msigdb_hp/result.tsv

Term	es	nes	pval	sidak	fdr	geneset_size	leading_edge	leading_edge_size
Sensorimotor neuropathy	0.7011644443688417	3.4135399349508817	0.0006412475983947	0.9460606685633648	0.5952506234859537	32	Q5KU26,Q9NR77,P07602,Q9Y2R0,O95831,P41440,P03915,P07196,P39210,P00846,P00403	11
Peripheral axonal degeneration	0.511964226013609	3.305391886591691	0.0009484368666525	0.9866912457817713	0.5952506234859537	66	P50570,P07602,O95831,P41440,P02545,Q8IV08,P03915,P07196,P39210,Q15067,P00846,P00403,Q9BQT8,Q6DKK2,P22626,Q96BR5,Q9BPX6	17
Abnormality of head blood vessel	0.6704870186432117	3.095629254528723	0.0019639575434577	0.9998700973293304	0.5952506234859537	25	P07602,P16278,P06865,P21964,Q13510,P00846,P10619	7
Abnormal retinal artery morphology	0.6898564935273508	3.0320600263649613	0.0024289089770757	0.9999844249912736	0.5952506234859537	22	P07602,P16278,P06865,P21964,Q13510,P00846,P10619	7
Demyelinating peripheral neuropathy	0.7247221008696263	2.8839197059522457	0.0039275888259664	0.999999983395399	0.5952506234859537	17	Q9NR77,P41440,P07196,P00846,O15121	5
Peripheral demyelination	0.7120380636173513	2.7523296200627088	0.0059172928454409	0.9999999999981496	0.5952506234859537	16	Q9NR77,P07602,P50570,P17480,P03915,P07196,P00846,O43681	8
Bulbar signs	0.7528191481037483	2.732484203669105	0.0062858685614475	0.9999999999996578	0.5952506234859537	13	P07602,P04062,P35637,Q15043,P03915,P00846,Q99720,O43681	8
Contractures of the joints of the upper limbs	0.4559210786769711	2.6876449833315994	0.0071957856344124	0.9999999999999948	0.5952506234859537	66	Q9NR77,P16435,P37268,Q15392,P02545,P35637,P06753,P07196,Q99567,P23786,P41227,O75844,P50402,P42892,Q8IZA0,Q7LGA3,Q99720	17
Mental deterioration	0.4702303552589429	2.6006168595780452	0.0093056319101647	1.0	0.5952506234859537	89	P21964,P00846,P21912,P27544,P07602,P35637,Q14108,Q9Y487,P50897,Q13510,O75503,P00403,Q03164,P22626,P35670,P54802,P16278,Q96F07,P06865,P03915,O15118,P04062,O43681	23
Abnormal cardiac ventricular function	0.6853083247520628	2.596436185179686	0.0094196401408259	1.0	0.5952506234859537	16	P02545,P03915,P10253,O75844,P00403,P46100,Q15233	7
Increased cerebral lipofuscin	0.9669368697897994	2.578269362902193	0.00992965610095	1.0	0.5952506234859537	5	O75503,P07602,P50897	3
Abnormal peripheral myelination	0.5886807498231522	2.5752368407162973	0.0100171468000154	1.0	0.5952506234859537	30	Q9NR77,P07602,P50570,P02545,P17480,P03915,P07196,P39210,P00846,Q9H4A3,O43681	11
Abnormal csf protein level	0.7700008194174549	2.5735899127881483	0.0100649491182001	1.0	0.5952506234859537	11	Q9NR77,P07602,P03915,P00403,Q16625,O43681	6
Abnormal pupillary function	0.8713587905342671	2.5600120322838604	0.010466853929536	1.0	0.5952506234859537	7	Q9NR77	1
Cherry red spot of the macula	0.8245012992298918	2.549807662199735	0.0107782363526245	1.0	0.5952506234859537	9	P07602,P06865,P16278,P10619	4
Clumsiness	0.6335025607315944	2.517265055332655	0.0118269818677736	1.0	0.5952506234859537	20	Q9NR77,P07602,P35670,O75503,Q15067,Q13510,O14773,O43681	8
Peripheral axonal neuropathy	0.5096690258840334	2.5154143120382013	0.0118892574446607	1.0	0.5952506234859537	53	P50570,P07602,O95831,Q8IV08,P03915,P07196,P39210,Q15067,P00846,P00403,P22626,Q9BPX6	12
Abnormal pericardium morphology	0.7554319506766475	2.50002348601194	0.0124185073359737	1.0	0.5952506234859537	11	Q14108,P14174,O15460,P02545	4
Abnormality of hepatobiliary system physiology	0.4496331832563171	2.4927059715391633	0.0126773778230719	1.0	0.5952506234859537	77	O43772,P22830,P39210,Q96A33,P00846,P55263,P46100,O15460,Q8N511,O75381,Q13510,P22695,Q6NUQ1,Q16625,P56589,P35670,P03915,P23786,O15118,P04062	20
Hammertoe	0.6583842550761502	2.489619762376302	0.0127879826030907	1.0	0.5952506234859537	17	Q9NR77,P07196,Q99720	3
Progressive visual loss	0.5960069583657124	2.486902427632391	0.0128860735827081	1.0	0.5952506234859537	23	O75503,P03915,P50897,P00846,O14773	5
Impaired pain sensation	0.6385252324720613	2.4842752449099765	0.0129815425789252	1.0	0.5952506234859537	19	Q9NR77,O95831,P07196,P39210	4
Proximal muscle weakness	0.4441001071475623	2.48363977367781	0.0130047286821886	1.0	0.5952506234859537	65	P51114,Q8TD16,P02545,Q9BUK6,P00846,P21912,Q8NFF5,Q9BPX6,P35637,Q13510,P36551,Q9Y5P6,Q8NI60,P50570,Q13126,P06753,Q8NAT1,P22626,P35670,P10253,P07196,P50402,Q9BQT8,Q99720	24
Juvenile onset	0.5535241085626614	2.456945769081304	0.0140123837663526	1.0	0.5952506234859537	39	Q9NR77,P50570,P54802,P41440,P02545,P16278,O75027,P07196,P39210,Q14566,Q13510,Q03252,O15118,O14773	14
Abnormal muscle fiber morphology	0.435688250934983	2.443736561190453	0.0145360363980195	1.0	0.5952506234859537	67	P50570,O95831,P35637,P02545,P61978,P03915,P07196,P23786,P00846,O14979,O43676,Q8NI60,P00403,P22626,Q70HW3,Q99720,Q9BPX6	17
Talipes calcaneovalgus	0.9308765989621326	2.4362579117912393	0.0148400992491801	1.0	0.5952506234859537	5	Q9NR77,P07196	2
Episodic vomiting	0.71733845442835	2.416390798959299	0.0156752273270328	1.0	0.5952506234859537	12	P61978,P03915,P00403,P00846	4
Positive romberg sign	0.8367245444705601	2.4094602196377166	0.0159761376308908	1.0	0.5952506234859537	7	P07196,P41440,Q8IV08	3
Respiratory failure	0.4538575846230582	2.402973642553375	0.0162623595187583	1.0	0.5952506234859537	62	O43819,Q8TD16,Q16637,Q96CV9,P07602,P35637,P33991,P43243,Q13510,Q9Y5P6,Q15165,Q5XKP0,P50995,Q70HW3,Q92734,P06753,Q8NBU5,Q8N183,Q9BT22,Q96EY7,P53701,Q92804,P10253,P23786,O75306,P43897	26
Mixed demyelinating and axonal polyneuropathy	0.9201195828160412	2.3934328086573298	0.0166915382622925	1.0	0.5952506234859537	5	P35670,P07196,P00403	3
Postural tremor	0.6329136424460186	2.388616533771356	0.0169119439273019	1.0	0.5952506234859537	18	Q9NR77,P35637,Q14108,P03915,Q9H6K4,P00846,O14773,O75569	8
Toe walking	0.60312462826197	2.3854534869941686	0.0170580793212	1.0	0.5952506234859537	21	P07602,O95831,Q8TD16,P35637,P02545,P50402,Q99720,O43681	8
Dementia	0.5078297435661387	2.379314206079099	0.0173448843072578	1.0	0.5952506234859537	50	P35670,P07602,P35637,Q14108,Q9Y487,P06865,P03915,P00846,Q13510,P00403,O15118,P27544,P22626,P04062,O43681	15
Action tremor	0.4994528859232862	2.377242025620571	0.0174426391535156	1.0	0.5952506234859537	52	Q9NR77,P07602,Q99720,P41440,P35637,Q14108,Q9H6K4,O75027,P03915,P00846,Q5JRX3,O14773,Q15233	13
Abnormality of the phalanges of the toes	0.662394130054675	2.3660484100217674	0.0179790933214973	1.0	0.5952506234859537	14	P02545,O14936,O75431,O75844,Q9H4A3,P98172,Q7LGA3	7
Hemianopia	0.8023266893210397	2.3481441215250105	0.018867219333895	1.0	0.5952506234859537	8	P03915,Q9BVA1,P00403	3
Amyotrophic lateral sclerosis	0.6507634625981852	2.342438435141336	0.0191581944434973	1.0	0.5952506234859537	15	Q92804,P35637,Q15165,Q96CV9,P22626,Q99720	6
Abnormal oral physiology	0.4938839540579821	2.324272224441252	0.0201109084925248	1.0	0.5952506234859537	52	Q9NR77,Q96CV9,P35670,Q92804,P55795,P35637,Q9BVA1,Q92796,P51812,Q15165,P46100,P50995,O15460,Q03252,Q15233	15
Ulnar claw	0.902768294494498	2.323905867408476	0.0201305397307121	1.0	0.5952506234859537	5	Q9NR77,P07196	2
Young adult onset	0.7461513888223366	2.3090881319083216	0.0209386911998714	1.0	0.5952506234859537	10	O15118,P07602,Q14566	3
Myoclonus	0.4455288319911016	2.3054171718856957	0.0211432206894663	1.0	0.5952506234859537	90	P00846,P27544,P07602,Q14108,P50897,Q13510,Q96CU9,Q8NI60,Q03252,O75503,Q13813,Q01105,P00403,O14773,Q969G3,Q96F07,P03915,Q00577,Q9UBX3,P04062	20
Abnormality of salivation	0.532254905222543	2.3035861456311526	0.0212458862977584	1.0	0.5952506234859537	40	Q9NR77,Q96CV9,P35670,Q92804,P55795,P35637,Q9BVA1,Q92796,P51812,Q15165,P46100,Q03252,Q15233	13
Slowly progressive	0.4786523467817147	2.3012765055115008	0.0213760068828186	1.0	0.5952506234859537	55	Q9NR77,P50570,O95831,O00584,P41440,P02545,Q8IV08,P07196,O14979,P50402,O43707,O14773,Q99720	13
Segmental peripheral demyelination remyelination	0.8968668407310824	2.3001322169730622	0.0214407305518327	1.0	0.5952506234859537	5	Q9NR77,P03915,P07196,P00846	4
Lacticaciduria	0.8947092694189296	2.2914245615501456	0.021938870363763	1.0	0.5952506234859537	5	P03915,O96000,P00846	3
Hepatic failure	0.4971160545911011	2.279710309161094	0.0226248754753282	1.0	0.5952506234859537	50	P35670,O43772,O75381,P03915,P22830,P39210,P23786,P00846,Q13510,P56589,Q6NUQ1,P46100,O15118,O15460,P04062	15
Excessive salivation	0.5540467294628456	2.2789448072076515	0.022670346416119	1.0	0.5952506234859537	26	Q9NR77,P35670,P55795,Q9BVA1,Q92796,P51812,Q03252,P46100	8
Ectrodactyly	0.6472725891256955	2.277681087437341	0.0227455853498428	1.0	0.5952506234859537	14	Q9NR77,P07196,Q9H3P2,P48449,Q99720	5
Chronic fatigue	0.8906663771005446	2.2750849469241765	0.0229008344934327	1.0	0.5952506234859537	5	P07602	1
Psychomotor deterioration	0.7645691926196074	2.269096364612165	0.0232624664067506	1.0	0.5952506234859537	9	P07602,Q9Y487,P50897	3
Abnormal electroretinogram	0.5479169500275227	2.267219357661566	0.023376828875399	1.0	0.5952506234859537	30	O43924,P50897,P00846	3
Ventricular preexcitation	0.8018727951308328	2.255162725340923	0.0241231166501743	1.0	0.5952506234859537	7	P03915,P00403,P00846	3
Emg chronic denervation signs	0.6418641584946218	2.245861020756698	0.0247129112891362	1.0	0.5952506234859537	14	P07602,P22626,P39210,Q13510	4
Undetectable electroretinogram	0.9534137564807532	2.236183947812602	0.0253397242615966	1.0	0.5952506234859537	4	O43924,P50897	2
Emg neuropathic changes	0.5486298318270878	2.227662576485016	0.0259030243654665	1.0	0.5952506234859537	24	Q9NR77,P07602,P39210,Q13510,O14773,P22626	6
Basal ganglia cysts	0.7954267540848392	2.2263148420015786	0.0259931000172664	1.0	0.5952506234859537	7	P00846	1
Onion bulb formation	0.794833413298362	2.223654610934721	0.0261716912468892	1.0	0.5952506234859537	7	Q9NR77,P07196,P02545	3
Hyperconvex nail	0.793172353458106	2.216202926877132	0.0266776075262753	1.0	0.5952506234859537	7	P42892	1
Muscle abnormality related to mitochondrial dysfunction	0.532977399962865	2.215333371722088	0.0267371908832476	1.0	0.5952506234859537	35	Q9Y2R0,P03915,P00846,O43676,Q96CU9,O96000,P00403	7
Tinnitus	0.6282897791349995	2.2079031530760935	0.0272510250054738	1.0	0.5978406882203178	15	Q9NR77,Q969G3,O95831,Q15043,Q9NR28	5
Horizontal nystagmus	0.5458442534138905	2.207087946243116	0.0273079157301883	1.0	0.5978406882203178	24	P07602,O95831,Q9H061,P00846,Q9NSE4,O14773	6
Abnormality of the tongue	0.4335134348604185	2.206945713696054	0.0273178521858141	1.0	0.5978406882203178	86	P51114,P20700,P02545,Q16637,Q96A33,P21912,P98175,P07686,O43924,P46100,Q96CV9,Q9NQT5,O15460,Q7LGA3,Q10713,Q13428,P40855,O75381,Q13510,O75844,Q9Y5P6,Q03252,O95831,O75431,P04066,P56589,Q9H4A3,Q01082,Q969G3,P16278,O60826,P61978,P10253,P07196,Q9BQT8	35
Psychosis	0.5657048851838483	2.1985707410924307	0.0279084593422727	1.0	0.6020820233460917	22	P03915,P51812,P36551,Q5JRX3,P00403,O15118,P16219,Q6DKK2	8
Biliary tract abnormality	0.5547453891541086	2.193878491890824	0.0282441460112967	1.0	0.6047545022881401	23	P07602,P14174,P04062,P02545,O43681,Q14108,P09601,Q5XKP0,Q10713,O96028	10
Thin ribs	0.6543005662096424	2.189729459743488	0.0285438632253114	1.0	0.6047545022881401	13	P50570,O95831,Q32P28,P02545,O75844	5
Progeroid facial appearance	0.784863990120276	2.1788344408085383	0.0293439694220107	1.0	0.6071534036772414	7	O75844,P02545,Q03252	3
Hypocholesterolemia	0.764789264636458	2.175100604504594	0.0296225781826005	1.0	0.6101446872723868	8	P07602,Q15800	2
Pathologic fracture	0.6713578631479827	2.1681904309572206	0.0301442005778045	1.0	0.6120646698745579	12	P35670,Q14108,Q13126,P22626	4
Decreased number of peripheral myelinated nerve fibers	0.6206504895625731	2.1617143957851623	0.0306401973207641	1.0	0.6166669368563507	15	Q9NR77,P50570,P02545,P07196,P39210	5
Abnormal visual electrophysiology	0.5003657513840121	2.1519814844750833	0.0313988126858382	1.0	0.6166669368563507	45	P07602,O75503,P50897,P00846,O43924	5
Abnormal macrophage morphology	0.8598518981580348	2.1495609838602423	0.0315899573881646	1.0	0.6166669368563507	5	O15118,P16278	2
Abnormal circulating lipid concentration	0.4164152263845331	2.1483532411426403	0.0316857043507541	1.0	0.6166669368563507	73	P28070,P07602,P37268,Q8N511,Q15392,P02545,O43772,O75381,P22830,O75431,P23786,P56589,O75844,P50402,O43707,Q03252,P16219,Q15800	18
Diffuse white matter abnormalities	0.7390037877244854	2.1464657684008137	0.0318358370301499	1.0	0.6166669368563507	9	P16278,O14936,P09471,O75306,Q9Y5P6,Q3ZCQ8	6
Metatarsus adductus	0.6867594353306511	2.144408200086267	0.0320001937999989	1.0	0.6172240770237089	11	Q15392,Q08J23,Q03252	3
Abnormal full field electroretinogram	0.7759090914268127	2.13837851297478	0.0324860349531355	1.0	0.6180224355122981	7	P50897,P00846	2
Abnormal light and dark adapted electroretinogram	0.7759090914268127	2.13837851297478	0.0324860349531355	1.0	0.6180224355122981	7	P50897,P00846	2
Supranuclear gaze palsy	0.6162601662050058	2.1350649515262567	0.0327557050246052	1.0	0.6180224355122981	15	O15118,P07602,Q99720,P35637	4
Hypoparathyroidism	0.6225759277030436	2.131462530014543	0.0330510561824508	1.0	0.6180224355122981	14	P35670,P21964,Q08J23,P00403	4
Abnormal middle phalanx morphology of the hand	0.7743127992786547	2.131147352791892	0.0330770046713742	1.0	0.6180224355122981	7	Q9UHX1,P02545,Q03164	3
Impaired tactile sensation	0.7533377552281765	2.121615373058283	0.0338700503645539	1.0	0.6180224355122981	8	Q9NR77	1
Redundant neck skin	0.7718844056478897	2.1201354851400898	0.0339946211742281	1.0	0.6180224355122981	7	Q9Y487	1
Slow decrease in visual acuity	0.7325832561002826	2.1153964564680727	0.0343961715630989	1.0	0.6180224355122981	9	P03915,P00846	2
Abnormal larynx physiology	0.6401906937927329	2.109169287657022	0.0349299718843663	1.0	0.6192479306025711	13	Q92804,P35637,Q13510,Q15165,Q96CV9	5
Muscle stiffness	0.5521146834452259	2.1025504589484645	0.0355050844079691	1.0	0.6240935827069366	22	P07602,P53985,P00846	3
Gait ataxia	0.4087166139010106	2.1024975007747164	0.0355097183482198	1.0	0.6240935827069366	69	Q9NR77,P07602,P41440,Q8IV08,Q14108,P07196,P00846,O14773	8
Coarse hair	0.5954690090281475	2.0985977277878862	0.0358523768369993	1.0	0.6276277702867773	17	P51812,Q9Y487	2
Ragged red muscle fibers	0.6025055805935307	2.0950914589872505	0.0361628630488823	1.0	0.6276277702867773	16	O95831,Q70HW3,P00403,P00846	4
Infantile muscular hypotonia	0.405775353867279	2.090599143109875	0.0365640126371449	1.0	0.6276277702867773	67	P07602,Q969G3,P16278,Q15043,Q9Y487,Q9BVA1,O14936,P10253,P03915,P00846,Q13510,P46100,P16219	13
Hypersplenism	0.746351845285534	2.088828181018255	0.0367231926511109	1.0	0.6276277702867773	8	P07602	1
Pericardial effusion	0.8060832189148124	2.085904978569894	0.0369872312358026	1.0	0.6276277702867773	6	Q14108,P02545	2
Variable expressivity	0.4175088749537022	2.082652789019187	0.0372828836963758	1.0	0.6276277702867773	80	Q9NR77,Q8TD16,Q13885,P02545,P41227,O43707,Q9NQT5,P07602,Q9H061,Q13868,Q9BVA1,Q13510,Q9Y5P6,Q8NI60,Q70HW3,P06753,Q13813,P00374,P00403,O15121,P03915,P07196,Q00577	23
Hypothermia	0.7010159382548288	2.082649421400435	0.0372831908819393	1.0	0.6276277702867773	10	P03915,P20700,P00846,O43772	4
Polyneuropathy	0.57654253640016	2.0817494465588866	0.0373653615438744	1.0	0.6276277702867773	19	P35670,P07602,O95831,P00846	4
Osteolysis involving bones of the feet	0.8397487192387263	2.0667387728207354	0.038758775569011	1.0	0.6313086510840292	5	O75844,O75431,P02545	3
Foot acroosteolysis	0.8397487192387263	2.0667387728207354	0.038758775569011	1.0	0.6313086510840292	5	O75844,O75431,P02545	3
Periventricular white matter hyperintensities	0.7411823819870007	2.064488934201389	0.038971382019906	1.0	0.6313086510840292	8	O75503,P07602	2
Retinal dysplasia	0.7213999638341483	2.06102061451654	0.0393010734524763	1.0	0.6343917955874907	9	P53701,O43505,Q8NAT1,O43924,P07437	5
Fasciculations	0.5132657459621789	2.0555142826221955	0.0398293575770358	1.0	0.6355198256482228	35	O43819,P07602,P51114,O95831,Q8TD16,P35637,Q8NBU5,P06280,P07196,Q16637,Q13510,P07686,Q9BQT8,Q96CV9,Q9NQT5,P22626	16
Microcytic anemia	0.6955934336978269	2.055054114594221	0.0398737781984672	1.0	0.6355198256482228	10	O75027,P22830,Q9BQT8,P46100	4
Mitochondrial inheritance	0.9064725026916952	2.0538348729792792	0.0399916764615322	1.0	0.6355198256482228	4	P00403,P00846	2
Foam cells	0.9064554211121872	2.053767910420187	0.0399981601672267	1.0	0.6355198256482228	4	O15118,P16278	2
Progressive psychomotor deterioration	0.7371475688216147	2.0454464282327103	0.0408108656418002	1.0	0.6361394236711885	8	P07602,P16278,P21912,Q10713,O43681	5
Fatigable weakness of bulbar muscles	0.6067418714079799	2.036485808384428	0.0417015967298146	1.0	0.6361394236711885	14	Q92804,P35637,P06753,P43243,Q15165,Q9Y5P6,Q96CV9,P50995,Q14203	9
High frequency sensorineural hearing impairment	0.9014681892332737	2.0341986350522188	0.0419315721268849	1.0	0.6361394236711885	4	Q9NWM8,P02545,Q13510	3
Fluctuations in consciousness	0.7499642229912458	2.020120743766392	0.0433708646553918	1.0	0.6361394236711885	7	P03915,P00403,P04062,O75306	4
Erythema	0.5749977420233858	2.017390450681383	0.0436547830237485	1.0	0.6361394236711885	18	P53701,Q07954,P03915,P22830,P00403	5
Abnormality of corneal stroma	0.6627671008301951	2.016710297145078	0.0437257547206531	1.0	0.6361394236711885	11	P10619,P16278,O43505,Q13510,Q16625,P04062	6
Mania	0.6436570563566514	2.0152737399063176	0.0438759748466599	1.0	0.6361394236711885	12	P51812,P21964,P00403	3
Intellectual disability progressive	0.6428289562363481	2.010663580115466	0.0443610033864922	1.0	0.6361394236711885	12	P53701,O95831,Q9H9P8,P46100	4
Vitiligo	0.7472737814930215	2.007769311380902	0.0446678113747536	1.0	0.6361394236711885	7	P00403	1
Aganglionic megacolon	0.5881855220400115	2.005546254545828	0.0449046810323985	1.0	0.6361394236711885	16	Q96EK5,P21964,P41227,P42892,P46100	5
Abnormal biliary tract morphology	0.5475001775877117	2.0036777420268055	0.045104592059598	1.0	0.6361394236711885	21	P07602,P14174,P04062,P02545,Q14108,P09601,Q5XKP0,Q10713,O43681	9
Central scotoma	0.659772222856387	2.000646009446661	0.0454305515969066	1.0	0.6361394236711885	11	P03915,Q9H061,P00846	3
Loss of subcutaneous adipose tissue in limbs	0.8923327895595429	1.99825739264532	0.0456887621994306	1.0	0.6361394236711885	4	O75844,P02545,Q03252	3
Abnormality of the distal phalanges of the toes	0.8923327895595389	1.998257392645304	0.0456887621994324	1.0	0.6361394236711885	4	O75844,Q7LGA3,P02545	3
Widely patent fontanelles and sutures	0.8919168498189096	1.9966180624519956	0.045866689183291	1.0	0.6361394236711885	4	P98175,P02545	2
Increased bone mineral density	0.5173244576074565	1.9939341864908144	0.0461592473239798	1.0	0.6361394236711885	24	Q13126,P54802,P02545,Q15043,Q14108,Q15392	6
Nasogastric tube feeding in infancy	0.744094448675938	1.9931522450403816	0.0462447785317698	1.0	0.6361394236711885	7	P61978,P07602,Q9UHX1	3
Mitochondrial myopathy	0.51318829451163	1.9886970675380151	0.0467346498728868	1.0	0.6361394236711885	29	P00846,O43676,Q96CU9,O96000,P00403	5
Abnormality of facial adipose tissue	0.889684635786078	1.9878160119509083	0.0468320421997949	1.0	0.6361394236711885	4	O75844,P02545	2
Abnormality of the alveolar ridges	0.7420525721796596	1.9837525828873248	0.0472834285059025	1.0	0.6361394236711885	7	Q15392,O43924	2
Abnormality of glycolipid metabolism	0.741920387536754	1.9831437533643992	0.0473513745332037	1.0	0.6361394236711885	7	P07602,P06865,P06280,O43681	4
Ankylosis	0.8176628312465942	1.974916043862112	0.0482776763783467	1.0	0.6361394236711885	5	O75844,P02545	2
Upper limb muscle weakness	0.5139883356516665	1.971984745510268	0.0486113479466847	1.0	0.6361394236711885	25	P50570,Q969G3,P02545,P07196,P00846,P50402,P36551,Q9Y5P6	8
Hypoplastic vertebral bodies	0.7797337998073506	1.9714069177610876	0.0486773504238244	1.0	0.6361394236711885	6	Q8TAA9,Q6NUQ1,P16278	3
Babinski sign	0.4150306073823445	1.965396754290108	0.0493683348647933	1.0	0.6361394236711885	88	Q9NR77,P07602,O95831,P41440,P35637,Q15043,O75027,Q92796,P07196,Q15067,Q9H6K4,P00846,P51812,O15121,O14773,Q6DKK2,Q99720,O43681	18
Increased connective tissue	0.736900282698953	1.9599924647441365	0.0499966710378816	1.0	0.6361394236711885	7	O95831,P07196,P02545	3
Deep palmar crease	0.6329809983204053	1.9556679944020023	0.0505042773640365	1.0	0.6361394236711885	12	P61978,Q9Y487,P98175	3
Skin nodule	0.5571953750714116	1.9525410535763512	0.0508740018086537	1.0	0.6361394236711885	19	P34913,P35637,P06280,Q13510,P16615,P21912,Q9NSE4,P48735	8
Areflexia of lower limbs	0.5482271856134986	1.9479386834646324	0.051422300415022	1.0	0.6361394236711885	20	Q9NR77,P50570,Q13217,Q9H6K4,P07196,Q15067,Q16637,Q13586,O75477	9
Hyperintensity of cerebral white matter on mri	0.5482265720739665	1.9479344647604944	0.0514228052660958	1.0	0.6361394236711885	20	P07602,P20700,Q15043,P17480,O75503,P10253,P21912,O43681	8
Bilateral sensorineural hearing impairment	0.5101469495761856	1.94672643049891	0.0515675411543647	1.0	0.6361394236711885	26	P07602,P35637,P03915,Q15067,P38159,Q9NSE4,P00403,O43681	8
Sclerocornea	0.7155952765896557	1.9430592061424097	0.0520090051726787	1.0	0.6371103319388072	8	P53701,O75569,Q9H3P2	3
Postural instability	0.5628669855934688	1.9377905754033549	0.0526487780621929	1.0	0.6371103319388072	18	Q9NR77,P41440	2
Cardiac valve calcification	0.8763458401305041	1.935069087239218	0.0529818183206596	1.0	0.6371103319388072	4	O75844,O75431,P02545	3
Mitral valve calcification	0.8763458401305041	1.935069087239218	0.0529818183206596	1.0	0.6371103319388072	4	O75844,O75431,P02545	3
Abnormal retinal vascular morphology	0.4640606436035016	1.9344668976286552	0.0530557482290154	1.0	0.6371103319388072	49	P07602,P16278,P06865,P21964,Q13510,P00846,P10619	7
Retinal telangiectasia	0.7698470727603896	1.9280901321010064	0.053843916176681	1.0	0.6371103319388072	6	P00846	1
Severe short stature	0.5443540976588276	1.921273381366664	0.0546972511379626	1.0	0.6371103319388072	20	P53701,Q15392,P16278,P10619	4
Abnormality of lipoprotein cholesterol concentration	0.5875259124185985	1.919954648287567	0.0548636281735099	1.0	0.6371103319388072	14	P37268,Q15800,Q8N511,P02545	4
Abnormal circulating citrulline concentration	0.8044800480504031	1.919702079730764	0.0548955414114074	1.0	0.6371103319388072	5	P00846	1
Left ventricular systolic dysfunction	0.8040909807872362	1.9180680047428436	0.0551023887879047	1.0	0.6371103319388072	5	P02545	1
Hypoplasia of the musculature	0.8030391201975253	1.913648921790334	0.0556650296202723	1.0	0.6371103319388072	5	Q9NR77	1
Atrophy degeneration involving the spinal cord	0.7664892461960142	1.9133351138723889	0.0557051652266356	1.0	0.6371103319388072	6	P07196,Q13217	2
Aspiration pneumonia	0.5055715262942215	1.9114799860008236	0.0559429263808368	1.0	0.6381941886325201	26	Q92734,P78318,Q969G3,P20700,O95721,P16278,P06753,Q13510,O60220,O14497,Q00577,Q92785,Q96EY7,P04062	14
Scotoma	0.5859620680043112	1.9104108657333363	0.0560803329202566	1.0	0.6381941886325201	14	Q9H061,P03915,Q9H6K4,P04439,P00846	5
Abnormal motor nerve conduction velocity	0.5425543910917975	1.9088598406486896	0.0562801748410182	1.0	0.6388712116616332	20	Q9NR77,P07196,Q99720,O15121	4
Abnormal astrocyte morphology	0.584770600576899	1.9031336164946064	0.0570231124811388	1.0	0.6432499256961803	14	O95831,P48735,P00846	3
Decerebrate rigidity	0.8676076293801503	1.9003781026608977	0.0573835184236237	1.0	0.6432499256961803	4	P07602,P16278	2
Abnormality of pain sensation	0.50443109403437	1.8989109201126095	0.0575761893046056	1.0	0.6432499256961803	25	Q9NR77,O95831,P07196,P39210	4
Focal segmental glomerulosclerosis	0.5408992806259059	1.897430859312719	0.0577710960018897	1.0	0.6432499256961803	20	Q8N1F7,Q14C86,Q14108,P03915,Q8NFH4,O75431,P00403	7
Abnormal ldl cholesterol concentration	0.6031939843579261	1.8946119089551936	0.0581438358965291	1.0	0.6432499256961803	13	P37268,Q15800,Q8N511,P02545	4
Abnormality of the tonsils	0.7227539922979165	1.894450435065338	0.0581652473915041	1.0	0.6432499256961803	7	P21964	1
Metaphyseal striations	0.7983134063145867	1.893772100412523	0.0582552663865447	1.0	0.6432499256961803	5	P00813	1
Hypoglycemic seizures	0.760349179148984	1.8862980743853517	0.059254798627911	1.0	0.6468293605617532	6	P53985	1
Osteoarthritis	0.6196417559520873	1.880679578334586	0.0600155192865818	1.0	0.6504554581471527	12	P35670,P02545,Q14108,O75844,Q96HY6	5
Motor neuron atrophy	0.5296294999840118	1.87783621460075	0.0604035744188706	1.0	0.6504554581471527	21	Q92804,P35637,Q13510,Q15165,Q96CV9,P22626,Q99720	7
Decreased activity of mitochondrial complex iv	0.574281737560952	1.876457990556844	0.0605924180358905	1.0	0.6504554581471527	15	Q9Y2R0,Q70HW3	2
Abnormal visual field test	0.7936737440051469	1.874220677656982	0.0609000152527741	1.0	0.6504554581471527	5	P00846	1
Left ventricular hypertrophy	0.5290574392264857	1.873783237090122	0.0609603077606584	1.0	0.6504554581471527	21	P10253,P06280,P03915,O75431,P21912,P00403,Q15233	7
Abnormal tissue metabolite concentration	0.5735555267110289	1.871925012482765	0.0612169786095591	1.0	0.6504554581471527	15	P40855,P07602,O75381,P06865,P56589,O43681	6
Elevated pulmonary artery pressure	0.5286809841181125	1.871115280003796	0.0613291041126298	1.0	0.6504554581471527	21	P02545,P25705,Q14108,P03915,O75844,O96000,P00403,Q8IZA0	8
Limb ataxia	0.5001409882347142	1.8694994152773616	0.0615533649122213	1.0	0.6504554581471527	26	Q9NR77,P41440,Q8IV08,Q14108,O14773	5
Optic neuropathy	0.5006868232433702	1.8675252540211185	0.0618282735417781	1.0	0.6504554581471527	24	O43676,Q96CU9,O96000,P00846	4
Unusual infection by anatomical site	0.572635593217267	1.866180017331037	0.0620161838391617	1.0	0.6504554581471527	15	Q14739,P02786,Q9H9P8,P46100,Q8TAA9,O15460	6
Progressive gait ataxia	0.6586556934428554	1.8648864441330888	0.0621973229477623	1.0	0.650855664501642	10	P07602,P00846	2
Neck muscle weakness	0.5974994603368591	1.8611696614726372	0.0627202212548554	1.0	0.6541764583938929	13	P07602,P35637,P02545,P06753,Q99720	5
Sensory axonal neuropathy	0.6160850285535319	1.860590059341665	0.0628020897008196	1.0	0.6541764583938929	12	O95831,Q15067,Q8IV08	3
Distal muscle weakness	0.4050551146633662	1.857387091505989	0.0632561016615735	1.0	0.6559620692645652	62	Q9NR77,P50570,O95831,Q8TD16,P41440,P02545,P35637,P07196,P39210,P00846,Q9BQT8,P22626,Q96BR5,Q99720	14
Impaired proprioception	0.48526137980808	1.8522622369063857	0.0639881755748372	1.0	0.6559620692645652	37	Q9NR77,P54802,P41440,Q8IV08,P00846,O14773	6
Abnormality of pulmonary circulation	0.49865514340849	1.8519883765292189	0.0640274920239261	1.0	0.6559620692645652	24	P02545,P25705,Q14108,P03915,O75844,O96000,P00403,Q8IZA0	8
Episodic tachypnea	0.7133465436879607	1.8506197482421405	0.0642242766255996	1.0	0.6559620692645652	7	P22695,O43924	2
Distal lower limb amyotrophy	0.5954582839201005	1.849156049837339	0.0644352829084786	1.0	0.6559620692645652	13	Q9NR77,P07196,Q8TD16,P02545	4
Hypopigmented skin patches	0.5167909870423146	1.848621053023332	0.0645125505323234	1.0	0.6559620692645652	22	P07602,P21964,P53701	3
Joint contracture of the hand	0.4693584372211377	1.847483707611823	0.0646770672540637	1.0	0.6559620692645652	44	Q9NR77,Q15392,P02545,Q8IZA0,P06753,P07196,Q99567,P41227,O75844,P42892,P98172,P16435	12
Deep plantar creases	0.7863536136819187	1.8433010928127491	0.0652850616868665	1.0	0.6560211938159304	5	Q9Y487	1
Abdominal pain	0.3953046198796476	1.8373724379819265	0.066154932806953	1.0	0.6562655373765833	78	P14174,Q14C86,O14936,P21912,O43707,P42892,P46100,O15460,P35637,Q14108,P36551,Q70HW3,P50336,P57740,Q8NFH4,Q13423,Q01082,Q8N1F7,Q6UN15,P06280,P23786,Q14566,Q01844,P04062	24
Abnormal circulating non proteinogenic amino acid concentration	0.7073531284728767	1.822595463487775	0.068364683232017	1.0	0.6562655373765833	7	P00846	1
Fatigable weakness of swallowing muscles	0.6091392151077574	1.8212446541352996	0.0685696753819693	1.0	0.6562655373765833	12	Q15165,Q92804,P35637,Q96CV9	4
Retinal arteriolar tortuosity	0.6264164133542071	1.8199077009265745	0.0687730619796316	1.0	0.6562655373765833	11	P21964	1
Premature rupture of membranes	0.7451070783404397	1.8188718436531053	0.0689309843878676	1.0	0.6562655373765833	6	Q9Y487,P02545	2
Paresthesia	0.5032657529610062	1.8155560471067933	0.0694385010791547	1.0	0.6562655373765833	23	Q9NR77,P07196,O15460,P54802	4
Psychotic mentation	0.8463222384358121	1.8154371340189377	0.0694567587915115	1.0	0.6562655373765833	4	P00403	1
Tremor by anatomical site	0.4935119706033148	1.8148285620641	0.0695502596118295	1.0	0.6562655373765833	25	Q9NR77,P07196,Q99720	3
Subcutaneous nodule	0.5579044336739514	1.8135270071452112	0.0697505770325759	1.0	0.6562655373765833	16	P35637,Q13510,P21912,Q9NSE4,P48735	5
