Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001251	HP:0001251	Ataxia	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	79	117	13666	605378
HP:0001251	HP:0001251	Ataxia	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	31	320	21022	612035
HP:0001251	HP:0001251	Ataxia	0	ABCB7 CL E G H	22	2802				ORPHA	1	9	243	48	300135
HP:0001251	HP:0001251	Ataxia	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	661	1108	59	600509
HP:0001251	HP:0001251	Ataxia	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	21	311	15868	613599
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	98907				ORPHA	1	39	172	21396	604780
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	39	172	21396	604780
HP:0001251	HP:0001251	Ataxia	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	19	279	118	100850
HP:0001251	HP:0001251	Ataxia	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	55	309	1839	607575
HP:0001251	HP:0001251	Ataxia	0	AGRN CL E G H	375790	98914				ORPHA	1	18	1303	329	103320
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	220493				ORPHA	1	96	634	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	96	634	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	634	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AKT1 CL E G H	207	201				ORPHA	1	12	379	391	164730
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	75	465	408	610045
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0001251	HP:0001251	Ataxia	0	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1	26	306	23157	604566
HP:0001251	HP:0001251	Ataxia	0	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	191	389	6211	300836
HP:0001251	HP:0001251	Ataxia	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	16	699	22197	613653
HP:0001251	HP:0001251	Ataxia	0	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1	333	2315	603	107730
HP:0001251	HP:0001251	Ataxia	0	APOPT1 CL E G H	84334	436271				ORPHA	1		121	20492	616003
HP:0001251	HP:0001251	Ataxia	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		121	20492	616003
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	1168				ORPHA	1	46	230	15984	606350
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	46	230	15984	606350
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	10	183	25419	608922
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	10	183	25419	608922
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	3	63	694	604695
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	3	63	694	604695
HP:0001251	HP:0001251	Ataxia	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	11	250	20730	617612
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	723	713	607574
HP:0001251	HP:0001251	Ataxia	0	ARSG CL E G H	22901	231183				ORPHA	1	3	174	24102	610008
HP:0001251	HP:0001251	Ataxia	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	3	61	29561	611647
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	169	418	746	608310
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	169	418	746	608310
HP:0001251	HP:0001251	Ataxia	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	157	472	758	603470
HP:0001251	HP:0001251	Ataxia	0	ATAD1 CL E G H	84896	3197	Lateral body wall defect			ORPHA	1	3	27	25903	614452
HP:0001251	HP:0001251	Ataxia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	234	25567	612316
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	100				ORPHA	1	1324	10266	795	607585
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	1324	10266	795	607585
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	44	479	30213	610513
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	44	479	30213	610513
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	569				ORPHA	1	99	706	800	182340
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	1171				ORPHA	1	122	597	801	182350
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	122	597	801	182350
HP:0001251	HP:0001251	Ataxia	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	7	291	816	300014
HP:0001251	HP:0001251	Ataxia	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	11	119	13533	605870
HP:0001251	HP:0001251	Ataxia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	2	209	18802	608918
HP:0001251	HP:0001251	Ataxia	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	12	143	890	600529
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	10	195	24123	614144
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	10	195	24123	614144
HP:0001251	HP:0001251	Ataxia	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	489	966	209901
HP:0001251	HP:0001251	Ataxia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	101	379	986	608348
HP:0001251	HP:0001251	Ataxia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	115	447	987	248611
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	246	1020	603647
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	37	246	1020	603647
HP:0001251	HP:0001251	Ataxia	0	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	2	35	24160	612051
HP:0001251	HP:0001251	Ataxia	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	50	321	15832	606158
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	79241				ORPHA	1	248	450	1122	609019
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	450	1122	609019
HP:0001251	HP:0001251	Ataxia	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11		26784	613541
HP:0001251	HP:0001251	Ataxia	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	38	238	25443	614297
HP:0001251	HP:0001251	Ataxia	0	C9orf72 CL E G H	203228	401901				ORPHA	1	24	160	28337	614260
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	1766				ORPHA	1	4	77	1382	114815
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1	4	77	1382	114815
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	71518				ORPHA	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	569				ORPHA	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	97				ORPHA	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	2318				ORPHA	1	96	865	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	865	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	865	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CDH23 CL E G H	64072	231169				ORPHA	1	361	2572	13733	605516
HP:0001251	HP:0001251	Ataxia	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	7	343	24866	616690
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	220493				ORPHA	1	9	200	26690	613446
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	9	200	26690	613446
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	2318				ORPHA	1	310	1517	29021	610142
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	310	1517	29021	610142
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	220493				ORPHA	1	11	297	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	11	297	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	11	297	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP78 CL E G H	84131	231183				ORPHA	1	10	282	25740	617110
HP:0001251	HP:0001251	Ataxia	0	CHAT CL E G H	1103	98914				ORPHA	1	77	500	1912	118490
HP:0001251	HP:0001251	Ataxia	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	27	202	15559	615903
HP:0001251	HP:0001251	Ataxia	0	CHD2 CL E G H	1106	1942				ORPHA	1	60	1126	1917	602119
HP:0001251	HP:0001251	Ataxia	0	CIB2 CL E G H	10518	231169				ORPHA	1	18	137	24579	605564
HP:0001251	HP:0001251	Ataxia	0	CISD2 CL E G H	493856	3463				ORPHA	1	4	26	24212	611507
HP:0001251	HP:0001251	Ataxia	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	52	443	2076	608102
HP:0001251	HP:0001251	Ataxia	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	85	458	2077	606725
HP:0001251	HP:0001251	Ataxia	0	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	44	428	2079	607837
HP:0001251	HP:0001251	Ataxia	0	CLRN1 CL E G H	7401	231183				ORPHA	1	39	239	12605	606397
HP:0001251	HP:0001251	Ataxia	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	14	90	2092	118955
HP:0001251	HP:0001251	Ataxia	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	78	1300	13830	604569
HP:0001251	HP:0001251	Ataxia	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	7	27	25716	615623
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	263501				ORPHA	1	6	209	18620	606976
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	6	209	18620	606976
HP:0001251	HP:0001251	Ataxia	0	COL13A1 CL E G H	1305	98914				ORPHA	1	3	175	2190	120350
HP:0001251	HP:0001251	Ataxia	0	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	36	751	2195	120328
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	33	134	25223	609825
