Human Phenotype Ontology

About
GBrowse
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MT.AT
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- Exome Priori. Result
- HBCR Exome
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
- pdf2table
Phenome
Collaboration
- Genesis (GEM.App)
- LeighMap
- Collaboration Zone
Submission
MSeqDR PhenoTips
- MSeqDR_PhenoTips (Direct_Link)

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the metencephalon (HP:0011283)

Parent Node:
Abnormality of coordination (HP:0011443)

Parent Node:
Abnormality of the cerebellum (HP:0001317)

..Starting node
..Ataxia (HP:0001251)

Term ID:

1251

Name:

Ataxia

Synonym:

Cerebellar ataxia

Definition:

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Comments:

Reference:

HP:0001251

Genes and Diseases:

HPO-Disease-Gene Association for HP:0001251 and all of its descedant HPO terms

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	ConceptID	Source	HGMD variants	ClinVar variants
HP:0001251	HP:0001251	Ataxia	0	AAAS	8086	231550	Glucocorticoid deficiency with achalasia	C0271742	OMIM	75	57
HP:0001251	HP:0001251	Ataxia	0	AARS2	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	C4014588	OMIM	26	143
HP:0001251	HP:0001251	Ataxia	0	ABCC8	6833	240800	Leucine-induced hypoglycemia	C0271714	OMIM	612	245
HP:0001251	HP:0001251	Ataxia	0	ABHD5	51099	275630	Triglyceride storage disease with ichthyosis	C0268238	OMIM	36	90
HP:0001251	HP:0001251	Ataxia	0	ACO2	50	614559	Infantile cerebellar-retinal degeneration	C3281192	OMIM	12	60
HP:0001251	HP:0001251	Ataxia	0	ADA2	51816	615688	Polyarteritis nodosa	C0031036	OMIM	31	22
HP:0001251	HP:0001251	Ataxia	0	AHI1	54806	475	Acquired hypoprothrombinemia		ORPHA	84	175
HP:0001251	HP:0001251	Ataxia	0	AHI1	54806	608629	Joubert syndrome 3	C1837713	OMIM	84	175
HP:0001251	HP:0001251	Ataxia	0	AHI1	54806	220493	Joubert syndrome with ocular defect		ORPHA	84	175
HP:0001251	HP:0001251	Ataxia	0	AKT1	207	201	Cowden syndrome		ORPHA	9	54
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1	7915	22	22q13.3 deletion syndrome	C1853490	ORPHA	71	108
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	C0268631	OMIM	71	108
HP:0001251	HP:0001251	Ataxia	0	ALG6	29929	603147	Congenital disorder of glycosylation type 1C	C1864178	OMIM	26	66
HP:0001251	HP:0001251	Ataxia	0	ANOS1	3730	308700	Kallmann syndrome 1	C1563719	OMIM	177	65
HP:0001251	HP:0001251	Ataxia	0	APOB	338	615558	Hypobetalipoproteinemia, familial, 1	CN182502	OMIM	272	356
HP:0001251	HP:0001251	Ataxia	0	APOPT1	84334	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	5	17
HP:0001251	HP:0001251	Ataxia	0	APTX	54840	208920	Adult onset ataxia with oculomotor apraxia	C1859598	OMIM	40	61
HP:0001251	HP:0001251	Ataxia	0	APTX	54840	1168	Ataxia-oculomotor apraxia type 1		ORPHA	40	61
HP:0001251	HP:0001251	Ataxia	0	ARL13B	200894	475	Acquired hypoprothrombinemia		ORPHA	9	62
HP:0001251	HP:0001251	Ataxia	0	ARSA	410	250100	Metachromatic leukodystrophy	C0023522	OMIM	217	253
HP:0001251	HP:0001251	Ataxia	0	ASL	435	207900	Argininosuccinate lyase deficiency	C0268547	OMIM	151	81
HP:0001251	HP:0001251	Ataxia	0	ASL	435	23	Blepharophimosis syndrome type 1	C2931135	ORPHA	151	81
HP:0001251	HP:0001251	Ataxia	0	ASS1	445	215700	Citrullinemia type I	C0175683	OMIM	153	119
HP:0001251	HP:0001251	Ataxia	0	ATM	472	100	Ataxia-telangiectasia		ORPHA	902	3267
HP:0001251	HP:0001251	Ataxia	0	ATM	472	208900	Ataxia-telangiectasia syndrome	C0004135	OMIM	902	3267
HP:0001251	HP:0001251	Ataxia	0	ATP1A2	477	569	Familial or sporadic hemiplegic migraine		ORPHA	85	239
HP:0001251	HP:0001251	Ataxia	0	ATP1A3	478	614820	Alternating hemiplegia of childhood 2	C3553788	OMIM	100	150
HP:0001251	HP:0001251	Ataxia	0	ATP6	4508	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	ATP6	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	C1838914	OMIM
HP:0001251	HP:0001251	Ataxia	0	ATP8	4509	480	Acrorenal mandibular syndrome	C1860166	ORPHA
HP:0001251	HP:0001251	Ataxia	0	ATP8A2	51761	1766	Dysequilibrium syndrome		ORPHA	6	24
HP:0001251	HP:0001251	Ataxia	0	ATPAF2	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	C2700431	OMIM	1	32
HP:0001251	HP:0001251	Ataxia	0	AUH	549	250950	3-Methylglutaconic aciduria	C0342727	OMIM	11	49
HP:0001251	HP:0001251	Ataxia	0	B9D1	27077	475	Acquired hypoprothrombinemia		ORPHA	9	28
HP:0001251	HP:0001251	Ataxia	0	BBS1	582	209900	Bardet-Biedl syndrome	C0752166	OMIM	99	114
HP:0001251	HP:0001251	Ataxia	0	BBS4	585	209900	Bardet-Biedl syndrome	C0752166	OMIM	50	87
HP:0001251	HP:0001251	Ataxia	0	BCKDHA	593	248600	Maple syrup urine disease	C0024776	OMIM	91	120
HP:0001251	HP:0001251	Ataxia	0	BCKDHB	594	248600	Maple syrup urine disease	C0024776	OMIM	94	162
HP:0001251	HP:0001251	Ataxia	0	BCS1L	617	256000	Leigh syndrome	C0023264	OMIM	37	72
HP:0001251	HP:0001251	Ataxia	0	BCS1L	617	124000	Mitochondrial complex III deficiency	C1852372	OMIM	37	72
HP:0001251	HP:0001251	Ataxia	0	BEAN1	146227	117210	Spinocerebellar ataxia 31	C1861736	OMIM	2	1
HP:0001251	HP:0001251	Ataxia	0	BSCL2	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	C4014700	OMIM	45	105
HP:0001251	HP:0001251	Ataxia	0	BTD	686	79241	Biotinidase deficiency		ORPHA	233	223
HP:0001251	HP:0001251	Ataxia	0	BTD	686	253260	Biotinidase deficiency	C0220754	OMIM	233	223
HP:0001251	HP:0001251	Ataxia	0	C12ORF65	91574	1239	Behr syndrome		ORPHA	10	40
HP:0001251	HP:0001251	Ataxia	0	C12ORF65	91574	613559	Combined oxidative phosphorylation deficiency 7	C3150801	OMIM	10	40
HP:0001251	HP:0001251	Ataxia	0	C19ORF12	83636	614298	Neurodegeneration with brain iron accumulation 4	C3280371	OMIM	36	114
HP:0001251	HP:0001251	Ataxia	0	C5ORF42	65250	475	Acquired hypoprothrombinemia		ORPHA	97	237
HP:0001251	HP:0001251	Ataxia	0	C5ORF42	65250	614615	Joubert syndrome 17	C3553264	OMIM	97	237
HP:0001251	HP:0001251	Ataxia	0	CA8	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	C2750509	OMIM	4	8
HP:0001251	HP:0001251	Ataxia	0	CA8	767	1766	Dysequilibrium syndrome		ORPHA	4	8
HP:0001251	HP:0001251	Ataxia	0	CACNA1A	773	141500	Familial hemiplegic migraine type 1	C1832894	OMIM	189	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A	773	569	Familial or sporadic hemiplegic migraine		ORPHA	189	449
HP:0001251	HP:0001251	Ataxia	0	CC2D2A	57545	216360	COACH syndrome	C1857662	OMIM	83	247
HP:0001251	HP:0001251	Ataxia	0	CC2D2A	57545	1454	Common atrioventricular canal	C0221215	ORPHA	83	247
HP:0001251	HP:0001251	Ataxia	0	CC2D2A	57545	2318	Joubert syndrome with oculorenal defect		ORPHA	83	247
HP:0001251	HP:0001251	Ataxia	0	CDH23	64072	231169	Usher syndrome type 1		ORPHA	303	636
HP:0001251	HP:0001251	Ataxia	0	CEP104	9731	475	Acquired hypoprothrombinemia		ORPHA	4	5
HP:0001251	HP:0001251	Ataxia	0	CEP120	153241	475	Acquired hypoprothrombinemia		ORPHA	9	7
HP:0001251	HP:0001251	Ataxia	0	CEP120	153241	220493	Joubert syndrome with ocular defect		ORPHA	9	7
HP:0001251	HP:0001251	Ataxia	0	CEP290	80184	610188	Joubert syndrome 5	C1857780	OMIM	265	342
HP:0001251	HP:0001251	Ataxia	0	CEP290	80184	2318	Joubert syndrome with oculorenal defect		ORPHA	265	342
HP:0001251	HP:0001251	Ataxia	0	CEP41	95681	475	Acquired hypoprothrombinemia		ORPHA	10	90
HP:0001251	HP:0001251	Ataxia	0	CEP41	95681	614464	Joubert syndrome 15	C3280897	OMIM	10	90
HP:0001251	HP:0001251	Ataxia	0	CEP41	95681	220493	Joubert syndrome with ocular defect		ORPHA	10	90
HP:0001251	HP:0001251	Ataxia	0	CHCHD10	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	C4014648	OMIM	18	11
HP:0001251	HP:0001251	Ataxia	0	CHD2	1106	1942	Myoclonic-astastic epilepsy		ORPHA	39	227
HP:0001251	HP:0001251	Ataxia	0	CIB2	10518	231169	Usher syndrome type 1		ORPHA	15	15
HP:0001251	HP:0001251	Ataxia	0	CISD2	493856	3463	Wolfram syndrome		ORPHA	4	3
HP:0001251	HP:0001251	Ataxia	0	CLN6	54982	204300	Adult neuronal ceroid lipofuscinosis	C0022797	OMIM	80	143
HP:0001251	HP:0001251	Ataxia	0	CLN8	2055	600143	Ceroid lipofuscinosis neuronal 8	C1838570	OMIM	41	111
HP:0001251	HP:0001251	Ataxia	0	CLRN1	7401	231183	Usher syndrome type 3		ORPHA	33	60
HP:0001251	HP:0001251	Ataxia	0	COA5	493753	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	1	2
HP:0001251	HP:0001251	Ataxia	0	COG4	25839	613489	Congenital disorder of glycosylation type 2J	C3150736	OMIM	4	67
HP:0001251	HP:0001251	Ataxia	0	COL18A1	80781	267750	Knobloch syndrome 1	C1849409	OMIM	29	177
HP:0001251	HP:0001251	Ataxia	0	COQ2	27235	607426	Coenzyme Q10 deficiency, primary 1	C1843920	OMIM	29	54
