal motor function 0.2152333208177376 0.0462484430049958 0.9631122318218353 1.0 1.0 80 P49914,Q9H9P8,Q6DKK2,Q96IX5,Q96RR1,O96008,Q15043,P35610,Q9NZJ7,Q9H6K4,O43709,Q99720,Q9BPX6,O14949,P04062,P12235,P18074,Q06787 18 |
| Pancreatic adenocarcinoma 0.2712727166281908 0.0459945194211765 0.9633146181567334 1.0 1.0 9 P60866 1 |
| Abnormal pancreas morphology 0.2509775293621881 0.0452351821660964 0.9639198516277664 1.0 1.0 15 Q9NQH7,Q96J42 2 |
| Basal cell carcinoma 0.2675819372689972 0.0442061946932509 0.9647400442312656 1.0 1.0 11 P18074,Q9H1A4,P60866 3 |
| Aplasia hypoplasia of the abdominal wall musculature 0.2682544656847384 0.0433472806397328 0.9654247021180568 1.0 1.0 6 P62070,Q6NUK1,Q8WVQ1,O75369,P22681 5 |
| Periorbital edema 0.2431776615871616 0.043326573393098 0.9654412086028374 1.0 1.0 28 Q12756,Q92621,O43707,O00170,O43709,Q12769,P50542 7 |
| Vertigo 0.2445238827957786 0.0426491013623863 0.9659812538461738 1.0 1.0 25 P35222,P21359,Q8NBM4,O15460,Q9NZ08 5 |
| Profound global developmental delay 0.2549434200567602 0.0425141070027174 0.9660888661562854 1.0 1.0 14 O96011 1 |
| Thickened skin 0.2153414630739647 0.042478818144993 0.9661169971779588 1.0 1.0 101 O14802,Q06136,Q6P1M0,Q9BTV4,P50542,P16615,Q9H1A4,O00170,P42167,P50402,O95470,P40855,O95453,O96011,Q14739,P00813,Q15800,O75844,P29084,P18074,O15269,P48449,P21359,P51648,P04062,Q7Z2Z2 26 |
| Decreased fertility in males 0.2685069008783026 0.0421707457679609 0.9663625833017746 1.0 1.0 9 Q86Y56,P51809,O43502,Q8IY37,O00170,Q9NVI1,Q02750,P38398 8 |
| Weak voice 0.2670009401441554 0.0419521247805695 0.9665368633786806 1.0 1.0 6 P43243,P54098,O75787,P04062,Q14203 5 |
| Prominent eyelashes 0.2673573369644773 0.0415572617342166 0.9668516439825012 1.0 1.0 7 Q8TAQ2,Q969G3 2 |
| Short foot 0.2402965691223185 0.041255272667 0.9670923899304364 1.0 1.0 31 Q93008,Q9NX62,O60885,Q6KC79,Q06787 5 |
| Stereotypy 0.2160614886815178 0.0407116359713798 0.96752578512363 1.0 1.0 68 O95202,Q12756,Q96DA6,Q96JM3,Q14139,Q03164,Q8NFG4,O75962,Q96N67,Q10469,Q8NI27,Q13363,Q06787,O14646 14 |
| Broad philtrum 0.2651908922280046 0.0377875106952961 0.9698571022827044 1.0 1.0 9 Q8TAQ2,Q96GM5,P51532,Q969G3 4 |
| Abnormality of the inner ear 0.26545340445561 0.0377024554218974 0.9699249182467828 1.0 1.0 10 Q06124,P62070,Q9P2D1,O15160,P10644,Q9H9Y6,Q15046,Q13428,P22681 9 |
| Abnormal bleeding 0.2133667641389883 0.0368965428391066 0.9705674962868684 1.0 1.0 106 P10644,P36543,Q8NCH0,P49711,P16930,P04637,Q13126,Q969G3,Q10469,Q9NZ08,Q14739,O75844,P21964,P38435,P60866,P35222,P49257,O75533,P21359,Q8NBM4,O15460,P23786 22 |
| Productive cough 0.2610466938263867 0.0356773668417085 0.9715396177041162 1.0 1.0 6 Q86Y56,Q6UN15,P40763,P10644,Q14980 5 |
| Abnormality of male internal genitalia 0.2616496184356668 0.035309983863263 0.971832562324783 1.0 1.0 11 P04637,Q8IWS0,Q8IY37 3 |
| Abnormal tracheobronchial morphology 0.2268321887236077 0.0347943301366142 0.9722437417912504 1.0 1.0 55 Q9H0U3,Q9UBM7,Q93008,P16435,Q13432,O43709 6 |
| Large hands 0.2609333725974594 0.0342891718918041 0.9726465593721858 1.0 1.0 11 O14802,O00170,P21359,Q15022 4 |
