| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Lymphangioma 0.9915852334419112 2.9095999986245404 0.0036189159497126 0.9999999576849556 0.0630014252509453 2 P48735 1 |
| Dicarboxylic aciduria 0.6597563535425659 2.899525240951906 0.0037372825304584 0.9999999757410494 0.0648210892227295 29 P11310,O43772 2 |
| Autoimmunity 0.5923445702529867 2.8864779152575255 0.003895800873688 0.9999999884855796 0.0661015778676847 37 Q8IZA0,Q06787,P14174,Q9H0U3 4 |
| Abnormal circulating fatty acid concentration 0.6760020157545754 2.8546557706768576 0.0043083497958722 0.9999999983452073 0.0709660333890743 26 P11310,O43772 2 |
| Organic aciduria 0.5444287063638689 2.8297842699419156 0.004657940002176 0.9999999996804456 0.075477968962596 48 P11310,O43772 2 |
| Abnormal circulating fatty acid anion concentration 0.7636497522836282 2.76370375204269 0.0057149399518992 0.999999999997794 0.0883269432169767 15 P11310 1 |
| Maturity onset diabetes of the young 0.9478827361563515 2.7281581624144486 0.0063689062797673 0.9999999999998987 0.0929146046982886 2 P61457 1 |
| Posterior polar cataract 0.9448968512486428 2.715623694479631 0.0066151059933636 0.9999999999999682 0.0956127819966731 2 Q9Y287 1 |
| Decreased plasma carnitine 0.8064796511669385 2.689950306002744 0.0071462659837953 0.9999999999999974 0.0993055299765977 12 P11310 1 |
| Abnormal urine ph 0.5114968247241849 2.64387431084098 0.0081963085393017 1.0 0.1110284951016002 54 P11310,O43772 2 |
| Abnormal lactate dehydrogenase level 0.6989089454985611 2.632456219959962 0.008476994743563 1.0 0.1127777454093908 17 P11310 1 |
| Ketosis 0.6853253011251901 2.6227991240563693 0.0087210674724746 1.0 0.1153693756316356 19 P11310 1 |
| Hyperammonemia 0.5455217732013931 2.5477463303812877 0.0108421277738166 1.0 0.1315602335889578 38 P11310 1 |
| Fatigable weakness of skeletal muscles 0.8193059511764279 2.5228734242253754 0.0116400290302047 1.0 0.1387029413446539 10 Q9Y5P6,P11310,Q13586 3 |
| Periodic paralysis 0.8987513572204124 2.5196424904489056 0.0117474082418134 1.0 0.138922002011142 2 Q9NP58 1 |
| Abnormal circulating lipid concentration 0.44159349149977 2.509793904602557 0.0120801642494086 1.0 0.1421392190451772 87 P11310,Q9Y6B6,Q8NI22,Q15392,O43772,Q92734,Q8NF91,P28070,P34913,Q13045,Q15800,P37268,P22830,P23786,Q8N511,P50542 16 |
| Abnormal cartilage morphology 0.7464050187212681 2.4842942506900365 0.0129808496886048 1.0 0.1487494147354343 13 O75874,P48735,P50542 3 |
| Alveolar cell carcinoma 0.8881650380021715 2.474079443655455 0.0133579989117622 1.0 0.1511002630526151 2 P30154 1 |
| Coma 0.5315621190205768 2.4174086537757495 0.0156314568616688 1.0 0.1659911847691506 37 P11310 1 |
| Hypothalamic hamartoma 0.8661780673181324 2.378729787875005 0.0173724053997961 1.0 0.1799888816089496 2 O43924 1 |
| Pain 0.3522530721078144 2.3618892226026356 0.0181820743815692 1.0 0.1871575488176274 197 P11310,Q8IYB7,P48735,Q9BUK6,P14174,Q15800,Q9NR77,Q14566,O75874,Q70HW3,Q06787,Q8N1F7,P07686,P42892,Q93063,Q13586,O75477,Q15165,P42771,Q9H6K4,P28070,P22626,Q9UER7,Q15043,Q01844,Q92804,P23786,Q9UHD2,P35637 29 |
| Abnormal synaptic transmission at the neuromuscular junction 0.5490563282160468 2.350728656733879 0.0187366916684954 1.0 0.1895117215627736 33 P11310,Q9UHD2,Q13586,Q15165,Q92804,P35637,Q9Y5P6 7 |
| Enchondroma 0.8080616624236561 2.33898911835289 0.0193359966678641 1.0 0.1943705390682059 9 P48735 1 |
| Exercise induced myalgia 0.7497357436662261 2.3356317739471817 0.0195104411029951 1.0 0.1952294779600989 11 P11310,Q13586 2 |
| Rhizomelia 0.7167361546952429 2.3340965727203757 0.0195906657249249 1.0 0.1956142592533552 13 Q15392,Q8WTW3,Q03164,O00116,Q7RTS9 5 |
| Uplifted earlobe 0.8555917480998911 2.332475823903927 0.0196756733063687 1.0 0.1960450597738828 2 Q9H9B1 1 |
| Goiter 0.7488694009483197 2.3314472334631695 0.01972978937707 1.0 0.196166886736346 11 P48735 1 |
| Cerebral edema 0.8016541749413217 2.3102869397761654 0.0208722735024218 1.0 0.2038538064154812 9 P11310,Q9UHD2 2 |
| Abnormality of the mitochondrion 0.397743637233236 2.304440663545676 0.0211979195813882 1.0 0.2038538064154812 105 P11310,Q70HW3,P03886,Q9NPL8,Q8N183,O43772,Q7KZN9,Q9UHD2,O43676,P30084,O00217,Q8TB37,Q96CU9,P35637,P50542 15 |
| Alveolar ridge overgrowth 0.8439196525515744 2.2812196313185487 0.0225354536545676 1.0 0.2127692126297184 2 Q15392 1 |
| Tongue nodules 0.8439196525515742 2.2812196313185487 0.0225354536545676 1.0 0.2127692126297184 2 O43924 1 |
| Abnormality of the parathyroid gland 0.5842099815657461 2.263157311337769 0.0236259936787524 1.0 0.2203994589593575 26 P48735,Q08J23 2 |
| Dysdiadochokinesis 0.6337187529980465 2.260198187157778 0.023808953330533 1.0 0.2207112324447102 17 Q06787,O75503,Q9BUK6,P41440 4 |
| Abnormality of tibia morphology 0.714485619629483 2.240299698053118 0.0250714728447121 1.0 0.2275381925034628 12 Q7RTS9,Q32P28,O95831 3 |
| Impaired temperature sensation 0.8545606235963559 2.234818540449946 0.0254292641448445 1.0 0.2303389632307683 7 Q9NR77 1 |
| Pulmonary fibrosis 0.6061736886348482 2.2206588073862377 0.026374079454142 1.0 0.2364385325819176 21 Q8IZA0,P14174 2 |
| Hand oligodactyly 0.8287187839305102 2.214064634884571 0.0268243329850303 1.0 0.2370157572998063 2 Q6KC79 1 |
| Muscle spasm 0.4502133324865032 2.197100199528388 0.0280132908777912 1.0 0.244294676314146 68 P11310,Q9UHD2,O75298,Q9NP58,Q13586,P35637,Q16637,P53985,Q15165,Q9NR77,Q92804,P23786,Q9Y5P6 13 |
| Mediastinal lymphadenopathy 0.9366728696886344 2.1920658040664276 0.0283747554853288 1.0 0.2465287197361689 5 Q9H0U3 1 |
| Coxa vara 0.6208012384177011 2.184551729119544 0.028921730504088 1.0 0.2508156739826749 17 P50542,Q7RTS9,Q93063,O95831 4 |
| Anomic aphasia 0.8203040173724212 2.176695590513482 0.0295032875243719 1.0 0.2528283364835027 2 P49768 1 |
| Severe varicella zoster infection 0.9484214759964638 2.1758656970663286 0.0295653044505048 1.0 0.2528283364835027 3 Q9H0U3 1 |
| Abnormal astrocyte morphology 0.6091788141407661 2.1732518824348435 0.0297613648400476 1.0 0.2528283364835027 19 P48735,O95831 2 |
| Multiple enchondromatosis 0.8656721109268133 2.110988646177764 0.0347732877717423 1.0 0.2778798150232229 6 P48735 1 |
| Abnormal erythrocyte sedimentation rate 0.726933578509773 2.092617477163462 0.0363833151515236 1.0 0.2853987686006449 10 P14174 1 |
| Abnormality of t cell physiology 0.6213793713075852 2.088776465311984 0.0367278498892891 1.0 0.2876196003871922 16 Q9H0U3 1 |
| No social interaction 0.7983170466883822 2.078412917010505 0.0376713440153229 1.0 0.2920776556684721 2 Q15067 1 |
| Severe infection 0.7770540161947941 2.077621661323741 0.0377442194760913 1.0 0.2921589748868356 8 Q9H0U3 1 |
| Hypothermia 0.6506846419961312 2.0721983593664053 0.0382469463601515 1.0 0.292379646660541 14 O43772 1 |
| Impaired antigen specific response 0.7757918766268725 2.0720190916903873 0.038263660774005 1.0 0.292379646660541 8 Q9H0U3 1 |
| Bloodstream infectious agent 0.9025684801937874 2.0615353042832703 0.0392519989503616 1.0 0.2956857847473444 5 Q9H0U3 1 |
| Megaloblastic anemia 0.7467804885067755 2.060697746664858 0.0393318847520487 1.0 0.2956857847473444 9 P00374 1 |
| Abnormality of circulating enzyme level 0.3696011586616121 2.054511602833351 0.0399262015510926 1.0 0.2956857847473444 113 P11310,Q9Y584,Q92734,O43772,P22626,Q9BUK6,O95831,Q08J23,Q13586,P53985,Q86U42,P23786,P49768,O14979,Q9Y5P6 15 |
| Demyelinating peripheral neuropathy 0.5844311175923937 2.052483805549286 0.0401226673154835 1.0 0.2956857847473444 20 O15121,P41440,Q9NR77 3 |
| Abnormal cd4 cd8 ratio 0.8508393396524906 2.051164025878004 0.0402509759123983 1.0 0.2956857847473444 6 P17812,Q9H0U3 2 |
| Abnormality of the alveolar ridges 0.7170943470304008 2.045569640026563 0.0407987310297841 1.0 0.2966777289013652 10 P98175,Q15392,Q8IYB7,A1X283,Q9UBM7,O43924 6 |
| Polar cataract 0.9224895615652932 2.0282469159864096 0.0425350537892044 1.0 0.3050408221973112 4 Q9Y287,P50542 2 |
| Abnormal circulating protein concentration 0.3402000618379268 2.026812343704087 0.0426816076097644 1.0 0.3051572037198886 174 P11310,Q96MW5,Q9Y584,O43772,Q9BUK6,P14174,O95831,Q08J23,P53985,O14979,O00400,Q9Y5P6,Q8N1F7,P41440,Q13586,Q9UKG1,P22626,Q86U42,Q8N511,P23786,Q9UHD2,Q92734,P16930,P49768 24 |
| Chondrosarcoma 0.9215100488864764 2.024548945264321 0.0429137012635396 1.0 0.3060515369610687 4 Q92804,O75874,P48735 3 |
| Abnormal cellular phenotype 0.3374934353580521 2.024318383377849 0.0429374033276579 1.0 0.3060515369610687 212 P11310,P03886,Q9NPL8,O43772,Q9H0U3,P14174,O00217,Q70HW3,Q96CU9,P78536,P50542,O75503,Q8N183,Q7KZN9,P28070,P30084,Q9UHD2,O43676,Q9UJW0,Q8TB37,P17812,P35637 22 |
| Metatarsus adductus 0.5891758860606311 2.023060957161357 0.0430668632218729 1.0 0.3065077818663083 18 Q15392,P08236,A1X283,Q08J23,P50542 5 |
| Abnormal csf protein level 0.5913446882448592 2.0097508687955092 0.0444575631234294 1.0 0.3130748392586766 17 P03886,Q9UHD2,O43681,Q9NR77,Q16625 5 |
| Poor gross motor coordination 0.9038777847137224 2.004808097485065 0.0449835665442091 1.0 0.3139464897668094 3 O75503 1 |
| Fatigable weakness of bulbar muscles 0.6065172101905149 2.0029870347810417 0.0451786801239566 1.0 0.3139464897668094 16 Q92804,Q15165,P35637,Q9Y5P6 4 |
| Severe viral infection 0.8873503329796955 2.002738305718325 0.0452053849264979 1.0 0.3139464897668094 5 Q9H0U3 1 |
| Disproportionate short limb short stature 0.5503031204316285 1.9995456487297136 0.0455493479211199 1.0 0.3141127416716808 25 Q15392,Q8WTW3,Q03164,Q32P28,O00116,Q7RTS9 6 |
| Recurrent viral infections 0.6657895958201984 1.9927727370276136 0.0462863383848244 1.0 0.3168386873700527 12 Q9H0U3 1 |
| Difficulty standing 0.7956760134147276 1.9867910996151976 0.0469455513471159 1.0 0.3190798504478144 7 Q7RTS9 1 |
| Abnormal brainstem mri signal intensity 0.5561948765395275 1.9695927248238336 0.0488850661107729 1.0 0.3260392411093533 23 Q9NPL8,Q8N183,O43676,O95831,O00217,Q8TB37,Q96CU9 7 |
| Proximal amyotrophy 0.5797226634948737 1.9656015561293751 0.0493446542194642 1.0 0.327410511483568 18 Q92734,Q8NF91,Q9BQP7,Q13586,P35637,Q16637,Q13642,O14979,P07196 9 |
| Abnormality of lower limb epiphysis morphology 0.5699532699263459 1.962085524197191 0.0497525279874933 1.0 0.3274721430554257 20 Q7RTS9,O95831 2 |
| Decreased circulating level of specific antibody 0.8285248361376751 1.9604887507176636 0.0499386915450279 1.0 0.3275470661752595 6 P17812,Q9H0U3 2 |
| Irregular epiphyses 0.7849612299138906 1.9409848088024488 0.0522601200109316 1.0 0.3380305828883878 7 Q7RTS9 1 |
| Abnormality of the thoracic cavity 0.6252597285387426 1.9336801520239089 0.0531524656428876 1.0 0.3423837642443507 14 Q9H0U3 1 |
| Abnormal circulating carbohydrate concentration 0.4583070666856474 1.932518114395304 0.0532955884412318 1.0 0.3428341217998471 43 Q70HW3,Q9NPL8,Q8N183,O43676,O95831,O00217,Q8TB37,Q96CU9,P49247 9 |
| Decreased circulating antibody level 0.4554048942830105 1.930300560420728 0.0535696076603382 1.0 0.3436527022922794 44 Q9UJW0,P14174,Q9H0U3 3 |
| Neoplasm of the adrenal gland 0.6367297366152112 1.9162458004115936 0.0553338161239715 1.0 0.3492983827847712 13 P48735 1 |
| Muscle hypertrophy of the lower extremities 0.7154557750297763 1.9152555169455832 0.0554599255126957 1.0 0.3495542815288751 9 Q9NR77 1 |
| Lymphoproliferative disorder 0.8157517391732944 1.9082298811089249 0.056361511151707 1.0 0.3499682471769142 6 Q9H0U3 1 |
| Exostoses 0.8629602460634982 1.9078197282362384 0.0564145200233299 1.0 0.3499682471769142 5 O75874,P48735 2 |
| Increased serum pyruvate 0.4739575496990026 1.903647244631298 0.0569561414171888 1.0 0.3500519602058623 36 Q70HW3,Q9NPL8,Q8N183,O43676,O95831,O00217,Q8TB37,Q96CU9 8 |
| Lymphopenia 0.5250459993798374 1.8973963449022135 0.0577756476818707 1.0 0.3509252374762653 27 P28070,Q9H0U3 2 |
| Eversion of lateral third of lower eyelids 0.7581433224755698 1.8965367221857048 0.0578891089244943 1.0 0.3509504141668714 2 P61978 1 |
| Macrocytic anemia 0.4653003607085244 1.895551186180335 0.0580194172106913 1.0 0.3509504141668714 38 Q99707,P18077,P62899,P00374,P41440,P46777,Q969E8,P42766,P61254,P62913,P62847 11 |
| Spinal canal stenosis 0.7089746565136518 1.884906002329082 0.0594425295992189 1.0 0.3532816705006745 9 Q96T58,Q9NSE4,O43909,P10644,O00170,O95155 6 |
| Lethargy 0.3855954581896456 1.8662861505100377 0.0620013414028246 1.0 0.3635863226235954 88 P11310,P03886,Q9NPL8,Q8N183,O43772,Q9UHD2,O43676,Q969E8,O00217,Q8TB37,Q96CU9 11 |
| Abnormal pelvis bone morphology 0.8048562625149311 1.8634549157974272 0.0623982899276511 1.0 0.3635863226235954 6 Q7RTS9 1 |
| Broad foot 0.6794066193827868 1.8632844878459685 0.0624222514177601 1.0 0.3635863226235954 10 O95831 1 |
| Decreased cd4 cd8 ratio 0.8777467647301131 1.8580487049998116 0.063162098131404 1.0 0.366074388056145 4 P17812,Q9H0U3 2 |
| Disturbance of facial expression 0.7999295391401418 1.8431500940027687 0.0653070990714712 1.0 0.3720993745371071 6 Q9NR77 1 |
| Abnormality of the achilles tendon 0.6086633461352197 1.8422472525897584 0.0654389914721851 1.0 0.3720993745371071 14 Q92734,Q8NF91,Q8TD16,Q9Y3E5,Q08J23,P50402,Q15041,Q13642,Q8WXH0 9 |
| Prelingual sensorineural hearing impairment 0.7456568946796959 1.839439458094664 0.0658505749572975 1.0 0.3720993745371071 2 Q9NSE4 1 |
| Childhood onset sensorineural hearing impairment 0.7456568946796959 1.839439458094664 0.0658505749572975 1.0 0.3720993745371071 2 Q9NSE4 1 |
| Obsessive compulsive trait 0.8447069394146237 1.8362532831979552 0.0663202055423428 1.0 0.3720993745371071 5 O75503 1 |
| Lymphoma 0.5162629584199276 1.8357605700337505 0.0663930754046229 1.0 0.3720993745371071 27 Q9H0U3 1 |
| Neonatal hypoglycemia 0.621694773326677 1.8357147906822795 0.0663998492937052 1.0 0.3720993745371071 13 O43772 1 |
| X linked recessive inheritance 0.4250416941439781 1.8346934933515715 0.0665511169188173 1.0 0.3720993745371071 56 Q9H0U3,Q969E8,O95831,P56377,P38159 5 |
| Hepatocellular adenoma 0.74457111834962 1.834462513096642 0.066585367470018 1.0 0.3720993745371071 2 Q9UKG1 1 |
| Abnormal thyroid stimulating hormone level 0.7445711183496198 1.834462513096642 0.066585367470018 1.0 0.3720993745371071 2 O14654 1 |
| Osteochondroma 0.74457111834962 1.834462513096642 0.066585367470018 1.0 0.3720993745371071 2 Q93063 1 |
| Elevated circulating growth hormone concentration 0.7445711183496199 1.8344625130966403 0.0665853674700183 1.0 0.3720993745371071 2 O00170 1 |
| Pituitary prolactin cell adenoma 0.7445711183496199 1.8344625130966403 0.0665853674700183 1.0 0.3720993745371071 2 O00170 1 |
| Abnormal blood glucose concentration 0.3654241909043459 1.83031303773889 0.0672031429215807 1.0 0.3746575217878123 103 P11310,Q9UKG1,Q9NPL8,Q8N183,O43772,O43676,P49419,Q9Y2Q9,P53985,O00217,Q8TB37,Q96CU9 12 |
| Fatigable weakness of respiratory muscles 0.5915207653443195 1.827937447617798 0.0675589400768428 1.0 0.3753585466919423 15 Q9UHD2,Q14203,Q15165,Q9UQN3,Q92804,P43243,P35637 7 |
| Short proximal phalanx of finger 0.7426710097719869 1.8257483540609336 0.0678881759580551 1.0 0.3766828530942801 2 Q9NS87 1 |
| Abnormal circulating nitrogen compound concentration 0.4236708384528975 1.821164987320136 0.0685817809834248 1.0 0.3778452709945629 56 P61457,P11310,O43772 3 |
| Sensorimotor neuropathy 0.4537239939931946 1.81435132181743 0.0696236549459892 1.0 0.3817887308103834 39 P03886,Q92734,Q9NSE4,P41440,P51659,O95831,P38935,P00403,Q9NR77,P49247 10 |
| Sarcoma 0.4133833882200516 1.8115754046936927 0.0700518281388549 1.0 0.3824440510127977 68 O75874,Q15392,P48735,Q07812,Q969E8,P42766,Q01844,Q92804,O43683,Q13126 10 |
| Abnormality of the supraorbital ridges 0.5011153604178741 1.8036960849100363 0.071278963647215 1.0 0.3864060334584756 29 P38159,P50542,Q08J23 3 |
| Broad palm 0.715804026708754 1.80212758775051 0.0715253341594035 1.0 0.3867819167072596 8 Q7RTS9,O95831 2 |
| Underdeveloped supraorbital ridges 0.5566247194993993 1.799762047554142 0.0718982190396615 1.0 0.3883498959201096 17 Q08J23 1 |
| Abnormality of lipoprotein cholesterol concentration 0.5862406583586949 1.797744463089889 0.0722175118730863 1.0 0.388729434599613 15 Q9Y6B6,Q8NF91,P34913,Q15800,P37268,P50402,Q13642,Q8WXH0,Q10471,Q8N511 10 |
| Abnormal metatarsal morphology 0.4757819093499145 1.791417681341794 0.0732262936412282 1.0 0.3900427571115943 33 Q7RTS9,Q15392,P50542,Q08J23 4 |
| Abnormal ldl cholesterol concentration 0.5970151658147475 1.7776191459192052 0.0754664271156972 1.0 0.3966434098572507 14 Q9Y6B6,Q8NF91,P34913,Q15800,P37268,Q13642,Q8N511 7 |
| Hepatomegaly 0.3214826083573614 1.775048835417219 0.0758898240025525 1.0 0.397530252577129 200 P11310,P07686,Q8N183,O43772,Q9H0U3,P00374,P28070,O43676,Q9NPL8,P14174,Q9UJW0,Q9UER7,Q01844,Q96CU9,P50542 15 |
| Parathyroid adenoma 0.7816003249938999 1.7672998573864878 0.0771780237242909 1.0 0.4004556076207764 6 P48735 1 |
| Abnormality of the parathyroid morphology 0.7816003249938999 1.7672998573864878 0.0771780237242909 1.0 0.4004556076207764 6 P48735 1 |
| Neoplasm of the parathyroid gland 0.7816003249938999 1.7672998573864878 0.0771780237242909 1.0 0.4004556076207764 6 P48735 1 |
| Cerebral palsy 0.6347032405624814 1.76300484347024 0.0778996727725696 1.0 0.4022702907052937 11 O75874,P48735 2 |
| Fatigable weakness of swallowing muscles 0.5924220374497894 1.7520355421707436 0.0797676965830176 1.0 0.4055940533097411 14 Q9UHD2,Q14203,Q15165,Q9UQN3,Q92804,P43243,P35637 7 |
| Cold induced muscle cramps 0.8362828398400888 1.7401934298330417 0.0818250589143492 1.0 0.4124722829880489 3 Q9NR77 1 |
| Gonosomal inheritance 0.4015882932614628 1.7349849026164386 0.0827434793579555 1.0 0.4157593496065514 72 P55795,Q9H0U3,P31150,Q969E8,O95831,P56377,P78318,P38159 8 |
| Micromelia 0.5155974440140391 1.7309143018633244 0.0834670504055465 1.0 0.4176027746251866 24 O75874,P48735 2 |
| Abnormal muscle fiber morphology 0.3822335383706394 1.7273245084044937 0.0841094000061182 1.0 0.4177658390989238 84 P03886,P51114,Q9BUK6,O95831,Q9H2D1,O14979,Q9Y5P6,Q70HW3,Q8N9N2,Q13586,P08237,Q93100,P61978,P22626,Q8NI60,Q86U42,P00403,P23786,Q7Z406,O43676,P49768,P35637 22 |
| Venous thrombosis 0.559103610257258 1.724493131907111 0.0846188577678379 1.0 0.4177658390989238 16 P48735 1 |
| Multifocal epileptiform discharges 0.4846483345028374 1.723118312955118 0.0848671317860718 1.0 0.4177658390989238 30 O75503,P49419,Q08J23,P09471,O60524 5 |
| Abnormal circulating ceruloplasmin concentration 0.8319032664746087 1.7228611687093471 0.0849136339582172 1.0 0.4177658390989238 3 O00400 1 |
| Calcific stippling 0.8318375674640771 1.7226010068045492 0.0849607028165531 1.0 0.4177658390989238 3 P50542 1 |
| Neoplasm of the adrenal cortex 0.8154440662467628 1.7206364362533546 0.0853168173504137 1.0 0.4177658390989238 5 P48735 1 |
| Depressed nasal tip 0.8420037813420936 1.7203269250905155 0.0853730318209844 1.0 0.4177658390989238 4 Q03164 1 |
| Xerostomia 0.5574968117092652 1.7149352176211028 0.0863571048978588 1.0 0.4192042467999415 16 Q9UHD2,Q14203,Q15165,Q9UQN3,Q92804,P43243,P35637 7 |
| Aminoaciduria 0.4377220368826705 1.7114697416331477 0.0869944323136184 1.0 0.4192042467999415 41 P11310 1 |
| Abnormality of salivation 0.4140870082405961 1.7113868561470822 0.0870097219495074 1.0 0.4192042467999415 50 Q96T58,Q9BZI7,Q9UQN3,Q9NR77,P55795,P31150,Q14203,Q15165,Q93074,Q8N0X7,Q9BVA1,P49959,P51812,Q92804,Q9UHD2,O43909,Q9NS87,P43243,P35637 19 |
| Myopathic facies 0.767083500013648 1.706896086511723 0.087841368352618 1.0 0.4219088492259591 6 Q9BUK6 1 |
| Bilateral cryptorchidism 0.610140458043352 1.7023098054160035 0.0886973076605424 1.0 0.4232055699484894 12 P78318,P37268 2 |
| Neoplasm of the skeletal system 0.427227111683083 1.7007234258300443 0.0889949341051041 1.0 0.4232506929559456 45 O75874,P18077,Q93063,P62899,P46777,P48735,Q969E8,P42766,P61254,P42771,Q92804,P62847,Q13126 13 |
| Abnormal biliary tract morphology 0.4971017232007222 1.7002306921234889 0.0890875412624274 1.0 0.4232506929559456 27 O15078,P14174,P50542,Q9UJW0 4 |
| Biliary cirrhosis 0.7293306833367083 1.7000850828175167 0.0891149227534833 1.0 0.4232506929559456 7 P14174 1 |
| Decreased ldl cholesterol concentration 0.836498571546902 1.6989892360048289 0.0893212117645778 1.0 0.4233716950339252 4 Q15800,P37268 2 |
| Loss of consciousness 0.8358086067027358 1.6963127859467069 0.0898266603494297 1.0 0.4249073236529087 4 P11310 1 |
| Increased muscle fatiguability 0.8355095930596919 1.6951527278635832 0.0900464518375394 1.0 0.4254426279815016 4 P53985 1 |
| Acute lymphoblastic leukemia 0.5353783355845956 1.6919232531913573 0.090660607709637 1.0 0.4262690757705261 18 O43683,O00165,Q08J23 3 |
| Recurrent fractures 0.4424580041813005 1.6890359466569411 0.091212541450985 1.0 0.4274373767710714 37 O75874,P48735,Q13126 3 |
| Holoprosencephaly 0.5666989559492499 1.68532518837585 0.091925848588994 1.0 0.4289826989444343 15 O43683,O15078 2 |
| Abnormality of endocrine pancreas physiology 0.806499091987042 1.685092812353287 0.0919706661841153 1.0 0.4289826989444343 5 P53985,P16930 2 |
| Poor speech 0.353350236698899 1.6831095483588687 0.0923538864014434 1.0 0.4303415423064277 104 Q93063,P67870,P31150,P49768,P61978,P08236,Q9NS87,Q08J23,P56377,Q15043,Q8TB37,P51812,Q96CU9,O95155,Q7RTS9,O60524,Q9Y5P6 17 |
| Abnormal renal resorption 0.8309095599736465 1.6772949787902958 0.0934848139717035 1.0 0.4330260967650717 4 O15078 1 |
| Astrocytoma 0.6398039058784362 1.6684301486248851 0.0952303675446639 1.0 0.4350866450845476 10 P48735 1 |
| Fasciculations 0.4259966462549006 1.667146574623402 0.0954852629828466 1.0 0.4356233053529164 44 P07686,Q9UHD2,P51114,P22626,O95831,Q16637,P35637 7 |