Aplasia hypoplasia involving the skeletal musculature	0.6244206450859625	1.8089900329037665	0.0704525518230909	1.0	0.6562655373765833	11	Q9NR77,Q9Y487,Q8NAT1,P06753	4
Respiratory arrest	0.7426895497332673	1.8081376056279852	0.0705850865989692	1.0	0.6562655373765833	6	O43772	1
Abnormal tongue physiology	0.550270993846416	1.8074636467745864	0.0706900179355491	1.0	0.6562655373765833	17	O95831,P10253,Q13510,Q9BQT8,Q96CV9,Q9H4A3,Q9NQT5	7
Symptomatic seizures	0.7040825811803861	1.8072704587621191	0.0707201197271543	1.0	0.6562655373765833	7	P53985	1
Oromandibular dystonia	0.8439842086225658	1.8060703905847713	0.0709073451611428	1.0	0.6562655373765833	4	P35637,Q99720	2
Fatigable weakness of respiratory muscles	0.5881268712208627	1.8058926542184823	0.0709351087493324	1.0	0.6562655373765833	13	Q15165,Q92804,P35637,Q96CV9	4
Abnormal tongue morphology	0.3807563647404317	1.798802767823701	0.0720498853625943	1.0	0.6562655373765833	66	P20700,P02545,Q96A33,P21912,P98175,P07686,O43924,P46100,Q9NQT5,O15460,Q7LGA3,Q10713,Q13428,O75844,Q9Y5P6,Q03252,O75431,P04066,Q01082,P16278,O60826,P61978,P10253,P07196	24
Capillary hemangioma	0.7399621092601956	1.796014419453254	0.0724922237897307	1.0	0.6562655373765833	6	Q7LGA3,Q9UHX1	2
Distal lower limb muscle weakness	0.5339263183723555	1.7949842299432892	0.0726562125495444	1.0	0.6562655373765833	19	Q9NR77,P07196,P00846	3
Abnormal circulating cholesterol concentration	0.4885913195059858	1.7944166862284223	0.0727466855607066	1.0	0.6562655373765833	29	P07602,P34913,P37268,Q8N511,P02545,Q15904,O75431,P57740,P50402,Q15392,Q15800	11
Xerostomia	0.5666293352307019	1.7917000735369883	0.0731810227650004	1.0	0.6562655373765833	14	Q92804,Q14739,P35637,P43243,Q15165,Q96CV9,P50995,Q14203	8
Neoplasm of the tongue	0.700694158248818	1.791369198970742	0.0732340682541143	1.0	0.6562655373765833	7	O43924	1
Aplasia hypoplasia involving the nose	0.4901612547483124	1.786802583602755	0.073969401642699	1.0	0.6562655373765833	24	Q5KU26,P55795,P02545,P61978,O75431,O75844,Q08J23	7
Abnormal metabolic brain imaging by mrs	0.5523319593088927	1.7778099459497283	0.0754350744257792	1.0	0.6562655373765833	16	O43819,P07602,P03915,O75306,P21912,P00403	6
Dystrophic toenail	0.7352114727624534	1.7748660028379273	0.0759200149642282	1.0	0.6562655373765833	6	O75844,Q969G3,P02545	3
Joint swelling	0.6962112631586771	1.7702947180957085	0.076678057511361	1.0	0.6562655373765833	7	P35670,Q13510	2
Abnormal iliac wing morphology	0.6404145296466891	1.769605598624277	0.0767928655566452	1.0	0.6562655373765833	10	P51812,O95831	2
Global brain atrophy	0.5292385411215318	1.7629692437290465	0.0779056771294803	1.0	0.6562655373765833	19	P07602,Q9H9P8,P35637	3
Delayed cranial suture closure	0.485268420284379	1.7622028802464542	0.0780350256490609	1.0	0.6562655373765833	28	P40855,Q32P28,P02545,O75381,Q9Y487,O75431,O75844,P51812,Q08J23,P16435	10
Arthritis	0.4686644226645819	1.7587590324670337	0.0786184458900538	1.0	0.6562655373765833	40	P28070,P35670,P14174,P02545,Q14108,P21964,Q13510,O75844,P10321,Q96HY6,O15460	11
Proximal muscle weakness in upper limbs	0.5610303451137647	1.7570746691064292	0.0789050827193085	1.0	0.6562655373765833	14	P50570,P02545,P07196,P50402,P36551,Q9Y5P6	6
Abnormal exteroceptive sensation	0.4454658745618562	1.7562021590404708	0.0790538961897617	1.0	0.6562655373765833	49	Q9NR77,P07602,O95831,P54802,P61978,P17480,Q9H6K4,P07196,P39210,Q9H4A3,O15460	11
Toxemia of pregnancy	0.7304948305305641	1.753828743469224	0.0794598562920099	1.0	0.6562655373765833	6	P49366,Q01082,P02545,O43772	4
Submucous cleft of soft and hard palate	0.4950152931053748	1.7536736957324337	0.0794864352547408	1.0	0.6562655373765833	23	P02545,O75844,Q8NAT1,Q15392,Q08J23,Q7LGA3	6
Autoamputation of digits	0.8308176420251692	1.7531917255663525	0.079569102854768	1.0	0.6562655373765833	4	P39210	1
Acral ulceration	0.8308176420251692	1.7531917255663525	0.079569102854768	1.0	0.6562655373765833	4	P39210	1
Cachexia	0.5350414454788314	1.752904814962377	0.0796183469870166	1.0	0.6562655373765833	18	P07602,P35637,P02545,Q01844,Q99720	5
Foot dorsiflexor weakness	0.4814167489680816	1.751203451489424	0.079910871159901	1.0	0.6562655373765833	31	Q9NR77,P02545,P07196,P39210,Q9BQT8,Q96BR5,Q99720	7
Disproportionate short stature	0.5115429624407937	1.7489809995799122	0.0802943038160375	1.0	0.6562655373765833	21	Q32P28,P16278,Q96HY6,Q15392,Q7LGA3,Q9UHX1	6
Bilateral cryptorchidism	0.6355293836455689	1.7439410817870906	0.081169364103381	1.0	0.6562655373765833	10	P37268,P48449,O43924,Q15233	4
Abnormality of the larynx	0.4622471798123029	1.739812647193106	0.0818919210007527	1.0	0.6562655373765833	42	P07602,Q92804,P02545,P35637,P21964,Q13510,Q15165,Q96HY6,Q96CV9,P50995,Q9UHX1	11
Airway obstruction	0.5460631840005494	1.7374944227083955	0.0822999376197386	1.0	0.6562655373765833	16	P02545,P09601,P21964,O75844,Q96HY6,P16435	6
Loss of speech	0.5395068619945271	1.736937446370194	0.0823982128318909	1.0	0.6562655373765833	17	P07602,P50897	2
Skin pit	0.656061213530966	1.7369083188330654	0.0824033548319338	1.0	0.6562655373765833	9	P61978,Q07954,P16615	3
Impaired vibration sensation in the lower limbs	0.5573371898788064	1.7341769442830115	0.0828866924537818	1.0	0.6562655373765833	14	Q9NR77	1
Adrenal insufficiency	0.4825960082557741	1.7328129212061458	0.0831289254890941	1.0	0.6562655373765833	26	P40855,Q969G3,P33991,O75381,P56589,Q9NSE4,Q13423	7
Retinal vascular tortuosity	0.5509393274154407	1.7297970328060688	0.0836665447781224	1.0	0.6562655373765833	15	P21964,P00846	2
Abnormal lower motor neuron morphology	0.6713844203320953	1.729603452328951	0.0837011488207546	1.0	0.6562655373765833	8	Q99720,P35637	2
Preaxial polydactyly	0.6326266964273055	1.7286627899545437	0.0838694646795601	1.0	0.6562655373765833	10	O43924,Q9UHX1,Q9H3P2	3
Clonic seizure	0.6871545286224511	1.7275914045269156	0.0840615049308832	1.0	0.6562655373765833	7	P07602,P09471,O14936	3
Status epilepticus	0.4509755413676116	1.7268054794051575	0.084202604103126	1.0	0.6562655373765833	46	P07602,P53701,Q9Y487,Q13510,Q01105,P42892,Q03252,Q15392	8
Adipose tissue loss	0.6538107262472244	1.7255574068715285	0.0844270676357221	1.0	0.6562655373765833	9	O75844,P02545,Q03252	3
Abnormal cranial nerve physiology	0.3785533643847364	1.7244409699222467	0.0846282667926305	1.0	0.6562655373765833	70	Q9NR77,P07602,P40855,P50570,Q969G3,P02545,Q15043,O75381,Q92796,P07196,Q13510,P56589,P51812,P21912,P16219,P48735,Q9UHX1	17
Aplasia hypoplasia of the lungs	0.4799023931952241	1.719588437807697	0.0855072793544335	1.0	0.6600914040433367	28	Q7Z4L5,P02545,P25705,Q99567,P41227,O96000,P98175,O75844,Q9H3P2,Q8TAA9,O96028	11
Visual loss	0.4384487616137849	1.7179998704503854	0.0857966389056266	1.0	0.6600914040433367	50	P07602,O75503,P50897,P00846,P00403,O14773	6
Thoracic scoliosis	0.573110164716383	1.7167370025571516	0.0860272360266012	1.0	0.6600914040433367	13	P02545,O00459,O75844,Q9NSE4,Q9UHX1	5
Myoclonic spasms	0.7221676300166299	1.7165916747845114	0.0860538046810179	1.0	0.6600914040433367	6	Q969G3,Q6PJG6,Q10713,P00846	4
Hyperconvex fingernails	0.7553766096877973	1.7115081415150062	0.0869873495382513	1.0	0.6616397823745752	5	P51812,O96028	2
Splenomegaly	0.3966820240408382	1.7106436749635985	0.087146911279313	1.0	0.6616397823745752	91	P14174,P02545,P21964,O14936,P00813,Q96HY6,P46100,P07602,P33991,Q14108,Q13510,Q6NUQ1,Q16625,Q15392,P28070,P35670,P54802,P16278,P10253,O15118,P04062	21
Abnormal neuron morphology	0.4791298081026086	1.7056253448410623	0.0880778574158653	1.0	0.6659973537492014	26	Q92804,P35637,Q13510,Q15165,Q96CV9,P22626,Q99720	7
Narrow nasal ridge	0.7189548389533688	1.7021927708028228	0.0887192375090564	1.0	0.6678893938392705	6	O75844,P02545	2
Chorioretinal dysplasia	0.7528473313008699	1.700682352011679	0.0890026507863801	1.0	0.6678893938392705	5	P53701,Q8NAT1	2
Intestinal pseudo obstruction	0.681378947409999	1.700272150263901	0.089079746395325	1.0	0.6678893938392705	7	P61978,P00403	2
Abnormal delivery	0.5042486630868833	1.6966095031027186	0.0897705119713552	1.0	0.6702484033632932	21	P50570,P33991,P02545,P06753,Q9Y487,O75844,Q96EY7,Q01082	8
Abnormal ureter morphology	0.5120564150622691	1.6963585535322523	0.089817997814501	1.0	0.6702484033632932	20	P02545,O14936,P09471,P23786,P41227,O75844,Q8TAA9,Q7LGA3,Q16531	9
Incoordination	0.3728601678885295	1.68961785713374	0.0911010873786488	1.0	0.6773643568412395	67	Q9UGU0,Q9NR77,P07602,P35670,O75503,Q15067,P00846,Q13510,Q01105,O14773,Q6DKK2,P04062,O43681	13
Redundant skin	0.4863135482102593	1.6880601549678491	0.0913996821230669	1.0	0.6773643568412395	23	P51812,Q9Y487	2
Abnormal auditory evoked potentials	0.6626418420145057	1.686874517587535	0.0916274829162007	1.0	0.6773643568412395	8	P07602	1
Multiple lipomas	0.6624903202575844	1.6861325285325912	0.0917702759285135	1.0	0.6773643568412395	8	Q9BUK6,P03915,P29992,Q8TAA9,P53680	5
Phenotypic variability	0.4049894901946337	1.6859348459670087	0.0918083493482191	1.0	0.6773643568412395	103	Q9NR77,Q8TD16,Q13885,P02545,P00846,P41227,P21912,O43707,Q9NQT5,P07602,Q9H061,Q13868,Q9BVA1,Q13510,O14979,P36551,Q9Y5P6,Q8NI60,Q9UBB4,P50995,Q70HW3,P06753,P57740,Q13813,P00374,P00403,O15121,Q969G3,P03915,Q14671,P07196,Q8WWY3,Q92733,Q00577,Q9UEY8	35
Muscle hypertrophy of the lower extremities	0.6245252887950371	1.685909526563345	0.0918132267511082	1.0	0.6773643568412395	10	Q9NR77,P50570,Q8NAT1,P02545	4
Urinary glycosaminoglycan excretion	0.6780954974018764	1.6847114487634238	0.0920442565624388	1.0	0.6779699933207471	7	P54802,P16278,P04066	3
Occipital encephalocele	0.7468342469012486	1.674907876917156	0.093952307910009	1.0	0.6844951797344273	5	P07942,O43505,Q10713	3
Progressive neurologic deterioration	0.5087428078942353	1.6730376851167448	0.0943198775311	1.0	0.6844951797344273	20	P07602,P04062,P20700,P54802,P16278,P21912,Q5XKP0,Q10713,O43681	9
Type ii lissencephaly	0.746132964015941	1.6718985243776343	0.0945443338326454	1.0	0.6844951797344273	5	P07942,Q8NAT1,O43505	3
Flared iliac wing	0.8106305946522507	1.6717094742773602	0.0945816249965032	1.0	0.6844951797344273	4	O95831	1
Abnormality of metacarpal epiphyses	0.810376119971312	1.6706793314751154	0.0947850334563868	1.0	0.6844951797344273	4	P51812,P16435	2
Cardiovascular calcification	0.658573675549849	1.6669363736137996	0.0955270572538959	1.0	0.6844951797344273	8	O75844,O75431,P02545	3
Generalized muscle weakness	0.4724739709636557	1.6653708606250246	0.0958387892177665	1.0	0.6844951797344273	29	O95831,Q92804,P35637,P10253,P21912,Q15165,Q96CV9,P50995	8
Basal ganglia calcification	0.6738792658227218	1.6646992718480786	0.0959727683433928	1.0	0.6844951797344273	7	P03915,P29992,Q9Y3Z3,P00403	4
Generalized hyperkeratosis	0.8084828711256049	1.6630129985529647	0.0963098335691032	1.0	0.6844951797344273	4	O75844,P21912,P02545	3
Muscle fibrillation	0.5403601566617869	1.6627014597068792	0.0963722098824335	1.0	0.6844951797344273	15	P50570,O95831,P51114,Q16637,Q13510,Q9BQT8,Q96CV9,Q9NQT5	8
Nephropathy	0.5144089944101152	1.6611194677627334	0.0966894553095862	1.0	0.6844951797344273	19	Q7Z4L5,Q14108,P03915,P06280,P57740,P36551,P00403,Q10713	8
Fibrous tissue neoplasm	0.5135915525814762	1.6554808257704128	0.0978270026992975	1.0	0.6872478100054197	19	Q07954,Q15392,Q13126,Q969G3	4
Hand polydactyly	0.4707937903640214	1.6518442799476336	0.0985662993366229	1.0	0.6872478100054197	29	Q7Z4L5,O60826,P21964,Q15067,O00459,O96028,P98175,O43924,Q9H3P2,P98172,Q10713,Q9UHX1	12
Abnormal morphology of the musculature of the neck	0.5794600415614128	1.6514993135969858	0.0986366607967381	1.0	0.6872478100054197	12	P41227,Q99720,P35637,O75569	4
Abnormal circulating copper concentration	0.7412840583316206	1.65107191859464	0.098723890527089	1.0	0.6872478100054197	5	P35670,Q15904,Q9Y487	3
Meningioma	0.6704972700547248	1.6486220152570032	0.0992250956376383	1.0	0.6872478100054197	7	Q969G3,P78549,P02545	3
Abnormal circulating fatty acid concentration	0.5124407785601539	1.6475387003982764	0.0994473683876411	1.0	0.6872478100054197	19	O43772,O75381,P23786,O75431,P56589,P16219	6
Agenesis of corpus callosum	0.3815758743645342	1.6465782059368594	0.0996447731308169	1.0	0.6872478100054197	80	P78318,P46100,P98172,Q7LGA3,Q9UHX1,Q10713,Q9BVA1,Q9Y5P6,Q14004,Q15392,O96028,Q8NAT1,P00403,Q9H3P2,P53701,Q969G3,P61978,O15344,P03915,P23786,O43505,Q86XL3	22
Abnormality of the parathyroid gland	0.4888751243595738	1.6437536039077756	0.1002271085167887	1.0	0.6872478100054197	22	P35670,P03915,P21964,P00403,Q08J23	5
Upper airway obstruction	0.7388510157846419	1.6406094290257551	0.1008785164397934	1.0	0.6872478100054197	5	O75844,Q96HY6,P02545	3
Hypolipoproteinemia	0.6525007929588792	1.637109481506936	0.1016075958114339	1.0	0.6872478100054197	8	P37268,Q15800	2
Centrally nucleated skeletal muscle fibers	0.6521730934892187	1.635497855463181	0.1019447238836885	1.0	0.6885050194637248	8	P50570,P51114,P06753,Q13586,P22626,Q9BPX6	6
Abnormal renal cortex morphology	0.4326254435487826	1.631698324580663	0.1027430531903657	1.0	0.6886218654440682	49	Q8N1F7,Q14C86,P02545,Q14108,P03915,O75431,Q8NFH4,P00846,P00813,P21912,P00403,Q03252	12
Abnormal brainstem mri signal intensity	0.4871347550141876	1.630869311230175	0.1029178984770793	1.0	0.6886218654440682	22	O43676,Q96CU9,O95831	3
Ventricular hypertrophy	0.465718442545606	1.630843937769297	0.1029232536648243	1.0	0.6886218654440682	32	P02545,O43772,P10253,P03915,P23786,O75431,O75844,P21912,P00403,Q15233	10
Postaxial hand polydactyly	0.6137573178406637	1.62883697448453	0.1033475351114234	1.0	0.6886218654440682	10	Q7Z4L5,O43924,O00459,Q10713	4
Increased csf lactate	0.4198306678187863	1.628782796596948	0.1033590078157007	1.0	0.6886218654440682	53	O95831,P39210,P00846,O43676,Q96CU9,O96000,Q8NI60,P00403	8
Neoplasm of the oral cavity	0.5902897102218043	1.620576828731733	0.1051084249717082	1.0	0.6902558477970048	11	O43924,P02545	2
Abnormal upper motor neuron morphology	0.6490198720975204	1.6199793075996378	0.1052367219620213	1.0	0.6902558477970048	8	Q99720	1
Abnormal pupillary light reflex	0.9834915783854472	1.6124042571022266	0.1068739991005633	1.0	0.6969777133320408	3	Q9NR77	1
Slow pupillary light response	0.9834915783854472	1.6124042571022266	0.1068739991005633	1.0	0.6969777133320408	3	Q9NR77	1
Asthma	0.4999897982862483	1.6112310559842322	0.107129371265134	1.0	0.6971261463688933	20	P00813,P21964	2
Blindness	0.3776890703865467	1.609932397164665	0.1074126154427403	1.0	0.6971261463688933	79	P07602,P53701,P16278,P06865,P50897,P00846,O43676,Q96CU9,O96000	9
Nemaline bodies	0.7950427655027975	1.608479918865528	0.1077301107715604	1.0	0.6971261463688933	4	O43676,P07196	2
Short upper lip	0.7949678616065302	1.6081754749990067	0.1077967528633576	1.0	0.6971261463688933	4	P46100	1
Sparse lateral eyebrow	0.6980177283321871	1.607938366462497	0.1078486780060172	1.0	0.6971261463688933	6	P61978,Q08J23	2
Vascular skin abnormality	0.4075787875924421	1.6071590124923822	0.1080194907045524	1.0	0.6971261463688933	114	P21964,P22830,P00846,P46100,Q8IZA0,Q08J23,Q14108,Q9Y487,Q16625,Q13126,P51812,P00403,Q9NWM8,P35670,P53701,P16278,Q07954,P03915,P10619	19
Titubation	0.6299032394203182	1.604264595078544	0.1086557416990334	1.0	0.6971261463688933	9	P20700,P35637,Q5JRX3,Q6PJG6,Q01082,Q99720	6
Broad palm	0.7301994927792744	1.6033418216910915	0.1088592079248276	1.0	0.6971261463688933	5	O95831	1
Upper limb amyotrophy	0.5248323880534825	1.599941090939353	0.1096116524993637	1.0	0.7007402431650831	16	Q9NR77,P07196	2
Ovarian cyst	0.5532375947222222	1.5976939641752026	0.1101111027111445	1.0	0.7011317338608649	13	P02545,P21912,P20585,Q03252,P78549	5
Abnormality of circulating adrenocorticotropin level	0.5853161814792128	1.5928668249771891	0.1111900700028307	1.0	0.7066264064246137	11	Q969G3,Q13423,P46100	3
Intracellular accumulation of autofluorescent lipopigment storage material	0.97098141506358	1.5916188027430476	0.1114703826346283	1.0	0.7066264064246137	2	O75503	1
Abnormal gastrointestinal motility	0.4735512842315679	1.5912213232320231	0.111559775702374	1.0	0.7066264064246137	23	P35637,P61978,P03915,P06280,P36551,Q9NSE4,P00403,Q01844	8
Abnormal midbrain morphology	0.6942549916509452	1.590925515468009	0.1116263395190997	1.0	0.7066264064246137	6	O43924,P04062	2
Chronic pulmonary obstruction	0.6581817179794172	1.5898959078605672	0.1118582702246344	1.0	0.7066264064246137	7	P21964	1
Abnormal corpus striatum morphology	0.5229399459625037	1.5876080237712535	0.1123750026904246	1.0	0.7066264064246137	16	O95831,P00846	2
Short nail	0.7898300127141794	1.5872797061299655	0.1124493093961984	1.0	0.7066264064246137	4	Q9Y487,P02545	2
Recurrent fever	0.5168325864894929	1.5870105792000553	0.1125102486133167	1.0	0.7066264064246137	17	Q9NR77,Q13510,P28070	3
Hypotension	0.4636003746822216	1.585723081015738	0.1128021409763513	1.0	0.7066264064246137	27	P49366,Q13423,P07602,O43772	4
Sensory ataxia	0.7893992177666525	1.5855264879450317	0.1128467636288061	1.0	0.7066264064246137	4	Q9NR77	1
Abnormal circulating acetylcarnitine concentration	0.6572061386571444	1.5852321154842832	0.1129136062371387	1.0	0.7066264064246137	7	P23786,O43772	2
Stuttering	0.7890314227235797	1.5840295220800258	0.1131870010623341	1.0	0.7066264064246137	4	P00403	1
Wormian bones	0.5031785095262309	1.5834408492238967	0.1133210186050017	1.0	0.7066264064246137	19	O95831,Q32P28,P02545,Q9Y487,O75844	5
Tongue fasciculations	0.5825489354754229	1.5774229678487603	0.1146982340469477	1.0	0.7075198340564773	11	O95831,P51114,Q13510,Q9BQT8,Q96CV9,Q9NQT5	6
Prominent sternum	0.9673948483860462	1.5774224554235228	0.1146983518756936	1.0	0.7075198340564773	2	O95831	1
Generalized clonic seizure	0.6907778846452115	1.575185122420845	0.1152137202584249	1.0	0.7087200738058786	6	P07602,O14936	2
Abnormal nephron morphology	0.3964212289957962	1.5707297733742778	0.1162454303488333	1.0	0.7091778445806916	58	Q8N1F7,Q14C86,P02545,Q14108,P03915,P23786,O75431,Q8NFH4,P00846,P00813,P21912,P00403,Q03252	13
Neoplasm of fatty tissue	0.5812098662777746	1.569943102979188	0.1164283486789083	1.0	0.7091778445806916	11	Q9BUK6,P03915,P21912,P29992,Q8TAA9,P53680	6
Hand muscle weakness	0.5810325364659906	1.5689522426778906	0.1166590673894698	1.0	0.7091778445806916	11	Q9NR77	1
Abnormality of the 5th toe	0.6892176406498955	1.5681162876694483	0.1168539960432077	1.0	0.7091778445806916	6	Q7Z4L5,O43924,Q10713	3
Postaxial foot polydactyly	0.6892176406498955	1.5681162876694483	0.1168539960432077	1.0	0.7091778445806916	6	Q7Z4L5,O43924,Q10713	3
Cranial asymmetry	0.7846479218212761	1.56617840632565	0.1173068565001869	1.0	0.7091778445806916	4	P40855	1
Distal amyotrophy	0.4066185633647645	1.5625161072509208	0.118166454362462	1.0	0.7091778445806916	55	Q9NR77,P50570,Q8TD16,P02545,P35637,P07196,P39210,Q13510,P21912,Q9BQT8,Q96BR5,Q99720	12
Hypoplasia of the iris	0.7836940953687789	1.5622917459897658	0.1182192755907682	1.0	0.7091778445806916	4	Q7LGA3,O96028	2
Distal upper limb amyotrophy	0.5473432328005339	1.5621687554872108	0.1182482390238894	1.0	0.7091778445806916	13	Q9NR77,P07196	2
Abnormality of peripheral nerves	0.4325715643521277	1.5536873832818938	0.1202590040174926	1.0	0.7183976198000349	46	Q9NR77,P07602,P50570,O95831,P02545,P07196,P39210,O15121,Q99720	9
Sea blue histiocytosis	0.9611998695793932	1.5528941758784205	0.120448418433456	1.0	0.718586108399858	2	P16278	1
Hypokinesia	0.5779296391030951	1.551602320882446	0.1207574074956658	1.0	0.7190020997325806	11	O95831,Q99567,P04062	3
Goiter	0.7181512574496121	1.5512822762650165	0.1208340523496098	1.0	0.7190020997325806	5	P21912,P48735	2
Centrocecal scotoma	0.7792170562192641	1.5440377719548883	0.1225791823969504	1.0	0.7265370289985915	4	P00846	1
Arthralgia	0.4517381729644792	1.541832279545063	0.1231143557711902	1.0	0.7273674872787671	35	P28070,P35670,P14174,P02545,Q15800,Q13510,Q96HY6,O15460	8
Duplication involving bones of the feet	0.5206864049851966	1.5369750927493404	0.1242994088443749	1.0	0.7273674872787671	15	Q7Z4L5,P21964,O43924,Q10713,O96028	5
Abnormal mitochondria in muscle tissue	0.4662840006522861	1.535776940735963	0.1245930970725386	1.0	0.7273674872787671	23	O43676,Q96CU9,O96000,P00403	4
Muscle spasm	0.3969011737214115	1.5350735028379647	0.1247657741017254	1.0	0.7273674872787671	57	Q9NR77,Q92804,P35637,Q9H6K4,P06280,P07196,P23786,P00846,Q15165,P53985,Q96CV9,P50995,P04062,O00592	14
Distal sensory impairment	0.4433289402527459	1.5347595518394206	0.1248429017021071	1.0	0.7273674872787671	40	Q9NR77,P50570,O95831,P20700,P54802,P02545,P07196,P39210,Q9NSE4,Q96BR5	10
Cardiac conduction abnormality	0.454011255276747	1.5338899105151695	0.1250567385551562	1.0	0.7273674872787671	32	P02545,O43772,Q07954,P03915,P23786,P00846,P50402,P00403,Q14BN4	9
Mitochondrial respiratory chain defects	0.7138332928973933	1.5325819075071736	0.1253789021255049	1.0	0.7273674872787671	5	Q4J6C6,P03915,P00846	3
Axonal degeneration	0.6803792613039285	1.5280071822540189	0.1265107547300834	1.0	0.7273674872787671	6	Q6DKK2,Q9BQT8	2
Glomerulopathy	0.614909707219328	1.527573492530519	0.1266184673071344	1.0	0.7273674872787671	9	Q14108,P02545,Q03252	3
Periauricular skin pits	0.6302035838613117	1.5269764949403932	0.1267668563199919	1.0	0.7273674872787671	8	P61978,Q07954	2
Abnormal csf metabolite level	0.3885042665735351	1.525662216175597	0.1270940089046424	1.0	0.7273674872787671	59	O95831,P39210,P00846,O43676,Q96CU9,O96000,Q8NI60,P00403	8
Mucosal telangiectasiae	0.6143952123010894	1.5249339585690151	0.1272755707587807	1.0	0.7273674872787671	9	P10619,P21912,P06280,Q8IZA0	4
Decreased circulating cortisol level	0.6292315448431323	1.5221542948559177	0.1279704242035773	1.0	0.7273674872787671	8	Q969G3,Q13423	2
Shoulder girdle muscle weakness	0.5722032180775383	1.5195247655192154	0.1286304591198439	1.0	0.7273674872787671	11	O14979,P07602,Q8TD16	3
Vertebral hypoplasia	0.5932471353817588	1.5193960125347168	0.1286628450615667	1.0	0.7273674872787671	10	Q8TAA9,Q6NUQ1,P16278,Q96HY6	4
Fever	0.3749119177807211	1.5193661655205806	0.1286703535487596	1.0	0.7273674872787671	84	Q9NR77,P07602,P28070,P14174,Q8N1F7,Q14C86,P61978,P03915,P10253,P23786,Q8NFH4,O14936,P00846,P00813,Q13510,P00403,O15460	17
Abnormality of extrapyramidal motor function	0.3599264689742102	1.5169840322975832	0.1292707155554751	1.0	0.7273674872787671	68	Q15043,P35610,P98175,P07686,Q9BPX6,O00592,P07602,P35637,P17480,Q9UBB4,O75569,Q9Y3Z3,P06753,Q9H6K4,P16278,O14949,P06865,O96008,Q00577,Q9H9P8,P61457,Q99720,Q6DKK2,P04062	24
Lower limb pain	0.6775310563649432	1.515058718358406	0.1297575347358972	1.0	0.7279032182839539	6	P00846	1
Blurred vision	0.7096456009976518	1.5144253526642022	0.1299179931686738	1.0	0.7279032182839539	5	P03915,P04439,P00846	3
Lower limb amyotrophy	0.4920679000168516	1.5061663138684778	0.1320244846287188	1.0	0.7337696312087774	19	Q9NR77,P07196,Q8TD16,P02545	4
Neuronal loss in central nervous system	0.5543369488540534	1.5059237312161171	0.1320867537297583	1.0	0.7337696312087774	12	O15118,P07602,P35637	3
2 3 toe syndactyly	0.4535019779882046	1.5029028358671004	0.1328641016340792	1.0	0.7355695371057906	26	P51812,P37268,O43924,Q9UHX1	4
Neoplasm of the male external genitalia	0.6249140982683965	1.5007159031893842	0.1334290579683026	1.0	0.7370983881938271	8	Q13423	1
Pedal edema	0.639420861599012	1.4999233997228094	0.1336342458451351	1.0	0.7373370752570366	7	Q14108	1
Anterior rib cupping	0.7058885085041877	1.4981193007833122	0.134102257339324	1.0	0.7389247429938699	5	P00813	1
Abnormal larynx morphology	0.4528316874385535	1.4975636666610224	0.1342466525606174	1.0	0.7389247429938699	26	P07602,P02545,P21964,Q13510,Q96HY6	5
Abnormality of adrenal physiology	0.4494368906582042	1.495844566399681	0.1346941646366557	1.0	0.7394692657517448	32	P40855,Q969G3,P33991,O75381,P56589,Q9NSE4,Q13423,Q9H4A3	8
Male reproductive system neoplasm	0.5524054470625975	1.4946677174138725	0.1350011834565874	1.0	0.7394692657517448	12	Q13423	1
Arteriosclerosis	0.5360473947210159	1.493835277296012	0.1352186785308156	1.0	0.7394692657517448	13	O15118,P16278,P02545,Q13510	4
Chordee	0.6727097797072312	1.4931157181016002	0.1354068988029619	1.0	0.7394692657517448	6	P53701	1
Abnormality of the achilles tendon	0.5358561674366998	1.4926757293620887	0.1355220894977815	1.0	0.7394692657517448	13	Q92734,Q8TD16,Q9BTV4,P02545,Q15041,P50402,Q08J23,Q15149	8
Heterogeneous	0.4397642917453335	1.4879076122065056	0.1367752599132696	1.0	0.7439629220345392	39	Q9NR77,P02545,P03915,P21964,P07196,P00846,O75844,P11717,P46100	9
Gonadal neoplasm	0.4751253486714961	1.485421521177238	0.1374321981987414	1.0	0.7465290766117791	21	Q01844,Q13423,P02545,P48735	4
Hypoketotic hypoglycemia	0.6356945703397235	1.4819847832098865	0.1383443439131202	1.0	0.7477822201455732	7	O43772	1
Sensory neuropathy	0.4485272401973152	1.4816396434409318	0.1384362047140517	1.0	0.7477822201455732	31	O95831,Q8IV08,P03915,Q15067,P00846,Q9NSE4,P00403	7
Generalized myoclonic seizure	0.4373539547390294	1.4814591106721635	0.1384842731947975	1.0	0.7477822201455732	40	P07602,P16278,P03915,Q01105,Q13510,P00846,Q96N66,P04062	8
Abnormal diaphysis morphology	0.3765758485305491	1.479986972578121	0.1388767233361756	1.0	0.7479129784492896	61	Q9NR77,Q32P28,Q13126,P16278,Q9Y487,O75431,P51812,Q96HY6,P46100,Q7LGA3	10
Hemiparesis	0.5114731545632851	1.477710523797558	0.1394852763610703	1.0	0.7496304344694122	15	P03915,Q9BVA1,P00403	3
Talipes equinovarus	0.3584527939020677	1.4749092524047251	0.1402369424931955	1.0	0.7517953945038628	70	Q9NR77,Q8TD16,P21964,Q96A33,P98175,P46100,P32929,Q9Y487,Q6NUQ1,Q8NI60,Q15392,O96028,P06753,Q8NBU5,Q9H3P2,Q8TAA9,Q9NWM8,P16435,P61978	19
Oculomotor nerve palsy	0.7002095658343752	1.4734440780955158	0.1406313323202326	1.0	0.7522371618351338	5	Q969G3,Q15149	2
Calcinosis	0.6998027493108898	1.4716751875339564	0.1411086110652222	1.0	0.7532091703423224	5	O75844,P02545	2
Posterior embryotoxon	0.4995393642252799	1.4715442657306392	0.1411439855672234	1.0	0.7532091703423224	17	P53701,O75381,P21964,P56589,Q7LGA3	5
Abnormal circulating fatty acid anion concentration	0.5320791498511409	1.4697552480664222	0.1416280535736276	1.0	0.7540244442890678	13	P23786,O43772	2
Anhidrosis	0.6670537103953308	1.467335468537646	0.1422848196494013	1.0	0.7566360970141061	6	P20700,Q9H4A3	2
Head titubation	0.6664247312296552	1.464466156987085	0.1430666234753825	1.0	0.7595744717107404	6	Q99720,P20700,P35637	3
Abnormal placenta morphology	0.6316959202168562	1.4627115784680138	0.14354631658956	1.0	0.7595744717107404	7	P16278,P02545	2
Difficulty walking	0.3630283372355339	1.4621822897869574	0.1436912634415128	1.0	0.7595744717107404	76	Q9NR77,P07602,P50570,P35670,Q969G3,Q96F07,P35637,O43681,Q15067,P00846,Q13510,O14773,Q99720,Q9BPX6	14
Hip pain	0.697414832259518	1.4612889379705978	0.1439361643460115	1.0	0.7595744717107404	5	O75844,P02545	2
Postaxial polydactyly	0.4914130176136927	1.4572265857875828	0.1450538441996838	1.0	0.7595744717107404	18	Q7Z4L5,P61978,O00459,P98175,O43924,Q10713	6
Preaxial hand polydactyly	0.6644018561863322	1.4552348816629663	0.1456042472083591	1.0	0.7600808868032695	6	Q9UHX1,Q9H3P2	2
Primary adrenal insufficiency	0.5074478881391021	1.4517481591030614	0.1465716431743571	1.0	0.7625075654053413	15	P40855,Q969G3,O75381,P56589,Q13423	5
Increased circulating prolactin concentration	0.6285683439706813	1.447620535784197	0.1477232046766987	1.0	0.7627863323479636	7	Q969G3,Q9BUK6	2
Ascites	0.4765694470062452	1.4445301311031469	0.1485899103765553	1.0	0.765137185558914	20	O15118,Q14108,Q01844,Q13510	4
Abnormal left ventricle morphology	0.4458072597539913	1.4407784884099846	0.1496472726105839	1.0	0.7653976504736807	25	P10253,P06280,P03915,O75431,P21912,P00403,Q15233	7
Mutism	0.5270540999536237	1.4392106196494676	0.1500908574587005	1.0	0.7653976504736807	13	P53701,P35637,Q13510	3
Rigidity	0.4043941088194104	1.438564923464262	0.1502738304856024	1.0	0.7653976504736807	52	P07602,P16278,Q96F07,O43681,Q9H6K4,O14936,P00846,Q96CU9,Q15392,P04062,Q9BPX6	11
Slender long bone	0.5426136716519205	1.4374790175869574	0.1505819306482652	1.0	0.7653976504736807	12	P37268,Q9Y487	2
Abnormality of t cell physiology	0.4999810586325471	1.437150280525494	0.150675296921328	1.0	0.7653976504736807	16	P21964	1
Abnormality of the musculature of the lower limbs	0.4437598396397501	1.436849183725751	0.1507608516560401	1.0	0.7653976504736807	30	Q9NR77,P50570,P02545,P07196,P00846,O14979,P50402,Q8NAT1,O00592	9
Diffuse mesangial sclerosis	0.5051346171748353	1.4368098941662095	0.1507720182641749	1.0	0.7653976504736807	15	Q8N1F7,Q14C86,Q8NFH4,P57740,P00813,O43707	6
Pericarditis	0.6917288659035009	1.4365360452344471	0.1508498672328153	1.0	0.7653976504736807	5	P14174	1
Cutaneous photosensitivity	0.4532698753680386	1.4359993584335184	0.1510025238230306	1.0	0.7653976504736807	23	Q08J23,P22830,P37268,Q14108	4
Abnormal nerve conduction velocity	0.4285665117273902	1.4350009358300069	0.151286830923125	1.0	0.7653976504736807	42	Q9NR77,P07602,O95831,P50570,P02545,P07196,O15121,Q99720	8