HP:0001251	HP:0001251	Ataxia	0	COQ8A	56997	612016	Coenzyme Q10 deficiency, primary, 4	C2677589	OMIM	37	136
HP:0001251	HP:0001251	Ataxia	0	COX1	4512	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	COX10	1352	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	13	82
HP:0001251	HP:0001251	Ataxia	0	COX10	1352	256000	Leigh syndrome	C0023264	OMIM	13	82
HP:0001251	HP:0001251	Ataxia	0	COX14	84987	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	1	4
HP:0001251	HP:0001251	Ataxia	0	COX15	1355	256000	Leigh syndrome	C0023264	OMIM	5	104
HP:0001251	HP:0001251	Ataxia	0	COX2	4513	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	COX20	116228	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	1	25
HP:0001251	HP:0001251	Ataxia	0	COX3	4514	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	COX3	4514	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	COX6B1	1340	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	3	10
HP:0001251	HP:0001251	Ataxia	0	CP	1356	48818	Aceruloplasminemia		ORPHA	51	115
HP:0001251	HP:0001251	Ataxia	0	CP	1356	604290	Deficiency of ferroxidase	C0878682	OMIM	51	115
HP:0001251	HP:0001251	Ataxia	0	CPS1	1373	237300	Congenital hyperammonemia, type I	C0751753	OMIM	261	124
HP:0001251	HP:0001251	Ataxia	0	CSPP1	79848	475	Acquired hypoprothrombinemia		ORPHA	25	57
HP:0001251	HP:0001251	Ataxia	0	CSPP1	79848	615636	Joubert syndrome 21	C3810212	OMIM	25	57
HP:0001251	HP:0001251	Ataxia	0	CSTB	1476	254800	Unverricht-Lundborg syndrome	C0751785	OMIM	14	51
HP:0001251	HP:0001251	Ataxia	0	CTC1	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts	C2677299	OMIM	29	160
HP:0001251	HP:0001251	Ataxia	0	CTDP1	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	C1858726	OMIM	1	17
HP:0001251	HP:0001251	Ataxia	0	CTSD	1509	610127	Ceroid lipofuscinosis neuronal 10	C1864669	OMIM	15	159
HP:0001251	HP:0001251	Ataxia	0	CTSF	8722	615362	Ceroid lipofuscinosis, neuronal, 13	C3715049	OMIM	9	20
HP:0001251	HP:0001251	Ataxia	0	CYP27A1	1593	213700	Cholestanol storage disease	C0238052	OMIM	103	114
HP:0001251	HP:0001251	Ataxia	0	CYTB	4519	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	DARS2	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	C1970180	OMIM	59	60
HP:0001251	HP:0001251	Ataxia	0	DBT	1629	248600	Maple syrup urine disease	C0024776	OMIM	71	156
HP:0001251	HP:0001251	Ataxia	0	DCX	1641	300067	Lissencephaly, X-linked	C1848199	OMIM	138	145
HP:0001251	HP:0001251	Ataxia	0	DHFR	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	C3151205	OMIM	6	7
HP:0001251	HP:0001251	Ataxia	0	DLAT	1737	245348	Pyruvate dehydrogenase E2 deficiency	C1855565	OMIM	4	82
HP:0001251	HP:0001251	Ataxia	0	DLD	1738	246900	Maple syrup urine disease, type 3	CN043137	OMIM	22	89
HP:0001251	HP:0001251	Ataxia	0	DMXL2	23312	616113	Polyendocrine-polyneuropathy syndrome	C4015261	OMIM	1	3
HP:0001251	HP:0001251	Ataxia	0	DNMT1	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	C1858804	OMIM	20	145
HP:0001251	HP:0001251	Ataxia	0	DPM1	8813	608799	Congenital disorder of glycosylation type 1E	C1837396	OMIM	9	27
HP:0001251	HP:0001251	Ataxia	0	EDNRB	1910	277580	Waardenburg syndrome type 4A	C1848519	OMIM	67	55
HP:0001251	HP:0001251	Ataxia	0	ERCC2	2068	278730	Xeroderma pigmentosum, group D	C0268138	OMIM	94	106
HP:0001251	HP:0001251	Ataxia	0	ERCC2	2068	220295	Xeroderma pigmentosum-Cockayne syndrome complex		ORPHA	94	106
HP:0001251	HP:0001251	Ataxia	0	ERCC3	2071	610651	Xeroderma pigmentosum, complementation group b	C1970808	OMIM	17	54
HP:0001251	HP:0001251	Ataxia	0	ERCC3	2071	220295	Xeroderma pigmentosum-Cockayne syndrome complex		ORPHA	17	54
HP:0001251	HP:0001251	Ataxia	0	ERCC4	2072	220295	Xeroderma pigmentosum-Cockayne syndrome complex		ORPHA	39	158
HP:0001251	HP:0001251	Ataxia	0	ERCC5	2073	220295	Xeroderma pigmentosum-Cockayne syndrome complex		ORPHA	53	83
HP:0001251	HP:0001251	Ataxia	0	ERCC6	2074	133540	Cockayne syndrome B	C0751038	OMIM	96	199
HP:0001251	HP:0001251	Ataxia	0	ERCC6	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	C0265201	OMIM	96	199
HP:0001251	HP:0001251	Ataxia	0	ERCC8	1161	216400	Cockayne syndrome type A	C0751039	OMIM	41	55
HP:0001251	HP:0001251	Ataxia	0	ETHE1	23474	602473	Ethylmalonic encephalopathy	C1865349	OMIM	34	42
HP:0001251	HP:0001251	Ataxia	0	FASTKD2	22868	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	2	122
HP:0001251	HP:0001251	Ataxia	0	FOXRED1	55572	256000	Leigh syndrome	C0023264	OMIM	7	61
HP:0001251	HP:0001251	Ataxia	0	FOXRED1	55572	252010	Mitochondrial complex I deficiency	C1838979	OMIM	7	61
HP:0001251	HP:0001251	Ataxia	0	FTL	2512	606159	Neuroferritinopathy	C1853578	OMIM	61	33
HP:0001251	HP:0001251	Ataxia	0	GABRA1	2554	33069	Dravet syndrome		ORPHA	35	134
HP:0001251	HP:0001251	Ataxia	0	GABRG2	2566	33069	Dravet syndrome		ORPHA	33	139
HP:0001251	HP:0001251	Ataxia	0	GAMT	2593	612736	Deficiency of guanidinoacetate methyltransferase	C0574080	OMIM	53	91
HP:0001251	HP:0001251	Ataxia	0	GBA	2629	77261	Gaucher disease type 3		ORPHA	460	108
HP:0001251	HP:0001251	Ataxia	0	GBA	2629	231000	Subacute neuronopathic Gaucher's disease	C0268251	OMIM	460	108
HP:0001251	HP:0001251	Ataxia	0	GFAP	2670	203450	Alexander's disease	C0270726	OMIM	115	188
HP:0001251	HP:0001251	Ataxia	0	GJA1	2697	2710	Hm syndrome		ORPHA	105	68
HP:0001251	HP:0001251	Ataxia	0	GJA1	2697	164200	Oculodentodigital dysplasia	C0812437	OMIM	105	68
HP:0001251	HP:0001251	Ataxia	0	GJC2	57165	608804	Leukodystrophy, hypomyelinating, 2	C1837355	OMIM	53	37
HP:0001251	HP:0001251	Ataxia	0	GLB1	2720	230600	GM1 gangliosidosis type 2	C0268272	OMIM	213	120
HP:0001251	HP:0001251	Ataxia	0	GMPPB	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	C3809216	OMIM	29	34
HP:0001251	HP:0001251	Ataxia	0	GOSR2	9570	614018	Epilepsy, progressive myoclonic 6	C3279627	OMIM	3	88
HP:0001251	HP:0001251	Ataxia	0	GPI	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	C3150730	OMIM	37	12
HP:0001251	HP:0001251	Ataxia	0	GRN	2896	614706	Ceroid lipofuscinosis, neuronal, 11	C3539123	OMIM	170	126
HP:0001251	HP:0001251	Ataxia	0	GSS	2937	266130	Gluthathione synthetase deficiency	C0398746	OMIM	34	39
HP:0001251	HP:0001251	Ataxia	0	HARS	3035	231183	Usher syndrome type 3		ORPHA	10	33
HP:0001251	HP:0001251	Ataxia	0	HEPACAM	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	C1858854	OMIM	23	82
HP:0001251	HP:0001251	Ataxia	0	HEPACAM	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	C3151355	OMIM	23	82
HP:0001251	HP:0001251	Ataxia	0	HEXB	3074	268800	Sandhoff disease	C0036161	OMIM	108	80
HP:0001251	HP:0001251	Ataxia	0	HTRA1	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	C1838577	OMIM	33	34
HP:0001251	HP:0001251	Ataxia	0	HYLS1	219844	475	Acquired hypoprothrombinemia		ORPHA	2	31
HP:0001251	HP:0001251	Ataxia	0	IFT140	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	C1849437	OMIM	49	148
HP:0001251	HP:0001251	Ataxia	0	IKBKAP	8518	1764	Familial dysautonomia		ORPHA	4
HP:0001251	HP:0001251	Ataxia	0	INPP5E	56623	475	Acquired hypoprothrombinemia		ORPHA	42	111
HP:0001251	HP:0001251	Ataxia	0	INPP5E	56623	1454	Common atrioventricular canal	C0221215	ORPHA	42	111
HP:0001251	HP:0001251	Ataxia	0	INPP5E	56623	213300	Joubert syndrome 1	CN119531	OMIM	42	111
HP:0001251	HP:0001251	Ataxia	0	INPP5E	56623	220493	Joubert syndrome with ocular defect		ORPHA	42	111
HP:0001251	HP:0001251	Ataxia	0	ITM2B	9445	117300	Dementia, familial Danish	C1861735	OMIM	3	3
HP:0001251	HP:0001251	Ataxia	0	ITPR1	3708	206700	Aniridia, cerebellar ataxia, and mental retardation	C0431401	OMIM	68	177
HP:0001251	HP:0001251	Ataxia	0	ITPR1	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia		ORPHA	68	177
HP:0001251	HP:0001251	Ataxia	0	KCNA1	3736	972	Brachydactyly preaxial with hallux varus and thumb abduction	C1862162	ORPHA	38	145
HP:0001251	HP:0001251	Ataxia	0	KCNA2	3737	616366	Epileptic encephalopathy, early infantile, 32	C4225350	OMIM	12	13
HP:0001251	HP:0001251	Ataxia	0	KCNJ10	3766	199343	EAST syndrome		ORPHA	27	121
HP:0001251	HP:0001251	Ataxia	0	KIAA0556	23247	475	Acquired hypoprothrombinemia		ORPHA	2	1
HP:0001251	HP:0001251	Ataxia	0	KIAA0586	9786	475	Acquired hypoprothrombinemia		ORPHA	28	24
HP:0001251	HP:0001251	Ataxia	0	KLLN	100144748	201	Cowden syndrome		ORPHA	8	1
HP:0001251	HP:0001251	Ataxia	0	LETM1	3954	280	Halal Setton Wang syndrome		ORPHA	3	2