| Hypolipidemia 0.7068403908794787 1.6604220034174977 0.096829586682329 1.0 0.4376959019626898 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.7068403908794787 1.6604220034174977 0.096829586682329 1.0 0.4376959019626898 2 Q9Y6B6 1 |
| Progressive sensorineural hearing impairment 0.6018139757368178 1.658221854801374 0.0972726951369464 1.0 0.4381029833542299 12 P03886,P00403,Q9NSE4,Q86SK9 4 |
| Recurrent hand flapping 0.8153093366529414 1.657009592000562 0.0975175358348963 1.0 0.4381029833542299 3 P55795 1 |
| Tachycardia 0.4860486732027921 1.656183142316809 0.0976847360474428 1.0 0.4381777958909722 28 O43772 1 |
| Aplasia hypoplasia of the colon 0.7054831704668838 1.6541252558421438 0.0981020655128972 1.0 0.438370203050475 2 O75844 1 |
| Dysmenorrhea 0.7054831704668838 1.6541252558421438 0.0981020655128972 1.0 0.438370203050475 2 O00170 1 |
| Epidermal hyperkeratosis 0.7054831704668838 1.6541252558421438 0.0981020655128972 1.0 0.438370203050475 2 O75844 1 |
| Focal aware seizure 0.8131059655643036 1.648245225222537 0.0993023597861986 1.0 0.4416267339779374 3 P49419 1 |
| Myositis 0.6584497126903508 1.6455231173536586 0.0998619793766537 1.0 0.4428538346788537 9 P28070 1 |
| Lipid accumulation in hepatocytes 0.3861718455512641 1.638086909399899 0.1014035653483023 1.0 0.4467174039072675 77 P11310,Q7KZN9,O43772,P22626,O95155 5 |
| Nocturnal seizures 0.7000542888165038 1.6289159133520656 0.1033308208365482 1.0 0.4513976063223463 2 Q9NQX3 1 |
| Pancreatic islet cell hyperplasia 0.8170298186236289 1.6232878750513935 0.1045278802693334 1.0 0.4557765952525964 4 P53985,P16930 2 |
| Increased urine proteinogenic amino acid derivative level 0.6976112920738327 1.617560393809822 0.1057573703833414 1.0 0.4592582208335948 2 Q9NQX3 1 |
| Vertical nystagmus 0.8050502307900895 1.616163571349009 0.1060589526112547 1.0 0.4592582208335948 3 P50542,P49959 2 |
| Esophageal carcinoma 0.6970684039087947 1.6150360190766757 0.1063028949339806 1.0 0.4592582208335948 2 Q8N9N2 1 |
| Rimmed vacuoles 0.5265251181418895 1.6145641306726142 0.1064051184293082 1.0 0.4592582208335948 17 P31483,Q8NF91,P22626,O75190,Q86U42,Q13642,P43243,O14979 8 |
| Tibial bowing 0.8135851570969919 1.6098568494106915 0.1074291110358003 1.0 0.46197477225037 4 Q7RTS9 1 |
| Tinnitus 0.5256024029967161 1.6088454775456904 0.1076501338884465 1.0 0.4625005293574268 17 O95831,Q9NR77 2 |
| Achilles tendon contracture 0.5924256345346901 1.6083381220331685 0.1077611457261049 1.0 0.4625531122230518 12 Q8NF91,Q8TD16,Q9Y3E5,Q08J23,P50402,Q13642,Q8WXH0 7 |
| Hypocholesterolemia 0.6495025527690894 1.6026641411457552 0.1090088244322231 1.0 0.4645259803240002 9 Q9Y6B6,Q15800,P37268 3 |
| Hypolipoproteinemia 0.7071270024370513 1.6026392711656483 0.1090143182524185 1.0 0.4645259803240002 7 Q15800,P37268 2 |
| Metaphyseal cupping 0.7851163479184475 1.5997805068523483 0.1096472846761895 1.0 0.4667983946714506 5 O95831 1 |
| Pituitary adenoma 0.5777768411134757 1.5972570042341527 0.110208430662833 1.0 0.4687611996312871 13 P48735 1 |
| Abnormal circulating ferritin concentration 0.7835362569761519 1.5934582569422129 0.1110574256000198 1.0 0.4703126332203863 5 P41440 1 |
| Joint hemorrhage 0.7985272954225278 1.590144177192309 0.1118023100116709 1.0 0.4713862484500113 3 Q8NI22 1 |
| Multicystic kidney dysplasia 0.4896036191767219 1.583949153629478 0.1132052904179374 1.0 0.4741863819563517 25 O43683,P50542 2 |
| Cachexia 0.5056537497880057 1.5779986535058717 0.1145659191394328 1.0 0.4756313823847197 21 P11310,Q01844 2 |
| Acute phase response 0.4701589485877938 1.576392779534048 0.1149353113796824 1.0 0.4760519609312617 29 P28070,P41440,P14174 3 |
| Myalgia 0.3999100961755086 1.5741985334938102 0.1154415582917189 1.0 0.4766547053308055 50 P11310,Q06787,Q93063,Q9BUK6,Q13586 5 |
| Delayed cranial suture closure 0.4593673056994211 1.5735917386492149 0.1155818643927437 1.0 0.4766547053308055 31 A1X283,O95155,P51812,Q08J23 4 |
| Subcutaneous nodule 0.5087505441429883 1.5717315700753989 0.1160128173403678 1.0 0.4766547053308055 20 O75874,P48735 2 |
| Abnormal 5th finger phalanx morphology 0.6870249728555916 1.56827733197803 0.1168164237247713 1.0 0.4766547053308055 2 Q9NS87 1 |
| Naevus flammeus of the eyelid 0.6870249728555916 1.56827733197803 0.1168164237247713 1.0 0.4766547053308055 2 Q8IYB7 1 |
| Decreased specific antibody response to vaccination 0.7928319304914342 1.567396987265955 0.1170219277382247 1.0 0.4766547053308055 3 P17812,Q14790 2 |
| Decreased proportion of cd8 positive t cells 0.7917458593537905 1.563056316309584 0.1180393492370333 1.0 0.4796004915474565 3 O43909,O14920 2 |
| Frontotemporal dementia 0.569575102467109 1.5522523833625916 0.1206018465014311 1.0 0.4811298626872035 13 P31483,Q9UHD2,P22626,Q9UQN3,P49768,P35637 6 |
| Barrel shaped chest 0.7293630359104692 1.5487293379209095 0.1214467982266662 1.0 0.4813664061164058 6 Q32P28,Q7RTS9 2 |
| Hyperinsulinemic hypoglycemia 0.7292010930087842 1.5480469336583464 0.1216109970461567 1.0 0.4813664061164058 6 P53985 1 |
| Broad alveolar ridges 0.7721064020998096 1.547657759318496 0.1217047171414607 1.0 0.4813664061164058 5 Q8IYB7,Q9UBM7,A1X283 3 |
| Limb undergrowth 0.3921613325950233 1.5354231085651755 0.1246799310198687 1.0 0.4877828880251005 62 O75874,P98175,Q6KC79,Q93063,Q15392,Q8WTW3,Q03164,Q9NS87,P48735,Q9BX63,Q8NCM8,Q9UBM7,P61254,O00116,Q7RTS9,O15111 16 |
| Phocomelia 0.7844148791745815 1.5337335926666713 0.1250952059435959 1.0 0.488184041194883 3 Q6KC79,Q15427 2 |
| Fatiguable weakness of proximal limb muscles 0.7658716813592007 1.5226276957379643 0.1278518766651046 1.0 0.4940019293916544 5 Q13586 1 |
| Abnormal circulating sulfur amino acid concentration 0.610385805190654 1.5218016369025698 0.1280587912220969 1.0 0.4943181914859318 10 Q99707,P41440,P16930 3 |
| Punctate cataract 0.7908496850627753 1.5209629525858084 0.1282691345345079 1.0 0.4943629761302937 4 P08670 1 |
| Narrow iliac wing 0.7630857176128012 1.511433148156852 0.1306781291636085 1.0 0.4966447154032337 5 P50542 1 |
| Abnormal b cell subset distribution 0.7883670414263375 1.511232500789404 0.1307292245482423 1.0 0.4966447154032337 4 O14920,P17812 2 |
| Macroorchidism 0.7628361858190845 1.510430191717972 0.1309336895689203 1.0 0.4966447154032337 5 Q93074,Q06787,Q9BZI7,P38159 4 |
| Glioma 0.521464074206121 1.4988274347384716 0.1339184054039828 1.0 0.5013975919740642 16 P48735 1 |
| Biliary tract abnormality 0.4547470506616871 1.4987538701438807 0.1339374958078973 1.0 0.5013975919740642 30 O15078,P14174,P50542,Q9UJW0 4 |
| Abnormality of the metaphysis 0.3857885284265905 1.4983364475232464 0.1340458590619933 1.0 0.5013975919740642 66 O75874,P48735,O95831,Q7RTS9,Q13126 5 |
| Skin nodule 0.4773204125174497 1.498332727550585 0.1340468250746895 1.0 0.5013975919740642 25 O75874,Q9NSE4,P34913,P48735,P35637 5 |
| Fetal distress 0.4725800333448852 1.4938949440024465 0.1352030801619825 1.0 0.5033036759924996 26 Q9NPL8,Q8N183,P49419,O43676,O00217,Q8TB37,Q96CU9 7 |
| Abnormal thyroid hormone level 0.6701954397394136 1.4897082742403616 0.1363009580607572 1.0 0.5046013598178785 2 O14654 1 |
| Neoplasm of the tracheobronchial system 0.7802159310185224 1.4792567857018264 0.1390716978238306 1.0 0.5100021620274071 4 P30154 1 |
| Skeletal muscle atrophy 0.303256989834346 1.4726955361847367 0.1408331507723994 1.0 0.5145099841468878 192 P11310,Q9NPL8,O75298,Q9BUK6,O95831,Q9NR77,O14979,O00400,Q9Y5P6,Q8N9N2,P07686,Q13586,Q16637,Q15165,Q13126,P50542,P22626,P51812,Q92804,Q9UHD2,O15078,P56377,O60524,P35637 24 |
| Cardiomegaly 0.413877728256258 1.4720664250058504 0.1410029410113527 1.0 0.5145099841468878 39 P11310 1 |
| Capillary hemangioma 0.6441838541719157 1.471818109102545 0.1410700020594926 1.0 0.5145099841468878 8 Q8IYB7,Q9UBM7,P21281 3 |
| Abnormality of humoral immunity 0.3864834844785428 1.470768465951614 0.1413537431760425 1.0 0.5150411653454173 61 Q9H0U3,P28070,P14174,Q9UJW0,P17812 5 |
| Increased circulating acth level 0.7756257548824953 1.4612324482625243 0.1439516610244156 1.0 0.5221732212063038 4 Q9UER7 1 |
| Hypertriglyceridemia 0.4797107911897134 1.4581891347634044 0.1447884178136931 1.0 0.5232806349586921 23 P06737,Q8NF91,P28070,Q13045,P50402,Q13642,Q8WXH0,P22830,Q9Y285,P02545 10 |
| Metaphyseal dysplasia 0.5523884653481415 1.457549927964828 0.1449646398750037 1.0 0.5232806349586921 13 O95831 1 |
| Axonal loss 0.6738365546352723 1.4554337256251386 0.1455492253743204 1.0 0.5235227583911416 7 P41440,Q8N9N2 2 |
| Impaired pain sensation 0.4823328044312336 1.450631684791324 0.1468824475425854 1.0 0.5270112140492031 22 P61978,Q13045,O95831,Q9NR77 4 |
| Erythroid hypoplasia 0.4898901835472889 1.4491922673938822 0.1472838963808977 1.0 0.5270112140492031 20 P18077,P62899,P46777,Q969E8,P42766,P61254,P62913,P62847 8 |
| Visceral angiomatosis 0.7632033443166564 1.448692077497494 0.1474235939364629 1.0 0.5270112140492031 3 P48735 1 |
| Hemangiomatosis 0.7632033443166564 1.448692077497494 0.1474235939364629 1.0 0.5270112140492031 3 P48735 1 |
| Bladder neoplasm 0.5945805714527762 1.4424913255903744 0.149163816942528 1.0 0.530916208753705 10 O43683 1 |
| Butterfly vertebrae 0.7708240475247572 1.44236516789398 0.1491993847771529 1.0 0.530916208753705 4 Q9Y2W2,Q8WTW3 2 |
| Abnormality of skeletal muscle fiber size 0.4771765681439185 1.4409461684884275 0.1495998914642555 1.0 0.5309876316984516 23 Q8N9N2,Q9BUK6,O95831,P22626 4 |
| Abnormality of the thenar eminence 0.4918340064219177 1.438724450099494 0.150228609092146 1.0 0.5314596295916509 19 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Horizontal eyebrow 0.7029288189444548 1.4370316602360476 0.1507089977007698 1.0 0.5314596295916509 6 Q8N201,O95155,P78536,P11233 4 |
| Abnormality of the upper arm 0.4726003479682463 1.4364446607575263 0.150875852559174 1.0 0.5314596295916509 24 Q8NF91,Q15910,O14979,Q13642,O00116,Q7RTS9,Q9Y5S9,P50542 8 |
| Abnormal pattern of respiration 0.305365462273828 1.4338657614746546 0.1516105741601978 1.0 0.5314596295916509 207 P11310,O43772,P51114,O95831,O00217,O43683,P49419,Q15165,Q96CU9,P50542,Q8N183,Q7KZN9,P30084,P51812,Q92804,Q9UHD2,O15078,P35637,O60524 19 |
| Upper limb asymmetry 0.6577090119435396 1.4312773729180497 0.1523507361561389 1.0 0.5314596295916509 2 Q15555 1 |
| Abnormal circulating ige level 0.6671731693569759 1.4258418252140088 0.1539140048622689 1.0 0.5314596295916509 7 O43909,P78536 2 |
| Skin ulcer 0.4111247423541848 1.423493374161244 0.1545931815168781 1.0 0.5326554085292654 37 O75874,P48735 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.5568006594574347 1.4176127973989074 0.1563038417980073 1.0 0.5351236993260268 12 O95831 1 |
| Abnormality of the odontoid process 0.6111229338831494 1.417555540414539 0.1563205681567381 1.0 0.5351236993260268 9 Q7RTS9,O95831 2 |
| Leiomyosarcoma 0.5892312784515352 1.4155808287052989 0.1568982676333719 1.0 0.5363172170270661 10 O43683 1 |
| Hypoplasia of the odontoid process 0.6314225695436602 1.4122778957440951 0.1578681522473064 1.0 0.5374133231694586 8 Q7RTS9,O95831 2 |
| Abnormal thrombosis 0.4521886542160765 1.4092013100507812 0.1587756505031787 1.0 0.5391924374955664 28 P48735 1 |
| Psoriasiform dermatitis 0.7613176949646847 1.4049794082669338 0.1600274015667639 1.0 0.5396533785555859 4 P78536,Q15800 2 |
| Abnormal iliac wing morphology 0.5059485824517973 1.404893039591825 0.1600530866602714 1.0 0.5396533785555859 16 P50542,Q7RTS9,O95831 3 |
| Short sternum 0.7521210496157632 1.4041683032727854 0.160268738090656 1.0 0.5396533785555859 3 Q6KC79 1 |
| Abnormality of adrenal morphology 0.4597473268495017 1.4027169376158175 0.1607012644896222 1.0 0.5396533785555859 26 P48735 1 |
| Focal t2 hyperintense brainstem lesion 0.4827440630368528 1.4025613534755383 0.1607476829411465 1.0 0.5396533785555859 20 Q9NPL8,Q8N183,O43676,O00217,Q8TB37,Q96CU9 6 |
| Hypermagnesemia 0.6506514657980456 1.398214155015367 0.1620487673514143 1.0 0.5396533785555859 2 P29992 1 |
| Hypocalciuria 0.6506514657980456 1.398214155015367 0.1620487673514143 1.0 0.5396533785555859 2 P29992 1 |
| Molar tooth sign on mri 0.7580073659162727 1.3919520675899248 0.1639369132353949 1.0 0.5427170803848032 4 O15078 1 |
| Pigmentary retinopathy 0.3803129183084074 1.39101357807994 0.1642213093787292 1.0 0.5431132710597381 57 Q8N183,Q7KZN9,O15078,Q9BUK6,P30084,O00217,Q96CU9,P50542,Q9Y5P6 9 |
| Urinary bladder sphincter dysfunction 0.5625623361260923 1.3887808758738425 0.1648993922928041 1.0 0.5439888106553713 11 O75298,P22626,Q9NR77 3 |
| Generalized muscle weakness 0.4054671508347832 1.3865811906911223 0.1655695070916398 1.0 0.5447026121442168 38 Q9UHD2,O95831,Q15165,Q92804,P35637 5 |
| Epiphyseal stippling 0.5026181106063139 1.384677065519741 0.1661512349263911 1.0 0.5456425197477488 16 O00116,P08236,P38435,P50542 4 |
| Thin ribs 0.5268595479781175 1.3816717617115533 0.1670725086590323 1.0 0.5475161357944356 14 O95831 1 |
| Abnormal greater sciatic notch morphology 0.6567931340493207 1.379680403747992 0.1676850691223266 1.0 0.5483723314943125 7 O43909,Q7RTS9,P08236,Q5F1R6 4 |
| Annular pancreas 0.7542428249226133 1.3771326032655116 0.1684712542973949 1.0 0.5501749538875178 4 Q96T58,O95155 2 |
| Amyotrophic lateral sclerosis 0.4806801093049867 1.366881222502911 0.1716625385784844 1.0 0.5551256087131521 19 Q9UHD2,P22626,Q15165,Q92804,P35637 5 |
| Writer s cramp 0.7427706906867628 1.3665690142104945 0.1717604350439403 1.0 0.5551256087131521 3 Q9H269 1 |
| Prominent sternum 0.7424840170125848 1.365415890914786 0.1721223721491998 1.0 0.555512797225846 3 O95831 1 |
| Segmental peripheral demyelination remyelination 0.6534599696599411 1.3648433237500632 0.1723022988020326 1.0 0.555710513285068 7 Q9NR77 1 |
| Abnormal mitochondrial number 0.7417841146714756 1.3626005120124698 0.1730084473975512 1.0 0.5562051673985277 3 P46976 1 |
| Disproportionate short stature 0.4264993509087812 1.3595944527438195 0.1739582945476354 1.0 0.5562051673985277 32 Q03164,Q7RTS9,Q15392,Q8WTW3 4 |
| Ocular albinism 0.7253706477750341 1.359404717389313 0.1740183770897023 1.0 0.5562051673985277 5 O95155,Q86YV9 2 |
| Aplasia hypoplasia involving the vertebral column 0.4826710318360488 1.3592641287781229 0.1740629065761154 1.0 0.5562051673985277 18 Q7RTS9,P08236,O95831 3 |
| Hereditary nonpolyposis colorectal carcinoma 0.5780521209706851 1.3592521229699257 0.1740667096432053 1.0 0.5562051673985277 10 O43683 1 |
| Osteolysis 0.4314774946484706 1.3591641466112534 0.1740945797144475 1.0 0.5562051673985277 31 O75874,O43683,P48735,A1X283 4 |
| Total anomalous pulmonary venous return 0.7409111281442671 1.3590887546705956 0.1741184658138461 1.0 0.5562051673985277 3 Q15392 1 |
| Absent septum pellucidum 0.4080844141337877 1.3576516827643124 0.1745742351403199 1.0 0.5572809428507962 36 Q15392,Q9H9B1,Q08J23 3 |
| Acute leukemia 0.3774878866256547 1.3551455787147988 0.1753711795278805 1.0 0.5577664962525472 52 P18077,P62899,P46777,Q07812,P62847,Q969E8,P42766,Q08J23,O00165,P61254,P42771,O43683 12 |
| Inflammatory abnormality of the eye 0.3941837971501504 1.3434144763462874 0.179137801958614 1.0 0.5630216956860333 42 P28070,P14174,Q15800 3 |
| Spondyloepimetaphyseal dysplasia 0.5736578470661762 1.3370827439082655 0.1811956292115635 1.0 0.567205301870155 10 O95831 1 |
| Hypoparathyroidism 0.4820118640557166 1.3364901753665746 0.181389109606278 1.0 0.5674316635178358 17 P03886,Q08J23 2 |
| Myotonia 0.5942866142683813 1.3358669188402794 0.1815927753826045 1.0 0.5676895641633759 9 Q00577,Q8NF91,O75190,P08237,P50402,Q13642,Q8WXH0 7 |
| Abnormal epiphyseal ossification 0.468382518204153 1.331686374161109 0.1829632685993745 1.0 0.5692414765390944 21 P08236,P38435,O00116,Q7RTS9,P50542 5 |
| Cervical spinal canal stenosis 0.7336410534889977 1.3298386003884823 0.1835714548604829 1.0 0.5704479914476721 3 O43909,Q9NSE4 2 |
| Abnormality of the lymph nodes 0.3766377127371937 1.321917125476596 0.186195749077267 1.0 0.5754586129688233 49 Q9UER7,P28070,P14174,Q9H0U3 4 |
| Hyperconvex nail 0.5911101965152918 1.3204341040970755 0.1866901234014721 1.0 0.5754586129688233 9 P42892,P51812 2 |
| Abnormal leukocyte physiology 0.366622292259361 1.3187792917579335 0.187242909267673 1.0 0.5754586129688233 69 Q9H0U3,P28070,P14174,Q9UJW0,P17812 5 |
| Fatty replacement of skeletal muscle 0.5903985839579455 1.3169759963230323 0.1878466706587773 1.0 0.5754586129688233 9 P51114,Q7Z406,P22626 3 |
| Enthesitis 0.6332790445168293 1.3167671484338914 0.1879166877563634 1.0 0.5754586129688233 2 P01889 1 |
| Oligoarthritis 0.6332790445168293 1.3167671484338914 0.1879166877563634 1.0 0.5754586129688233 2 P01889 1 |
| Abnormal t cell morphology 0.4787843521282569 1.3161943248858414 0.1881088280147194 1.0 0.5754586129688233 17 Q9H0U3 1 |
| Abnormality of pancreas physiology 0.3784584229575181 1.315437647776817 0.188362859808626 1.0 0.5754586129688233 48 Q9UKG1,P03886,Q8IYB7,P14174,Q9UJW0,P53985,P42771,P16930 8 |
| Deformed sella turcica 0.6418139323518797 1.3129619648057145 0.1891957650272031 1.0 0.5754586129688233 7 Q7RTS9 1 |
| Molluscum contagiosum 0.6324647122692725 1.3129486085800297 0.1892002658736324 1.0 0.5754586129688233 2 Q03426 1 |
| Unusual skin infection 0.6324647122692725 1.3129486085800297 0.1892002658736324 1.0 0.5754586129688233 2 Q03426 1 |
| Cortical myoclonus 0.6324647122692723 1.3129486085800284 0.1892002658736329 1.0 0.5754586129688233 2 P29992 1 |
| Cortical dysplasia 0.4196580664257451 1.3058391568061305 0.1916072609580656 1.0 0.5784435199982081 32 P51659,Q08J23,P15311,O60524,P08243 5 |
| Abnormal t cell subset distribution 0.5016932750858611 1.3051953189140688 0.1918263477593886 1.0 0.5784435199982081 15 Q9H0U3 1 |
| Tetraplegia 0.5008846469985857 1.3004263270018148 0.1934548915432237 1.0 0.5811092091705686 15 O43681,O95831 2 |
| Hypoplastic anemia 0.6294788273615635 1.2989477200345063 0.1939618713712128 1.0 0.5815130881122852 2 Q03426 1 |
| Aplasia hypoplasia of the femur 0.4730545048658018 1.2979979698160802 0.1942880326015477 1.0 0.5817460720415907 18 O95831 1 |
| Nemaline bodies 0.7339107335665475 1.2970368104318246 0.1946185215541946 1.0 0.5820789690851885 4 O43676 1 |
| Centrally nucleated skeletal muscle fibers 0.5858459650862476 1.2948471843442306 0.195372951197756 1.0 0.5820789690851885 9 P51114,P22626,Q13586 3 |
| Platyspondyly 0.390270757949476 1.293347886197916 0.195890765594332 1.0 0.5820789690851885 41 O75874,Q32P28,P48735,P08236,O95831,Q9Y2Q9,Q7RTS9 7 |
| Progressive cerebellar ataxia 0.3845350137842468 1.2901294053061347 0.1970057317457261 1.0 0.5825798312660274 44 Q8N183,Q7KZN9,P41440,Q9BUK6,P30084,O00217,Q96CU9,P35637 8 |
| Apnea 0.3334426664087706 1.289550162864053 0.1972068888946023 1.0 0.5825798312660274 95 P03886,Q8N183,O43772,O15078,Q7KZN9,P51114,P30084,O00217,P51812,Q96CU9,O43683,P23786,P50542 13 |
| Triphalangeal thumb 0.4399025484600178 1.2889146558407596 0.1974277583214148 1.0 0.5825798312660274 27 P18077,P21281,P62899,P46777,Q9BX63,Q15427,Q969E8,P42766,P61254,P62913,P62847 11 |
| Aplasia of the phalanges of the toes 0.6251357220412594 1.278585096301354 0.2010432009827227 1.0 0.586595208848656 2 P02545 1 |
| Aplasia of the proximal phalanges of the hand 0.6251357220412592 1.2785850963013528 0.2010432009827232 1.0 0.586595208848656 2 Q9BXW9 1 |
| Partial absence of thumb 0.6251357220412592 1.2785850963013528 0.2010432009827232 1.0 0.586595208848656 2 Q9BXW9 1 |
| Aplasia of metacarpal bones 0.6251357220412592 1.2785850963013528 0.2010432009827232 1.0 0.586595208848656 2 Q9BXW9 1 |
| Morphological abnormality of the pyramidal tract 0.4456828978319602 1.2763352287555367 0.2018370419691031 1.0 0.5873459223556793 25 P35637,Q9UHD2,O00400,O95831 4 |
| Absent hypoplastic paranasal sinuses 0.7197738056448988 1.2740376792024866 0.2026500629866898 1.0 0.5873459223556793 3 P04066 1 |
| Abnormality of the humerus 0.4841791234433257 1.2725100059364696 0.2031919712246224 1.0 0.5873459223556793 16 Q7RTS9 1 |
| Abnormal oral physiology 0.3654552733574671 1.2686625779143028 0.2045614348413651 1.0 0.5873459223556793 64 Q96T58,Q9BZI7,Q9UQN3,Q9NR77,P55795,P31150,Q14203,Q15165,Q93074,Q8N0X7,Q9BVA1,P49959,P51812,Q92804,Q9UHD2,O43909,Q6UN15,Q9NS87,P43243,P35637 20 |
| Multifactorial inheritance 0.5066906566326933 1.2663683666133352 0.2053812307750224 1.0 0.588041979439475 14 Q8NCM8,Q07812,P42892,P10321 4 |
| Abnormal t cell proliferation 0.7172088384132486 1.2637179176899729 0.2063312916457556 1.0 0.589214139513929 3 P17812 1 |
| Reduced antigen specific t cell proliferation 0.7172088384132486 1.2637179176899729 0.2063312916457556 1.0 0.589214139513929 3 P17812 1 |
| Paroxysmal involuntary eye movements 0.4574339422541744 1.2589003789348951 0.2080663169552243 1.0 0.5913761010578293 21 Q9NPL8,Q8N183,O43676,O00217,Q8TB37,Q96CU9 6 |
| Genital neoplasm 0.3672438171693695 1.255657191775 0.2092402861334799 1.0 0.5942221103475357 50 O75874,O43683,P48735,Q01844 4 |
| Motor neuron atrophy 0.4389515050824129 1.2543940151708903 0.2096988268055393 1.0 0.5943765958351104 26 P31483,Q92734,Q9UHD2,P22626,P38935,Q16637,Q15165,P43243,Q92804,P49768,P35637 11 |
| Malignant genitourinary tract tumor 0.4564638252686049 1.2524465133163536 0.2104072065330464 1.0 0.5950102344168215 21 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Tongue fasciculations 0.5252451110312312 1.2473748000257276 0.2122601021481782 1.0 0.597516978782312 12 P51114,O95831 2 |
| Abnormal cell proliferation 0.6976244150974593 1.2472427110197233 0.2123085164404607 1.0 0.597516978782312 5 O43909,P17812 2 |
| Abnormal mitochondria in muscle tissue 0.441507112343537 1.246941603943433 0.2124189103716811 1.0 0.597516978782312 25 P03886,Q9NPL8,Q8N183,O43676,O00217,O96000,Q8TB37,Q96CU9 8 |