Nephrotic syndrome	0.4524466795875319	1.4296687807864477	0.1528121045170043	1.0	0.7665533666647025	23	Q8N1F7,O95721,Q14108,P06280,P57740,P00813,Q12769,Q03252,Q07021	9
Aplasia hypoplasia of the femur	0.5412740921116279	1.429639594466752	0.1528204853993031	1.0	0.7665533666647025	12	O95831,Q96HY6,Q9UHX1	3
Macrogyria	0.6247782836088249	1.4293143605565966	0.1529139003201276	1.0	0.7665533666647025	7	Q15392,Q8NAT1,O14936	3
Abnormality of krebs cycle metabolism	0.6586048210649994	1.4287541276963178	0.1530749143888872	1.0	0.7665533666647025	6	P00846	1
Neoplasm of the thyroid gland	0.4594284094610303	1.4242166809973955	0.1543837575755029	1.0	0.7722580928392191	22	P21912,Q969G3,P02545,P42892	4
Neurofibromas	0.623511899302776	1.4231932655074404	0.1546801373336606	1.0	0.7728913119021108	7	Q07954,Q969G3,P21912	3
Increased muscle lipid content	0.6089412709449581	1.421135887027784	0.1552772588605921	1.0	0.7741753366192942	8	P23786,Q8NI60,P06753	3
Spondyloepimetaphyseal dysplasia	0.6863201595952171	1.4129633934125827	0.1576664877883633	1.0	0.7783651263494049	5	O95831,Q96HY6	2
Recurrent aspiration pneumonia	0.6551043703419935	1.4127460771076013	0.1577303982659681	1.0	0.7783651263494049	6	P04062,Q13510	2
Limb pain	0.5728333349375735	1.4096180673105878	0.1586524892176655	1.0	0.7797668411173134	10	O75477,P36551,O75569,P00846	4
Abnormal peripheral nervous system physiology	0.4071667965365057	1.408533886528466	0.1589730401190829	1.0	0.7797668411173134	50	Q9NR77,P07602,P50570,O95831,P02545,P07196,P39210,O15121,Q99720	9
Abnormal vascular physiology	0.4194997555972601	1.408086629359251	0.1591054197141799	1.0	0.7797668411173134	45	P02545,P25705,Q14108,P03915,O75844,O96000,P00403,Q8IZA0,O15460,Q9NWM8	10
Skeletal muscle hypertrophy	0.4215896139673588	1.4075312153668214	0.1592699277546119	1.0	0.7797668411173134	44	Q9NR77,P50570,P16278,P02545,P61978,P10253,Q96A33,P21912,Q9Y5P6,Q8NAT1,P46100,Q7LGA3,Q10713	13
Skin ulcer	0.4409311130645744	1.4061630403931045	0.1596757163398188	1.0	0.7797668411173134	28	Q14739,P02545,Q15149,Q03519,P39210,P48735,Q9H4A3,O95394,Q8IZA0,O15460,O75874,P04062	12
Low plasma citrulline	0.9240299967394928	1.4056610636601083	0.1598247941042296	1.0	0.7797668411173134	2	P00846	1
Multiple glomerular cysts	0.9240299967394928	1.4056610636601083	0.1598247941042296	1.0	0.7797668411173134	2	P00846	1
Leber optic atrophy	0.9240299967394928	1.4056610636601083	0.1598247941042296	1.0	0.7797668411173134	2	P00846	1
Retinal arterial tortuosity	0.9240299967394928	1.4056610636601083	0.1598247941042296	1.0	0.7797668411173134	2	P00846	1
Vascular tortuosity	0.9240299967394928	1.4056610636601083	0.1598247941042296	1.0	0.7797668411173134	2	P00846	1
Prenatal maternal abnormality	0.5199927708278658	1.3961971379950813	0.1626551383306891	1.0	0.7868291069939393	13	P16435,P02545,O43772,P49366,Q8TAA9,Q01082	6
Decreased plasma carnitine	0.5500299446971242	1.3946658892222252	0.163116615719709	1.0	0.7873879477795499	11	O43772	1
Cupped ribs	0.6507370669413265	1.3927558443317811	0.1636936350827897	1.0	0.7893362573059948	6	P00813	1
Raynaud phenomenon	0.6500012843151968	1.3893861037134458	0.1647153736315627	1.0	0.790911794062103	6	O75844,Q14739,P02545	3
Prominent eyelashes	0.6019694292162777	1.3862803606691871	0.1656613113695635	1.0	0.7921116484813584	8	O14497,Q969G3,P20700,Q92785	4
Abnormality of retinal pigmentation	0.3492983489477875	1.3837994619341307	0.1664198678592896	1.0	0.793238993188991	68	Q7Z4L5,P53701,P02545,O75381,P03915,Q6P4Q7,Q15067,P00846,P56589,Q96CU9,P21912,P51812,P00403	13
Muscle fiber atrophy	0.4739597297832618	1.379434924030791	0.1677606976302561	1.0	0.7956191000754963	19	P35637,P02545,P61978,P23786,P50402,P22626,Q99720	7
Hemolytic anemia	0.4335833183070922	1.377837600825336	0.1682534339988333	1.0	0.7969715208768878	34	P00813,P09601,P22830	3
Proximal tubulopathy	0.437569967395079	1.375272148118618	0.1690470878951959	1.0	0.7976135836921552	25	O43676,Q96CU9,O96000,P00403	4
Multifactorial inheritance	0.5463951285427725	1.3741098030745869	0.1694075965237389	1.0	0.7976135836921552	11	P10321,P42892	2
Dolichocephaly	0.4372577440488872	1.3727851636999422	0.1698191443545567	1.0	0.7983672952974733	25	P40855,Q9H3P2,P61978,Q4J6C6,O75381,P56589,P46100,Q01082,Q03164,O96028	10
Punctate cataract	0.7358690042668542	1.3665333299852576	0.171771626899319	1.0	0.8032904591146084	4	P08670	1
Hallucinations	0.4240801885961411	1.362519119296988	0.173034114492018	1.0	0.8040085647066093	40	P07602,O75503,P21964,P50897,Q6DKK2	5
Broad nasal tip	0.3937263620650482	1.3597121834101698	0.1739210211600583	1.0	0.8040085647066093	53	O95831,Q969G3,P16278,P61978,Q9Y487,Q92796,O14936,P51812,Q00577,O43924,Q7LGA3,Q9UHX1	12
Gowers sign	0.4931776008585427	1.359403991588619	0.1740186069551204	1.0	0.8040085647066093	15	Q8TD16,P06753,Q9BUK6,P07196,Q13510,Q8NAT1	6
Exercise induced muscle cramps	0.6431882744902234	1.3581596763282875	0.1744130226166498	1.0	0.8040085647066093	6	P53985	1
Aplasia hypoplasia involving the pelvis	0.5434108026444977	1.3572161644528729	0.174712536084802	1.0	0.8040085647066093	11	O95831,O75431,Q96HY6,Q9H3P2	4
Corneal dystrophy	0.7331592923270365	1.3554031192744491	0.1752891563725032	1.0	0.8040085647066093	4	Q13868	1
Tongue nodules	0.9106618845777724	1.352757031044503	0.1761332641241952	1.0	0.8040085647066093	2	O43924	1
Alveolar ridge overgrowth	0.9106618845777712	1.352757031044498	0.1761332641241968	1.0	0.8040085647066093	2	Q15392	1
Central hypoventilation	0.6086044102009174	1.350985006388005	0.1767002357022464	1.0	0.8040085647066093	7	O43819,O75306,Q8N183,P06753	4
Hyperlipoproteinemia	0.5806403027452889	1.3507519077890364	0.1767749183214666	1.0	0.8040085647066093	9	Q8N511,P02545	2
Increased ldl cholesterol concentration	0.5806403027452889	1.3507519077890364	0.1767749183214666	1.0	0.8040085647066093	9	Q8N511,P02545	2
Abnormal talus morphology	0.4812147318732092	1.3483192208335264	0.1775557326598578	1.0	0.8040085647066093	17	P02545,Q99567,Q9UPT5,O75844,P98175,Q9UHX1	6
Ventricular arrhythmia	0.4279528584253075	1.3477944236156167	0.1777245119684363	1.0	0.8040085647066093	36	P02545,O43772,P10253,P03915,P23786,P00846,P41227,P21912,P36551,P50402,P00403,P42892,Q8NFF5,Q14BN4	14
Subcutaneous hemorrhage	0.4190027644646751	1.347492775045845	0.1778215787953516	1.0	0.8040085647066093	42	Q13126,Q14108,P21964,P46100,Q16625,Q9NWM8	6
Bone pain	0.4628541870132492	1.3461533563076329	0.1782530641392448	1.0	0.8040085647066093	20	P35670,P07602,P48735,Q14108	4
Supraventricular arrhythmia	0.4859474235660483	1.3445278750131957	0.1787777487195143	1.0	0.8040085647066093	16	P02545,P00846,P41227,P50402,Q14BN4	5
Schizophrenia	0.462523706193635	1.3437772977841225	0.17902041280623	1.0	0.8040085647066093	20	P07602,P21964,P16615,P04062,O43681	5
Neoplasm of the small intestine	0.6396632218029527	1.341987078531626	0.17960018534249	1.0	0.8040085647066093	6	P78549,P02545	2
Abnormality of femur morphology	0.3484042732034982	1.341896275715707	0.1796296294914323	1.0	0.8040085647066093	65	P07602,O95831,Q32P28,P04062,P16278,P02545,Q9Y487,O75431,O75844,P51812,Q6NUQ1,Q96HY6,P46100,Q7LGA3,Q9UHX1	15
Diaphragmatic weakness	0.6697245667716808	1.3404952646631318	0.1800843828036922	1.0	0.8040085647066093	5	Q9NR77	1
Ketotic hypoglycemia	0.9086757990867518	1.3375907471780035	0.1810298823400109	1.0	0.8040085647066093	3	Q13423,P53985	2
Dysdiadochokinesis	0.5102514199902539	1.336701361076396	0.1813201374829851	1.0	0.8040085647066093	13	P20700,P41440,Q9BUK6,O75503,O75027,Q6DKK2	6
Underdeveloped nasal alae	0.4677755266905234	1.3359662212465857	0.181560314300111	1.0	0.8040085647066093	19	Q5KU26,P55795,P61978,O75431,P41227,Q00577,Q08J23,Q16531	8
Macrovesicular hepatic steatosis	0.604699217921227	1.332026987975523	0.1828513203317807	1.0	0.8040085647066093	7	O75431,P23786,P39210	3
Epiphora	0.7270343371879423	1.3302358178922302	0.1834405863394967	1.0	0.8040085647066093	4	Q07954	1
Neurodegeneration	0.4317471892117493	1.3297047767668615	0.183615560380824	1.0	0.8040085647066093	27	Q92804,Q9Y3Z3,P35637,Q96I59,P17480,P43243,P09651,Q15165,Q6DKK2,Q96CV9,P50995,Q14203,Q5JTZ9,Q01082	14
Type 1 muscle fiber atrophy	0.6041036153325082	1.3291342156035355	0.1838036937144633	1.0	0.8040085647066093	7	P61978,P50402,P02545	3
Abnormal lung development	0.418650718785412	1.3283428311977152	0.1840648762309356	1.0	0.8040085647066093	41	Q7Z4L5,P02545,P25705,P21964,Q99567,P41227,O96000,P98175,O75844,Q9H3P2,Q8TAA9,Q9UHX1,O96028	13
Peripheral hypermyelination	0.9059217480913712	1.3274655774379975	0.1843547194590686	1.0	0.8040085647066093	3	Q9NR77	1
Abnormal circulating sulfur amino acid concentration	0.5899736682493313	1.326159978455181	0.1847867126526927	1.0	0.8040085647066093	8	P41440	1
Abnormality of the shoulder girdle musculature	0.4306673402004433	1.3253115518535532	0.1850678391082341	1.0	0.8040085647066093	29	P07602,Q8TD16,P02545,Q9Y487,P07196,O14979,P50402	7
Cyanosis	0.4721399661085689	1.3248208205899088	0.1852305874528017	1.0	0.8040085647066093	18	P51812,P98175,P02545,O43772	4
Pulmonary hypoplasia	0.4462053345709639	1.3247342054533546	0.1852593238784787	1.0	0.8040085647066093	22	P02545,P25705,Q99567,P41227,O96000,P98175,O75844,Q8TAA9	8
Metatarsus valgus	0.7252273177331107	1.3228088261034838	0.1858989613356965	1.0	0.8040085647066093	4	Q8NAT1,O43505	2
Gastrointestinal obstruction	0.5230508995260563	1.3226669338081396	0.1859461644175877	1.0	0.8040085647066093	12	P21912,Q01844,P42892	3
Visual acuity test abnormality	0.6655102843848619	1.3220648003468691	0.186146573769161	1.0	0.8040085647066093	5	P25054,Q969G3,Q12824	3
Frontotemporal dementia	0.588761967333452	1.320077826781017	0.186809034976445	1.0	0.8040085647066093	8	O96008,Q14203,P22626,P35637	4
Aplasia hypoplasia involving the vertebral column	0.4870148481624126	1.3193971188335114	0.1870363844850771	1.0	0.8040085647066093	15	O95831,P16278,Q96HY6	3
Hyporeflexia of upper limbs	0.9021845451581458	1.319245516355208	0.1870870459772733	1.0	0.8040085647066093	2	Q9NR77	1
Abnormality of the musculature of the upper arm	0.6019123704358808	1.3184885864273563	0.1873401433276846	1.0	0.8040085647066093	7	O14979,P02545	2
Proximal upper limb amyotrophy	0.6019123704358808	1.3184885864273563	0.1873401433276846	1.0	0.8040085647066093	7	O14979,P02545	2
Dysostosis multiplex	0.5744043317340972	1.318385855577987	0.1873745132815989	1.0	0.8040085647066093	9	P54802,P16278	2
Widely spaced incisors	0.6645875133193551	1.3180279782089577	0.1874942822108081	1.0	0.8040085647066093	5	P46100	1
Ureteral duplication	0.6341214623571884	1.3165421747285673	0.1879921326444147	1.0	0.8040085647066093	6	O75844,P23786,P02545	3
Orthostatic hypotension due to autonomic dysfunction	0.5738143379898378	1.315321193077899	0.1884019784644723	1.0	0.8040085647066093	9	P07602,P04062,O43681	3
Achilles tendon contracture	0.5359898405512878	1.315148948851941	0.1884598485382431	1.0	0.8040085647066093	11	P50402,Q08J23,P02545	3
Abnormal sweat gland morphology	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Prominent umbilicus	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Patchy alopecia	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Severe failure to thrive	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Stiff skin	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Aplasia hypoplasia of the colon	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Epidermal hyperkeratosis	0.9008803390935758	1.3140932040038578	0.1888148408768377	1.0	0.8040085647066093	2	P02545	1
Abnormal speech prosody	0.5873300821206772	1.3128884398905978	0.189220542792341	1.0	0.804587186685516	8	P03915,P00846	2
Cutis laxa	0.4288071016339929	1.305913438421769	0.1915819960681364	1.0	0.8118542751195329	27	P51812,Q9Y487	2
Middle age onset	0.5714224906155052	1.3028928744799515	0.1926113369392075	1.0	0.8148390387985806	9	P07602	1
Abnormal urine protein level	0.396297320686159	1.2998370077400403	0.1936568385980568	1.0	0.8182217537153031	50	P35670,Q8N1F7,P35579,Q14C86,Q14108,P03915,P09601,P06280,O75431,P57740,Q8NFH4,Q12769,P21912,O43707,P00403,Q03252,P04062	17
Neoplasm of the adrenal cortex	0.6594108288255198	1.2953743642799085	0.1951911171181928	1.0	0.820508932470528	5	P48735,O75874	2
Widow s peak	0.7182232357894451	1.2940152322721006	0.1956601594079712	1.0	0.820508932470528	4	O15344,P98172	2
Hemifacial spasm	0.7182229842040518	1.2940141978724131	0.1956605166980978	1.0	0.820508932470528	4	Q969G3,Q10713	2
Impaired vibratory sensation	0.427088490770963	1.293506694899358	0.1958358700649938	1.0	0.820508932470528	28	Q9NR77,O14773,P00846	3
Axial dystonia	0.8965112858828233	1.292880627623557	0.1960523486374874	1.0	0.820508932470528	3	Q99720	1
Abnormal basal ganglia mri signal intensity	0.425788369126928	1.288526065693409	0.1975629013582696	1.0	0.8213181015593907	30	P16278,P00846,Q96CU9,Q8NI60,Q9BPX6	5
Barrel shaped chest	0.7168522132420867	1.2883781320206211	0.1976143671968433	1.0	0.8213181015593907	4	Q32P28,P04066	2
Serositis	0.4720811202943657	1.2866373073943214	0.1982207338669965	1.0	0.822516664140901	17	Q8N1F7,P14174,Q14C86,Q8NFH4,P57740,O43707,O15460	7
Parkinsonism	0.4258308314389213	1.2827792993163458	0.1995694084862851	1.0	0.8253623935389018	24	P07602,P04062,P35637,Q15043,P17480,P61457,Q99720	7
Dysphasia	0.470860337150783	1.278382601743819	0.2011145555377256	1.0	0.8284827663418344	17	P53701,P21964,P46100	3
Generalized lipodystrophy	0.89204174820613	1.2764631051084698	0.2017918610418008	1.0	0.8305212942696901	3	O75844,P02545	2
Thoracic kyphoscoliosis	0.6252421455798989	1.275729308880348	0.2020512242087153	1.0	0.8308375542891349	6	O75844,P02545	2
Axial muscle weakness	0.7127618201942842	1.271559126286723	0.2035298071011735	1.0	0.8346555693013891	4	Q8TD16,P02545	2
Abnormality of the peripheral nervous system	0.3645720808375444	1.2708406332763786	0.203785349942184	1.0	0.834909345052197	95	Q9NR77,P04062,P20700,P02545,P21964,P39210,P41227,P42892,P46100,Q10713,O00592,P07602,Q15067,Q9UBB4,P50570,Q96EK5,O95831,P41440,Q9H4A3,O15121,P06280,P07196,Q99720,O43681	24
Slurred speech	0.5920156503293976	1.270354109742066	0.2039585219020305	1.0	0.834909345052197	7	Q9Y487	1
Hypoplastic fingernail	0.4789573337127897	1.2669970243049398	0.2051563539000902	1.0	0.8370290345520552	15	Q969G3,Q14739,O60826,O75431,O14497,P51812,Q92785,Q15149	8
Laryngomalacia	0.4781457516459594	1.2617141022111176	0.2070516805906974	1.0	0.8415003905872884	15	P07602,P21964	2
Polydactyly	0.4078335681761269	1.2612121795422524	0.2072324116538555	1.0	0.8415003905872884	43	Q7Z4L5,Q10713,O60826,P61978,P21964,Q15067,O00459,P98175,Q00577,O43924,Q9H3P2,P98172,Q9UHX1,O96028	14
Micromelia	0.4444176744721586	1.2598696272058914	0.2077163970906155	1.0	0.8427139389986469	21	Q7Z4L5,Q15392,P48735,Q96HY6	4
Lagopthalmos	0.8869741836118112	1.2578576458890265	0.2084432434816134	1.0	0.8434076838473817	3	P02545	1
Aphasia	0.4174742439540666	1.256810090255413	0.2088224114166297	1.0	0.8434424283660146	36	Q9UGU0,P53701,P03915,P21964,Q9H9P8,P00403,P46100,P22626,Q7LGA3	9
Tapered finger	0.41605420580275	1.2542085004128116	0.209766231000974	1.0	0.8450797461813374	37	Q96EK5,Q06136,P23786,P51812,Q9NSE4,P42892,P46100,Q03252,Q03164	9
Incomplete penetrance	0.4217719724237581	1.2522303412190408	0.2104859431025776	1.0	0.8466004789601692	29	Q969G3,P03915,Q14671,P00846,O14979,P21912,P36551,O43707,Q8WWY3,Q9UBB4,P50995	11
Chromosomal breakage induced by ionizing radiation	0.7076235131548484	1.2504306929830555	0.2111422583230415	1.0	0.8482961693614168	4	Q969G3	1
Abnormality of subcutaneous fat tissue	0.4758600618224815	1.24683135161518	0.2124593422012524	1.0	0.8495371165673896	15	O75844,Q9Y487,O75431,P02545	4
Abnormality of the upper respiratory tract	0.360858567163499	1.245940171179927	0.2127863607352667	1.0	0.8495371165673896	93	P28070,P07602,Q92804,P54802,P16278,P35637,P02545,P21964,Q03519,Q13510,P00813,Q15165,Q96HY6,P46100,O15460	15
Aplasia hypoplasia involving the femoral head and neck	0.586763723213342	1.244779760427933	0.213212717842083	1.0	0.8498636529046953	7	O95831,Q96HY6	2
Myoclonic seizure	0.3824136100522684	1.2420932324661742	0.2142021652065993	1.0	0.8519435435532059	53	P07602,P16278,O75503,P03915,Q9UPT5,Q13510,P00846,Q01105	8
Abnormality of the mitochondrion	0.3595476430435452	1.2403449359540213	0.214847838397872	1.0	0.8519435435532059	92	Q9Y2R0,P35637,O43772,P03915,P23786,P00846,O43676,Q96CU9,O96000,P00403,Q9Y584,Q70HW3	12
Dermatological manifestations of systemic disorders	0.3368732829637834	1.239041620636951	0.2153300849557937	1.0	0.8519435435532059	67	P02545,O43772,O14936,P39210,P98175,P46100,P40855,Q15904,O75381,O75844,P36551,Q6NUQ1,Q16625,P04066,P56589,P51812,P00374,Q01082,P35670,O15118	20
Areflexia	0.352293263085478	1.237311906910001	0.2159713090922657	1.0	0.8519435435532059	84	Q9NR77,O43819,P51114,O95721,Q8TD16,P02545,P39210,Q13586,Q16637,Q15067,Q13510,Q9Y5P6,Q92734,P50570,O95831,P41440,P06753,Q9H6K4,P56589,O75477,Q8NAT1,Q9H4A3,Q9BT22,Q15149,Q13217,P61978,P10253,P07196,O43505,Q9BQT8	30
Polar cataract	0.88134726730651	1.2372114271055132	0.2160086002853409	1.0	0.8519435435532059	3	P08670	1
Dental crowding	0.4346104417392977	1.237184035797117	0.2160187668593929	1.0	0.8519435435532059	22	P02545,P06753,O75431,Q96A33,Q01105,O75844,P51812,Q15233	8
Anteriorly placed anus	0.5405056272046765	1.234438761665635	0.2170394527489225	1.0	0.8531637209957645	10	P53701,P16435	2
Abnormal sharpey fiber morphology	0.6159745872667797	1.2330876723077682	0.2175430562866736	1.0	0.8531776986615054	6	P35670,P53680,P02545	3
Abnormality of skeletal muscle fiber size	0.4587768884583353	1.2325925409365113	0.217727821224763	1.0	0.8531776986615054	18	O95831,P02545,P06753,P22626,Q9BPX6	5
Limb joint contracture	0.3629822786552548	1.2297736597547848	0.2187818744709035	1.0	0.8541124293238019	97	Q9NR77,Q8TD16,P02545,Q99567,P41227,P21912,P42892,Q8IZA0,P98172,Q08J23,Q7LGA3,P35637,O00459,O75844,Q9Y5P6,Q15392,P06753,P16435,P37268,P07196,P23786,P50402,Q86XL3,Q99720	24
Broad phalanx of the toes	0.6148775167788727	1.2280376342629766	0.219432840687435	1.0	0.8559197007790954	6	P98172,O14936,Q7LGA3	3
Oculomotor apraxia	0.4261268611324647	1.226332879630402	0.2200734330725815	1.0	0.8576834480705404	23	Q10713,O43924,Q9NQT5,O14773,P04062	5
Abdominal distention	0.4520922388970312	1.2254140313693964	0.2204192628897476	1.0	0.8577432595376719	19	P07602,Q01844,Q96HY6,P04062	4
Acetabular dysplasia	0.5565127457011736	1.2252908770468522	0.2204656444769499	1.0	0.8577432595376719	9	P16278	1
Increased adipose tissue	0.877313569082811	1.222420680527922	0.2215485826042211	1.0	0.8591333973937327	3	P02545	1
Extrapyramidal muscular rigidity	0.6426329135716452	1.221893135660734	0.2217480416272921	1.0	0.8591333973937327	5	Q9H6K4,Q9BPX6	2
Morphological abnormality of the pyramidal tract	0.4325191005117769	1.2213701777058974	0.2219458933290825	1.0	0.8591333973937327	22	O95831,P35637,P00846	3
Chondrocalcinosis	0.6425078292358886	1.221345119477275	0.2219553768310698	1.0	0.8591333973937327	5	P35670,P53680,P02545	3
Supernumerary bones of the axial skeleton	0.69988172939597	1.2186005979787111	0.2229958219857355	1.0	0.8593692065395517	4	Q9UHX1	1
Fetal akinesia sequence	0.6418403934726719	1.218420951270835	0.2230640473620422	1.0	0.8593692065395517	5	Q99567,P04062	2
Aortic valve calcification	0.8760600130463112	1.2178259585242768	0.2232901175446597	1.0	0.8593692065395517	3	O75844,P02545	2
Mitral stenosis	0.8760600130463112	1.2178259585242768	0.2232901175446597	1.0	0.8593692065395517	3	O75844,P02545	2
Abnormal caudate nucleus morphology	0.53740708168594	1.217588080737775	0.2233805461361875	1.0	0.8593692065395517	10	Q9BVA1,P00846,O75306	3
Glomerular sclerosis	0.4171570764621832	1.2170161435993974	0.2235980736896685	1.0	0.8593692065395517	30	Q8N1F7,Q14C86,Q14108,P03915,Q8NFH4,O75431,P21912,P00403	8
Tongue atrophy	0.6409006085803052	1.2143035304253875	0.2246318380051066	1.0	0.8593692065395517	5	P07196	1
Intestinal hypoplasia	0.6979620057117403	1.210709233708228	0.2260068622741178	1.0	0.8594758701841576	4	O75844,P02545	2
Stroke like episode	0.6110158740671059	1.210258971694392	0.2261795357582372	1.0	0.8594758701841576	6	P00403	1
Spastic paraparetic gait	0.6978409226692408	1.2102115282058656	0.2261977356064632	1.0	0.8594758701841576	4	Q15043,P34897	2
Retinal hemorrhage	0.6108487096711053	1.2094892786051512	0.2264749276169313	1.0	0.8598114015948887	6	Q9Y487	1
Decreased ldl cholesterol concentration	0.6969800522458259	1.2066730683742188	0.2275580747651258	1.0	0.8602113551070241	4	Q15800	1
Coxa vara	0.5028889739252019	1.2037642424586967	0.2286807139602762	1.0	0.8602113551070241	12	O95831,Q9Y487	2
Perseveration	0.6384595341520836	1.203608520781731	0.2287409245645153	1.0	0.8602113551070241	5	P35637	1
Calvarial skull defect	0.6083636859842625	1.19804657303096	0.2308988863970054	1.0	0.8602113551070241	6	Q14739,O96028,Q9H3P2	3
Proportionate short stature	0.4143039461810817	1.196869245080588	0.2313575232153004	1.0	0.8602113551070241	31	P53701,Q15392,P16278,P10619	4
Recurrent viral infections	0.471939357860379	1.1942098886205843	0.2323958759070159	1.0	0.8602113551070241	14	P00813	1
Neoplasm of the nervous system	0.3968683027030968	1.1938212059847688	0.2325479146309064	1.0	0.8602113551070241	45	Q969G3,P02545,Q07954,P21912,Q9H9P8,Q01844,O43924,P20585,P46100,P48735,P78549	11
Ambiguous genitalia	0.4531113855778838	1.193423678229604	0.2327034862407333	1.0	0.8602113551070241	18	P53701,Q15392	2
Abnormality of the temporomandibular joint	0.8691445413877212	1.1924954428328562	0.2330670365780451	1.0	0.8602113551070241	3	P02545	1
Protruding tongue	0.5324358265074259	1.1905394316504128	0.2338344413377817	1.0	0.8602113551070241	10	P46100,P20700,Q10713,O60826	4
Dilated cardiomyopathy	0.4105765090103309	1.1885364560952958	0.2346221258056866	1.0	0.8602113551070241	35	P53701,P16278,P03915,P23786,P00846,P00403	6
Secondary growth hormone deficiency	0.6921985020604482	1.1870231210796005	0.2352185006409037	1.0	0.8602113551070241	4	Q969G3	1
Tube feeding	0.3513286197225156	1.1867519156795951	0.2353254905075095	1.0	0.8602113551070241	61	P07602,Q15233,P37268,P35637,P61978,P17480,Q01105,Q96N66,O15121,Q99720,Q08J23,Q9UHX1	12
Hamartomatous polyposis	0.8682751874796211	1.1857003909136723	0.2357406401213508	1.0	0.8602113551070241	2	P21912	1
Abnormality of the autonomic nervous system	0.3848923834720027	1.1853857302878783	0.2358649710952811	1.0	0.8602113551070241	50	P07602,Q96EK5,P20700,P41440,Q10713,O43681,P21964,P06280,Q15067,P41227,P42892,P46100,P04062,O00592	14
Abnormal tricuspid valve morphology	0.4993595561234575	1.1829120994477689	0.2368439858852393	1.0	0.8602113551070241	12	P51812,P21964	2
Abnormality of the pubic bone	0.6337175131395001	1.182833117615529	0.2368752926029489	1.0	0.8602113551070241	5	Q8IZA0,Q9H3P2	2
Frequent falls	0.4077150827867546	1.1810023247636687	0.2376017997766921	1.0	0.8602113551070241	37	Q9NR77,P07602,P00846,Q13510,P21912,P04062,O43681	7
Male pseudohermaphroditism	0.8659687605246333	1.1808735621369766	0.2376529553803905	1.0	0.8602113551070241	3	P53701	1
Abnormality of the nasal tip	0.3615893314946274	1.1808672512083578	0.2376554628246738	1.0	0.8602113551070241	100	Q9UGU0,P02545,P21964,O14936,Q96A33,O43924,P42892,P46100,Q7LGA3,Q9UHX1,Q9Y487,Q92796,O75844,Q96EK5,O95831,O75431,P51812,P38159,Q03164,Q969G3,P16278,P61978,P23786,Q00577	24
Hypertriglyceridemia	0.4270300845886638	1.1798421403696795	0.2380630056751356	1.0	0.8602113551070241	22	P28070,P22830,O75431,P02545	4
Carcinoid tumor	0.6896792122801418	1.1766730958129843	0.2393260102218906	1.0	0.8602113551070241	4	P46100	1
Emphysema	0.5470542634037838	1.1759744274868815	0.239605095109153	1.0	0.8602113551070241	9	Q03519,P02545	2
Diarrhea	0.3392053409133711	1.1748040370396653	0.2400731246583163	1.0	0.8602113551070241	75	P54802,P03915,P39210,Q13510,P00813,Q13423,P00403,P42892,P46100,Q08J23	10
Decreased activity of mitochondrial complex i	0.4098006280734536	1.1746826485913766	0.2401217037587804	1.0	0.8602113551070241	34	O43676,Q96CU9,O96000,Q9Y584,Q70HW3	5
Psoriasiform dermatitis	0.6884862181925075	1.1717727754690546	0.2412882957003495	1.0	0.8602113551070241	4	Q15800	1
Neck flexor weakness	0.8633762578187005	1.1713916431969222	0.2414413897902159	1.0	0.8602113551070241	3	Q99720	1
Vegetative state	0.8633702250538979	1.1713695846647258	0.2414502524050648	1.0	0.8602113551070241	3	P07602	1
Progressive peripheral neuropathy	0.8633702250538979	1.1713695846647258	0.2414502524050648	1.0	0.8602113551070241	3	P07602	1
Abnormal gallbladder morphology	0.4116074774991972	1.170982687206463	0.2416057362089587	1.0	0.8602113551070241	30	P07602,P21964,P22830,Q96A33,P04062,O43681	6
Elevated circulating long chain fatty acid concentration	0.8643625692859471	1.1703630103493352	0.2418549146667801	1.0	0.8602113551070241	2	P23786	1
Abnormal intraocular pressure	0.6020370590759989	1.1689111717399567	0.2424394219584837	1.0	0.8602113551070241	6	Q15043,P04439	2
Agitation	0.4098033282765334	1.1685683586152131	0.2425775827002432	1.0	0.8602113551070241	33	Q96CV9,Q92804,P35637,O96008,P35610,Q15165,P42892,P50995,P48449,Q01082,P04062,O00592	12
Abnormal circulating porphyrin concentration	0.6875137037653939	1.167778541170271	0.2428961060833678	1.0	0.8602113551070241	4	P36551,P22830	2
Supraventricular tachycardia	0.6015808076959475	1.1668099730116828	0.2432871186018275	1.0	0.8602113551070241	6	P41227,Q14BN4,P02545	3
Biliary tract neoplasm	0.6872272577501799	1.16660215255188	0.2433710736623973	1.0	0.8602113551070241	4	P07602	1
Neoplasm of the gallbladder	0.6872272577501799	1.16660215255188	0.2433710736623973	1.0	0.8602113551070241	4	P07602	1
Elevated diastolic blood pressure	0.8620802086729848	1.161424866508857	0.2454691613556958	1.0	0.8602113551070241	2	P42892	1
Elevated systolic blood pressure	0.8620802086729848	1.161424866508857	0.2454691613556958	1.0	0.8602113551070241	2	P42892	1
Elevated mean arterial pressure	0.8620802086729848	1.161424866508857	0.2454691613556958	1.0	0.8602113551070241	2	P42892	1
Respiratory distress	0.3824723281449749	1.1610674817471796	0.2456144576804342	1.0	0.8602113551070241	50	P07602,O95831,P53701,P10253,P03915,P23786,Q13510,P00846,Q00577,P16219,Q9UHX1	11
Rectal prolapse	0.5571430156260162	1.160939048432694	0.2456666875305648	1.0	0.8602113551070241	8	P51812	1
Acute hepatic failure	0.4623061955652858	1.1584821758163144	0.2466673213605308	1.0	0.861065680086761	15	Q6NUQ1,P39210	2
Disturbance of facial expression	0.5996236366220592	1.157796582194299	0.2469470584813353	1.0	0.8613816170168878	6	Q9NR77	1
Bruising susceptibility	0.4092561145754101	1.1546700242346597	0.2482255792560119	1.0	0.8643401771968574	31	Q14108,Q13126,Q9NWM8,P46100	4
Hypoplastic fifth fingernail	0.5669310049180873	1.148083198447152	0.2509342194807917	1.0	0.8708671359681839	7	O14497,Q969G3,Q92785	3
Distal peripheral sensory neuropathy	0.6253615624158404	1.146233327820955	0.2516986213333516	1.0	0.8708671359681839	5	P00403	1
Dyschromatopsia	0.5663898045302695	1.1454431142413974	0.2520256472108682	1.0	0.8708671359681839	7	Q9H061	1
Severe muscular hypotonia	0.4082723914231273	1.1433069042282438	0.2529111894361722	1.0	0.8708671359681839	30	P40855,O95831,Q8TD16,P02545,P06753,O75381,P56589,Q01105,Q00577,Q9NWM8	10
Delayed menarche	0.596448536212751	1.1431748988216988	0.2529659818444094	1.0	0.8708671359681839	6	P02545	1
Retrocollis	0.8551859099804218	1.141471308384021	0.2536738451279743	1.0	0.8708671359681839	3	P35637,Q99720	2
Soft tissue sarcoma	0.4079256660573937	1.14042937993994	0.254107458533015	1.0	0.8708671359681839	30	Q07954,Q15392,Q13126,Q969G3	4
Ocular pain	0.6806787393955891	1.1397195697950235	0.2544031513935485	1.0	0.8708671359681839	4	Q15043	1
Inverted nipples	0.5398207575188344	1.1382328553788688	0.2550232627956039	1.0	0.8708671359681839	9	P61978,Q15067,P56589	3
Pain	0.4099111266257284	1.1363519182864068	0.2558093101902257	1.0	0.871735405701703	171	Q9NR77,P14174,Q14C86,P02545,Q15043,P21964,O14936,P00846,P21912,O43707,Q96HY6,P42892,P46100,O15460,P07602,P35637,Q14108,Q13510,O75844,Q15165,Q03252,Q15800,Q70HW3,P28070,P50570,Q9H6K4,Q8NFH4,Q13423,P22626,P35670,Q8N1F7,Q969G3,Q92804,Q07954,P23786,Q14566,P50402,Q01844,P48735,P04062	40
Abnormality of lysosomal metabolism	0.6793470625444257	1.1342557761636891	0.2566872737922905	1.0	0.8726951040921391	4	P07602	1
Limb girdle muscle weakness	0.4074227444706952	1.1342042945967403	0.2567088630007412	1.0	0.8726951040921391	25	P07602,Q13126,Q8TD16,P02545,O14979	5
Corneal opacity	0.3794593616071046	1.130783234780262	0.2581463380155511	1.0	0.8754453621323101	50	P02545,P40855,O75381,Q13510,O75844,Q16625,O75569,O96028,P04066,P56589,Q8NAT1,Q9H3P2,P35670,P53701,P16278,Q06136,P06280,O43505,P10619,P04062	20
Dicarboxylic aciduria	0.40656052110954	1.1294761325423406	0.2586970324280619	1.0	0.8754453621323101	24	Q9H9P8,P23786,P48735,O43772	4