HP:0001251	HP:0001251	Ataxia	0	LMBRD1	55788	79284	Methylmalonic acidemia with homocystinuria type cblF		ORPHA	9	46
HP:0001251	HP:0001251	Ataxia	0	LMNB1	4001	99027	Adult-onset autosomal dominant leukodystrophy		ORPHA	33	44
HP:0001251	HP:0001251	Ataxia	0	LMNB1	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	C1868512	OMIM	33	44
HP:0001251	HP:0001251	Ataxia	0	LRPPRC	10128	220111	Leigh syndrome, French Canadian type	C1857355	OMIM	15	191
HP:0001251	HP:0001251	Ataxia	0	MBD5	55777	228402	2q23.1 microdeletion syndrome		ORPHA	79	252
HP:0001251	HP:0001251	Ataxia	0	MBD5	55777	156200	Mental retardation, autosomal dominant 1	C1969562	OMIM	79	252
HP:0001251	HP:0001251	Ataxia	0	MCOLN1	57192	578	Akesson syndrome		ORPHA	32	78
HP:0001251	HP:0001251	Ataxia	0	MECP2	4204	300260	MECP2 duplication syndrome	C1846058	OMIM	960	950
HP:0001251	HP:0001251	Ataxia	0	MECP2	4204	300055	Mental retardation, X-linked, syndromic 13	C1968550	OMIM	960	950
HP:0001251	HP:0001251	Ataxia	0	MECP2	4204	778	Rett syndrome	C0035372	ORPHA	960	950
HP:0001251	HP:0001251	Ataxia	0	MFSD8	256471	610951	Ceroid lipofuscinosis neuronal 7	C1838571	OMIM	41	120
HP:0001251	HP:0001251	Ataxia	0	MKKS	8195	209900	Bardet-Biedl syndrome	C0752166	OMIM	57	69
HP:0001251	HP:0001251	Ataxia	0	MKS1	54903	475	Acquired hypoprothrombinemia		ORPHA	48	127
HP:0001251	HP:0001251	Ataxia	0	MKS1	54903	220493	Joubert syndrome with ocular defect		ORPHA	48	127
HP:0001251	HP:0001251	Ataxia	0	MLC1	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	C1858854	OMIM	111	112
HP:0001251	HP:0001251	Ataxia	0	MPDU1	9526	609180	Congenital disorder of glycosylation type 1F	C1836669	OMIM	5	32
HP:0001251	HP:0001251	Ataxia	0	MPV17	4358	256810	Navajo neurohepatopathy	C1850406	OMIM	40	56
HP:0001251	HP:0001251	Ataxia	0	MTTP	4547	200100	Abetalipoproteinaemia	C0000744	OMIM	72	81
HP:0001251	HP:0001251	Ataxia	0	MTTP	4547	14	Bilateral squint	CN228276	ORPHA	72	81
HP:0001251	HP:0001251	Ataxia	0	MVK	4598	29	CHARGE association	C0265354	ORPHA	170	150
HP:0001251	HP:0001251	Ataxia	0	MYO5A	4644	79476	Griscelli disease type 1		ORPHA	4	35
HP:0001251	HP:0001251	Ataxia	0	MYO7A	4647	231169	Usher syndrome type 1		ORPHA	421	516
HP:0001251	HP:0001251	Ataxia	0	NANS	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	C1864872	OMIM	12	8
HP:0001251	HP:0001251	Ataxia	0	ND1	4535	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	ND1	4535	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	ND2	4536	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	ND4	4538	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	ND4	4538	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	ND4L	4539	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	ND5	4540	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	ND5	4540	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	ND5	4540	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	ND6	4541	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	ND6	4541	535000	Leber's optic atrophy	C0917796	OMIM
HP:0001251	HP:0001251	Ataxia	0	NDUFA1	4694	252010	Mitochondrial complex I deficiency	C1838979	OMIM	5	7
HP:0001251	HP:0001251	Ataxia	0	NDUFA10	4705	256000	Leigh syndrome	C0023264	OMIM	5	91
HP:0001251	HP:0001251	Ataxia	0	NDUFA11	126328	252010	Mitochondrial complex I deficiency	C1838979	OMIM	1	32
HP:0001251	HP:0001251	Ataxia	0	NDUFA12	55967	256000	Leigh syndrome	C0023264	OMIM	1	7
HP:0001251	HP:0001251	Ataxia	0	NDUFA2	4695	256000	Leigh syndrome	C0023264	OMIM	4	19
HP:0001251	HP:0001251	Ataxia	0	NDUFA9	4704	256000	Leigh syndrome	C0023264	OMIM	1	27
HP:0001251	HP:0001251	Ataxia	0	NDUFAF1	51103	252010	Mitochondrial complex I deficiency	C1838979	OMIM	7	40
HP:0001251	HP:0001251	Ataxia	0	NDUFAF2	91942	256000	Leigh syndrome	C0023264	OMIM	8	26
HP:0001251	HP:0001251	Ataxia	0	NDUFAF2	91942	252010	Mitochondrial complex I deficiency	C1838979	OMIM	8	26
HP:0001251	HP:0001251	Ataxia	0	NDUFAF3	25915	252010	Mitochondrial complex I deficiency	C1838979	OMIM	5	31
HP:0001251	HP:0001251	Ataxia	0	NDUFAF4	29078	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	50
HP:0001251	HP:0001251	Ataxia	0	NDUFAF5	79133	252010	Mitochondrial complex I deficiency	C1838979	OMIM	10	34
HP:0001251	HP:0001251	Ataxia	0	NDUFAF6	137682	256000	Leigh syndrome	C0023264	OMIM	8	39
HP:0001251	HP:0001251	Ataxia	0	NDUFB3	4709	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	9
HP:0001251	HP:0001251	Ataxia	0	NDUFB9	4715	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	16
HP:0001251	HP:0001251	Ataxia	0	NDUFS1	4719	252010	Mitochondrial complex I deficiency	C1838979	OMIM	19	81
HP:0001251	HP:0001251	Ataxia	0	NDUFS2	4720	252010	Mitochondrial complex I deficiency	C1838979	OMIM	22	65
HP:0001251	HP:0001251	Ataxia	0	NDUFS3	4722	256000	Leigh syndrome	C0023264	OMIM	3	22
HP:0001251	HP:0001251	Ataxia	0	NDUFS3	4722	252010	Mitochondrial complex I deficiency	C1838979	OMIM	3	22
HP:0001251	HP:0001251	Ataxia	0	NDUFS4	4724	256000	Leigh syndrome	C0023264	OMIM	16	27
HP:0001251	HP:0001251	Ataxia	0	NDUFS4	4724	252010	Mitochondrial complex I deficiency	C1838979	OMIM	16	27
HP:0001251	HP:0001251	Ataxia	0	NDUFS6	4726	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	21
HP:0001251	HP:0001251	Ataxia	0	NDUFS7	374291	256000	Leigh syndrome	C0023264	OMIM	8	38
HP:0001251	HP:0001251	Ataxia	0	NDUFS8	4728	256000	Leigh syndrome	C0023264	OMIM	12	42
HP:0001251	HP:0001251	Ataxia	0	NDUFV1	4723	252010	Mitochondrial complex I deficiency	C1838979	OMIM	32	74
HP:0001251	HP:0001251	Ataxia	0	NDUFV2	4729	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	27
HP:0001251	HP:0001251	Ataxia	0	NELFA	7469	280	Halal Setton Wang syndrome		ORPHA	4
HP:0001251	HP:0001251	Ataxia	0	NEU1	4758	812	Sialidosis type 1		ORPHA	59	43
HP:0001251	HP:0001251	Ataxia	0	NF2	4771	637	Amaurosis congenita cone-rod type with congenital hypertrichosis	C1859843	ORPHA	426	220
HP:0001251	HP:0001251	Ataxia	0	NKX2-1	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	C1970269	OMIM	124	51
HP:0001251	HP:0001251	Ataxia	0	NME1	4830	256700	Neuroblastoma	C0027819	OMIM	1
HP:0001251	HP:0001251	Ataxia	0	NPC1	4864	257220	Niemann-Pick disease type C1	C3179455	OMIM	445	258
HP:0001251	HP:0001251	Ataxia	0	NPC2	10577	607625	Niemann-Pick disease type C2	C1843366	OMIM	27	33
HP:0001251	HP:0001251	Ataxia	0	NPHP1	4867	609583	Joubert syndrome 4	C1846790	OMIM	69	85
HP:0001251	HP:0001251	Ataxia	0	NPHP1	4867	220497	Joubert syndrome with renal defect		ORPHA	69	85
HP:0001251	HP:0001251	Ataxia	0	NSD2	7468	280	Halal Setton Wang syndrome		ORPHA	7	118
HP:0001251	HP:0001251	Ataxia	0	NUBPL	80224	252010	Mitochondrial complex I deficiency	C1838979	OMIM	9	89
HP:0001251	HP:0001251	Ataxia	0	OFD1	8481	2750	Trochlea of the humerus aplasia of	C1860773	ORPHA	155	201
HP:0001251	HP:0001251	Ataxia	0	OGDH	4967	31	Serpiginous choroiditis		ORPHA
HP:0001251	HP:0001251	Ataxia	0	OPA1	4976	210000	Abortive cerebellar ataxia	C0221061	OMIM	371	214
HP:0001251	HP:0001251	Ataxia	0	OPA1	4976	1239	Behr syndrome		ORPHA	371	214
HP:0001251	HP:0001251	Ataxia	0	OPA3	80207	258501	3-Methylglutaconic aciduria type 3	C0574084	OMIM	15	163
HP:0001251	HP:0001251	Ataxia	0	OPA3	80207	67047	3-methylglutaconic aciduria type 3		ORPHA	15	163
HP:0001251	HP:0001251	Ataxia	0	PANK2	80025	234200	Pigmentary pallidal degeneration	C0018523	OMIM	153	55
HP:0001251	HP:0001251	Ataxia	0	PAX6	5080	206700	Aniridia, cerebellar ataxia, and mental retardation	C0431401	OMIM	474	194
HP:0001251	HP:0001251	Ataxia	0	PAX6	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia		ORPHA	474	194
HP:0001251	HP:0001251	Ataxia	0	PCDH15	65217	231169	Usher syndrome type 1		ORPHA	101	352
HP:0001251	HP:0001251	Ataxia	0	PCDH19	57526	33069	Dravet syndrome		ORPHA	154	225
HP:0001251	HP:0001251	Ataxia	0	PCNA	5111	615919	Ataxia-telangiectasia-like disorder 2	C4014676	OMIM	1	1
HP:0001251	HP:0001251	Ataxia	0	PDHX	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	C1855553	OMIM	22	98
HP:0001251	HP:0001251	Ataxia	0	PET100	100131801	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	2	6
HP:0001251	HP:0001251	Ataxia	0	PEX1	5189	772	Infantile Refsum disease		ORPHA	123	169
HP:0001251	HP:0001251	Ataxia	0	PEX10	5192	772	Infantile Refsum disease		ORPHA	30	75
HP:0001251	HP:0001251	Ataxia	0	PEX10	5192	614871	Peroxisome biogenesis disorder 6B	C3553948	OMIM	30	75
HP:0001251	HP:0001251	Ataxia	0	PEX11B	8799	772	Infantile Refsum disease		ORPHA	5	4
HP:0001251	HP:0001251	Ataxia	0	PEX12	5193	772	Infantile Refsum disease		ORPHA	34	65