HP:0001251	HP:0001251	Ataxia	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	43	363	16812	606980
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	13	245	2260	602125
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	245	2260	602125
HP:0001251	HP:0001251	Ataxia	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	19	28216	614478
HP:0001251	HP:0001251	Ataxia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	215	2263	603646
HP:0001251	HP:0001251	Ataxia	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	137	26970	614698
HP:0001251	HP:0001251	Ataxia	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	42	2280	124089
HP:0001251	HP:0001251	Ataxia	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	16	2294	123870
HP:0001251	HP:0001251	Ataxia	0	CP CL E G H	1356	48818				ORPHA	1	60	465	2295	117700
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	118	806	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	118	806	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	118	806	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	276	807	2323	608307
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	27	457	26193	611654
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	457	26193	611654
HP:0001251	HP:0001251	Ataxia	0	CSTB CL E G H	1476	254800	Unverricht-Lundborg syndrome	254800	C0751785	OMIM	1	15	221	2482	601145
HP:0001251	HP:0001251	Ataxia	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	34	722	26169	613129
HP:0001251	HP:0001251	Ataxia	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	322	2498	604927
HP:0001251	HP:0001251	Ataxia	0	CTNNA2 CL E G H	1496	618174	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174		OMIM	1	6	85	2510	114025
HP:0001251	HP:0001251	Ataxia	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	410	2529	116840
HP:0001251	HP:0001251	Ataxia	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	11	119	2531	603539
HP:0001251	HP:0001251	Ataxia	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	116	439	2605	606530
HP:0001251	HP:0001251	Ataxia	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	2	78	2661	603448
HP:0001251	HP:0001251	Ataxia	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	65	220	25538	610956
HP:0001251	HP:0001251	Ataxia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	78	465	2698	248610
HP:0001251	HP:0001251	Ataxia	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	142	352	2714	300121
HP:0001251	HP:0001251	Ataxia	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	9	275	2861	126060
HP:0001251	HP:0001251	Ataxia	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	6	37	16716	616423
HP:0001251	HP:0001251	Ataxia	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	162	2896	608770
HP:0001251	HP:0001251	Ataxia	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	23	327	2898	238331
HP:0001251	HP:0001251	Ataxia	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	9	157	2938	612186
HP:0001251	HP:0001251	Ataxia	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	6	75	30528	608977
HP:0001251	HP:0001251	Ataxia	0	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	2	333	16235	611203
HP:0001251	HP:0001251	Ataxia	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	23	731	2976	126375
HP:0001251	HP:0001251	Ataxia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	9	155	3005	603503
HP:0001251	HP:0001251	Ataxia	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	70	218	3180	131244
HP:0001251	HP:0001251	Ataxia	0	ELP1 CL E G H	8518	1764				ORPHA	1	6	1051	5959	603722
HP:0001251	HP:0001251	Ataxia	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1	6		3418	138295
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	220295				ORPHA	1	108	319	3434	126340
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	319	3434	126340
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	220295				ORPHA	1	20	171	3435	133510
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	20	171	3435	133510
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	220295				ORPHA	1	72	450	3436	133520
HP:0001251	HP:0001251	Ataxia	0	ERCC5 CL E G H	2073	220295				ORPHA	1	59	336	3437	133530
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	140	815	3438	609413
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	815	3438	609413
HP:0001251	HP:0001251	Ataxia	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	70	309	3439	609412
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	51188				ORPHA	1	37	203	23287	608451
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	37	203	23287	608451
HP:0001251	HP:0001251	Ataxia	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	267	29160	612322
HP:0001251	HP:0001251	Ataxia	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	17	324	24682	609144
HP:0001251	HP:0001251	Ataxia	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	57	25491	616305
HP:0001251	HP:0001251	Ataxia	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	6	295	29007	300838
HP:0001251	HP:0001251	Ataxia	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	64	103	3999	134790
HP:0001251	HP:0001251	Ataxia	0	GABRA1 CL E G H	2554	33069				ORPHA	1	48	409	4075	137160
HP:0001251	HP:0001251	Ataxia	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	5	49	4081	137190
HP:0001251	HP:0001251	Ataxia	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	16	310	4082	600232
HP:0001251	HP:0001251	Ataxia	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	67	632	4083	137192
HP:0001251	HP:0001251	Ataxia	0	GABRG2 CL E G H	2566	33069				ORPHA	1	47	410	4087	137164
HP:0001251	HP:0001251	Ataxia	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	60	379	4136	601240
HP:0001251	HP:0001251	Ataxia	0	GBA CL E G H	2629	77261				ORPHA	1	494	245	4177	606463
HP:0001251	HP:0001251	Ataxia	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	494	245	4177	606463
HP:0001251	HP:0001251	Ataxia	0	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	135	272	4235	137780
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	162	4274	121014
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	109	162	4274	121014
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	320401				ORPHA	1	57	167	17494	608803
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	57	167	17494	608803
HP:0001251	HP:0001251	Ataxia	0	GLB1 CL E G H	2720	230600	GM1 gangliosidosis type 2	230600	C0268272	OMIM	1	231	502	4298	611458
HP:0001251	HP:0001251	Ataxia	0	GLRA1 CL E G H	2741	3197	Lateral body wall defect			ORPHA	1	72	294	4326	138491
HP:0001251	HP:0001251	Ataxia	0	GLRB CL E G H	2743	3197	Lateral body wall defect			ORPHA	1	19	156	4329	138492
HP:0001251	HP:0001251	Ataxia	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	49	197	22932	615320
HP:0001251	HP:0001251	Ataxia	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	5	210	4431	604027
HP:0001251	HP:0001251	Ataxia	0	GPHN CL E G H	10243	3197	Lateral body wall defect			ORPHA	1	20	261	15465	603930
HP:0001251	HP:0001251	Ataxia	0	GPI CL E G H	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	613470	C3150730	OMIM	1	42	67	4458	172400
HP:0001251	HP:0001251	Ataxia	0	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	231	295	4601	138945
HP:0001251	HP:0001251	Ataxia	0	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	40	122	4624	601002
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	464282				ORPHA	1	13	73	21033	610876
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	13	73	21033	610876
HP:0001251	HP:0001251	Ataxia	0	HARS CL E G H	3035	231183				ORPHA	1	13		4816	142810
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	28	201	26361	611642
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	28	201	26361	611642
HP:0001251	HP:0001251	Ataxia	0	HEXB CL E G H	3074	268800	Sandhoff disease	268800	C0036161	OMIM	1	126	357	4879	606873
HP:0001251	HP:0001251	Ataxia	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	4	184	5042	300610
HP:0001251	HP:0001251	Ataxia	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	54	162	9476	602194
HP:0001251	HP:0001251	Ataxia	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	2	171	26558	610693
HP:0001251	HP:0001251	Ataxia	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	72	837	29077	614620
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	220493				ORPHA	1	54	461	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	54	461	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	461	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	461	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5K CL E G H	51763	559				ORPHA	1	10	141	33882	607875