Limb girdle muscular dystrophy	0.5381331407628734	1.1294258430524151	0.2587182361130749	1.0	0.8754453621323101	9	O14979,P02545	2
Papillary thyroid carcinoma	0.5380502238170826	1.1289931232680428	0.2589007346197391	1.0	0.8754453621323101	9	O14497,Q969G3,Q12824,Q92785	4
Limited wrist movement	0.6205075638071431	1.1249821325563538	0.2605966057377702	1.0	0.8756316102508557	5	O75844,P02545	2
Progressive spasticity	0.4527897338513738	1.1244795414502726	0.2608096448664212	1.0	0.8756316102508557	16	P51812,P07602,O15121	3
Delayed closure of the anterior fontanelle	0.4892415778204945	1.123105994606231	0.2613924804833027	1.0	0.8756316102508557	12	P51812,Q9Y487	2
Cerebral palsy	0.5016730690821539	1.1198764201028015	0.2627664278564738	1.0	0.8756316102508557	11	Q9BVA1,P98175,P61457,P48735,Q01082	5
Visual field defect	0.3870817553399833	1.1192098145958085	0.2630506393576373	1.0	0.8756629896801542	46	Q969G3,Q9H061,O75381,Q9BVA1,Q9H6K4,P03915,P00846,P56589,P00403,O15460	10
Head tremor	0.4747644946510687	1.11895208203304	0.2631605821358636	1.0	0.8756629896801542	13	P07196,Q99720	2
Somatic sensory dysfunction	0.3557150653260452	1.1180629636668835	0.2635401029677167	1.0	0.8757450791615342	99	Q9NR77,P20700,P02545,P39210,P00846,O15460,Q96BR5,P07602,Q8IV08,P17480,P50570,O95831,P41440,Q9H6K4,Q9NSE4,Q9H4A3,O14773,P54802,Q13217,P61978,P06280,P07196	22
Prominent nasal bridge	0.3847804185783429	1.1166347461769626	0.2641505288442649	1.0	0.8764629301142954	47	P78318,Q96EK5,P20700,P21964,O14936,P49366,Q8WVM7,O43924,P42892,Q08J23,Q15233	11
Infectious encephalitis	0.5180821440625759	1.112383928573936	0.2659731116875599	1.0	0.8773904615142284	10	P46100	1
Decreased light and dark adapted electroretinogram amplitude	0.8471478085366178	1.1121661203936462	0.2660667318294338	1.0	0.8773904615142284	3	P50897	1
Hyperlipidemia	0.4044648652001225	1.1117068463900144	0.2662642151775873	1.0	0.8773904615142284	30	P28070,P02545,P22830,O75431,P23786,O75844,P50402,O43707	8
Abnormal glomerular mesangium morphology	0.4508648294619633	1.1116836023836678	0.2662742125551878	1.0	0.8773904615142284	16	Q8N1F7,Q14C86,Q8NFH4,P57740,P00813,O43707	6
Increased circulating lactate dehydrogenase concentration	0.4870735977981304	1.110289405063946	0.2668743371497153	1.0	0.8777543227640925	12	P10253,P23786,P41440	3
High myopia	0.5175096233145997	1.1092659181866842	0.2673154832050841	1.0	0.8780281449909485	10	Q9Y487	1
Steppage gait	0.4298415652902798	1.108010084492141	0.267857460702481	1.0	0.8790349869703171	20	Q9NR77,P07196,P02545	3
Abnormality of the vasculature of the eye	0.3318774742148633	1.1054815731463383	0.268950974600975	1.0	0.8790349869703171	73	P28070,P07602,P16278,P06865,P21964,Q13510,P00846,P10619	8
Weight loss	0.3281374561108789	1.104886187841752	0.2692089080784599	1.0	0.8790349869703171	69	P35670,P07602,P02545,P35637,Q06136,O75844,Q13423,P42892,Q01844,P46100,Q99720,O15460,P04062	13
Somatic mutation	0.3940569772732367	1.1043323157126566	0.2694490095655442	1.0	0.8790349869703171	41	Q92804,Q93052,P00813,P11717,P46100,Q01844	6
Cns demyelination	0.4721252982522316	1.1027315970315008	0.2701437409435185	1.0	0.8790349869703171	13	P07602,Q9H9P8,Q15067	3
Hyporeflexia	0.3690347790957993	1.1018692596804422	0.2705185145357101	1.0	0.8790349869703171	117	Q9NR77,P04062,Q8TD16,P02545,Q9BUK6,P39210,P00846,Q96BR5,Q10713,O00592,P07602,P35637,Q15067,O14979,Q9UBB4,P50570,O95831,P41440,P06753,Q9NSE4,Q8NAT1,Q9H4A3,P54802,Q96F07,P03915,P07196,O43505,Q99720,O43681	29
Abnormality of skull ossification	0.4855761860453466	1.1014373241053128	0.2707063685434772	1.0	0.8790349869703171	12	Q32P28,Q14739,P54802,P02545,O75844	5
Limb muscle weakness	0.3369987791625105	1.101360737688368	0.2707396862329492	1.0	0.8790349869703171	79	Q9NR77,P35670,P50570,Q13126,Q969G3,P02545,P07196,P39210,Q15067,P00846,Q13510,P50402,Q9BQT8,Q96BR5,Q99720	15
Delusions	0.4391550502844848	1.0968662965624347	0.2726998438532102	1.0	0.8816261997299808	18	P07602,P21964,P36551,P04062,O43681	5
Tetraplegia	0.4705059580943811	1.0927798487927878	0.2744904712904468	1.0	0.8828130272771877	13	O95831	1
Ureterocele	0.6688417618270672	1.0911964641961895	0.2751864433986641	1.0	0.8828130272771877	4	O14936,Q15149,P09471	3
Arnold chiari type i malformation	0.6685225235124591	1.0898893343911251	0.2757618953746386	1.0	0.8828130272771877	4	Q15043	1
Angina pectoris	0.8405088062622246	1.0880121968335774	0.2765897231313312	1.0	0.8828130272771877	3	O75844,P02545	2
Increased serum pyruvate	0.4002021394992132	1.0870121531417098	0.277031438741677	1.0	0.8828130272771877	33	O95831,P22695,Q96CU9,O96000,Q9BWD1,O43676,Q5JRX3,Q70HW3	8
Oval face	0.583573842557253	1.0839111896950742	0.2784041777926282	1.0	0.8828130272771877	6	O14936,Q9UHX1	2
Dyskinesia	0.3244774852804525	1.0821457984187963	0.2791877482164782	1.0	0.8828130272771877	67	O43819,Q15043,O14936,P00846,P35610,Q08J23,Q9BPX6,O00592,P09471,Q9UBB4,O75569,Q01105,Q96F07,P03915,O75306,Q96N66,Q00577,Q9UBX3,P04062	19
Inability to walk	0.3415970299319876	1.0810371025060446	0.2796806098012183	1.0	0.8828130272771877	86	Q9NR77,P35637,O75503,P61978,P07196,P00846,Q13510,Q96CU9,Q96N66,Q99720	10
Skin dimple	0.4137942066491394	1.0796491343463197	0.2802984527117886	1.0	0.8828130272771877	22	P53701,P61978,P49366,Q9H3P2,Q08J23,Q03164,O96028	7
Long fingers	0.3334528982215867	1.0794189115426924	0.2804010241327521	1.0	0.8828130272771877	77	Q9UGU0,Q96EK5,Q969G3,Q9H3P2,P55795,Q06136,P21964,P23786,P51812,Q9NSE4,P42892,Q03164,Q9H4A3,P46100,Q03252,Q9UHX1,P07437	17
Follicular hyperkeratosis	0.5816944762730809	1.0752661284417848	0.2822555963268072	1.0	0.8828130272771877	6	Q9NWM8	1
Abnormality of the biliary system	0.3597074370850588	1.0752497751615484	0.2822629158655976	1.0	0.8828130272771877	108	P14174,P02545,P21964,P22830,P39210,O14936,Q96A33,P55263,Q10713,P07602,P40855,Q15904,Q14108,P09601,O75381,Q13510,P36551,Q6NUQ1,Q16625,Q5XKP0,O96028,P04066,P56589,P00374,Q9H3P2,Q01082,P35670,O15118,P04062,O43681	30
Mediastinal lymphadenopathy	0.6089877880299852	1.0745964721236283	0.2825554320162928	1.0	0.8828130272771877	5	O15460	1
Autoamputation	0.5518018609732238	1.0742910835128052	0.2826922400913365	1.0	0.8828130272771877	7	P39210,Q9H4A3	2
Aortic valve stenosis	0.5393524166873656	1.0712445012447869	0.2840595069205243	1.0	0.8828130272771877	8	O75844,P04062,P16278,P02545	4
Cold induced muscle cramps	0.8357208314305196	1.0706241874152982	0.28433844337422	1.0	0.8828130272771877	3	Q9NR77	1
Dermal atrophy	0.399693278004498	1.0696497668424654	0.2847769851549313	1.0	0.8828130272771877	27	P53701,P02545,Q07954,Q15392,Q9NWM8	5
Calvarial hyperostosis	0.6075007894134079	1.068099176564766	0.2854757772773899	1.0	0.8828326370461124	5	Q15043	1
Telecanthus	0.3925610367227455	1.0670055112316723	0.2859693472689899	1.0	0.8828326370461124	39	Q96EK5,P02545,O15344,P21964,O00459,O75844,P51812,Q00577,P46100,P98172,Q86XL3,Q08J23,Q03164	13
Painless fractures due to injury	0.8346994247590944	1.0669184968782908	0.2860086415023706	1.0	0.8828326370461124	3	P39210	1
Orofacial dyskinesia	0.5798511121680081	1.0667887188535234	0.2860672538758821	1.0	0.8828326370461124	6	O75569,Q9BPX6	2
Stillbirth	0.4918924821267193	1.064144252355706	0.287263356686154	1.0	0.8857859835397071	11	O75844,P04062,P16435,P02545	4
Myopathic facies	0.5784104637729299	1.060164889891816	0.2890695909972767	1.0	0.888483982592575	6	Q00577,Q9BUK6,P06753	3
Abnormality of the lymph nodes	0.3927629117418129	1.0586725288128134	0.2897489430086426	1.0	0.8890647152581331	38	P28070,P14174,P33991,Q13510,P00813,P46100,O15460	7
Tetraplegia tetraparesis	0.3787890672563696	1.058462864869243	0.2898444721975108	1.0	0.8890647152581331	47	P07602,O95831,P35637,P00846,Q13423,Q9H9P8,Q9UBX3,O43681	8
Esophageal varix	0.6049208603409169	1.0568307978375864	0.290588815873734	1.0	0.8895496233068171	5	P35670	1
Severe global developmental delay	0.3223786776913404	1.055562496730515	0.2911681425633263	1.0	0.8907240490243694	67	Q9UGU0,O00584,O75381,P03915,O14936,Q15067,Q96A33,P00846,P56589,P51812,P07942,Q00577,P55263,O15121,Q7LGA3	15
Heteronymous hemianopia	0.6035376776000181	1.050791891683432	0.2933541806023414	1.0	0.8944442753814401	5	Q969G3	1
Abnormality of the thymus	0.441504789026641	1.0494822878963286	0.2939562029812466	1.0	0.8944442753814401	16	P21964	1
Aplasia hypoplasia of the thymus	0.441504789026641	1.0494822878963286	0.2939562029812466	1.0	0.8944442753814401	16	P21964	1
Transient ischemic attack	0.5348999265870799	1.0488082944834836	0.2942663591887955	1.0	0.8947898911338658	8	O75844,P02545	2
Extra axial cerebrospinal fluid accumulation	0.8324095207042668	1.0459326115673804	0.2955921464334547	1.0	0.8976220484089967	2	Q03252	1
Periorbital fullness	0.4208489772418793	1.043061832319809	0.2969196563749912	1.0	0.8986557684966489	20	Q92796,P51812,P38159,Q7LGA3,P07437	5
Optic nerve hypoplasia	0.431266812528799	1.042309857920534	0.2972680434142218	1.0	0.898670046590976	18	P61978,P37268,P07196,Q9UHX1	4
Thick eyebrow	0.3853225449066801	1.0376716852768104	0.299422931478464	1.0	0.8995783482885823	42	Q96EK5,O95831,O60885,Q969G3,Q16531,P04066,O14497,P51812,Q12824,P98175,P15586,Q9NSE4,Q92785,Q03164,Q08J23,Q01082,Q9Y4W2,Q9UHX1	18
Abnormal atrioventricular valve morphology	0.3942226243730725	1.0321463189829243	0.3020035780047261	1.0	0.9001333590422982	32	Q15233,P53701,P55795,P02545,P06753,P21964,O75431,O75844,P51812,P04062	10
Agenesis of lateral incisor	0.8278447994783171	1.0283026461306115	0.3038074867294815	1.0	0.9001333590422982	2	Q12959	1
Pseudoarthrosis	0.5983518438375621	1.0281675285850729	0.3038710299337834	1.0	0.9001333590422982	5	O75844,P02545	2
Anarthria	0.5422928277702094	1.02795473811367	0.3039711191329166	1.0	0.9001333590422982	7	Q99720	1
Optic disc coloboma	0.8238747553816043	1.0277320934324243	0.3040758668481418	1.0	0.9001333590422982	3	P78318,P41227	2
Abnormality of the musculature of the thigh	0.5305825443016011	1.0270638958008822	0.3043903779306751	1.0	0.9001333590422982	8	O14979,P07196,P02545	3
Underdeveloped supraorbital ridges	0.4728996968395541	1.0265359871737456	0.3046390096597913	1.0	0.9001333590422982	12	P40855,O75381,P56589,P98175,Q08J23	5
Abnormality of temperature regulation	0.3517021952028091	1.0265239392513013	0.3046446855022231	1.0	0.9001333590422982	103	Q9NR77,P14174,Q14C86,O43772,O14936,P00846,P00813,O15460,P07602,Q13510,P28070,P50570,Q8NFH4,P00403,Q8N1F7,P61978,P03915,P10253,P23786	19
Abnormality of the intervertebral disk	0.597377712307279	1.0239208460555862	0.3058726631324657	1.0	0.9001333590422982	5	P02545	1
Abnormal prostate morphology	0.570408845870019	1.0234042999202169	0.3061167271905249	1.0	0.9001333590422982	6	O60934,P25054,Q8IWS0	3
Meningitis	0.5290766985521412	1.0194829109348011	0.3079737620973999	1.0	0.9001333590422982	8	O15460,P02786	2
Inappropriate behavior	0.4408895076405125	1.0188396336546224	0.3082791062955179	1.0	0.9001333590422982	15	P07602,P46100	2
Abnormal ilium morphology	0.4315744640744458	1.012236596830539	0.3114249418770323	1.0	0.90338250100007	17	P51812,O95831	2
Abnormal chorioretinal morphology	0.3924544899838785	1.0121942829041066	0.3114451692110915	1.0	0.90338250100007	26	P40855,P53701,O60826,O75381,O14936,O43505,P04439,P56589,P41227,Q8NAT1,Q5XKP0,Q10713	12
Lipid accumulation in hepatocytes	0.3198101778651878	1.0112685560474204	0.3118879114005679	1.0	0.90338250100007	68	P35670,Q8N511,P02545,O43772,P23786,P39210,Q15067,O75431,Q6NUQ1,P55263,Q03252,P16219	12
Abnormality of the supraorbital ridges	0.4043640518498236	1.008321189045232	0.3133002939677984	1.0	0.90338250100007	22	P40855,O75381,P56589,P38159,P51812,P98175,Q08J23	7
Short lingual frenulum	0.81849182274587	1.0083087447661323	0.3133062661961641	1.0	0.90338250100007	3	P02545	1
Overtubulated long bones	0.81849182274587	1.0083087447661323	0.3133062661961641	1.0	0.90338250100007	3	P02545	1
Cognitive impairment	0.390474613692532	1.007861231623871	0.313521085425622	1.0	0.90338250100007	157	P04062,P20700,P21964,P00846,P21912,P27544,Q10713,O00592,P07602,P40855,P35637,Q14108,Q9Y487,O75381,Q9BVA1,P17480,P50897,Q13510,Q9Y5P6,Q9UBB4,Q5XKP0,O75569,Q9Y2R0,O95831,O75503,Q9H6K4,P57740,P56589,P00403,Q03164,Q01082,P22626,P35670,Q969G3,P54802,P16278,Q96F07,Q13217,P06865,P03915,P07196,P06280,O96008,O75306,O15118,Q9UEY8,Q6DKK2,Q99720,O43681	49
Increased circulating antibody level	0.4306597394626732	1.0060469770425278	0.3143929728616976	1.0	0.90338250100007	17	P00813,Q14108	2
Abnormal sacrum morphology	0.3916342965863163	1.0042531849977727	0.3152565924882926	1.0	0.90338250100007	27	P53701,P61978,P04066,P49366,Q9H3P2,Q8TAA9,Q08J23,Q03164,O96028	9
Recurrent pancreatitis	0.817148910202881	1.003470199314049	0.3156340484525874	1.0	0.90338250100007	3	P00403	1
Abnormal thyroid morphology	0.3883366755018976	1.003150930121481	0.3157880445427485	1.0	0.90338250100007	36	Q969G3,P02545,P00813,P21912,P42892,P48735	6
Limb girdle muscle atrophy	0.4420950697170011	1.0031491905102023	0.3157888837608189	1.0	0.90338250100007	14	O14979,P50402,P02545	3
Corneal erosion	0.5924910290039078	1.0026344865120602	0.3160372500433093	1.0	0.90338250100007	5	P39210	1
Corneal ulceration	0.5923644962576492	1.002083706518642	0.3163031665065938	1.0	0.90338250100007	5	O75844,P02545	2
Concentric hypertrophic cardiomyopathy	0.8163647297627791	1.0006461372148836	0.3169979163040151	1.0	0.90338250100007	3	P00403	1
Abnormally lax or hyperextensible skin	0.3838268320875191	0.9994258294062324	0.3175884525829942	1.0	0.90338250100007	40	P04062,Q9Y487,P41227,O96000,P51812,Q9NWM8,Q9UHX1,P07437	8
Progressive cerebellar ataxia	0.3858571180769297	0.9975026536816686	0.3185205863655542	1.0	0.90338250100007	38	P41440,P35637,Q9Y487,Q96CU9,O14773	5
Decreased adipose tissue	0.4373598751143457	0.9958623042030258	0.3193170530169542	1.0	0.90338250100007	15	O75844,O75431,P02545,Q03252	4
Pain in head and neck region	0.5356162297794586	0.9954617010686524	0.3195117624738741	1.0	0.90338250100007	7	Q15043,Q969G3,P29992	3
Progressive external ophthalmoplegia	0.4964520410106564	0.9946709458292632	0.3198963297103976	1.0	0.90338250100007	10	P03915,P00403	2
Abnormal visual fixation	0.5353351250849483	0.9940946102833208	0.3201768090673982	1.0	0.90338250100007	7	Q5KU26,Q13510	2
Macular degeneration	0.4406074463726873	0.993643105823007	0.3203966504384128	1.0	0.90338250100007	14	P50897,P04439,Q13510,Q8WWY3,P04062	5
Abnormality of the knee	0.3328588828546599	0.9934712102860976	0.3204803737693091	1.0	0.90338250100007	84	Q9NR77,P37268,O95831,Q8TD16,P16278,P06753,P21964,P23786,O75431,O00459,Q13510,P21912,Q9NSE4,Q96HY6,P46100,Q86XL3,Q7LGA3	17
Pigmentary retinopathy	0.3804631999926145	0.9929655117629016	0.3207267618800515	1.0	0.9034333045037096	42	P53701,Q9BUK6,P03915,Q15067,P00846,O75306,Q96CU9,P21912,Q9Y5P6,Q9UG56,P00403	11
Beaking of vertebral bodies	0.5109999379205371	0.9879228579643482	0.3231904298308814	1.0	0.9047316197866264	9	P16278	1
Positional foot deformity	0.3375810930201118	0.9871605131155604	0.323563956112245	1.0	0.9047316197866264	90	Q9NR77,Q9H3P2,Q8TD16,P02545,P06753,P61978,Q9Y487,P21964,P07196,Q96A33,P32929,P98175,Q6NUQ1,Q8NI60,P46100,Q15392,Q9NWM8,Q9UHX1	18
Exaggerated startle response	0.5225786442142495	0.9867927895163028	0.3237442302642823	1.0	0.9047316197866264	8	P06865,P16278	2
Congenital muscular dystrophy	0.8167590479295788	0.9856732588416878	0.3242934758602029	1.0	0.9047316197866264	2	P02545	1
Decreased pulmonary function	0.6428523987011626	0.9851508502524154	0.3245499788211443	1.0	0.9047316197866264	4	Q12824,Q969G3	2
Abnormality of the pharynx	0.3711382969083733	0.984241826154324	0.3249966250341507	1.0	0.9047316197866264	47	P54802,P16278,P21964,Q03519,Q13510,P00813,O15460	7
Scanning speech	0.8154548418650318	0.980676620471547	0.3267522366818944	1.0	0.9047316197866264	2	O14773	1
Brachydactyly	0.3192859548626027	0.9796734895258168	0.3272473162087592	1.0	0.9047316197866264	65	Q7Z4L5,O95831,P02545,Q13868,Q06136,P51812,P21912,Q9NSE4,O43924,P46100,P48449,Q08J23,P16435,Q9UHX1	14
Pseudoepiphyses	0.80943090093866	0.9757207538386712	0.329202864687709	1.0	0.9078771526114114	3	P51812	1
Pseudoepiphyses of hand bones	0.80943090093866	0.9757207538386712	0.329202864687709	1.0	0.9078771526114114	3	P51812	1
Pseudoepiphyses of the metacarpals	0.80943090093866	0.9757207538386712	0.329202864687709	1.0	0.9078771526114114	3	P51812	1
Reduced forced vital capacity	0.6404145355463804	0.9752508298603316	0.3294358541707227	1.0	0.9078771526114114	4	Q9BQT8	1
Angiokeratoma	0.8082191780821781	0.9713736044539496	0.3313622678454808	1.0	0.9078771526114114	3	P06280,P16278	2
Generalized onset motor seizure	0.3563389710542525	0.9702215260244876	0.3319360831686451	1.0	0.9078771526114114	53	P07602,P16278,P03915,O14936,Q01105,Q13510,P00846,Q96N66,Q00577,P04062	10
Dyspnea	0.3378919452575493	0.969573469251402	0.3322591426224064	1.0	0.9078771526114114	92	P02545,P00846,Q96CV9,P46100,P16219,Q9UHX1,P07602,P35637,Q13510,O75844,Q15165,P50995,O95831,Q8TCJ2,P53701,Q92804,P03915,P10253,P23786,Q00577,P04062	21
Bird like facies	0.5302305212732741	0.9692853981029972	0.3324028126832337	1.0	0.9078771526114114	7	P02545	1
Widened cerebral subarachnoid space	0.8070009456814536	0.967005812897634	0.333541127771102	1.0	0.9078771526114114	3	P00403	1
Focal t2 hyperintense brainstem lesion	0.4148275782095844	0.9622745976575215	0.3359116856302317	1.0	0.9078771526114114	19	O43676,Q96CU9	2
Rib segmentation abnormalities	0.8055481632612449	0.9618006889111844	0.3361497319362849	1.0	0.9078771526114114	3	Q9H3P2	1
Hypoplastic pubic rami	0.8055481632612449	0.9618006889111844	0.3361497319362849	1.0	0.9078771526114114	3	Q9H3P2	1
Aplasia hypoplasia of the pubic bone	0.8055481632612449	0.9618006889111844	0.3361497319362849	1.0	0.9078771526114114	3	Q9H3P2	1
Abnormality of abdominal situs	0.8055481632612449	0.9618006889111844	0.3361497319362849	1.0	0.9078771526114114	3	Q9H3P2	1
Pruritus	0.3854768145478113	0.9617689053998136	0.3361657008077579	1.0	0.9078771526114114	24	P00813,Q07954,P22830	3
Abnormal brain lactate level by mrs	0.4902015346339279	0.9607284186598352	0.3366887382488865	1.0	0.9078771526114114	10	P03915,P21912,P00403,O75306	4
Irritability	0.3221840727830017	0.9602684838626958	0.3369201074582046	1.0	0.9078771526114114	75	Q5KU26,P07602,O95831,Q8N1F7,P37268,Q14C86,P25705,O43772,Q15067,P50897,P00846,Q13510,Q8NFH4,P21912,P61457	15
Gingival bleeding	0.4891895515213457	0.9552380155121132	0.3394573452550289	1.0	0.9080856375171268	10	Q14108,P04062	2
Absence of subcutaneous fat	0.5264389424110474	0.9508795200679974	0.3416655392476673	1.0	0.9080856375171268	7	P02545	1
Abnormality of circulating leptin level	0.8024894002491769	0.9508547037700484	0.3416781384704452	1.0	0.9080856375171268	3	P02545	1
Unsteady gait	0.3591204988447875	0.9490990485620036	0.3425702382674274	1.0	0.9080856375171268	51	Q9NR77,O95831,Q96F07,O75503,Q9H6K4,P07196,P49366	7
Abnormality of the spleen	0.3566938041242909	0.9487456943037226	0.3427499677654071	1.0	0.9080856375171268	117	P28070,P07602,P35670,Q16625,P54802,P16278,P33991,P14174,Q14108,P21964,Q13510,P00813,Q6NUQ1,Q96HY6,P46100,O15118,P10619,Q15392	18
Enlarged ovaries	0.8017182879037973	0.948098102967318	0.3430795139271292	1.0	0.9080856375171268	3	P21912	1
Contractures of the joints of the lower limbs	0.3516470086900354	0.9480077584631058	0.3431255045099863	1.0	0.9080856375171268	54	P37268,Q8TD16,P02545,P35637,P23786,O00459,P50402,P21912,Q8IZA0,Q86XL3,Q08J23,Q7LGA3,Q99720	13
Joint subluxation	0.5794074594264566	0.9458069352323496	0.3442470676252152	1.0	0.9098020241565712	5	P16278	1
Genital neoplasm	0.383732561023811	0.9439439448435256	0.3451982939733362	1.0	0.9098020241565712	32	P02545,P48735,P21912,Q13423,Q01844,P78549	6
Hemorrhage of the eye	0.4586713863727368	0.9426590734038616	0.3458553134852804	1.0	0.9098020241565712	12	Q9Y487	1
Abnormal circulating long chain fatty acid concentration	0.5781937479250331	0.9405493941248934	0.3469358258012012	1.0	0.9102884571969112	5	O75381,P23786,P56589	3
Poor head control	0.3187183119046409	0.9394802156092104	0.3474842453617046	1.0	0.9102884571969112	73	Q5KU26,P07602,Q15233,Q96F07,P02545,P06753,P06865,O14936,P09471,O43676,Q96CU9,O96000,P21912,Q9Y5P6,P00374,Q9NQT5,Q9NWM8,Q10713	18
Hyporeflexia of lower limbs	0.5015636976209109	0.9388512124933228	0.3478071408601311	1.0	0.9102884571969112	9	Q9NR77	1
Polymicrogyria	0.3231152903977478	0.9380198627944834	0.3482342025766654	1.0	0.9102884571969112	78	Q8TD16,Q08J23,Q10713,P07437,P40855,O75381,Q9Y487,Q9BVA1,O00459,Q16625,Q15392,Q96EK5,Q01105,P56589,Q8NAT1,P37268,P23786,O43505,Q96N66	19
Atelectasis	0.485969791322129	0.9377803257970888	0.3483573138042661	1.0	0.9102884571969112	10	P21964	1
Small earlobe	0.5124666276766889	0.9360211341364936	0.3492623064717741	1.0	0.9110842516100376	8	P21964	1
Bowing of the legs	0.3695488434328278	0.9345095268694522	0.3500411240118632	1.0	0.911158089434564	45	Q9NR77,Q32P28,Q13126,P16278,O75431,Q96HY6,P46100,Q7LGA3	8
Abnormality of circulating glucocorticoid level	0.4446851259665609	0.93441225574335	0.3500912782120062	1.0	0.911158089434564	13	Q969G3,Q13423	2
Abnormality of the gallbladder	0.3802994864110393	0.9333427456723584	0.3506430314938138	1.0	0.9115517300741522	36	P07602,P40855,O43681,P21964,P22830,Q96A33,Q9H3P2,P04062,O96028	9
Aplasia hypoplasia of the optic nerve	0.3880589938635651	0.9312673505193738	0.3517152864249286	1.0	0.91381734235518	23	P37268,Q8N3U4,O95721,O75312,P61978,Q9NVI7,O14936,P07196,P49454,Q9Y5P6,P25054,Q9UHX1	12
Abnormalities of placenta or umbilical cord	0.4306732003030216	0.9302694157423848	0.3522316089768178	1.0	0.9146367849757414	14	P16278,P02545,O60826,O75844,P16435	5
Spontaneous recurrent epistaxis	0.8020867297032878	0.9297105891615672	0.3525209503280369	1.0	0.9148528267331838	2	P04062	1
Widened subarachnoid space	0.3825074950267661	0.9293325637493408	0.3527167642611462	1.0	0.9148528267331838	28	O95831,P03915,Q01105,P51812,P00403	5
Xanthomatosis	0.8017606781871611	0.9284735255381176	0.3531619945335216	1.0	0.915485990385302	2	P02545	1
Shallow orbits	0.484141366960059	0.9278743980759449	0.3534727261470785	1.0	0.9156340832313128	10	P61978,O75844,P02545	3
Metaphyseal cupping	0.8011085751548941	0.926000303134754	0.3544458227147538	1.0	0.9161031241614334	2	O95831	1
Giant platelets	0.8011085751548754	0.9260003031346822	0.3544458227147911	1.0	0.9161031241614334	2	P35579	1
Soft skin	0.5097898444222038	0.9226068856206106	0.3562121060707179	1.0	0.917644316261408	8	Q13126	1
Papule	0.4219769674079155	0.9200705725719244	0.357535881133399	1.0	0.9189284654915886	16	Q07954,P21912,P02545,O75844	4
Episodic respiratory distress	0.7938533695952363	0.9200516126407932	0.3575457885170729	1.0	0.9189284654915886	3	P00846	1
Echolalia	0.5198706608622684	0.919046560456966	0.3580712191202386	1.0	0.9189284654915886	7	P53701,Q01082,Q9UHX1	3
Recurrent sinopulmonary infections	0.5473282771491208	0.9177890346689924	0.358729324072617	1.0	0.9189284654915886	6	Q9Y487	1
Abnormal erythrocyte sedimentation rate	0.5082826536638712	0.9150593628165876	0.3601604669542562	1.0	0.9214982481770408	8	P28070,P14174	2
Atrophy degeneration involving the corticospinal tracts	0.4413334303773226	0.9139372052265784	0.3607498425202999	1.0	0.9214982481770408	13	P00846	1
Neurofibrillary tangles	0.7975220084773575	0.9124195054369788	0.3615479253976814	1.0	0.9214982481770408	2	O15118	1
Acanthosis nigricans	0.4812384014600445	0.9121597679633712	0.3616846192622518	1.0	0.9214982481770408	10	P28070,P02545	2
Oral aversion	0.4963747119156824	0.9119239620188336	0.3618087465636401	1.0	0.9214982481770408	9	O14497,P35610,Q969G3,Q92785	4
Chondrosarcoma	0.7913354871391693	0.9111006500891732	0.3622423439597328	1.0	0.9214982481770408	3	Q92804	1
Adducted thumb	0.3913306474531792	0.9100293546215072	0.3628070290650191	1.0	0.9214982481770408	22	P34897,Q9Y5S9,Q9UNE7,Q8NBU5,P57740,Q92917,P42892,Q86XL3	8
Infantile spasms	0.3799828199290899	0.9087958992980748	0.3634578715727405	1.0	0.9214982481770408	28	P03915,Q13813,Q13510,P00846,Q9UBX3	5
Aplasia cutis congenita of scalp	0.5688265701526021	0.9000684330255547	0.3680838337776007	1.0	0.9285051129780248	5	O96028,Q9H3P2	2
Fatigue	0.3207415999555542	0.8970248869160727	0.3697056373429688	1.0	0.9290483375786004	79	P21912,Q96CV9,P46100,O15460,O00592,P07602,P35637,P43243,Q15165,P50995,P53680,Q70HW3,Q4J6C6,P06753,Q13423,Q01082,Q14739,Q92804,Q6UN15,P06280,P04062	21
Abnormal circulating pyruvate family amino acid concentration	0.4099404806707696	0.8953051446504064	0.3706239909124167	1.0	0.9290483375786004	18	P03915,P00846,O96000,P25705	4
Abnormality of the periorbital region	0.3124955116852849	0.8952758050965502	0.3706396707035893	1.0	0.9290483375786004	65	P28070,Q8N1F7,Q14C86,O75381,Q92796,Q8NFH4,P56589,P38159,P51812,P98175,O43707,Q08J23,Q7LGA3,P07437	14
Hypoventilation	0.4501861105549842	0.8928165246757	0.3719554355379151	1.0	0.9293729650051232	12	O43819,P06753,P61978,O75306,Q00577,Q8N183	6
Myotonia	0.5140505223596354	0.8909042830990411	0.3729805223261415	1.0	0.9297959132686726	7	P50402,P02545	2
Headache	0.319119241579302	0.8892519443215702	0.3738676918669559	1.0	0.9309438679798973	63	Q8N1F7,Q969G3,Q14C86,P03915,P23786,Q8NFH4,P00846,P21912,O43707,P00403,O15460,P04062	12
Gastrostomy tube feeding in infancy	0.3776340633244412	0.8892265382601044	0.3738813430094749	1.0	0.9309438679798973	29	O15121,Q99720,P35637,Q01105	4
Abnormal macroscopic urine appearance	0.4131677929924684	0.8880348143263519	0.3745220246142426	1.0	0.9309438679798973	17	Q8N1F7,Q14C86,P23786,Q8NFH4,P57740,P36551,O43707	7
Cupped ear	0.43702466012227	0.8876589830067803	0.3747242156582664	1.0	0.9309438679798973	13	P42892	1
Abnormal oral frenulum morphology	0.4239479484485502	0.8875057061385674	0.3748066954504541	1.0	0.9309438679798973	14	O43924,P02545	2
Lipoma	0.5406471519849414	0.8873832327597897	0.3748726076465623	1.0	0.9309438679798973	6	P21912,Q9BUK6	2
Cough	0.3765482605918873	0.8844167348972696	0.3764712924029809	1.0	0.9318671494948594	26	Q9NR77,O15460,P41440	3
Paralysis	0.3589428902666985	0.8843332533862917	0.3765163424606463	1.0	0.9318671494948594	48	Q9NR77,P04062,P20700,Q92804,P02545,P35637,P10253,P50402,P21912,P36551,Q15165,Q96CV9,P50995,Q15233	14
Fasting hypoglycemia	0.783697029615042	0.8840348384135618	0.3766774066499432	1.0	0.9318671494948594	3	O43772	1
Abnormal acetabulum morphology	0.412339906388058	0.8824713133935888	0.3775219860957752	1.0	0.9334492562237746	17	Q9Y584,P16278	2
Abnormal pharynx morphology	0.3735420425422876	0.8812790187471332	0.3781668193311929	1.0	0.9341475177388142	37	Q13428,Q969G3,P54802,P16278,P29372,P43243,O15344,Q03519,Q13510,P00813,P15586,O15460	12
Morphological abnormality of the corticospinal tract	0.4195503594839682	0.8803270391822086	0.3786821687842192	1.0	0.9347945945259034	15	P00846	1
Platyspondyly	0.3757715536378714	0.8772458980798772	0.3803530910762993	1.0	0.9373942991766728	32	O95831,P16278,P00813,Q6NUQ1,Q96HY6,P48735	6
Prenatal movement abnormality	0.3334315615581359	0.8706224320110543	0.383960344150384	1.0	0.9406918944425648	58	Q93009,P51114,Q8TD16,P02545,Q16637,Q99567,P40855,O75844,Q9Y5P6,Q70HW3,O96028,P50570,Q4J6C6,P06753,P56589,Q9H3P2,O60885,Q96F07,P43897,P04062	20
Abnormality of neutrophil morphology	0.5369317257641077	0.8705162150097526	0.3840183618051824	1.0	0.9406918944425648	6	P35579,P41440	2
Agenesis of incisor	0.779272397594599	0.8684210901345177	0.3851638534073518	1.0	0.9406918944425648	3	Q12959	1
Thickened ribs	0.6138430878481291	0.868091472402276	0.3853442590268086	1.0	0.9406918944425648	4	P54802	1
Abnormal atrioventricular conduction	0.4176094445970533	0.8677918076893805	0.3855083156328627	1.0	0.9406918944425648	15	P02545,O43772,P50402,P21912,Q14BN4	5
Asymmetric septal hypertrophy	0.7854581023801963	0.8670273148062589	0.385927043691292	1.0	0.9406918944425648	2	P54802	1
Multiple prenatal fractures	0.5090947446628098	0.8669974897395294	0.3859433851049334	1.0	0.9406918944425648	7	Q32P28,Q14739,O75718,P06753	4
Abnormal choroid morphology	0.3746330176664643	0.8668378569068198	0.3860308565067467	1.0	0.9406918944425648	27	P40855,P53701,O60826,O75381,O14936,O43505,P04439,P56589,P41227,Q8NAT1,Q5XKP0,Q10713	12
Telangiectasia	0.3739195428776495	0.8644693920854605	0.3873300874152212	1.0	0.941772208562094	33	P03915,P00846,P46100,P10619,Q8IZA0	5
Diminished movement	0.4008329143122963	0.8640277183131703	0.3875726639821715	1.0	0.941772208562094	19	P51114,O95831,P06753,Q99567,P04062,O00592	6
Disproportionate short trunk short stature	0.6126003417085673	0.8631191137912899	0.3880719799244339	1.0	0.941772208562094	4	P16278	1
Rimmed vacuoles	0.4168698746831198	0.8630190196380523	0.3881270097772078	1.0	0.941772208562094	15	Q9BTV4,P02545,P43243,P09651,O14979,P50402,P22626,Q9H173	8
Arm dystonia	0.7768213925489595	0.8597933218795715	0.3899029811509695	1.0	0.9425588795534856	3	Q99720	1