HP:0001251	HP:0001251	Ataxia	0	PEX13	5194	772	Infantile Refsum disease		ORPHA	10	66
HP:0001251	HP:0001251	Ataxia	0	PEX14	5195	772	Infantile Refsum disease		ORPHA	4	46
HP:0001251	HP:0001251	Ataxia	0	PEX16	9409	772	Infantile Refsum disease		ORPHA	12	59
HP:0001251	HP:0001251	Ataxia	0	PEX16	9409	614877	Peroxisome biogenesis disorder 8B	C3553960	OMIM	12	59
HP:0001251	HP:0001251	Ataxia	0	PEX19	5824	772	Infantile Refsum disease		ORPHA	3	62
HP:0001251	HP:0001251	Ataxia	0	PEX2	5828	772	Infantile Refsum disease		ORPHA	18	82
HP:0001251	HP:0001251	Ataxia	0	PEX26	55670	772	Infantile Refsum disease		ORPHA	23	106
HP:0001251	HP:0001251	Ataxia	0	PEX3	8504	772	Infantile Refsum disease		ORPHA	7	47
HP:0001251	HP:0001251	Ataxia	0	PEX5	5830	772	Infantile Refsum disease		ORPHA	14	99
HP:0001251	HP:0001251	Ataxia	0	PEX6	5190	772	Infantile Refsum disease		ORPHA	104	98
HP:0001251	HP:0001251	Ataxia	0	PEX6	5190	614863	Peroxisome biogenesis disorder 4B	C3553937	OMIM	104	98
HP:0001251	HP:0001251	Ataxia	0	PEX7	5191	266500	Phytanic acid storage disease	C0034960	OMIM	52	72
HP:0001251	HP:0001251	Ataxia	0	PEX7	5191	773	Refsum disease		ORPHA	52	72
HP:0001251	HP:0001251	Ataxia	0	PGK1	5230	300653	Phosphoglycerate kinase 1 deficiency	C1970848	OMIM	26	21
HP:0001251	HP:0001251	Ataxia	0	PGM3	5238	615816	Immunodeficiency 23	C4014371	OMIM	12	15
HP:0001251	HP:0001251	Ataxia	0	PHYH	5264	266500	Phytanic acid storage disease	C0034960	OMIM	37	45
HP:0001251	HP:0001251	Ataxia	0	PHYH	5264	773	Refsum disease		ORPHA	37	45
HP:0001251	HP:0001251	Ataxia	0	PIK3CA	5290	201	Cowden syndrome		ORPHA	46	162
HP:0001251	HP:0001251	Ataxia	0	PLA2G6	8398	256600	Infantile neuroaxonal dystrophy	C0270724	OMIM	155	133
HP:0001251	HP:0001251	Ataxia	0	PLP1	5354	312080	Pelizaeus-Merzbacher disease	C0205711	OMIM	316	60
HP:0001251	HP:0001251	Ataxia	0	PMM2	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	C0349653	OMIM	122	150
HP:0001251	HP:0001251	Ataxia	0	PMPCA	23203	1170	Autosomal recessive cerebelloparenchymal disorder type 3		ORPHA	7	7
HP:0001251	HP:0001251	Ataxia	0	PMPCA	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	C1859298	OMIM	7	7
HP:0001251	HP:0001251	Ataxia	0	PNKP	11284	616267	Ataxia-oculomotor apraxia 4	C4225397	OMIM	16	244
HP:0001251	HP:0001251	Ataxia	0	PNP	4860	613179	Purine-nucleoside phosphorylase deficiency	C0268125	OMIM	34	52
HP:0001251	HP:0001251	Ataxia	0	PNPLA6	10908	1180	Ataxia-hypogonadism-choroidal dystrophy syndrome		ORPHA	50	103
HP:0001251	HP:0001251	Ataxia	0	PNPLA6	10908	215470	Boucher Neuhauser syndrome	C1859093	OMIM	50	103
HP:0001251	HP:0001251	Ataxia	0	PNPLA6	10908	1173	CDG syndrome type 3		ORPHA	50	103
HP:0001251	HP:0001251	Ataxia	0	PNPLA6	10908	245800	Laurence-Moon syndrome	C0023138	OMIM	50	103
HP:0001251	HP:0001251	Ataxia	0	POLG	5428	726	Alpers-Huttenlocher syndrome		ORPHA	277	464
HP:0001251	HP:0001251	Ataxia	0	POLG	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	C3150914	OMIM	277	464
HP:0001251	HP:0001251	Ataxia	0	POLG	5428	203700	Progressive sclerosing poliodystrophy	C0205710	OMIM	277	464
HP:0001251	HP:0001251	Ataxia	0	POLR1C	9533	88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome		ORPHA	20	38
HP:0001251	HP:0001251	Ataxia	0	POLR3A	11128	88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome		ORPHA	69	138
HP:0001251	HP:0001251	Ataxia	0	POLR3B	55703	88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome		ORPHA	54	67
HP:0001251	HP:0001251	Ataxia	0	PPT1	5538	256730	Ceroid lipofuscinosis neuronal 1	C1850451	OMIM	77	172
HP:0001251	HP:0001251	Ataxia	0	PRF1	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	C1863727	OMIM	170	58
HP:0001251	HP:0001251	Ataxia	0	PRNP	5621	600072	Fatal familial insomnia	C0206042	OMIM	102	69
HP:0001251	HP:0001251	Ataxia	0	PRPS1	5631	301835	Arts syndrome	C0796028	OMIM	27	49
HP:0001251	HP:0001251	Ataxia	0	PRPS1	5631	1187	Cerebellar agenesis		ORPHA	27	49
HP:0001251	HP:0001251	Ataxia	0	PRPS1	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	C1970827	OMIM	27	49
HP:0001251	HP:0001251	Ataxia	0	PRRT2	112476	569	Familial or sporadic hemiplegic migraine		ORPHA	93	94
HP:0001251	HP:0001251	Ataxia	0	PRRT2	112476	31709	Infantile convulsions and choreoathetosis		ORPHA	93	94
HP:0001251	HP:0001251	Ataxia	0	PTEN	5728	201	Cowden syndrome		ORPHA	582	948
HP:0001251	HP:0001251	Ataxia	0	PTEN	5728	65285	Lhermitte-Duclos disease		ORPHA	582	948
HP:0001251	HP:0001251	Ataxia	0	PTRH2	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	C4015728	OMIM	2	6
HP:0001251	HP:0001251	Ataxia	0	PTS	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	C0878676	OMIM	88	19
HP:0001251	HP:0001251	Ataxia	0	RAD50	10111	613078	Nijmegen breakage syndrome-like disorder	C2751318	OMIM	59	789
HP:0001251	HP:0001251	Ataxia	0	RFT1	91869	612015	Congenital disorder of glycosylation type 1N	C2677590	OMIM	7	92
HP:0001251	HP:0001251	Ataxia	0	RNF168	165918	611943	Riddle syndrome	C2677792	OMIM	4	7
HP:0001251	HP:0001251	Ataxia	0	RNF216	54476	1173	CDG syndrome type 3		ORPHA	12	10
HP:0001251	HP:0001251	Ataxia	0	RNF216	54476	212840	Gordon Holmes syndrome	C1859305	OMIM	12	10
HP:0001251	HP:0001251	Ataxia	0	RNR1	4549	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	ROGDI	79641	226750	Kohlschutter's syndrome	C0406740	OMIM	10	57
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L	23322	216360	COACH syndrome	C1857662	OMIM	46	167
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L	23322	1454	Common atrioventricular canal	C0221215	ORPHA	46	167
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L	23322	611560	Joubert syndrome 7	C1969053	OMIM	46	167
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L	23322	220497	Joubert syndrome with renal defect		ORPHA	46	167
HP:0001251	HP:0001251	Ataxia	0	RPIA	22934	608611	Deficiency of ribose-5-phosphate isomerase	C1291609	OMIM	2	18
HP:0001251	HP:0001251	Ataxia	0	RRM2B	50484	480	Acrorenal mandibular syndrome	C1860166	ORPHA	41	125
HP:0001251	HP:0001251	Ataxia	0	RUBCN	9711	615705	Spinocerebellar ataxia, autosomal recessive 15	C3810326	OMIM	4	9
HP:0001251	HP:0001251	Ataxia	0	SAMD9L	219285	2585	Ataxia-pancytopenia syndrome		ORPHA	5	4
HP:0001251	HP:0001251	Ataxia	0	SAMD9L	219285	159550	Myelocerebellar disorder	C1327919	OMIM	5	4
HP:0001251	HP:0001251	Ataxia	0	SCN1A	6323	33069	Dravet syndrome		ORPHA	1443	1053
HP:0001251	HP:0001251	Ataxia	0	SCN1A	6323	569	Familial or sporadic hemiplegic migraine		ORPHA	1443	1053
HP:0001251	HP:0001251	Ataxia	0	SCN1A	6323	607208	Severe myoclonic epilepsy in infancy	C0751122	OMIM	1443	1053
HP:0001251	HP:0001251	Ataxia	0	SCN1B	6324	33069	Dravet syndrome		ORPHA	21	126
HP:0001251	HP:0001251	Ataxia	0	SCN2A	6326	33069	Dravet syndrome		ORPHA	204	427
HP:0001251	HP:0001251	Ataxia	0	SCN8A	6334	31709	Infantile convulsions and choreoathetosis		ORPHA	65	357
HP:0001251	HP:0001251	Ataxia	0	SCN9A	6335	33069	Dravet syndrome		ORPHA	106	318
HP:0001251	HP:0001251	Ataxia	0	SCO1	6341	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	5	46
HP:0001251	HP:0001251	Ataxia	0	SDCCAG8	10806	209900	Bardet-Biedl syndrome	C0752166	OMIM	18	61
HP:0001251	HP:0001251	Ataxia	0	SDHA	6389	256000	Leigh syndrome	C0023264	OMIM	44	304
HP:0001251	HP:0001251	Ataxia	0	SDHA	6389	252011	Mitochondrial complex II deficiency	C1855008	OMIM	44	304
HP:0001251	HP:0001251	Ataxia	0	SDHAF1	644096	252011	Mitochondrial complex II deficiency	C1855008	OMIM	6	16
HP:0001251	HP:0001251	Ataxia	0	SDHB	6390	201	Cowden syndrome		ORPHA	254	237
HP:0001251	HP:0001251	Ataxia	0	SDHC	6391	201	Cowden syndrome		ORPHA	56	147
HP:0001251	HP:0001251	Ataxia	0	SDHD	6392	201	Cowden syndrome		ORPHA	161	129
HP:0001251	HP:0001251	Ataxia	0	SDHD	6392	252011	Mitochondrial complex II deficiency	C1855008	OMIM	161	129
HP:0001251	HP:0001251	Ataxia	0	SEC23B	10483	201	Cowden syndrome		ORPHA	111	60
HP:0001251	HP:0001251	Ataxia	0	SLC13A5	284111	615905	Epileptic encephalopathy, early infantile, 25	C4014621	OMIM	17	73
HP:0001251	HP:0001251	Ataxia	0	SLC16A2	6567	300523	Allan-Herndon-Dudley syndrome	C0795889	OMIM	81	57
HP:0001251	HP:0001251	Ataxia	0	SLC16A2	6567	59	Erythrokeratodermia with ataxia	C1851481	ORPHA	81	57
HP:0001251	HP:0001251	Ataxia	0	SLC17A5	26503	604369	Salla disease	C1096903	OMIM	34	78
HP:0001251	HP:0001251	Ataxia	0	SLC39A4	55630	201100	Hereditary acrodermatitis enteropathica	C0221036	OMIM	49	55
HP:0001251	HP:0001251	Ataxia	0	SLC46A1	113235	229050	Congenital defect of folate absorption	C0342705	OMIM	20	101