| Elbow flexion contracture 0.2404006628513308 0.0333290155869687 0.9734122155158328 1.0 1.0 26 Q96AY3,P16435,P23786,P50402,Q6KC79 5 |
| Abnormal thrombocyte morphology 0.2056502913584709 0.033173730281055 0.9735360467876324 1.0 1.0 122 Q07020,P42345,P10644,P00374,P18077,Q10469,O95453,P21964,Q6KC79,Q9H0U3,P60866,P35610,Q9UGM6,O14678,Q9NZJ7,O75845,Q8TCJ2,O15460,P62857,Q7Z2Z2 20 |
| Aplasia hypoplasia of the skin 0.2264467178858289 0.0330828355942109 0.9736085304691756 1.0 1.0 55 O14802,P04637,O95202,Q9H1A4,Q13126,Q15392,O75844,P10644,Q8NCH0,Q13363,O15111,P18074,Q06787,O95453 14 |
| Abnormality of the musculature of the upper limbs 0.2112590008638046 0.0326474218224614 0.9739557528215008 1.0 1.0 75 P18077,P36551,Q96RR1,O75340,P60866,Q07020,Q8TB36,Q9NZJ7,Q9BTV4,Q9Y223,Q9BQT8,P12235,P62857,P50402,O75147,P07196 16 |
| Sideroblastic anemia 0.260978670012553 0.0325300744354592 0.9740493327843904 1.0 1.0 9 O43502,Q9Y606,Q9NVI1,Q9Y2Z4,Q15031,P38398,O76024,O75027 8 |
| Aplasia hypoplasia involving the skeletal musculature 0.2564740708240333 0.0317037245239442 0.9747083246407304 1.0 1.0 12 Q9H5K3 1 |
| Abnormal prostate morphology 0.2601769426613135 0.0315681200620263 0.9748164672173923 1.0 1.0 9 P04637,Q8IWS0 2 |
| Dental malocclusion 0.2393390272523291 0.0301768117099999 0.9759260416825372 1.0 1.0 26 Q8NFG4,P61586,O43709,O75147,Q8TC12 5 |
| Bowel diverticulosis 0.2576072849931145 0.0300902415437414 0.9759950833285596 1.0 1.0 8 O43709,Q15056,P54886,Q9UIG0 4 |
| Asthma 0.2407384980256163 0.0298995297757726 0.976147180867605 1.0 1.0 21 Q6P1M0,P42345,Q5JRA6,P18074,P21964,P23458,P50542 7 |
| Abnormal incisor morphology 0.242241710732355 0.0297057556913395 0.97630172157104 1.0 1.0 18 O75648,Q12830,Q96PZ0,Q9Y296,Q9BPU6,P21281,P49711 7 |
| Incisor macrodontia 0.242241710732355 0.0297057556913395 0.97630172157104 1.0 1.0 18 O75648,Q12830,Q96PZ0,Q9Y296,Q9BPU6,P21281,P49711 7 |
| Abnormality of neutrophils 0.213169879989041 0.0273935231950762 0.97814586405339 1.0 1.0 86 P18077,Q9NRZ9,Q14739,P60866,Q07020,P26038,P41440,O14678,P10644,P42167,P29084,P18074,P62857,P61619,O95453,Q7Z2Z2 16 |
| Hypoplasia of the pons 0.2395974742612769 0.0247921660901432 0.9802207396939022 1.0 1.0 17 Q9H5K3,Q96N67 2 |
| Embryonal renal neoplasm 0.2544712896140644 0.0239090125234298 0.9809251853847928 1.0 1.0 10 P04637,O43684,Q6P1J9,Q15645,P51809,Q8IY37,O60566,Q96L73,Q13263 9 |
| Leukemia 0.2247689324880739 0.0237483782599222 0.9810533166013964 1.0 1.0 53 P04637,P18077,O43684,Q02750,Q9H1A4,P55265,P60866,Q07020,P21359,O75533,Q08J23,Q14980,O60885,P62857,Q96L73,Q7Z2Z2 16 |
| Abnormal adipose tissue morphology 0.2213852255000341 0.0231136534394699 0.981559614726419 1.0 1.0 60 O75844,P42167,Q2TAA5,P03915,P29084 5 |
| Psychomotor retardation 0.2271991992276817 0.021878166544685 0.9825451411799266 1.0 1.0 39 Q96RR1,Q9BUB7,Q9H5K3,O95831,Q2TAA5,Q99986,P29084,P18074,Q8TC12 9 |
| Abnormal eosinophil morphology 0.2526122062989332 0.0218096863571223 0.982599767430086 1.0 1.0 10 P23458,Q6P1M0 2 |