HP:0001251	HP:0001251	Ataxia	0	ITM2B CL E G H	9445	117300	Dementia, familial Danish	117300	C1861735	OMIM	1	6	68	6174	603904
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	95	850	6180	147265
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	95	850	6180	147265
HP:0001251	HP:0001251	Ataxia	0	KCNA1 CL E G H	3736	972				ORPHA	1	48	384	6218	176260
HP:0001251	HP:0001251	Ataxia	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	21	229	6220	176262
HP:0001251	HP:0001251	Ataxia	0	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	289	6256	602208
HP:0001251	HP:0001251	Ataxia	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	1	2		29068	616650
HP:0001251	HP:0001251	Ataxia	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	31	319	19960	610178
HP:0001251	HP:0001251	Ataxia	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	7	118	29110	617112
HP:0001251	HP:0001251	Ataxia	0	KIF1A CL E G H	547	101010				ORPHA	1	43	1405	888	601255
HP:0001251	HP:0001251	Ataxia	0	KIF7 CL E G H	374654	2754				ORPHA	1	45	513	30497	611254
HP:0001251	HP:0001251	Ataxia	0	KLLN CL E G H	100144748	201				ORPHA	1	8	247	37212	612105
HP:0001251	HP:0001251	Ataxia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	4	188	6556	604407
HP:0001251	HP:0001251	Ataxia	0	LMBRD1 CL E G H	55788	79284				ORPHA	1	9	152	23038	612625
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	99027				ORPHA	1	35	126	6637	150340
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	35	126	6637	150340
HP:0001251	HP:0001251	Ataxia	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	806	15714	607544
HP:0001251	HP:0001251	Ataxia	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	9	62	28072	615831
HP:0001251	HP:0001251	Ataxia	0	MAST1 CL E G H	22983	618273	618273	618273		OMIM	1	4	44	19034	612256
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	228402				ORPHA	1	91	852	20444	611472
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	852	20444	611472
HP:0001251	HP:0001251	Ataxia	0	MCOLN1 CL E G H	57192	578	Akesson syndrome			ORPHA	1	36	415	13356	605248
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	778				ORPHA	1	1050	1584	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1050	1584	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1050	1584	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	6	49	19691	608205
HP:0001251	HP:0001251	Ataxia	0	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	81	524	22962	608771
HP:0001251	HP:0001251	Ataxia	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	49	514	28486	611124
HP:0001251	HP:0001251	Ataxia	0	MICOS13 CL E G H	125988	67047				ORPHA	1		19	33702	616658
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	220493				ORPHA	1	52	473	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	1	52	473	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	617121	Joubert syndrome 28	617121	C4310705	OMIM	1	52	473	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MLC1 CL E G H	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	111	477	17082	605908
HP:0001251	HP:0001251	Ataxia	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	7	93	7207	604041
HP:0001251	HP:0001251	Ataxia	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	50	154	7224	137960
HP:0001251	HP:0001251	Ataxia	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7414	516060
HP:0001251	HP:0001251	Ataxia	0	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1			7414	516060
HP:0001251	HP:0001251	Ataxia	0	MT-ATP8 CL E G H	4509	480				ORPHA	1			7415	516070
HP:0001251	HP:0001251	Ataxia	0	MT-CO1 CL E G H	4512	550				ORPHA	1			7419	516030
HP:0001251	HP:0001251	Ataxia	0	MT-CO2 CL E G H	4513	550				ORPHA	1			7421	516040
HP:0001251	HP:0001251	Ataxia	0	MT-CO3 CL E G H	4514	550				ORPHA	1			7422	516050
HP:0001251	HP:0001251	Ataxia	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7422	516050
HP:0001251	HP:0001251	Ataxia	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7427	516020
HP:0001251	HP:0001251	Ataxia	0	MT-ND1 CL E G H	4535	550				ORPHA	1			7455	516000
HP:0001251	HP:0001251	Ataxia	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7455	516000
HP:0001251	HP:0001251	Ataxia	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7456	516001
HP:0001251	HP:0001251	Ataxia	0	MT-ND4 CL E G H	4538	550				ORPHA	1			7459	516003
HP:0001251	HP:0001251	Ataxia	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7459	516003
HP:0001251	HP:0001251	Ataxia	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7460	516004
HP:0001251	HP:0001251	Ataxia	0	MT-ND5 CL E G H	4540	550				ORPHA	1			7461	516005
HP:0001251	HP:0001251	Ataxia	0	MT-ND5 CL E G H	4540	551				ORPHA	1			7461	516005
HP:0001251	HP:0001251	Ataxia	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7461	516005
HP:0001251	HP:0001251	Ataxia	0	MT-ND6 CL E G H	4541	550				ORPHA	1			7462	516006
HP:0001251	HP:0001251	Ataxia	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7462	516006
HP:0001251	HP:0001251	Ataxia	0	MT-RNR1 CL E G H	4549	551				ORPHA	1			7470	180450
HP:0001251	HP:0001251	Ataxia	0	MT-TF CL E G H	4558	550				ORPHA	1			7481	590070
HP:0001251	HP:0001251	Ataxia	0	MT-TF CL E G H	4558	551				ORPHA	1			7481	590070
HP:0001251	HP:0001251	Ataxia	0	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1			7481	590070
HP:0001251	HP:0001251	Ataxia	0	MT-TH CL E G H	4564	550				ORPHA	1			7487	590040
HP:0001251	HP:0001251	Ataxia	0	MT-TH CL E G H	4564	551				ORPHA	1			7487	590040
HP:0001251	HP:0001251	Ataxia	0	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1			7488	590045
HP:0001251	HP:0001251	Ataxia	0	MT-TK CL E G H	4566	551				ORPHA	1			7489	590060
HP:0001251	HP:0001251	Ataxia	0	MT-TK CL E G H	4566	1349	Chromosome 9, partial monosomy 9p		C2931695	ORPHA	1			7489	590060
HP:0001251	HP:0001251	Ataxia	0	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1			7489	590060
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	551				ORPHA	1			7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	550				ORPHA	1			7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	480				ORPHA	1			7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1			7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1			7493	590010
HP:0001251	HP:0001251	Ataxia	0	MT-TP CL E G H	4571	551				ORPHA	1			7494	590075
HP:0001251	HP:0001251	Ataxia	0	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1			7494	590075
HP:0001251	HP:0001251	Ataxia	0	MT-TQ CL E G H	4572	551				ORPHA	1			7495	590030
HP:0001251	HP:0001251	Ataxia	0	MT-TQ CL E G H	4572	550				ORPHA	1			7495	590030
HP:0001251	HP:0001251	Ataxia	0	MT-TS1 CL E G H	4574	550				ORPHA	1			7497	590080
HP:0001251	HP:0001251	Ataxia	0	MT-TS1 CL E G H	4574	551				ORPHA	1			7497	590080
HP:0001251	HP:0001251	Ataxia	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1			7497	590080
HP:0001251	HP:0001251	Ataxia	0	MT-TS2 CL E G H	4575	550				ORPHA	1			7498	590085
HP:0001251	HP:0001251	Ataxia	0	MT-TS2 CL E G H	4575	231183				ORPHA	1			7498	590085
HP:0001251	HP:0001251	Ataxia	0	MT-TS2 CL E G H	4575	551				ORPHA	1			7498	590085
HP:0001251	HP:0001251	Ataxia	0	MT-TW CL E G H	4578	550				ORPHA	1			7501	590095
HP:0001251	HP:0001251	Ataxia	0	MTTP CL E G H	4547	200100	Abetalipoproteinaemia	200100	C0000744	OMIM	1	76	438	7467	157147
HP:0001251	HP:0001251	Ataxia	0	MTTP CL E G H	4547	14	Bilateral squint		CN228276	ORPHA	1	76	438	7467	157147
HP:0001251	HP:0001251	Ataxia	0	MVK CL E G H	4598	29				ORPHA	1	183	370	7530	251170
HP:0001251	HP:0001251	Ataxia	0	MYO5A CL E G H	4644	79476				ORPHA	1	12	214	7602	160777
HP:0001251	HP:0001251	Ataxia	0	MYO7A CL E G H	4647	231169				ORPHA	1	527	2164	7606	276903
HP:0001251	HP:0001251	Ataxia	0	MYO9A CL E G H	4649	98914				ORPHA	1	6	164	7608	604875
HP:0001251	HP:0001251	Ataxia	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	73	19237	605202
HP:0001251	HP:0001251	Ataxia	0	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	10	55	18453	608862
HP:0001251	HP:0001251	Ataxia	0	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	10	162	28625	612392
HP:0001251	HP:0001251	Ataxia	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	28	256	7707	157655
HP:0001251	HP:0001251	Ataxia	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	97	7711	602694
HP:0001251	HP:0001251	Ataxia	0	NDUFS7 CL E G H	374291	618224	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224		OMIM	1	8	128	7714	601825
HP:0001251	HP:0001251	Ataxia	0	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	36	172	7716	161015
HP:0001251	HP:0001251	Ataxia	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	4	171	12768	606026