| Axial muscle weakness 0.6581461178790023 1.2468787074166514 0.2124419751596304 1.0 0.597516978782312 6 Q8TD16,P11047,P02545,Q9Y5P6 4 |
| Muscle fibrillation 0.4669255817926965 1.2415419755463215 0.2144056017546582 1.0 0.6001365737074728 17 P51114,Q16637,O95831 3 |
| Dolichocephaly 0.3705630292255942 1.2401051934559562 0.2149364883032984 1.0 0.6001365737074728 48 Q8N201,Q8IYB7,Q03164,P61978,Q9NS87,Q9BX63,Q4J6C6,Q7RTS9,P50542 9 |
| Neoplasm of the pituitary gland 0.4665784738829907 1.2393555715541522 0.2152138470819138 1.0 0.6001365737074728 17 P48735 1 |
| Abnormal proportion of cd8 positive t cells 0.6562930973355839 1.2390018663814544 0.2153448068840271 1.0 0.6001365737074728 6 O43909,O14920 2 |
| Abnormal muscle glycogen content 0.655956106126346 1.2375694128370385 0.2158757617655029 1.0 0.6001365737074728 6 P08237,Q9BUK6,P46976,Q93100 4 |
| Abnormal thoracic spine morphology 0.4108997916180483 1.236969598441269 0.2160983694606186 1.0 0.6001365737074728 32 Q9NSE4,P08236,O95831,O75477,Q7RTS9,P50542 6 |
| Episodic pain 0.5015205206164841 1.2367689623087688 0.216172867947981 1.0 0.6001365737074728 14 Q9UER7,P07686 2 |
| Abnormality of upper limb metaphysis 0.7104207701338157 1.2364135762638324 0.2163048722239355 1.0 0.6001365737074728 3 Q15910 1 |
| Abnormal circulating phenylalanine concentration 0.7102334966410961 1.2356604564024016 0.2165848021479908 1.0 0.6001365737074728 3 P61457 1 |
| Thoracic kyphosis 0.4598653687033107 1.232385339928217 0.2178051745473093 1.0 0.6001562086258928 19 O95831 1 |
| Abnormal thyroid morphology 0.3759207985963108 1.2292233776326869 0.2189880661971863 1.0 0.6021850346455806 45 O75874,P48735 2 |
| Impaired vibration sensation in the lower limbs 0.4638780641353527 1.2223444937954713 0.2215773800410876 1.0 0.6053949070784209 17 O75298,O00400,Q9NR77 3 |
| Wormian bones 0.4518240735179321 1.221574083244497 0.2218687343153407 1.0 0.6054844305353966 21 O95831,A1X283 2 |
| Anisopoikilocytosis 0.713978396897921 1.2185067962080414 0.2230314437149942 1.0 0.6070470003142042 4 O75845 1 |
| Increased mean corpuscular volume 0.4373126379404666 1.2174106413191086 0.2234480163044354 1.0 0.6070470003142042 25 P18077,P62899,Q9NP58,P46777,Q969E8,P42766,P61254,P62847 8 |
| Pseudoarthrosis 0.7056747216942797 1.217330926840001 0.2234783319542261 1.0 0.6070470003142042 3 Q9NWH9,O75844 2 |
| Overtubulated long bones 0.705674721694279 1.217330926839998 0.2234783319542272 1.0 0.6070470003142042 3 O75844,P21281 2 |
| Abnormal sweat gland morphology 0.705674721694273 1.2173309268399748 0.2234783319542361 1.0 0.6070470003142042 3 O75844,O15111 2 |
| Intestinal atresia 0.5193630762477772 1.2155847415790917 0.2241431495518735 1.0 0.6078533326828383 12 Q8IYB7,O43683 2 |
| Abnormal femoral head morphology 0.4439986815798604 1.214298465439955 0.224633771436701 1.0 0.6080693362069775 23 Q7RTS9,O95831 2 |
| Tapered finger 0.3775957798219775 1.210211165552931 0.2261978747281743 1.0 0.6119495363096709 43 P42892,Q9NSE4,Q9H9B1,Q03164,P51812,P23786 6 |
| Telecanthus 0.3693738691303587 1.2073001383197677 0.2273165774356838 1.0 0.6130743177182557 47 Q03164 1 |
| Ileus 0.7110778135264277 1.2070857495418397 0.2273991223311147 1.0 0.6130743177182557 4 Q01844 1 |
| Abnormal circulating aromatic amino acid concentration 0.6870495748079082 1.204499995713177 0.2283963837179059 1.0 0.6132682834298172 5 P61457,P16930 2 |
| Reticulocytopenia 0.4454522942982938 1.2020981631132777 0.2293254979800374 1.0 0.6147220216696051 22 P18077,P62899,P46777,Q969E8,P42766,P61254,P62913,P62847 8 |
| Scaling skin 0.5667061506408435 1.201765963379962 0.2294542160748387 1.0 0.6147220216696051 9 P52732,O75844,O15446,P78536,P50851 5 |
| Myopathy 0.3109077123245445 1.1990982780750847 0.2304897335826443 1.0 0.6167905270671563 115 P11310,P03886,P51114,O43676,P22626,Q9BUK6,Q13586,O14979,P56377,Q86U42,Q8TB37,O95155,P49768,Q13126,Q9Y5P6 15 |
| Abnormality of the nasal tip 0.3114779402812284 1.1980342191639373 0.2309036955808234 1.0 0.617192926030249 110 Q06787,Q93063,P42892,Q8N201,Q03164,P31150,P61978,O95831,A1X283,P51812,P38159,P23786,O43924 13 |
| Abnormal circulating aspartate family amino acid concentration 0.5658383876943627 1.1975460139421388 0.231093803883517 1.0 0.6173487071229381 9 Q99707,P16930 2 |
| Cutaneous photosensitivity 0.430269287367841 1.1923835379238967 0.2331108921667843 1.0 0.618115912530791 26 Q9NP58,P37268,Q08J23,Q9UBM7,P22830 5 |
| Mitochondrial myopathy 0.392376170105731 1.1907561021310566 0.2337493465936311 1.0 0.6187949067823485 35 Q9NPL8,Q8N183,O43676,Q9BUK6,O00217,Q8TB37,Q96CU9 7 |
| Asthma 0.4431370209793775 1.186461693517011 0.2354400205882059 1.0 0.619418885626162 22 Q08J23 1 |
| Abnormal neuron morphology 0.4087799760657001 1.1837968021426146 0.2364935084124231 1.0 0.6198096953236459 31 P31483,O94905,Q92734,Q9UHD2,P22626,Q14203,P38935,Q16637,P22307,Q15165,P43243,Q9UQN3,Q92804,P49768,P35637 15 |
| Cyanosis 0.4545470275219951 1.1798977178573042 0.2380408976572492 1.0 0.6210281469241773 18 P51812,O43772 2 |
| Narrow palpebral fissure 0.4510862035040105 1.175586696754148 0.2397600741357557 1.0 0.6224812253936562 19 Q03164 1 |
| Myelodysplasia 0.3612194001642255 1.1731350516677794 0.240741652206565 1.0 0.6226019044430491 49 P18077,P62899,P46777,Q9BX63,P62847,Q969E8,P42766,Q9BXW9,Q9H1A4,O00165,P61254,P42771,Q01130,P62913,O43683,P62263 16 |
| Periorbital fullness 0.4373739099687525 1.1689546480729178 0.2424219040571118 1.0 0.6261785861552425 23 P31150,P51812,P38159 3 |
| Large basal ganglia 0.4524504750233556 1.1665160588584982 0.2434058596529382 1.0 0.628373561606786 18 O60524,Q08J23 2 |
| Persistence of hemoglobin f 0.4399695656786236 1.1650717112314706 0.2439899665545499 1.0 0.6287770081353865 22 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Abnormality of circulating leptin level 0.7001629549158109 1.1641388515624864 0.2443677460615851 1.0 0.6287770081353865 4 O75844,P51608,P02545 3 |
| Lower limb amyotrophy 0.4361115087626748 1.1603155911347545 0.2459203389703768 1.0 0.6310383273415203 23 O75298,Q9H0B6,O00400,Q9NR77 4 |
| Hypotension 0.4141338011248209 1.1587842638481052 0.2465441333597 1.0 0.6312109053240641 29 Q9UER7,O43681,P07686,O43772 4 |
| Abnormal placental membrane morphology 0.6899065700847906 1.154005988347879 0.2484977138382182 1.0 0.6348689546668719 3 Q9Y244 1 |
| Pure red cell aplasia 0.441515577636883 1.152977024665776 0.2489198149028435 1.0 0.63490822069173 21 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Areflexia of lower limbs 0.4243940119519087 1.150433034672277 0.2499655605927455 1.0 0.6354987623538694 26 Q9H6K4,Q15067,O75477,Q13586,Q16637,P49959,Q9NR77,P07196 8 |
| Secretory diarrhea 0.5974484256243213 1.1489838884624468 0.2505626242542544 1.0 0.6363257968452677 2 Q9H3U1 1 |
| Abnormal hemoglobin 0.4202076718505746 1.146173751346172 0.2517232664345914 1.0 0.6373799736692476 27 Q9UKG1,P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 8 |
| Chronic axonal neuropathy 0.6950210546906341 1.1439285333469695 0.2526532766340039 1.0 0.63843774729091 4 Q96MW5 1 |
| Decreased activity of mitochondrial complex i 0.3772083443434836 1.1431144707182996 0.2529910669193911 1.0 0.63843774729091 38 Q70HW3,P03886,Q9NPL8,Q8N183,O43676,O00217,Q8TB37,Q96CU9 8 |
| Cerebral venous thrombosis 0.5958197611292073 1.1413799092339514 0.2537118615648908 1.0 0.63843774729091 2 P10644 1 |
| Optic neuropathy 0.4229697918199872 1.140267902364316 0.2541747058699615 1.0 0.6391013115400126 26 Q9NPL8,Q8N183,O43676,O00217,Q8TB37,Q96CU9 6 |
| Ovarian neoplasm 0.4262604659934266 1.1396157411089003 0.254446424431336 1.0 0.63925568970598 25 O75874,P48735 2 |
| Abnormal thalamic size 0.6859914351963192 1.1383070515146811 0.2549922905507924 1.0 0.6401309294154248 3 Q9Y5P6 1 |
| Neoplasm of the endocrine system 0.359587145296365 1.1355099250824672 0.2561617257579556 1.0 0.6401309294154248 48 O75874,P48735,P42892 3 |
| Degeneration of the lateral corticospinal tracts 0.5334710598305495 1.1340740712073207 0.2567634788521982 1.0 0.6404631498446284 10 P35637,Q9UHD2,O00400 3 |
| Abnormality of pain sensation 0.3975020191352028 1.1316581340790697 0.2577781891690822 1.0 0.6419300155316817 32 Q06787,P61978,Q13045,O95831,Q9NR77 5 |
| Lower limb asymmetry 0.5714649935920546 1.1315083185465586 0.2578412041885742 1.0 0.6419300155316817 8 O95155,Q15555,Q93063 3 |
| Skin dimple 0.406256528862503 1.1308542689993886 0.2581164339380293 1.0 0.6422737832793789 30 Q03164 1 |
| Abnormal circulating methionine concentration 0.6006385115971382 1.129444997022235 0.258710160034266 1.0 0.6428975371803188 7 Q99707,P16930 2 |
| Episodic tachypnea 0.5708640860595265 1.128696684937918 0.2590258082296879 1.0 0.6428975371803188 8 O15078 1 |
| Ragged red muscle fibers 0.4312980270468305 1.1273850461219648 0.2595797187780277 1.0 0.6431808587500021 23 Q70HW3,P03886,O95831,Q9H2D1,Q9Y5P6 5 |
| Facial erythema 0.6830916610461079 1.1266873518014018 0.2598746919549843 1.0 0.6434105797250321 3 O00170 1 |
| Diarrhea 0.3295525094104331 1.1250620219016794 0.2605627532055363 1.0 0.6445934354260575 86 P11310,P07686,P42892,Q08J23 4 |
| Abnormal mean corpuscular volume 0.4207584015159992 1.1244888777216493 0.2608056862948698 1.0 0.6448537639487197 26 P18077,P62899,Q9NP58,P46777,Q969E8,P42766,P61254,P62847 8 |
| Stereotypy 0.3377494520872452 1.1230429681350098 0.2614192460254187 1.0 0.6450086033387967 80 Q06787,P55795,Q93063,Q9H9B1,P67870,Q03164,Q9NS87,Q13045,Q08J23,O95155,P49768,O60524 12 |
| Immunodeficiency 0.3480921858694041 1.117567206801004 0.263751881058381 1.0 0.6472606217274108 69 Q9UHD2,Q9H0U3,P14174,Q9UJW0,P17812 5 |
| Calvarial hyperostosis 0.6631675750784809 1.1081391501128022 0.2678017253337796 1.0 0.6514959003628699 5 P22626 1 |
| Decreased activity of the pyruvate dehydrogenase complex 0.4373350921019052 1.1050014524237566 0.2691589597808059 1.0 0.6520869389330854 20 Q96CU9,O00217,P30084,Q8N183 4 |
| Abnormal dura mater morphology 0.5879478827361562 1.104673926111544 0.2693009053804371 1.0 0.6520869389330854 2 Q8N3U4 1 |
| Cyclopia 0.5879478827361562 1.104673926111544 0.2693009053804371 1.0 0.6520869389330854 2 Q8N3U4 1 |
| Panhypopituitarism 0.5879478827361562 1.104673926111544 0.2693009053804371 1.0 0.6520869389330854 2 Q8N3U4 1 |
| Median cleft lip 0.5879478827361562 1.104673926111544 0.2693009053804371 1.0 0.6520869389330854 2 Q8N3U4 1 |
| Abnormal 3rd finger morphology 0.5879478827361562 1.104673926111544 0.2693009053804371 1.0 0.6520869389330854 2 Q9Y3E5 1 |
| Generalized hirsutism 0.406621552637813 1.1026828431168731 0.2701649199945672 1.0 0.65248402829699 29 Q6KC79,O15078,Q03164,O95155,Q15555 5 |
| Spinal rigidity 0.4780532980577597 1.102444258429384 0.2702685793181332 1.0 0.65248402829699 14 O94905,Q8NF91,Q9BQP7,P50402,Q5JTV8,Q13642,Q8WXH0,P02545 8 |
| Abnormal sacrum morphology 0.3775597049643885 1.1014085872118533 0.2707188697375724 1.0 0.65248402829699 36 Q03164 1 |
| Partial duplication of the phalanx of hand 0.4304019705423258 1.1004989059686108 0.2711148060355413 1.0 0.6531021793541357 22 P18077,P62899,P46777,Q969E8,P42766,P61254,P62913,P62847 8 |
| Motor axonal neuropathy 0.4416989115467111 1.0979309247616829 0.2722346530224349 1.0 0.6538001571332407 18 P22626,O95831 2 |
| Abnormal insulin level 0.4202389079508364 1.097274440145314 0.2725214406841951 1.0 0.6538001571332407 25 Q8IYB7,P53985,Q9UKG1,O43395 4 |
| Optic disc pallor 0.3510354403507538 1.0966598358337336 0.2727901200888485 1.0 0.6541096427936905 58 Q9Y287,P03886,Q9NPL8,Q8N183,O43676,Q9BUK6,O95831,O00217,Q8TB37,Q96CU9 10 |
| Neoplasm by histology 0.3042886496099681 1.0951555088482643 0.2734485135675797 1.0 0.6550175903002433 119 P29992,P18077,P62899,Q8IYB7,P46777,P48735,P42766,Q96GM5,O43683,O75874,Q93063,P21281,Q15392,Q07812,P42771,Q13126,P61254,Q01844,P49959,P11802,Q92804,O95155,P62847,O43924,Q9BX63,Q969E8,Q9H269,Q15555 28 |
| Alternating esotropia 0.6747216942709802 1.0931909467100422 0.2743099711534977 1.0 0.6557394563102756 3 Q96MW5,P20700 2 |
| Abnormality of exocrine pancreas physiology 0.4354833195692412 1.0928700832519371 0.274450845236541 1.0 0.655741483797307 20 P14174,Q9UJW0 2 |
| Portal fibrosis 0.6817618417221739 1.0919012494602154 0.274876508471126 1.0 0.6564236048803075 4 P06737,P55263 2 |
| Short chin 0.4649793171678985 1.0885418985407338 0.2763559504456112 1.0 0.6584761425215393 15 Q08J23 1 |
| Decreased methylmalonyl coa mutase activity 0.5841476655808902 1.0869851253691545 0.2770433834764558 1.0 0.6586742837235102 2 Q96EY8 1 |
| Abnormal pulmonary interstitial morphology 0.3917564217630772 1.0865731437768638 0.277225499299389 1.0 0.6586742837235102 32 Q8IZA0,P14174 2 |
| Proximal tubulopathy 0.411906016926757 1.086087340540178 0.2774403526339999 1.0 0.6588504925887534 27 P03886,Q9NPL8,Q8N183,O43676,O00217,O96000,Q8TB37,Q96CU9 8 |
| Focal t2 hyperintense basal ganglia lesion 0.4185761704381713 1.085592089996985 0.2776595008941918 1.0 0.6589427348958455 25 Q8N183,Q7KZN9,P30084,O00217,Q96CU9 5 |
| Recurrent bacterial skin infections 0.6800929736573896 1.0853636738355683 0.2777606147094595 1.0 0.6589427348958455 4 P78536 1 |
| Increased muscle glycogen content 0.679871882185615 1.0844977820295074 0.2781441498609036 1.0 0.6595185082524616 4 Q9BUK6,Q93100 2 |
| Sleep wake cycle disturbance 0.6197930655959665 1.084098174339258 0.2783212722375643 1.0 0.6596045131014745 6 Q9NS87 1 |
| Distal lower limb amyotrophy 0.4641456598683645 1.0836297511044386 0.2785289941735818 1.0 0.6596798395340777 15 Q9H0B6,Q9NR77 2 |
| Ventricular arrhythmia 0.3600877539176378 1.083391267154916 0.278634790219604 1.0 0.6596798395340777 45 P03886,P42892,O43772,Q8NF91,P00403,P36551,P23786,Q03001 8 |
| Abnormal larynx physiology 0.4527168256030175 1.0808420730663044 0.2797673696524803 1.0 0.6611967785826527 16 Q92804,Q15165,P35637 3 |
| Iridocyclitis 0.5825190010857763 1.0794112195232346 0.2804044516068074 1.0 0.6613194436208529 2 P17706 1 |
| Wide anterior fontanel 0.4070625657077518 1.0773901250064446 0.281306013912638 1.0 0.661474827743831 28 A1X283,Q32P28,P50542,Q08J23 4 |
| Widened subarachnoid space 0.3943805816765164 1.0726847216525202 0.2834125976601644 1.0 0.6639723420498954 31 P03886,P49419,P31150,O95831,P51812 5 |
| Anterior chamber synechiae 0.5808903365906622 1.07184177061161 0.283791107964404 1.0 0.6639723420498954 2 P17706 1 |
| Central opacification of the cornea 0.5808903365906622 1.07184177061161 0.283791107964404 1.0 0.6639723420498954 2 P17706 1 |
| Exercise induced muscle cramps 0.6168498614496951 1.0716478573227648 0.2838782292529409 1.0 0.6639723420498954 6 P53985,P23786 2 |
| Ventricular hypertrophy 0.3635422840802396 1.0695339210936183 0.2848291524019379 1.0 0.6645235294409553 42 P03886,P46976,O43772,Q8WTW3,P46777,P13807,P00403,Q13642,O00170,P78536,P23786 11 |
| Abnormality of limb epiphysis morphology 0.373728629125793 1.069341546541963 0.2849157961078881 1.0 0.6645235294409553 36 P50542,Q7RTS9,P51812,O95831 4 |
| Abnormal shape of the palpebral fissure 0.4615280980613401 1.0682121758359144 0.2854248136728339 1.0 0.6649972151392444 15 O75179,Q9NS87,P55795,Q9H9B1 4 |
| Metaphyseal irregularity 0.4816046561590043 1.0646801143977929 0.287020711862112 1.0 0.6672571321311652 13 Q7RTS9 1 |
| Abnormal tissue metabolite concentration 0.4311527905309714 1.064518271904088 0.2870939815162416 1.0 0.6672571321311652 20 O43681,P07686,P50542,P51659 4 |
| Hyperlipoproteinemia 0.519642047777784 1.0643534080640484 0.2871686319802782 1.0 0.6672571321311652 10 Q8NF91,P34913,P50402,Q13642,Q8WXH0,Q8N511 6 |
| Increased ldl cholesterol concentration 0.519642047777784 1.0643534080640484 0.2871686319802782 1.0 0.6672571321311652 10 Q8NF91,P34913,P50402,Q13642,Q8WXH0,Q8N511 6 |
| Eeg with focal epileptiform discharges 0.3656973920306247 1.0641743882710275 0.2872497071057931 1.0 0.6672571321311652 40 O75503,P49419,Q08J23,P09471,O60524 5 |
| Limb girdle muscular dystrophy 0.5380566556802162 1.0626613574963717 0.2879355509211452 1.0 0.6676368260927532 9 Q8NF91,P50402,Q13642,Q8WXH0,O14979 5 |
| Non motor seizure 0.3477586847469426 1.0614059004148744 0.2885054765831922 1.0 0.6678737141496471 53 Q9H9B1,P00374,P49419,P31150,P61978,Q8TB37,P51812,P67870 8 |
| Hand muscle weakness 0.4708668426415934 1.0613883305216798 0.2885134579809387 1.0 0.6678737141496471 14 P31483,P07196,Q9NR77,Q14203 4 |
| Meningocele 0.4898874917708714 1.0564715072539457 0.2907528516095095 1.0 0.6694177011245491 12 O15078 1 |
| Viral encephalitis 0.6646755362476031 1.0530866930337892 0.292301261067029 1.0 0.6703477979794932 3 Q9UHD2,P42224 2 |
| Narrow pelvis bone 0.5762757871878393 1.050420768252296 0.2935247012727464 1.0 0.6717667972249998 2 Q96DX4 1 |
| Sparse lateral eyebrow 0.553896374337348 1.0494426712552056 0.293974427578147 1.0 0.6718867298564151 8 Q08J23 1 |
| Proximal upper limb amyotrophy 0.5537612372430505 1.0488127834440706 0.2942642927472789 1.0 0.6718867298564151 8 Q8NF91,P50402,Q13642,Q8WXH0,O14979 5 |
| Abnormality of the musculature of the upper arm 0.5537612372430505 1.0488127834440706 0.2942642927472789 1.0 0.6718867298564151 8 Q8NF91,P50402,Q13642,Q8WXH0,O14979 5 |
| Agenesis of cerebellar vermis 0.670588110254947 1.0481857553280134 0.2945530321821152 1.0 0.6722182503454415 4 O15078 1 |
| Abnormality of hepatobiliary system physiology 0.3162922801450312 1.0471989943855708 0.2950078090047938 1.0 0.6729281878078176 93 P50542,P11310,O43772,Q9UER7 4 |
| Abnormal femoral neck morphology 0.3560222181691631 1.0460848434199697 0.2955218622896378 1.0 0.673117160069248 45 Q96MW5,Q93063,Q8WTW3,O95831,P04066,P51812,Q7RTS9,P50542 8 |
| Coarse facial features 0.3322468198531663 1.0448186359874967 0.29610680003392 1.0 0.6737940449751445 79 Q06787,P07686,Q93063,Q9H9B1,P61978,Q9NS87,P08236,O95831,A1X283,P56377,P51812,P38159,Q7RTS9 13 |
| Abnormal c reactive protein level 0.5805369406629011 1.040180208569785 0.2982561846855756 1.0 0.6766599206783296 7 P14174 1 |
| Limitation of knee mobility 0.5518524964084647 1.039918658627623 0.2983776929747492 1.0 0.6766599206783296 8 Q7RTS9 1 |
| Progressive hearing impairment 0.4456351582646205 1.0378056729593346 0.2993605351934476 1.0 0.6779039585642723 16 P03886,P00403,Q9NSE4,Q86SK9 4 |
| Small placenta 0.6599356421426149 1.0342099569467362 0.3010380203325702 1.0 0.6789661883890686 3 O75844 1 |
| Short umbilical cord 0.6599356421426149 1.0342099569467362 0.3010380203325702 1.0 0.6789661883890686 3 O75844 1 |
| Abnormality of neutrophil morphology 0.6079714818530154 1.0341504126351595 0.3010658517383624 1.0 0.6789661883890686 6 P41440,Q92925,P35579,P62263 4 |
| Round face 0.4080338763313634 1.0338552705775852 0.3012038283929115 1.0 0.6789661883890686 26 Q9Y2Q9,Q03164,Q32P28,Q9NS87 4 |
| Tetraplegia tetraparesis 0.3442706460473538 1.03192680678178 0.3021064069344494 1.0 0.6800708980118728 50 Q9UHD2,P49768,O95831,O43681,Q7RTS9,P35637 6 |
| Cervical ribs 0.6589736627749229 1.0303827555702012 0.3028303649929253 1.0 0.6801700715884266 3 Q9UHX1,Q9Y5S9 2 |
| Abnormality of lens shape 0.5713897937024971 1.0277849009506774 0.3040510203094491 1.0 0.6815824381835713 2 P11047 1 |
| Abnormal circulating cholesterol concentration 0.3793915578196056 1.0248427729345584 0.305437380514443 1.0 0.6825645568994464 33 P06737,Q9Y6B6,O75845,Q15392,Q8NF91,P34913,Q13045,Q15800,P37268,Q9UBM7,Q13642,Q8N511 12 |
| Abnormal muscle fiber protein expression 0.5480254656108559 1.0221020552044795 0.3067326005630522 1.0 0.6837733598260255 8 Q8NF91,P50402,Q13642,Q8WXH0,P02545,Q9Y5P6 6 |
| Aplasia hypoplasia of the humerus 0.5294860778504018 1.0212097933475588 0.3071550534312752 1.0 0.6837733598260255 9 P50542 1 |
| Abnormality of glycolipid metabolism 0.5477698197120648 1.0209127161381846 0.3072957939178489 1.0 0.6837733598260255 8 P07686 1 |
| Muscle weakness 0.2887175075924988 1.0207022743328489 0.3073955166674964 1.0 0.6837733598260255 339 P11310,P03886,Q9NPL8,O43772,O75298,P51114,Q9BUK6,O95831,O43681,O00217,Q9NR77,O14979,O00400,Q9Y5P6,Q70HW3,Q06787,Q8N9N2,P07686,P00374,P41440,P31150,Q9NP58,Q9Y3C8,Q13586,Q16637,Q15165,Q96CU9,Q7RTS9,Q13126,P50542,Q8N183,Q93100,P61978,P22626,Q86U42,Q15043,P51812,Q92804,P23786,Q9UHD2,Q92734,O43676,Q6DKK2,Q8TB37,P09471,P35637 46 |
| Hematological neoplasm 0.3158615514594758 1.019442446274056 0.3079929635434215 1.0 0.6845425003672725 90 Q9H0U3,Q969E8,Q08J23,O00165,O43683,P17812 6 |
| Juvenile onset 0.3528382795058852 1.0169289936827348 0.3091872094183676 1.0 0.685894695265853 45 Q9NR77,Q9H0U3 2 |
| Aplasia hypoplasia involving the pelvis 0.4286864842317925 1.015115394279961 0.3100508242497015 1.0 0.6868344417981799 18 O95831 1 |
| Increased nuchal translucency 0.4308613837590939 1.0146242315161211 0.3102849840633457 1.0 0.6870281703870675 17 Q6KC79,O43683,P61978 3 |
| Dyscalculia 0.4522545203336122 1.013678479310981 0.3107361962718691 1.0 0.6870774050134858 15 P35637,P49768,P22626,Q9UHD2 4 |
| Tongue thrusting 0.6610890321299251 1.0111413052772813 0.3119488033302902 1.0 0.6870774050134858 4 Q9NS87,P51608 2 |
| Malabsorption 0.3415308477076354 1.00982093160111 0.3125810898637002 1.0 0.6875014475602915 62 P14174,P50542,Q08J23 3 |
| Respiratory insufficiency 0.2827484031668352 1.0058818748361025 0.3144723961119124 1.0 0.6901003894058511 206 P03886,Q9NPL8,O43772,O95831,Q08J23,O00217,Q9NR77,Q9Y5P6,Q70HW3,Q8N9N2,P49419,Q16637,Q15165,Q96CU9,Q7RTS9,P50542,Q8N183,Q92804,Q9UHD2,O43676,Q8TB37,P35637 22 |
| Nausea and vomiting 0.291481940545238 1.0006848913094208 0.3169791740728755 1.0 0.6923649580767812 158 P11310,P03886,Q9NPL8,Q9Y584,O00217,Q93063,P42892,Q15165,Q96CU9,Q8N183,P61978,Q8IZA0,Q9UER7,Q01844,Q92804,Q9UHD2,O43676,Q8TB37,P35637 19 |