HP:0001251	HP:0001251	Ataxia	0	SLC52A2	79581	614707	Brown-Vialetto-Van Laere syndrome 2	C3553538	OMIM	16	47
HP:0001251	HP:0001251	Ataxia	0	SLC6A1	6529	1942	Myoclonic-astastic epilepsy		ORPHA	16	29
HP:0001251	HP:0001251	Ataxia	0	SLC6A19	340024	2116	Encephalopathy-basal ganglia-calcification		ORPHA	25	12
HP:0001251	HP:0001251	Ataxia	0	SLC6A8	6535	52503	X-linked creatine transporter deficiency		ORPHA	127	122
HP:0001251	HP:0001251	Ataxia	0	SMARCB1	6598	99966	Atypical teratoid rhabdoid tumor		ORPHA	116	87
HP:0001251	HP:0001251	Ataxia	0	SNAP25	6616	616330	Myasthenic syndrome, congenital, 18	C4225364	OMIM	3	2
HP:0001251	HP:0001251	Ataxia	0	SNAP29	9342	66631	CEDNIK syndrome		ORPHA	12	94
HP:0001251	HP:0001251	Ataxia	0	SNORD118	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	C3281200	OMIM	35	6
HP:0001251	HP:0001251	Ataxia	0	SNX14	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	C4225355	OMIM	12	14
HP:0001251	HP:0001251	Ataxia	0	SOX10	6663	163746	Neurologic Waardenburg-Shah syndrome		ORPHA	130	61
HP:0001251	HP:0001251	Ataxia	0	SOX10	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	C1836727	OMIM	130	61
HP:0001251	HP:0001251	Ataxia	0	SPG11	80208	2822	Hyperinsulinism, focal		ORPHA	251	287
HP:0001251	HP:0001251	Ataxia	0	SPG11	80208	604360	Spastic paraplegia 11, autosomal recessive	C1858479	OMIM	251	287
HP:0001251	HP:0001251	Ataxia	0	SPR	6697	612716	Sepiapterin reductase deficiency	C0268468	OMIM	22	28
HP:0001251	HP:0001251	Ataxia	0	STXBP1	6812	33069	Dravet syndrome		ORPHA	168	237
HP:0001251	HP:0001251	Ataxia	0	SUCLA2	8803	1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		ORPHA	27	66
HP:0001251	HP:0001251	Ataxia	0	SUCLG1	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	C3151476	OMIM	28	60
HP:0001251	HP:0001251	Ataxia	0	SUMF1	285362	272200	Multiple sulfatase deficiency	C0268263	OMIM	51	80
HP:0001251	HP:0001251	Ataxia	0	SUOX	6821	272300	Sulfite oxidase deficiency	C0268624	OMIM	26	40
HP:0001251	HP:0001251	Ataxia	0	SURF1	6834	256000	Leigh syndrome	C0023264	OMIM	98	73
HP:0001251	HP:0001251	Ataxia	0	SYNE1	23345	88644	Autosomal recessive ataxia, Beauce type		ORPHA	114	1129
HP:0001251	HP:0001251	Ataxia	0	TACO1	51204	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	2	23
HP:0001251	HP:0001251	Ataxia	0	TCN2	6948	275350	Transcobalamin II deficiency	C0342701	OMIM	35	57
HP:0001251	HP:0001251	Ataxia	0	TCTN1	79600	475	Acquired hypoprothrombinemia		ORPHA	6	45
HP:0001251	HP:0001251	Ataxia	0	TCTN2	79867	475	Acquired hypoprothrombinemia		ORPHA	13	76
HP:0001251	HP:0001251	Ataxia	0	TDP1	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	C1846574	OMIM	2	52
HP:0001251	HP:0001251	Ataxia	0	TERC	7012	127550	Dyskeratosis congenita autosomal dominant	C1851970	OMIM	68	48
HP:0001251	HP:0001251	Ataxia	0	TERT	7015	127550	Dyskeratosis congenita autosomal dominant	C1851970	OMIM	164	238
HP:0001251	HP:0001251	Ataxia	0	TINF2	26277	127550	Dyskeratosis congenita autosomal dominant	C1851970	OMIM	34	60
HP:0001251	HP:0001251	Ataxia	0	TINF2	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	C3151445	OMIM	34	60
HP:0001251	HP:0001251	Ataxia	0	TINF2	26277	268130	Revesz syndrome	C1327916	OMIM	34	60
HP:0001251	HP:0001251	Ataxia	0	TMEM126B	55863	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	4
HP:0001251	HP:0001251	Ataxia	0	TMEM138	51524	2318	Joubert syndrome with oculorenal defect		ORPHA	7	39
HP:0001251	HP:0001251	Ataxia	0	TMEM216	51259	608091	Joubert syndrome 2	C1842577	OMIM	8	45
HP:0001251	HP:0001251	Ataxia	0	TMEM216	51259	2318	Joubert syndrome with oculorenal defect		ORPHA	8	45
HP:0001251	HP:0001251	Ataxia	0	TMEM231	79583	2318	Joubert syndrome with oculorenal defect		ORPHA	18	33
HP:0001251	HP:0001251	Ataxia	0	TMEM237	65062	475	Acquired hypoprothrombinemia		ORPHA	10	82
HP:0001251	HP:0001251	Ataxia	0	TMEM237	65062	614424	Joubert syndrome 14	C3280766	OMIM	10	82
HP:0001251	HP:0001251	Ataxia	0	TMEM237	65062	2318	Joubert syndrome with oculorenal defect		ORPHA	10	82
HP:0001251	HP:0001251	Ataxia	0	TMEM237	65062	220497	Joubert syndrome with renal defect		ORPHA	10	82
HP:0001251	HP:0001251	Ataxia	0	TMEM67	91147	475	Acquired hypoprothrombinemia		ORPHA	148	166
HP:0001251	HP:0001251	Ataxia	0	TMEM67	91147	216360	COACH syndrome	C1857662	OMIM	148	166
HP:0001251	HP:0001251	Ataxia	0	TMEM67	91147	1454	Common atrioventricular canal	C0221215	ORPHA	148	166
HP:0001251	HP:0001251	Ataxia	0	TMEM67	91147	610688	Joubert syndrome 6	C1853153	OMIM	148	166
HP:0001251	HP:0001251	Ataxia	0	TMEM70	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	C3279699	OMIM	18	63
HP:0001251	HP:0001251	Ataxia	0	TPK1	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	C3280866	OMIM	11	21
HP:0001251	HP:0001251	Ataxia	0	TPP1	1200	204500	Ceroid lipofuscinosis neuronal 2	C1876161	OMIM	109	203
HP:0001251	HP:0001251	Ataxia	0	TRAPPC11	60684	615356	Limb-girdle muscular dystrophy, type 2S	C3809236	OMIM	8	27
HP:0001251	HP:0001251	Ataxia	0	TRNF	4558	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNF	4558	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNF	4558	545000	Myoclonus with epilepsy with ragged red fibers	C0162672	OMIM
HP:0001251	HP:0001251	Ataxia	0	TRNH	4564	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNH	4564	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNI	4565	545000	Myoclonus with epilepsy with ragged red fibers	C0162672	OMIM
HP:0001251	HP:0001251	Ataxia	0	TRNK	4566	1349	Chromosome 9, partial monosomy 9p	C2931695	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNK	4566	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNK	4566	545000	Myoclonus with epilepsy with ragged red fibers	C0162672	OMIM
HP:0001251	HP:0001251	Ataxia	0	TRNL1	4567	480	Acrorenal mandibular syndrome	C1860166	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNL1	4567	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNL1	4567	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNL1	4567	545000	Myoclonus with epilepsy with ragged red fibers	C0162672	OMIM
HP:0001251	HP:0001251	Ataxia	0	TRNP	4571	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNP	4571	545000	Myoclonus with epilepsy with ragged red fibers	C0162672	OMIM
HP:0001251	HP:0001251	Ataxia	0	TRNQ	4572	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNQ	4572	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNS1	4574	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNS1	4574	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNS2	4575	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNS2	4575	551	MERRF		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNS2	4575	231183	Usher syndrome type 3		ORPHA
HP:0001251	HP:0001251	Ataxia	0	TRNW	4578	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0001251	HP:0001251	Ataxia	0	TSFM	10102	610505	Combined oxidative phosphorylation deficiency 3	C1864840	OMIM	7	43
HP:0001251	HP:0001251	Ataxia	0	TTPA	7274	277460	Ataxia with vitamin E deficiency	C1848533	OMIM	28	62
HP:0001251	HP:0001251	Ataxia	0	TTR	7276	105210	Amyloidogenic transthyretin amyloidosis	C2751492	OMIM	140	107
HP:0001251	HP:0001251	Ataxia	0	TUBA1A	7846	611603	Lissencephaly 3	C1969029	OMIM	63	106
HP:0001251	HP:0001251	Ataxia	0	TUBB	203068	615771	Cortical dysplasia, complex, with other brain malformations 6	C4014283	OMIM	5	14
HP:0001251	HP:0001251	Ataxia	0	TWNK	56652	1186	Infantile onset spinocerebellar ataxia		ORPHA	74	113
HP:0001251	HP:0001251	Ataxia	0	TWNK	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	C1849096	OMIM	74	113
HP:0001251	HP:0001251	Ataxia	0	TWNK	56652	616138	Perrault syndrome 5	C4015307	OMIM	74	113
HP:0001251	HP:0001251	Ataxia	0	UQCRQ	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	C3554607	OMIM	1	34
HP:0001251	HP:0001251	Ataxia	0	UROC1	131669	276880	Urocanate hydratase deficiency	C0268514	OMIM	3	8
HP:0001251	HP:0001251	Ataxia	0	USH1C	10083	231169	Usher syndrome type 1		ORPHA	47	173
HP:0001251	HP:0001251	Ataxia	0	USH1G	124590	231169	Usher syndrome type 1		ORPHA	25	78
HP:0001251	HP:0001251	Ataxia	0	VHL	7428	892	Billet Bear syndrome		ORPHA	580	490
HP:0001251	HP:0001251	Ataxia	0	VLDLR	7436	1766	Dysequilibrium syndrome		ORPHA	27	111
HP:0001251	HP:0001251	Ataxia	0	VPS13A	23230	2388	Friedreich ataxia congenital glaucoma	C1856688	ORPHA	113	130
HP:0001251	HP:0001251	Ataxia	0	VRK1	7443	607596	Pontocerebellar hypoplasia type 1A	C1843504	OMIM	8	32