HP:0001251	HP:0001251	Ataxia	0	NEU1 CL E G H	4758	812				ORPHA	1	64	110	7758	608272
HP:0001251	HP:0001251	Ataxia	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	616	29433	300524
HP:0001251	HP:0001251	Ataxia	0	NF2 CL E G H	4771	637				ORPHA	1	437	1010	7773	607379
HP:0001251	HP:0001251	Ataxia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	143	163	11825	600635
HP:0001251	HP:0001251	Ataxia	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	9	116	19321	605955
HP:0001251	HP:0001251	Ataxia	0	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	1	14	7849	156490
HP:0001251	HP:0001251	Ataxia	0	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	3	41	7869	605235
HP:0001251	HP:0001251	Ataxia	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	4	177	7871	300084
HP:0001251	HP:0001251	Ataxia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	478	1078	7897	607623
HP:0001251	HP:0001251	Ataxia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	27	126	14537	601015
HP:0001251	HP:0001251	Ataxia	0	NPHP1 CL E G H	4867	220497				ORPHA	1	79	525	7905	607100
HP:0001251	HP:0001251	Ataxia	0	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	79	525	7905	607100
HP:0001251	HP:0001251	Ataxia	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	14	239	12766	602952
HP:0001251	HP:0001251	Ataxia	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	14	221	20278	613621
HP:0001251	HP:0001251	Ataxia	0	OFD1 CL E G H	8481	2754				ORPHA	1	162	633	2567	300170
HP:0001251	HP:0001251	Ataxia	0	OFD1 CL E G H	8481	2750				ORPHA	1	162	633	2567	300170
HP:0001251	HP:0001251	Ataxia	0	OGDH CL E G H	4967	31	Serpiginous choroiditis			ORPHA	1	1	77	8124	613022
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	67047				ORPHA	1	15	366	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	67036				ORPHA	1	15	366	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	15	366	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	1	527	739	8512	300461
HP:0001251	HP:0001251	Ataxia	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	182	258	15894	606157
HP:0001251	HP:0001251	Ataxia	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	571	570	8620	607108
HP:0001251	HP:0001251	Ataxia	0	PCDH15 CL E G H	65217	231169				ORPHA	1	122	1692	14674	605514
HP:0001251	HP:0001251	Ataxia	0	PCDH19 CL E G H	57526	33069				ORPHA	1	205	900	14270	300460
HP:0001251	HP:0001251	Ataxia	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	1	40	8729	176740
HP:0001251	HP:0001251	Ataxia	0	PDE6D CL E G H	5147	2754				ORPHA	1	1	41	8788	602676
HP:0001251	HP:0001251	Ataxia	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0001251	HP:0001251	Ataxia	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	2	42	40038	614770
HP:0001251	HP:0001251	Ataxia	0	PEX1 CL E G H	5189	772				ORPHA	1	140	782	8850	602136
HP:0001251	HP:0001251	Ataxia	0	PEX10 CL E G H	5192	772				ORPHA	1	32	475	8851	602859
HP:0001251	HP:0001251	Ataxia	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	32	475	8851	602859
HP:0001251	HP:0001251	Ataxia	0	PEX11B CL E G H	8799	772				ORPHA	1	8	281	8853	603867
HP:0001251	HP:0001251	Ataxia	0	PEX12 CL E G H	5193	772				ORPHA	1	37	240	8854	601758
HP:0001251	HP:0001251	Ataxia	0	PEX13 CL E G H	5194	772				ORPHA	1	10	232	8855	601789
HP:0001251	HP:0001251	Ataxia	0	PEX14 CL E G H	5195	772				ORPHA	1	5	234	8856	601791
HP:0001251	HP:0001251	Ataxia	0	PEX16 CL E G H	9409	772				ORPHA	1	15	203	8857	603360
HP:0001251	HP:0001251	Ataxia	0	PEX19 CL E G H	5824	772				ORPHA	1	4	179	9713	600279
HP:0001251	HP:0001251	Ataxia	0	PEX2 CL E G H	5828	772				ORPHA	1	18	251	9717	170993
HP:0001251	HP:0001251	Ataxia	0	PEX26 CL E G H	55670	772				ORPHA	1	27	313	22965	608666
HP:0001251	HP:0001251	Ataxia	0	PEX3 CL E G H	8504	772				ORPHA	1	10	155	8858	603164
HP:0001251	HP:0001251	Ataxia	0	PEX5 CL E G H	5830	772				ORPHA	1	14	403	9719	600414
HP:0001251	HP:0001251	Ataxia	0	PEX6 CL E G H	5190	772				ORPHA	1	109	639	8859	601498
HP:0001251	HP:0001251	Ataxia	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	109	639	8859	601498
HP:0001251	HP:0001251	Ataxia	0	PEX7 CL E G H	5191	773				ORPHA	1	53	310	8860	601757
HP:0001251	HP:0001251	Ataxia	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	53	310	8860	601757
HP:0001251	HP:0001251	Ataxia	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	1	28	217	8896	311800
HP:0001251	HP:0001251	Ataxia	0	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	16	161	8907	172100
HP:0001251	HP:0001251	Ataxia	0	PHYH CL E G H	5264	773				ORPHA	1	37	201	8940	602026
HP:0001251	HP:0001251	Ataxia	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	37	201	8940	602026
HP:0001251	HP:0001251	Ataxia	0	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	1	8	92	23352	607532
HP:0001251	HP:0001251	Ataxia	0	PIBF1 CL E G H	10464	617767	JOUBERT SYNDROME 33	617767	C4540389	OMIM	1	8	92	23352	607532
HP:0001251	HP:0001251	Ataxia	0	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	6	557	25985	616918
HP:0001251	HP:0001251	Ataxia	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	12	115	14938	610272
HP:0001251	HP:0001251	Ataxia	0	PIK3CA CL E G H	5290	201				ORPHA	1	57	531	8975	171834
HP:0001251	HP:0001251	Ataxia	0	PIK3R5 CL E G H	23533	64753				ORPHA	1	2	44	30035	611317
HP:0001251	HP:0001251	Ataxia	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	179	413	9039	603604
HP:0001251	HP:0001251	Ataxia	0	PLEKHG4 CL E G H	25894	98765				ORPHA	1	2	40	24501	609526
HP:0001251	HP:0001251	Ataxia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	352	328	9086	300401
HP:0001251	HP:0001251	Ataxia	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	129	484	9115	601785
HP:0001251	HP:0001251	Ataxia	0	PMPCA CL E G H	23203	1170				ORPHA	1	8	127	18667	613036
HP:0001251	HP:0001251	Ataxia	0	PNKP CL E G H	11284	616267	Ataxia-oculomotor apraxia 4	616267	C4225397	OMIM	1	24	665	9154	605610
HP:0001251	HP:0001251	Ataxia	0	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	34	163	7892	164050
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	1180				ORPHA	1	61	666	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	61	666	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	1173	CDG syndrome type 3			ORPHA	1	61	666	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	245800	Laurence-Moon syndrome	245800	C0023138	OMIM	1	61	666	16268	603197
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	726				ORPHA	1	300	1438	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	300	1438	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	1438	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLR1C CL E G H	9533	88637				ORPHA	1	21	944	20194	610060
HP:0001251	HP:0001251	Ataxia	0	POLR3A CL E G H	11128	88637				ORPHA	1	92	453	30074	614258
HP:0001251	HP:0001251	Ataxia	0	POLR3B CL E G H	55703	88637				ORPHA	1	58	288	30348	614366
HP:0001251	HP:0001251	Ataxia	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	77	420	9325	600722
HP:0001251	HP:0001251	Ataxia	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	184	294	9360	170280
HP:0001251	HP:0001251	Ataxia	0	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	109	129	9449	176640
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	297	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	32	297	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	32	297	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRRT2 CL E G H	112476	569				ORPHA	1	105	589	30500	614386
HP:0001251	HP:0001251	Ataxia	0	PRRT2 CL E G H	112476	31709				ORPHA	1	105	589	30500	614386
HP:0001251	HP:0001251	Ataxia	0	PTEN CL E G H	5728	201				ORPHA	1	658	2224	9588	601728
HP:0001251	HP:0001251	Ataxia	0	PTEN CL E G H	5728	65285				ORPHA	1	658	2224	9588	601728
HP:0001251	HP:0001251	Ataxia	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	2	36	24265	608625
HP:0001251	HP:0001251	Ataxia	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	112	153	9689	612719
HP:0001251	HP:0001251	Ataxia	0	RAD50 CL E G H	10111	613078	Nijmegen breakage syndrome-like disorder	613078	C2751318	OMIM	1	95	2592	9816	604040
HP:0001251	HP:0001251	Ataxia	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	13	231	30220	611908
HP:0001251	HP:0001251	Ataxia	0	RIPK4 CL E G H	54101	1401				ORPHA	1	16	263	496	605706
HP:0001251	HP:0001251	Ataxia	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	4	85	18466	604123
HP:0001251	HP:0001251	Ataxia	0	RNF168 CL E G H	165918	611943	Riddle syndrome	611943	C2677792	OMIM	1	6	142	26661	612688
HP:0001251	HP:0001251	Ataxia	0	RNF216 CL E G H	54476	1173	CDG syndrome type 3			ORPHA	1	14	130	21698	609948