Abnormality of the calf	0.3402955693898891	0.85535277499254	0.3923558792054771	1.0	0.9449756413456782	55	Q9NR77,O95831,Q32P28,Q13126,P16278,O75431,Q96HY6,P46100,Q7LGA3	9
Neoplasm of the endocrine system	0.3712261464985843	0.8548332124375485	0.3926434887601875	1.0	0.9450810918359668	36	Q969G3,P02545,P21912,P42892,P46100,P48735	6
Abnormal femoral neck morphology	0.3703686554195552	0.8536238907754651	0.3933134167932235	1.0	0.9450810918359668	37	O95831,P16278,P02545,Q9Y487,O75431,O75844,P51812,Q96HY6,P46100	9
Facial edema	0.3716322713751708	0.8522549411706807	0.3940726088733162	1.0	0.9450810918359668	24	P28070,Q8N1F7,Q14C86,Q8NFH4,P57740,O43707,Q01082	7
Epistaxis	0.4113410824666321	0.8500019140123762	0.3953240221132255	1.0	0.94584764650763	16	P35579,Q6UN15,Q13586,O15460,P12814,Q96EV8,P04062	7
Myositis	0.4952499565385139	0.8499917569641992	0.3953296691401768	1.0	0.94584764650763	8	P28070,P22626	2
Abnormal parotid gland morphology	0.7808933811542182	0.8499763563655618	0.3953382315235281	1.0	0.94584764650763	2	P16615	1
Benign neoplasm of the central nervous system	0.3987969955605763	0.8497956045168135	0.3954387338268934	1.0	0.94584764650763	19	Q969G3,P78549,O43924,P02545	4
Abnormal lung lobation	0.4307439895425042	0.8494571584768189	0.3956269593476553	1.0	0.94584764650763	13	P21964	1
Short middle phalanx of finger	0.773664261741198	0.8487032173449172	0.3960464554977732	1.0	0.9463535251579336	3	Q9UHX1	1
Abnormal glycosylation	0.3830353079629602	0.84777701321048	0.3965621670741288	1.0	0.9465920212487856	22	Q9Y487,Q8N511	2
Abnormal blood transition element cation concentration	0.4536592623484557	0.8472799117685617	0.3968391208202817	1.0	0.946717034367895	11	P35670,Q15904,Q9Y487	3
Prostate neoplasm	0.5564621409921713	0.8469365363869363	0.3970304961793303	1.0	0.946717034367895	5	O60934,P25054,Q92878,P49959	4
Short umbilical cord	0.7726294029638057	0.8450738929857441	0.398069583609395	1.0	0.947016497981638	3	P02545	1
Small placenta	0.7726294029638057	0.8450738929857441	0.398069583609395	1.0	0.947016497981638	3	P02545	1
Kyphoscoliosis	0.3487581234891974	0.8442120285893372	0.3985509341206821	1.0	0.947016497981638	51	Q5KU26,Q9NR77,P02545,Q9Y487,O75844,P51812,P46100,Q9NWM8	8
Flat face	0.3715035302315967	0.8441020319074274	0.3986123923841869	1.0	0.947016497981638	26	O75381,Q9Y487,P56589,P46100,Q03164,P07437	6
Neoplasm of the peripheral nervous system	0.4020332445036744	0.8411452321249728	0.4002665779426189	1.0	0.9489603972655968	18	Q07954,Q969G3,P02545,P46100	4
Axonal loss	0.5303489876287152	0.8407151830663951	0.4005075126878066	1.0	0.9489603972655968	6	P41440	1
Progressive sensorineural hearing impairment	0.4679363522334027	0.8403979690405632	0.4006852875043418	1.0	0.9489603972655968	10	P03915,P00403	2
Aplasia hypoplasia of toe	0.3712270150994177	0.8393074301771751	0.4012968147914568	1.0	0.9494230728317122	32	Q9UGU0,P02545,Q13510,P00813,Q03164,Q7LGA3,Q9UHX1	7
Spastic tetraparesis	0.3699414668836215	0.8389408414833972	0.4015025077330945	1.0	0.9494230728317122	24	P00846	1
Absent thumbnail	0.6056237127956206	0.8352827513131451	0.4035585267571342	1.0	0.9498922999683692	4	O14936	1
Abnormal leukocyte physiology	0.3075309002150435	0.8337568730842413	0.4044180023010053	1.0	0.9498922999683692	65	P28070,P14174,Q14108,P21964,P09601,P00813	6
Personality changes	0.4119590297973386	0.8313825901403649	0.4057575310467394	1.0	0.9498922999683692	15	P35670,P03915,P00403,P04062	4
Elbow flexion contracture	0.3686648528230271	0.8288990941758064	0.407161507998325	1.0	0.9498922999683692	24	P37268,P02545,P06753,P23786,P50402,Q7LGA3	6
Abnormal shape of the palpebral fissure	0.4802657668369349	0.8286919595982742	0.4072787366539443	1.0	0.9498922999683692	9	P55795	1
Periorbital edema	0.3746895292955153	0.8284111954235974	0.407437668404611	1.0	0.9498922999683692	23	P28070,Q8N1F7,Q14C86,Q8NFH4,P57740,O43707,Q01082	7
Narrow mouth	0.3070121927024209	0.8266501696411405	0.4084353726055703	1.0	0.9498922999683692	70	Q9UGU0,Q15233,P02545,Q9Y487,P21964,O00459,O75431,O75844,Q9NSE4,Q14004,Q15392,Q7LGA3,P04062,P07437	14
Focal dystonia	0.3906191927540142	0.8259307988036676	0.4088433483209504	1.0	0.9498922999683692	20	Q13428,P35637,Q15043,P41227,Q99720,Q01082,O75569	7
Loss of ability to walk	0.4498505451703064	0.8258580615079711	0.4088846132145098	1.0	0.9498922999683692	11	P21912,P00846	2
Peritonitis	0.4384250459960231	0.8240659672088299	0.4099020763197785	1.0	0.9498922999683692	12	Q8N1F7,Q14C86,Q8NFH4,P57740,O43707	5
Minimal change glomerulonephritis	0.4384250459960231	0.8240659672088299	0.4099020763197785	1.0	0.9498922999683692	12	Q8N1F7,Q14C86,Q8NFH4,P57740,O43707	5
Abnormality of the wrist	0.3686133477920003	0.8210687573002717	0.4116071048076581	1.0	0.9498922999683692	26	O95831,P16278,P02545,Q13510,O75844	5
Depression	0.3325562334865228	0.8194156933917857	0.4125492842197849	1.0	0.9498922999683692	100	P20700,Q9BUK6,P21964,P46100,Q96CV9,O15460,Q08J23,O00592,P07602,P35637,P50897,P36551,Q15165,P50995,P51812,P00403,P35670,Q92804,P03915,P06280,Q96N66,Q6DKK2,P04062,O43681	24
Abnormal elasticity of skin	0.3259025048597878	0.8193404786644527	0.4125921839474302	1.0	0.9498922999683692	59	P04062,Q13126,P02545,Q9Y487,O75844,O96000,P51812,Q9NWM8,Q9UHX1	9
Abnormal heart sound	0.6014285757045743	0.8186119011690143	0.4130078747151198	1.0	0.9498922999683692	4	P10253	1
Abnormal epiphyseal ossification	0.4099528701840749	0.8184886023451399	0.4130782475458265	1.0	0.9498922999683692	15	P40855,O75381,P56589,Q9UG56,Q96HY6	5
Abnormal peripheral nervous system morphology	0.3744133571006039	0.8180946621002605	0.4133031366212649	1.0	0.9498922999683692	156	Q9NR77,P02545,Q15043,P39210,P00846,P21912,P46100,P16219,Q96BR5,Q9UHX1,Q9BPX6,P07602,P40855,P35637,Q8IV08,O75381,Q92796,Q15067,Q13510,P50570,O95831,P41440,P56589,P51812,P00403,O15121,P22626,Q969G3,Q07954,P03915,P07196,Q9BQT8,Q6DKK2,Q99720,O43681	35
Hemangiomatosis	0.7717639387023283	0.816097835310803	0.4144441819161351	1.0	0.9498922999683692	2	P48735	1
Lymphangioma	0.7717639387023283	0.816097835310803	0.4144441819161351	1.0	0.9498922999683692	2	P48735	1
Visceral angiomatosis	0.7717639387023283	0.816097835310803	0.4144441819161351	1.0	0.9498922999683692	2	P48735	1
Restless legs	0.5996854303066597	0.8117007253394855	0.4169633780510962	1.0	0.9505852369272106	4	P07196	1
Abnormality of the calf musculature	0.4014335559789915	0.8094427575230105	0.4182605163286186	1.0	0.9509694880125408	17	Q9NR77,P50570,P02545,P43243,Q9Y5P6,Q8NAT1	6
Intestinal polyp	0.4013136229537674	0.8086427733486724	0.4187206538872978	1.0	0.9509694880125408	17	P21912,P78549,P42892	3
Abnormal rectum morphology	0.3672138617932482	0.8072806691696209	0.4195047985503657	1.0	0.9509694880125408	27	P53701,P51812,P41227,P21912,P20585,P78549,Q8TAA9,Q08J23,Q16531	9
Sagittal craniosynostosis	0.5983560313410039	0.8064364124511478	0.4199912586590395	1.0	0.9509694880125408	4	P61978	1
Exercise intolerance	0.3674917135605935	0.8062816797703339	0.4200804514466105	1.0	0.9509694880125408	30	Q9Y2R0,P06753,P03915,P23786,Q9Y5P6,Q8NI60,P00403,Q8NFF5	8
Increased circulating acth level	0.5469261146972051	0.8062416664651992	0.4201035181861168	1.0	0.9509694880125408	5	P46100	1
Abnormal tricuspid valve physiology	0.3965456194875682	0.8037243396312201	0.421556194073311	1.0	0.9509694880125408	18	P53701,O75431,P46100	3
Abnormality of the peritoneum	0.4041878482941643	0.803134610088035	0.4218969352621498	1.0	0.9511831655922056	16	Q8N1F7,Q14C86,Q8NFH4,P57740,O43707,Q01844	6
Macroglossia	0.3667583728523667	0.8021243924083294	0.4224810063406388	1.0	0.9511831655922056	32	P16278,P61978,P10253,Q96A33,P04066,P21912,Q9Y5P6,P46100,Q7LGA3,Q10713	10
Rhizomelia	0.4602093618909695	0.7989454087252889	0.4243220672410885	1.0	0.9525292502761444	10	Q15392,Q14739,Q03164	3
Aplasia hypoplasia of the patella	0.5960310556921511	0.797243443808198	0.4253096595236303	1.0	0.952618671963271	4	Q96AY3,Q9Y5S9	2
Lissencephaly	0.3438681998864781	0.794960073778172	0.4266367275238929	1.0	0.952618671963271	51	Q96EK5,P20700,Q9Y487,Q9BVA1,O14936,P09471,O00459,P07942,P23786,O43505,Q9Y5P6,Q8NAT1,Q16625,Q15392,Q86XL3	15
Abnormal femoral neck head morphology	0.3546506844789374	0.7940935561563611	0.4271409686869147	1.0	0.952618671963271	45	O95831,P16278,P02545,Q9Y487,O75844,P51812,Q6NUQ1,Q96HY6,P46100,Q7LGA3	10
Biliary cirrhosis	0.5198522613373427	0.7934459062511353	0.4275180737114961	1.0	0.952618671963271	6	P09601	1
Abnormality of the musculature of the upper limbs	0.3043589440742534	0.793384492603843	0.4275538429007333	1.0	0.952618671963271	70	Q9NR77,P07602,P50570,Q8TD16,P02545,P06753,Q9Y487,P07196,O14979,P50402,Q9BQT8,P46783	12
Pulmonary infiltrates	0.4936955271552547	0.7931169365987776	0.4277096960491036	1.0	0.952618671963271	7	Q13510	1
Hypoplasia of the odontoid process	0.5197606178268904	0.7930347216020166	0.4277575934738413	1.0	0.952618671963271	6	O95831	1
Neurogenic bladder	0.5196338046186832	0.7924657839345323	0.4280891349907603	1.0	0.952890827617575	6	P50336,P56589	2
Medulloblastoma	0.5194014895010777	0.7914236584579687	0.4286968086807508	1.0	0.952917037109652	6	P35222,Q12824,P25054	3
Motor deterioration	0.5434242566756571	0.7913685951659618	0.4287289305800894	1.0	0.952917037109652	5	O75503	1
Pulmonary carcinoid tumor	0.7563414340716839	0.7883584050884946	0.4304870936546336	1.0	0.9542130800108436	3	P46100	1
Abnormal arterial physiology	0.364322627462857	0.7869728472496899	0.4312977612961122	1.0	0.9545264444924147	26	Q14739,P02545,P06280,O75844,O15460,Q9NWM8	6
Abnormal subarachnoid space morphology	0.3648580933626831	0.7851402743483987	0.4323713286427146	1.0	0.9545264444924147	31	O95831,P03915,Q01105,P51812,P00403	5
Prolonged neonatal jaundice	0.3974395219041955	0.7828431852539918	0.4337192042876165	1.0	0.9552354910377824	17	Q15904,O14936,P39210,P56589,O15118	5
Weakness of muscles of respiration	0.3637899926974686	0.7794982099289711	0.4356862916513542	1.0	0.9571640924695772	33	P50570,O95831,Q8TD16,P02545,P06753,P10253,Q15067,Q13510,P50402,P36551,P22626	11
Recurrent acute respiratory tract infection	0.76133029018587	0.7777737969328073	0.4367023779509997	1.0	0.9580677927730812	2	Q03519	1
Axillary pterygium	0.7613302901858461	0.7777737969327215	0.4367023779510504	1.0	0.9580677927730812	2	P98172	1
Ovarian neoplasm	0.3966368253311871	0.7775081919962268	0.436859003182616	1.0	0.9580677927730812	17	Q01844,P48735,P02545	3
Abnormal placental size	0.5909202112599679	0.7770990409335776	0.4371003397785504	1.0	0.9580677927730812	4	P02545	1
Limited extraocular movements	0.5161852330073327	0.7770148633150613	0.4371500012279634	1.0	0.9580677927730812	6	Q9BVA1,O75306	2
Ovoid vertebral bodies	0.4895838662545733	0.7735140990653683	0.4392181879370822	1.0	0.9595603894944608	7	P54802	1
Disproportionate short limb short stature	0.395720035061153	0.7714195595339631	0.4404582851915797	1.0	0.9595603894944608	17	Q15392,Q32P28,Q7LGA3	3
Abnormal length of corpus callosum	0.7593739810890063	0.7706380962901177	0.4409214736580296	1.0	0.9595603894944608	2	P48449	1
Abnormal circulating bilirubin concentration	0.3620225031824631	0.7687492568689351	0.442042177576452	1.0	0.9595603894944608	26	P40855,P41440,O14936,P23786,P36551,P55263,Q01082	7
Premature graying of hair	0.478326507015233	0.7661852742253715	0.4435660691407359	1.0	0.9605674342191388	8	Q13126	1
Abnormality of the tarsal bones	0.3770823019990796	0.7645294374979302	0.4445518010245266	1.0	0.9619673429865075	21	P02545,Q99567,Q9UPT5,O75844,P98175,Q9UHX1	6
Retinal thinning	0.7570916204760304	0.7623339984036509	0.4458606873456048	1.0	0.9619673429865075	2	P04439	1
Shuffling gait	0.4277724128383344	0.7622460845418271	0.4459131458825842	1.0	0.9619673429865075	12	P41227,P04062,P02545,O75844	4
Abnormality of circulating enzyme level	0.3210967753637618	0.7606706295586593	0.4468538217049351	1.0	0.9626495960250188	92	P02545,O43772,Q9BUK6,P39210,Q13586,Q9Y584,Q8NFF5,Q08J23,Q96BR5,Q9BPX6,P43243,O14979,Q9Y5P6,P53985,Q07021,Q92734,P50570,O95831,P06753,Q14126,Q16836,Q8NAT1,Q9NWM8,Q15149,P22626,P10253,P07196,P23786,O43505,P50402,Q5JRX3	31
Focal t2 hyperintense basal ganglia lesion	0.3711414809051379	0.7591637153437663	0.4477546285222884	1.0	0.9638330336567682	22	Q96CU9,P00846	2
Abnormal autonomic nervous system physiology	0.3615862558303761	0.758098880563324	0.4483917898177194	1.0	0.9638330336567682	30	P07602,P20700,P41440,O43681,P06280,Q15067,P42892,P04062,O00592	9
Abnormal vitreous humor morphology	0.4766001181451126	0.757690887723741	0.4486360553647226	1.0	0.9638330336567682	8	P53701,P04439	2
Abnormal synaptic transmission at the neuromuscular junction	0.3603040076276015	0.7551608148445207	0.4501524970703636	1.0	0.9651880200962296	26	Q92734,Q92804,P35637,P06753,P43243,Q13586,Q9Y5P6,Q15165,P29992,Q96CV9,P50995,Q14203,Q15149	13
Abnormality of upper limb joint	0.3322210025170159	0.7546539511597087	0.4504566431665384	1.0	0.9653854235847849	106	Q9NR77,P02545,Q99567,P41227,P42892,Q8IZA0,P98172,Q7LGA3,Q13510,O75844,Q15392,O96028,O95831,P06753,Q9H6K4,Q03164,P16435,Q15233,P37268,P16278,P07196,P23786,P50402,Q8WVM7	24
Hypocalciuria	0.7541571568307799	0.7516910689896134	0.4522368624947517	1.0	0.9666830023037528	2	P53680	1
Hypermagnesemia	0.7541571568307799	0.7516910689896134	0.4522368624947517	1.0	0.9666830023037528	2	P53680	1
Proximal amyotrophy	0.3994188380949147	0.7511212762197945	0.4525796722885609	1.0	0.9667492577463768	15	P07196,P35637,P02545,O14979	4
Abnormal systemic blood pressure	0.3202574705985463	0.7503024294114837	0.4530725797795099	1.0	0.9668946944005292	92	P20700,P02545,O43772,P21964,P49366,P35610,P21912,P07686,O43707,P42892,P46100,Q10713,P07602,P35611,O75844,P36551,P50336,Q13423,P00403,Q9H4A3,Q8TAA9,P16435,P03915,P06280,P04062,O43681	26
Erlenmeyer flask deformity of the femurs	0.583966463343536	0.7498409085691518	0.4533505272398466	1.0	0.9670202184281792	4	P07602	1
Membranoproliferative glomerulonephritis	0.7531790022823703	0.7481520241654831	0.4543684651626001	1.0	0.9678452285541206	2	Q03252	1
Aplasia hypoplasia involving bones of the thorax	0.3595794890423203	0.742698062025495	0.4576645033300235	1.0	0.969121735252807	32	Q7Z4L5,P02545,O60826,O75431,P41227,O75844,P98175,Q96HY6,Q03164,Q8TAA9,P98172,P16435,Q9UHX1	13
Orthostatic hypotension	0.4009349038891794	0.7425237367685316	0.4577700756293619	1.0	0.969121735252807	14	P07602,P20700,P04062,O43681	4
Weak voice	0.5313263477505971	0.7403207518671794	0.4591053920703818	1.0	0.9704624188102152	5	P43243,P04062,O00592	3
Low set posteriorly rotated ears	0.3062611554299242	0.7357015823699324	0.4619123264721274	1.0	0.9740335563647023	63	P40855,P37268,P04062,Q4J6C6,O75381,P56589,P41227,P98175,O43924,Q9H3P2,Q15392,Q08J23,P16435,Q10713,P07437	15
Abnormality of visual evoked potentials	0.3778724529809421	0.7355884303417657	0.4619812056659473	1.0	0.9740335563647023	20	O75503,P07602,Q15067	3
Aspiration	0.4711273124756842	0.7308415337679314	0.4648759510586648	1.0	0.9756833580780528	8	P29372,P06865,O15344	3
Abnormality of dental color	0.739510548875066	0.7306537104862052	0.4649906962718595	1.0	0.9756833580780528	3	P16278	1
Increased intramyocellular lipid droplets	0.5056712706504989	0.7301767805522335	0.4652821336098416	1.0	0.9756833580780528	6	Q8NI60,Q9BUK6	2
Abnormality of the odontoid process	0.4795412380089746	0.7258996142594866	0.467900313007588	1.0	0.9770101948672206	7	O95831	1
Abnormal thoracic spine morphology	0.3571660195751676	0.724799216223319	0.4685752166851267	1.0	0.977106602924124	28	O95831,P04062,P02545,O00459,O75844,Q9NSE4,Q9UHX1	7
Anorexia	0.3555568884527034	0.7217432037396627	0.4704523744326749	1.0	0.977106602924124	25	Q14108,Q6UN15,P06280,Q13423,P46100,O15460,P04062	7
Impaired mastication	0.4785674231100651	0.7213044251096461	0.4707222349876065	1.0	0.977106602924124	7	O15460	1
External ear malformation	0.3904696989783807	0.7140430436560099	0.475200563518527	1.0	0.9832331659710614	16	P40855,O75381,P56589,Q00577,P32929,P07437	6
Toe syndactyly	0.326616134243138	0.7107172536802374	0.477259465691179	1.0	0.9852331991352996	55	Q7Z4L5,P37268,P51812,O43924,Q08J23,Q9UHX1	6
Genu valgum	0.3553367161045188	0.7072064590152928	0.479438185252754	1.0	0.9884069833652792	31	Q9NR77,P16278,O75431,P46100,Q7LGA3	5
Coarse facial features	0.2971491482558048	0.7059535444575544	0.4802170276627584	1.0	0.9893144539698896	65	O95831,P54802,P16278,P51812,P38159,P46100,P10619,Q7LGA3	8
Abnormal metatarsal morphology	0.363864761213884	0.7054497821449949	0.4805303729629671	1.0	0.9893144539698896	22	O43505,Q8NAT1,Q03252,Q15392,Q08J23,P16435	6
Multiple joint contractures	0.3732378631137515	0.7030274219986513	0.48203866038831	1.0	0.990227970702918	20	Q15043,O75844,P41440,P02545	4
Heart block	0.3524311447791474	0.702224199082303	0.4825393565226357	1.0	0.9903152168129116	24	P02545,O43772,Q07954,P23786,Q14BN4	5
Short stepped shuffling gait	0.7309197651663284	0.7016018625721746	0.4829274897488655	1.0	0.9904978904171412	3	P04062,O00592	2
Congenital onset	0.3245676805483763	0.7007298300301694	0.4834716362973994	1.0	0.9904978904171412	102	Q5KU26,P78318,Q8TD16,P25705,Q99567,P41227,O43924,Q9NQT5,Q7LGA3,Q9UHX1,P07437,P07602,Q9Y5P6,Q03252,Q5XKP0,Q4J6C6,P50570,Q96EK5,P06753,Q8NFH4,P36404,P08670,Q8TCJ2,P46977,O43505,Q96N66	26
Abnormality of the basal ganglia	0.3101882919171744	0.7001420709429355	0.4838385844366075	1.0	0.9904978904171412	85	O95831,P16278,P03915,P23786,P00846,Q96CU9,Q96N66,P00403,Q8NI60,Q08J23,Q9BPX6	11
Progressive hearing impairment	0.4168548374580409	0.6994733293892458	0.4842562750075005	1.0	0.9904978904171412	12	P03915,P00403	2
Bilateral cleft palate	0.7394848386044938	0.6990806756057344	0.484501614453761	1.0	0.9904978904171412	2	Q12959	1
Non midline cleft palate	0.7394848386044938	0.6990806756057344	0.484501614453761	1.0	0.9904978904171412	2	Q12959	1
Abnormality of thalamus morphology	0.3847461152374588	0.6989705453995676	0.4845704385282228	1.0	0.9904978904171412	17	Q969G3,Q9UPT5,O75306,Q9Y5P6,Q96EY7	5
Abnormal pyramidal sign	0.3417014366311758	0.6978874100311327	0.4852476085199415	1.0	0.9909587770223302	124	Q9NR77,Q15043,P00846,P21912,P07602,P35637,P17480,Q92796,Q15067,Q8NI60,O95831,P41440,O75027,Q9H6K4,P51812,O15121,O14773,P07196,Q9H9P8,Q6DKK2,Q99720,O43681	22
Osteopenia	0.3010211535157082	0.695610505954656	0.4866727849833421	1.0	0.9911797963620824	75	P07602,Q32P28,Q13126,P02545,P61978,Q14108,Q9Y487,O75431,O75844,Q9NSE4,Q9NWM8	11
Paroxysmal involuntary eye movements	0.367463145265666	0.6952485563113914	0.486899547349332	1.0	0.9911797963620824	21	O43676,Q96CU9	2
Abnormal lactate dehydrogenase level	0.3797981263068938	0.690656109070114	0.4897816778357255	1.0	0.9911797963620824	18	P41440,P10253,P23786,Q5JRX3,Q8NAT1	5
Profound global developmental delay	0.3925547924125036	0.6904642160909957	0.4899023056383615	1.0	0.9911797963620824	14	P46100,P37268,O75381,P56589	4
Abnormal renal tubule morphology	0.3617644826314345	0.6900322525596514	0.4901739051227571	1.0	0.9911797963620824	22	P03915,P06280,P23786,P57740,P00846,O75306	6
Emg abnormality	0.2995789397630424	0.6888368640376296	0.4909259343171921	1.0	0.9911797963620824	74	Q9NR77,P07602,P50570,P02545,P03915,P07196,P39210,Q13510,P50402,Q8NI60,O14773,P22626	12
Short palpebral fissure	0.3522890429456121	0.6887018987017067	0.4910108811013014	1.0	0.9911797963620824	27	P55795,P02545,O75844,P98175,Q03164,Q14004,Q9UHX1,P07437	8
Abnormal activity of mitochondrial respiratory chain	0.3311840613973797	0.688467615293215	0.491158357136932	1.0	0.9911797963620824	52	Q9Y2R0,O43676,Q96CU9,O96000,Q70HW3	5
Muscle flaccidity	0.7266530835446453	0.6872831042060891	0.4919043438170762	1.0	0.9911797963620824	3	Q15149	1
Episodic pain	0.391453509245514	0.6836601337737644	0.4941898029508453	1.0	0.9911797963620824	14	Q13423,P23786,P46100	3
Kinetic tremor	0.3523363455648367	0.6832133513526166	0.4944720372220208	1.0	0.9911797963620824	32	P07602,P20700,P41440,Q14108,O75027,Q9UBB4,Q15233,O43681	8
First degree atrioventricular block	0.566702655973252	0.6830124267985485	0.494598990168996	1.0	0.9911797963620824	4	P02545	1
Immunologic hypersensitivity	0.3522712222915453	0.6827160252101133	0.4947863015034002	1.0	0.9911797963620824	30	P00813,P21964	2
Abnormality of earlobe	0.3520336066904045	0.6820120992891595	0.4952313002227519	1.0	0.9911797963620824	29	P53701,Q15392,P21964,Q7LGA3	4
Abnormal muscle fiber protein expression	0.4701639606373454	0.6818303385205098	0.4953462380944959	1.0	0.9911797963620824	7	P50402,P02545	2
Constriction of peripheral visual field	0.3606170170898511	0.6816268449148162	0.4954749358008485	1.0	0.9911797963620824	22	O75381,Q9H061,P56589,P00846	4
Transposition of the great arteries	0.5662428256924226	0.6812505308524716	0.4957129792861803	1.0	0.9911797963620824	4	P02545	1
Knee flexion contracture	0.3515549518920187	0.680186347133403	0.4963864760216558	1.0	0.9911797963620824	28	P37268,Q8TD16,P23786,O00459,P21912,Q86XL3,Q7LGA3	7
Truncal titubation	0.7336159113139894	0.6783380128621962	0.4975574019828763	1.0	0.9911797963620824	2	Q6PJG6	1
Meningocele	0.4373822476832213	0.6779090293493455	0.4978293745961903	1.0	0.9911797963620824	10	Q9Y5P6,P21964,Q10713	3
Abnormal femoral head morphology	0.3776929953538195	0.6765926632680002	0.4986644353693028	1.0	0.9911797963620824	18	O95831,Q6NUQ1,P16278,Q7LGA3	4
Porencephalic cyst	0.5159205535115169	0.6761871992381631	0.4989217987806515	1.0	0.9911797963620824	5	P07942	1
Volvulus	0.515914864465963	0.6761637200972586	0.4989367040444721	1.0	0.9911797963620824	5	O60885,P46100	2
Metopic synostosis	0.7230307622952972	0.675186882510826	0.4995570395505779	1.0	0.9911797963620824	3	P61978	1
Visual fixation instability	0.7228720310974633	0.6746581134522102	0.4998930022789163	1.0	0.9911797963620824	3	Q13510	1
Optic disc pallor	0.3352246779580817	0.6714773037479025	0.5019165133062748	1.0	0.9925307721126296	49	O95831,Q9H061,Q9BUK6,Q9H6K4,Q6P4Q7,O14936,P04439,P00846,O43676,Q96CU9,O96000,O75306,Q9UG56,Q10713	14
Megalocornea	0.4219867437533002	0.6710307669025943	0.5022009297655736	1.0	0.9925307721126296	11	Q96EK5,Q9Y5P6,Q9H3P2	3
Back pain	0.3539319298767628	0.6709785522005156	0.5022341928805587	1.0	0.9925307721126296	23	P35670,Q969G3,P02545,P50402,P36551,Q8TAA9,P50336	7
Complete duplication of phalanx of hand	0.5632807241723217	0.66992520903861	0.5029054686991841	1.0	0.9925307721126296	4	P41227	1
Thin clavicles	0.7214182906820052	0.6698204957513297	0.5029722264124974	1.0	0.9925307721126296	3	P02545	1
Advanced eruption of teeth	0.4357068352474171	0.6691298112839722	0.5034126747836383	1.0	0.9925307721126296	10	P51812,P02545	2
Rhabdomyolysis	0.4113084355587293	0.6678589217301287	0.5042236509141098	1.0	0.9929913785693728	12	O43772	1
Gaze evoked nystagmus	0.4481604465440977	0.6654056932242757	0.505791044503888	1.0	0.9929913785693728	9	Q9Y4W6,P41440,Q10713,Q9UBB4	4
Large intestinal polyposis	0.4572275067056021	0.6632619151447399	0.5071628236839283	1.0	0.9929913785693728	8	P21912,P78549	2
Abnormal aortic arch morphology	0.4204630608617458	0.6626861966506554	0.5075315520198558	1.0	0.9929913785693728	11	P21964,Q9UHX1	2
Abnormal posterior segment imaging	0.7188519243313662	0.6613031679061414	0.5084179102913702	1.0	0.9929913785693728	3	Q8WWY3,P04439	2
Upper limb spasticity	0.4657134370792525	0.6610654076429822	0.508570368296692	1.0	0.9929913785693728	7	Q99720	1
Abnormal cry	0.45646439721549	0.6595803122729095	0.5095231918399481	1.0	0.9929913785693728	8	Q13510,P25705	2
Aplasia hypoplasia of the cerebral white matter	0.4468310319747167	0.6587483086987824	0.5100574058751142	1.0	0.9929913785693728	9	P00403	1
Lower limb spasticity	0.3005568636901517	0.6569816252665037	0.5111927314251283	1.0	0.9929913785693728	78	P07602,O95831,P04062,P35637,Q9H6K4,P07942,P00846,P56589,Q96CU9,P46100,Q6DKK2,Q99720	12
Congenital nystagmus	0.3781785229888654	0.6560544478715998	0.511789092057876	1.0	0.9929913785693728	17	P00846	1
Waddling gait	0.3470369217388668	0.6555747685708745	0.5120977642969073	1.0	0.9929913785693728	25	Q8TD16,P02545,P07196,Q13510,P50402,P22626,Q4J6C6	7
Synostosis of metacarpals metatarsals	0.716932484641388	0.6549522017513673	0.5124985290016202	1.0	0.9929913785693728	3	Q15233	1
Abnormality of the nasal septum	0.4885045662796916	0.6547272025618364	0.5126434078592355	1.0	0.9929913785693728	6	P51812	1
Prominent superficial blood vessels	0.3980780381795011	0.6537585172974584	0.513267396097761	1.0	0.9929913785693728	13	Q9Y487,P02545	2
Abnormality of the foot musculature	0.7161429431673396	0.6523446677022506	0.5141788507852343	1.0	0.9929913785693728	3	O14979	1
Abnormal number of permanent teeth	0.7261167264427734	0.6521042269190639	0.5143339374544078	1.0	0.9929913785693728	2	Q12959	1
Menorrhagia	0.725790674926635	0.650970773448911	0.5150653535257499	1.0	0.9929913785693728	2	P35579	1
Peripheral cyanosis	0.4635112982117055	0.6508298460460535	0.5151563315444596	1.0	0.9929913785693728	7	P51812,P04066	2
Brain stem compression	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Ear pain	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Hypothalamic hypothyroidism	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Decreased circulating follicle stimulating hormone concentration	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Abnormal central sensory function	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Neuralgia	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Intracranial meningioma	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Transient global amnesia	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Decreased circulating gonadotropin concentration	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Progressive pulmonary function impairment	0.7153433376916255	0.649706816959292	0.5158816196920863	1.0	0.9929913785693728	3	Q969G3	1
Abnormal circulating estrogen level	0.417721644417211	0.6477116373886368	0.5171714759410146	1.0	0.9929913785693728	11	P16435,Q969G3,P57740	3
Childhood onset sensorineural hearing impairment	0.7241604173459517	0.645312662296962	0.5187245886691203	1.0	0.9929913785693728	2	Q9NSE4	1
Prelingual sensorineural hearing impairment	0.7241604173459517	0.645312662296962	0.5187245886691203	1.0	0.9929913785693728	2	Q9NSE4	1
Abnormal coronary artery morphology	0.4860698173160272	0.6441454353952615	0.5194811297880935	1.0	0.9929913785693728	6	P16278	1
Hypochromic microcytic anemia	0.5563330173595299	0.6435329668041578	0.5198783305462975	1.0	0.9929913785693728	4	P46100	1
Primary peritoneal carcinoma	0.5562805872756803	0.6433347490983704	0.5200069130862588	1.0	0.9929913785693728	4	O60934,Q92878,P49959	3
Mildly elevated creatine kinase	0.3645337089411143	0.6423908405840184	0.520619445332382	1.0	0.993019947097062	20	P50570,Q92734,P02545,Q9BUK6,P06753,P43243,P39210,Q9BPX6	8
Apraxia	0.309805546372783	0.6401247612234918	0.5220914922925068	1.0	0.993019947097062	59	Q9UGU0,P04062,P35637,Q9BVA1,Q00577,O43924,Q6DKK2,O14773,Q7LGA3,Q15233	10
Abnormal heart valve morphology	0.2946525489899205	0.639106594199245	0.5227535904167377	1.0	0.993019947097062	73	Q15233,P04062,Q9H3P2,P55795,P53701,P02545,P06753,P37268,P16278,P61978,P21964,O60826,O75431,O75844,P51812,P46100,Q9UHX1	17
Progressive inability to walk	0.3748466522956333	0.6344302998816995	0.5258000406713341	1.0	0.9933097414771302	17	Q15043,P21912,P00846	3
Hypercholesterolemia	0.4152691666160443	0.634359659666444	0.5258461299223236	1.0	0.9933097414771302	11	Q15904,Q8N511,O75431,P02545	4
Heterotaxy	0.5538346454740134	0.6341039209300979	0.5260130040874273	1.0	0.9933097414771302	4	Q9H3P2	1
External ophthalmoplegia	0.3585895492587052	0.6320833327873673	0.5273324256152421	1.0	0.9933097414771302	21	P50570,P03915,Q13586,P21912,P00403,Q8N183,P16219,Q07021	8
Abnormality of chromosome stability	0.4048811162940555	0.6314937726642345	0.527717719721803	1.0	0.9933097414771302	12	P33991	1
Abnormal circulating free fatty acid concentration	0.5527320675075047	0.6299534459015423	0.5287250434396538	1.0	0.9933097414771302	4	O75431	1
Abnormal fundus autofluorescence imaging	0.718617541571565	0.6261914731850607	0.5311893593837671	1.0	0.9933097414771302	2	Q8WWY3	1
Scapular winging	0.3477590471910765	0.6249474856503476	0.5320055249826985	1.0	0.9933097414771302	23	Q8TD16,P02545,Q9Y487,P07196,P50402	5
Truncus arteriosus	0.4133670848105851	0.6240342487313736	0.5326050930730162	1.0	0.9940011353760392	11	P21964	1
Increased intracranial pressure	0.3695206586676477	0.6223851244248488	0.5336886594968997	1.0	0.9948201384233772	18	P07602,Q969G3	2
Parkinsonism with favorable response to dopaminergic medication	0.439416958847823	0.621812531518043	0.5340651452356329	1.0	0.9948963154975188	9	P07602	1
Open mouth	0.3445634073941752	0.6210557038309029	0.5345629729454571	1.0	0.9949608336483056	30	P04062,P61978,P51812,Q00577,P46100,Q86XL3,Q15233	7
Hydranencephaly	0.7166612324747315	0.6194867785244305	0.5355957292426086	1.0	0.9951150038825934	2	Q92917	1