HP:0001251	HP:0001251	Ataxia	0	WDR73	84942	83472	CAMOS syndrome		ORPHA	11	14
HP:0001251	HP:0001251	Ataxia	0	WDR81	124997	1766	Dysequilibrium syndrome		ORPHA	3	27
HP:0001251	HP:0001251	Ataxia	0	WFS1	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	C0043207	OMIM	353	389
HP:0001251	HP:0001251	Ataxia	0	WFS1	7466	3463	Wolfram syndrome		ORPHA	353	389
HP:0001251	HP:0001251	Ataxia	0	XPA	7507	278700	Xeroderma pigmentosum, type 1	C0268135	OMIM	48	34
HP:0001251	HP:0001251	Ataxia	0	ZFYVE26	23503	270700	Spastic paraplegia 15	C1849128	OMIM	37	189
HP:0001251	HP:0001251	Ataxia	0	ZNF423	23090	2318	Joubert syndrome with oculorenal defect		ORPHA	6	49
HP:0001251	HP:0001251	Ataxia	0	ZNF592	9640	83472	CAMOS syndrome		ORPHA	1	4
HP:0001251	HP:0009878	Cerebellar ataxia associated with quadrupedal gait	1
HP:0001251	HP:0010867	Dyssynergia	1
HP:0001251	HP:0002470	Nonprogressive cerebellar ataxia	1	ABCB7	22	301310	Anemia sideroblastic and spinocerebellar ataxia	C1845028	OMIM	7	35
HP:0001251	HP:0001310	Dysmetria	1	ABCB7	22	301310	Anemia sideroblastic and spinocerebellar ataxia	C1845028	OMIM	7	35
HP:0001251	HP:0002075	Dysdiadochokinesis	1	ABCB7	22	301310	Anemia sideroblastic and spinocerebellar ataxia	C1845028	OMIM	7	35
HP:0001251	HP:0002078	Truncal ataxia	1	ABCD1	215	300100	Adrenoleukodystrophy	C0162309	OMIM	657	135
HP:0001251	HP:0002070	Limb ataxia	1	ABCD1	215	300100	Adrenoleukodystrophy	C0162309	OMIM	657	135
HP:0001251	HP:0001310	Dysmetria	1	ABHD12	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	C2675204	OMIM	16	50
HP:0001251	HP:0002078	Truncal ataxia	1	ADGRG1	9289	606854	Polymicrogyria, bilateral frontoparietal	C1847352	OMIM	30	88
HP:0001251	HP:0002066	Gait ataxia	1	ADSL	158	103050	Adenylosuccinate lyase deficiency	C0268126	OMIM	53	118
HP:0001251	HP:0002075	Dysdiadochokinesis	1	AFG3L2	10939	614487	Spastic ataxia 5, autosomal recessive	C3280977	OMIM	26	86
HP:0001251	HP:0002497	Spastic ataxia	1	AFG3L2	10939	614487	Spastic ataxia 5, autosomal recessive	C3280977	OMIM	26	86
HP:0001251	HP:0001310	Dysmetria	1	AFG3L2	10939	614487	Spastic ataxia 5, autosomal recessive	C3280977	OMIM	26	86
HP:0001251	HP:0002066	Gait ataxia	1	AFG3L2	10939	610246	Spinocerebellar ataxia 28	C1853249	OMIM	26	86
HP:0001251	HP:0002070	Limb ataxia	1	AFG3L2	10939	610246	Spinocerebellar ataxia 28	C1853249	OMIM	26	86
HP:0001251	HP:0002078	Truncal ataxia	1	ANO10	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	C3150998	OMIM	17	64
HP:0001251	HP:0002066	Gait ataxia	1	ANO10	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	C3150998	OMIM	17	64
HP:0001251	HP:0002070	Limb ataxia	1	ANO10	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	C3150998	OMIM	17	64
HP:0001251	HP:0001310	Dysmetria	1	ANO10	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	C3150998	OMIM	17	64
HP:0001251	HP:0002078	Truncal ataxia	1	APTX	54840	208920	Adult onset ataxia with oculomotor apraxia	C1859598	OMIM	40	61
HP:0001251	HP:0002066	Gait ataxia	1	APTX	54840	208920	Adult onset ataxia with oculomotor apraxia	C1859598	OMIM	40	61
HP:0001251	HP:0002070	Limb ataxia	1	APTX	54840	208920	Adult onset ataxia with oculomotor apraxia	C1859598	OMIM	40	61
HP:0001251	HP:0002066	Gait ataxia	1	ATCAY	85300	601238	Cerebellar ataxia, cayman type	C1832585	OMIM	2	72
HP:0001251	HP:0002131	Episodic ataxia	1	ATP1A2	477	602481	Familial hemiplegic migraine type 2	C1865322	OMIM	85	239
HP:0001251	HP:0002078	Truncal ataxia	1	ATP1A3	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	C1832466	OMIM	100	150
HP:0001251	HP:0001310	Dysmetria	1	ATP1A3	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	C1832466	OMIM	100	150
HP:0001251	HP:0002131	Episodic ataxia	1	ATP1A3	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	C1832466	OMIM	100	150
HP:0001251	HP:0002066	Gait ataxia	1	ATP1A3	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	C1832466	OMIM	100	150
HP:0001251	HP:0002078	Truncal ataxia	1	ATP8A2	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	C3808977	OMIM	6	24
HP:0001251	HP:0002075	Dysdiadochokinesis	1	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0001251	HP:0002070	Limb ataxia	1	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0001251	HP:0002078	Truncal ataxia	1	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0001251	HP:0001310	Dysmetria	1	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0001251	HP:0001310	Dysmetria	1	ATXN10	25814	603516	Spinocerebellar ataxia 10	C1963674	OMIM	4	9
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ATXN10	25814	603516	Spinocerebellar ataxia 10	C1963674	OMIM	4	9
HP:0001251	HP:0002066	Gait ataxia	1	ATXN10	25814	603516	Spinocerebellar ataxia 10	C1963674	OMIM	4	9
HP:0001251	HP:0002075	Dysdiadochokinesis	1	ATXN10	25814	603516	Spinocerebellar ataxia 10	C1963674	OMIM	4	9
HP:0001251	HP:0002070	Limb ataxia	1	ATXN10	25814	603516	Spinocerebellar ataxia 10	C1963674	OMIM	4	9
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ATXN2	6311	183090	Spinocerebellar ataxia 2	C0752121	OMIM	39	11
HP:0001251	HP:0001310	Dysmetria	1	ATXN2	6311	183090	Spinocerebellar ataxia 2	C0752121	OMIM	39	11
HP:0001251	HP:0002075	Dysdiadochokinesis	1	ATXN2	6311	183090	Spinocerebellar ataxia 2	C0752121	OMIM	39	11
HP:0001251	HP:0002070	Limb ataxia	1	ATXN2	6311	183090	Spinocerebellar ataxia 2	C0752121	OMIM	39	11
HP:0001251	HP:0002078	Truncal ataxia	1	ATXN3	4287	109150	Azorean disease	C0024408	OMIM	3	14
HP:0001251	HP:0002070	Limb ataxia	1	ATXN3	4287	109150	Azorean disease	C0024408	OMIM	3	14
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ATXN3	4287	109150	Azorean disease	C0024408	OMIM	3	14
HP:0001251	HP:0001310	Dysmetria	1	ATXN7	6314	164500	Spinocerebellar ataxia 7	C0752125	OMIM	5	8
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ATXN8	724066	608768	Spinocerebellar ataxia 8	C1837454	OMIM	2	1
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ATXN8OS	6315	608768	Spinocerebellar ataxia 8	C1837454	OMIM	5	1
HP:0001251	HP:0001310	Dysmetria	1	BAZ1B	9031	904	Blepharophimosis nasal groove growth retardation		ORPHA	2
HP:0001251	HP:0002066	Gait ataxia	1	BEAN1	146227	117210	Spinocerebellar ataxia 31	C1861736	OMIM	2	1
HP:0001251	HP:0002070	Limb ataxia	1	BEAN1	146227	117210	Spinocerebellar ataxia 31	C1861736	OMIM	2	1
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	CACNA1A	773	108500	Episodic ataxia type 2	C1720416	OMIM	189	449
HP:0001251	HP:0002131	Episodic ataxia	1	CACNA1A	773	108500	Episodic ataxia type 2	C1720416	OMIM	189	449
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	CACNA1A	773	183086	Spinocerebellar ataxia 6	C0752124	OMIM	189	449
HP:0001251	HP:0002131	Episodic ataxia	1	CACNB4	785	613855	Episodic ataxia, type 5	C1866039	OMIM	7	146
HP:0001251	HP:0001310	Dysmetria	1	CAMTA1	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	C3553661	OMIM	8	34
HP:0001251	HP:0002066	Gait ataxia	1	CAV1	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	C1847582	OMIM	11	11
HP:0001251	HP:0001310	Dysmetria	1	CAV1	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	C1847582	OMIM	11	11
HP:0001251	HP:0002075	Dysdiadochokinesis	1	CCDC88C	440193	616053	Spinocerebellar ataxia 40	CN219009	OMIM	6	54
HP:0001251	HP:0002066	Gait ataxia	1	CHAMP1	283489	616579	Mental retardation, autosomal dominant 40	C4225275	OMIM	15	16
HP:0001251	HP:0002070	Limb ataxia	1	CLCN2	1181	615651	Leukoencephalopathy with ataxia	C3810242	OMIM	30	44
HP:0001251	HP:0002066	Gait ataxia	1	CLCN2	1181	615651	Leukoencephalopathy with ataxia	C3810242	OMIM	30	44
HP:0001251	HP:0001310	Dysmetria	1	CLIP2	7461	904	Blepharophimosis nasal groove growth retardation		ORPHA
HP:0001251	HP:0002078	Truncal ataxia	1	COG5	10466	613612	Congenital disorder of glycosylation type 2i	C3150876	OMIM	10	79
HP:0001251	HP:0001310	Dysmetria	1	CTDP1	9150	48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		ORPHA	1	17
HP:0001251	HP:0002066	Gait ataxia	1	CUL4B	8450	300354	Syndromic X-linked mental retardation, Cabezas type	C1845861	OMIM	35	38
HP:0001251	HP:0002078	Truncal ataxia	1	CWF19L1	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	C4015301	OMIM	4	9
HP:0001251	HP:0001310	Dysmetria	1	CWF19L1	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	C4015301	OMIM	4	9
HP:0001251	HP:0002470	Nonprogressive cerebellar ataxia	1	DNAJC19	131118	610198	3-methylglutaconic aciduria type V	C1857776	OMIM	3	25
HP:0001251	HP:0002066	Gait ataxia	1	DNAJC3	5611	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	C4015436	OMIM	3	3