HP:0001251	HP:0001251	Ataxia	0	RNF216 CL E G H	54476	212840	Gordon Holmes syndrome	212840	C1859305	OMIM	1	14	130	21698	609948
HP:0001251	HP:0001251	Ataxia	0	ROGDI CL E G H	79641	226750	Kohlschutter's syndrome	226750	C0406740	OMIM	1	13	337	29478	614574
HP:0001251	HP:0001251	Ataxia	0	RORA CL E G H	6095	618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA	618060	CN252646	OMIM	1	15	58	10258	600825
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	220497				ORPHA	1	51	779	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	779	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	779	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	51	779	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	7	63	10297	180430
HP:0001251	HP:0001251	Ataxia	0	RRM2B CL E G H	50484	480				ORPHA	1	43	253	17296	604712
HP:0001251	HP:0001251	Ataxia	0	RUBCN CL E G H	9711	615705	Spinocerebellar ataxia, autosomal recessive 15	615705	C3810326	OMIM	1	4	112	28991	613516
HP:0001251	HP:0001251	Ataxia	0	SAMD9L CL E G H	219285	2585				ORPHA	1	19	115	1349	611170
HP:0001251	HP:0001251	Ataxia	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	19	115	1349	611170
HP:0001251	HP:0001251	Ataxia	0	SARS CL E G H	6301	617709	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	617709	C4540188	OMIM	1	3		10537	607529
HP:0001251	HP:0001251	Ataxia	0	SCN1A CL E G H	6323	33069				ORPHA	1	1611	2639	10585	182389
HP:0001251	HP:0001251	Ataxia	0	SCN1A CL E G H	6323	569				ORPHA	1	1611	2639	10585	182389
HP:0001251	HP:0001251	Ataxia	0	SCN1A CL E G H	6323	607208	Severe myoclonic epilepsy in infancy	607208	C0751122	OMIM	1	1611	2639	10585	182389
HP:0001251	HP:0001251	Ataxia	0	SCN1B CL E G H	6324	33069				ORPHA	1	31	347	10586	600235
HP:0001251	HP:0001251	Ataxia	0	SCN2A CL E G H	6326	33069				ORPHA	1	268	1422	10588	182390
HP:0001251	HP:0001251	Ataxia	0	SCN8A CL E G H	6334	31709				ORPHA	1	103	1074	10596	600702
HP:0001251	HP:0001251	Ataxia	0	SCN9A CL E G H	6335	33069				ORPHA	1	129	1427	10597	603415
HP:0001251	HP:0001251	Ataxia	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	5	141	10603	603644
HP:0001251	HP:0001251	Ataxia	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	91	1538	10680	600857
HP:0001251	HP:0001251	Ataxia	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	91	1538	10680	600857
HP:0001251	HP:0001251	Ataxia	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	6	46	33867	612848
HP:0001251	HP:0001251	Ataxia	0	SDHB CL E G H	6390	201				ORPHA	1	279	819	10681	185470
HP:0001251	HP:0001251	Ataxia	0	SDHC CL E G H	6391	201				ORPHA	1	62	522	10682	602413
HP:0001251	HP:0001251	Ataxia	0	SDHD CL E G H	6392	201				ORPHA	1	174	438	10683	602690
HP:0001251	HP:0001251	Ataxia	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	174	438	10683	602690
HP:0001251	HP:0001251	Ataxia	0	SEC23B CL E G H	10483	201				ORPHA	1	126	216	10702	610512
HP:0001251	HP:0001251	Ataxia	0	SETX CL E G H	23064	64753				ORPHA	1	216	911	445	608465
HP:0001251	HP:0001251	Ataxia	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	18	54	10817	603729
HP:0001251	HP:0001251	Ataxia	0	SIL1 CL E G H	64374	559				ORPHA	1	49	202	24624	608005
HP:0001251	HP:0001251	Ataxia	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	49	202	24624	608005
HP:0001251	HP:0001251	Ataxia	0	SLC12A3 CL E G H	6559	263800	Familial hypokalemia-hypomagnesemia	263800	C0268450	OMIM	1	504	775	10912	600968
HP:0001251	HP:0001251	Ataxia	0	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	21	428	23089	608305
HP:0001251	HP:0001251	Ataxia	0	SLC16A2 CL E G H	6567	59				ORPHA	1	88	279	10923	300095
HP:0001251	HP:0001251	Ataxia	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	88	279	10923	300095
HP:0001251	HP:0001251	Ataxia	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	55	284	10933	604322
HP:0001251	HP:0001251	Ataxia	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	6	98	10936	600336
HP:0001251	HP:0001251	Ataxia	0	SLC1A3 CL E G H	6507	209967				ORPHA	1	18	173	10941	600111
HP:0001251	HP:0001251	Ataxia	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	24	463	10979	190315
HP:0001251	HP:0001251	Ataxia	0	SLC2A1 CL E G H	6513	71277				ORPHA	1	281	644	11005	138140
HP:0001251	HP:0001251	Ataxia	0	SLC2A1 CL E G H	6513	606777	GLUT1 deficiency syndrome 1	606777	CN030711	OMIM	1	281	644	11005	138140
HP:0001251	HP:0001251	Ataxia	0	SLC2A1 CL E G H	6513	612126	GLUT1 deficiency syndrome 2	612126	C1842534	OMIM	1	281	644	11005	138140
HP:0001251	HP:0001251	Ataxia	0	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	281	644	11005	138140
HP:0001251	HP:0001251	Ataxia	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	2	22	1329	604604
HP:0001251	HP:0001251	Ataxia	0	SLC35A1 CL E G H	10559	603585	Congenital disorder of glycosylation type 2F	603585	C1970344	OMIM	1	5	90	11021	605634
HP:0001251	HP:0001251	Ataxia	0	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	52	448	17129	607059
HP:0001251	HP:0001251	Ataxia	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	23	171	30521	611672
HP:0001251	HP:0001251	Ataxia	0	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	27	323	30224	607882
HP:0001251	HP:0001251	Ataxia	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	20	258	14025	608761
HP:0001251	HP:0001251	Ataxia	0	SLC6A1 CL E G H	6529	1942				ORPHA	1	43	457	11042	137165
HP:0001251	HP:0001251	Ataxia	0	SLC6A19 CL E G H	340024	2116	Encephalopathy-basal ganglia-calcification			ORPHA	1	25	249	27960	608893
HP:0001251	HP:0001251	Ataxia	0	SLC6A5 CL E G H	9152	3197	Lateral body wall defect			ORPHA	1	33	213	11051	604159
HP:0001251	HP:0001251	Ataxia	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	139	700	11055	300036
HP:0001251	HP:0001251	Ataxia	0	SMARCB1 CL E G H	6598	99966				ORPHA	1	119	637	11103	601607
HP:0001251	HP:0001251	Ataxia	0	SNAP25 CL E G H	6616	98914				ORPHA	1	7	123	11132	600322
HP:0001251	HP:0001251	Ataxia	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	7	123	11132	600322
HP:0001251	HP:0001251	Ataxia	0	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0001251	HP:0001251	Ataxia	0	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	40	67	32952	616663
HP:0001251	HP:0001251	Ataxia	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	19	140	14977	616105
HP:0001251	HP:0001251	Ataxia	0	SOX10 CL E G H	6663	163746				ORPHA	1	151	236	11190	602229
HP:0001251	HP:0001251	Ataxia	0	SPG11 CL E G H	80208	2822	Hyperinsulinism, focal			ORPHA	1	293	1479	11226	610844
HP:0001251	HP:0001251	Ataxia	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	1479	11226	610844
HP:0001251	HP:0001251	Ataxia	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	25	124	11257	182125
HP:0001251	HP:0001251	Ataxia	0	ST3GAL5 CL E G H	8869	370938				ORPHA	1	7	241	10872	604402
HP:0001251	HP:0001251	Ataxia	0	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	3	42	26200	613128
HP:0001251	HP:0001251	Ataxia	0	STXBP1 CL E G H	6812	33069				ORPHA	1	195	706	11444	602926
HP:0001251	HP:0001251	Ataxia	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	29	237	11448	603921
HP:0001251	HP:0001251	Ataxia	0	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	28	159	11449	611224
HP:0001251	HP:0001251	Ataxia	0	SUFU CL E G H	51684	617757	JOUBERT SYNDROME 32	617757	C4540342	OMIM	1	47	697	16466	607035
HP:0001251	HP:0001251	Ataxia	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	55	382	20376	607939
HP:0001251	HP:0001251	Ataxia	0	SUOX CL E G H	6821	272300	Sulfite oxidase deficiency	272300	C0268624	OMIM	1	29	155	11460	606887
HP:0001251	HP:0001251	Ataxia	0	SURF1 CL E G H	6834	616684	Charcot-Marie-Tooth disease, type 4k	616684	C4225246	OMIM	1	128	238	11474	185620
HP:0001251	HP:0001251	Ataxia	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	128	238	11474	185620
HP:0001251	HP:0001251	Ataxia	0	SYNE1 CL E G H	23345	88644				ORPHA	1	144	3593	17089	608441
HP:0001251	HP:0001251	Ataxia	0	SYT1 CL E G H	6857	618218	BAKER-GORDON SYNDROME	618218		OMIM	1	9	35	11509	185605
HP:0001251	HP:0001251	Ataxia	0	SYT2 CL E G H	127833	98914				ORPHA	1	3	75	11510	600104
HP:0001251	HP:0001251	Ataxia	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	70	24316	612958
HP:0001251	HP:0001251	Ataxia	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	9	472	25439	616830
HP:0001251	HP:0001251	Ataxia	0	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	8	260	11582	604934
HP:0001251	HP:0001251	Ataxia	0	TBP CL E G H	6908	98759				ORPHA	1	18	102	11588	600075
HP:0001251	HP:0001251	Ataxia	0	TCN2 CL E G H	6948	275350	Transcobalamin II deficiency	275350	C0342701	OMIM	1	41	293	11653	613441