| Capillary malformation 0.2428310557567166 0.0216283679225773 0.982744404491559 1.0 1.0 14 P42345,P21359,Q9UQE7,O43709,Q9UIG0 5 |
| Bone marrow hypercellularity 0.2509410288582187 0.0213516037312225 0.9829651793811598 1.0 1.0 9 Q6UN15,P40763,P62263,P10644,P49327,Q14980,Q05655,P06748 8 |
| Genu varum 0.2512632141989036 0.0203276862309077 0.9837819699289548 1.0 1.0 10 Q7RTS9,Q7Z2Z2 2 |
| Long eyelashes 0.2250366592121178 0.0192527227950543 0.9846394986736192 1.0 1.0 40 P26640,Q969G3,Q03164,Q96N67,P62266,Q10469,Q4J6C6,O60885,P49711,Q6KC79 10 |
| Abnormal delivery 0.2360222130782406 0.0187991668839042 0.9850013184366104 1.0 1.0 21 O14802,Q969X5,Q9UBM7,O75844 4 |
| Pelvic girdle muscle weakness 0.2478042659974917 0.0182325296899231 0.985453352005742 1.0 1.0 9 O14979,A6NHR9,P06753,Q9Y5L0,Q16854,Q15149,Q9Y223,P55072 8 |
| Supernumerary spleens 0.247602838572339 0.0180381152583859 0.9856084467721686 1.0 1.0 9 Q96J42,O95202 2 |
| Respiratory tract infection 0.2156064693560624 0.0175617920739481 0.9859884374808092 1.0 1.0 157 O14802,P78527,Q92621,Q13432,Q7RTS9,Q92734,Q13363,Q12769,P49711,P50542,Q969G3,Q93008,P09601,Q8TAQ2,Q10469,O43707,O95298,O95453,P00813,Q9Y5U9,Q9H936,Q9UIG0,Q6KC79,P29084,P18074,O95202,Q9UJW0,P53597,Q9NRZ9,Q12756,P51532,Q9H0U3,Q96JM3,P26038,Q9NZJ7,O43709,P04062,O15460,Q7Z2Z2 39 |
| Abnormal urine cytology 0.2269339725452951 0.0164706135065308 0.9868589459321616 1.0 1.0 38 P09601,P49257 2 |
| Abnormal inflammatory response 0.2181670716682608 0.0160841226904419 0.9871672801355946 1.0 1.0 242 O14802,Q06136,Q6P1M0,P78527,P08183,P22830,P10644,Q13432,Q92621,Q8NCH0,Q92734,Q13363,Q12769,Q06787,P04637,Q9H1A4,Q13126,Q9Y276,Q969G3,Q8TAQ2,Q5JRA6,P03886,O43707,O00170,Q9NQH7,P03915,Q9NZ08,O95453,O75489,Q14739,P39210,Q15800,P21964,O60885,Q6KC79,P29084,P18074,Q8ND04,O95202,P23458,O15269,P00403,P48449,Q9H0U3,Q9UBM7,P35222,P26038,P21359,O75533,P51648,P26358,O43709,P04062,Q8NBM4,O15460,Q7Z2Z2 56 |
| Paranoia 0.2142857142857241 0.0159609257007664 0.9872655644948788 1.0 1.0 5 P50336,P36551,Q8WYQ5,P08397 4 |
| Abnormal dental root morphology 0.2411414236437731 0.0144420648645097 0.9884772999743614 1.0 1.0 8 O60832,Q9NX24,Q13045,Q01968,P06748,P17302,O95453 7 |
| Hypopituitarism 0.2282308519479147 0.0143631392148089 0.9885402670005732 1.0 1.0 36 O14802,P04637,P62070,Q969G3,Q03164,P35222,P10644,O00170,Q96GW9,Q8NI27,Q4J6C6,Q7Z2Z2 12 |
| Osteoarthritis 0.2438584465042567 0.0131952815644795 0.9894719940798996 1.0 1.0 11 O75844,P04062 2 |
| Abnormal mitochondrial morphology 0.2440051193279924 0.0129341096326424 0.9896803613479604 1.0 1.0 10 P51530,P22570,P53597 3 |
| Clubbing 0.2337066174335468 0.0127573323749973 0.9898213975555008 1.0 1.0 18 P29084,O95453 2 |
| Cellular immunodeficiency 0.2412170639899626 0.0122320862414885 0.9902404506191425 1.0 1.0 9 Q9NRZ9,O60832,Q15813,P54819,Q9NX24,P21912,P06748,O95453 8 |
| Malignant neoplasm of the central nervous system 0.2334495939056083 0.0117563463416079 0.9906200088337992 1.0 1.0 22 P60866,P35222,P21359,P48735,O60885 5 |