| Temporal cortical atrophy 0.5997070766849139 0.9993415206212056 0.3176292782449608 1.0 0.6924971422125548 6 P49768,O43924,Q8WTW3 3 |
| Hyperphosphatemia 0.6506803785695723 0.9974478929777646 0.3185471542475264 1.0 0.6926835196281305 3 P29992 1 |
| Recurrent staphylococcal infections 0.5646036916395222 0.9964328642577936 0.3190398716425564 1.0 0.6926835196281305 2 O95394 1 |
| Recurrent staphylococcus aureus infections 0.5646036916395222 0.9964328642577936 0.3190398716425564 1.0 0.6926835196281305 2 O95394 1 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.6564691299928276 0.9931713624777312 0.3206264516777444 1.0 0.693653170563198 4 Q9NS87,Q9BXW9 2 |
| Bilateral tonic clonic seizure 0.3053301063107497 0.9926178587861156 0.3208962182977797 1.0 0.693653170563198 102 P11310,P07686,P49419,P31150,P51812,Q9NQZ5,P49768,P50542 8 |
| Hamartoma 0.4084238084616011 0.991914036265352 0.3212394614226426 1.0 0.693653170563198 24 O75874,Q8IYB7,P48735,P11802,O43924 5 |
| Hypotelorism 0.3594639793278321 0.9909295452521862 0.3217199842970886 1.0 0.693653170563198 38 P55795,Q9BUK6,Q08J23 3 |
| Poor eye contact 0.3538394697626965 0.9833801603398904 0.3254203709923036 1.0 0.6971379676838783 42 P03886,Q9NPL8,Q8N183,O43676,O00217,Q8TB37,Q96CU9 7 |
| Embryonal renal neoplasm 0.4665611262279051 0.9814974891654188 0.3263474719845649 1.0 0.6977139083682504 13 O43683,Q93063 2 |
| Intestinal polyp 0.4037084784708047 0.98141614709975 0.3263875666462366 1.0 0.6977139083682504 25 O43683 1 |
| Abnormal lung lobation 0.4466869118466028 0.9810222126984712 0.3265817878060573 1.0 0.6977139083682504 15 Q9UBM7,O43683 2 |
| Bone pain 0.4005889011671911 0.9810194521937892 0.3265831490803341 1.0 0.6977139083682504 26 P48735 1 |
| Type 1 muscle fiber atrophy 0.5387559125844297 0.9790502545232184 0.327555149220847 1.0 0.6987051853989331 8 Q8NF91,P61978,P50402,Q13642,Q8WXH0 5 |
| Broad based gait 0.3821454824473473 0.978701290233788 0.3277275943946087 1.0 0.6987051853989331 31 Q03164 1 |
| Abnormality of the nasal septum 0.6306977663076523 0.9779651828709228 0.3280915444570262 1.0 0.6987051853989331 5 P21281,P51812 2 |
| Scotoma 0.4457117951900894 0.975310620420602 0.3294062039314767 1.0 0.7005491612221186 15 Q9Y287,P03886,O43395 3 |
| Abnormal csf metabolite level 0.3370102581488174 0.9747899527408564 0.3296644619362099 1.0 0.7005963178386919 65 Q9NPL8,Q8N183,Q7KZN9,Q9UHD2,O43676,P30084,O95831,O00217,Q8TB37,Q96CU9,P49247 11 |
| Impaired proprioception 0.344310347847712 0.9721240770354896 0.3309888254147441 1.0 0.702040545705053 47 Q06787,Q9Y6B6,Q9H6K4,O75298,P41440,O00165,Q9NR77,Q8IV08,Q9H0B6,O00400 10 |
| Abnormal paranasal sinus morphology 0.3990728665406934 0.9702841748610204 0.3319048631828307 1.0 0.7028914470524924 26 P28070,Q06787,Q9H0U3 3 |
| Ambiguous genitalia 0.4017613860143628 0.9678233068526992 0.3331326217357684 1.0 0.7038854154664368 25 O43683,O15078 2 |
| Contractures involving the joints of the feet 0.4048973735865268 0.9676292845489808 0.333229546463611 1.0 0.7038854154664368 24 Q08J23 1 |
| Abnormal number of erythroid precursors 0.4016561449727453 0.967089019559065 0.3334995341962519 1.0 0.7041033248276104 25 P18077,P62899,P46777,Q969E8,P42766,P61254,P62913,P62847 8 |
| Muscle abnormality related to mitochondrial dysfunction 0.3518436271971949 0.965728765368591 0.3341799216593513 1.0 0.7041033248276104 42 Q9NPL8,Q8N183,O43676,Q9BUK6,O00217,Q8TB37,Q96CU9 7 |
| Increased total bilirubin 0.648853015055484 0.9636231815734396 0.3352348802690934 1.0 0.7050117928554724 4 P23786 1 |
| Myofibrillar myopathy 0.6267151582252712 0.9621034306193488 0.3359976510146907 1.0 0.7055931806911148 5 O75190 1 |
| Limb fasciculations 0.6483835890228413 0.9618052827732688 0.3361474238996107 1.0 0.7055931806911148 4 Q16637 1 |
| Non midline cleft palate 0.6393643951140167 0.9527041817831896 0.3407399739736996 1.0 0.710526388804134 3 O15111 1 |
| Bilateral cleft palate 0.6393643951140167 0.9527041817831896 0.3407399739736996 1.0 0.710526388804134 3 O15111 1 |
| Limb ataxia 0.3899630227469105 0.9523387375662792 0.3409252179463782 1.0 0.710526388804134 28 O75298,P41440,Q9BUK6,Q9NR77 4 |
| Muscular dystrophy 0.3820844647652697 0.948159207194038 0.3430484105713909 1.0 0.7136809003579847 30 O43683,O14979,Q9Y5P6 3 |
| Concentric hypertrophic cardiomyopathy 0.6227429622828541 0.946312321963906 0.3439893103941518 1.0 0.7141953834396464 5 P03886 1 |
| Abnormality of the musculature of the thigh 0.5132170664758638 0.9428888549654756 0.3457377561236128 1.0 0.7141993435936828 9 Q8NF91,P50402,Q13642,Q8WXH0,O14979,P07196 6 |
| Chronic diarrhea 0.4096880914113145 0.9420038835689444 0.3461906516117794 1.0 0.7145045489193314 21 Q08J23 1 |
| Osteosarcoma 0.3949505412913665 0.9411411930898324 0.3466325081217252 1.0 0.7151013372396648 26 P18077,P62899,P46777,Q969E8,P42766,P61254,P42771,P62847,Q13126 9 |
| Abnormality of retinal pigmentation 0.3114215334819005 0.9380025833253848 0.3482430825198557 1.0 0.7171602266668796 88 O15078,Q8N183,Q7KZN9,Q9BUK6,P30084,O00217,P51812,Q96CU9,O43395,P50542,Q9Y5P6 11 |
| Mild hearing impairment 0.458390586856533 0.9365329582879944 0.3489988515168476 1.0 0.7177314738114401 13 P31150 1 |
| Poikilocytosis 0.4179354682188094 0.9338150656239742 0.3503992967595737 1.0 0.7184412901598439 17 Q9NP58,P41440 2 |
| Mild postnatal growth retardation 0.6334509910399222 0.9294255268339664 0.3526686037980262 1.0 0.7202134101222153 3 Q9Y3E5,P10644 2 |
| Dyspareunia 0.6332346922858211 0.9285755150598736 0.3531091158745689 1.0 0.7202134101222153 3 O00170 1 |
| Lactose intolerance 0.632636437686659 0.9262250496253892 0.3543290371631076 1.0 0.7212549647389314 3 Q14566,P42345 2 |
| Multiple joint contractures 0.3988518737974892 0.9261080106918144 0.354389851348341 1.0 0.7212549647389314 24 P41440,Q15043,Q9Y5P6 3 |
| Thick eyebrow 0.3321478435418762 0.9124896626736388 0.3615110088120796 1.0 0.7297224371840384 51 Q03164,O95831 2 |
| Malignant neoplasm of the central nervous system 0.387467245115804 0.9102839107554016 0.3626728013832252 1.0 0.7306917314447796 27 O75874,P48735 2 |
| Abnormal reticulocyte morphology 0.3545532592027491 0.9098461881188212 0.3629036321680479 1.0 0.7306917314447796 36 P18077,P62899,Q9NP58,P46777,Q969E8,P42766,P08237,P61254,P62913,P62847,P36551 11 |
| Adenocarcinoma of the colon 0.4004823529375287 0.8997442856616436 0.3682563499798261 1.0 0.7354134272731453 22 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Prominent supraorbital ridges 0.4515818844055761 0.8992162270478822 0.3685374986396068 1.0 0.7356142895791934 13 P38159 1 |
| Cone shaped epiphysis 0.407945561750367 0.8978556218128443 0.3692625265377045 1.0 0.7356142895791934 19 Q9Y2Q9,Q7RTS9,O15078,O95831 4 |
| Aplasia of the phalanges of the hand 0.6253054575074737 0.8974918803462236 0.3694565041832631 1.0 0.7356142895791934 3 P02545,Q9BXW9 2 |
| Aplasia involving bones of the lower limbs 0.6253054575074694 0.897491880346207 0.369456504183272 1.0 0.7356142895791934 3 Q8NCM8,P02545 2 |
| Impaired glucose tolerance 0.5750569818957296 0.8962577504021442 0.3701151183761393 1.0 0.735774455610856 6 Q9UKG1 1 |
| Hyperhomocystinemia 0.6095206579010077 0.8939847318745499 0.3713300603073395 1.0 0.7368384205166403 5 P41440 1 |
| Echolalia 0.4505416938219873 0.893529254204844 0.3715738130973753 1.0 0.7368516938675365 13 Q9H9B1,Q01082,Q9UQN3,P49768,P53701 5 |
| Flat acetabular roof 0.5027806172677242 0.8929822145125995 0.371866697237512 1.0 0.7368516938675365 9 Q7RTS9 1 |
| Postaxial foot polydactyly 0.4503155004866547 0.8922931260862043 0.3722358377045527 1.0 0.7368516938675365 13 O75845,O15078,Q8NCM8,Q9UBM7,O43924 5 |
| Abnormality of the 5th toe 0.4503155004866547 0.8922931260862043 0.3722358377045527 1.0 0.7368516938675365 13 O75845,O15078,Q8NCM8,Q9UBM7,O43924 5 |
| Gonadal neoplasm 0.3704766692727077 0.8897210583195658 0.3736156837411069 1.0 0.7371434144455314 31 O75874,P48735 2 |
| Absent forearm bone 0.6081538071268143 0.8885982629493431 0.3742190249605246 1.0 0.7378811342695312 5 Q15427,Q9Y5S9,Q9BXW9 3 |
| Developmental glaucoma 0.3740061734967934 0.8876667648326193 0.3747200284804584 1.0 0.7385223059498385 30 P18077,P62899,P46777,Q969E8,P42766,A1X283,P61254,P62847 8 |
| Bile duct proliferation 0.6074461626877328 0.8858114045502405 0.3757191632690222 1.0 0.7386619821951431 5 O15078 1 |
| Ambiguous genitalia male 0.622001416796538 0.8845861965615058 0.3763798541460199 1.0 0.739340124566196 3 Q15392 1 |
| Flat face 0.3611975925921638 0.8809682394755847 0.3783350106516976 1.0 0.7406951734456103 33 Q03164,P50542,Q9H9B1 3 |
| Aplasia of the fingers 0.3729159598323798 0.8795343604417157 0.3791116111930588 1.0 0.7419054221550749 30 Q6KC79,P18077,P62899,P46777,Q15427,Q969E8,P42766,P61254,P62913,P62847 10 |
| Limited elbow extension 0.4381931436991005 0.8760973460625503 0.3809771154205301 1.0 0.7443119864473687 14 Q93074,Q6KC79,Q9H6K4,Q15427,Q7RTS9 5 |
| Aplasia involving bones of the extremities 0.6254752851711088 0.8736455374237289 0.3823113189957179 1.0 0.7453164241931608 4 Q8NCM8,P02545,Q9BXW9 3 |
| Abnormal bronchus morphology 0.3820402922548858 0.8716095694509902 0.3834214083936209 1.0 0.746595615595562 27 Q9H0U3 1 |
| Death in childhood 0.3785347183974223 0.869486767528256 0.3845809426516364 1.0 0.7475652955226157 28 P07686,P50542 2 |
| Rotary nystagmus 0.6243212626690955 0.8692369039208516 0.3847175661348503 1.0 0.7475652955226157 4 O94905,Q5T8D3 2 |
| Thoracic scoliosis 0.4443388514042831 0.8597031726470036 0.3899526854564983 1.0 0.7518107970328455 13 P50542,Q9NSE4,O75477 3 |
| Poor motor coordination 0.4255530773112995 0.8579285580832944 0.3909319137430405 1.0 0.7527689769978037 15 O75503,Q9Y5P6 2 |
| Weakness of muscles of respiration 0.3444248388135889 0.8566978450041476 0.3916118946279758 1.0 0.7537683939756723 37 Q15067,Q8NF91,Q9BQP7,P22626,O95831,P50402,P36551,Q13642,P43243,Q7RTS9 10 |
| Abnormal abdomen morphology 0.2843507895132947 0.8557717097420511 0.3921240663360679 1.0 0.7538247137322686 256 P11310,P07686,Q8N183,O43772,Q9H0U3,P00374,P28070,O43676,Q9NPL8,P14174,Q9UJW0,Q9UER7,O00217,Q01844,Q96CU9,O43683,P50542 17 |
| Abnormal cranial nerve physiology 0.3023160800341598 0.8546384726498006 0.3927513220274208 1.0 0.7542812515984219 91 O75874,P31150,P48735,Q15043,P51812,Q9NR77,P50542,Q9Y5P6 8 |
| Positive romberg sign 0.477162499888887 0.8523733539605901 0.3940069044871603 1.0 0.7546956709726639 10 Q8IV08,P41440 2 |
| Abnormal lymphocyte morphology 0.3437045187494113 0.8506923218619145 0.3949402894806981 1.0 0.7551417460682243 37 P28070,Q9H0U3 2 |
| Reduced consciousness confusion 0.2868141957696103 0.8498226995587105 0.3954236673589992 1.0 0.7555157218450402 143 P11310,P03886,P18077,Q9NPL8,O43772,P42766,O43681,O00217,Q96CU9,Q8N183,O96000,P00403,P62847,P23786,Q9UHD2,O43676,Q969E8,P20674,Q9UBM7,P36551,Q8TB37,P49768 22 |
| Acute myeloid leukemia 0.3503482681519028 0.8466096994493727 0.3972127057795727 1.0 0.7570998820446067 35 P18077,P62899,P46777,Q969E8,P42766,P61254,P62263,P42771,Q01130,P62913,P62847 11 |
| Abdominal pain 0.3011594647766031 0.846355092558059 0.3973546825103193 1.0 0.7570998820446067 92 Q70HW3,P07686,P42892,P14174,Q9UER7,Q01844 6 |
| Abnormal circulating metabolite concentration 0.2657871626844118 0.845590103103258 0.3977814485179118 1.0 0.7570998820446067 395 P11310,P03886,Q9NPL8,O43772,P48735,Q9BUK6,P14174,O95831,Q08J23,Q15800,P53985,O00217,O14979,O00400,Q9Y5P6,Q70HW3,Q15392,P61457,P41440,Q96CU9,P50542,Q9UKG1,Q8NI22,Q8N183,P28070,P22626,P37268,Q15043,P22830,Q8N511,P49247,Q9UHD2,O43676,Q8TB37,P49768 35 |
| Menorrhagia 0.6178152598995497 0.8444495076932345 0.3984182672758356 1.0 0.7572521421970495 4 Q8NI22 1 |
| Excessive salivation 0.3533507082608609 0.844130810705021 0.3985963123031661 1.0 0.7572521421970495 34 Q96T58,Q93074,Q8N0X7,P55795,O43909,P31150,Q9NS87,Q9BVA1,P49959,Q9NR77,P51812 11 |
| Cough 0.367979188564632 0.842816281417194 0.399331200768338 1.0 0.7582063011519969 30 Q9NR77 1 |
| Abnormal pancreas morphology 0.3969885248360529 0.8426533095583932 0.3994223670599992 1.0 0.7582063011519969 20 Q96T58,Q9UKG1,Q5F1R6,O15078,Q8IYB7,Q9Y3E5,Q9BXW9,O95155,Q9Y5S9 9 |
| Dysuria 0.5087101242533367 0.8409046643254945 0.4004013451803243 1.0 0.7590288373719434 8 Q8N0X7,O00170 2 |
| Abnormal pupillary function 0.4577399316333397 0.8407483016209903 0.400488954939447 1.0 0.7590288373719434 11 Q9NR77 1 |
| Emotional lability 0.3251006512731207 0.8398304489004423 0.4010034584932613 1.0 0.7592650013334227 61 Q9UHD2,Q8N183,Q7KZN9,P30084,Q15165,O00217,Q96CU9,Q92804,P35637 9 |
| Biparietal narrowing 0.440644228391386 0.8396315308476244 0.4011150145844304 1.0 0.7592650013334227 13 Q9UBM7,O75845,O15078,O43924 4 |
| Leukoencephalopathy 0.2862488403697875 0.8357978132536915 0.4032686569072625 1.0 0.7614948065712542 110 P49247,O75503,Q9NPL8,Q8N183,Q53FT3,P03886,O43676,O95831,O15121,O00217,Q8TB37,Q96CU9,Q9Y5P6 13 |
| Restrictive cardiomyopathy 0.6085728537071691 0.8324500453858441 0.4051549639202192 1.0 0.7638247568592538 3 Q969N2 1 |
| Exaggerated cupid s bow 0.5930762852149818 0.8295105122252947 0.4068155908570638 1.0 0.7655958922043758 5 P61978 1 |
| Abnormal gastrointestinal motility 0.354547942180196 0.8289579415859328 0.4071282067385244 1.0 0.7655958922043758 33 P03886,Q9NSE4,P61978,Q9UBM7,Q01844,P00403,P42771,P11802,P16930,P35637 10 |
| Pierre robin sequence 0.4891409411468065 0.8282814857865985 0.4075111054275324 1.0 0.7658003638511776 9 O75179,Q8WTW3 2 |
| Abnormal facial expression 0.3393131008904089 0.8276771288712645 0.4078533750234654 1.0 0.7661361232390247 39 Q06787,P49419,Q9BUK6,Q15043,Q9NR77,Q9Y5P6 6 |
| Abnormality of the hypothalamus pituitary axis 0.315968888228125 0.8255361919637311 0.4090672440996408 1.0 0.7674412242947981 76 O75874,Q03164,P48735,O15078 4 |
| Abnormal erythrocyte enzyme level 0.3918086214210897 0.8249578310209869 0.4093955318364211 1.0 0.7674412242947981 21 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Abnormal circulating proline concentration 0.6064853854643066 0.8243950115890594 0.4097151483541565 1.0 0.7674412242947981 3 P20674 1 |
| Porokeratosis 0.5917423467348295 0.8243145256472616 0.4097608672088479 1.0 0.7674412242947981 5 Q9H1A4,Q03426 2 |
| Redundant neck skin 0.4702107055215906 0.8182105566507676 0.4132369682527752 1.0 0.7709915228397396 10 O96000,A1X283 2 |
| Abnormal b cell morphology 0.4861564376826403 0.8142177381775412 0.4155202254624037 1.0 0.7729365583802743 9 O14920,P17812 2 |
| Lacrimal duct atresia 0.5241585233441908 0.8125016818686709 0.4165038219018542 1.0 0.77308832517326 2 A6NHR9 1 |
| Dysesthesia 0.5019525866389123 0.8102314180967836 0.4178071834829557 1.0 0.7732187000821874 8 Q9NR77 1 |
| Dyspnea 0.2841046333918337 0.8082720893440652 0.4189339661035121 1.0 0.7732187000821874 115 P11310,Q9UHD2,P49419,O95831,Q15165,O60524,Q92804,P35637 8 |
| Emg slow motor conduction 0.6022264458322161 0.8080057174015649 0.4190872908219187 1.0 0.7732187000821874 3 Q6DD88,O15270 2 |
| Trophic changes related to pain 0.6022264458322161 0.8080057174015649 0.4190872908219187 1.0 0.7732187000821874 3 Q6DD88,O15270 2 |
| Penetrating foot ulcers 0.6022264458322161 0.8080057174015649 0.4190872908219187 1.0 0.7732187000821874 3 Q6DD88,O15270 2 |
| Knee clonus 0.6021669111999741 0.8077770543659597 0.4192189364741989 1.0 0.7732187000821874 3 O75298 1 |
| Widely patent fontanelles and sutures 0.552896919417492 0.8049055422525843 0.4208741899294801 1.0 0.7736720958812384 6 P98175,O75844,Q93074 3 |
| Abnormal ileum morphology 0.3924463723016659 0.7996467727601443 0.4239154799761757 1.0 0.7760735702613101 19 Q93074,Q8IYB7,P31150,Q9BX63,Q9BXW9,Q9BZI7,P51812,Q9Y5S9 8 |
| Hyperlipidemia 0.3505133926362287 0.7976004299547317 0.4251024014501539 1.0 0.7773348481027218 33 P06737,Q8NI22,Q92734,Q8NF91,P28070,Q13045,Q13642,P22830,Q9Y285,P23786 10 |
| Agitation 0.3362046450723837 0.7884961156669609 0.4304065697493855 1.0 0.7821474451441104 37 Q9UHD2,P42892,Q15165,Q92804,P35637 5 |
| Gastrointestinal atresia 0.3901506848424184 0.7852224384989994 0.4323231617048699 1.0 0.7838054069933821 19 Q8IYB7,Q8NCM8,Q9BXW9,Q9Y2W2,Q96GM5,O43683 6 |
| Gastrointestinal obstruction 0.388814155307038 0.7768415185693585 0.4372522779704821 1.0 0.788528194533393 19 Q93063,P42892,P16930,Q01844 4 |
| Limb pain 0.4608458997742847 0.772529675692393 0.4398007777003097 1.0 0.7906200500920231 10 O95140,Q6DD88,P36551,O75477 4 |
| Delayed cns myelination 0.3340708048302531 0.7709224180224127 0.4407529183386678 1.0 0.791021844793173 37 P49419,O95831 2 |
| Cutis marmorata 0.3877934787719696 0.7704498269198476 0.4410331062897661 1.0 0.791021844793173 19 Q6KC79,P51812,Q08J23 3 |
| Abnormality of the periorbital region 0.3051632524790936 0.769690025120514 0.4414837884745362 1.0 0.791149631944146 82 Q96T58,Q08J23,Q9BZI7,Q15056,Q8N1F7,P31150,Q14C86,P50542,P98175,Q93074,P28070,Q9Y244,P51812,P38159,O00170,Q9Y5K6,P52732,O75179,Q9NS87,P51608,Q13642 21 |
| Paralysis 0.3181496064311154 0.7692753168767722 0.4417298870329886 1.0 0.791149631944146 56 Q9UHD2,Q8NF91,Q9NP58,Q9UQN3,Q14203,P38935,P50402,Q15165,P36551,Q13642,P16930,Q9NR77,Q92804,P43243,P35637 15 |
| Bone fracture 0.4927172290941803 0.7686150157137694 0.44212188879867 1.0 0.791149631944146 8 Q13126 1 |
| Wide nose 0.3313340057462338 0.7682110710739408 0.4423617971978457 1.0 0.791149631944146 40 Q03164 1 |
| Optic nerve hypoplasia 0.3851458736121008 0.767049554873067 0.4430520528062223 1.0 0.791149631944146 20 Q93074,Q9Y5P6,O75312,P61978,P37268,P07196 6 |
| Young adult onset 0.4262026387913376 0.7618246055909462 0.4461646928064851 1.0 0.7929313541515112 13 Q14566,P38435,Q9H269,Q9H0U3 4 |
| Adult onset 0.3074377029096179 0.760575182108189 0.4469108479090746 1.0 0.7929313541515112 79 Q06787,Q9UHD2,Q92734,Q9H0U3,Q8NF91,P41440,Q9H269,Q13586,Q16637,Q86U42,P38435,Q9NQZ5,Q8IV08,Q14566,P49768,O14979 16 |
| Stuttering 0.5419181448905787 0.7602654004322614 0.4470959591439793 1.0 0.7929313541515112 6 P03886 1 |
| Increased csf lactate 0.3172843244368321 0.7599007365456658 0.4473139213280559 1.0 0.7929313541515112 58 Q9NPL8,Q8N183,Q7KZN9,O43676,P30084,O95831,O00217,Q8TB37,Q96CU9 9 |
| Insulin resistant diabetes mellitus 0.4742215206358792 0.7583719245192364 0.4482283604367929 1.0 0.7930636150537785 9 Q9UKG1,O75844,P02545 3 |
| Localized osteoporosis 0.5119435396308359 0.7583055697979469 0.4482680736808353 1.0 0.7930636150537785 2 P82650 1 |
| Ascending tubular aorta aneurysm 0.5410101729392789 0.7565949400463243 0.4492925737227007 1.0 0.7937778628325471 6 Q93074,Q06787,O75844,P01889 4 |
| Abnormality of the septum pellucidum 0.3239517995059515 0.7565040639005064 0.4493470367796259 1.0 0.7937778628325471 45 Q15392,Q9H9B1,Q15910,Q9BVA1,Q08J23,Q13409,O60524,P15311,Q9Y5S9,P53701 10 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 0.5108577633007599 0.7535269356008804 0.4511333314613273 1.0 0.7937778628325471 2 P49327 1 |
| Coombs positive hemolytic anemia 0.5108577633007599 0.7535269356008804 0.4511333314613273 1.0 0.7937778628325471 2 P49327 1 |
| Increased b cell count 0.5108577633007599 0.7535269356008804 0.4511333314613273 1.0 0.7937778628325471 2 P49327 1 |
| Burkitt lymphoma 0.5108577633007599 0.7535269356008804 0.4511333314613273 1.0 0.7937778628325471 2 P49327 1 |
| Abnormal proportion of double negative alpha beta regulatory t cell 0.5108577633007599 0.7535269356008804 0.4511333314613273 1.0 0.7937778628325471 2 P49327 1 |
| Neoplasm of the genitourinary tract 0.3014996560455227 0.7535199860839298 0.4511375059087594 1.0 0.7937778628325471 84 P18077,P62899,Q8IYB7,P46777,P48735,P42766,O43683,O75874,Q93063,Q07812,P42771,P62913,Q9NWH9,P61254,Q01844,P49959,P62847,Q92733,Q9BX63,Q969E8 20 |
| Restlessness 0.3249975643198456 0.7533829498737495 0.4512198255133759 1.0 0.7937778628325471 44 Q9UHD2,P42892,P49419,Q15165,Q92804,P35637 6 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.5145286492219862 0.7528086415547087 0.4515649131472283 1.0 0.7937778628325471 7 P50402,Q13642,Q8WXH0,Q8NF91 4 |
| Absent thumb 0.3621466303453458 0.7522936206681624 0.4518745033499738 1.0 0.7937778628325471 28 P18077,P62899,P46777,Q15427,Q969E8,P42766,P61254,P62913,P62847 9 |
| Abnormality of the pituitary gland 0.3145450310314422 0.7500071489018801 0.4532503991613692 1.0 0.7942356834095733 67 O75874,Q03164,P48735 3 |
| Proximal muscle weakness in upper limbs 0.4067016237037862 0.7498581156737557 0.4533401626636322 1.0 0.7942356834095733 15 Q8NF91,P50402,P07196,Q13642,Q8WXH0,P36551,P02545,Q9Y5P6 8 |
| Postural tremor 0.3820480413843864 0.7474378839423711 0.4547992847127573 1.0 0.7948722126275782 20 Q06787,P03886,P35637,Q9NR77 4 |
| Open mouth 0.3346369627289769 0.7472848496652577 0.4548916356698504 1.0 0.7948722126275782 36 Q93074,Q15233,Q00577,P21281,O43909,Q8IYB7,P61978,Q13045,P10644,P56377,P42345,P51812,P67870,Q03001 14 |
| Abnormality of the pancreas 0.2997078331109062 0.746524055313154 0.4553509058174054 1.0 0.7953369827621832 85 Q9UKG1,P03886,O15078,Q8IYB7,P14174,Q9UJW0,P53985,Q01844,P00403,P16930,P42771,P11802,O95155 13 |
| Abnormal vitamin b12 level 0.4715836564278618 0.7461224256192834 0.4555934635996552 1.0 0.7953369827621832 9 P41440 1 |
| Metaphyseal widening 0.3610908313604136 0.7448269757942567 0.4563763249619352 1.0 0.7959815008553978 28 Q7RTS9,O95831,A1X283 3 |
| Mixed demyelinating and axonal polyneuropathy 0.5114475472533987 0.7397577731866574 0.4594469855404921 1.0 0.7984232861022664 7 P03886,P00403 2 |
| Proximal muscle weakness 0.3073628668159081 0.73970129310439 0.4594812633025 1.0 0.7984232861022664 77 P11310,Q7Z406,Q9UHD2,Q92734,Q8NF91,P51114,P22626,Q9BUK6,Q8NI60,Q13586,P38935,P35637,Q16637,Q86U42,P36551,Q13126,Q9Y5P6 17 |