HP:0001251	HP:0001251	Ataxia	0	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	1	6	160	26113	609863
HP:0001251	HP:0001251	Ataxia	0	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	1	15	268	25774	613846
HP:0001251	HP:0001251	Ataxia	0	TCTN3 CL E G H	26123	2754				ORPHA	1	12	142	24519	613847
HP:0001251	HP:0001251	Ataxia	0	TDP1 CL E G H	55775	94124				ORPHA	1	3	186	18884	607198
HP:0001251	HP:0001251	Ataxia	0	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	3	186	18884	607198
HP:0001251	HP:0001251	Ataxia	0	TDP2 CL E G H	51567	404493				ORPHA	1	6	31	17768	605764
HP:0001251	HP:0001251	Ataxia	0	TDP2 CL E G H	51567	616949	Spinocerebellar ataxia, autosomal recessive 23	616949	C4310780	OMIM	1	6	31	17768	605764
HP:0001251	HP:0001251	Ataxia	0	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	8	140	29099	611140
HP:0001251	HP:0001251	Ataxia	0	TERC CL E G H	7012	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	74	227	11727	602322
HP:0001251	HP:0001251	Ataxia	0	TERT CL E G H	7015	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	173	1597	11730	187270
HP:0001251	HP:0001251	Ataxia	0	TINF2 CL E G H	26277	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	42	229	11824	604319
HP:0001251	HP:0001251	Ataxia	0	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	42	229	11824	604319
HP:0001251	HP:0001251	Ataxia	0	TINF2 CL E G H	26277	268130	Revesz syndrome	268130	C1327916	OMIM	1	42	229	11824	604319
HP:0001251	HP:0001251	Ataxia	0	TMEM107 CL E G H	84314	617562	Meckel syndrome 13	617562	C4539714	OMIM	1	3	100	28128	616183
HP:0001251	HP:0001251	Ataxia	0	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	3	100	28128	616183
HP:0001251	HP:0001251	Ataxia	0	TMEM138 CL E G H	51524	2318				ORPHA	1	9	85	26944	614459
HP:0001251	HP:0001251	Ataxia	0	TMEM216 CL E G H	51259	2318				ORPHA	1	8	151	25018	613277
HP:0001251	HP:0001251	Ataxia	0	TMEM216 CL E G H	51259	2754				ORPHA	1	8	151	25018	613277
HP:0001251	HP:0001251	Ataxia	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	8	151	25018	613277
HP:0001251	HP:0001251	Ataxia	0	TMEM231 CL E G H	79583	2318				ORPHA	1	19	202	37234	614949
HP:0001251	HP:0001251	Ataxia	0	TMEM237 CL E G H	65062	220497				ORPHA	1	11	297	14432	614423
HP:0001251	HP:0001251	Ataxia	0	TMEM237 CL E G H	65062	2318				ORPHA	1	11	297	14432	614423
HP:0001251	HP:0001251	Ataxia	0	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	1	11	297	14432	614423
HP:0001251	HP:0001251	Ataxia	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	11	297	14432	614423
HP:0001251	HP:0001251	Ataxia	0	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	1	174	393	28396	609884
HP:0001251	HP:0001251	Ataxia	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	393	28396	609884
HP:0001251	HP:0001251	Ataxia	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	393	28396	609884
HP:0001251	HP:0001251	Ataxia	0	TMEM67 CL E G H	91147	610688	Joubert syndrome 6	610688	C1853153	OMIM	1	174	393	28396	609884
HP:0001251	HP:0001251	Ataxia	0	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	18	176	26050	612418
HP:0001251	HP:0001251	Ataxia	0	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	12	219	17358	606370
HP:0001251	HP:0001251	Ataxia	0	TPP1 CL E G H	1200	204500	Ceroid lipofuscinosis neuronal 2	204500	C1876161	OMIM	1	115	638	2073	607998
HP:0001251	HP:0001251	Ataxia	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	115	638	2073	607998
HP:0001251	HP:0001251	Ataxia	0	TPRKB CL E G H	51002	617731	GALLOWAY-MOWAT SYNDROME 5	617731	C4540274	OMIM	1	2	17	24259	608680
HP:0001251	HP:0001251	Ataxia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	17	559	25751	614138
HP:0001251	HP:0001251	Ataxia	0	TRAPPC6B CL E G H	122553	617862	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY	617862	CN787271	OMIM	1	3	39	23066	610397
HP:0001251	HP:0001251	Ataxia	0	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	2	35	12335	602345
HP:0001251	HP:0001251	Ataxia	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	7	180	12367	604723
HP:0001251	HP:0001251	Ataxia	0	TTPA CL E G H	7274	277460	Ataxia with vitamin E deficiency	277460	C1848533	OMIM	1	30	216	12404	600415
HP:0001251	HP:0001251	Ataxia	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	151	280	12405	176300
HP:0001251	HP:0001251	Ataxia	0	TUBA1A CL E G H	7846	611603	Lissencephaly 3	611603	C1969029	OMIM	1	68	225	20766	602529
HP:0001251	HP:0001251	Ataxia	0	TUBB CL E G H	203068	615771	Cortical dysplasia, complex, with other brain malformations 6	615771	C4014283	OMIM	1	8	65	20778	191130
HP:0001251	HP:0001251	Ataxia	0	TUBB2B CL E G H	347733	1766				ORPHA	1	30	136	30829	612850
HP:0001251	HP:0001251	Ataxia	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	42	163	20774	602662
HP:0001251	HP:0001251	Ataxia	0	TWNK CL E G H	56652	1186				ORPHA	1	83	215	1160	606075
HP:0001251	HP:0001251	Ataxia	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	83	215	1160	606075
HP:0001251	HP:0001251	Ataxia	0	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	83	215	1160	606075
HP:0001251	HP:0001251	Ataxia	0	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	1	88	29594	612080
HP:0001251	HP:0001251	Ataxia	0	UROC1 CL E G H	131669	276880	Urocanate hydratase deficiency	276880	C0268514	OMIM	1	3	73	26444	613012
HP:0001251	HP:0001251	Ataxia	0	USH1C CL E G H	10083	231169				ORPHA	1	51	726	12597	605242
HP:0001251	HP:0001251	Ataxia	0	USH1G CL E G H	124590	231169				ORPHA	1	32	242	16356	607696
HP:0001251	HP:0001251	Ataxia	0	VAMP1 CL E G H	6843	98914				ORPHA	1	6	82	12642	185880
HP:0001251	HP:0001251	Ataxia	0	VHL CL E G H	7428	892	Billet Bear syndrome			ORPHA	1	617	1349	12687	608537
HP:0001251	HP:0001251	Ataxia	0	VLDLR CL E G H	7436	1766				ORPHA	1	28	451	12698	192977
HP:0001251	HP:0001251	Ataxia	0	VPS13A CL E G H	23230	2388				ORPHA	1	116	1230	1908	605978
HP:0001251	HP:0001251	Ataxia	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	19	165	23595	608877
HP:0001251	HP:0001251	Ataxia	0	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	10	276	12718	602168
HP:0001251	HP:0001251	Ataxia	0	WDR73 CL E G H	84942	83472				ORPHA	1	12	125	25928	616144
HP:0001251	HP:0001251	Ataxia	0	WDR81 CL E G H	124997	1766				ORPHA	1	17	240	26600	614218
HP:0001251	HP:0001251	Ataxia	0	WFS1 CL E G H	7466	3463				ORPHA	1	393	857	12762	606201
HP:0001251	HP:0001251	Ataxia	0	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	393	857	12762	606201
HP:0001251	HP:0001251	Ataxia	0	XPA CL E G H	7507	278700	Xeroderma pigmentosum, type 1	278700	C0268135	OMIM	1	51	214	12814	611153
HP:0001251	HP:0001251	Ataxia	0	YWHAG CL E G H	7532	617665	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56	617665	C4540034	OMIM	1	5	56	12852	605356
HP:0001251	HP:0001251	Ataxia	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	1251	20761	612012
HP:0001251	HP:0001251	Ataxia	0	ZNF423 CL E G H	23090	2318				ORPHA	1	9	419	16762	604557
HP:0001251	HP:0001251	Ataxia	0	ZNF592 CL E G H	9640	83472				ORPHA	1	1	68	28986	613624
HP:0001251	HP:0001251	Ataxia	1	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	79	117	13666	605378
HP:0001251	HP:0001251	Ataxia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	31	320	21022	612035
HP:0001251	HP:0001251	Ataxia	1	ABCB7 CL E G H	22	2802				ORPHA	1	9	243	48	300135
HP:0001251	HP:0001251	Ataxia	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	661	1108	59	600509
HP:0001251	HP:0001251	Ataxia	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	21	311	15868	613599
HP:0001251	HP:0001251	Ataxia	1	ABHD5 CL E G H	51099	98907				ORPHA	1	39	172	21396	604780
HP:0001251	HP:0001251	Ataxia	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	39	172	21396	604780
HP:0001251	HP:0001251	Ataxia	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	19	279	118	100850
HP:0001251	HP:0001251	Ataxia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	55	309	1839	607575
HP:0001251	HP:0001251	Ataxia	1	AGRN CL E G H	375790	98914				ORPHA	1	18	1303	329	103320
HP:0001251	HP:0001251	Ataxia	1	AHI1 CL E G H	54806	220493				ORPHA	1	96	634	21575	608894
HP:0001251	HP:0001251	Ataxia	1	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	96	634	21575	608894
HP:0001251	HP:0001251	Ataxia	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	634	21575	608894
HP:0001251	HP:0001251	Ataxia	1	AKT1 CL E G H	207	201				ORPHA	1	12	379	391	164730
HP:0001251	HP:0001251	Ataxia	1	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	75	465	408	610045
HP:0001251	HP:0001251	Ataxia	1	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0001251	HP:0001251	Ataxia	1	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1	26	306	23157	604566