| Cardiomegaly 0.228041096451143 0.0115632431085019 0.9907740724490036 1.0 1.0 35 P11310,O95298,Q15233,P23786 4 |
| Joint contracture of the hand 0.2234351223663744 0.0109872493542332 0.9912336197539776 1.0 1.0 46 O14802,P27635,Q9BUB7,Q15392,O75844,P16435,Q92917,Q15022,P18074,P49711,P07196 11 |
| Limited elbow movement 0.2276800479468715 0.0104189787275313 0.9916870081372098 1.0 1.0 35 Q96AY3,P16435,Q9H6K4,Q7RTS9,Q969X5,P23786,Q6KC79,P50402 8 |
| Abnormal granulocyte count 0.2048869947821057 0.0096896182711517 0.9922689241583436 1.0 1.0 71 P18077,Q14739,Q9H1A4,Q6P1M0,P00813,Q07020,P60866,P26038,O75533,P23458,P10644,O14678,P29084,P18074,P62857,P61619,Q7Z2Z2 17 |
| Decreased circulating total igm 0.2333019755409185 0.0085070576027919 0.9932124319503866 1.0 1.0 8 P00813,Q13724,P49327,Q15904,Q05655,Q9Y2Q5,Q969N2 7 |
| Depression 0.2087779411968354 0.0082809684011563 0.9933928186782646 1.0 1.0 107 P36551,P10644,Q6DKK2,Q06787,Q9Y276,P51530,Q15165,P03886,Q8NI27,P12235,P03915,Q96RR1,Q14139,O43681,P21964,P30038,P00403,P60866,Q9NZJ7,P26358,O43709,Q5JTZ9,P04062,O15460 24 |
| Oculogyric crisis 0.2383759063662398 0.0076693951171936 0.9938807680338376 1.0 1.0 11 Q12756 1 |
| Falls 0.2333573763152233 0.0059948957610264 0.9952167938791 1.0 1.0 9 Q9BQT8,P54886,Q01082,Q8WVX9 4 |
| Abnormality of the calvaria 0.2141468917326027 0.0045230195839 0.9963911648105496 1.0 1.0 255 O14802,P26640,Q32P28,Q15043,P42345,P10644,P29372,P36543,Q8NCH0,Q7RTS9,Q9NX62,Q4J6C6,Q13363,Q00839,P49711,P50542,O75147,Q06787,Q16134,P27635,Q9BUB7,Q15392,Q93008,O95831,Q10469,Q10713,Q8NI27,P40855,Q8IWS0,Q14739,O96011,Q15233,Q03164,O75844,Q96AY3,Q15067,O75962,P16435,Q9Y223,P21964,O60885,Q6KC79,P29084,P18074,Q8ND04,O95202,O15111,Q12756,Q9UBM7,Q8NFG4,P62266,O75845,Q9NVI7,P04062,Q969X5,P13073,O14646 57 |
| Joint stiffness 0.21936012414515 0.0041061084521911 0.996723808667184 1.0 1.0 55 Q15427,O75844,Q96AY3,P16435,P51648,P48735,Q9BTV4,Q8WXH0,O43709,O60885,Q15022,O15460,P18074,P50402,Q6KC79 15 |
| Acanthosis nigricans 0.2305640064770597 0.0040059475117063 0.9968037248777908 1.0 1.0 9 O14802 1 |
| Polyphagia 0.2210466611325582 0.0037847540847252 0.9969802103587913 1.0 1.0 7 P35222 1 |
| Heterotropia 0.2198853291167575 0.0019768711376127 0.9984226860679644 1.0 1.0 52 P40939,P27635,Q6XZF7,Q15233,P62070,O75340,Q9UGM6,P19447,Q9NVI7,P04062,Q8NI27,Q9H3H5,P29084,P18074,O43819,P50542 16 |
| Muscular dystrophy 0.2291460766903744 0.0015227353284695 0.9987850334607536 1.0 1.0 23 O43684,P09651,Q7Z392,Q9H5K3,Q15149,Q9BTV4,Q8WXH0,O43505,P50402 9 |
| Generalized hypopigmentation of hair 0.2261155958917725 0.0010714109767446 0.9991451378869332 1.0 1.0 9 O95453 1 |
| Abnormality of skeletal muscle fiber size 0.2276533417440637 0.0008974684563178 0.9992839238710236 1.0 1.0 20 Q9Y223,Q96RR1,O95831,Q9BPX6 4 |
| Orofacial dyskinesia 0.2144200626959276 0.0007174901418582 0.9994275257424006 1.0 1.0 7 Q8TCS8,P42704,Q9BPX6,P49959,Q9UQN3,O75569 6 |
| Pancytopenia 0.2269417103637537 0.0002226185345041 0.9998223761098376 1.0 1.0 31 O75533,P10644,P04062,Q9Y2R9,P00374,Q7Z2Z2 6 |
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