HP:0001251	HP:0002066	Gait ataxia	1	DNAJC6	9829	391411	Atypical juvenile parkinsonism		ORPHA	13	6
HP:0001251	HP:0002078	Truncal ataxia	1	EEF2	1938	609306	Spinocerebellar ataxia 26	C1836395	OMIM	1	4
HP:0001251	HP:0002066	Gait ataxia	1	EEF2	1938	609306	Spinocerebellar ataxia 26	C1836395	OMIM	1	4
HP:0001251	HP:0002070	Limb ataxia	1	EEF2	1938	609306	Spinocerebellar ataxia 26	C1836395	OMIM	1	4
HP:0001251	HP:0001310	Dysmetria	1	ELN	2006	904	Blepharophimosis nasal groove growth retardation		ORPHA	108	172
HP:0001251	HP:0002075	Dysdiadochokinesis	1	ELOVL4	6785	1955	Spinocerebellar ataxia type 34		ORPHA	12	62
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	ELOVL4	6785	1955	Spinocerebellar ataxia type 34		ORPHA	12	62
HP:0001251	HP:0002070	Limb ataxia	1	ELOVL5	60481	615957	Spinocerebellar ataxia 38	C4014812	OMIM	3	4
HP:0001251	HP:0002066	Gait ataxia	1	ELOVL5	60481	615957	Spinocerebellar ataxia 38	C4014812	OMIM	3	4
HP:0001251	HP:0001310	Dysmetria	1	ERMARD	55780	75857	6q terminal deletion syndrome		ORPHA	2	36
HP:0001251	HP:0002066	Gait ataxia	1	ERMARD	55780	75857	6q terminal deletion syndrome		ORPHA	2	36
HP:0001251	HP:0001310	Dysmetria	1	FA2H	79152	612319	Spastic paraplegia 35	C3668943	OMIM	41	76
HP:0001251	HP:0002078	Truncal ataxia	1	FGF14	2259	609307	Spinocerebellar ataxia 27	C1836383	OMIM	9	47
HP:0001251	HP:0001310	Dysmetria	1	FMR1	2332	300623	Fragile X tremor/ataxia syndrome	C1839780	OMIM	81	30
HP:0001251	HP:0002066	Gait ataxia	1	FMR1	2332	300623	Fragile X tremor/ataxia syndrome	C1839780	OMIM	81	30
HP:0001251	HP:0002075	Dysdiadochokinesis	1	FMR1	2332	300623	Fragile X tremor/ataxia syndrome	C1839780	OMIM	81	30
HP:0001251	HP:0002066	Gait ataxia	1	FMR1	2332	93256	Fragile X-associated tremor/ataxia syndrome		ORPHA	81	30
HP:0001251	HP:0001310	Dysmetria	1	FMR1	2332	93256	Fragile X-associated tremor/ataxia syndrome		ORPHA	81	30
HP:0001251	HP:0001310	Dysmetria	1	FXN	2395	95	Friedreich ataxia		ORPHA	65	18
HP:0001251	HP:0002066	Gait ataxia	1	FXN	2395	95	Friedreich ataxia		ORPHA	65	18
HP:0001251	HP:0002070	Limb ataxia	1	FXN	2395	95	Friedreich ataxia		ORPHA	65	18
HP:0001251	HP:0002070	Limb ataxia	1	FXN	2395	229300	Friedreich ataxia 1	C1856689	OMIM	65	18
HP:0001251	HP:0002066	Gait ataxia	1	FXN	2395	229300	Friedreich ataxia 1	C1856689	OMIM	65	18
HP:0001251	HP:0002066	Gait ataxia	1	GCH1	2643	128230	Dystonia 5, Dopa-responsive type	C1851920	OMIM	229	86
HP:0001251	HP:0001310	Dysmetria	1	GJC2	57165	613206	Spastic paraplegia 44, autosomal recessive	C2750784	OMIM	53	37
HP:0001251	HP:0002078	Truncal ataxia	1	GRID2	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	C4015505	OMIM	14	18
HP:0001251	HP:0002066	Gait ataxia	1	GRID2	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	C4015505	OMIM	14	18
HP:0001251	HP:0002075	Dysdiadochokinesis	1	GRID2	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	C4015505	OMIM	14	18
HP:0001251	HP:0001310	Dysmetria	1	GRID2	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	C4015505	OMIM	14	18
HP:0001251	HP:0002075	Dysdiadochokinesis	1	GRM1	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	C3553816	OMIM	16	8
HP:0001251	HP:0001310	Dysmetria	1	GRM1	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	C3553816	OMIM	16	8
HP:0001251	HP:0001310	Dysmetria	1	GTF2I	2969	904	Blepharophimosis nasal groove growth retardation		ORPHA	1	1
HP:0001251	HP:0001310	Dysmetria	1	GTF2IRD1	9569	904	Blepharophimosis nasal groove growth retardation		ORPHA	6	1
HP:0001251	HP:0002078	Truncal ataxia	1	HARS	3035	614504	Usher syndrome, type 3B	C3281066	OMIM	10	33
HP:0001251	HP:0001310	Dysmetria	1	HIBCH	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	C0342738	OMIM	14	32
HP:0001251	HP:0002066	Gait ataxia	1	HSD17B4	3295	233400	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	C0685838	OMIM	95	98
HP:0001251	HP:0002066	Gait ataxia	1	HTT	3064	143100	Huntington's chorea	C0020179	OMIM	8	12
HP:0001251	HP:0002131	Episodic ataxia	1	KCNA1	3736	160120	Episodic ataxia type 1	C1719788	OMIM	38	145
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	KCNC3	3748	605259	Spinocerebellar ataxia 13	C1854488	OMIM	8	17
HP:0001251	HP:0002066	Gait ataxia	1	KCNC3	3748	605259	Spinocerebellar ataxia 13	C1854488	OMIM	8	17
HP:0001251	HP:0002070	Limb ataxia	1	KCNC3	3748	605259	Spinocerebellar ataxia 13	C1854488	OMIM	8	17
HP:0001251	HP:0002078	Truncal ataxia	1	KCND3	3752	607346	Spinocerebellar ataxia 19	C1846367	OMIM	17	35
HP:0001251	HP:0002070	Limb ataxia	1	KCND3	3752	607346	Spinocerebellar ataxia 19	C1846367	OMIM	17	35
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	KCND3	3752	607346	Spinocerebellar ataxia 19	C1846367	OMIM	17	35
HP:0001251	HP:0002066	Gait ataxia	1	KCND3	3752	607346	Spinocerebellar ataxia 19	C1846367	OMIM	17	35
HP:0001251	HP:0002075	Dysdiadochokinesis	1	KCNJ10	3766	612780	SeSAME syndrome	C2748572	OMIM	27	121
HP:0001251	HP:0002078	Truncal ataxia	1	KCTD7	154881	611726	Epilepsy, progressive myoclonic 3	C2673257	OMIM	14	106
HP:0001251	HP:0001310	Dysmetria	1	KIF1A	547	610357	Spastic paraplegia 30, autosomal recessive	C1835896	OMIM	33	276
HP:0001251	HP:0002497	Spastic ataxia	1	KIF1C	10749	611302	Ataxia, spastic, 2, autosomal recessive	C1969796	OMIM	7	38
HP:0001251	HP:0001310	Dysmetria	1	KIF1C	10749	611302	Ataxia, spastic, 2, autosomal recessive	C1969796	OMIM	7	38
HP:0001251	HP:0002066	Gait ataxia	1	KIF1C	10749	611302	Ataxia, spastic, 2, autosomal recessive	C1969796	OMIM	7	38
HP:0001251	HP:0001310	Dysmetria	1	LIMK1	3984	904	Blepharophimosis nasal groove growth retardation		ORPHA	6
HP:0001251	HP:0002066	Gait ataxia	1	LMNB2	84823	616540	Epilepsy, progressive myoclonic, 9	C4225289	OMIM	5	11
HP:0001251	HP:0001310	Dysmetria	1	MAG	4099	616680	Spastic paraplegia 75, autosomal recessive	C4225250	OMIM	3	4
HP:0001251	HP:0002066	Gait ataxia	1	MAN2B1	4125	248500	Deficiency of alpha-mannosidase	C0024748	OMIM	140	136
HP:0001251	HP:0002070	Limb ataxia	1	MAN2B1	4125	248500	Deficiency of alpha-mannosidase	C0024748	OMIM	140	136
HP:0001251	HP:0002497	Spastic ataxia	1	MARS2	92935	611390	Ataxia, spastic, 3, autosomal recessive	C1969645	OMIM	5	25
HP:0001251	HP:0001310	Dysmetria	1	MARS2	92935	611390	Ataxia, spastic, 3, autosomal recessive	C1969645	OMIM	5	25
HP:0001251	HP:0002066	Gait ataxia	1	MARS2	92935	611390	Ataxia, spastic, 3, autosomal recessive	C1969645	OMIM	5	25
HP:0001251	HP:0002066	Gait ataxia	1	MECP2	4204	312750	Rett syndrome	C0035372	OMIM	960	950
HP:0001251	HP:0002078	Truncal ataxia	1	MECP2	4204	312750	Rett syndrome	C0035372	OMIM	960	950
HP:0001251	HP:0002497	Spastic ataxia	1	MMADHC	27249	277410	Methylmalonic acidemia with homocystinuria cblD	C1848552	OMIM	13	50
HP:0001251	HP:0002066	Gait ataxia	1	MPZ	4359	180800	Roussy-Lévy syndrome	C0205713	OMIM	237	134
HP:0001251	HP:0002075	Dysdiadochokinesis	1	MRE11	4361	604391	Ataxia-telangiectasia-like disorder 1	C1858391	OMIM	44	532
HP:0001251	HP:0002066	Gait ataxia	1	MRE11	4361	604391	Ataxia-telangiectasia-like disorder 1	C1858391	OMIM	44	532
HP:0001251	HP:0002497	Spastic ataxia	1	MTPAP	55149	613672	Ataxia, spastic, 4, autosomal recessive	C3150925	OMIM	2	19
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	MVK	4598	610377	Mevalonic aciduria	C1959626	OMIM	170	150
HP:0001251	HP:0002078	Truncal ataxia	1	NAT8L	339983	614063	N-acetylaspartate deficiency	C3279716	OMIM	1	1
HP:0001251	HP:0001310	Dysmetria	1	NEU1	4758	256550	Sialidosis, type II	C0268226	OMIM	59	43
HP:0001251	HP:0002070	Limb ataxia	1	NOP56	10528	614153	Spinocerebellar ataxia 36	C3472711	OMIM	1	9
HP:0001251	HP:0002066	Gait ataxia	1	NOP56	10528	614153	Spinocerebellar ataxia 36	C3472711	OMIM	1	9
HP:0001251	HP:0002066	Gait ataxia	1	OPHN1	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	C1845366	OMIM	34	55
HP:0001251	HP:0001310	Dysmetria	1	OPHN1	4983	137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		ORPHA	34	55
HP:0001251	HP:0002131	Episodic ataxia	1	OTC	5009	311250	Ornithine carbamoyltransferase deficiency	C0268542	OMIM	504	369
HP:0001251	HP:0002075	Dysdiadochokinesis	1	PDE8B	8622	228169	Autosomal dominant striatal neurodegeneration		ORPHA	9	75
HP:0001251	HP:0002075	Dysdiadochokinesis	1	PDE8B	8622	609161	Striatal degeneration, autosomal dominant	C1836694	OMIM	9	75
HP:0001251	HP:0002075	Dysdiadochokinesis	1	PDGFB	5155	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	17	9