HP:0001251	HP:0001251	Ataxia	1	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	191	389	6211	300836
HP:0001251	HP:0001251	Ataxia	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	16	699	22197	613653
HP:0001251	HP:0001251	Ataxia	1	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1	333	2315	603	107730
HP:0001251	HP:0001251	Ataxia	1	APOPT1 CL E G H	84334	436271				ORPHA	1		121	20492	616003
HP:0001251	HP:0001251	Ataxia	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		121	20492	616003
HP:0001251	HP:0001251	Ataxia	1	APTX CL E G H	54840	1168				ORPHA	1	46	230	15984	606350
HP:0001251	HP:0001251	Ataxia	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	46	230	15984	606350
HP:0001251	HP:0001251	Ataxia	1	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	10	183	25419	608922
HP:0001251	HP:0001251	Ataxia	1	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	10	183	25419	608922
HP:0001251	HP:0001251	Ataxia	1	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	3	63	694	604695
HP:0001251	HP:0001251	Ataxia	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	3	63	694	604695
HP:0001251	HP:0001251	Ataxia	1	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	11	250	20730	617612
HP:0001251	HP:0001251	Ataxia	1	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	723	713	607574
HP:0001251	HP:0001251	Ataxia	1	ARSG CL E G H	22901	231183				ORPHA	1	3	174	24102	610008
HP:0001251	HP:0001251	Ataxia	1	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	3	61	29561	611647
HP:0001251	HP:0001251	Ataxia	1	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	169	418	746	608310
HP:0001251	HP:0001251	Ataxia	1	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	169	418	746	608310
HP:0001251	HP:0001251	Ataxia	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	157	472	758	603470
HP:0001251	HP:0001251	Ataxia	1	ATAD1 CL E G H	84896	3197	Lateral body wall defect			ORPHA	1	3	27	25903	614452
HP:0001251	HP:0001251	Ataxia	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	234	25567	612316
HP:0001251	HP:0001251	Ataxia	1	ATM CL E G H	472	100				ORPHA	1	1324	10266	795	607585
HP:0001251	HP:0001251	Ataxia	1	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	1324	10266	795	607585
HP:0001251	HP:0001251	Ataxia	1	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	44	479	30213	610513
HP:0001251	HP:0001251	Ataxia	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	44	479	30213	610513
HP:0001251	HP:0001251	Ataxia	1	ATP1A2 CL E G H	477	569				ORPHA	1	99	706	800	182340
HP:0001251	HP:0001251	Ataxia	1	ATP1A3 CL E G H	478	1171				ORPHA	1	122	597	801	182350
HP:0001251	HP:0001251	Ataxia	1	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	122	597	801	182350
HP:0001251	HP:0001251	Ataxia	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	7	291	816	300014
HP:0001251	HP:0001251	Ataxia	1	ATP8A2 CL E G H	51761	1766				ORPHA	1	11	119	13533	605870
HP:0001251	HP:0001251	Ataxia	1	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	2	209	18802	608918
HP:0001251	HP:0001251	Ataxia	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	12	143	890	600529
HP:0001251	HP:0001251	Ataxia	1	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	10	195	24123	614144
HP:0001251	HP:0001251	Ataxia	1	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	10	195	24123	614144
HP:0001251	HP:0001251	Ataxia	1	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	489	966	209901
HP:0001251	HP:0001251	Ataxia	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	101	379	986	608348
HP:0001251	HP:0001251	Ataxia	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	115	447	987	248611
HP:0001251	HP:0001251	Ataxia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	246	1020	603647
HP:0001251	HP:0001251	Ataxia	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	37	246	1020	603647
HP:0001251	HP:0001251	Ataxia	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	2	35	24160	612051
HP:0001251	HP:0001251	Ataxia	1	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	50	321	15832	606158
HP:0001251	HP:0001251	Ataxia	1	BTD CL E G H	686	79241				ORPHA	1	248	450	1122	609019
HP:0001251	HP:0001251	Ataxia	1	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	450	1122	609019
HP:0001251	HP:0001251	Ataxia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11		26784	613541
HP:0001251	HP:0001251	Ataxia	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	38	238	25443	614297
HP:0001251	HP:0001251	Ataxia	1	C9orf72 CL E G H	203228	401901				ORPHA	1	24	160	28337	614260
HP:0001251	HP:0001251	Ataxia	1	CA8 CL E G H	767	1766				ORPHA	1	4	77	1382	114815
HP:0001251	HP:0001251	Ataxia	1	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1	4	77	1382	114815
HP:0001251	HP:0001251	Ataxia	1	CACNA1A CL E G H	773	71518				ORPHA	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	1	CACNA1A CL E G H	773	569				ORPHA	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	1	CACNA1A CL E G H	773	97				ORPHA	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	1	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	251	1963	1388	601011
HP:0001251	HP:0001251	Ataxia	1	CC2D2A CL E G H	57545	2318				ORPHA	1	96	865	29253	612013
HP:0001251	HP:0001251	Ataxia	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	865	29253	612013
HP:0001251	HP:0001251	Ataxia	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	865	29253	612013
HP:0001251	HP:0001251	Ataxia	1	CDH23 CL E G H	64072	231169				ORPHA	1	361	2572	13733	605516
HP:0001251	HP:0001251	Ataxia	1	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	7	343	24866	616690
HP:0001251	HP:0001251	Ataxia	1	CEP120 CL E G H	153241	220493				ORPHA	1	9	200	26690	613446
HP:0001251	HP:0001251	Ataxia	1	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	9	200	26690	613446
HP:0001251	HP:0001251	Ataxia	1	CEP290 CL E G H	80184	2318				ORPHA	1	310	1517	29021	610142
HP:0001251	HP:0001251	Ataxia	1	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	310	1517	29021	610142
HP:0001251	HP:0001251	Ataxia	1	CEP41 CL E G H	95681	220493				ORPHA	1	11	297	12370	610523
HP:0001251	HP:0001251	Ataxia	1	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	11	297	12370	610523
HP:0001251	HP:0001251	Ataxia	1	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	11	297	12370	610523
HP:0001251	HP:0001251	Ataxia	1	CEP78 CL E G H	84131	231183				ORPHA	1	10	282	25740	617110
HP:0001251	HP:0001251	Ataxia	1	CHAT CL E G H	1103	98914				ORPHA	1	77	500	1912	118490
HP:0001251	HP:0001251	Ataxia	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	27	202	15559	615903
HP:0001251	HP:0001251	Ataxia	1	CHD2 CL E G H	1106	1942				ORPHA	1	60	1126	1917	602119
HP:0001251	HP:0001251	Ataxia	1	CIB2 CL E G H	10518	231169				ORPHA	1	18	137	24579	605564
HP:0001251	HP:0001251	Ataxia	1	CISD2 CL E G H	493856	3463				ORPHA	1	4	26	24212	611507
HP:0001251	HP:0001251	Ataxia	1	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	52	443	2076	608102
HP:0001251	HP:0001251	Ataxia	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	85	458	2077	606725
HP:0001251	HP:0001251	Ataxia	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	44	428	2079	607837
HP:0001251	HP:0001251	Ataxia	1	CLRN1 CL E G H	7401	231183				ORPHA	1	39	239	12605	606397
HP:0001251	HP:0001251	Ataxia	1	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	14	90	2092	118955
HP:0001251	HP:0001251	Ataxia	1	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	78	1300	13830	604569
HP:0001251	HP:0001251	Ataxia	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	7	27	25716	615623
HP:0001251	HP:0001251	Ataxia	1	COG4 CL E G H	25839	263501				ORPHA	1	6	209	18620	606976
HP:0001251	HP:0001251	Ataxia	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	6	209	18620	606976
HP:0001251	HP:0001251	Ataxia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	3	175	2190	120350
HP:0001251	HP:0001251	Ataxia	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	36	751	2195	120328
HP:0001251	HP:0001251	Ataxia	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	33	134	25223	609825
HP:0001251	HP:0001251	Ataxia	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	43	363	16812	606980
HP:0001251	HP:0001251	Ataxia	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	13	245	2260	602125
HP:0001251	HP:0001251	Ataxia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	245	2260	602125
HP:0001251	HP:0001251	Ataxia	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	19	28216	614478
HP:0001251	HP:0001251	Ataxia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	215	2263	603646