| Aplasia hypoplasia of the sternum 0.5694283288871064 0.7383010860257749 0.4603315066920554 1.0 0.7986217628218188 5 Q6KC79 1 |
| Multiple prenatal fractures 0.5109057108019508 0.737467289870668 0.4608382279426948 1.0 0.7990023774363716 7 Q32P28 1 |
| Eeg with frontal epileptiform discharges 0.5062432138979369 0.7332940834125907 0.4633790828754704 1.0 0.8022196839577924 2 Q8NB90 1 |
| Abnormal left ventricle morphology 0.3420908079475944 0.7327116732868292 0.4637343027327216 1.0 0.8023772549319427 33 O43683,P78536,Q8WTW3 3 |
| Joint contracture of the hand 0.3141431642308543 0.7306297034006918 0.465005363842998 1.0 0.8028474454943789 61 P42892,Q15392,A1X283,Q8IZA0,Q9NR77,P50542 6 |
| Abdominal obesity 0.5871392629899423 0.7293897075928818 0.4657633118645692 1.0 0.8031365902752757 4 O00170 1 |
| Soft tissue sarcoma 0.3272424351278636 0.7266239208055855 0.467456370410372 1.0 0.8031365902752757 39 O43683,Q13126,Q15392 3 |
| Abnormal circulating porphyrin concentration 0.5851744961101661 0.7221393233286849 0.4702088237146593 1.0 0.804422369556794 4 P22830 1 |
| Abnormality of the anterior fontanelle 0.3262303366402304 0.7182457287102217 0.4726057866764668 1.0 0.8065586408609396 39 A1X283,P51812,P50542,Q08J23 4 |
| Hemolytic anemia 0.3342060051048474 0.7179719152787505 0.4727746037077256 1.0 0.8065586408609396 35 Q9NP58,P41440,Q13586,P08237,P22830 5 |
| Multiple lipomas 0.5060671691073491 0.7170770843751553 0.4733265345171289 1.0 0.807206176672875 7 Q9BUK6 1 |
| Deep plantar creases 0.5637034339437492 0.7165440064854472 0.4736555048294555 1.0 0.8072683728513876 5 P61978,P21281,O00170 3 |
| Glioblastoma multiforme 0.4810140914712215 0.7164593318786814 0.473707770359943 1.0 0.8072683728513876 8 O75874 1 |
| Abnormality of the extraocular muscles 0.5776065969382482 0.7146042517506345 0.4748536167803094 1.0 0.8086325408662506 3 P43243 1 |
| Incomplete penetrance 0.3395655459932712 0.7134278224496006 0.4755810616983993 1.0 0.8089887802156207 33 P52732,O95140,P03886,Q06787,Q9UHD2,Q6UWE0,Q92733,Q9NWH9,P50995,O95453,P52701,P36551,Q9NTZ6,O14979,P42224 15 |
| Female reproductive system neoplasm 0.3671342055533233 0.7118269553260105 0.4765719386995881 1.0 0.809026497606766 24 O43683 1 |
| Prominent ear helix 0.5822796585910189 0.7114865501016505 0.4767827825306772 1.0 0.809026497606766 4 Q5T8D3,O75844 2 |
| Decreased activity of mitochondrial complex iv 0.3794492104569378 0.7074563372339462 0.4792829373104788 1.0 0.8114540836677412 18 Q70HW3,Q9Y584,P20674 3 |
| Thin clavicles 0.5753461889426277 0.706157843438569 0.4800899833634455 1.0 0.8122331618825923 3 O75844 1 |
| Clumsiness 0.3632137367439629 0.7032675987237295 0.4818889989833428 1.0 0.8132202458518899 25 O75503,O00165,Q9NR77 3 |
| Dry skin 0.337751315975999 0.6996275208079468 0.4841599509546748 1.0 0.8158765924148046 33 Q9NS87,P37268,Q08J23,P04066,P42771 5 |
| Overgrowth 0.5260978899762165 0.6968368967746167 0.4859048725281094 1.0 0.8162085684450959 6 Q9H9B1 1 |
| Abnormality of the musculature of the hand 0.3197056192854769 0.6967369875207007 0.485967406811395 1.0 0.8162085684450959 43 P31483,P18077,P62899,P46777,Q969E8,P42766,Q13586,Q14203,P61254,Q9NR77,P62913,P62847,P07196 13 |
| Expressive aphasia 0.5727052540976637 0.6963200758663194 0.486228403308258 1.0 0.8162085684450959 3 P49768 1 |
| Senile plaques 0.5727052540976637 0.6963200758663194 0.486228403308258 1.0 0.8162085684450959 3 P49768 1 |
| Alexia 0.5727052540976637 0.6963200758663194 0.486228403308258 1.0 0.8162085684450959 3 P49768 1 |
| Grammar specific speech disorder 0.5727052540976637 0.6963200758663194 0.486228403308258 1.0 0.8162085684450959 3 P49768 1 |
| Abnormality of acid base homeostasis 0.2635769939896067 0.6962469923171128 0.4862741631351308 1.0 0.8162085684450959 197 P11310,Q70HW3,P03886,Q9NPL8,Q8N183,Q7KZN9,O43676,P49419,P48735,P30084,O95831,Q9Y2Q9,P53985,O00217,Q8TB37,Q96CU9 16 |
| Abnormal response to acth stimulation test 0.4975570032573289 0.6955649745067385 0.4867013074119184 1.0 0.8166328278789013 2 P16435 1 |
| Abnormal activity of mitochondrial respiratory chain 0.3103325108415714 0.6932022940347081 0.4881826087425396 1.0 0.8187063718289052 61 Q70HW3,P03886,Q9NPL8,Q8N183,Q7KZN9,O43676,P30084,O00217,Q8TB37,Q96CU9 10 |
| Aplasia hypoplasia of the tongue 0.5245795581827948 0.6908120455722857 0.4896836647741605 1.0 0.8187063718289052 6 O15078 1 |
| Abnormality of the female genitalia 0.2728533446330797 0.6883188641706177 0.4912520049064961 1.0 0.8187063718289052 157 O75874,O15078,Q15392,P48735,Q16740,P49590,Q07812,Q08J23,Q01844,P51812,O43683,P50542 12 |
| Ventricular escape rhythm 0.5239165895566535 0.6881850313550643 0.4913362689000498 1.0 0.8187063718289052 6 P50402,Q13642,Q8WXH0,Q8NF91 4 |
| Cutaneous abscess 0.575694360562422 0.6873907645314661 0.4918365159077775 1.0 0.8187063718289052 4 P49768 1 |
| Abnormal ilium morphology 0.3582898228372442 0.686814185522989 0.492199829413368 1.0 0.8187063718289052 26 P50542,Q7RTS9,O95831 3 |
| Orchitis 0.5693727939180172 0.6839546526772102 0.494003801298134 1.0 0.8200708264725848 3 P01889,Q9NZ08 2 |
| Pleuritis 0.5693727939180172 0.6839546526772102 0.494003801298134 1.0 0.8200708264725848 3 P01889,Q9NZ08 2 |
| Abnormal liver morphology 0.2772651849069327 0.683246565923097 0.4944510524777867 1.0 0.8203893390719587 278 P11310,P03886,Q96MW5,Q9NPL8,O43772,Q9H0U3,Q8IYB7,P14174,O00217,Q14790,Q16625,P07686,P00374,Q96CU9,P50542,Q8N183,Q7KZN9,Q8WTW3,Q93100,P28070,P22626,P08236,Q9UER7,Q01844,P22830,O95155,Q8N511,P23786,O15078,O43676,Q9UJW0,Q9Y2Q9,P20674,P04066,Q8TB37,P16930 36 |
| Skull asymmetry 0.4942996742671008 0.6815448810441652 0.4955267781595811 1.0 0.8207943692840753 2 Q96DX4 1 |
| Abnormal pupil morphology 0.4024714040718334 0.6788112232660368 0.4972574816134485 1.0 0.8216855280154479 14 Q9NR77 1 |
| Hyperplasia of the maxilla 0.4929424538545058 0.6757249451872749 0.4992152950623572 1.0 0.8236245084922647 2 Q96CW1 1 |
| Unilateral ptosis 0.5669291338582834 0.6749225069937909 0.4997250002014222 1.0 0.8237283266256051 3 Q9UHX1,Q14683 2 |
| Long palm 0.5669291338582754 0.6749225069937625 0.4997250002014402 1.0 0.8237283266256051 3 Q9BZI7,P16435 2 |
| Elevated urinary delta aminolevulinic acid 0.5720065649783588 0.6739844594159662 0.5003211938614467 1.0 0.8238411219596184 4 P16930 1 |
| Central scotoma 0.4169844113741127 0.6724469634071154 0.501299193499809 1.0 0.8240028512318728 12 Q9Y287,P03886 2 |
| Bifid tongue 0.5504147865874951 0.6666141248822475 0.5050186444182363 1.0 0.8250190801264182 5 Q9UBM7,P61978 2 |
| Congenital localized absence of skin 0.4907709011943538 0.6664403943453244 0.5051296504803229 1.0 0.8250190801264182 2 Q15149 1 |
| Aplasia cutis congenita over the scalp vertex 0.4907709011943538 0.6664403943453244 0.5051296504803229 1.0 0.8250190801264182 2 Q15149 1 |
| Widened cerebral subarachnoid space 0.5491919568302437 0.6620628442228691 0.5079309469347866 1.0 0.8277230384332818 5 P03886 1 |
| Abnormality of the lymphatic system 0.2666892002547628 0.6615513601916517 0.5082587885746006 1.0 0.8277230384332818 168 Q9H0U3,Q8IYB7,P48735,P14174,Q14790,Q16625,O75874,P07686,Q15392,Q13586,P42771,P50542,Q8WTW3,P28070,Q9Y244,P08236,Q9UER7,Q01844,O95155,O15078,P04066,P16930 22 |
| Vomiting 0.2798020415250759 0.6614329317572325 0.5083347124779241 1.0 0.8277230384332818 103 P11310,P03886,Q9Y6B6,Q9NPL8,Q8N183,Q9Y584,O43676,P61978,Q9UBM7,O00217,O96000,Q8TB37,P00403,Q96CU9,P23786 15 |
| Protruding ear 0.3115644010754178 0.6604241437055292 0.508981682718868 1.0 0.8282935687171047 46 Q06787,Q8N201,A1X283,Q08J23,P56377,P51812 6 |
| Abnormality of corneal thickness 0.3820577418298887 0.659918300859191 0.5093062593503215 1.0 0.8282935687171047 16 O43395,Q15555,O15078 3 |
| Abnormal intestine morphology 0.2685582627562556 0.6587132840505382 0.5100799009764132 1.0 0.8282935687171047 223 Q96MW5,P03886,P18077,Q8IYB7,P14174,P42766,Q08J23,O43683,Q14566,Q9Y6B6,Q93063,P42892,Q15392,P31150,Q07812,P42771,P78536,P50542,P61978,P08183,Q01844,P00403,P51812,O95155,P62847,Q6KC79,O15078,Q9BX63,Q969E8,Q9UDY2,Q9UJW0,Q9UBM7,Q9Y2W2,P16930,P36551 35 |
| Polyneuropathy 0.3539937892195813 0.6578399764272741 0.510640963549079 1.0 0.8285790981066834 26 P03886,P04066,O95831,P49247 4 |
| Fatigue 0.2863876870558834 0.6572656199010594 0.5110101386750847 1.0 0.8285790981066834 91 Q92804,P11310,Q15165,Q70HW3 4 |
| Irritability 0.2966664452667452 0.6506469394507316 0.5152744223696166 1.0 0.832366374597073 80 O43772,Q9H9B1,P61457,P49419,P37268,O95831,P49768 7 |
| Abnormal protein glycosylation 0.3619335344049283 0.64813207967419 0.5168995269559655 1.0 0.8332669482735926 22 Q8WTW3,Q9H0U3 2 |
| Abnormal circulating dicarboxylic acid concentration 0.3114581916554544 0.6475414990213116 0.5172815452877657 1.0 0.8334802927694797 45 P41440,P48735 2 |
| Generalized amyotrophy 0.3375266083941196 0.6448283993707885 0.5190383958243405 1.0 0.8349794936289624 31 P22626,P35637,Q9Y5P6 3 |
| Ependymoma 0.5444609086745188 0.644527777214289 0.5192332512562094 1.0 0.8349794936289624 5 O75874 1 |
| Heinz bodies 0.4853420195439736 0.6433814098709907 0.5199766430699124 1.0 0.835105016109724 2 P11413 1 |
| Aplasia hypoplasia of the thumb 0.303316498749723 0.6413324875461038 0.5213066860792799 1.0 0.8351964457438481 51 Q6KC79,P18077,P21281,P62899,P46777,Q9BX63,Q969E8,P42766,Q08J23,Q9UBM7,P61254,Q15427,P62847 13 |
| Abnormal subarachnoid space morphology 0.3242737569747185 0.6406147759176822 0.5217729971257108 1.0 0.835435581593455 35 P03886,P49419,P31150,O95831,P51812 5 |
| Emg myopathic abnormalities 0.3242658190736941 0.6405536170314348 0.5218127431477377 1.0 0.835435581593455 35 P31483,Q9Y6B6,Q7Z406,P46976,Q8NF91,P51114,P22626,Q9BUK6,Q13586,Q13642,P07196 11 |
| Intellectual disability moderate 0.2894561145476167 0.640275942141787 0.521993218473336 1.0 0.8354389070781383 86 Q06787,P15311,Q93063,Q8WTW3,P31150,P61978,Q4J6C6,Q8NI60,Q08J23,Q9H269,P56377,P51812,P38159,P67870,O60524 15 |
| Hypohidrosis 0.4166657291238106 0.6349388488094481 0.5254682985855099 1.0 0.837738285229754 11 P07686 1 |
| Abnormality of the calf musculature 0.3673500397327908 0.6344584246958291 0.5257816911942981 1.0 0.837738285229754 18 Q9NR77 1 |
| Abnormal circulating long chain fatty acid concentration 0.4316313688167148 0.6332646610707925 0.5265608264743789 1.0 0.837738285229754 10 P50542 1 |
| Hypermethioninemia 0.5406791149664045 0.630597926790054 0.5283034547855854 1.0 0.8389994459672068 5 P16930 1 |
| Hepatic failure 0.3038183105133633 0.6305442876141777 0.5283385364418733 1.0 0.8389994459672068 58 P50542,Q9UER7,O43772 3 |
| Infectious encephalitis 0.4461336595569686 0.630068804478254 0.5286495687794295 1.0 0.8392087900318875 9 Q9UHD2,Q9H9P8,P01889,Q9BUB7,P42224 5 |
| Bilateral sensorineural hearing impairment 0.3353682924568433 0.6292666281371743 0.5291745152911944 1.0 0.8396669302814338 31 P03886,Q7Z406,Q9UHD2,Q9NSE4,O43681,P00403,P38159,P35637 8 |
| Abnormality of the small intestine 0.3036221327603349 0.6288059992285226 0.5294760719882712 1.0 0.8396669302814338 62 Q96MW5,Q8IYB7,Q9BXW9,Q9BZI7,O43683,Q9Y5S9,Q14566,Q9Y6B6,P31150,P78536,P98175,Q93074,Q9BT22,P51812,O96028,Q9BX63,P49454,Q9UDY2,P51608,Q9Y2W2,P36551,P50851 22 |
| Somatic mutation 0.3018093533723856 0.6276213935268307 0.5302519906092509 1.0 0.8402952818946338 51 O75874,Q8N9N2,Q92733,Q07812,O75330,P30154,Q01844,Q92804,O43683,Q14790 10 |
| Hyporeflexia of lower limbs 0.3926700901886948 0.6262905671008749 0.5311243723490249 1.0 0.840684634944789 14 Q9NR77,Q13586 2 |
| Abnormal erythrocyte morphology 0.2656161412783647 0.6261829865406948 0.531194925219225 1.0 0.840684634944789 218 P03886,P48735,P42766,Q08J23,O00217,O75874,Q93063,P00374,P41440,Q9NP58,Q96CU9,Q9UKG1,Q8N183,Q7KZN9,Q8WTW3,P28070,P30084,Q9UER7,Q01844,P22830,Q969E8 21 |
| Progressive neurologic deterioration 0.355105104147482 0.6182003389908279 0.536443286637561 1.0 0.8446244195315624 23 Q9Y287,Q9NPL8,P07686 3 |
| Increased circulating lactate dehydrogenase concentration 0.3977411503755018 0.6125563417554536 0.5401697332022457 1.0 0.8482947218598648 13 P41440,Q03426,P62263,P23786 4 |
| Moderate sensorineural hearing impairment 0.4263885860140214 0.6089176245997463 0.5425790414204841 1.0 0.8491612070569748 10 P31150 1 |
| X linked dominant inheritance 0.3513171578241155 0.6084373774454113 0.5428974277020249 1.0 0.8491612070569748 24 P31150,P55795,P51812 3 |
| Hyperthyroidism 0.4110525399675561 0.6077456298427723 0.5433561945614125 1.0 0.8493114349569741 11 Q9BUK6 1 |
| Neoplasm of the gastrointestinal tract 0.2740646264191232 0.6063891149064917 0.5442563949068318 1.0 0.849642569742729 105 P18077,P62899,Q8IYB7,P42766,O43681,Q96GM5,O43683,Q14790,Q8N9N2,P42892,Q07812,P42771,Q9UKG1,Q9UER7,P61254,P11802,P62847,Q9BX63,Q969E8,Q9UDY2,P16930,P36551 22 |
| Abnormal femoral neck head morphology 0.2995261354261876 0.6003023373849766 0.5483047612676306 1.0 0.8523614524419934 53 Q96MW5,Q93063,Q8WTW3,O95831,P04066,P51812,Q7RTS9,P50542 8 |
| Oligodactyly 0.5321855140262605 0.5996107197851125 0.5487657012839227 1.0 0.8523614524419934 5 Q6KC79,Q15427 2 |
| Rectal prolapse 0.4090061345678792 0.5979019598366669 0.5499053521106883 1.0 0.8538483965299579 11 Q08J23 1 |
| Unsteady gait 0.2994455182014221 0.596792319689086 0.5506460463162322 1.0 0.8542008674189316 54 O95831,Q9NR77 2 |
| Fair hair 0.5502933105792271 0.5964689764595126 0.5508619730098598 1.0 0.8542008674189316 4 Q05086,P10644 2 |
| Horizontal nystagmus 0.3469744309747374 0.5959978930946229 0.551176634227623 1.0 0.8544058848354711 25 O95831 1 |
| Septo optic dysplasia 0.4736699239956568 0.5945968743743602 0.5521129698801592 1.0 0.8545483980436391 2 Q8N3U4 1 |
| Glossitis 0.544664675536262 0.5941420845258072 0.5524170850700267 1.0 0.8545483980436391 3 Q9Y4U1,P01889 2 |
| Psychotic mentation 0.4527507474578993 0.5938806418335142 0.5525919474046896 1.0 0.8545483980436391 8 P03886,P00403 2 |
| Abnormal pancreas size 0.4527261525323165 0.5937764362569151 0.5526616514340597 1.0 0.8545483980436391 8 Q9UKG1,Q9Y3E5,Q5F1R6 3 |
| Abnormal morphology of the olfactory bulb 0.5433070866141899 0.5893123024832867 0.5556517935866261 1.0 0.8555146125151407 3 Q8N3U4,Q14683 2 |
| Single naris 0.5433070866141899 0.5893123024832867 0.5556517935866261 1.0 0.8555146125151407 3 Q8N3U4,Q14683 2 |
| Abnormality of muscle size 0.2658624254688186 0.5883814029184737 0.5562763175546879 1.0 0.8555146125151407 228 P11310,Q9NPL8,O75298,Q9BUK6,O95831,Q9NR77,O14979,O00400,Q9Y5P6,Q8N9N2,P07686,Q13586,Q16637,Q15165,Q9H0B6,Q13126,P50542,P61978,P22626,P51812,Q92804,Q9UHD2,O15078,Q9H9B1,Q92734,Q6DKK2,P56377,O60524,P04066,P35637 30 |
| Periventricular white matter hyperintensities 0.4069474940430839 0.5880389779657216 0.5565061304657468 1.0 0.8555870679484873 11 O75503 1 |
| Abnormal autonomic nervous system physiology 0.3110961309634918 0.5862617052950249 0.5576996610367821 1.0 0.8559123205713596 37 O43681,P07686,P42892,P41440 4 |
| Abnormal circulating glutamine family amino acid concentration 0.4974279293101713 0.5852753036845784 0.5583626178401673 1.0 0.8559123205713596 6 P20674 1 |
| Undetectable electroretinogram 0.5267628153242853 0.5800557128139913 0.5618770479171737 1.0 0.8582228344008423 5 P51659,O43924 2 |
| Elevated circulating long chain fatty acid concentration 0.5261303708499244 0.577787180109154 0.5634078115559003 1.0 0.8583519272375635 5 P50542 1 |
| Phenotypic variability 0.2669385854134722 0.5770871062661234 0.5638806139955586 1.0 0.8583519272375635 112 P03886,P46976,Q5F1R6,O00217,Q9NR77,Q9UEY8,Q9NTZ6,O14979,Q9Y5P6,Q70HW3,Q06787,P35270,P00374,Q13586,O15121,P08237,P50995,Q13868,Q13813,Q8TD16,Q9BVA1,Q8NI60,Q9Y2R9,Q9NWH9,P00403,P49959,P07196,P52732,Q9UHD2,Q92733,P36551,Q8TB37,Q15427,P43243 34 |
| Cleft hard palate 0.4693268186753528 0.5767425989209071 0.5641133509074483 1.0 0.8583519272375635 2 P38919 1 |
| Long palpebral fissure 0.3416192011649971 0.5757771758865466 0.5647658027130722 1.0 0.8583519272375635 26 Q96T58,Q93074,Q13555,P31150,P61978,P51608,Q9BZI7,P51812,O00459,Q02750 10 |
| Abnormal tendon morphology 0.2692833753832538 0.5737577175688696 0.5661317648472499 1.0 0.8588526334984774 252 P11310,O95831,Q08J23,Q9NR77,Q9Y5P6,Q8N9N2,P42892,Q15392,P41440,Q9Y3C8,A1X283,O15121,Q13586,Q9H0B6,Q7RTS9,P50542,Q53FT3,Q8WTW3,P28070,P34913,P08236,P37268,Q8IZA0,Q15043,O95155,P23786,Q92734,Q9NS87,P56377,P35637 30 |
| Abnormality of female external genitalia 0.3058186667496428 0.5720487909402149 0.5672889204961047 1.0 0.8592931541772693 42 Q15392,P50542,Q08J23 3 |
| Bulbar signs 0.3664945298171451 0.5719477960480892 0.5673573420277849 1.0 0.8592931541772693 16 O43681,P03886,Q15043,P35637 4 |
| Bulbar palsy 0.3744745963803462 0.5713481486013606 0.5677636696676385 1.0 0.8593866167545373 15 P31483,Q9UHD2,O43681,P43243,P35637 5 |
| Furrowed tongue 0.4326326359827509 0.5703981884833441 0.568407657954223 1.0 0.8594369370366998 9 O15078 1 |
| Antiphospholipid antibody positivity 0.5375994451948347 0.5691384991328783 0.5692621532883597 1.0 0.859650501701265 3 P42224 1 |
| Peripheral demyelination 0.3529736493295993 0.5679391069402303 0.570076316313751 1.0 0.859650501701265 20 O43681,P03886,Q9NR77 3 |
| Very long chain fatty acid accumulation 0.4021996818979832 0.5654494115533573 0.5717681240923411 1.0 0.85999604046548 11 P51659,P50542 2 |
| Constitutional symptom 0.2705905751978495 0.5605966273450077 0.5750725512118766 1.0 0.8626506380934685 271 P11310,O75298,P48735,Q9BUK6,P14174,Q15800,O43681,Q9NR77,O75874,Q70HW3,Q06787,P07686,P42892,Q93063,P31150,Q15165,P28070,P22626,Q9UER7,Q15043,Q01844,P51812,Q92804,Q9UHD2,P35637 25 |
| Abnormal number of granulocyte precursors 0.5346514455236362 0.5588046354962923 0.5762950585230968 1.0 0.8627012824475642 3 Q01130 1 |
| Acanthosis nigricans 0.379756670880175 0.5585451303172099 0.5764721960631678 1.0 0.8627012824475642 14 P28070,Q92925,P02545,O00170 4 |
| Hyperorality 0.4903466689072893 0.5585314785300337 0.576481515447524 1.0 0.8627012824475642 6 Q9UQN3,P49768,Q14203 3 |
| Severe muscular hypotonia 0.3161066618058818 0.5578044816354637 0.5769779020636809 1.0 0.8627012824475642 34 P50542,Q8N9N2,O95831 3 |
| Hamartoma of tongue 0.5341737868482825 0.5571359176933862 0.5774345689288398 1.0 0.8627012824475642 3 O43924 1 |
| Dialeptic seizure 0.2959029221624645 0.5567000806775374 0.5777323617964183 1.0 0.862729799200455 64 Q9UHD2,Q9H9B1,P00374,P49419,P31150,P61978,Q8TB37,P51812,P67870 9 |
| Secundum atrial septal defect 0.5337781789811582 0.5557550551859396 0.578378314295573 1.0 0.8634190774135059 3 A1X283 1 |
| Spinal cord lesion 0.414197363378565 0.553236472273127 0.5801014954577695 1.0 0.8648886670578588 10 O75298,O00400 2 |
| Proximal femoral metaphyseal irregularity 0.532889128963723 0.5526558546574344 0.5804990874361124 1.0 0.8648993923433344 3 Q5F1R6 1 |
| Onychomycosis 0.4633550488599348 0.5524776375590007 0.5806211515100681 1.0 0.8648993923433344 2 Q9Y5L0 1 |
| Cerebellar cortical atrophy 0.5321659364927327 0.5501389491180461 0.5822240737261606 1.0 0.8648993923433344 3 O75845 1 |
| Deep venous thrombosis 0.4625407166123778 0.5491952791822402 0.5828714437991767 1.0 0.8648993923433344 2 Q9Y4U1 1 |
| Eeg with generalized slow activity 0.3913839742255202 0.5454667278001761 0.5854325580467092 1.0 0.8663003692529736 12 P49419,O75503 2 |
| Facial hypertrichosis 0.2947365455247185 0.5448849448266727 0.5858326513473942 1.0 0.8663003692529736 59 Q03164 1 |
| Decreased proportion of cd3 positive t cells 0.4614549402823016 0.5448289516638827 0.5858711646494854 1.0 0.8663003692529736 2 O95394 1 |
| Recurrent bacterial infections 0.3448685189775106 0.5416225963988786 0.5880785221195781 1.0 0.8666607736494976 22 P78536,P49768,O00165 3 |
| Collectionism 0.5343680228008545 0.5413760165678329 0.5882484346360073 1.0 0.8666607736494976 4 P49768 1 |
| Eeg with continuous slow activity 0.5343680228008545 0.5413760165678329 0.5882484346360073 1.0 0.8666607736494976 4 P49768 1 |
| Lack of insight 0.5343680228008545 0.5413760165678329 0.5882484346360073 1.0 0.8666607736494976 4 P49768 1 |
| Prenatal movement abnormality 0.2941566620148301 0.5400446715860094 0.5891662256689605 1.0 0.8666607736494976 64 Q6KC79,Q70HW3,Q8N9N2,Q7KZN9,Q8NF91,P51114,P49419,Q13045,P38935,Q16637,Q9UBM7,Q4J6C6,O15111,Q9Y5P6 14 |
| Anhidrosis 0.4853740174787999 0.5399712992351446 0.5892168256655292 1.0 0.8666607736494976 6 P04066,P20700,O15270 3 |
| Abnormal natural killer cell morphology 0.5338666329338071 0.5396685421265301 0.5894256381683387 1.0 0.8666607736494976 4 Q7L590,P33991 2 |
| Reduced natural killer cell count 0.5338666329338071 0.5396685421265301 0.5894256381683387 1.0 0.8666607736494976 4 Q7L590,P33991 2 |
| Restrictive behavior 0.4621472904919994 0.5384504570178839 0.5902660998425588 1.0 0.8666607736494976 7 P49768,P51608,Q9UQN3 3 |
| Underdeveloped nasal alae 0.3354980075514365 0.5360670291978455 0.5919122259478207 1.0 0.8667367693800199 26 P55795,Q93063,Q08J23 3 |
| Aplasia hypoplasia of the spleen 0.4386740586869256 0.5350651073036388 0.5926048368962091 1.0 0.8667367693800199 8 O15078 1 |
| Shortening of all distal phalanges of the fingers 0.3892222992313385 0.5350487986524346 0.5926161138526616 1.0 0.8667367693800199 12 P31150 1 |
| Mutism 0.3474068862487943 0.5347595803210881 0.5928161162340815 1.0 0.8667367693800199 20 P35637,P22626,Q9UHD2,Q9H9B1 4 |
| Abnormal duodenum morphology 0.348461809461504 0.5317984944735006 0.5948655656132016 1.0 0.8677898440537493 19 O43683,P78536,Q9Y2W2,Q9BX63 4 |
| Decreased number of peripheral myelinated nerve fibers 0.3456867954234186 0.5246015689726243 0.5998601958146605 1.0 0.8721345225085549 20 Q9H0B6,Q9NR77 2 |