Progressive spastic quadriplegia	0.4479511421800169	0.6187369913628311	0.5360896367420656	1.0	0.9956262857812656	8	P07602,O43681	2
Anophthalmia	0.4259444373740061	0.6183242799055494	0.5363616000792657	1.0	0.995725123801312	10	P53701,Q8NAT1,O43505,O75569	4
Ankle clonus	0.3802811359000831	0.6152021112740786	0.538421253673528	1.0	0.996043769321136	14	P07602	1
Steroid resistant nephrotic syndrome	0.5005537094060561	0.6133930861151827	0.5396164565074932	1.0	0.996043769321136	5	Q8N1F7	1
Abnormal protein glycosylation	0.3679821925548977	0.6122556061154887	0.5403686565797365	1.0	0.996043769321136	18	Q8N511	1
Hydrocephalus	0.2949332714247282	0.6097212262730147	0.5420464911677381	1.0	0.996043769321136	76	P40855,P53701,Q969G3,Q10713,O60826,P21964,P07942,O00459,P23786,O43505,Q9Y5P6,Q8NAT1,Q8TAA9,Q15392,Q08J23,P16435,P04062,O96028	18
Reduced subcutaneous adipose tissue	0.4369155765212016	0.6094292201888208	0.5422399746811948	1.0	0.996043769321136	9	O75844,P02545	2
Abnormal large intestine physiology	0.3456372951893465	0.6092313287413537	0.5423711173217307	1.0	0.996043769321136	23	P07602,P21964	2
Abnormal circulating carbohydrate concentration	0.3405339654878488	0.6079212575923869	0.5432396999992699	1.0	0.996043769321136	39	O95831,O43676,Q96CU9,Q9BWD1,Q70HW3	5
Vertebral compression fracture	0.3738212997177949	0.607822070782934	0.5433054894632259	1.0	0.996043769321136	16	Q14108,Q32P28,Q96HY6	3
Athetosis	0.3736792895816254	0.6069271535048757	0.5438992570375722	1.0	0.996043769321136	16	O14949,Q96CU9,O00584	3
Abnormal metacarpal morphology	0.3419801580309248	0.604888403254903	0.5452531490507275	1.0	0.996043769321136	28	P51812,P16278,Q32P28,O43924	4
Insulin resistant diabetes mellitus	0.4447464659918714	0.6034782437713015	0.5461905845328923	1.0	0.996043769321136	8	O75844,P02545	2
Abnormal shoulder physiology	0.7011458213814239	0.6033806152555462	0.5462555148551245	1.0	0.996043769321136	3	P02545	1
Chorea	0.3031481481853276	0.6033391113749842	0.5462831192229669	1.0	0.996043769321136	86	P07602,P35637,O43681,P03915,Q9H6K4,O14936,P00846,Q01105,Q96N66,Q9BWD1,Q08J23,Q99720,Q9BPX6	13
Decreased calvarial ossification	0.545147174670366	0.6015865875713374	0.5474493590447618	1.0	0.996043769321136	4	O75844,P02545	2
Cutaneous cyst	0.7002609262883192	0.6005265792115958	0.5481553526522169	1.0	0.996043769321136	3	O60716,Q8TAA9	2
Retinal degeneration	0.3158533863251119	0.5986113228393068	0.5494321036594911	1.0	0.996043769321136	55	Q7Z4L5,Q96F07,P02545,O75503,P50897,Q13510,O14773,P68371,Q7LGA3,P04062	10
Zonular cataract	0.4219977874275933	0.5979702646340236	0.5498597741239193	1.0	0.996043769321136	10	P08670	1
Nephritis	0.3579995869893972	0.5973881790671562	0.5502482440945702	1.0	0.996043769321136	20	Q8N1F7,P35579,Q14C86,Q8NFH4,P57740,O43707,Q03252	7
Noncompaction cardiomyopathy	0.6991688588407381	0.5970099768584953	0.5505007196087068	1.0	0.996043769321136	3	Q15233	1
Intestinal malrotation	0.3393031478688849	0.5962465049894391	0.5510105623266881	1.0	0.996043769321136	25	P21964	1
Sepsis	0.3391416301914096	0.595015967660333	0.5518327975613815	1.0	0.996043769321136	25	P00813	1
Thyroid carcinoma	0.37429744229893	0.5936067702722841	0.5527751517357182	1.0	0.996043769321136	15	Q969G3,O14497,Q12824,P21912,Q92785	5
Peroneal muscle atrophy	0.697446400934566	0.5914761776698623	0.5542014122349039	1.0	0.996043769321136	3	Q9NR77	1
Poor wound healing	0.4950669323865438	0.5913024409328131	0.5543177943807069	1.0	0.996043769321136	5	O15269,P04062	2
Tachycardia	0.3383980128669813	0.589355458681319	0.5556228491653812	1.0	0.996043769321136	25	P02545,O43772,P23786,P41227,P21912,P36551,P42892,Q8NFF5,Q14BN4	9
Abnormality of complement system	0.5416566858623025	0.588645695286419	0.5560989737068165	1.0	0.996043769321136	4	P02545	1
Abnormality of somatosensory evoked potentials	0.695789744917575	0.5861686642983933	0.5577621771756747	1.0	0.996043769321136	3	P20700	1
Abnormality of the brainstem white matter	0.6952826618598611	0.5845470415688049	0.5588523257570697	1.0	0.996043769321136	3	P20700	1
Tetraparesis	0.3396780244950943	0.5841376689741865	0.5591276932047888	1.0	0.996144524253698	35	P07602,Q9H9P8,P35637,P00846	4
Cortical myoclonus	0.6940639269406343	0.5806552899636722	0.5614728005281355	1.0	0.998669418222023	3	P29992,O95394	2
Hamartoma	0.3662956993704573	0.5794529912774172	0.5622835570421039	1.0	0.998669418222023	17	P21912,P48735,O43924	3
Generalized onset seizure	0.3151871758765638	0.5768091041150285	0.5640684187604437	1.0	0.9994235200905142	103	P07602,P16278,O75503,Q14108,P61978,P03915,Q92796,O14936,P00846,Q13510,P51812,Q01105,Q96N66,Q00577,Q08J23,P04062	16
Abnormality of the cerebrospinal fluid	0.3455717216952451	0.5764116321053518	0.5643369838759402	1.0	0.9994235200905142	143	Q9NR77,P20700,P21964,P39210,P00846,O96000,Q08J23,Q10713,P07602,P40855,O00459,Q96CU9,Q9Y5P6,Q8NI60,Q03252,Q16625,Q15392,O96028,O95831,O43676,Q8NAT1,P00403,Q8TAA9,P16435,P53701,Q969G3,O60826,P03915,P07942,P23786,O43505,P04062,O43681	33
Large hands	0.404251039394364	0.5749423897178424	0.5653302600447958	1.0	1.0	11	P51812	1
Tritanomaly	0.6916049227172628	0.572827754245138	0.5667613250540482	1.0	1.0	3	Q9H6K4	1
Anomalous trichromacy	0.6916049227172628	0.572827754245138	0.5667613250540482	1.0	1.0	3	Q9H6K4	1
Abnormal right ventricle morphology	0.4463294140238233	0.5719693398078495	0.5673427463338396	1.0	1.0	7	Q15233	1
Contractures involving the joints of the feet	0.3542554448665428	0.5718301358406308	0.5674370588812647	1.0	1.0	20	P50402,Q8IZA0,Q08J23,P02545	4
Recurrent paroxysmal headache	0.416565437614332	0.5701476858903045	0.5685775345567639	1.0	1.0	10	P03915,P00403	2
Sporadic	0.3533859111548023	0.5659203656044153	0.5714479165108624	1.0	1.0	20	P51812,Q9BWD1,P04062,Q03252	4
Central nervous system cyst	0.3207441030654502	0.5657946187681577	0.5715334050178622	1.0	1.0	51	Q969G3,O60826,Q9Y487,P23786,Q99567,O43505,P00846,Q9Y5P6,Q8NAT1,Q9NQT5,Q9UHX1,P07437	12
Renal hypoplasia	0.3371867757325105	0.5648711011681379	0.5721614412500102	1.0	1.0	29	P21964,O43924,P46100	3
Paraparesis	0.334375467527058	0.564496322854365	0.5724164019674296	1.0	1.0	24	P35637,Q9H6K4,Q13510,Q6DKK2,P04062	5
Decreased cervical spine flexion due to contractures of posterior cervical muscles	0.4674747231938644	0.5644902618045622	0.5724205257272652	1.0	1.0	6	P50402,Q15149,P02545	3
Coloboma	0.3309127914025446	0.5639704644362854	0.5727742330317329	1.0	1.0	44	P78318,Q96EK5,P53701,O60826,P61978,O14936,O96028,O43505,P41227,Q9Y5P6,Q8NAT1,O43924,Q9H3P2,Q10713,Q9UHX1	15
Multiple gastric polyps	0.700032605151623	0.5634805037873218	0.573107732246041	1.0	1.0	2	P20585	1
Epidermoid cyst	0.7000326051516133	0.5634805037872899	0.5731077322460627	1.0	1.0	2	O60716	1
Muscle fiber inclusion bodies	0.4020821021411238	0.5633657032903263	0.5731858862791865	1.0	1.0	11	O43676,Q9Y5P6,P07196,P06753	4
Eeg with spike wave complexes	0.3824397944698684	0.5627606785881045	0.5735978592925912	1.0	1.0	13	Q14108	1
Elevated urinary carboxylic acid	0.4667635248820584	0.5614884701828735	0.5744645881174257	1.0	1.0	6	P36551,O96000	2
Vocal cord paralysis	0.356458984941676	0.5603600086830406	0.5752339035641847	1.0	1.0	19	Q9NR77,P50402,P02545	3
Hyperventilation	0.435397637620222	0.5593677963900227	0.5759107347692192	1.0	1.0	8	P03915,P00846	2
Ependymoma	0.687210386149605	0.5589230125951685	0.5762142631627742	1.0	1.0	3	O75874	1
Decreased circulating copper concentration	0.6984023475709112	0.5580891642957527	0.5767834994370078	1.0	1.0	2	Q15904	1
Asymmetry of the ears	0.6867343263076919	0.5574232955785465	0.5772382527753446	1.0	1.0	3	Q9UHX1	1
Hypertrophic cardiomyopathy	0.3148679173399296	0.5534762609195701	0.5799373316254071	1.0	1.0	105	P53701,Q9H061,P54802,P16278,P03915,P00846,O43676,Q96CU9,O96000,Q13423,P00403	11
Ventricular escape rhythm	0.4854376436369289	0.553005476545166	0.5802596600883603	1.0	1.0	5	P02545	1
Lymphoma	0.3341018723479701	0.5518373281497292	0.581059810009207	1.0	1.0	26	P00813,P46100	2
Median cleft palate	0.6964460384740736	0.5516441332749306	0.5811921929941566	1.0	1.0	2	Q14739	1
Prominent ear helix	0.5312299446210751	0.5504450245863967	0.5820141740446727	1.0	1.0	4	P02545	1
Functional motor deficit	0.3405358702420746	0.5502496860738947	0.5821481287275889	1.0	1.0	139	Q9NR77,P04062,Q8TD16,P00846,Q9BPX6,P07602,P35637,Q15067,Q13510,Q8NI60,Q9Y2R0,P50570,P00403,O14773,Q9NWM8,P35670,P53701,Q969G3,Q96F07,P61978,P03915,P07196,P23786,Q99720,O43681	25
Abnormal circulating proteinogenic amino acid derivative concentration	0.3468389022183107	0.5498362868051115	0.5824316675000596	1.0	1.0	21	P25705,P03915,P00846,P22695,O96000	5
Limb dystonia	0.3901346654373922	0.5493554550094614	0.5827615374025088	1.0	1.0	12	Q99720,P35637	2
Sarcoma	0.3087355022039104	0.5485084301759928	0.5833428423589904	1.0	1.0	56	Q969G3,Q13126,Q15392,Q92804,P02545,Q07954,P48735,P21912,P46783,Q01844	10
Short ribs	0.4326604286093882	0.5465751298539286	0.5846706591617681	1.0	1.0	8	Q96HY6	1
Abnormal endocrine physiology	0.4627490345007914	0.5446122338951556	0.5860202388669848	1.0	1.0	6	Q13423,P16435	2
Thickened nuchal skin fold	0.398349754605755	0.5435453329325027	0.5867543872619614	1.0	1.0	11	P61978,P40855,O75381,P56589	4
Hypoplastic fifth toenail	0.4318283138722337	0.5426977976043017	0.5873378908684557	1.0	1.0	8	O14497,Q969G3,Q92785	3
Abnormality of the umbilical cord	0.4315801823347291	0.5415426709332829	0.588133594443013	1.0	1.0	8	O75844,P16435,P02545	3
Cerebral inclusion bodies	0.3976961513753543	0.5400880267893385	0.5891363274311301	1.0	1.0	11	O15118,P22626	2
Cervical spinal canal stenosis	0.6928594717965609	0.5398990254948975	0.5892666699838887	1.0	1.0	2	Q9NSE4	1
Simplified gyral pattern	0.3335249153426892	0.5394571446317152	0.5895714598968402	1.0	1.0	28	Q5KU26,Q969G3,P20700,O14936,Q9UPT5,Q03252,Q86XL3	7
Chromosome breakage	0.4225827352324669	0.5393379267281739	0.5896537035924045	1.0	1.0	9	P33991	1
Misalignment of incisors	0.4612757653092201	0.5384485296001041	0.5902674301710373	1.0	1.0	6	P46100	1
Aplasia hypoplasia involving the sinuses	0.4813528529228578	0.5369546737540957	0.591298923584872	1.0	1.0	5	P46100	1
Long palpebral fissure	0.3310584240682965	0.5339370748174126	0.5933850703173595	1.0	1.0	25	Q5KU26,P20700,P61978,Q92796,O00459,P51812,Q00577,Q01082	8
Abnormally large globe	0.4295154280416492	0.5319499608367055	0.5947606530654153	1.0	1.0	8	O14936,O75431	2
Glomerulonephritis	0.3586272878103194	0.5308731988288448	0.5955066512412353	1.0	1.0	17	Q8N1F7,Q14C86,Q8NFH4,P57740,O43707,Q03252	6
Fatty replacement of skeletal muscle	0.4367896116468465	0.529063172271821	0.5967616278423737	1.0	1.0	7	P51114,P22626	2
Ineffective esophageal peristalsis	0.4589485423898116	0.5287456072597068	0.5969819346770009	1.0	1.0	6	Q9NSE4	1
Fragile nails	0.3861933185563867	0.527754901038972	0.5976694626353867	1.0	1.0	12	Q9Y487	1
Limited elbow movement	0.332939696652566	0.5270359672739715	0.5981686117571428	1.0	1.0	33	P37268,P02545,P06753,Q9H6K4,P23786,P50402,Q7LGA3,P16435	8
Motor axonal neuropathy	0.3654881936659047	0.5264645186179123	0.5985654982655686	1.0	1.0	14	O95831	1
Gastrointestinal hemorrhage	0.3317533787313552	0.5258950411318506	0.598961134546423	1.0	1.0	28	P21964,Q9UHX1,P46100	3
Calcification of the aorta	0.5241787600972121	0.5250255069097337	0.5995654595062214	1.0	1.0	4	P04062	1
Skin appendage neoplasm	0.5235442693405894	0.5227554825468436	0.6011444227081426	1.0	1.0	4	P25054,P43246	2
Abnormality of the ureter	0.3015056550315692	0.5223943277644573	0.6013958045345942	1.0	1.0	58	P16435,P02545,P61978,P21964,O14936,P09471,P23786,P41227,P21912,O75844,P46100,Q8TAA9,Q86XL3,Q7LGA3,Q9UHX1	15
Impacted tooth	0.6752081482659726	0.5215210388950573	0.6020038533130871	1.0	1.0	3	P02545	1
Mottled pigmentation	0.6752081482659726	0.5215210388950573	0.6020038533130871	1.0	1.0	3	P02545	1
Limitation of movement at ankles	0.6752081482659726	0.5215210388950573	0.6020038533130871	1.0	1.0	3	P02545	1
Unilateral renal agenesis	0.3567440896617424	0.5190600717719671	0.6037188510216231	1.0	1.0	17	Q86XL3,Q7LGA3,Q9UHX1	3
Abnormality of the bladder	0.3142698934776398	0.5175174355220546	0.6047950009193896	1.0	1.0	108	Q9NR77,P21964,P46100,Q9UHX1,P07602,P35637,Q92796,P50570,P56589,P51812,P22626,Q9NWM8,Q969G3,P61978,P07196,Q99720,Q86XL3,P04062,O43681	19
Duplication of hand bones	0.3157272223614398	0.5172630123186757	0.6049725702910882	1.0	1.0	51	Q7Z4L5,Q10713,P46783,O60826,P61313,P21964,Q15067,O00459,P57740,P41227,P98175,O43924,Q9H3P2,P98172,Q9UHX1,O96028	16
Abnormality of humoral immunity	0.3008372829876334	0.5153055373007956	0.606339530146784	1.0	1.0	58	P28070,P14174,P02545,Q14108,P09601,P00813,Q03252,P04062	8
Symphalangism affecting the phalanges of the hand	0.6729005087774376	0.5144304945919866	0.6069510434941969	1.0	1.0	3	Q15233	1
Proximal symphalangism	0.6729005087774376	0.5144304945919866	0.6069510434941969	1.0	1.0	3	Q15233	1
Entropion	0.40546501241731	0.5140717537315436	0.6072018249396796	1.0	1.0	10	P02545	1
Shawl scrotum	0.45487638505963	0.5118691258489831	0.6087426072820399	1.0	1.0	6	P46100	1
Attenuation of retinal blood vessels	0.4546011690042282	0.510733316778989	0.6095378080739173	1.0	1.0	6	P50213,O43837,P04439	3
Thickened calvaria	0.4165345142567611	0.5102556350126782	0.6098723797334038	1.0	1.0	9	P51812,P16278	2
Vomiting	0.3055245663151807	0.510152169541187	0.6099448584231661	1.0	1.0	98	P07602,P61978,P03915,P39210,P00846,O43676,Q96CU9,O96000,Q13423,P00403,P46100,Q9Y584,P11117	13
Abnormality of the extraocular muscles	0.6709067188519046	0.5083314122396179	0.611220944267211	1.0	1.0	3	P43243,Q9BVA1	2
Brittle hair	0.354420895336925	0.5045551232987057	0.6138713363360566	1.0	1.0	17	Q9Y487	1
Abnormality of lower limb epiphysis morphology	0.3595790159355774	0.5042491338718833	0.6140863170753157	1.0	1.0	15	O95831,Q7LGA3	2
Abnormality of the proximal phalanx of the thumb	0.6817737202478167	0.5041970512119393	0.6141229123913325	1.0	1.0	2	Q15233	1
Symphalangism of middle phalanx of finger	0.6817737202478167	0.5041970512119393	0.6141229123913325	1.0	1.0	2	Q15233	1
Focal onset seizure	0.291338729015516	0.5025115241367246	0.6153077480836311	1.0	1.0	82	P07602,Q969G3,O75503,P03915,Q9BVA1,O14936,Q9UPT5,Q01105,Q96N66,Q00577,P00403,Q08J23,Q9UBX3	13
Large placenta	0.6689094129248734	0.5022471323733048	0.615493692558321	1.0	1.0	3	P02545	1
Fetal distress	0.3267046974308348	0.5014884102524138	0.6160274324348629	1.0	1.0	25	O43676,Q96CU9	2
Abnormal paranasal sinus morphology	0.3258294725254949	0.5009564991635703	0.6164017381984559	1.0	1.0	24	P00813,Q03519,P46100	3
Ectopic calcification	0.2994439825417532	0.5005657890758132	0.6166767443872965	1.0	1.0	58	P35670,O00584,P02545,O75381,P03915,P23786,O75431,P56589,O75844,P00403,Q16625,P04062	12
Childhood onset	0.3287241907108753	0.4997345884643421	0.6172619742487035	1.0	1.0	37	Q9NR77,P22830,Q14566,O75431,P50402	5
Very long chain fatty acid accumulation	0.4517956565671357	0.4991905460528306	0.6176451540814607	1.0	1.0	6	O75381,P56589	2
Hepatoblastoma	0.4024600728057043	0.4990893393659875	0.6177164474372239	1.0	1.0	10	Q969G3,O14497,Q12824,Q92785,P25054	5
Sleep apnea	0.3393945219777917	0.498736078354895	0.6179653244599472	1.0	1.0	21	Q93009,P51114,Q16531,Q96A33,P51812,Q15233	6
Abnormal circulating dicarboxylic acid concentration	0.3262819942187053	0.4985747281200625	0.6180790124099906	1.0	1.0	41	P40855,P37268,P41440,O14936,P23786,P22695,P36551,Q9H9P8,P55263,P48735,Q01082	11
Anterior uveitis	0.6668924603364841	0.4961293080055108	0.6198031825889154	1.0	1.0	3	P14174	1
Abnormal atrioventricular valve physiology	0.3241652451681387	0.4951879234043399	0.6204674744875815	1.0	1.0	43	P53701,P04062,P02545,Q15904,P06280,O00459,O75431,O75306,O75844,P51812,P46100,Q15233	12
Abnormal sella turcica morphology	0.4291375227871147	0.4951747927593306	0.6204767423723259	1.0	1.0	7	P16278	1
Dermal translucency	0.4291010103310965	0.4950143017087865	0.6205900251921737	1.0	1.0	7	P02545	1
Moderate sensorineural hearing impairment	0.4131542837356829	0.4941451596091532	0.6212036665816878	1.0	1.0	9	P51812	1
Constipation	0.2923641914579036	0.4941028976601096	0.6212335115571928	1.0	1.0	84	Q9UGU0,P78318,P20700,P21964,P49366,P21912,P42892,P46100,Q7LGA3,O00592,P36551,Q03252,P50336,P55795,Q13423,P00403,Q03164,Q8TAA9,P16435,P37268,P61978,P03915,P04062	23
Vascular neoplasm	0.3285585264482251	0.4923393333057422	0.6224794786096322	1.0	1.0	33	P50570,P16435,O60826,P21912,Q9H3P2,P10619,P48735,Q7LGA3,Q9UHX1	9
Multifocal epileptiform discharges	0.3272963462601057	0.4920246214657867	0.6227019379891892	1.0	1.0	28	O75503,O14936,P09471,Q96N66,Q08J23,Q9UBX3	6
Abnormality of the ribs	0.2961400060239594	0.4916070042372943	0.6229971909657874	1.0	1.0	59	P50570,Q7Z4L5,O95831,Q32P28,P54802,P16278,P02545,O75431,P00813,O75844,Q96HY6,Q9UHX1	12
Brain imaging abnormality	0.3283346814240597	0.4908892234979657	0.6235047994356568	1.0	1.0	34	P07602,Q969G3,P03915,Q00577,P00403	5
Coronary artery atherosclerosis	0.5134669041461494	0.4871056209012727	0.6261834832978543	1.0	1.0	4	P02545	1
Thoracic hypoplasia	0.3273525894662836	0.48651985331141	0.6265986326841855	1.0	1.0	30	Q7Z4L5,P04062,Q14739,P02545,P06753,Q92796,Q96A33,P41227,Q96HY6,P16435,Q9UHX1	11
Eyelid myoclonus	0.3994700316513336	0.4842718350452021	0.6281929617210089	1.0	1.0	10	Q13510,P00374,Q01105	3
Diffuse cerebral atrophy	0.3558904750735533	0.4822949002997118	0.6295964694905274	1.0	1.0	15	P07602,O14936,P16278,Q10713	4
Adenocarcinoma of the small intestine	0.6621004566209864	0.4817022410394314	0.630017483856129	1.0	1.0	3	P25054,P78549	2
Duodenal adenocarcinoma	0.6621004566209864	0.4817022410394314	0.630017483856129	1.0	1.0	3	P25054,P78549	2
Abnormal pulmonary valve morphology	0.3531426642380185	0.4800392776483521	0.6311994643324621	1.0	1.0	16	P21964	1
Abnormality of the 2nd toe	0.3982695988889865	0.4783492415500308	0.6324016543103572	1.0	1.0	10	P51812	1
Brushfield spots	0.5108523686629537	0.4779854666141351	0.6326605491623156	1.0	1.0	4	O75381,P56589	2
Coxa valga	0.3359130839324771	0.4751487933670984	0.634680922363072	1.0	1.0	21	P16278,P02545,P51812,O75844,P46100	5
Proximal muscle weakness in lower limbs	0.346674371826642	0.4749890824345545	0.6347947549585338	1.0	1.0	18	P35670,P50570,P07196,P02545	4
Abnormal insulin level	0.3270685799271815	0.4745247408888033	0.6351257594515118	1.0	1.0	23	O75844,P02545,P53985	3
Abnormal response to endocrine stimulation test	0.5098232189063691	0.4744106932288975	0.635207069147399	1.0	1.0	4	Q13423	1
Abnormal urine cytology	0.3261372152274598	0.4744026134119755	0.6352128297784438	1.0	1.0	35	Q8N1F7,Q14108,P09601,P06280,P21912,Q03252,O15460,Q01082,P04062	9
Slow saccadic eye movements	0.3974299044344052	0.4742155901959579	0.6353461770571376	1.0	1.0	10	Q8IV08	1
Shortening of all distal phalanges of the fingers	0.3850538777992137	0.4740863888288453	0.6354383043500227	1.0	1.0	11	P51812,Q92796	2
Emotional lability	0.3056443166524179	0.4737984539612119	0.6356436371825325	1.0	1.0	54	P07602,Q969G3,Q92804,P35637,Q96CU9,Q15165,Q96CV9,O43681	8
Progressive spastic paraplegia	0.3247568403825726	0.4728967234007733	0.636286862715058	1.0	1.0	28	P00846	1
Death in infancy	0.2991242261689459	0.4726801302353454	0.6364414045719053	1.0	1.0	57	O43819,P51114,P02545,O75718,P46100,Q6PJG6,P07602,P40855,Q9Y5S9,Q15904,O75381,Q15067,Q5JTZ9,P50570,P56589,Q9BT22,Q15149,P16278,O60826,P04062	20
Generalized amyotrophy	0.3234967523985979	0.4723888222779291	0.636649281291449	1.0	1.0	26	P35637,P02545,P06753,Q99567,Q9Y5P6,Q03252,P22626	7
Short columella	0.6713400717313373	0.47147104464577	0.6373043923783264	1.0	1.0	2	P41227	1
Abnormality of the nasal bone	0.5086460032626262	0.4703322503468446	0.6381176596261757	1.0	1.0	4	Q6NUK1,O14974,P35222	3
Poor gross motor coordination	0.6577864275577867	0.4688473987070334	0.6391787172144454	1.0	1.0	3	O75503	1
Acute phase response	0.3220731556748309	0.4673581962755877	0.6402436260088344	1.0	1.0	25	P28070,P14174,O15460,P41440	4
Ulnar deviation of the wrist	0.6572179944164991	0.4671631985017218	0.6403831212530284	1.0	1.0	3	P16278	1
Exodeviation	0.3211366615819894	0.4666283207189155	0.6407658211374059	1.0	1.0	24	P55795,P46100,Q9UEY8,P98172,Q15233,Q9UHX1	6
Cystic hygroma	0.4224095959432005	0.4658076917908532	0.6413531588902075	1.0	1.0	7	P61978,Q99567	2
Bulbar palsy	0.395575643053433	0.465114615177158	0.6418493802592575	1.0	1.0	10	O43681,P35637,P06753	3
Macular atrophy	0.443318069619177	0.464721028231737	0.6421312475470027	1.0	1.0	6	P04062,P04439	2
Retinal detachment	0.3527291888918639	0.4636366821115644	0.6429080686119562	1.0	1.0	15	Q9Y5P6,Q8NAT1,O43505,P04439	4
Cervical ribs	0.655078649042991	0.4608449083696273	0.6449098795887096	1.0	1.0	3	Q9UHX1	1
Abnormal morphology of the conjunctival vasculature	0.4138424857014644	0.4603544832711994	0.6452618000410464	1.0	1.0	8	P10619,P06280	2
Paranoia	0.4610756217678796	0.4592140855075533	0.6460804365862041	1.0	1.0	5	P36551,P50336	2
Infantile axial hypotonia	0.373216109589581	0.4578782730766519	0.6470398971727949	1.0	1.0	12	P07602	1
Aplasia hypoplasia of the clavicles	0.373083403825743	0.4571744527266415	0.647545659365341	1.0	1.0	12	P41227,O75431,P02545,O75844	4
Thick corpus callosum	0.6531940795045108	0.4553059408611304	0.6488891528422818	1.0	1.0	3	Q15233	1
Abnormal sternal ossification	0.6530863691304956	0.4549901344825172	0.6491163363456618	1.0	1.0	3	O96028	1
Congenital contracture	0.3215549045308438	0.4529696515569203	0.6505705949138225	1.0	1.0	40	P50570,Q8TD16,P02545,Q99567,Q96A33,Q9UPT5,O75844,Q15392,P04062	9
Resting tremor	0.3460192731651222	0.4527761321870036	0.6507099519615545	1.0	1.0	17	P07602,Q9H6K4,Q9BPX6	3
Lateral clavicle hook	0.6651450929246794	0.4524652937175282	0.6509338183235873	1.0	1.0	2	Q9Y5S9	1
Pectus excavatum	0.2818090817717444	0.4514945235620208	0.6516331711882666	1.0	1.0	76	P78318,P02545,Q9BUK6,Q96A33,P41227,P21912,P98175,Q08J23,Q7LGA3,Q9UHX1,P07437,Q9Y487,P06753,O75431,P51812,Q03164,P61978,P50402,P04062	19
Tented upper lip vermilion	0.3322942058277108	0.4508595749933721	0.6520907605859676	1.0	1.0	21	Q9UGU0,Q00577,Q96F07,P46100	4
Urinary incontinence	0.3204490053967055	0.4492517459606723	0.6532500628815667	1.0	1.0	41	P50570,P07602,Q969G3,P35637,Q92796,P07196,P51812,Q99720	8
Hiatus hernia	0.4582779206027093	0.4487648298759638	0.6536013121773414	1.0	1.0	5	Q8NBU5	1
Loss of eyelashes	0.6504377942051847	0.4472508556591437	0.6546939460544519	1.0	1.0	3	P02545	1
Cirrhosis	0.321755421946696	0.4461460178851791	0.6554917737487618	1.0	1.0	38	P35670,Q14108,P22830,P39210	4
Abnormal facial expression	0.3223426573742737	0.4446175023701537	0.6565961968584682	1.0	1.0	32	Q9NR77,P50570,Q9BUK6,Q15043,P06753,Q00577,P04062,O00592	8
Lower limb muscle weakness	0.3171225353018174	0.442518936002477	0.6581137307036626	1.0	1.0	44	Q9NR77,Q13510,P07196,P00846	4
Abnormal meningeal morphology	0.3307310758774513	0.4404442470237247	0.6596153840888062	1.0	1.0	21	Q15904,P21964,Q9Y5P6,Q10713,Q9UHX1	5
Abnormal magnesium concentration	0.4372451191872922	0.4404315757346392	0.6596245597513459	1.0	1.0	6	P53680,P61457	2
Hydroureter	0.3903782944110474	0.4398119484363562	0.660073313017095	1.0	1.0	10	P41227,Q7LGA3	2
Abnormality of metacarpophalangeal joint	0.4996562432283632	0.4395734221524466	0.6602460937457253	1.0	1.0	4	Q15233	1
Impairment of activities of daily living	0.3000791276210847	0.4385910639074666	0.660957873165867	1.0	1.0	55	P50570,P07602,Q969G3,P35637,P21964,Q92796,P07196,P51812,Q99720	9
Everted upper lip vermilion	0.4992448650385396	0.4381826767916121	0.6612538652335593	1.0	1.0	4	P04062	1
Arthrogryposis multiplex congenita	0.3216012596197102	0.4378884228548933	0.6614671683418711	1.0	1.0	34	Q8TD16,P02545,Q99567,Q9UPT5,O75844,Q15392,P04062	7
Cavernous hemangioma	0.4988849266856849	0.4369670712142521	0.6621352289287117	1.0	1.0	4	P50570	1
Obstructive sleep apnea	0.3686509804283511	0.4338024393212168	0.6644319100955802	1.0	1.0	12	Q15233,P51114,Q96A33	3
Abnormal ileum morphology	0.359296028617808	0.4330259711521385	0.6649959022491185	1.0	1.0	13	P51812	1
Metaphyseal widening	0.3398533835067663	0.4324805026200183	0.665392219913542	1.0	1.0	18	O95831,P16278	2
Absent nipple	0.6582980110857478	0.4318448561605673	0.6658541755540937	1.0	1.0	2	P10586	1
Upper eyelid coloboma	0.6582980110857464	0.4318448561605633	0.6658541755540965	1.0	1.0	2	Q13428	1
Abnormal aortic valve morphology	0.3193854506524269	0.4269589462012994	0.6694092300200161	1.0	1.0	38	P37268,P04062,P02545,P61978,P21964,P06280,O75844,P51812,Q9UHX1	9
Eruption failure	0.4132021445549979	0.4263309285741468	0.6698667240875087	1.0	1.0	7	P02545	1
Abnormal cartilage morphology	0.3746757953462692	0.4212956232788782	0.6735392257920334	1.0	1.0	11	P48735,Q7LGA3	2
Chronic diarrhea	0.327811434000066	0.42111921726799	0.6736680294249522	1.0	1.0	21	P00813,Q08J23,Q96A33,Q13510	4
Abnormal venous morphology	0.3171671877982506	0.420979425022965	0.6737701061500749	1.0	1.0	27	P98175,Q9Y487,P21964,P02545	4
Multifocal cerebral white matter abnormalities	0.4506580289345119	0.4206793667505299	0.6739892299028298	1.0	1.0	5	P10253	1
Dysmetria	0.2979905976257124	0.4179071480748919	0.6760150060934185	1.0	1.0	55	P41440,Q8IV08,O75503,O75027,O14773,Q6DKK2	6
Chronic axonal neuropathy	0.6534072383436549	0.4173724719525226	0.6764059868398455	1.0	1.0	2	O15269	1
Abnormal pulmonary interstitial morphology	0.3177806854612981	0.4172735958278941	0.6764782993532252	1.0	1.0	29	Q14108,Q8IZA0,P09601,Q13510	4
Abnormality of canine	0.6524290837952362	0.4145042373036753	0.6785048644742269	1.0	1.0	2	P25054	1
Posteriorly rotated ears	0.2997233425708073	0.4128092988366694	0.6797463380290782	1.0	1.0	101	Q9UGU0,Q99567,P41227,P98175,O43924,P42892,P46100,Q08J23,Q7LGA3,Q9UHX1,P07437,P40855,Q13868,O75381,Q14004,Q15392,Q4J6C6,P56589,Q8NAT1,Q9H3P2,P16435,P37268,P23786,O43505,P04062	25
Cutis marmorata	0.3418198719178349	0.4126750063759121	0.6798447389899622	1.0	1.0	16	P51812	1
Hypochromic anemia	0.3551287314752936	0.4104489409423453	0.6814766512523882	1.0	1.0	13	P46100	1
Fatiguable weakness of proximal limb muscles	0.447693130738833	0.4099053576323503	0.6818753750614308	1.0	1.0	5	Q13586,P06753	2
Abnormal sternum morphology	0.3018465119362281	0.4091720001370982	0.6824134409177363	1.0	1.0	104	P78318,Q7Z4L5,P02545,Q9BUK6,Q96A33,P41227,P21912,P98175,P98172,Q08J23,Q7LGA3,Q9UHX1,P07437,P17480,Q9Y487,Q13510,O96028,O95831,P55795,P06753,P57740,O75431,P51812,Q03164,P16278,P61978,P50402,P04062	28
Tissue ischemia	0.3329646571156962	0.4088843565155056	0.6826245297198466	1.0	1.0	19	O75844,O15460,P02545	3
Joint hemorrhage	0.6504727746983988	0.4087943720692878	0.6826905703835993	1.0	1.0	2	P49257	1
Wide cranial sutures	0.4086566455726994	0.407170491908238	0.6838827725654699	1.0	1.0	7	P98175,P02545	2
Hip contracture	0.3717526710451068	0.4066810511369239	0.6842422594894035	1.0	1.0	11	Q8TD16,Q7LGA3	2
Papillary renal cell carcinoma	0.4463750180164669	0.4051442098538551	0.6853715112204617	1.0	1.0	5	P02545	1
Diaphyseal thickening	0.6355674726905156	0.404771759040565	0.6856452893801226	1.0	1.0	3	Q14739	1
Renal dysplasia	0.3628764532899772	0.4037687607289534	0.686382770505662	1.0	1.0	12	O43819,O14936,P09471,O43505,O75306	5
Absent septum pellucidum	0.3171131598596963	0.4036148083189267	0.6864959945610858	1.0	1.0	33	P53701,Q15392,Q08J23	3
Spinal muscular atrophy	0.3710418266562055	0.4031450644507723	0.686841510418067	1.0	1.0	11	Q99720,Q13510	2
Abnormal anterior horn cell morphology	0.4271316979676758	0.4007937653209855	0.6885719695120662	1.0	1.0	6	Q92734,Q16637,Q13510	3
Pulmonary fibrosis	0.331580139362027	0.4002615431048984	0.6889638898259012	1.0	1.0	19	P14174,P09601,Q8IZA0	3
Generalized limb muscle atrophy	0.3999176368456888	0.3988111930541748	0.6900323289923744	1.0	1.0	8	Q9Y5P6,P06753	2
Abnormal size of the palpebral fissures	0.2838738204559669	0.3940441769773801	0.6935484237973011	1.0	1.0	84	Q5KU26,Q9UGU0,P55795,P02545,Q13868,P61978,Q92796,P51812,P38159,P98175,O75844,Q00577,Q03164,Q14004,Q08J23,Q7LGA3,Q9UHX1,P07437	18
Premature skin wrinkling	0.3305399371848415	0.3938086644600038	0.6937223069778036	1.0	1.0	19	Q9Y487,P02545	2
Brisk reflexes	0.3150462299138958	0.3907085542565738	0.6960126751088695	1.0	1.0	23	P35637,Q10713,Q5JRX3,Q8NI60,Q99720	5
Slender build	0.3601358711741604	0.389689056299391	0.696766489855043	1.0	1.0	12	Q15233,P06753	2
Abnormal jejunum morphology	0.6436256928594702	0.3890938933114609	0.6972066906926317	1.0	1.0	2	P49454	1
Abnormality on pulmonary function testing	0.3259112749562348	0.3853750059959647	0.6999595976060689	1.0	1.0	20	Q969G3,P16278,Q9BQT8	3
Low frustration tolerance	0.3894921659321657	0.3846973470866808	0.7004616609426062	1.0	1.0	9	Q9UHX1,Q03164	2
Emg slow motor conduction	0.64199543527877	0.3844695708151979	0.7006304450300189	1.0	1.0	2	O15269	1
Penetrating foot ulcers	0.64199543527877	0.3844695708151979	0.7006304450300189	1.0	1.0	2	O15269	1