HP:0001251	HP:0001251	Ataxia	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	137	26970	614698
HP:0001251	HP:0001251	Ataxia	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	42	2280	124089
HP:0001251	HP:0001251	Ataxia	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	16	2294	123870
HP:0001251	HP:0001251	Ataxia	1	CP CL E G H	1356	48818				ORPHA	1	60	465	2295	117700
HP:0001251	HP:0001251	Ataxia	1	CPLANE1 CL E G H	65250	2754				ORPHA	1	118	806	25801	614571
HP:0001251	HP:0001251	Ataxia	1	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	118	806	25801	614571
HP:0001251	HP:0001251	Ataxia	1	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	118	806	25801	614571
HP:0001251	HP:0001251	Ataxia	1	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	276	807	2323	608307
HP:0001251	HP:0001251	Ataxia	1	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	27	457	26193	611654
HP:0001251	HP:0001251	Ataxia	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	457	26193	611654
HP:0001251	HP:0001251	Ataxia	1	CSTB CL E G H	1476	254800	Unverricht-Lundborg syndrome	254800	C0751785	OMIM	1	15	221	2482	601145
HP:0001251	HP:0001251	Ataxia	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	34	722	26169	613129
HP:0001251	HP:0001251	Ataxia	1	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	322	2498	604927
HP:0001251	HP:0001251	Ataxia	1	CTNNA2 CL E G H	1496	618174	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174		OMIM	1	6	85	2510	114025
HP:0001251	HP:0001251	Ataxia	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	410	2529	116840
HP:0001251	HP:0001251	Ataxia	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	11	119	2531	603539
HP:0001251	HP:0001251	Ataxia	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	116	439	2605	606530
HP:0001251	HP:0001251	Ataxia	1	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	2	78	2661	603448
HP:0001251	HP:0001251	Ataxia	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	65	220	25538	610956
HP:0001251	HP:0001251	Ataxia	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	78	465	2698	248610
HP:0001251	HP:0001251	Ataxia	1	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	142	352	2714	300121
HP:0001251	HP:0001251	Ataxia	1	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	9	275	2861	126060
HP:0001251	HP:0001251	Ataxia	1	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	6	37	16716	616423
HP:0001251	HP:0001251	Ataxia	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	162	2896	608770
HP:0001251	HP:0001251	Ataxia	1	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	23	327	2898	238331
HP:0001251	HP:0001251	Ataxia	1	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	9	157	2938	612186
HP:0001251	HP:0001251	Ataxia	1	DNAJC19 CL E G H	131118	66634				ORPHA	1	6	75	30528	608977
HP:0001251	HP:0001251	Ataxia	1	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	2	333	16235	611203
HP:0001251	HP:0001251	Ataxia	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	23	731	2976	126375
HP:0001251	HP:0001251	Ataxia	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	9	155	3005	603503
HP:0001251	HP:0001251	Ataxia	1	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	70	218	3180	131244
HP:0001251	HP:0001251	Ataxia	1	ELP1 CL E G H	8518	1764				ORPHA	1	6	1051	5959	603722
HP:0001251	HP:0001251	Ataxia	1	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1	6		3418	138295
HP:0001251	HP:0001251	Ataxia	1	ERCC2 CL E G H	2068	220295				ORPHA	1	108	319	3434	126340
HP:0001251	HP:0001251	Ataxia	1	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	319	3434	126340
HP:0001251	HP:0001251	Ataxia	1	ERCC3 CL E G H	2071	220295				ORPHA	1	20	171	3435	133510
HP:0001251	HP:0001251	Ataxia	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	20	171	3435	133510
HP:0001251	HP:0001251	Ataxia	1	ERCC4 CL E G H	2072	220295				ORPHA	1	72	450	3436	133520
HP:0001251	HP:0001251	Ataxia	1	ERCC5 CL E G H	2073	220295				ORPHA	1	59	336	3437	133530
HP:0001251	HP:0001251	Ataxia	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	140	815	3438	609413
HP:0001251	HP:0001251	Ataxia	1	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	815	3438	609413
HP:0001251	HP:0001251	Ataxia	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	70	309	3439	609412
HP:0001251	HP:0001251	Ataxia	1	ETHE1 CL E G H	23474	51188				ORPHA	1	37	203	23287	608451
HP:0001251	HP:0001251	Ataxia	1	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	37	203	23287	608451
HP:0001251	HP:0001251	Ataxia	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	267	29160	612322
HP:0001251	HP:0001251	Ataxia	1	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	17	324	24682	609144
HP:0001251	HP:0001251	Ataxia	1	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	57	25491	616305
HP:0001251	HP:0001251	Ataxia	1	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	6	295	29007	300838
HP:0001251	HP:0001251	Ataxia	1	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	64	103	3999	134790
HP:0001251	HP:0001251	Ataxia	1	GABRA1 CL E G H	2554	33069				ORPHA	1	48	409	4075	137160
HP:0001251	HP:0001251	Ataxia	1	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	5	49	4081	137190
HP:0001251	HP:0001251	Ataxia	1	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	16	310	4082	600232
HP:0001251	HP:0001251	Ataxia	1	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	67	632	4083	137192
HP:0001251	HP:0001251	Ataxia	1	GABRG2 CL E G H	2566	33069				ORPHA	1	47	410	4087	137164
HP:0001251	HP:0001251	Ataxia	1	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	60	379	4136	601240
HP:0001251	HP:0001251	Ataxia	1	GBA CL E G H	2629	77261				ORPHA	1	494	245	4177	606463
HP:0001251	HP:0001251	Ataxia	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	494	245	4177	606463
HP:0001251	HP:0001251	Ataxia	1	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	135	272	4235	137780
HP:0001251	HP:0001251	Ataxia	1	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	162	4274	121014
HP:0001251	HP:0001251	Ataxia	1	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	109	162	4274	121014
HP:0001251	HP:0001251	Ataxia	1	GJC2 CL E G H	57165	320401				ORPHA	1	57	167	17494	608803
HP:0001251	HP:0001251	Ataxia	1	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	57	167	17494	608803
HP:0001251	HP:0001251	Ataxia	1	GLB1 CL E G H	2720	230600	GM1 gangliosidosis type 2	230600	C0268272	OMIM	1	231	502	4298	611458
HP:0001251	HP:0001251	Ataxia	1	GLRA1 CL E G H	2741	3197	Lateral body wall defect			ORPHA	1	72	294	4326	138491
HP:0001251	HP:0001251	Ataxia	1	GLRB CL E G H	2743	3197	Lateral body wall defect			ORPHA	1	19	156	4329	138492
HP:0001251	HP:0001251	Ataxia	1	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	49	197	22932	615320
HP:0001251	HP:0001251	Ataxia	1	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	5	210	4431	604027
HP:0001251	HP:0001251	Ataxia	1	GPHN CL E G H	10243	3197	Lateral body wall defect			ORPHA	1	20	261	15465	603930
HP:0001251	HP:0001251	Ataxia	1	GPI CL E G H	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	613470	C3150730	OMIM	1	42	67	4458	172400
HP:0001251	HP:0001251	Ataxia	1	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	231	295	4601	138945
HP:0001251	HP:0001251	Ataxia	1	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	40	122	4624	601002
HP:0001251	HP:0001251	Ataxia	1	HACE1 CL E G H	57531	464282				ORPHA	1	13	73	21033	610876
HP:0001251	HP:0001251	Ataxia	1	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	13	73	21033	610876
HP:0001251	HP:0001251	Ataxia	1	HARS CL E G H	3035	231183				ORPHA	1	13		4816	142810
HP:0001251	HP:0001251	Ataxia	1	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	28	201	26361	611642
HP:0001251	HP:0001251	Ataxia	1	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	28	201	26361	611642
HP:0001251	HP:0001251	Ataxia	1	HEXB CL E G H	3074	268800	Sandhoff disease	268800	C0036161	OMIM	1	126	357	4879	606873
HP:0001251	HP:0001251	Ataxia	1	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	4	184	5042	300610
HP:0001251	HP:0001251	Ataxia	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	54	162	9476	602194
HP:0001251	HP:0001251	Ataxia	1	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	2	171	26558	610693
HP:0001251	HP:0001251	Ataxia	1	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	72	837	29077	614620
HP:0001251	HP:0001251	Ataxia	1	INPP5E CL E G H	56623	220493				ORPHA	1	54	461	21474	613037
HP:0001251	HP:0001251	Ataxia	1	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	54	461	21474	613037