| Abnormality of the cerebrospinal fluid 0.2595378933149589 0.5226186978771715 0.6012396261109334 1.0 0.8726009268037301 165 P49247,P03886,Q9NPL8,Q8N183,O15078,Q15392,Q7KZN9,O43676,Q9UHD2,P30084,O95831,Q08J23,P56377,O00217,Q8TB37,Q9NR77,Q96CU9,Q9Y5P6 18 |
| Abnormality of the leydig cells 0.4557546145494027 0.5221007599488828 0.6016001773938413 1.0 0.8726009268037301 2 P52788 1 |
| Spina bifida 0.3012898450104493 0.5180984835765688 0.6043895582183882 1.0 0.8740667075492909 39 O15078,Q08J23 2 |
| Decreased size of nerve terminals 0.4546688382193265 0.517809664457455 0.6045910746733032 1.0 0.8740667075492909 2 P11047 1 |
| Aplasia hypoplasia of the ovary 0.3643637186411136 0.5176269497896318 0.6047185749159087 1.0 0.8740667075492909 15 O15078 1 |
| Rheumatoid factor positive 0.5213009087794388 0.5127867176455121 0.6081005218943891 1.0 0.8749055618399918 3 O95394 1 |
| Posterior pharyngeal cleft 0.5210293909950239 0.5118647237059899 0.6087456884115052 1.0 0.8752705123828919 3 O15344 1 |
| Exaggerated startle response 0.404263865014328 0.5089490327826165 0.6107879495799249 1.0 0.8769142180631309 10 Q9H0B6,P07686,P08243 3 |
| Increased muscle lipid content 0.404194161340188 0.5086420104029253 0.6110031764854174 1.0 0.8769142180631309 10 Q9BUK6,P23786 2 |
| Atrophy degeneration involving the corticospinal tracts 0.3467053620794058 0.5073870305395092 0.6118832839584956 1.0 0.8769142180631309 17 P35637,Q9UHD2,O00400 3 |
| Abnormal t wave 0.5196561710931079 0.5072105152668797 0.6120071177192423 1.0 0.8769142180631309 3 P46976 1 |
| Focal myoclonic seizure 0.4038287761119019 0.5070334931700408 0.612131318176173 1.0 0.8769142180631309 10 O75503 1 |
| Mania 0.3453230134972376 0.5060129567169308 0.612847553966491 1.0 0.8769142180631309 18 P03886,P00403,P51812 3 |
| Blepharophimosis 0.2901416036493844 0.5058807837139767 0.6129403430707574 1.0 0.8769142180631309 57 Q03164,Q08J23 2 |
| Immunologic hypersensitivity 0.3114234930200324 0.5057284032929402 0.6130473260412308 1.0 0.8769142180631309 33 Q08J23 1 |
| Weight loss 0.2797431193502018 0.5056929645760969 0.6130722079732416 1.0 0.8769142180631309 84 Q9UER7,P11310,Q01844,P42892 4 |
| Abnormal tongue physiology 0.3418853409803793 0.5023192751047445 0.615442952739846 1.0 0.8788618676478179 20 P51114,O95831 2 |
| Limited elbow movement 0.2967907923187712 0.4997440179395356 0.6172553338008835 1.0 0.8791209912642628 42 Q93074,Q6KC79,O94905,Q9H6K4,Q8NF91,O43909,Q15910,P37268,Q13642,Q15427,Q7RTS9,P23786,Q96AY3 13 |
| Nasogastric tube feeding 0.3271492816548079 0.4970444948642712 0.6191576745865455 1.0 0.8797731152248774 27 Q08J23 1 |
| Advanced eruption of teeth 0.3811219811179298 0.4965020870538331 0.6195402152369223 1.0 0.8797731152248774 12 P51812,Q9H9B1 2 |
| Proximal femoral metaphyseal abnormality 0.5209022874634437 0.4961418288339599 0.6197943493042939 1.0 0.8797731152248774 4 Q5F1R6 1 |
| Sprengel anomaly 0.3100363133549856 0.4959135151266527 0.6199554303314319 1.0 0.8797731152248774 33 P18077,P62899,Q8NF91,P46777,Q969E8,Q15427,P42766,Q9Y2W2,P61254,Q13642,P62913,P62847 12 |
| Abnormal glial cell morphology 0.2891530439748912 0.4954095921637845 0.620311025122922 1.0 0.8800110665406373 66 O75874,Q9UHD2,Q7KZN9,Q9H9B1,P48735,O95831,P35637 7 |
| Neuronal loss in the cerebral cortex 0.473131188170909 0.4951117358466705 0.6205212501038095 1.0 0.880042705704464 6 P35637 1 |
| Type ii transferrin isoform profile 0.5014627654623801 0.4914828817236514 0.6230849565568486 1.0 0.8807622309367598 5 Q8WTW3 1 |
| Self injurious behavior 0.2857720387177294 0.4901650158681616 0.6240171342450691 1.0 0.8807622309367598 50 Q6KC79,Q06787,P55795,O95155,Q9H9B1,Q9NS87,Q13045,P56377,P09471,P51812,P67870 11 |
| Elevated hepatic transaminase 0.2612647393878418 0.490044022043018 0.6241027480839769 1.0 0.8807622309367598 115 P11310,Q96MW5,Q9Y6B6,O43772,P28070,Q9Y2Q9,Q9UER7,P20674,P16930,P23786,Q8N511,Q16625 12 |
| Perseveration 0.3992888708348402 0.487174390753278 0.6261347520041036 1.0 0.8815506841994506 10 P35637,Q9UHD2 2 |
| Aplasia hypoplasia of fingers 0.2673370071525525 0.4853506771694718 0.6274276132321615 1.0 0.882090517191898 101 P18077,P62899,Q03164,P46777,O95831,Q08J23,P42766,Q96GM5,P21281,P31150,P38435,P62913,P61254,P51812,P62847,Q6KC79,Q9NS87,Q9BX63,Q969E8,Q9UBM7,P09471,Q15427 22 |
| Cupped ear 0.3422734789581655 0.4827235417218988 0.6292920453917443 1.0 0.8822650450358608 17 P42892,Q15392 2 |
| Onycholysis 0.4988600902898532 0.4826453921208487 0.6293475430847146 1.0 0.8822650450358608 5 O15446 1 |
| Abnormal neural tube morphology 0.2892231218450658 0.4720909553800078 0.6368618680378957 1.0 0.8858909886402027 46 Q99707,O75845,P21281,O15078,Q9BX63,Q9BXW9,Q08J23,Q9Y2W2,Q9Y5S9,Q9Y5P6 10 |
| Failure to thrive in infancy 0.2957385895450078 0.4719800134537539 0.6369410546127616 1.0 0.8858909886402027 38 Q96MW5,P42892,Q8WTW3,Q9NS87,P37268,P20674 6 |
| Neoplasm 0.2642050130693751 0.4714631887789344 0.6373100011326351 1.0 0.8861409546627464 255 P18077,Q9H0U3,P62899,Q8IYB7,P48735,Q9BUK6,P42766,Q08J23,O43681,O75330,O00165,O43683,Q14790,O75874,Q8N9N2,Q93063,P42892,Q15392,Q07812,Q13586,P30154,P42771,Q13126,Q9UKG1,Q9UER7,Q01844,P11802,Q92804,O95155,P62847,O43924,Q92733,Q9BX63,Q969E8,Q9UDY2,Q9H269,Q9UBM7,P36551,P16930,P17812,Q15555 41 |
| Dysmetric saccades 0.4445297319705219 0.4709915256235386 0.6376467865911644 1.0 0.8863460675590451 7 Q9NW15,P49959 2 |
| Dyslexia 0.3952276396395396 0.4696145718862419 0.6386304118681232 1.0 0.8874499165514602 10 P49768,Q9H6K4,Q13586 3 |
| Peripheral neuropathy 0.2484529445481724 0.4672900185235994 0.6402923967726397 1.0 0.8877955357568577 190 Q96MW5,P03886,Q9NPL8,O95831,O43681,O00217,Q9NR77,Q06787,Q8N9N2,P41440,P51659,Q13045,P38935,O15121,Q96CU9,Q8IV08,Q9H0B6,P50542,Q03001,Q15067,Q8N183,Q7KZN9,Q9NSE4,Q96KR1,P22626,P30084,P00403,P49247,Q6KC79,Q7Z406,Q92734,Q8NF91,P04066,P16930,P36551,O60524 36 |
| Abnormal hdl cholesterol concentration 0.5071553967422979 0.4655467303025136 0.6415399804349211 1.0 0.88846347583097 3 Q10471 1 |
| Gingival fibromatosis 0.5069701542217087 0.4649392355431808 0.6419749720117511 1.0 0.8886434271361339 3 Q15392 1 |
| Vertebral clefting 0.407014775890973 0.4618716275007102 0.6441733815486215 1.0 0.8896089489213195 9 Q9Y2W2,Q8WTW3 2 |
| Eczema 0.2926223970985315 0.4613296131087975 0.6445621421081198 1.0 0.889852494958746 41 Q08J23 1 |
| Abnormality of cardiovascular system electrophysiology 0.2614460699416324 0.4600132915729871 0.6455066800968661 1.0 0.8906622813475615 133 P50542,P11310,P42892,O43772 4 |
| Sensory axonal neuropathy 0.3343909290353448 0.459111262084166 0.6461542696498037 1.0 0.8909929383336532 20 Q8IV08,P22626,O95831 3 |
| Aplasia hypoplasia involving the nose 0.3107843764558416 0.4582413360102157 0.6467790654548138 1.0 0.8909929383336532 31 P55795,Q93063,Q08J23 3 |
| Skin rash 0.3291781866648847 0.4580898506496286 0.64688789031271 1.0 0.8909929383336532 23 P14174 1 |
| Abnormal form of the vertebral bodies 0.2690777391571509 0.4561731529010193 0.6482654694412595 1.0 0.891317437872407 92 O75874,Q8WTW3,Q32P28,P48735,P08236,Q13045,O95831,A1X283,Q9Y2Q9,Q9UBM7,P04066,P51812,Q7RTS9,Q96AY3 14 |
| Abnormality of ocular smooth pursuit 0.3263973001068991 0.4530426553329739 0.650518026653262 1.0 0.8928317606879623 24 Q06787,Q8NF91,P49959,P41440 4 |
| Abnormality of the thyroid gland 0.2595837073028824 0.4506887284488625 0.6522139072125608 1.0 0.8941211146008261 121 O75874,Q06787,P03886,O95155,P42892,Q93063,P61978,P48735,Q9BUK6,Q13045,P04066,P42771,O43683 13 |
| Somatic sensory dysfunction 0.2592863270477911 0.4467047254644607 0.6550882694856446 1.0 0.895560315101792 121 Q06787,Q9Y6B6,Q9H6K4,P07686,Q93063,Q92734,O75298,P41440,P61978,Q9BUK6,Q13045,O95831,P17480,O00165,Q9NR77,Q8IV08,Q9H0B6,O00400 18 |
| Decreased light and dark adapted electroretinogram amplitude 0.5010543345228059 0.4456978029012655 0.6558155518659445 1.0 0.8956112291097154 3 Q15067 1 |
| Neoplasm of the nervous system 0.2831569070992222 0.444203811520201 0.6568952368098904 1.0 0.8956112291097154 57 O75874,Q9UER7,P48735 3 |
| Abnormality of the pubic bone 0.4014188353376959 0.4391278756097012 0.6605688817773161 1.0 0.8956120652470096 9 Q7RTS9 1 |
| Morphological abnormality of the corticospinal tract 0.3320822723714723 0.4385861600338995 0.6609614270960282 1.0 0.8956256837646701 19 O75298,P35637,Q9UHD2,O00400 4 |
| Aplasia hypoplasia of the phalanges of the hand 0.2831637385544103 0.4377730248252958 0.6615508272617361 1.0 0.8958698507637636 62 Q03164,P31150,Q7RTS9,A1X283 4 |
| Corpus callosum atrophy 0.341384559867573 0.436704448321507 0.662325702802528 1.0 0.8960738481825511 16 Q9H1B7,O75503 2 |
| Hyperhidrosis 0.2967244692460796 0.4366757812428855 0.6623464956466965 1.0 0.8960738481825511 35 P07686,P61978,P38935,P04066,Q9H0B6,Q03001 6 |
| Abnormal exteroceptive sensation 0.2824531566139447 0.4343401567753411 0.6640414472044365 1.0 0.8969054317152229 59 O95831,Q9NR77 2 |
| Abnormal large intestine morphology 0.27309164865787 0.4336729816498943 0.6645259292386649 1.0 0.8970345374173092 84 Q6KC79,P18077,P08183,Q969E8,Q07812,P42766,Q08J23,P62847,P51812,P42771,O43683 11 |
| Increased susceptibility to fractures 0.2826828587090896 0.4334569119750694 0.6646828624467356 1.0 0.8970345374173092 64 O75874,Q32P28,P48735,P22626,Q13126 5 |
| Retinal thinning 0.4318675352877306 0.4307771228112562 0.6666304354172148 1.0 0.8987499780901768 2 P51648 1 |
| Basal ganglia calcification 0.3726578947941042 0.4306517093534243 0.6667216365332638 1.0 0.8987499780901768 11 P03886,P00403 2 |
| Low set posteriorly rotated ears 0.2686719358120235 0.4294663042897693 0.6675839104991224 1.0 0.8991358794556773 88 O95155,O15078,Q15392,Q8WTW3,P37268,Q08J23,O43683,P50542 8 |
| Progressive psychomotor deterioration 0.3851163194889189 0.4267963436941803 0.6695276698420334 1.0 0.9000679209473815 10 P07686 1 |
| Hand tremor 0.3596571155655633 0.4258273616997501 0.6702336476105097 1.0 0.9006324739627022 13 Q92734,Q9NP58,Q96KR1,Q16637,P07196 5 |
| Abnormal circulating monocarboxylic acid cocentration 0.4105470250874653 0.4233196988986397 0.6720620238198787 1.0 0.902162639774678 8 Q9UDY2,Q9H3U1,Q5F1R6 3 |
| Subependymal cysts 0.4294245385450594 0.4218281446851 0.6731504609961656 1.0 0.902162639774678 2 Q9BSJ2 1 |
| Unusual infection by anatomical site 0.3523231419907014 0.4216107158835828 0.6733091833469613 1.0 0.902162639774678 14 Q9UHD2,O95394,Q9H9P8,P01889,Q03426,Q9Y4L1,Q9BUB7,P42224 8 |
| Developmental cataract 0.2811936771516529 0.4200250258036164 0.6744671718087532 1.0 0.9022902271377852 64 P03886,P18077,Q9NSE4,P62899,Q9H9B1,P46777,Q969E8,Q15800,P42766,P61254,P00403,P62847,O00400,P50542 14 |
| Erectile dysfunction 0.3954594899281219 0.415336311692625 0.6778957226914841 1.0 0.9034880103279102 9 P07686 1 |
| Impotence 0.3954594899281219 0.415336311692625 0.6778957226914841 1.0 0.9034880103279102 9 P07686 1 |
| Bilateral talipes equinovarus 0.4493556395920927 0.4118381056667584 0.6804580893518744 1.0 0.9048680183028244 6 Q15392 1 |
| Scaphocephaly 0.4488238717260117 0.4100397742612835 0.6817767708432008 1.0 0.9048680183028244 6 Q9NS87 1 |
| Congenital bilateral hip dislocation 0.4256243213897934 0.4080637345381538 0.6832268839309092 1.0 0.9048680183028244 2 Q9Y4R8 1 |
| Hemoglobinuria 0.4890743368520443 0.4077201857644286 0.6834791160597542 1.0 0.9048680183028244 3 Q969N2 1 |
| Poor appetite 0.3426901446286884 0.4074625537268438 0.6836682916511401 1.0 0.9048680183028244 15 Q70HW3 1 |
| Dysphagia 0.2538578977197937 0.4065423241490478 0.684344165405881 1.0 0.9050504734808644 160 O75874,Q06787,P03886,Q8N9N2,Q9UHD2,Q8N183,Q93063,Q92734,P67870,Q03164,P48735,Q8IZA0,Q9Y2Q9,Q86U42,Q9NR77,O95155,P49768,P35637 18 |
| Sclerocornea 0.3485113675384551 0.4034912829227536 0.6865868462049063 1.0 0.9064355331153618 14 Q9UBM7,O15078,P53701,O96028 4 |
| Decreased circulating total igm 0.3924107312133372 0.4033438883074676 0.686695259336322 1.0 0.9064355331153618 9 Q13724,O43909,Q969N2,P50851,Q14790 5 |
| Bulbous nose 0.2758014965788641 0.4023282790353603 0.6874424453255243 1.0 0.9066523854953809 51 Q93074,Q06787,O75845,Q93063,P42892,P21281,Q8N201,O43909,Q9NS87,Q13409,Q96GM5,P38159,P23786 13 |
| Sloping forehead 0.277052859696163 0.4008290911699176 0.6885459590535663 1.0 0.9066523854953809 54 P98175,O15078,Q9BX63,Q08J23,Q13409,P09471,O43683,Q00534,P23786,Q16625 10 |
| Low anterior hairline 0.2786164973693213 0.3995406793545628 0.6894948560048206 1.0 0.9066523854953809 60 Q6KC79,P18077,P21281,P62899,P46777,Q969E8,P42766,Q08J23,O95831,P61254,Q96GM5,P62847 12 |
| Lacticaciduria 0.4248647343029391 0.3993748343062799 0.6896170340423533 1.0 0.9066523854953809 7 P03886 1 |
| Femoral bowing 0.3650856681962599 0.3979774690683592 0.6906467940085306 1.0 0.9074912840465624 11 Q7RTS9 1 |
| Aplasia hypoplasia of the ribs 0.3090267836349596 0.397583337090259 0.6909373452177598 1.0 0.9074969186147936 28 Q03164 1 |
| Abnormality of the pylorus 0.2845665591419616 0.3965470706051606 0.6917014904276089 1.0 0.9075227248358496 40 P31150,P51812,P50542 3 |
| Large placenta 0.4854056773045898 0.3963681382464372 0.6918334673636521 1.0 0.9075227248358496 3 O75844 1 |
| Lagopthalmos 0.4854056773045898 0.3963681382464372 0.6918334673636521 1.0 0.9075227248358496 3 O75844 1 |
| Increased intramyocellular lipid droplets 0.4239255540952936 0.3960629141780302 0.6920586161440467 1.0 0.9075638474944192 7 Q9BUK6 1 |
| Autosomal dominant germline de novo mutation 0.4220955483170464 0.3954570409627539 0.6925056196344079 1.0 0.907641706338632 2 P24928 1 |
| Abnormality of the 2nd toe 0.3587215340801684 0.3945199088753054 0.693197231499439 1.0 0.908039897933391 12 Q93074,P21281,P31150,Q9BZI7,P51812 5 |
| Normochromic anemia 0.3142559792665134 0.3930852019994658 0.6942565533176142 1.0 0.908665019336609 25 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Eyelid myoclonus 0.3763622948552462 0.3908477607031268 0.6959097694206142 1.0 0.9099544100375984 10 P00374 1 |
| Impaired vibratory sensation 0.2846126251697579 0.3906258789195966 0.6960737939109283 1.0 0.9099544100375984 38 Q06787,Q9Y6B6,O75298,O00165,Q9NR77,Q9H0B6,O00400 7 |
| Gastrointestinal carcinoma 0.2875187218644094 0.390254764365212 0.6963481694111564 1.0 0.9099544100375984 36 P18077,P62899,P46777,Q07812,P62847,Q969E8,P42766,P61254,O43683 9 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2520592791671171 0.3890300210650522 0.6972539386292003 1.0 0.9100446473245666 162 P18077,P62899,Q03164,O95831,Q08J23,P42766,O00116,Q06787,Q93063,P31150,A1X283,P38435,Q7RTS9,Q96AY3,P50542,Q8WTW3,P51812,P62847,Q6KC79,Q32P28,Q9NS87,Q969E8,Q9BX63,Q9Y2Q9,Q9UBM7,P09471,Q15555,O15111 28 |
| Aplasia hypoplasia of the extremities 0.2497891459168363 0.3871820342752249 0.6986214495031327 1.0 0.9115754382901003 209 P18077,P62899,Q03164,P48735,O95831,Q08J23,P42766,O00116,O75874,Q06787,Q93063,Q15392,P31150,A1X283,P38435,Q7RTS9,Q96AY3,P50542,Q8WTW3,Q8N3R9,P51812,O95155,P62847,Q6KC79,Q32P28,Q9NS87,Q969E8,Q9BX63,Q9Y2Q9,Q9UBM7,P09471,Q15555,O15111 33 |
| Hip pain 0.4689157707078592 0.3852671501471262 0.7000394969852615 1.0 0.9122201315271908 5 O75844,P22626 2 |
| Anemia of inadequate production 0.2753800985191877 0.384201384567856 0.7008291921886043 1.0 0.9122201315271908 73 P18077,P62899,P46777,P42766,Q9BXW9,Q9Y285,P00374,P41440,P62913,Q99707,Q9UER7,P61254,P22830,P62847,Q9BX63,Q969E8,Q03426,Q01130,P62263 19 |
| Tremor by anatomical site 0.2965035234687622 0.3832250834815438 0.7015528811721985 1.0 0.9122201315271908 32 Q9NP58,Q16637,P35637,Q9NR77 4 |
| Semilobar holoprosencephaly 0.484790874524724 0.3821098432215668 0.7023798909761967 1.0 0.9122201315271908 4 O94979,Q8N3U4,Q14683 3 |
| Parietal cortical atrophy 0.4180238870792615 0.3811256241055171 0.703110034495587 1.0 0.9122201315271908 2 Q9UNE7 1 |
| Pancreatic hypoplasia 0.4400322670474004 0.3807513850805786 0.703387735848906 1.0 0.9122201315271908 6 Q9UKG1,Q5F1R6 2 |
| Aplasia hypoplasia of the optic nerve 0.3121255293819991 0.3806724561180883 0.7034463095672081 1.0 0.9122201315271908 25 Q93074,Q9Y5P6,P61978,P37268,P07196 5 |
| Abnormal glycosylation 0.3082308152539665 0.3798164668143852 0.7040816580094849 1.0 0.9122201315271908 27 Q8WTW3,Q9H0U3 2 |
| Bilateral single transverse palmar creases 0.3211984563729687 0.3794330498774855 0.7043663119414709 1.0 0.9122201315271908 19 Q8IYB7,P50542 2 |
| Abnormal glucose homeostasis 0.2453319827453737 0.3794310347629658 0.7043678080992442 1.0 0.9122201315271908 196 P11310,P03886,Q96MW5,Q9NPL8,O43772,Q8IYB7,P53985,O00217,O43395,Q06787,P61457,P49419,P42771,Q96CU9,Q9UKG1,Q8N183,Q9NSE4,O96000,P23786,Q92734,O43676,Q9Y2Q9,Q8TB37,P16930 24 |
| Dysmetria 0.2764087827231225 0.3782942022406912 0.7052120519236709 1.0 0.9125145884865112 66 Q06787,O75503,Q9NPL8,Q8N183,Q8NF91,P41440,Q9BUK6,Q6DKK2,O15121,Q8IV08,Q5T8D3,Q9H1B7 12 |
| Mesomelia 0.3982959034505858 0.3775190537510161 0.7057879072886715 1.0 0.9125145884865112 8 Q9NS87 1 |
| Hypoventilation 0.3427859861302642 0.3767545090400969 0.706356050237797 1.0 0.9125145884865112 14 Q00577,Q8N183,P61978,P51608,Q14203,Q9H9S5,P11047 7 |
| Broad nasal tip 0.2754035841657792 0.3737427061469973 0.7085957491242207 1.0 0.9129390189545106 59 Q93063,P31150,P61978,O95831,A1X283,P51812 6 |
| Horseshoe kidney 0.2748712646965206 0.3682366896687116 0.7126967550015786 1.0 0.9151518792630636 47 P98175,O75845,P18077,P62899,O43909,P46777,Q969E8,P42766,Q9BXW9,P61254,Q96GM5,P62913,P62847,O15111 14 |
| Childhood onset 0.2776507536485984 0.3663516913682307 0.7141026623970217 1.0 0.9155346283279758 44 Q8NF91,O00165,O60524,P22830,Q9NR77,Q14566 6 |
| Posterior pituitary dysgenesis 0.4737985338039845 0.3613622925144421 0.7178286324113281 1.0 0.9174484698915022 3 Q9UHX1,P42356 2 |
| Abnormal brainstem morphology 0.2579653739979345 0.3607549557298218 0.7182826384235752 1.0 0.9174484698915022 99 P03886,Q9NPL8,O15078,Q8N183,O43676,O95831,O15121,O00217,Q8TB37,Q96CU9,Q9Y5P6 11 |
| Peripheral cyanosis 0.3929694968055635 0.3582263913034608 0.7201738985954513 1.0 0.9184328583121258 8 P51812 1 |
| Duplication involving bones of the feet 0.3081704022351115 0.3579381122329335 0.7203896282880122 1.0 0.9184328583121258 25 Q96T58,O75845,O15078,O43909,Q8NCM8,Q9UBM7,O95155,O43924 8 |
| Generalized lipodystrophy 0.4750116919176425 0.353325577665152 0.7238443723335137 1.0 0.9213816786186042 4 O75844 1 |
| Abdominal distention 0.2985884961944955 0.3480354747486467 0.7278135419554046 1.0 0.9235696628670712 29 O43681,Q7RTS9,Q01844 3 |
| Coarctation of aorta 0.2758999916120808 0.3476509665393666 0.728102325182705 1.0 0.9235696628670712 43 P18077,P55263,P62899,Q9H9B1,P46777,P62847,Q969E8,P42766,Q9UBM7,P61254,P62913,O43683 12 |
| Short palpebral fissure 0.2857773035962309 0.3464687681800252 0.7289904518009656 1.0 0.9236514208930086 34 P55795,Q03164,Q9NS87,Q9BX63,Q15555 5 |
| Leukemia 0.2727963831011684 0.3462748072064304 0.7291361997728509 1.0 0.9236514208930086 64 P52732,P18077,P62899,P46777,Q07812,P62847,Q969E8,P42766,Q08J23,Q9BXW9,Q9H1A4,O00165,P61254,P42771,P62263,P62913,O43683,Q01130 18 |
| Male sexual dysfunction 0.3417989638486488 0.3456105776136703 0.729635395531087 1.0 0.9237126848702004 13 O75298,P07686 2 |
| Bloody diarrhea 0.4290405811383801 0.3453678582054527 0.7298178377150846 1.0 0.9237126848702004 6 Q9UER7 1 |
| Large earlobe 0.3879363405448957 0.3403624900736997 0.7335835627881964 1.0 0.9259207557599216 8 Q96T58,Q15392,O60701 3 |
| Flat occiput 0.3100942974545711 0.3402657762497981 0.7336563877036011 1.0 0.9259207557599216 22 P50542,A1X283 2 |
| Small hand 0.2846964776330146 0.3394674694239572 0.7342575993203502 1.0 0.92599417423833 34 Q6KC79,Q06787,Q8WTW3,Q08J23,O15111 5 |
| Depression 0.2501379598181475 0.338755443622417 0.734793969463094 1.0 0.9261155280571968 117 P03886,Q9UHD2,Q9H9B1,Q9BUK6,Q08J23,O43681,Q15165,O60524,P51812,Q92804,P49768,P35637 12 |
| Abnormal acetabulum morphology 0.3009677276298974 0.3372462479055228 0.7359312764192107 1.0 0.9261791908055876 27 Q7RTS9,Q9Y584,P08236,Q8WTW3 4 |
| Breech presentation 0.3626224156692174 0.3367514249790253 0.7363042936093525 1.0 0.9261791908055876 10 Q969X5,Q9Y619,P18583,P06753,Q9UBM7,Q9UHJ6,O43933,O75718,Q7LBC6 9 |
| Toe syndactyly 0.2709963267429926 0.330756166528556 0.7408286730022884 1.0 0.9285933020087186 65 Q93074,Q6KC79,O75845,P21281,P31150,Q8NCM8,Q13045,Q9BX63,P37268,Q9BXW9,Q08J23,Q9Y2Q9,Q9UBM7,P11233,P51812,Q15427,O43924 17 |
| Abnormality of upper limb joint 0.2520105808993267 0.3305626256286464 0.7409748809177295 1.0 0.9285933020087186 138 P42892,Q15392,Q03164,O95831,P37268,Q8IZA0,A1X283,Q9NR77,Q7RTS9,P50542 10 |
| Neurodegeneration 0.2904350571531629 0.3280725464881384 0.7428568109705869 1.0 0.9297288244626544 31 Q9UHD2,P08236,Q6DKK2,Q15165,Q92804,P35637 6 |
| Variable expressivity 0.2620131503020573 0.3275800127255585 0.7432292363206634 1.0 0.9297288244626544 85 Q70HW3,P03886,P00374,Q8NI60,Q13586,Q9Y2R9,O15121,P08237,O00217,P00403,Q8TB37,P49959,Q9NR77,Q15427,P43243,Q9Y5P6 16 |
| Kinetic tremor 0.2782108872698863 0.3272152151668545 0.743505113733214 1.0 0.9297288244626544 36 Q9Y287,P41440,O43681,Q06787 4 |
| Mitochondrial inheritance 0.4230608583477135 0.3267290358114666 0.743872837069909 1.0 0.9299403352905456 6 P03886 1 |
| Dysphasia 0.3071654222976681 0.324550955553949 0.7455209511299259 1.0 0.9317519653433262 22 P49768,P17480,Q9H9B1,Q9UQN3 4 |
| Reduced forced expiratory volume in one second 0.4006514657980454 0.3227168780346006 0.7469096686956398 1.0 0.93200158827433 2 O95453 1 |
| Cholangitis 0.4006514657980453 0.3227168780346003 0.74690966869564 1.0 0.93200158827433 2 Q9Y276 1 |