Trophic changes related to pain	0.64199543527877	0.3844695708151979	0.7006304450300189	1.0	1.0	2	O15269	1
Epiretinal membrane	0.6272015655577121	0.3816354813360422	0.7027317623791112	1.0	1.0	3	P25054,P04439	2
Abnormality of the metaphysis	0.3076187392472382	0.3782778187873574	0.7052242213939213	1.0	1.0	46	O95831,Q13126,P16278,P00813,Q96HY6,P48735	6
Absent facial hair	0.3773144121621733	0.3776796414464791	0.7056685933457181	1.0	1.0	10	Q07954,P02545	2
Scrotal hypoplasia	0.3332441044566923	0.3763564510545351	0.7066519170262309	1.0	1.0	17	P46977,Q8TCJ2,P07437,P46100	4
Long toe	0.3769423888054649	0.3759434792958996	0.706958915707703	1.0	1.0	10	P23786	1
Oligosacchariduria	0.4800418198264682	0.3750238300089406	0.7076427441133177	1.0	1.0	4	P10253,P16278	2
Abnormal brain positron emission tomography	0.4800278733230196	0.3749792740836093	0.7076758807896222	1.0	1.0	4	Q969G3	1
Cortical dysplasia	0.3122526859758282	0.3733161377704796	0.7089131670236652	1.0	1.0	30	Q13885,Q9BVA1,O43505,Q96N66,Q08J23,P07437	6
Ophthalmoparesis	0.2730219556702477	0.3691874682723429	0.7119879960054509	1.0	1.0	74	O43819,Q9Y4W6,Q13586,P00846,P21912,P16219,O15460,O43172,Q10713,Q9BPX6,Q9UNE7,Q96CU9,Q07021,P50570,P06753,Q12824,Q86U42,P00403,Q8N183,Q15149,Q969G3,P03915,O75306,Q8WWY3,P04062	25
Abnormal nasal base	0.3640748902381051	0.3688785338024577	0.7122182643049966	1.0	1.0	11	O14497,Q969G3,Q92785,Q13868	4
Abnormal mitral valve physiology	0.3121622364506498	0.3677119515692145	0.7130880279393932	1.0	1.0	32	P53701,P02545,P06280,O75431,O00459,O75306,P51812,O75844,P04062	9
Increased susceptibility to fractures	0.2997099684096206	0.3665971776044227	0.7139195138106298	1.0	1.0	51	P35670,Q13126,Q32P28,P06753,Q14108,P39210,Q9H4A3,P48735,P22626,P04062	10
Broad based gait	0.3193841904151214	0.366352799527771	0.7141018356014186	1.0	1.0	21	Q00577,O14773,P98175,Q03164	4
Fetal ultrasound soft marker	0.3337203928060318	0.3658832610649193	0.7144521873520622	1.0	1.0	16	P40855,O60826,P61978,O75381,P56589,P16435	6
Cranial hyperostosis	0.3466162429438303	0.365210416865619	0.7149543430296512	1.0	1.0	13	Q15043,P51812	2
Vascular calcification	0.4347503303593438	0.3639541531525598	0.7158922453023426	1.0	1.0	5	P04062	1
Vitritis	0.6204430805615111	0.3633671871791101	0.7163306098850137	1.0	1.0	3	P53701	1
Type i diabetes mellitus	0.3547038410305013	0.3621342111828751	0.7172517393465703	1.0	1.0	12	P03915,P00403	2
Hyperlordosis	0.3020710166961108	0.3617216272000905	0.7175600637576935	1.0	1.0	49	P50570,Q8TD16,P55795,P02545,P06753,P16278,P41227,P50402,Q9Y5P6,Q9NSE4,Q96HY6,Q9H4A3,P22626	13
Abnormal palmar dermatoglyphics	0.2939145067560362	0.3597656771204188	0.7190223725730756	1.0	1.0	54	P40855,P61978,Q9Y487,O75381,Q99567,O75431,P57740,P56589,P41227,P51812,P98175,Q8WVM7,Q9UHX1,O96028	14
Apnea	0.2774356263251085	0.3595049869884505	0.7192173477645034	1.0	1.0	80	P07602,P04062,O43772,P25705,P03915,P23786,P00846,Q96CU9,P51812,P98175,Q00577,O43924,Q15233	13
Cholangitis	0.632213889794583	0.3572747304811208	0.7208861454625668	1.0	1.0	2	Q96J02	1
Wide anterior fontanel	0.3138839209052156	0.355259414361354	0.722395257544274	1.0	1.0	22	P40855,Q32P28,O75381,Q9Y487,P56589,Q08J23	6
Hypopigmentation of the skin	0.3081872989943357	0.3534520038902524	0.7237496049053642	1.0	1.0	42	P07602,Q8IZA0,P21964,P53701	4
Restlessness	0.309403478582189	0.3504245286296231	0.7260201207862804	1.0	1.0	39	Q96CV9,Q92804,P35637,O96008,P35610,Q15165,P42892,P50995,P48449,Q01082,P04062,O00592	12
Abnormality of bladder morphology	0.3811016837528499	0.3475042306142175	0.7282125407440483	1.0	1.0	9	Q9NWM8	1
Prominent supraorbital ridges	0.3593227720756733	0.3459321873157938	0.7293936783367763	1.0	1.0	11	P51812	1
Osteolysis	0.3066567678412924	0.3456825792023144	0.7295812778447459	1.0	1.0	27	P02545,Q14108,O75431,O75844,P48735,P22626,P04062	7
Retinal fold	0.6269970655363497	0.3431669782306739	0.7314728454967832	1.0	1.0	2	P52732	1
Abnormal urinary electrolyte concentration	0.3296045707750669	0.3426053140756823	0.7318954037283221	1.0	1.0	16	Q13423	1
Decreased muscle mass	0.3326241411715799	0.3402903839211675	0.7336378580508547	1.0	1.0	14	Q9Y487,P04066,O96028	3
Abnormal rib cage morphology	0.2684811026393577	0.337268703086896	0.7359143502867238	1.0	1.0	72	Q7Z4L5,P02545,P00813,P41227,P15586,Q96HY6,P98172,Q9UHX1,O75844,O96028,P50570,O95831,Q32P28,O75431,P04066,Q03164,Q9H3P2,Q8TAA9,P16435,Q14739,P54802,P16278,O60826	23
Abnormal vertebral morphology	0.2928337564944703	0.333606872667563	0.7386762314645221	1.0	1.0	101	P00813,Q96HY6,P46100,Q9UHX1,Q10713,Q14108,Q6NUQ1,O96028,O95831,Q32P28,P57740,P04066,P51812,Q9NSE4,Q9H3P2,Q8TAA9,P16435,P54802,P16278,O60826,P61978,P10619,P48735,P04062	24
Secondary microcephaly	0.2679956518240211	0.331712117669853	0.7401066497171005	1.0	1.0	72	Q5KU26,P55795,Q15043,Q9Y487,O14936,P50897,Q13813,Q96CU9,O15121,Q9UHX1	10
Reduced visual acuity	0.3045517583034012	0.3311368775530718	0.7405410972064297	1.0	1.0	116	Q15043,P00846,P41227,O96000,P21912,P46100,Q10713,Q9UHX1,P07602,Q9H061,O00459,P50897,Q96CU9,P68371,Q9H6K4,P36404,O43676,P53701,Q969G3,P16278,P06865,O43505,O43681	23
Abnormally folded helix	0.3274455640692807	0.3305383620880793	0.7409932111488069	1.0	1.0	16	P21964	1
Bilateral tonic clonic seizure	0.2740075352128227	0.3301822696212055	0.7412622430889213	1.0	1.0	79	P07602,P03915,Q92796,Q13510,P00846,P51812,Q01105,Q00577,P00403,P27544,P04062	11
Arteriovenous malformation	0.4655791190864543	0.3299252988742587	0.7414564070860459	1.0	1.0	4	Q9BXW9,Q9NVI1,P08236	3
Atrial arrhythmia	0.3895589042267127	0.3293342302412549	0.7419030738778774	1.0	1.0	7	P02545	1
Abnormal pulmonary thoracic imaging finding	0.3197902901931083	0.3284958773107105	0.742536760936966	1.0	1.0	19	P21964	1
Aplasia hypoplasia of the earlobes	0.3555001421191756	0.3277410850465218	0.7431074361944638	1.0	1.0	11	P21964	1
Supernumerary nipple	0.3663570719975691	0.327389709081962	0.7433731489535895	1.0	1.0	10	P61978,Q7LGA3	2
Abnormality of ocular smooth pursuit	0.313160899951509	0.3269713816675536	0.7436895306865376	1.0	1.0	21	O14773,P41440	2
Decreased absent ankle reflexes	0.3473995565878958	0.3258692707284054	0.7445232661340664	1.0	1.0	12	P07196	1
Opisthotonus	0.3049055081262915	0.3226675992059591	0.7469469927518106	1.0	1.0	23	P07602,Q99720,P35637	3
Abnormality of the adrenal glands	0.2859888157528031	0.3200663323175294	0.7489180471406369	1.0	1.0	56	P40855,Q969G3,P33991,P02545,O75381,P56589,O75844,P21912,Q9NSE4,Q13423,Q9H4A3,P48735,P16435	13
Abnormal conus terminalis morphology	0.4048186093873584	0.3174001913671452	0.7509399620253978	1.0	1.0	6	Q9H3P2	1
Clonus	0.3048397911027704	0.3166982291929978	0.7514725925837902	1.0	1.0	31	P07602,P35637,O75027,Q9BQT8,Q99720	5
Abnormality of the 1st metacarpal	0.3801332742329755	0.3154114622618376	0.7524492650476611	1.0	1.0	8	O60885,Q15233,Q9UQE7	3
Abnormality of the lymphatic system	0.3217860769714891	0.3154001976739967	0.7524578167657958	1.0	1.0	141	P14174,P02545,P21964,O14936,P00813,Q96HY6,P46100,O15460,P07602,P33991,Q14108,Q13510,Q6NUQ1,Q16625,Q15392,P28070,P35670,P54802,P16278,P10253,Q01844,O15118,P10619,P48735,P04062	25
Dystrophic fingernails	0.3526071643446251	0.3141393687816356	0.7534151898988888	1.0	1.0	11	O75844,P02545	2
Progressive visual field defects	0.6155852624714658	0.3133036718275251	0.7540499607550015	1.0	1.0	2	P35222	1
Thick nasal alae	0.3437591142628901	0.308154792308298	0.7579645501479826	1.0	1.0	12	P51812	1
Retinal dystrophy	0.2915201690008955	0.3061474137635294	0.7594924089195974	1.0	1.0	52	P40855,P53701,Q13868,O75381,P03915,Q6P4Q7,Q15067,P36404,P00846,P56589,O43505,Q8NAT1,Q9NQT5	13
Mild hearing impairment	0.3432762849332206	0.3058241197843674	0.7597385628466957	1.0	1.0	12	P51812	1
Abnormal lymphocyte morphology	0.3040198290735862	0.3048671718512883	0.7604673193158082	1.0	1.0	37	P00813,P16278,P33991	3
Ventricular tachycardia	0.3259060427194999	0.3046635496520555	0.7606224137207296	1.0	1.0	14	P23786,O43772	2
Abnormality of corneal size	0.3038921023501013	0.3032306989525112	0.7617140552992074	1.0	1.0	36	Q96EK5,O43505,P36404,P41227,Q9Y5P6,Q8NAT1,Q9H3P2,Q9NWM8,P07437	9
Epiphyseal stippling	0.3422003530093546	0.3006466093078995	0.7636839856684587	1.0	1.0	12	P40855,O75381,P56589	3
Abnormal size of the clitoris	0.3216704699400156	0.2987734637328591	0.7651128995105259	1.0	1.0	16	P53701,O75381,P40855,P56589	4
Reduced forced expiratory volume in one second	0.6097163351809527	0.2984942371755719	0.7653259738340688	1.0	1.0	2	Q96J02	1
Sleep wake cycle disturbance	0.4548123980423983	0.2978689065268012	0.7658032202990372	1.0	1.0	4	Q9UBM7,Q8N3U4,Q9Y4R8	3
Dysgammaglobulinemia	0.6090642321486733	0.2968722588126085	0.7665640361454134	1.0	1.0	2	P98170	1
Abnormality of thyroid physiology	0.2649258086370287	0.2968499037976019	0.7665811039868897	1.0	1.0	72	P61978,P21964,P00813,Q13423,P00403	5
Dysphagia	0.3089520350714302	0.2946757476456449	0.7682415915238883	1.0	1.0	126	Q9NR77,O43819,P04062,P20700,P00846,P21912,P15586,Q96CV9,Q8NFF5,Q8IZA0,Q9UHX1,P07602,P67870,P35637,Q14108,P43243,P17480,P09471,Q15067,Q13510,Q9UBB4,O75874,O75569,Q92734,P06753,P29372,Q01105,Q8N183,Q03164,Q15233,P35670,Q14739,O15344,P03915,O75306,Q12959,O15118,Q9UEY8,P48735,Q99720	40
High anterior hairline	0.3222911485032366	0.29302890645837	0.7695000568332477	1.0	1.0	15	O15344,Q9H3P2,P98172,Q7LGA3,O96028	5
Osteolytic defects of the distal phalanges of the hand	0.4530387979286704	0.2927192667924921	0.7697367418660306	1.0	1.0	4	O75844,P02545	2
Cutaneous syndactyly	0.3743874550800348	0.2922081874786824	0.7701274519894297	1.0	1.0	8	O60716,Q9Y619,P51608,P21281,P98175,Q9Y2U8,P27635	7
Posterior pharyngeal cleft	0.4523285297194418	0.2906676555024032	0.7713055111695319	1.0	1.0	4	O15344	1
Motor polyneuropathy	0.3474461113276643	0.2902436400665057	0.7716298524378751	1.0	1.0	11	O43819,P36551,P07196,P50336	4
Difficulty running	0.323062008361605	0.2898791951179952	0.7719086584760686	1.0	1.0	14	Q8TD16,P06753,P07196,Q9Y5P6,Q9BPX6	5
Delayed ability to stand	0.5915402395467636	0.289815852408615	0.7719571196368777	1.0	1.0	3	P10253	1
Accessory spleen	0.3967562623318625	0.2888127015509759	0.7727247116941329	1.0	1.0	6	Q15904	1
Hyperostosis	0.3214647687575257	0.2886645119192763	0.7728381224690721	1.0	1.0	15	Q15043,P51812	2
Abnormality of toe	0.3310570371080333	0.2874041175707256	0.7738029087723537	1.0	1.0	158	Q9NR77,Q7Z4L5,P04062,Q9UGU0,P02545,P21964,O14936,P39210,Q96A33,P00813,P41227,O43924,P98172,Q08J23,Q7LGA3,Q10713,Q9UHX1,Q96BR5,Q92796,P09471,Q13510,O75844,O96028,O75431,P51812,Q9H4A3,Q03164,Q9H3P2,Q15233,P37268,Q969G3,O60826,P61978,P07196,P23786,Q8WVM7,Q99720	37
Fasting hyperinsulinemia	0.4511471141295085	0.2872687129567374	0.7739065769268545	1.0	1.0	4	P02545	1
Leiomyosarcoma	0.3960169768201108	0.2862359115420815	0.7746974404150155	1.0	1.0	6	P04637,P63167,P35222,P25054,O60566	5
Delayed epiphyseal ossification	0.5894230396381777	0.284735768034729	0.7758465854912875	1.0	1.0	3	Q96HY6	1
Curly hair	0.3461608973547211	0.284369257983834	0.7761274154959992	1.0	1.0	11	Q14004,P55795	2
Colorectal polyposis	0.3952388542388586	0.2835320377903662	0.7767690262039169	1.0	1.0	6	P21912	1
Developmental regression	0.3078914666288099	0.2828492260561427	0.77729241748865	1.0	1.0	126	Q15043,O14936,P00846,P21912,P07602,P40855,O75381,Q15067,Q13510,Q8NI60,O95831,P55795,O75503,Q13813,P56589,O14773,P16278,Q96F07,P03915,Q9H9P8,O43681	21
Oligodontia	0.3659086756001302	0.2827204468142558	0.7773911411502339	1.0	1.0	9	P51812	1
Abnormal peristalsis	0.3771842953802825	0.2814862821683849	0.7783374481636618	1.0	1.0	7	Q9NSE4	1
Weakness of facial musculature	0.2735800369796509	0.2812391308744299	0.7785269932339063	1.0	1.0	60	P50570,P40855,Q969G3,Q15043,O75381,Q92796,P07196,Q13510,P56589,P51812,Q9BQT8,P16219,Q9UHX1	13
Telangiectasia of the skin	0.3153979673069298	0.2752876209770704	0.783095274228732	1.0	1.0	17	Q8IZA0,P06280,P02545,P46100	4
Abnormal number of incisors	0.3922556154418937	0.2732452651736932	0.7846646868030922	1.0	1.0	6	Q12959	1
Delayed ability to walk	0.265516803899668	0.2727821890156953	0.7850206516282277	1.0	1.0	63	Q9UGU0,P20700,Q99720,P35637,P61978,O14936,Q01105,P49366,P21912,Q96N66,Q03252,Q14004,Q3ZCQ8,P48449,Q15233	15
Abnormality of the posterior pituitary	0.3746864779012273	0.2721012350178547	0.7855441799550071	1.0	1.0	7	Q9UHX1	1
Gastroparesis	0.3742876931472713	0.2706117416151929	0.7866896641825716	1.0	1.0	7	P61978	1
X linked dominant inheritance	0.2926868511467895	0.2697179400805384	0.7873772577025717	1.0	1.0	24	P51812,P53701,P46100	3
Exercise induced myalgia	0.3532271792077496	0.2696451600521212	0.7874332540330025	1.0	1.0	10	P50570,Q13586,P23786,P02545	4
Joint hypermobility	0.2796257025891545	0.2687644943729276	0.7881109176827437	1.0	1.0	92	P35670,P02545,Q9Y487,P21964,Q01105,P51812,Q03164,Q7LGA3,Q03252,Q14004,Q08J23,Q9NWM8,Q9UHX1	13
Nasolacrimal duct obstruction	0.4441399198939758	0.2674630502460718	0.7891126597975935	1.0	1.0	4	Q13428	1
Typical absence seizure	0.3184508611885039	0.2663069316598243	0.7900028351100907	1.0	1.0	14	Q13510,Q01105	2
Gonosomal inheritance	0.2594575307664103	0.265443984925433	0.7906674559460729	1.0	1.0	69	P78318,O14936,P41227,P98175,P46100,P98172,Q15904,Q92796,O95831,P55795,O75027,P38159,P51812,Q15233,P53701,O60826,O15344,P06280,P50402	19
Acquired abnormal hair pattern	0.3727173738082776	0.2647704770676524	0.7911862813254782	1.0	1.0	7	P02545	1
Neoplasm of the breast	0.2938324716587809	0.2639339146074219	0.7918308418741393	1.0	1.0	26	P48735,P78549,P02545,P46100	4
Tremor	0.3340162282612849	0.2614410144143754	0.7937524315951354	1.0	1.0	166	Q9NR77,P04062,Q15043,O14936,P00846,P21912,O43924,P32929,Q9BPX6,P07602,P35637,Q14108,Q13510,Q8NI60,O95831,P41440,O75503,O75027,Q9H6K4,O14773,Q15233,P35670,Q96F07,P03915,P07196,Q5JRX3,P61457,Q6DKK2,Q99720,O43681	30
Hyperkalemia	0.4032892846844069	0.2605655035132789	0.7944275950857935	1.0	1.0	5	Q13423	1
Renal tubular dysfunction	0.2975611871501074	0.259360769179773	0.7953568959331045	1.0	1.0	39	P35670,O43676,Q96CU9,O96000,P00403	5
Stage 5 chronic kidney disease	0.2910553582753678	0.2591345516649571	0.7955314266862659	1.0	1.0	24	Q8N1F7,Q7Z4L5,Q14C86,P23786,Q8NFH4	5
Abnormal circulating follicle stimulating hormone concentration	0.3710606953397294	0.2586498816423919	0.7959053924834452	1.0	1.0	7	Q969G3	1
Abnormal bleeding	0.2893573941160942	0.258518682073469	0.7960066326238098	1.0	1.0	105	P35670,P50570,Q969G3,Q13126,P04062,P02545,Q14108,Q9Y487,P21964,P23786,O75844,P46100,Q16625,O15460,Q9NWM8,Q9UHX1,P11117	17
Hyperextensible skin	0.3154275681923152	0.2572799340972937	0.7969626814766033	1.0	1.0	15	Q9NWM8,Q9UHX1	2
Cerebral visual impairment	0.2664568517537917	0.2565841880825781	0.797499782530366	1.0	1.0	62	P37268,P03915,Q01105,Q96CU9,P00403,Q08J23	6
Polycystic kidney dysplasia	0.3163599418555022	0.2557864162238222	0.7981157633544711	1.0	1.0	14	P21964	1
Abnormality of exocrine pancreas physiology	0.3116626856939402	0.2551106986271735	0.7986376011897061	1.0	1.0	17	P14174,P09601	2
Progressive microcephaly	0.2969845387178784	0.2550528307237114	0.7986822951412573	1.0	1.0	39	Q5KU26,Q15043,Q9Y487,O14936,P50897,Q13813	6
Abnormality of globe size	0.2750747719261121	0.2533943640666319	0.7999634824031281	1.0	1.0	58	P53701,O75569,Q9BUK6,P21964,O14936,O00459,O75431,O43505,P41227,Q8NAT1,O43924,Q9UHX1,P07437	13
Aplasia hypoplasia of the nipples	0.3131189489366413	0.253206754117773	0.8001084475180642	1.0	1.0	16	O60885,O60826,P07437,Q96A33,Q9H3P2,P98172,O96028	7
Ectopic anus	0.3241979974104926	0.2526490755764543	0.8005394031211523	1.0	1.0	13	P53701,P16435,O60826	3
Akinesia	0.3487782603185893	0.2507647471267129	0.801995998560123	1.0	1.0	10	P51114,Q99567,P04062	3
Easy fatigability	0.3004836920814829	0.2499495349675702	0.8026263753184288	1.0	1.0	21	P50570,P06753,P61978,P21912,Q9Y5P6,Q9NWM8	6
Abnormal thalamic mri signal intensity	0.3852453616582301	0.2495823817153242	0.8029103248359233	1.0	1.0	6	Q96EY7,Q969G3	2
Abnormal cranial nerve morphology	0.2580532336500992	0.249121224561631	0.8032670120905832	1.0	1.0	65	P50570,P40855,Q969G3,Q15043,O75381,Q92796,P07196,Q13510,P56589,P51812,P21912,P16219,P22626,Q9UHX1	14
Abnormality of fontanelles	0.2921523310196489	0.2487400092670222	0.8035618983465225	1.0	1.0	46	Q32P28,P02545,Q9Y487,O75381,O75844,P51812,P98175,P46100,Q08J23	9
Hypoplastic toenails	0.2969089728691636	0.248364751632134	0.8038522034106617	1.0	1.0	22	Q08J23,P23786	2
Weak cry	0.3848197974931686	0.2481694892228755	0.8040032721116477	1.0	1.0	6	Q13510	1
Impaired visuospatial constructive cognition	0.3573849096681725	0.2479843372860658	0.8041465254037194	1.0	1.0	9	P00403	1
Hypoplasia of the uterus	0.3479945619235799	0.2474769784902069	0.8045391059914868	1.0	1.0	10	P53701	1
Large beaked nose	0.3836108390466896	0.2441707063440158	0.8070986134821818	1.0	1.0	6	Q9Y3Z3,O14802,P18074,P55265,Q12797	5
Lower limb hypertonia	0.3371219928044686	0.2439595998125152	0.8072621093375894	1.0	1.0	11	P21912,P46100	2
Emg myopathic abnormalities	0.2924227557747735	0.2433920755229603	0.8077016820852951	1.0	1.0	28	P50570,P51114,P02545,P06753,P07196,P50402,P22626	7
Distal sensory impairment of all modalities	0.3975195822454411	0.2430389446382229	0.8079752282819617	1.0	1.0	5	O95140,O15269,O15270,P48643	4
Lumbar hyperlordosis	0.3091824037406182	0.2419189056933432	0.8088430005528258	1.0	1.0	17	P06753,P04066,P41227,Q9Y5P6,Q96HY6	5
Hoarse voice	0.2891806789435209	0.2401057018384921	0.8102483140662449	1.0	1.0	25	P06753,P43243,Q13510,Q96HY6,Q01082	5
Delayed eruption of permanent teeth	0.4336052202283837	0.2388632455975342	0.8112116264246825	1.0	1.0	4	Q9UJX6,Q12824,Q5JRA6	3
Iris coloboma	0.294471707790695	0.2386340656033853	0.8113893475980678	1.0	1.0	33	P78318,Q96EK5,P53701,Q10713,O60826,O43505,P41227,Q8NAT1,Q9H3P2,Q01082,Q9UHX1,O96028	12
Abnormal cellular phenotype	0.3441010863675935	0.2344669179264761	0.8146225130976683	1.0	1.0	186	P14174,O43772,P21964,P00846,P00813,O96000,Q9Y584,P07602,P33991,P35637,Q14108,P09601,Q13510,Q96CU9,Q70HW3,Q9Y2R0,P28070,O75503,O43676,P00403,O14773,P03915,P23786,Q9UBX3	24
Insulin resistance	0.3090653129550822	0.2322659151613832	0.8163314843337512	1.0	1.0	16	O75844,O75431,P02545,Q03252	4
Thin skin	0.2867322686408718	0.231531529635353	0.8169018936763035	1.0	1.0	24	O75844,Q13126,P02545	3
Sparse eyebrow	0.2933495844745496	0.2309025361229228	0.8173905204314662	1.0	1.0	33	Q96EK5,P02545,P61978,Q07954,O75431,O75844,Q00577,Q08J23	8
Erythrocyte inclusion bodies	0.3932886490693866	0.2304936255937454	0.8177082161979108	1.0	1.0	5	O14936	1
Astrocytoma	0.3583123413715529	0.2300604908583602	0.8180447651877558	1.0	1.0	8	P48735,P20585	2
Limited elbow extension	0.3581689661160638	0.2295257119549663	0.8184603387310492	1.0	1.0	8	Q9H6K4,P16435	2
Short clavicles	0.3519730913793092	0.226586304761751	0.8207454425553822	1.0	1.0	9	O75844,O75431,P02545	3
Aplasia hypoplasia of the skin	0.2838457899115064	0.2260300334456418	0.8211780614092552	1.0	1.0	51	P53701,Q13126,P02545,Q07954,O75844,Q15392,Q9NWM8	7
Decreased circulating acth level	0.3773171733672711	0.2237185523983756	0.8229763090850302	1.0	1.0	6	Q969G3	1
Episodic ataxia	0.3909151586712095	0.2235721470721788	0.8230902384906087	1.0	1.0	5	O14936	1
Abnormal lower limb bone morphology	0.3238624676263297	0.2227067719348174	0.8237637304830041	1.0	1.0	156	Q9UGU0,Q7Z4L5,P02545,P21964,O14936,Q99567,Q96A33,P00813,P98175,O43924,Q96HY6,P46100,Q08J23,Q7LGA3,Q9UHX1,P07602,Q9Y487,Q13510,O75844,Q6NUQ1,Q03252,Q15392,O95831,Q32P28,O75431,Q9UPT5,P51812,Q8NAT1,Q9H4A3,Q03164,Q9H3P2,P16435,P16278,P06280,P04062	35
Abnormal levels of alpha fetoprotein	0.4270799347471374	0.2218832705565367	0.8244047541034187	1.0	1.0	4	P35222,Q15149,Q9UJS0	3
Protein losing enteropathy	0.5607969785933484	0.2204821726495217	0.8254956549503403	1.0	1.0	3	P34949	1
Buphthalmos	0.5751548744701583	0.2192790981906636	0.8264326429279394	1.0	1.0	2	Q14118	1
Abnormality of female external genitalia	0.2915791079343392	0.2188011336275224	0.8268049637643966	1.0	1.0	33	P40855,P53701,P02545,O75381,P56589,Q15392,Q08J23	7
Sudden loss of visual acuity	0.5748288229540186	0.218599183634213	0.8269622887872892	1.0	1.0	2	P35222	1
Atrophy degeneration affecting the brainstem	0.3308724292385003	0.2169978189243866	0.8282100446916127	1.0	1.0	11	Q13813,Q13217,O15121	3
Neuroendocrine neoplasm	0.3236187341311541	0.215007316260011	0.8297616144058968	1.0	1.0	12	P02545,P46100	2
Abnormality of hair texture	0.2811282799908329	0.2144908701781042	0.8301642858450957	1.0	1.0	52	P55795,P54802,Q9Y487,P51812,O75844,Q08J23	6
Vertebral fusion	0.3482867675491389	0.212317515292118	0.8318593316921135	1.0	1.0	9	Q8TAA9,Q9UHX1,O96028	3
Simple ear	0.373382192815739	0.2112498101891178	0.832692344737431	1.0	1.0	6	P16435	1
Muscular dystrophy	0.2874799967573478	0.2111807422603495	0.83274623733844	1.0	1.0	28	Q9BTV4,P02545,Q15149,P09651,O43505,O14979,P50402,Q9Y5P6,Q8NAT1,P22626,Q9H173	11
Protrusio acetabuli	0.5561579723739589	0.2108741918984767	0.832985443170275	1.0	1.0	3	O75718	1
Lung adenocarcinoma	0.5560991519895466	0.210753848822524	0.8330793529002236	1.0	1.0	3	P30154,Q99496	2
Adult onset	0.2618272412679499	0.2094267392255996	0.8341151206648854	1.0	1.0	62	P07602,Q969G3,P20700,P04062,P41440,P02545,Q8IV08,Q9Y6M1,P43243,Q16637,Q13586,Q14566,O14979,P21912,P36551,O15118,Q07021	17
Extramedullary hematopoiesis	0.4216088698465347	0.2080934754504175	0.8351559814905674	1.0	1.0	4	P98175	1
Purpura	0.2931962597934143	0.2078629165172901	0.8353360050422773	1.0	1.0	21	P21964	1
Broad finger	0.2888457723126794	0.2066127116848959	0.8363123319844146	1.0	1.0	31	Q9UGU0,O14936,P51812,Q08J23,Q7LGA3,Q9UHX1	6
Aplasia hypoplasia of the eyebrow	0.2888714642444421	0.2061839269249199	0.8366472425657938	1.0	1.0	43	Q96EK5,P02545,P61978,Q07954,O75431,P00813,O75844,Q00577,Q8WVM7,P48449,Q08J23	11
Abnormality of the metacarpal bones	0.2904190358014413	0.2061175262705171	0.836699108722871	1.0	1.0	36	P51812,O43924	2
Epileptic spasm	0.2637331960520455	0.2055483106855936	0.8371437573131804	1.0	1.0	61	P03915,Q13813,Q13510,Q01105,P00846,Q96N66,Q00577,Q08J23,Q9UBX3	9
Abnormal urine ph	0.2887526883303766	0.2052874217023459	0.8373475708131903	1.0	1.0	43	O43772,P03915,P23786,P00846,O96000,Q9H9P8,Q9BQT8,P48735	8
Hyperactive patellar reflex	0.3515321536949259	0.2051719105188318	0.8374378147480455	1.0	1.0	8	Q15233,P21912,O95394	3
Ileus	0.5530391456369506	0.204544699071601	0.8379278654647975	1.0	1.0	3	Q01844	1
Abnormal head movements	0.3278414849829767	0.2042261824277703	0.8381767518902383	1.0	1.0	11	P41227,Q99720,P20700,P35637	4
Patellar aplasia	0.5527886511079427	0.2040408932893166	0.8383215428305246	1.0	1.0	3	Q9Y5S9	1
Bowing of the arm	0.4198097215373838	0.2036493336896963	0.8386275381983321	1.0	1.0	4	Q32P28	1
Decreased corneal reflex	0.419712292974334	0.2034099628279433	0.8388146133764856	1.0	1.0	4	Q9H4A3	1
Abnormality of the incisor	0.2853644660815452	0.2032619980360331	0.8389302566516681	1.0	1.0	27	Q9UGU0,Q12959,Q00577,Q8WVM7,P46100,Q7LGA3	6
Ureteropelvic junction obstruction	0.5670035865666692	0.2026696657842991	0.8393932343024002	1.0	1.0	2	Q9UBM7	1
Leukoencephalopathy	0.2743907225675819	0.2025724997449562	0.8394691863551502	1.0	1.0	93	P07602,O95831,O00584,O75503,P07942,Q01105,O43676,Q96CU9,O96000,Q9H9P8,O15121,Q9UHX1,O43681	13
Exostoses	0.4192070327612205	0.2021707293999058	0.8397832551802542	1.0	1.0	4	P48735	1
Delayed eruption of teeth	0.2862977943101269	0.2021666173282405	0.8397864697692741	1.0	1.0	46	P02545,Q9Y487,Q92796,O75844,P51812,Q08J23	6
Limited hip movement	0.3052850354412174	0.2019294475225093	0.8399718804583995	1.0	1.0	14	O75844,Q8TD16,Q7LGA3,P02545	4
Joint hyperflexibility	0.2895629992092396	0.1999226304511355	0.8415410911835353	1.0	1.0	38	P51812,P21964,Q08J23	3
X linked recessive inheritance	0.2779821884163463	0.1998175611979713	0.8416232664453824	1.0	1.0	53	P78318,O95831,O60826,Q15904,O75027,Q92796,O14936,O15344,P06280,P41227,P38159,P98175,P50402,P46100,Q15233	15
3 methylglutaconic aciduria	0.3267019982190645	0.1994776738466383	0.8418891060934635	1.0	1.0	11	Q3ZCQ8,Q9H6K4	2
Impaired smooth pursuit	0.303590546272251	0.1984825093974913	0.8426675680078755	1.0	1.0	15	P41440	1
Progressive muscle weakness	0.3111253488683211	0.1922168486168225	0.8475723486955542	1.0	1.0	13	P40855,P06753,O75381,P56589,Q15149	5
Macular thickening	0.3503466944231787	0.1859811909410466	0.8524595114454656	1.0	1.0	7	P50213,Q8WWY3,P04439	3
Abnormality of the antihelix	0.3325932505843949	0.1853274093892698	0.8529722408079974	1.0	1.0	10	P98175,Q08J23	2
Abnormal thalamic size	0.5422515876940728	0.1834675362127017	0.8544311887596217	1.0	1.0	3	Q9UPT5	1
Moderate global developmental delay	0.3320025528250634	0.1830414571202562	0.8547654900076991	1.0	1.0	10	O95831	1
Abnormality of limb epiphysis morphology	0.28295789470671	0.1825265686359773	0.8551695058055677	1.0	1.0	28	P51812,O95831,Q7LGA3	3
Aplasia hypoplasia of the 5th finger	0.3010931936276347	0.1824129035724986	0.8552587001049043	1.0	1.0	14	Q969G3,O14497,Q12824,Q92785,Q9UHX1	5
Osteomyelitis	0.2989273861057643	0.181909493935089	0.855653753729096	1.0	1.0	16	Q13126	1
Abnormality of the septum pellucidum	0.2868374621556457	0.1814202381373589	0.8560377347138075	1.0	1.0	39	P53701,Q9BVA1,O43505,Q96N66,Q8NAT1,Q15392,Q08J23	7
Adrenocorticotropic hormone deficiency	0.5559178350179237	0.1813893239006246	0.8560619981762003	1.0	1.0	2	O00170	1
Lambdoidal craniosynostosis	0.5410573792154858	0.1812126903424961	0.8562006340540222	1.0	1.0	3	P61978	1
Lactose intolerance	0.5410239307471804	0.181149761033265	0.856250026986644	1.0	1.0	3	Q14566	1
Abnormal conjunctiva morphology	0.2825911126259383	0.1802381342087751	0.8569656218583384	1.0	1.0	28	P28070,P06280,P04066,Q13510,P21912,P02786,Q9NSE4,P10619	8
Abnormal epidermal morphology	0.2970292705880292	0.1798250584526908	0.8572899104899545	1.0	1.0	17	Q07954,O75844,P02545,Q06136	4
Abnormality of cranial sutures	0.2644815783109659	0.1778655255253779	0.8588285857349638	1.0	1.0	84	P40855,O95831,Q32P28,P02545,P61978,Q9Y487,P21964,O75381,O75431,P51812,P41227,P98175,O75844,Q00577,Q9H4A3,Q08J23,P16435	17
Agammaglobulinemia	0.5391389432485146	0.1776233501921059	0.8590187853419646	1.0	1.0	3	Q8IWT6,O60220	2
Aplasia hypoplasia affecting the fundus	0.2798092201572051	0.1749780091172138	0.8610969131743742	1.0	1.0	26	P61978,P37268,P07196,Q9UHX1	4
Abnormal eating behavior	0.2920489687298434	0.1738783793021028	0.8619610446010704	1.0	1.0	19	Q969G3,O14497,P35610,P49366,Q92785,Q4J6C6	6
Abnormal blood sodium concentration	0.3294690368313875	0.1733228331818859	0.8623976770136454	1.0	1.0	10	P36551,Q13423	2
Lipodystrophy	0.2840873411439123	0.1720794451708594	0.8633750720855939	1.0	1.0	32	P28070,P02545,Q9Y487,O75431,O75844,Q03252	6
Tonic seizure	0.278169272861957	0.1717459157036845	0.8636372865870914	1.0	1.0	25	P07602,Q00577,Q01105	3
Rod cone dystrophy	0.2853980901291368	0.1708394680943094	0.8643499941991892	1.0	1.0	38	P40855,Q13868,O75381,P03915,Q15067,P00846,P56589	7
Medial flaring of the eyebrow	0.549070753178994	0.1690043694439402	0.8657932045210011	1.0	1.0	2	Q96ST3	1
Milia	0.5340765139170205	0.1683473633129865	0.866310014988191	1.0	1.0	3	P50336	1
Poor speech	0.264377209377801	0.1677680228514323	0.8667657799586235	1.0	1.0	85	O00584,P61978,Q15043,Q9Y487,Q92796,Q01105,P51812,Q96CU9,Q96N66,P55263,Q08J23	11
Skeletal muscle atrophy	0.3226587589292066	0.1663033138686478	0.8679182582728004	1.0	1.0	162	Q9NR77,Q8TD16,P02545,P39210,Q99567,P21912,P55263,Q96CV9,Q9NQT5,Q96BR5,P35637,Q9BVA1,O00459,Q13510,O14979,Q15165,Q03252,P50995,P50570,O95831,Q13126,P06753,P51812,Q8NAT1,Q9NWM8,P22626,Q92804,P16278,P07196,P50402,Q9BQT8,Q6DKK2,Q99720	33
Abnormality of the intrahepatic bile duct	0.5328825442146916	0.166201110378595	0.8679986856454711	1.0	1.0	3	P02545	1
Neoplasm of the parathyroid gland	0.3699351389530544	0.1661891146642021	0.8680081255672285	1.0	1.0	5	P48735	1
Parathyroid adenoma	0.3699351389530544	0.1661891146642021	0.8680081255672285	1.0	1.0	5	P48735	1
Abnormal corneal epithelium morphology	0.2905416223539298	0.166153324139479	0.8680362907171713	1.0	1.0	19	Q96EK5,O75844,P39210,P02545	4
Adenomatous colonic polyposis	0.368954015544674	0.163678494151521	0.8699842483822515	1.0	1.0	5	P78549	1
Bulbous nose	0.28368838504579	0.1621371456153865	0.8711978552137625	1.0	1.0	41	Q9UGU0,Q96EK5,P21964,P23786,O75431,P38159,P42892	7
Abnormal size of pituitary gland	0.3680108490363192	0.1612799863643552	0.8718728854690798	1.0	1.0	5	Q969G3	1
Breast carcinoma	0.2893770684450853	0.1602381446080603	0.8726934825396597	1.0	1.0	19	P48735,P78549,P46100	3
Broad clavicles	0.5438539289207597	0.1599581985628443	0.8729140028543692	1.0	1.0	2	A1X283	1
Vocal cord paresis	0.4008224731597943	0.1595596127767874	0.8732279956162823	1.0	1.0	4	P43243	1
Syndactyly	0.2583956452766329	0.1590499573337099	0.8736295144839081	1.0	1.0	79	P37268,Q7Z4L5,P02545,Q92796,P51812,P98175,O43924,Q08J23,Q9UHX1	9