| Shield chest 0.421666571217794 0.3224473632930226 0.7471138078970392 1.0 0.93200158827433 6 Q7RTS9 1 |
| Nonimmune hydrops fetalis 0.2937156599554155 0.3192144295072655 0.7495639157432159 1.0 0.9338142637471348 29 P18077,P62899,P46777,Q969E8,P42766,O96000,P61254,O75879,P62847 9 |
| Webbed neck 0.2727992545188002 0.3168472619200598 0.7513595005340137 1.0 0.935365524885886 41 P18077,P62899,Q03164,P46777,Q969E8,P42766,Q9Y2W2,P61254,P62847 9 |
| Acne inversa 0.4459783750328884 0.3167829430586399 0.7514083076277394 1.0 0.935365524885886 5 P49768 1 |
| Thromboembolism 0.4455311056777944 0.3155064209480945 0.7523771766298615 1.0 0.9363226994838272 5 O95235,Q9Y4U1,P10644,P22314 4 |
| Spinal deformities 0.3991708422174506 0.3127769443445745 0.7544501329029225 1.0 0.938123245606142 7 Q9Y5P6 1 |
| Pseudobulbar paralysis 0.3797250023281535 0.312019179140573 0.755025947616816 1.0 0.938123245606142 8 Q15233,Q14203 2 |
| Neoplasm of the colon 0.2714077646689743 0.3111242331087505 0.755706179381155 1.0 0.9387193734859282 42 P18077,P62899,P46777,P62847,Q969E8,P42766,P61254,P42771,O43683 9 |
| Abnormal response to endocrine stimulation test 0.4558783600326003 0.3102200410531284 0.7563936312491741 1.0 0.939075125964974 3 P16435,Q9NW13 2 |
| Hyperventilation 0.3787842019114907 0.3088373456726331 0.7574452591421008 1.0 0.9393845732421764 8 P03886 1 |
| Abnormal 2nd finger morphology 0.3973732944846959 0.3070500697941851 0.758805261547403 1.0 0.9398880325508542 7 Q9NS87,Q9H6K4 2 |
| Skeletal dysplasia 0.2657128958736565 0.3060756721765633 0.7595470303935752 1.0 0.9402008424565096 55 Q7RTS9,O95831 2 |
| Thrombocytosis 0.2864734061230709 0.3042548578475837 0.7609337340175018 1.0 0.9402008424565096 31 P18077,P21281,P62899,P46777,Q969E8,P42766,P61254,P62913,P62847 9 |
| Ocular pain 0.457404782746165 0.3040652913616369 0.7610781491162293 1.0 0.9402008424565096 4 Q15043 1 |
| Abnormal placental size 0.4573835290400587 0.3040079215186537 0.7611218561174338 1.0 0.9402008424565096 4 O75844 1 |
| Polyphagia 0.365532671376516 0.3034472954742477 0.7615490070834479 1.0 0.9402008424565096 9 O95155,P49768,Q4J6C6 3 |
| Enlarged cisterna magna 0.3016072394133772 0.3028153709581987 0.7620305687428932 1.0 0.9402008424565096 23 P49419,Q9NPL8,A1X283 3 |
| Increased head circumference 0.2497480767412702 0.3019799196592668 0.7626673705737379 1.0 0.940629785724734 142 P11310,O75179,Q06787,P07686,Q15392,Q93063,P31150,P08236,P56377,P78318,P51812,P50542 12 |
| Enlarged posterior fossa 0.2672339003840541 0.300231306039574 0.764000727134813 1.0 0.941530369782192 63 Q9NPL8,O15078,P49419,A1X283,P56377,O43683 6 |
| Asymmetric growth 0.3360922715057053 0.2998328962328637 0.7643046214978857 1.0 0.94165707510513 12 O95155,Q15555,Q93063 3 |
| Talipes equinovalgus 0.3933224755700323 0.2994896558001312 0.764566463525632 1.0 0.9416808483784844 2 Q9Y3E5 1 |
| Abnormality of the adrenal glands 0.2664232236700218 0.2947503006682297 0.7681846348228292 1.0 0.9429642581586656 62 O75874,P48735 2 |
| Neoplasm of the male external genitalia 0.3506100765979962 0.2920269089000621 0.7702660499360607 1.0 0.9445289111941796 10 Q01844 1 |
| Toe clinodactyly 0.2889042442698186 0.2915154181830547 0.7706571536852973 1.0 0.94476111275085 29 Q8N3R9,P31150,P51812 3 |
| Short lingual frenulum 0.4519677198533017 0.2895600515105315 0.7721528324782956 1.0 0.945320919651729 4 O75844,P21281 2 |
| Delayed eruption of teeth 0.2624700952554401 0.2888882026160521 0.7726669319585688 1.0 0.945320919651729 53 A1X283,P31150,Q08J23 3 |
| Recurrent pancreatitis 0.4352132113377869 0.2867243534689345 0.7743233888026242 1.0 0.945320919651729 5 P03886 1 |
| Abnormal granulocytopoietic cell morphology 0.4508671658037468 0.2866661434393401 0.7743679636274636 1.0 0.945320919651729 4 Q01130,O75533 2 |
| Type i diabetes mellitus 0.3269509190214596 0.2834870620033235 0.7768034980899445 1.0 0.9462224407479352 13 P03886,P00403 2 |
| Long ear 0.3876221498371334 0.2820383710652333 0.7779140882361781 1.0 0.9462224407479352 2 Q7LBC6 1 |
| Duplication of thumb phalanx 0.2910703201716775 0.2817791311200438 0.77811287375228 1.0 0.9462224407479352 27 P18077,P62899,P46777,Q969E8,P42766,P61254,P62913,P62847 8 |
| Pulmonary edema 0.445289166440418 0.281779122337586 0.7781128804869257 1.0 0.9462224407479352 3 Q13724,O95235 2 |
| Abnormal right atrium morphology 0.4452891664404151 0.2817791223375791 0.7781128804869311 1.0 0.9462224407479352 3 Q7L590,O95235 2 |
| Functional abnormality of the inner ear 0.2561647430055944 0.2812589858035314 0.7785117656209031 1.0 0.9464617337494 279 P03886,Q9NPL8,O95831,O00217,O00165,Q9NR77,O43395,Q9Y5P6,P42892,P41440,P31150,P49590,Q96CU9,P50542,Q8N183,Q15043,P78318,P51812,P38159,O95155,Q9UHD2,O43676,Q16740,Q9Y2Q9,P56377,Q8TB37,P49768,P35637,Q86SK9 29 |
| Submucous cleft of soft and hard palate 0.2903687549187157 0.2779668185488209 0.7810378303063803 1.0 0.948269783150873 27 Q08J23 1 |
| Membranoproliferative glomerulonephritis 0.3859934853420194 0.2771535076496373 0.7816622372107052 1.0 0.948269783150873 2 O95394 1 |
| Extra axial cerebrospinal fluid accumulation 0.3859934853420192 0.277153507649637 0.7816622372107054 1.0 0.948269783150873 2 P20700 1 |
| Abnormal urinary color 0.4061950868131734 0.2766445871890484 0.7820530246718138 1.0 0.9483051047483438 6 P23786 1 |
| Mitochondrial respiratory chain defects 0.3872863006123034 0.2757848315132344 0.7827133347809969 1.0 0.9486145307400126 7 P03886 1 |
| Abnormal electroretinogram 0.2721532715837843 0.2739832073790011 0.7840975266276746 1.0 0.949023919634104 35 Q15067,O15078,P51659,Q04837,O43395,Q15555,O43924 7 |
| Visual agnosia 0.4419990626007918 0.2732255224713806 0.784679862022222 1.0 0.9490330046100376 3 P49768 1 |
| Abnormal full field electroretinogram 0.385648714201653 0.2708522778068304 0.7865046502195943 1.0 0.9498698755191196 7 Q15555,O43837,Q15067 3 |
| Abnormal light and dark adapted electroretinogram 0.385648714201653 0.2708522778068304 0.7865046502195943 1.0 0.9498698755191196 7 Q15555,O43837,Q15067 3 |
| Protein losing enteropathy 0.4440926003300508 0.2691716544019114 0.7877975920442808 1.0 0.9503669984300622 4 Q96MW5 1 |
| Abnormal uterus morphology 0.2666067133737559 0.2688529174572757 0.7880428697290798 1.0 0.9503669984300622 38 Q8NCM8,Q07812,Q9BX63,Q9UBM7,P51812,O43683 6 |
| Neoplasm of the large intestine 0.2585352974963967 0.2686252069154595 0.7882181127273888 1.0 0.9503669984300622 51 P18077,P62899,P46777,Q07812,P62847,Q969E8,P42766,P61254,P42771,O43683 10 |
| Prolonged partial thromboplastin time 0.384426594829154 0.2671978497466846 0.7893168316394412 1.0 0.9508915568830354 7 Q8NI22 1 |
| Cutaneous syndactyly 0.3318070706125014 0.2658642918145394 0.7903437266331383 1.0 0.9514600698773744 11 P98175,P21281,O15111 3 |
| Renal agenesis 0.2604563167551128 0.2625109924222966 0.7929275117174648 1.0 0.9538349697849698 56 O75179,P18077,Q15392,P62899,P46777,Q969E8,P42766,Q9UBM7,Q9Y2W2,P61254,Q15427,P62847,Q00534,O43924 14 |
| Aplasia hypoplasia of the cerebral white matter 0.3407368730489295 0.2572323948915328 0.7969993776702826 1.0 0.9570643744034696 10 P03886 1 |
| Motor polyneuropathy 0.3151314851319612 0.2568222110254753 0.797316023102191 1.0 0.9570643744034696 14 P36551,P07196,Q92734,Q8NF91 4 |
| Lower limb metaphyseal irregularity 0.4237978810106096 0.256423199179927 0.7976240761925182 1.0 0.9570643744034696 5 Q9Y3A5,P26373,Q5F1R6,Q96DX4 4 |
| Cellulitis 0.4237978810105997 0.2564231991799014 0.797624076192538 1.0 0.9570643744034696 5 P52732,P02545,P40763,Q8IWT6 4 |
| Lung adenocarcinoma 0.4387053468462467 0.2556592327143754 0.7982139767449221 1.0 0.9571370213777785 4 P30154 1 |
| Recurrent skin infections 0.2970946562817486 0.2555095953092014 0.79832953352586 1.0 0.9571370213777785 18 P78536 1 |
| Retinal dysplasia 0.3506930926310673 0.2533309556280729 0.8000124769636103 1.0 0.9580695542989032 9 P52732,P53701,Q9H9S5,O43924 4 |
| Loss of subcutaneous adipose tissue in limbs 0.4375943333688707 0.2529173819629728 0.8003320571979706 1.0 0.9580695542989032 4 O75844 1 |
| Ankle clonus 0.2964861668070022 0.2527076500061861 0.8004941358754349 1.0 0.9580695542989032 18 Q8N0X7,Q8NF91,O75298,Q9NW15,Q15043 5 |
| Hypergonadotropic hypogonadism 0.3029421161728138 0.252538398307018 0.800624938094108 1.0 0.9580695542989032 16 Q9BQP7,Q16740,P22307,P49959,P48449 5 |
| Abnormal magnesium concentration 0.3967757277659611 0.2503684431453833 0.8023024313284304 1.0 0.9589541311666768 6 P61457 1 |
| Abnormal blood gas level 0.4325278305729226 0.249376527323138 0.8030695401927763 1.0 0.9593812899802988 3 Q9Y3E5,A5YKK6 2 |
| Cardiac conduction abnormality 0.2679227678371298 0.2483689623759822 0.8038489457644369 1.0 0.9595780303377156 35 P03886,P00403,O43772,P23786 4 |
| Ureteral duplication 0.34800338503952 0.244670842487664 0.8067113062619877 1.0 0.9613042640240528 9 O15078 1 |
| Orthostatic hypotension 0.3010540009099107 0.2443959809960813 0.8069241541252408 1.0 0.9613042640240528 16 P07686 1 |
| Curly eyelashes 0.4189944021820362 0.2441768956688852 0.8070938201576012 1.0 0.9613042640240528 5 Q6KC79 1 |
| Irregular menstruation 0.3940184521707327 0.2429179487801326 0.8080689608492233 1.0 0.961482067668342 6 Q06787,P10644,O00170 3 |
| Polymicrogyria 0.2534082957049978 0.2428610355464123 0.8081130511088177 1.0 0.961482067668342 85 P15311,P21281,Q15392,Q16625,P51659,Q01105,O00459,P37268,Q08J23,P23786,Q15427,P67870,O60524,P50542,Q9Y5P6 15 |
| Generalized hyperkeratosis 0.3935754340935308 0.2417312374593293 0.8089884232500033 1.0 0.9617245389362276 6 O75844,P04066 2 |
| Dilated fourth ventricle 0.2563401193744711 0.2415924726427045 0.8090959553012129 1.0 0.9617245389362276 48 O43683,P56377,O15078 3 |
| Optic disc coloboma 0.4178504402638493 0.2413054995608451 0.8093183487839282 1.0 0.9617245389362276 5 P78318 1 |
| Reduced forced vital capacity 0.4326453014666044 0.2408926348078822 0.8096383306498618 1.0 0.9618306195924156 4 O95817,Q9H9S5,O95453 3 |
| Toe walking 0.2813606357855012 0.2394911329710194 0.8107247713081995 1.0 0.9621449832834006 28 P35637,O95831 2 |
| Hypercholesterolemia 0.3242793456958217 0.2389477464013148 0.8111461014229546 1.0 0.9624011129880152 11 Q8N511,Q13045 2 |
| Stroke like episode 0.3351107808623255 0.2382490957726048 0.8116879002833717 1.0 0.9624407946283045 10 P03886,P00403,Q13586 3 |
| Acanthocytosis 0.3918864450203537 0.2372334865648246 0.8124756591704556 1.0 0.9624407946283045 6 Q9Y6B6,O75845 2 |
| Aphasia 0.2549760779132861 0.2323199586122366 0.8162895117342976 1.0 0.9644532986668344 48 P31483,P03886,Q9H9B1,P22626,Q8N3R9,P17480,P00403,P49768 8 |
| Protruding tongue 0.3136052429056691 0.2317018819824119 0.8167695695494952 1.0 0.964585326830402 13 P67870,Q9H9B1 2 |
| Abnormality of fontanelles 0.2551719030743918 0.2312680660787227 0.8171065538193902 1.0 0.964585326830402 54 A1X283,P51812,P50542,Q08J23 4 |
| Pharyngitis 0.4235677436872346 0.2279015739194188 0.8197227591091758 1.0 0.9660826610737948 3 P01889,O15460 2 |
| Vitiligo 0.3420722487306987 0.2260546853225137 0.8211588881969645 1.0 0.9674181316795936 9 P03886,P00403 2 |
| Recurrent herpes 0.4219319327679797 0.2240976450770458 0.822681324844416 1.0 0.96846841473626 3 Q14790 1 |
| Zonular cataract 0.3111576849381567 0.2226541948839143 0.8238046535986585 1.0 0.9690537526535008 13 P29992,Q9H6K4,P08670 3 |
| Short foot 0.2654160268558462 0.2223120040093338 0.824071008057067 1.0 0.9690537526535008 34 O95155,Q8WTW3,Q08J23 3 |
| Aplasia hypoplasia involving the sinuses 0.4095121310376248 0.2209094695955833 0.825162923898024 1.0 0.9696958526008648 5 P04066 1 |
| Unusual fungal infection 0.3294890438191754 0.2199188223996779 0.8259343769934424 1.0 0.969756288902448 10 O14920,Q9Y5L0,Q03426,P42224 4 |
| Abnormality of globe size 0.2546899716132624 0.2197797737221169 0.8260426727379597 1.0 0.969756288902448 79 O15078,Q9NP58,Q8N201,Q9BX63,Q9BUK6,A1X283,O15347,O43683,Q15555,O00459,O43924,Q9Y5P6 12 |
| Early onset of sexual maturation 0.2518836889375548 0.2186495420413505 0.8269230574471624 1.0 0.9703033520483744 49 O75874,Q9H9B1,P48735,Q13045,Q8N3R9,P09471 6 |
| Increased serum iron 0.4175943524301071 0.2141880196124641 0.8304004382655741 1.0 0.9720238548781528 3 Q9Y276,Q02241 2 |
| Adenocarcinoma of the intestines 0.2809616051372727 0.2140322699753578 0.8305218924242852 1.0 0.9720238548781528 25 P18077,P62899,P46777,Q969E8,P42766,P61254,P62847 7 |
| Blepharitis 0.2879601616280531 0.213454391785083 0.8309725593899187 1.0 0.9720238548781528 17 P78536,Q15800 2 |
| Limitation of neck motion 0.4207911278572852 0.2133709185149275 0.8310376618689663 1.0 0.9720238548781528 4 O94905,Q9UHD2 2 |
| Abnormal localization of kidney 0.2562036333629088 0.2105329564575903 0.8332517324741064 1.0 0.973371040764016 70 P18077,P62899,P46777,P42766,Q9BXW9,Q96GM5,Q9Y5S9,Q13045,P62913,P98175,P61254,P62847,Q6KC79,O75845,O43909,Q9BX63,Q969E8,Q9UBM7,O00459,O15111 20 |
| Contractures of the joints of the upper limbs 0.2466428816002346 0.210498304531711 0.8332787748073756 1.0 0.973371040764016 89 P42892,Q15392,P37268,A1X283,Q8IZA0,Q9NR77,P35637,P50542 8 |
| Epistaxis 0.286266692992807 0.2072662264166322 0.8358019488263151 1.0 0.9734384261231608 18 Q8NI22,Q6UN15,P35579,Q9Y3A5,P10644,Q86YV9,P01889,Q13586,P38435 9 |
| Submucous cleft soft palate 0.4141671690477242 0.2065416340558989 0.8363678464833595 1.0 0.9734869379057496 3 Q15233 1 |
| Flat forehead 0.4030728108823799 0.2058123248091529 0.8369375134958748 1.0 0.9734869379057496 5 Q93063,Q9NSE4 2 |
| Aplasia hypoplasia involving the metacarpal bones 0.2726148007894657 0.2039144839807678 0.8384203263042296 1.0 0.9745153606559214 29 Q7RTS9,Q32P28,P51812 3 |
| Nasogastric tube feeding in infancy 0.3422477710584231 0.196730143684201 0.8440387197926549 1.0 0.9783745853438124 8 P61978 1 |
| Muscle fiber atrophy 0.2784094284868577 0.194784875797946 0.8455613628719374 1.0 0.9789280252977214 24 P61978,P22626,Q13586,P23786,P35637 5 |
| Progressive visual loss 0.2767784108265685 0.1940979261790071 0.846099205419004 1.0 0.9793085958915462 25 O75503,O15078 2 |
| Generalized onset seizure 0.2388816559665499 0.1936024994870207 0.8464871409157388 1.0 0.9795155129499394 120 P03886,O75503,Q9H9B1,P00374,P49419,P31150,P61978,Q08J23,Q8TB37,P51812,P67870,O60524 12 |
| Bifid scrotum 0.3721488921086734 0.1878776253296595 0.8509725827915637 1.0 0.9807123873933408 6 Q9UBM7,Q96EK5 2 |
| Abnormality of the ovary 0.2528893460693096 0.1875654652865479 0.8512173004102763 1.0 0.9807123873933408 73 O75874,P48735,Q01844,O15078 4 |
| Congenital hypothyroidism 0.4082542596104869 0.1862880684591073 0.8522188636831056 1.0 0.980831154089324 4 P21281 1 |
| Elevated lactate pyruvate ratio 0.4072620085262508 0.1842352831868923 0.8538288812240029 1.0 0.981463095427591 4 O96000 1 |
| Reduced tendon reflexes 0.234130992438525 0.1830666298670394 0.8547457387693944 1.0 0.9819294073480332 199 P11310,P03886,P51114,Q9BUK6,O95831,O43681,Q9NR77,O14979,Q9Y5P6,Q06787,Q9Y6B6,Q8N9N2,P41440,Q13045,Q13586,O75477,Q16637,Q9H0B6,Q96AY3,P50542,Q9H6K4,Q9NSE4,P61978,Q7Z406,Q9UHD2,Q92734,P35637 27 |
| 2 3 toe syndactyly 0.2661079611637953 0.1809013909424152 0.8564449770520424 1.0 0.9830197743558609 30 Q6KC79,P31150,P37268,Q9UBM7,P51812,O43924 6 |
| Abnormality of vitamin k metabolism 0.3912689564624092 0.1796567492616265 0.8574220499606362 1.0 0.9833893809819566 5 Q9UDY2,Q5F1R6 2 |
| Abnormal circulating proteinogenic amino acid concentration 0.2557383426197064 0.1792128462611545 0.8577705771645778 1.0 0.9833893809819566 35 Q99707,P61457,P41440,P20674,O96000,P16930 6 |
| Increased adipose tissue 0.4042415328739129 0.1780693066054491 0.8586685465444737 1.0 0.9836459891065974 4 P02545 1 |
| Abnormality of skin physiology 0.2383819895719463 0.1775482539654135 0.8590777660614615 1.0 0.9837264454102524 105 P28070,Q15800,P14174,Q08J23,A1X283,P22830,P78536 7 |
| Slender long bone 0.2844514137937137 0.1770848350774495 0.8594417535267054 1.0 0.9837264454102524 16 P37268 1 |
| Chorioretinal dysplasia 0.3671213437146098 0.1762771568015791 0.8600762072432089 1.0 0.9837264454102524 6 P52732,P53701 2 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2363163287844043 0.1736051599217194 0.8621757765726727 1.0 0.9852535777671612 108 Q03164,Q7RTS9,O95831,Q08J23 4 |
| Exercise induced myoglobinuria 0.3875906691849287 0.1719150799923851 0.8635042909729351 1.0 0.9861301912770866 5 P08237,P00558 2 |
| Chronic mucocutaneous candidiasis 0.3328587656283787 0.1718256325290722 0.863574613373336 1.0 0.9861301912770866 8 O14920,Q03426,P42224 3 |
| Aganglionic megacolon 0.2715870058926077 0.1702631987077444 0.864803151809967 1.0 0.987051708487954 25 P42892 1 |
| Carcinoma 0.3857647378429798 0.1681450512596174 0.8664691680793744 1.0 0.9883478296276524 5 Q07864,O60832,P43246,P28340 4 |
| Saccadic smooth pursuit 0.3628830244792658 0.166812280465326 0.8675177556657514 1.0 0.9883478296276524 6 Q06787 1 |
| Postaxial polydactyly 0.2695947246234691 0.166760147425777 0.8675587772646682 1.0 0.9883478296276524 26 P98175,O75845,O15078,P61978,Q8NCM8,Q9UBM7,O00459,O43924 8 |
| Esophageal atresia 0.330853669381642 0.1667273482249797 0.8675845859495279 1.0 0.9883478296276524 8 Q8NCM8,Q9Y2W2,Q96GM5 3 |
| Fat malabsorption 0.31182125025515 0.1666746732821916 0.8676260345413183 1.0 0.9883478296276524 10 Q9UDY2,Q9Y6B6,Q9Y3E5,Q5F1R6 4 |
| Tube feeding 0.2503078942767009 0.166136860290817 0.8680492469055165 1.0 0.9883478296276524 72 Q92734,P61978,P37268,Q08J23,O15121,P35637,P17480,P67870,O60524 9 |
| First degree atrioventricular block 0.3420195439739411 0.1634535669394807 0.8701613296151025 1.0 0.9891768712926708 2 P02545 1 |
| Prominent nasal bridge 0.2481294706698519 0.1622100717801337 0.8711404287065454 1.0 0.98953861788466 60 Q93063,O15078,P42892,Q08J23,P78318 5 |
| Postnatal growth retardation 0.2496479847654417 0.1621555267533436 0.8711833807213265 1.0 0.98953861788466 73 Q03164,Q7RTS9,Q8WTW3,Q08J23 4 |
| Left ventricular hypertrophy 0.2657171019038303 0.1621240844926076 0.8712081404096632 1.0 0.98953861788466 28 P03886,Q8WTW3,P13807,P00403,O00170,P78536 6 |
| Diaphragmatic eventration 0.3822807678797942 0.161086669118325 0.8720251396267642 1.0 0.9900793443540064 5 P38935 1 |
| Orofacial dyskinesia 0.3280402287204688 0.1597061830121363 0.8731125300854365 1.0 0.9904644853426414 8 P09471,P49959 2 |
| Cerebellar cyst 0.2443821420010638 0.1590457585936407 0.8736328224880643 1.0 0.9904644853426414 47 O43683,P56377,O15078 3 |
| Abnormality of skeletal maturation 0.2378368565948186 0.1573018483712826 0.8750069636052615 1.0 0.9904644853426414 102 Q03164,Q9BUK6,Q15800,O95831,Q08J23,P51812 6 |
| Alopecia universalis 0.339033659066232 0.1570622057715751 0.875195823264542 1.0 0.9904644853426414 2 P02545 1 |
| Megalocornea 0.2835584453911333 0.1563255982949985 0.8757763798595342 1.0 0.990679648680988 15 Q9Y5P6 1 |
| Obsessive compulsive behavior 0.2446598413052166 0.1562197552656384 0.8758598054592768 1.0 0.990679648680988 46 Q6KC79,Q06787,O75503,P55795,Q9H9B1,Q6DKK2,P49768 7 |
| Cerebral hamartoma 0.3926057978452225 0.1554910329252701 0.8764342226560045 1.0 0.9908651587769112 4 O43924 1 |
| Gangrene 0.2974307829534781 0.1532782886172754 0.8781788215166879 1.0 0.9916437517867468 11 P52732,Q6UN15,P10644 3 |
| Abnormality of small intestinal villus morphology 0.3250592292800361 0.1524367052570436 0.8788425087348763 1.0 0.9916437517867468 8 P78536,Q9H3U1,P50851 3 |
| Abnormal mitochondrial morphology 0.2823793183459014 0.1522478896081646 0.8789914237380083 1.0 0.9916437517867468 15 P35637,Q7Z406,Q9UHD2,P46976 4 |
| Acne 0.2722789953803512 0.1503436773669216 0.8804934750182671 1.0 0.9923399584921416 18 P49768,O00170,A1X283 3 |
| Abnormal size of the palpebral fissures 0.2362056769585012 0.1452744909102811 0.8844941543510818 1.0 0.9938371505914756 103 P55795,Q8N201,Q03164,P31150,P61978,Q08J23,Q8N3R9,P51812,P38159 9 |
| Generalized hypotonia 0.2358484023236829 0.145202464925434 0.8845510198319533 1.0 0.9938371505914756 397 P11310,O43772,Q03164,Q9BUK6,O95831,Q08J23,O43681,O00217,Q9NR77,O00400,Q9Y5P6,Q70HW3,Q8N9N2,Q93063,P00374,P61457,P49419,Q96CU9,P50542,Q8N183,Q53FT3,Q7KZN9,Q8WTW3,Q93100,P61978,P30084,P51812,P67870,Q8N511,P23786,O15078,Q9H9B1,O43676,Q9Y2Q9,P56377,O60524 36 |
| Abnormal enchondral ossification 0.2453509011350165 0.1449076365352091 0.8847837969961152 1.0 0.9938371505914756 39 P08236,P38435,O00116,Q7RTS9,P50542 5 |
| Malnutrition 0.3216004472852686 0.1442225609152906 0.8853247261523074 1.0 0.9938371505914756 8 Q9Y6B6,Q9Y3A5,Q5F1R6,P20700 4 |
| Abnormality of facial adipose tissue 0.386203150461716 0.1438691910141697 0.8856037645565296 1.0 0.9938371505914756 4 O75844,O14802,P02545 3 |
| Increased hepatic glycogen content 0.3730107787220519 0.1431743867112101 0.8861524578399831 1.0 0.994003152226912 5 P06737,Q93100 2 |
| Upper limb muscle weakness 0.2629710416507597 0.1431443195241734 0.8861762034053722 1.0 0.994003152226912 27 Q9Y5P6,Q8N0X7,Q92734,P46976,Q8NF91,Q13642,P36551,P07196 8 |
| Distal upper limb muscle weakness 0.3203658200045985 0.1413481124368374 0.8875949428902057 1.0 0.9941657779370564 8 Q9Y5P6 1 |
| Facial edema 0.2536495678386263 0.1402287540766242 0.8884792538914867 1.0 0.9941744005498716 32 Q8N1F7,P28070,Q9Y244,Q9H1A4,Q14C86,O00170,Q9Y5K6,Q15056,P50542 9 |
| Impacted tooth 0.3798903878266304 0.1392162454504686 0.8892792714980324 1.0 0.9941744005498716 3 O75844 1 |
| Aplasia hypoplasia affecting the fundus 0.25894691877123 0.1386350718884171 0.8897385275520187 1.0 0.9941744005498716 29 Q93074,P61978,P37268,Q86YV9,P07196,Q9Y5P6 6 |
| Microcornea 0.2552944199129188 0.1384021432373057 0.8899226032603089 1.0 0.9941744005498716 31 Q15042,P52732,Q6KC79,O75845,P36404,O15078,Q9NP72,Q13045,P18074,Q9UQE7,O15347,P49454,Q15555,Q9NWM8,Q9H9S5 15 |