Pace of progression	0.3171580105402865	0.1579152331217976	0.8745235943830736	1.0	1.0	155	Q9NR77,P04062,P02545,Q15043,Q9NR28,P39210,O43707,P55263,P27544,O00584,Q8IV08,Q14108,Q13510,O14979,Q03252,P50570,O95831,Q13126,P41440,O15121,O14773,Q8N1F7,P54802,P07942,P07196,P50402,Q99720	27
Cardiac arrest	0.2805733558895622	0.157753319977823	0.8746511832171715	1.0	1.0	30	P02545,O43772,P50402,O15460,Q14BN4	5
Limb fasciculations	0.3997934381507936	0.1573197671503989	0.8749928423012798	1.0	1.0	4	Q92734,Q16637	2
Osteomalacia	0.3991093596430143	0.155839420931236	0.8761595968050448	1.0	1.0	4	P35670,P53680	2
Abnormality of epiphysis morphology	0.2727902281586224	0.155768363706604	0.8762156082897576	1.0	1.0	53	Q7Z4L5,P40855,O95831,P16278,O75381,P56589,P51812,Q6NUQ1,Q96HY6,Q9H4A3,Q7LGA3	11
Oral pharyngeal dysphagia	0.3024512476132063	0.1545617815740272	0.8771668017271828	1.0	1.0	13	Q13510,Q12959,Q01105	3
Joint stiffness	0.2711600711648954	0.1541815489496968	0.8774665900307139	1.0	1.0	54	P16435,O60885,P54802,P16278,P02545,Q8NBU5,P51648,O75431,P48735,O75844,P50402,P15586,P46100,Q8TAA9,O15460,O75874	16
Relative macrocephaly	0.2815548797998885	0.1526731116149044	0.878656065965624	1.0	1.0	33	P02545,O75844,Q15392,Q7LGA3,Q15233	5
Distal sensory loss of all modalities	0.3973898858075015	0.1521490542304271	0.8790693748666509	1.0	1.0	4	O15269,O15270,P48643	3
Microcornea	0.2746349595841242	0.1508200544637083	0.8801176660505596	1.0	1.0	25	O43505,P36404,Q8NAT1,Q9NWM8,P07437	5
Abnormal systemic arterial morphology	0.2986529895819765	0.1507314012808041	0.8801876015879273	1.0	1.0	130	Q9UGU0,P02545,P21964,P00846,P21912,P55263,O15460,Q7LGA3,Q9UHX1,P07602,O00459,Q13510,O75844,P46783,P06753,Q9NWM8,P53701,P16278,P61978,P06865,P03915,P10253,O15118,P10619,P04062	25
Abnormal form of the vertebral bodies	0.2591105510032993	0.1485051061346111	0.8819441565255446	1.0	1.0	81	O95831,P54802,P16278,P00813,P51812,Q6NUQ1,Q96HY6,P46100,P48735,Q9UHX1	10
Oligohydramnios	0.2782638025307456	0.148359147094858	0.8820593391181619	1.0	1.0	29	P51114,P23786,P49366,Q7LGA3,P16435,Q9UHX1	6
Ankyloblepharon	0.3628188184457455	0.1483414568640685	0.8820732994140943	1.0	1.0	5	O75569	1
Chronic constipation	0.2739810252572995	0.1470056689075085	0.8831275457956673	1.0	1.0	25	P78318,P55795,Q03252,Q7LGA3,P04062	5
Long penis	0.5357026410172726	0.146498207164462	0.883528105125968	1.0	1.0	2	O00170	1
Increased circulating androgen concentration	0.5357026410172719	0.1464982071644608	0.8835281051259689	1.0	1.0	2	P04637	1
Papilloma	0.3221593084165658	0.1460828542153056	0.8838559815624314	1.0	1.0	10	P21912,P20585	2
Neoplasm of the respiratory system	0.3071010602166465	0.1456185595359136	0.884222515772563	1.0	1.0	12	P02545	1
Abnormal urinary color	0.3607850755745438	0.1433966377225532	0.8859769382428597	1.0	1.0	5	P23786	1
Abnormality of facial soft tissue	0.2841502539197428	0.1432164499726324	0.8861192385446188	1.0	1.0	112	Q14C86,P02545,Q9BUK6,Q15043,P21912,O43707,P16219,Q9UHX1,O00592,P40855,O75381,Q92796,Q13510,O75844,Q9Y5P6,Q03252,P28070,P50570,P06753,P57740,Q8NFH4,P56589,P51812,Q01082,P16435,Q8N1F7,Q969G3,O60826,P10253,P07196,Q12769,Q00577,Q9BQT8,P04062	34
Hypoproteinemia	0.5321160743397352	0.1408357157635796	0.8879997271567768	1.0	1.0	2	Q9UJS0	1
Persistent head lag	0.3357873358237278	0.1395507137830829	0.8890149841449455	1.0	1.0	7	Q5XKP0,Q15233	2
Motor seizure	0.2741463223367154	0.1392529586964175	0.8892502611346236	1.0	1.0	100	P07602,P16278,O75503,P03915,O14936,Q9UPT5,P00846,Q13510,Q01105,Q96N66,Q13813,Q00577,Q08J23,Q9UBX3,P04062	15
Aplasia hypoplasia of the uterus	0.2896446977524908	0.1385287440660858	0.8898225541305138	1.0	1.0	16	P53701	1
Abnormality of the uterus	0.2751751951810817	0.1367222880439231	0.8912503116564181	1.0	1.0	49	P51812,P21964,P53701	3
Porokeratosis	0.5153294194389885	0.1364856543421777	0.8914373646015556	1.0	1.0	3	P14324,Q15126	2
Ankyloglossia	0.3313957742881945	0.1363979683823429	0.8915066796655726	1.0	1.0	8	O75844,P02545	2
Cerebral hemorrhage	0.3041290374087112	0.133881913471405	0.8934959524756476	1.0	1.0	12	Q969G3,P23786	2
Pilomatrixoma	0.5133724722765649	0.1333864856814196	0.8938877327661305	1.0	1.0	3	P25054,P35222	2
Elevated urinary delta aminolevulinic acid	0.5116949578062673	0.1307639819975039	0.8959620164844855	1.0	1.0	3	P36551	1
Elevated urinary dicarboxylic acid level	0.5116949578062673	0.1307639819975039	0.8959620164844855	1.0	1.0	3	P36551	1
Respiratory paralysis	0.5116949578062673	0.1307639819975039	0.8959620164844855	1.0	1.0	3	P36551	1
Porphyrinuria	0.5116949578062673	0.1307639819975039	0.8959620164844855	1.0	1.0	3	P36551	1
Abnormality of pancreas physiology	0.279112917765112	0.1301912009701204	0.8964151559393503	1.0	1.0	41	P14174,P02545,P03915,P09601,P00403,P53985	6
Autoimmunity	0.27850490571705	0.1263858851627479	0.8994264745656497	1.0	1.0	36	P00813,P14174,P21964,Q8IZA0	4
Aplasia hypoplasia of the nasal bone	0.5084801043704961	0.1258261050459612	0.8998695771592669	1.0	1.0	3	Q6NUK1,O14974	2
Adrenocortical carcinoma	0.5084801043704948	0.1258261050459595	0.8998695771592682	1.0	1.0	3	P25054,P04637	2
Moyamoya phenomenon	0.3833605220228417	0.1236878368755609	0.9015624424712256	1.0	1.0	4	Q63HN8,Q9Y3Z3,P55265	3
Chronic leukemia	0.3833605220228415	0.1236878368755604	0.901562442471226	1.0	1.0	4	P11274,Q9Y3Z3,P55265	3
Abnormal saccadic eye movements	0.269074345968462	0.1189762105982256	0.9052942030832848	1.0	1.0	25	Q8IV08	1
Nausea and vomiting	0.3034523897999497	0.1171595907129791	0.9067335882654988	1.0	1.0	141	P07602,Q92804,P35637,P61978,P03915,P39210,P00846,O43676,Q96CU9,O96000,Q15165,Q13423,P00403,P42892,Q9Y584,P46100,Q8IZA0,P11117	18
Facial erythema	0.5151613955004826	0.1161960879856003	0.9074971370882996	1.0	1.0	2	O00170	1
Spastic paraplegia	0.272491826664851	0.1161929307248363	0.9074996392695964	1.0	1.0	49	O95831,P07942,P56589,P00846,Q96CU9,P46100	6
Neoplasm of the tracheobronchial system	0.5132050864036487	0.1135765100534658	0.9095735090977302	1.0	1.0	2	P30154	1
Germinoma	0.513205086403648	0.1135765100534649	0.9095735090977308	1.0	1.0	2	P35222	1
Central primitive neuroectodermal tumor	0.5132050864036402	0.1135765100534546	0.909573509097739	1.0	1.0	2	P04637	1
Abnormality of the musculature of the hand	0.2762487759950225	0.1106046604189053	0.9119298516852627	1.0	1.0	37	Q9NR77,P46783,P07196	3
Alopecia totalis	0.3258063987197578	0.1101332850441654	0.912303671063067	1.0	1.0	7	P02545	1
Poikilocytosis	0.2910418073526436	0.1082813423815923	0.9137725222113902	1.0	1.0	13	P41440	1
Abnormality of hair pigmentation	0.2744301124770331	0.1080617782801089	0.9139466870721218	1.0	1.0	21	P37268,Q13126	2
Hand tremor	0.3029733979750302	0.1076745037947469	0.9142538949298152	1.0	1.0	11	Q92734,P07196,Q16637	3
Pituitary prolactin cell adenoma	0.5083143136615522	0.1072265706960418	0.9146092365787823	1.0	1.0	2	O00170	1
Elevated circulating growth hormone concentration	0.5083143136615522	0.1072265706960418	0.9146092365787823	1.0	1.0	2	O00170	1
Congenital craniofacial dysostosis	0.5083143136615482	0.1072265706960368	0.9146092365787865	1.0	1.0	2	Q6NUK1	1
Mild postnatal growth retardation	0.5083143136615482	0.1072265706960368	0.9146092365787865	1.0	1.0	2	Q9Y3E5	1
Abnormal thyroid stimulating hormone level	0.5083143136615464	0.1072265706960348	0.914609236578788	1.0	1.0	2	O14654	1
Skin plaque	0.3433038964548833	0.1038137784353558	0.9173171319431196	1.0	1.0	5	Q06136	1
Syringomyelia	0.4915198956294666	0.1016805565628755	0.9190102357601136	1.0	1.0	3	P35222,O60341	2
Abnormal circulating protein concentration	0.3039910779999324	0.1007383558873359	0.9197581626384616	1.0	1.0	144	P14174,Q14C86,P02545,O43772,Q9BUK6,P39210,Q13586,O43707,P34949,Q9Y584,Q8NFF5,Q08J23,Q96BR5,Q9BPX6,Q8N511,Q9Y487,P43243,O14979,P36551,Q9Y5P6,P53985,Q5XKP0,Q07021,Q92734,P50570,O95831,P41440,P06753,P57740,Q8NFH4,Q14126,Q16836,Q8NAT1,Q9BT22,Q9NWM8,Q15149,P22626,Q8N1F7,P10253,P07196,P23786,O43505,Q12769,P50402,Q5JRX3	45
Absent eyebrow	0.3336124162475308	0.1002444302161665	0.9201502734255176	1.0	1.0	6	P02545	1
Scaling skin	0.3194804368301837	0.0996201898569282	0.9206458643727332	1.0	1.0	8	P02545	1
Bilateral microphthalmos	0.3326318157802275	0.0978742370837413	0.9220321575749012	1.0	1.0	6	Q9UHX1	1
Widely spaced teeth	0.2687031238958685	0.0978346086917294	0.9220636254357546	1.0	1.0	28	P51812,P16278,Q15233	3
Abnormality of blood circulation	0.2418252082769004	0.0973085612885252	0.9224813573434764	1.0	1.0	67	P50570,P04062,Q969G3,P02545,Q9Y487,P21964,P23786,O75844,P46100,Q9UHX1	10
Absent toe	0.272157974384248	0.096900607759419	0.9228053261577722	1.0	1.0	21	Q9UGU0,P02545,Q9H3P2,Q7LGA3,Q9UHX1	5
Decreased circulating antibody level	0.2730608227200511	0.0954080493332339	0.9239907228026348	1.0	1.0	44	P00813	1
Abnormality of tibia morphology	0.293907306256834	0.0953829471231155	0.924010660542106	1.0	1.0	12	O95831,Q32P28	2
Paraplegia paraparesis	0.249568320068485	0.0953677552743698	0.9240227268782188	1.0	1.0	76	O95831,P35637,Q9H6K4,P07942,Q13510,P00846,Q96CU9,P56589,P46100,Q6DKK2,P04062	11
Abnormal arachnoid mater morphology	0.3204552638958781	0.0952062996245572	0.924150966342172	1.0	1.0	7	Q9UHX1	1
Abnormal labia majora morphology	0.3130926926540345	0.090045205009139	0.9282512923054071	1.0	1.0	9	O60885,Q9Y619,P16435,Q9UQE7	4
Hypoplastic labia majora	0.3130926926540345	0.090045205009139	0.9282512923054071	1.0	1.0	9	O60885,Q9Y619,P16435,Q9UQE7	4
Connective tissue nevi	0.4913596348223	0.087366832621097	0.9303799322754156	1.0	1.0	2	Q6NUK1	1
Cutaneous finger syndactyly	0.4913596348222984	0.0873668326210953	0.9303799322754168	1.0	1.0	2	Q9Y619	1
Food allergy	0.3621117121771512	0.0862333610880494	0.9312809111595008	1.0	1.0	4	Q01082,O95394	2
Scleroderma	0.3345360249162682	0.0859636295911771	0.9314953295446324	1.0	1.0	5	P02545	1
Abnormal echocardiogram	0.4784735812132945	0.0852564383884312	0.9320575225176976	1.0	1.0	3	P49748,P12235	2
Hypersomnia	0.4858167590479191	0.0815776623070945	0.9349825649738776	1.0	1.0	2	O00170	1
Abnormality of amino acid metabolism	0.4841865014672269	0.0799389066939024	0.9362858457604512	1.0	1.0	2	P18074	1
Abnormality of the thyroid gland	0.2665414631893765	0.0789420302096521	0.9370787322628652	1.0	1.0	98	Q969G3,P02545,P61978,P03915,P21964,P00813,P21912,Q13423,P00403,P20585,P42892,P48735	12
Palpebral edema	0.3306135770235083	0.0784156914956304	0.9374973919564678	1.0	1.0	5	O00170,Q12756,Q01082,Q14331	4
Abnormal lacrimal duct morphology	0.3306135770235051	0.0784156914956242	0.9374973919564726	1.0	1.0	5	P48651,Q13428,Q9NX24,Q9UQE7	4
Reduced tendon reflexes	0.3161673698515522	0.0780698163883499	0.9377725169252578	1.0	1.0	165	Q9NR77,O43819,P51114,P04062,O95721,Q8TD16,P02545,Q9BUK6,Q16637,P39210,P00846,Q13586,Q96BR5,Q10713,O00592,P07602,P40855,P35637,O75381,Q15067,Q13510,O14979,Q9Y5P6,Q9UBB4,P50336,P50570,O95831,P41440,P06753,Q9H6K4,P56589,Q9NSE4,Q8NAT1,Q9H4A3,Q8TAA9,P54802,Q96F07,Q13217,P61978,P03915,P10253,P07196,O43505,P50402,Q9BQT8,Q99720,O43681	47
Prematurely aged appearance	0.2710934190931455	0.0763098014670169	0.9391726281403232	1.0	1.0	40	Q13126,P02545,Q9Y487,O75844,Q03252	5
Abnormal enchondral ossification	0.2596236343847167	0.0752496320429078	0.9400160956024912	1.0	1.0	24	P40855,O75381,P56589,Q9UG56,Q96HY6,O96028	6
Delayed social development	0.3526916802610041	0.0718039404258646	0.9427579369111556	1.0	1.0	4	Q9UJX6,Q13509,Q9Y2V7	3
Clubbing of toes	0.475383110531459	0.0715799921023728	0.9429361632132368	1.0	1.0	2	Q9BXW9	1
Pyridoxine responsive sideroblastic anemia	0.475383110531459	0.0715799921023728	0.9429361632132368	1.0	1.0	2	Q9BXW9	1
Duodenal stenosis	0.475383110531459	0.0715799921023728	0.9429361632132368	1.0	1.0	2	Q9BXW9	1
Generalized joint laxity	0.2871118479394998	0.0714528023326715	0.9430373867766646	1.0	1.0	12	Q9Y487	1
Curly eyelashes	0.3268519983400141	0.0714316888334699	0.943054189975222	1.0	1.0	5	O60885,Q9UQE7	2
Acne inversa	0.4747310074991806	0.0709931494201595	0.9434032077058344	1.0	1.0	2	Q92542	1
Microdontia	0.2617336700065081	0.0709593177543583	0.9434301335629603	1.0	1.0	23	Q9Y487	1
Abnormality of fibula morphology	0.291306674378473	0.0679062727901512	0.9458602453175556	1.0	1.0	11	O75431,Q96HY6	2
Neoplasm of head and neck	0.3077425677883057	0.066442923272928	0.9470251978519596	1.0	1.0	8	P21912,P04637,Q8N9N2,P07954,P25054,P42224,P31040	7
Thoracic kyphosis	0.2724805405769469	0.0659176909531913	0.9474433558713398	1.0	1.0	16	O95831,Q9UHX1	2
Chronic otitis media	0.2590957358316972	0.06536160557875	0.9478860929918264	1.0	1.0	25	P21964	1
Fulminant hepatic failure	0.3474714518760158	0.0643748625547579	0.94867174527592	1.0	1.0	4	Q16836,P98170,Q96RP9	3
Abnormal heart valve physiology	0.2507500472826649	0.0643119286739009	0.948721855410566	1.0	1.0	81	P53701,Q15233,P04062,P16278,P02545,O60826,O75431,O00459,P00813,P51812,O75844,P55263,P46100,Q9UHX1	14
Abnormality of macular pigmentation	0.4585779517286272	0.063684706338735	0.949221282598732	1.0	1.0	3	P35221,Q9UM00	2
Aplasia hypoplasia involving bones of the lower limbs	0.2480653970866901	0.0634092596331022	0.9494406139703409	1.0	1.0	78	Q9UGU0,Q7Z4L5,O95831,P02545,O75431,Q13510,P00813,Q96HY6,Q03164,Q08J23,Q7LGA3,Q9UHX1	12
Encephalocele	0.2898866428578909	0.0633237769296374	0.9495086825040332	1.0	1.0	11	Q9Y5P6,P07942,O43505,Q10713	4
Delayed eruption of primary teeth	0.4656015650472701	0.0632307383468654	0.9495827680844398	1.0	1.0	2	Q13045	1
Esophageal neoplasm	0.3076420640104496	0.0619379400128387	0.950612253723918	1.0	1.0	7	P21912,Q8N9N2,P25054,P31040,P42224,P07954	6
Aplasia of the uterus	0.3166829905321631	0.0619337103417249	0.9506156220464764	1.0	1.0	6	Q9Y5S9,O95202,P30153,Q8IY37,O96028	5
Papilledema	0.2645377618936947	0.0610456362981189	0.9513228642925332	1.0	1.0	21	Q969G3,Q7LGA3,P04062	3
Abnormality iris morphology	0.2433617518178296	0.060118952933066	0.952060895006954	1.0	1.0	73	Q9NR77,P78318,P40855,Q96EK5,P53701,Q10713,O60826,O75381,O43505,P56589,P41227,P21912,Q9Y5P6,Q8NAT1,Q9H3P2,Q7LGA3,Q9UHX1,O96028	18
Broad philtrum	0.2885145085561211	0.0589500957200194	0.9529918567837128	1.0	1.0	11	O14497,Q969G3,Q01082,Q92785	4
Peters anomaly	0.4600586892729041	0.0589188776624017	0.9530167219705858	1.0	1.0	2	P49454	1
Auditory hallucinations	0.4600586892729	0.0589188776623987	0.9530167219705884	1.0	1.0	2	P18583	1
Hypopigmented macule	0.4521292964806632	0.0575580354627778	0.9541006770733612	1.0	1.0	3	Q15233	1
Calcific stippling	0.4574502771437836	0.0569909799054203	0.954552380456792	1.0	1.0	2	O15228	1
Elevated hepatic transaminase	0.2634326970824417	0.0565749412720867	0.9548837965325369	1.0	1.0	97	P28070,P35670,Q8N511,O43772,P23786,P39210,Q15067,Q13510,P22695,O75431,Q6NUQ1,P55263,P46100,Q16625	14
Abnormal metabolism	0.2634452053069303	0.0562041012846038	0.955179213976858	1.0	1.0	50	P46977,Q9Y487,Q8N511,P41440	4
Dilated fourth ventricle	0.2677182611666233	0.0551798466828141	0.9559951844872214	1.0	1.0	40	Q969G3,O60826,Q9Y487,O14936,Q99567,P23786,O43505,Q8NAT1,Q10713,P07437	10
Vertebral wedging	0.4548418650146658	0.055126358306332	0.956037797176664	1.0	1.0	2	Q96AY3	1
Panhypopituitarism	0.4545158134985311	0.0548976743999595	0.9562199846468185	1.0	1.0	2	Q8N3U4	1
Abnormal dura mater morphology	0.4545158134985311	0.0548976743999595	0.9562199846468185	1.0	1.0	2	Q8N3U4	1
Cyclopia	0.4545158134985311	0.0548976743999595	0.9562199846468185	1.0	1.0	2	Q8N3U4	1
Median cleft lip	0.4545158134985311	0.0548976743999595	0.9562199846468185	1.0	1.0	2	Q8N3U4	1
Abnormal 3rd finger morphology	0.4545158134985297	0.0548976743999587	0.9562199846468192	1.0	1.0	2	Q9Y3E5	1
Heterotropia	0.2600643944266941	0.0545159797230097	0.9565240775437858	1.0	1.0	53	Q5KU26,Q15233,P55795,Q9NSE4,O43924,P46100,Q9UHX1	7
Hypomimic face	0.2936675126561725	0.0521730838968353	0.9583907796541068	1.0	1.0	10	Q15043,P04062	2
Abnormal b cell subset distribution	0.4448793215916344	0.0511542215556589	0.9592026299591192	1.0	1.0	3	P50851,P17812	2
Diastema	0.2997475187302165	0.0509889011149336	0.9593343646720184	1.0	1.0	9	P46100	1
Skeletal dysplasia	0.2668226832970357	0.0497426013196038	0.9603275075163222	1.0	1.0	41	Q7Z4L5,O95831,P16278,O75381,P56589,Q96HY6,P10619	7
Large basal ganglia	0.2672667190711884	0.0482996854520814	0.9614774052357488	1.0	1.0	17	Q08J23	1
Severely reduced visual acuity	0.4440821649820617	0.0480793260797721	0.9616530225462008	1.0	1.0	2	P35222	1
Branchial anomaly	0.2985978519313021	0.0478260665941559	0.96185486218446	1.0	1.0	9	P61978	1
Prolonged bleeding following procedure	0.4427779589175047	0.0472931467148341	0.96227959010209	1.0	1.0	2	P49257	1
Depressed nasal tip	0.3121327892688702	0.0464863779626622	0.9629225911604083	1.0	1.0	5	Q03164	1
Immunodeficiency	0.2484430136211893	0.0462376785099537	0.963120811467882	1.0	1.0	60	P14174,P21964,P09601,Q96A33,P00813,P21912,P46100,Q03252	8
Chorioretinal hypopigmentation	0.4385392892076928	0.0448353875937683	0.9642385182223792	1.0	1.0	2	Q9Y619	1
Hyperparathyroidism	0.4366586847517748	0.0444922481315549	0.9645120309546986	1.0	1.0	3	P53680	1
Primary hyperparathyroidism	0.4366586847517748	0.0444922481315549	0.9645120309546986	1.0	1.0	3	P53680	1
Oculogyric crisis	0.2836538638937279	0.0438895663542799	0.9649924321310964	1.0	1.0	11	Q01105	1
Cerebellar cyst	0.2652925251397872	0.0438142776164824	0.96505244612164	1.0	1.0	37	Q969G3,O60826,Q9Y487,P23786,Q99567,O43505,Q8NAT1,Q9NQT5,P07437	9
Abnormally low pitched voice	0.3075416258570103	0.0435715867134119	0.965245900698224	1.0	1.0	6	O60885,Q14683,Q9UQE7,O75530,Q15022	5
Abnormal carotid artery morphology	0.2730846213509136	0.0435576138516507	0.965257038854466	1.0	1.0	13	P02545	1
Abnormal morphology of the olfactory bulb	0.3305057096247945	0.0429534183341855	0.965738666339348	1.0	1.0	4	Q14683,Q13509,Q8N3U4	3
Broad alveolar ridges	0.4334637964774732	0.0420695294805099	0.966443270609127	1.0	1.0	3	A1X283,Q9UBM7	2
Retinopathy	0.2589838039214027	0.0398421428736938	0.9682189777339214	1.0	1.0	29	O43819,Q9NYB0,O96028,P00846,O75306,Q9H3P2,P07437	7
Specific learning disability	0.2373487679122767	0.0394603645632774	0.9685233533844976	1.0	1.0	65	Q96EK5,P53701,P35637,Q9BVA1,P21964,Q9H6K4,P03915,P00403,Q9BPX6	9
Short 1st metacarpal	0.3074412532637154	0.0393252928346244	0.968631041443992	1.0	1.0	5	O60885,Q14683,Q9NVI1,Q9UQE7	4
Splanchnic vein thrombosis	0.4268014346266672	0.038769566084917	0.9690741093299382	1.0	1.0	2	P35222	1
Portal vein thrombosis	0.4268014346266672	0.038769566084917	0.9690741093299382	1.0	1.0	2	P35222	1
Epigastric pain	0.4268014346266672	0.038769566084917	0.9690741093299382	1.0	1.0	2	P35222	1
Abnormal periventricular white matter morphology	0.2642048065853545	0.0375371890637581	0.9700566884452596	1.0	1.0	37	O75503,P07602,Q9UHX1,O15121	4
Megalencephaly	0.4270622679349983	0.0374862225616837	0.9700973252297382	1.0	1.0	3	O00459	1
Congenital bilateral hip dislocation	0.4238669709814137	0.0374137947733273	0.9701550737333968	1.0	1.0	2	Q9Y4R8	1
Abnormal urine alpha ketoglutarate concentration	0.3036238981390864	0.0362027686033289	0.971120678412034	1.0	1.0	6	Q9UDR5,P21281,P21912,P09622,P00367	5
Abnormal consumption behavior	0.2588197060593048	0.0357945975715288	0.9714461408216684	1.0	1.0	21	Q969G3,O14497,P35610,P49366,Q92785,Q4J6C6	6
Decreased specific antibody response to protein vaccine	0.419302249755446	0.0354250129947793	0.9717408397407504	1.0	1.0	2	P17812	1
Poor motor coordination	0.2703470802265878	0.0346097196559787	0.9723909509797132	1.0	1.0	13	P35670,O75503,Q10713	3
Abnormality of facial musculature	0.2449880060771558	0.0339123387656582	0.9729470539361752	1.0	1.0	78	Q9BUK6,Q15043,P16219,Q9UHX1,O00592,P40855,O75381,Q92796,Q13510,P50570,P06753,P56589,P51812,Q969G3,P10253,P07196,Q00577,Q9BQT8,P04062	19
Postnatal growth retardation	0.2449944958364306	0.0328129497942598	0.9738237513318038	1.0	1.0	61	Q969G3,P33991,P02545,Q9Y487,O75431,P46100,Q08J23,Q03164	8
Decreased specific antibody response to vaccination	0.4194390084800811	0.0324835635180195	0.9740864235253748	1.0	1.0	3	P50851,P17812	2
Butterfly vertebrae	0.4118030648842527	0.0324597928844742	0.9741053797504302	1.0	1.0	2	Q8N3U4	1
Bone spicule pigmentation of the retina	0.3010145355642032	0.0314610089509408	0.9749018870905106	1.0	1.0	6	Q8WWY3,Q9UG56	2
Abnormality of the common coagulation pathway	0.2631751227495862	0.0309275841356578	0.9753272914824404	1.0	1.0	14	P06748,P10644,P23526,Q6UN15,P49257,Q7L590,Q02750,P40763,P38435,P34949,Q14980,P98170,Q4KMQ2	13
Deep set nails	0.4069122921421553	0.0307165129290124	0.9754956219632808	1.0	1.0	2	Q15022	1
Hypoplasia of the ear cartilage	0.4165264424896521	0.0306981624582915	0.97551025661912	1.0	1.0	3	P57740	1
Cerebral cortical atrophy	0.2581955154611516	0.0302284855821084	0.9758848306984064	1.0	1.0	94	Q5KU26,Q9UGU0,Q8TD16,O75503,P03915,O14936,Q9UPT5,P00846,P51812,Q9NSE4,P00403,O43924,P46100,Q16625,Q7LGA3,P04062	16
Restrictive behavior	0.3184339314845058	0.030147967711857	0.9759490453969044	1.0	1.0	4	Q14683,Q01082,P51608	3
Amblyopia	0.2628477900068343	0.0293037960896928	0.9766222993621504	1.0	1.0	15	P53701	1
Abnormal muscle glycogen content	0.317345005945221	0.0290881348342414	0.9767942988257314	1.0	1.0	4	Q9BUK6	1
Respiratory failure requiring assisted ventilation	0.316791286707764	0.028555111909743	0.9772194129778572	1.0	1.0	4	P10253	1
Abdominal obesity	0.4112850619699827	0.0276542068810181	0.9779379473356512	1.0	1.0	3	O00170,O75312	2
Abnormal nervous system electrophysiology	0.318244422156483	0.0274573453625132	0.9780949604786388	1.0	1.0	176	Q9NR77,P20700,Q13885,P02545,P21964,O14936,P39210,Q96A33,P49366,Q08J23,P07602,P40855,Q14108,O75381,P17480,P09471,Q15067,P50897,Q9Y5P6,Q9UBB4,P48449,O96028,P50570,O95831,O75503,Q8NBU5,Q13813,P56589,Q9NSE4,P00403,Q9H4A3,O15121,O14773,Q3ZCQ8,Q96F07,P03915,P07196,Q96N66,Q00577,Q9UBX3,Q99720,O43681	42
Abnormality of the thoracic cavity	0.2619666917210801	0.026908944848044	0.9785323591448848	1.0	1.0	14	Q969G3,O15460	2
Toe clinodactyly	0.2522943390535672	0.0263210116062272	0.9790012958778216	1.0	1.0	23	P51812,Q92796,Q7LGA3	3
Thin nail	0.407045009784726	0.0253459310943668	0.9797790379694842	1.0	1.0	3	Q9H1A4,Q15022	2
Esophageal carcinoma	0.4067188519243271	0.0251739389951801	0.979916224036087	1.0	1.0	3	P25054,Q8N9N2	2
Distal arthrogryposis	0.40522672125416	0.024397077059192	0.980535879801974	1.0	1.0	3	Q96A33	1
Oroticaciduria	0.3844147375285276	0.0243939109027055	0.980538405277734	1.0	1.0	2	Q9Y619	1
Jaundice	0.2579432653407072	0.0236700393569844	0.9811158044370396	1.0	1.0	51	P35670,P40855,Q15904,O75381,O14936,P39210,P56589,P36551,P00374,Q6NUQ1,O15118,Q16625,Q01082	13
Renal tubular atrophy	0.3112561174551423	0.0234425459895388	0.9812972675283962	1.0	1.0	4	Q96AX1,P57740,Q8WUM0	3
Hydrops fetalis	0.2622633614110062	0.0232710471232732	0.981434066506074	1.0	1.0	39	P10619,O96000,P16278,Q13510	4
Blistering by anatomical location	0.3736550374959229	0.0222081672719716	0.9822819026574924	1.0	1.0	2	Q15149	1
Acral blistering	0.3736550374959229	0.0222081672719716	0.9822819026574924	1.0	1.0	2	Q15149	1
Tibial torsion	0.3681121617215539	0.0212580607514016	0.9830397989438256	1.0	1.0	2	Q9Y5S9	1
Aplasia hypoplasia of the sacrum	0.3985309586662406	0.0211080059327366	0.983159498507939	1.0	1.0	3	P04066	1
Generalized dystonia	0.3671340071731359	0.0211017553271175	0.9831644846590788	1.0	1.0	2	O60220	1
Falls	0.2890246197352298	0.0200827808824237	0.983977336241518	1.0	1.0	8	P21912,Q9BQT8	2
Phthisis bulbi	0.3073409461663967	0.0200583446851332	0.9839968295794388	1.0	1.0	4	O60885,Q14683,Q9UQE7	3
Tip toe gait	0.3514835343984344	0.0190126572368586	0.9848310082204405	1.0	1.0	2	O75477	1
Increased c peptide level	0.3472448646886206	0.0185653998112651	0.9851878050269348	1.0	1.0	2	Q16836	1
Hypoplasia of the olfactory bulb	0.3302901858493621	0.0171801551987483	0.9862928937111072	1.0	1.0	2	Q13509	1
Hyperorality	0.3182262797522046	0.0165106776707063	0.9868269837003488	1.0	1.0	2	Q14203	1
Phocomelia	0.3081186827518792	0.0161019961649557	0.9871530210128124	1.0	1.0	2	Q9Y5S9	1
Foot oligodactyly	0.3081186827518741	0.0161019961649554	0.9871530210128128	1.0	1.0	2	P25054	1
Abnormal qrs complex	0.3055102706227621	0.0160150588486762	0.987222378011868	1.0	1.0	2	Q9BTV4	1
Aplasia cutis congenita over the scalp vertex	0.3025758069775062	0.0159252384898663	0.9872940351508804	1.0	1.0	2	Q15149	1
Congenital localized absence of skin	0.3025758069775062	0.0159252384898663	0.9872940351508804	1.0	1.0	2	Q15149	1
Recurrent staphylococcus aureus infections	0.2751874796217868	0.0153972141285122	0.9877152859675332	1.0	1.0	2	O95394	1
Recurrent staphylococcal infections	0.2751874796217868	0.0153972141285122	0.9877152859675332	1.0	1.0	2	O95394	1
Long palm	0.3833285787405698	0.0147579959240897	0.9882252503256876	1.0	1.0	3	P16435	1
Neonatal alloimmune thrombocytopenia	0.3832354859752095	0.014723573452987	0.9882527125001236	1.0	1.0	3	Q9Y3Z3,P55265	2
Csf lymphocytic pleiocytosis	0.3832354859752095	0.014723573452987	0.9882527125001236	1.0	1.0	3	Q9Y3Z3,P55265	2
Chronic lymphatic leukemia	0.3832354859752095	0.014723573452987	0.9882527125001236	1.0	1.0	3	Q9Y3Z3,P55265	2
Csf pleocytosis	0.3832354859752095	0.014723573452987	0.9882527125001236	1.0	1.0	3	Q9Y3Z3,P55265	2
Chilblains	0.3832354859752095	0.014723573452987	0.9882527125001236	1.0	1.0	3	Q9Y3Z3,P55265	2
Rheumatoid factor positive	0.3004893964110962	0.0145823754601794	0.988365360104594	1.0	1.0	4	Q05655,Q13546,O95394	3
Alternating esotropia	0.3798080382939426	0.0134917362544375	0.9892354785173144	1.0	1.0	3	P20700	1
Esophageal stenosis	0.2902383284361826	0.0132747644741156	0.9894085814475764	1.0	1.0	6	P01889,O95453,Q9NX24,O95394,O60832	5
Abnormality of cardiovascular system electrophysiology	0.2669484258428787	0.0126464640744672	0.9899098505250208	1.0	1.0	107	P02545,O43772,P00846,P41227,P21912,P42892,P46100,Q8NFF5,O15460,P07602,P40855,O75381,P36551,Q9Y5P6,P06753,P56589,P00403,Q14BN4,P53701,Q07954,P03915,P10253,P23786,P06280,P50402,P04062	26
Hypoplasia of the brainstem	0.2534342138945347	0.0120698390897949	0.9903698955600112	1.0	1.0	29	Q96EK5,Q13885,P07942,O14936,O43505,Q9UPT5,Q10713,P07437	8
Spastic paraparesis	0.2568150213335121	0.012046415584952	0.9903885834542404	1.0	1.0	18	Q9H6K4,Q6DKK2,P04062	3
Abnormal odontoid tissue morphology	0.2603889589518876	0.0116523116888759	0.9907030107914968	1.0	1.0	43	P53701,P21964,P16278	3
Mitral valve prolapse	0.2557247011210111	0.0114109751058395	0.9908955567219022	1.0	1.0	19	P53701,P55795	2
Abnormal uterus morphology	0.2478975977190785	0.011016852046174	0.991210001652592	1.0	1.0	25	P51812,P21912,P78549	3
Stereotypical hand wringing	0.2933115823817299	0.0094290322747776	0.9924768322014156	1.0	1.0	4	Q14683,P20700,P51608	3
Fatigable weakness of skeletal muscles	0.2837886855217442	0.0085835324075196	0.9931514161122108	1.0	1.0	8	Q9Y5P6,Q13586,P06753	3
Esophageal stricture	0.2913539967373605	0.0081228914582253	0.993518941587997	1.0	1.0	4	P01889,Q9NX24,O95394	3
Nasal speech	0.259184492751178	0.0073826088667707	0.9941095838742796	1.0	1.0	38	Q9UGU0,P06753,Q9Y487,P21964,Q7LGA3,Q15233,Q4J6C6	7
Acute coronary syndrome	0.2555569623374265	0.0056167908774434	0.9955184728417654	1.0	1.0	17	O75844,P06280,P02545	3
Multicystic kidney dysplasia	0.2556308573455722	0.0051260266384006	0.9959100403983618	1.0	1.0	16	P40855,O75381,P56589	3
Stenosis of the external auditory canal	0.2847813404370432	0.0049119980972672	0.9960808083157004	1.0	1.0	6	P16435	1
Ecchymosis	0.2759071592023541	0.0043084281702673	0.9965623823167792	1.0	1.0	10	P06748,Q9Y3A5,P10644,Q6UN15,P27797,P38435,O00170,Q14980,P04062	9
Gangrene	0.2759071592023472	0.0043084281702506	0.9965623823167924	1.0	1.0	10	P49327,P06748,P10644,Q6UN15,P01889,P52732,O15460,Q14980,Q9NZ08	9
Pelvic girdle muscle weakness	0.281621063614157	0.0040116877021378	0.9967991449052712	1.0	1.0	8	O14979	1
Rotary nystagmus	0.2825448613376851	0.0027453419756011	0.9978095367750954	1.0	1.0	4	Q5T8D3,Q9Y4R8,O94905	3
Gray matter heterotopia	0.2474444757429737	0.0022259300321508	0.9982239662605576	1.0	1.0	26	Q2TAA5,P61978,Q9BVA1,P07942,O43505,Q9Y5P6,Q9UEY8,Q86XL3	8
Single naris	0.3303979125896888	0.0020545284843916	0.9983607245958284	1.0	1.0	3	Q14683,Q8N3U4	2
Multiple enchondromatosis	0.2825023977231018	0.0015852372480898	0.99873516420429	1.0	1.0	6	Q13428,P48735	2
Enchondroma	0.2800459258794532	0.0013285733100974	0.998939952179828	1.0	1.0	9	Q13428,P48735,O75874	3
Skin erosion	0.279198253392601	0.000920049400266	0.999265906891919	1.0	1.0	7	O75844,P50336,P02545	3
Neoplasm of the pituitary gland	0.2535582912871703	0.0004177224554741	0.9996667057117694	1.0	1.0	14	Q969G3,P48735,Q12824,O75874	4
Metrorrhagia	0.2754569190600623	0.0001975538790291	0.9998423748110212	1.0	1.0	5	Q6UN15,P06748,Q14980,P10644	4
Diffuse alveolar hemorrhage	0.2754569190600623	0.0001975538790291	0.9998423748110212	1.0	1.0	5	Q6UN15,P06748,Q14980,P10644	4