| Increased sulfur amino acid level in urine 0.3483186200795735 0.1365133480628083 0.8914154731047903 1.0 0.9941744005498716 6 Q99707 1 |
| Oval face 0.3480389951939245 0.13596565829007 0.8918484295144844 1.0 0.9941744005498716 6 Q96T58,Q9UHX1,Q01082 3 |
| Abnormal systemic blood pressure 0.2320175480444742 0.1345176863929775 0.8929932264728175 1.0 0.9941744005498716 109 Q06787,P03886,P07686,O15078,P42892,O43772,Q93063,Q9UER7,O43681 9 |
| Abnormal cardiac ventricle morphology 0.2368743079916607 0.1335737424651787 0.8937396485669187 1.0 0.9941744005498716 219 P03886,P18077,O43772,P62899,P42766,O00217,O43683,Q9Y5P6,Q93063,P42892,A1X283,Q16637,Q96CU9,P78536,P50542,Q8N183,Q7KZN9,Q8WTW3,P61978,P30084,P00403,P78318,P62847,P23786,Q6KC79,O15078,Q8NF91,Q969E8,Q9UBM7,Q9Y2W2,P09471,O00459 32 |
| Abnormality of long bone morphology 0.2336588501844578 0.1329522502138821 0.8942311439576491 1.0 0.9941744005498716 208 P48735,O95831,Q08J23,Q9NR77,O00116,O75874,Q93063,A1X283,P38435,Q7RTS9,Q13126,Q96AY3,P50542,Q9NSE4,Q8WTW3,P22626,P08236,P37268,Q8N3R9,P51812,Q6KC79,O15078,Q32P28,Q9NS87,Q9BX63,Q9Y2Q9,P09471 27 |
| Adrenocortical carcinoma 0.3751156399112196 0.1311782644791173 0.8956342897984775 1.0 0.9941744005498716 3 P42771 1 |
| Lower limb undergrowth 0.3776633332950331 0.1292588302303558 0.8971528467986047 1.0 0.9941744005498716 4 Q93063 1 |
| Retinal coloboma 0.2859334277821702 0.12898101777491 0.8973726689753827 1.0 0.9941744005498716 12 O15078 1 |
| Breast hypoplasia 0.3730654357860555 0.1278277897130537 0.8982852574568754 1.0 0.9941744005498716 3 Q93008,Q8WWQ0 2 |
| Hypertrichosis 0.2304676619844431 0.1275930769362534 0.8984710101547919 1.0 0.9941744005498716 112 Q8N183,Q7KZN9,Q9H9B1,Q03164,P30084,Q08J23,O00217,Q96CU9 8 |
| Spastic dysarthria 0.3054120206690142 0.1266753174763503 0.8991973822350745 1.0 0.9941744005498716 9 O94905,O14802,Q13608,Q8WVX9,Q8N0X7,Q9Y4W6,Q96GW9,Q9H2M9 8 |
| Abnormal chromosome morphology 0.3232899022801301 0.1262269192485602 0.8995523033081307 1.0 0.9941744005498716 2 O95453 1 |
| Abnormal blood chloride concentration 0.3714363290795722 0.1252086311840669 0.9003583843240044 1.0 0.9941744005498716 3 Q13618,Q9H4A3 2 |
| Abnormally low pitched voice 0.327723064087347 0.1249633112152124 0.900552596013785 1.0 0.9941744005498716 7 Q6KC79,Q15910 2 |
| Language impairment 0.2472056075667755 0.1230151271558415 0.9020951192111484 1.0 0.995642574420412 329 P11310,Q03164,Q9BUK6,O95831,Q08J23,O00400,Q9Y5P6,Q06787,P55795,Q93063,P41440,P31150,P49419,O15121,Q7RTS9,O75503,Q53FT3,Q8WTW3,P22626,P51812,O95155,O75179,Q9UHD2,Q9H9B1,P49768,O60524 26 |
| Thin nail 0.3734462612474548 0.1224196042315855 0.9025667133501788 1.0 0.9959283502872026 4 Q15910 1 |
| Abnormal metacarpal morphology 0.2444673012393685 0.1218853398099061 0.9029898261926396 1.0 0.9959492166815676 35 Q93063,Q32P28,P08236,P51812,Q7RTS9 5 |
| Schizophrenia 0.2614912798892714 0.1217404135893327 0.903104605847685 1.0 0.9959492166815676 24 Q9BQE5,Q9BUK6 2 |
| Abnormality of prothrombin 0.273092426194907 0.1215901135225144 0.9032236436571894 1.0 0.9959492166815676 15 Q96MW5,Q8NI22 2 |
| Preaxial hand polydactyly 0.2791158265956539 0.1183203809360591 0.9058138091780936 1.0 0.9971617462108632 13 O43909,Q8NCM8,O15078,Q9BXW9 4 |
| Rickets 0.3217787772096134 0.1133436421922241 0.9097581186791208 1.0 0.9987766086292876 7 P16930 1 |
| External ophthalmoplegia 0.2569916201695577 0.1129238132927808 0.910090956805867 1.0 0.9987766086292876 26 P03886,Q8N183,Q13586 3 |
| Abnormal blood sodium concentration 0.2908177763390507 0.1124875036712379 0.9104368774820784 1.0 0.9987766086292876 10 Q9UHD2 1 |
| Central adrenal insufficiency 0.3549283603123199 0.1118906513946125 0.9109101091619722 1.0 0.9987766086292876 5 Q9NSE4 1 |
| Osteolysis involving bones of the feet 0.3342391304347719 0.1105385671730187 0.9119822650791758 1.0 0.9987766086292876 6 O75431,O75844,Q9H4A3,P02545,Q12756 5 |
| Foot acroosteolysis 0.3342391304347719 0.1105385671730187 0.9119822650791758 1.0 0.9987766086292876 6 O75431,O75844,Q9H4A3,P02545,Q12756 5 |
| Prominent nose 0.2543285137852982 0.1068899131050193 0.9148763155194284 1.0 0.9996187087208314 27 Q08J23 1 |
| Sparse body hair 0.2877724254037714 0.1054805312029287 0.9159945176509194 1.0 1.0 10 Q06787,P48449,P02545 3 |
| Nyctalopia 0.2367823448370623 0.1024635717414054 0.9183887261647738 1.0 1.0 37 Q9Y287,Q13586,P38435,O43395,P50542 5 |
| Male reproductive system neoplasm 0.2585191656157298 0.1018154676985571 0.9189031480065502 1.0 1.0 17 Q9BX63,Q01844,P42771,P49959 4 |
| Chronic neutropenia 0.3288349839547999 0.1014359691828907 0.9192043844351904 1.0 1.0 6 P50851,Q5F1R6 2 |
| Erythroderma 0.3009559842763674 0.1001800784086477 0.9202013615678372 1.0 1.0 8 O43909,P78536 2 |
| Bone marrow hypercellularity 0.2767826741939097 0.0992602176205584 0.920931664117438 1.0 1.0 11 Q6UN15,P62263,Q01130 3 |
| Pectus excavatum of inferior sternum 0.3067318132464709 0.0989392699602216 0.9211864889355864 1.0 1.0 2 Q02750 1 |
| Reduced factor xii activity 0.3067318132464709 0.0989392699602216 0.9211864889355864 1.0 1.0 2 Q02750 1 |
| Amegakaryocytic thrombocytopenia 0.3067318132464709 0.0989392699602216 0.9211864889355864 1.0 1.0 2 Q02750 1 |
| Third degree atrioventricular block 0.3067318132464709 0.0989392699602216 0.9211864889355864 1.0 1.0 2 P02545 1 |
| Reduced factor xiii activity 0.3067318132464709 0.0989392699602216 0.9211864889355864 1.0 1.0 2 Q02750 1 |
| Abnormality of the skull base 0.2410969251783655 0.0989215865036869 0.9212005294154452 1.0 1.0 72 Q9NPL8,O15078,P49419,A1X283,P56377,O43683 6 |
| Reticulocytosis 0.2685098455804782 0.0974692704520821 0.9223537366362996 1.0 1.0 14 Q9NP58,P08237 2 |
| Addictive behavior 0.2990197090076024 0.0964894448989677 0.9231318565621331 1.0 1.0 8 Q6UN15,Q9UHD2 2 |
| Loss of eyelashes 0.3505906810754418 0.0950334197471152 0.9242882819187483 1.0 1.0 3 O75844 1 |
| Thickened nuchal skin fold 0.256948807649712 0.094918155236111 0.9243798358333692 1.0 1.0 20 P49768,P50542 2 |
| Broad neck 0.2725371322386188 0.0939967163187101 0.9251117651867768 1.0 1.0 12 Q15555,P78318,Q8WTW3 3 |
| Chromosomal breakage induced by crosslinking agents 0.3419967849120885 0.0924730767478976 0.926322181191048 1.0 1.0 5 Q9BX63,Q9BXW9 2 |
| Ventricular fibrillation 0.3393099701168175 0.0887437282090256 0.9292855795240262 1.0 1.0 5 Q9HD47,P49748,P46976,Q9NX14 4 |
| Deep palmar crease 0.2678075908254352 0.0881517226058678 0.9297560876512354 1.0 1.0 13 P98175,P21281,P61978,P42345,O00170 5 |
| Bruxism 0.2861786097140266 0.085965106886461 0.9314941551807598 1.0 1.0 9 P61978 1 |
| Disinhibition 0.2369596002632162 0.0853152893057709 0.9320107367415028 1.0 1.0 62 Q06787,Q9UHD2,Q08J23,P35637,P17480,P15311,P49768,O60524 8 |
| Thyroiditis 0.3049741777657013 0.0839640966879237 0.9330849776237712 1.0 1.0 7 Q96J02,P50851,Q05655,P49327,P42224,Q15437 6 |
| Bicornuate uterus 0.2764344393006093 0.0813045355664683 0.9351997670739384 1.0 1.0 10 Q15427,Q9UBM7,Q9BX63 3 |
| Abnormal metabolism 0.2347085094868889 0.0808891382286332 0.9355301180967046 1.0 1.0 59 P41440,Q8WTW3,Q9H0U3 3 |
| Neoplasm of the larynx 0.3423537538061903 0.0795462575135121 0.9365981399765282 1.0 1.0 4 P52701,P42771 2 |
| Alopecia totalis 0.3138216513610207 0.0786444190174542 0.937315455662169 1.0 1.0 6 Q9H1A4,O75844 2 |
| Periorbital edema 0.2413389541231693 0.07846510979337 0.9374580829779328 1.0 1.0 31 Q8N1F7,P28070,Q9Y244,Q14C86,O00170,Q9Y5K6,Q15056,P50542 8 |
| Disseminated intravascular coagulation 0.3012289220503252 0.0781081868427809 0.9377419949339956 1.0 1.0 7 Q6UN15,Q9Y697 2 |
| Absent eyebrow 0.3133152173912943 0.0779387902875626 0.9378767430543556 1.0 1.0 6 P15924,P36507,Q9H1A4,O75844,P02545 5 |
| Limited wrist movement 0.2884719956498048 0.0777036022031503 0.9380638286287012 1.0 1.0 8 Q9Y223,P21333,Q9H6K4,Q3T906,O75844,P11047,P02545 7 |
| Abnormal fallopian tube morphology 0.287786876558907 0.0765599431300888 0.9389736261334278 1.0 1.0 8 Q9BX63,P49959 2 |
| Episodic vomiting 0.2570774146963892 0.0749758561980592 0.9402339217746212 1.0 1.0 15 P03886,P00403,P61978 3 |
| Increased circulating gonadotropin level 0.2655215678689251 0.074339974480161 0.9407398699765596 1.0 1.0 11 Q06787 1 |
| Delayed myelination 0.23195587461056 0.0731241526786137 0.9417073220474106 1.0 1.0 88 Q9Y584,Q53FT3,P00374,P49419,O95831,Q96CU9 6 |
| Spinal cord compression 0.2978490910295713 0.0730368776284737 0.941776771757422 1.0 1.0 7 Q93063 1 |
| Eeg with abnormally slow frequencies 0.248333066740317 0.072790041416884 0.9419731957331032 1.0 1.0 24 P49419,O75503 2 |
| Abnormal circulating amylase level 0.308030535459778 0.0708171778455764 0.9435432602053562 1.0 1.0 6 Q9Y697,Q5F1R6 2 |
| Perisylvian polymicrogyria 0.3249582321914057 0.070560798943643 0.9437473105220722 1.0 1.0 5 Q9BVA1,P42345 2 |
| Delayed menarche 0.3070652173912891 0.0695636280192028 0.94454098741556 1.0 1.0 6 Q9UNE7,Q9UJS0,O75844,O00429,P02545 5 |
| Focal non motor seizure 0.2699663423774455 0.0688575938152262 0.945102973594092 1.0 1.0 10 P67870 1 |
| Triangular shaped phalanges of the hand 0.2361349117968479 0.0672313030560321 0.9463975652580416 1.0 1.0 76 Q93074,Q6KC79,P18077,P21281,P62899,P46777,Q9BX63,Q15910,Q15427,P42766,Q08J23,Q9BXW9,Q8N3R9,Q9NS87,Q969E8,P61254,P62913,P62847 18 |
| Abnormality of temperature regulation 0.2265442578218634 0.0666631089955827 0.9468499037094156 1.0 1.0 118 Q8N1F7,P03886,Q9UHD2,O43772,P28070,P61978,Q8IYB7,Q9Y244,P14174,Q13586,Q9NR77,P23786 12 |
| Arthritis 0.2264461317560361 0.065985873647087 0.9473890721383292 1.0 1.0 48 P14174 1 |
| Prominent umbilicus 0.3236377388498375 0.0648463300040032 0.9482963530419276 1.0 1.0 3 O75844 1 |
| Autoimmune hemolytic anemia 0.2677191548848699 0.0647599037561676 0.948365166569626 1.0 1.0 10 Q13586 1 |
| Bilateral polymicrogyria 0.274258486811999 0.0647435527996471 0.9483781854241224 1.0 1.0 9 P67870 1 |
| Abnormality of skin adnexa physiology 0.2260810469106377 0.0642256744739953 0.9487905343199964 1.0 1.0 48 P07686,P61978,Q13586,P38935,P04066,Q9H0B6,Q03001 7 |
| Postaxial hand polydactyly 0.246089916917418 0.0618185532294164 0.9507073284042262 1.0 1.0 18 O15078,Q8NCM8,Q9UBM7,O00459,O43924 5 |
| Focal emotional seizure 0.271595940516575 0.0604156252274967 0.9518246142574572 1.0 1.0 9 P67870 1 |
| Thick corpus callosum 0.3237456446988177 0.0599867358445208 0.9521661989281164 1.0 1.0 4 O00459 1 |
| Fused cervical vertebrae 0.2883935852133779 0.0599070171706449 0.9522296910411204 1.0 1.0 7 Q9UHX1,P21333,O75369,Q9Y2W2,Q9NVI1,Q9Y5S9 6 |
| Abnormal heart sound 0.2878499592280559 0.0591988062489041 0.9527937604522332 1.0 1.0 7 P26196,P10644,O14521,Q3T906,Q01082,P01130 6 |
| Abnormal hypothalamus morphology 0.3128968708532428 0.0574719259318592 0.9541692689946116 1.0 1.0 5 O43924 1 |
| Shoulder dislocation 0.3136030409992029 0.0559706477775549 0.9553651901738388 1.0 1.0 3 P46821,Q6ZXV5 2 |
| Myelomeningocele 0.3136030409991981 0.0559706477775507 0.9553651901738422 1.0 1.0 3 O75845,Q96ST3 2 |
| Fibular aplasia 0.3136030409991974 0.0559706477775501 0.9553651901738428 1.0 1.0 3 O75369,Q9Y5S9 2 |
| Dystrophic fingernails 0.2619695321001228 0.0548020980179617 0.9562961289397368 1.0 1.0 10 P40763,P19447,P18074,P36507,O75844,Q9H4A3,P02545,Q12756,Q02750 9 |
| Abnormal intraocular pressure 0.2832556208613958 0.0534123007539871 0.9574034046194048 1.0 1.0 7 Q15043 1 |
| Abnormality of dental eruption 0.2330638151628585 0.0533648543554913 0.9574412074543476 1.0 1.0 66 A1X283,P31150,P51812,Q08J23 4 |
| Prostate neoplasm 0.2661650280210956 0.052045771984657 0.9584922220416848 1.0 1.0 9 P49959,Q9BX63,P42771 3 |
| Spoken word recognition deficit 0.3144342892603378 0.0517887287965226 0.9586970366176132 1.0 1.0 4 P49768 1 |
| Abnormality of skull ossification 0.2448751439831785 0.0512560743121098 0.9591214696868664 1.0 1.0 16 Q32P28 1 |
| Intestinal hypoplasia 0.3136882129277654 0.0511754438849937 0.9591857191396024 1.0 1.0 4 P02545,O75844,Q99567 3 |
| Bilateral external ear deformity 0.3131450298750765 0.050732920490333 0.95953834365929 1.0 1.0 4 O94905,P15924,Q08AM6 3 |
| Aplasia hypoplasia of the uvula 0.2679211324405274 0.0473545238803288 0.9622306730160606 1.0 1.0 8 O15360,Q01082,Q9BX63,Q9BXW9 4 |
| Synovitis 0.3068984247691537 0.0458810431114479 0.9634050636692024 1.0 1.0 4 P17706,O14802,Q02750 3 |
| Neuroinflammation 0.3047256925584005 0.0442936479886931 0.9646703348778748 1.0 1.0 4 P49327,P01889,Q9NZ08 3 |
| Pseudobulbar signs 0.2491409522305817 0.0437817921993023 0.9650783408859962 1.0 1.0 11 Q15233,O94905,Q14203 3 |
| Frontotemporal cerebral atrophy 0.297573522866168 0.0435572304134005 0.965257344503842 1.0 1.0 5 P49768 1 |
| Upper airway obstruction 0.2969301820157479 0.0430360560348116 0.9656727919080484 1.0 1.0 5 P02545,O75844,P16435,Q96HY6 4 |
| Peripheral axonal degeneration 0.2306927087024474 0.0429099082364909 0.9657733503962288 1.0 1.0 83 Q96MW5,P03886,Q8N9N2,Q92734,P41440,P22626,O95831,Q6DKK2,P17480,P00403,Q8IV08,Q9H0B6,O60524 13 |
| High forehead 0.2231620369947025 0.0400707003440619 0.96803676077164 1.0 1.0 116 Q93063,Q03164,A1X283,Q13586,Q8N3R9,P56377,P78318,O43683,P23786,P50542 10 |
| Gynecomastia 0.2394562007694161 0.0395111269375602 0.968482882431712 1.0 1.0 21 Q06787,P51608,Q8NI60,A1X283,Q01082,Q8IWS0,O00170 7 |
| Primary peritoneal carcinoma 0.2788425393867391 0.0390756531296664 0.9688300721281162 1.0 1.0 6 Q9BX63 1 |
| Abnormal shoulder physiology 0.296849538294415 0.0389560575918957 0.9689254229602812 1.0 1.0 4 Q3T906,O75844,P02545 3 |
| Short thumb 0.2219051951758296 0.0386424425472593 0.9691754632874814 1.0 1.0 45 Q6KC79,P18077,P21281,P62899,P46777,Q9BX63,Q969E8,P42766,Q9UBM7,P61254,P62847 11 |
| Aplasia hypoplasia involving the musculature of the upper limbs 0.2880803692642027 0.0384980235682842 0.9692906072814084 1.0 1.0 3 P21333,Q9Y5S9 2 |
| Abnormality of urine homeostasis 0.2299694009784884 0.0381202636570065 0.9695917949893024 1.0 1.0 218 P11310,P03886,O43772,Q8IYB7,P48735,P53985,Q8N1F7,P61457,P08237,P50542,Q99707,Q9UKG1,Q9H6K4,Q8NI22,P08236,O96000,P00403,P23786,P49247,Q6KC79,P04066,P16930,Q4J6C6,P36551 24 |
| Broad finger 0.2219948062860406 0.0369916255745096 0.9704916829954452 1.0 1.0 43 Q8N3R9,P51812,Q08J23 3 |
| Abnormality of nail color 0.2592142176307313 0.0368758216462329 0.970584018163166 1.0 1.0 8 O15446 1 |
| Leukonychia 0.2592142176307313 0.0368758216462329 0.970584018163166 1.0 1.0 8 O15446 1 |
| Limitation of movement at ankles 0.2882368921488696 0.0364648993250987 0.9709116663657272 1.0 1.0 5 O75844,P21333,Q05086,P02545 4 |
| Chronic oral candidiasis 0.2906029331884915 0.0351676517407364 0.9719460564388412 1.0 1.0 4 O00203,O75083,Q03426 3 |
| Deviation of the 2nd finger 0.2852232934918132 0.0343856002566002 0.9725696660128772 1.0 1.0 5 Q93074,Q9H6K4 2 |
| Anencephaly 0.2378269895770454 0.0342978636851669 0.9726396284012226 1.0 1.0 16 Q15427,O15078 2 |
| Dimple chin 0.2793918001629211 0.034034613986903 0.9728495487113996 1.0 1.0 3 Q2VPK5,Q15910 2 |
| Enlarged ovaries 0.2825319206737264 0.0326118222043741 0.9739841420902012 1.0 1.0 5 Q15437,P16435,P10644,O14521 4 |
| Aortic valve calcification 0.2757256852894094 0.0323514920702339 0.9741917459384102 1.0 1.0 3 O75844 1 |
| Bird like facies 0.2617559119325955 0.0308502833538481 0.975388939165917 1.0 1.0 7 Q13426,P19447,P18074,O75844,Q92878,P02545 6 |
| Arthropathy 0.2682065217391204 0.0304612501036663 0.9756991969672404 1.0 1.0 6 P40763,Q6DD88,Q9Y3Z3,O15270,O15269 5 |
| Abnormal fear anxiety related behavior 0.2251802385647266 0.0297778280652778 0.9762442415649144 1.0 1.0 127 Q6KC79,Q06787,P03886,O75503,P55795,Q9UHD2,Q9H9B1,Q03164,Q9BUK6,Q13045,Q6DKK2,Q8N3R9,Q15165,P00403,Q92804,P49768,P35637 17 |
| Intellectual disability severe 0.2265564105483279 0.0296530885185377 0.9763437253910878 1.0 1.0 155 Q08J23,O00217,Q9Y5P6,Q93063,P31150,P17480,Q96CU9,Q7RTS9,Q00534,P50542,Q8N183,Q7KZN9,P61978,P30084,P51812,P15311,P67870,Q9H9B1,P56377,P04066,O60524 21 |
| Metaphyseal sclerosis 0.2772106634940549 0.0293286362235627 0.9766024883178844 1.0 1.0 5 Q9H1A4,Q5F1R6 2 |
| Widow s peak 0.2794676806083754 0.0293208954853674 0.9766086618783572 1.0 1.0 4 O15344,P29372,P21281 3 |
| Limited hip movement 0.2344323381652184 0.0284217429233566 0.9773257828597544 1.0 1.0 19 O94905,Q93063,Q8TD16,O75844,Q96AY3,Q03001 6 |
| Oligomenorrhea 0.264018140395029 0.027459744983694 0.9780930465795958 1.0 1.0 6 O00170 1 |
| Attenuation of retinal blood vessels 0.2497157485400672 0.0269538671460117 0.9784965293329524 1.0 1.0 8 Q03426,Q96S66,P38435 3 |
| Parakeratosis 0.256860802389244 0.0266891783601938 0.9787076444768066 1.0 1.0 7 Q9Y244 1 |
| Broad columella 0.2691444694926374 0.0248474910005983 0.9801766103964722 1.0 1.0 4 P36543,Q13868 2 |
| Neuropathic arthropathy 0.2680608365019101 0.0244265747257602 0.9805123510811056 1.0 1.0 4 Q6DD88,O15269,O15270 3 |
| Corneal ulceration 0.2681336593316976 0.0243792369967758 0.9805501098798116 1.0 1.0 5 O75844,Q96EK5,P06132,P02545 4 |
| Abnormal prostate morphology 0.2404138271004258 0.0239745490739291 0.9808729097675616 1.0 1.0 10 P49959,Q9BX63,P42771 3 |
| Biconcave vertebral bodies 0.2529589970039545 0.0236127463842825 0.9811615048422786 1.0 1.0 7 Q96AY3 1 |
| Pulmonary cyst 0.2573369565217343 0.0231015124469238 0.9815692992510028 1.0 1.0 6 P15924,P54577,P10644,O95453,Q8NFG4 5 |
| Prominent metopic ridge 0.2356631177465898 0.0228660902812207 0.9817570893547612 1.0 1.0 14 Q00577,O75845,P61978,P46821,Q96GM5 5 |
| Low levels of vitamin d 0.2390340631666516 0.0189658621117577 0.9848683385971516 1.0 1.0 9 P62913,Q9Y3A5,Q5F1R6 3 |
| Aplasia hypoplasia of the ear 0.2247903455747879 0.0183722487878988 0.9853418909647398 1.0 1.0 62 P98175,P18077,P62899,Q8WTW3,P46777,P61978,P62847,Q9NS87,P42766,Q969E8,Q15427,P61254,P62913,O95155,Q15555,O15111 16 |
| Abnormal circulating hormone concentration 0.2241633274817088 0.0183484104719903 0.9853609079833534 1.0 1.0 94 Q9UER7,Q03164,P53985,O43395 4 |
| Heat intolerance 0.2479350042986654 0.017806543726534 0.9857931844495744 1.0 1.0 6 P61978,Q02750 2 |
| Abnormal platelet morphology 0.2468044833279024 0.0172319653185429 0.9862515613350816 1.0 1.0 6 O75845,Q86YV9 2 |
| Atrophy degeneration affecting the brainstem 0.2295844896335283 0.0165533432110245 0.9867929461761242 1.0 1.0 16 O15121,Q96MW5 2 |
| Poor wound healing 0.2424675842523967 0.0163388298950704 0.9869640798935272 1.0 1.0 7 Q6DD88,O15270,O00170 3 |
| Limb girdle muscle atrophy 0.2270880011290466 0.0157731615997758 0.987415359714273 1.0 1.0 17 Q8NF91,P50402,Q13642,Q8WXH0,O14979 5 |
| B lymphocytopenia 0.2401660655549457 0.0135754299333173 0.9891687067382876 1.0 1.0 5 P42224,P50851 2 |
| Arrhinencephaly 0.2274829931972701 0.013233271569077 0.9894416850881178 1.0 1.0 11 P21281,Q08AM6,Q92890,Q9Y3Z3,O00192,O75792,Q15427,P53992,P55265,Q92766 10 |
| Exercise intolerance 0.2153865272259284 0.0129041489270113 0.9897042645375622 1.0 1.0 39 P03886,Q9BQP7,P13807,Q8NI60,P08237,Q9H2D1,P00403,Q07021,P23786,Q9Y5P6 10 |
| Diastasis recti 0.2369565217391245 0.0127480227658039 0.9898288249449576 1.0 1.0 6 Q69YQ0,Q15910,Q3T906,Q9UHJ6,P42345 5 |
| Calcinosis 0.2363031837760614 0.0125279682679026 0.990004389010002 1.0 1.0 5 Q9H1A4,O75844 2 |
| Myoglobinuria 0.2254485686642151 0.0109012360967143 0.9913022442942304 1.0 1.0 11 P23786 1 |
| Abnormality of corneal size 0.2145228241433586 0.0094061119118664 0.9924951191941492 1.0 1.0 45 Q9NP72,O15347,Q96EK5,Q15056,Q9Y5P6,Q15042,Q13045,Q9UQE7,A1X283,Q9NWM8,Q9H9S5,P52732,Q6KC79,O75845,P36404,O15078,O96028,P18074,P49454,P07437,Q15555 21 |
| Small earlobe 0.2273592602665149 0.0088096594904297 0.9929709996270106 1.0 1.0 9 P98175,Q92794,Q92890,P10586,O00192,P53992,P52788,Q92766 8 |
| Congenital ichthyosiform erythroderma 0.2258152173913021 0.0087013094423094 0.9930574471439936 1.0 1.0 6 P26639,P19447,Q9Y244,P18074,Q15738 5 |
| Weak voice 0.2258152173912975 0.0087013094423077 0.9930574471439948 1.0 1.0 6 P54098,P41250,Q14203,O75787,P43243 5 |
| Diffuse alveolar hemorrhage 0.2188719468738139 0.006662077580437 0.9946844704758312 1.0 1.0 6 Q6UN15 1 |
| Pyridoxine responsive sideroblastic anemia 0.216861405658 0.0061338572378146 0.9951059207011048 1.0 1.0 6 Q9BX63,Q9BXW9 2 |
| Abnormality of femur morphology 0.2262751871504822 0.0054337991800897 0.9956644768629485 1.0 1.0 78 Q96MW5,Q93063,Q8WTW3,Q32P28,O95831,P04066,P51812,O00116,Q7RTS9,Q96AY3,P50542 11 |
| Cerebral visual impairment 0.2261398529472144 0.004908768753919 0.996083384927836 1.0 1.0 73 P03886,P37268,Q08J23,P00403,Q96CU9,P67870,O60524 7 |
| Proximal muscle weakness in lower limbs 0.2264949335733061 0.0044691453904086 0.9964341497632896 1.0 1.0 22 Q8NF91,Q16637,Q13642,P36551,P07196 5 |
| Severe combined immunodeficiency 0.2182658331068275 0.0044066079129025 0.9964840469596964 1.0 1.0 7 P00491,Q13426,P11586,O43909,O95394,P54819 6 |
| Combined immunodeficiency 0.2183251767264744 0.0040130258405347 0.9967980772338982 1.0 1.0 8 P00491,Q13426,P11586,O43909,O95394,P54819,O60566 7 |
| Ocular anterior segment dysgenesis 0.2186707765831913 0.0030652115511959 0.9975543188574484 1.0 1.0 108 P03886,P18077,O15078,Q9H9B1,Q9NSE4,Q8IYB7,Q9BX63,Q969E8,Q15800,P42766,A1X283,Q13586,P00403,P62847,O00400,P50542 16 |
| Keratoconjunctivitis 0.219532100108822 0.0030578089193658 0.997560225275415 1.0 1.0 10 P26639,Q9NSE4,P19447,P18074,P50747,P01889,P49327,P06132,Q9NZ08 9 |
| Abnormality of the carpal bones 0.22422873228411 0.0003290057451678 0.999737491400251 1.0 1.0 23 Q7RTS9 1 |
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