HP:0001251	HP:0002075	Dysdiadochokinesis	1	PDGFRB	5159	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	11	28
HP:0001251	HP:0002131	Episodic ataxia	1	PDHA1	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	C1839414	OMIM	168	88
HP:0001251	HP:0002066	Gait ataxia	1	PDP1	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	C1837429	OMIM	2	52
HP:0001251	HP:0002066	Gait ataxia	1	PDYN	5173	610245	Spinocerebellar ataxia 23	C1853250	OMIM	18	52
HP:0001251	HP:0002070	Limb ataxia	1	PDYN	5173	610245	Spinocerebellar ataxia 23	C1853250	OMIM	18	52
HP:0001251	HP:0001310	Dysmetria	1	PDYN	5173	610245	Spinocerebellar ataxia 23	C1853250	OMIM	18	52
HP:0001251	HP:0001310	Dysmetria	1	PEX2	5828	614867	Peroxisome biogenesis disorder 5B	C3542026	OMIM	18	82
HP:0001251	HP:0001310	Dysmetria	1	PIK3R5	23533	615217	Ataxia-oculomotor apraxia 3	C3554690	OMIM	1	11
HP:0001251	HP:0002075	Dysdiadochokinesis	1	PLA2G6	8398	610217	Neurodegeneration with brain iron accumulation 2b	C1857747	OMIM	155	133
HP:0001251	HP:0001310	Dysmetria	1	PLA2G6	8398	610217	Neurodegeneration with brain iron accumulation 2b	C1857747	OMIM	155	133
HP:0001251	HP:0002066	Gait ataxia	1	PLA2G6	8398	610217	Neurodegeneration with brain iron accumulation 2b	C1857747	OMIM	155	133
HP:0001251	HP:0001310	Dysmetria	1	PLP1	5354	312920	Spastic paraplegia 2	C1839264	OMIM	316	60
HP:0001251	HP:0002066	Gait ataxia	1	PMP22	5376	180800	Roussy-Lévy syndrome	C0205713	OMIM	156	79
HP:0001251	HP:0001310	Dysmetria	1	PMPCA	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	C1859298	OMIM	7	7
HP:0001251	HP:0001310	Dysmetria	1	PNPLA8	50640	251950	Mitochondrial myopathy with lactic acidosis	C1855033	OMIM	4	3
HP:0001251	HP:0002066	Gait ataxia	1	POLG	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	C1834846	OMIM	277	464
HP:0001251	HP:0002070	Limb ataxia	1	POLG	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	C1850303	OMIM	277	464
HP:0001251	HP:0002066	Gait ataxia	1	POLG	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	C1850303	OMIM	277	464
HP:0001251	HP:0001310	Dysmetria	1	POLR3A	11128	607694	Hypomyelinating leukodystrophy 7	C1843200	OMIM	69	138
HP:0001251	HP:0001310	Dysmetria	1	POLR3B	55703	607694	Hypomyelinating leukodystrophy 7	C1843200	OMIM	54	67
HP:0001251	HP:0001310	Dysmetria	1	POLR3B	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	C3280644	OMIM	54	67
HP:0001251	HP:0002075	Dysdiadochokinesis	1	POLR3B	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	C3280644	OMIM	54	67
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	PPP2R2B	5521	604326	Spinocerebellar ataxia 12	C1858501	OMIM	6	5
HP:0001251	HP:0002075	Dysdiadochokinesis	1	PPP2R2B	5521	604326	Spinocerebellar ataxia 12	C1858501	OMIM	6	5
HP:0001251	HP:0001310	Dysmetria	1	PPP2R2B	5521	604326	Spinocerebellar ataxia 12	C1858501	OMIM	6	5
HP:0001251	HP:0001310	Dysmetria	1	PRICKLE1	144165	612437	Progressive myoclonus epilepsy with ataxia	C2676254	OMIM	14	133
HP:0001251	HP:0001310	Dysmetria	1	PRICKLE2	166336	613832	Epilepsy, progressive myoclonic 5	CN226157	OMIM	6	107
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	PRKCG	5582	605361	Spinocerebellar ataxia 14	C1854369	OMIM	40	83
HP:0001251	HP:0001310	Dysmetria	1	PRKCG	5582	605361	Spinocerebellar ataxia 14	C1854369	OMIM	40	83
HP:0001251	HP:0002066	Gait ataxia	1	PRKCG	5582	605361	Spinocerebellar ataxia 14	C1854369	OMIM	40	83
HP:0001251	HP:0002066	Gait ataxia	1	PRNP	5621	137440	Gerstmann-Straussler-Scheinker syndrome	C0017495	OMIM	102	69
HP:0001251	HP:0002070	Limb ataxia	1	PRNP	5621	137440	Gerstmann-Straussler-Scheinker syndrome	C0017495	OMIM	102	69
HP:0001251	HP:0002078	Truncal ataxia	1	PRNP	5621	137440	Gerstmann-Straussler-Scheinker syndrome	C0017495	OMIM	102	69
HP:0001251	HP:0001310	Dysmetria	1	PRNP	5621	603218	Huntington disease-like 1	C1864112	OMIM	102	69
HP:0001251	HP:0002066	Gait ataxia	1	PRNP	5621	123400	Jakob-Creutzfeldt disease	C0022336	OMIM	102	69
HP:0001251	HP:0002066	Gait ataxia	1	PSAP	5660	249900	Sphingolipid activator protein 1 deficiency	C0268262	OMIM	24	81
HP:0001251	HP:0001310	Dysmetria	1	RARS	5917	616140	Leukodystrophy, hypomyelinating, 9	C4015323	OMIM	7	40
HP:0001251	HP:0001310	Dysmetria	1	RFC2	5982	904	Blepharophimosis nasal groove growth retardation		ORPHA	2
HP:0001251	HP:0002066	Gait ataxia	1	RRM2B	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	C2749861	OMIM	41	125
HP:0001251	HP:0002497	Spastic ataxia	1	SACS	26278	270550	Spastic ataxia Charlevoix-Saguenay type	C1849140	OMIM	231	309
HP:0001251	HP:0001310	Dysmetria	1	SACS	26278	270550	Spastic ataxia Charlevoix-Saguenay type	C1849140	OMIM	231	309
HP:0001251	HP:0001310	Dysmetria	1	SAMD9L	219285	159550	Myelocerebellar disorder	C1327919	OMIM	5	4
HP:0001251	HP:0002066	Gait ataxia	1	SCARB2	950	254900	Epilepsy, progressive myoclonic 4, with or without renal failure	C0751779	OMIM	23	77
HP:0001251	HP:0002066	Gait ataxia	1	SCYL1	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	C4225236	OMIM	6	5
HP:0001251	HP:0002070	Limb ataxia	1	SETX	23064	606002	Spinocerebellar ataxia autosomal recessive 1	C1853761	OMIM	189	162
HP:0001251	HP:0001310	Dysmetria	1	SFXN4	119559	615578	Combined oxidative phosphorylation deficiency 18	C3810001	OMIM	4	17
HP:0001251	HP:0002066	Gait ataxia	1	SIL1	64374	248800	Marinesco-Sjögren syndrome	C0024814	OMIM	49	67
HP:0001251	HP:0002070	Limb ataxia	1	SIL1	64374	248800	Marinesco-Sjögren syndrome	C0024814	OMIM	49	67
HP:0001251	HP:0002075	Dysdiadochokinesis	1	SLC18A2	6571	352649	Brain dopamine-serotonin vesicular transport disease		ORPHA	5	2
HP:0001251	HP:0002066	Gait ataxia	1	SLC19A3	80704	607483	Basal ganglia disease, biotin-responsive	C1843807	OMIM	24	110
HP:0001251	HP:0002078	Truncal ataxia	1	SLC1A3	6507	612656	Episodic ataxia, type 6	C2675211	OMIM	10	63
HP:0001251	HP:0002131	Episodic ataxia	1	SLC1A3	6507	612656	Episodic ataxia, type 6	C2675211	OMIM	10	63
HP:0001251	HP:0002075	Dysdiadochokinesis	1	SLC20A2	6575	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	62	70
HP:0001251	HP:0002131	Episodic ataxia	1	SLC6A19	340024	234500	Neutral 1 amino acid transport defect	C0018609	OMIM	25	12
HP:0001251	HP:0002070	Limb ataxia	1	SLC9A1	6548	616291	Lichtenstein-knorr syndrome	C4225383	OMIM	6	2
HP:0001251	HP:0001310	Dysmetria	1	SLC9A1	6548	616291	Lichtenstein-knorr syndrome	C4225383	OMIM	6	2
HP:0001251	HP:0002075	Dysdiadochokinesis	1	SLC9A1	6548	616291	Lichtenstein-knorr syndrome	C4225383	OMIM	6	2
HP:0001251	HP:0002066	Gait ataxia	1	SLC9A1	6548	616291	Lichtenstein-knorr syndrome	C4225383	OMIM	6	2
HP:0001251	HP:0002066	Gait ataxia	1	SLC9A6	10479	85278	Christianson syndrome		ORPHA	18	93
HP:0001251	HP:0002078	Truncal ataxia	1	SLC9A6	10479	85278	Christianson syndrome		ORPHA	18	93
HP:0001251	HP:0002078	Truncal ataxia	1	SLC9A6	10479	300243	Christianson syndrome	C2678194	OMIM	18	93
HP:0001251	HP:0001310	Dysmetria	1	SPG20	23111	275900	Troyer syndrome	C0393559	OMIM	4
HP:0001251	HP:0002066	Gait ataxia	1	SPG7	6687	607259	Spastic paraplegia 7	C1846564	OMIM	104	171
HP:0001251	HP:0002075	Dysdiadochokinesis	1	SPTBN2	6712	600224	Spinocerebellar ataxia 5	C0752123	OMIM	15	126
HP:0001251	HP:0002066	Gait ataxia	1	SPTBN2	6712	600224	Spinocerebellar ataxia 5	C0752123	OMIM	15	126
HP:0001251	HP:0002070	Limb ataxia	1	SPTBN2	6712	600224	Spinocerebellar ataxia 5	C0752123	OMIM	15	126
HP:0001251	HP:0001310	Dysmetria	1	SPTBN2	6712	600224	Spinocerebellar ataxia 5	C0752123	OMIM	15	126
HP:0001251	HP:0002075	Dysdiadochokinesis	1	SPTBN2	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	C3809327	OMIM	15	126
HP:0001251	HP:0001310	Dysmetria	1	SPTBN2	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	C3809327	OMIM	15	126
HP:0001251	HP:0002066	Gait ataxia	1	SPTBN2	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	C3809327	OMIM	15	126
HP:0001251	HP:0002078	Truncal ataxia	1	STUB1	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	C4014261	OMIM	22	14
HP:0001251	HP:0002070	Limb ataxia	1	STUB1	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	C4014261	OMIM	22	14
HP:0001251	HP:0002066	Gait ataxia	1	SYNE1	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	C1853116	OMIM	114	1129
HP:0001251	HP:0002070	Limb ataxia	1	SYNE1	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	C1853116	OMIM	114	1129
HP:0001251	HP:0001310	Dysmetria	1	SYNE1	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	C1853116	OMIM	114	1129
HP:0001251	HP:0002066	Gait ataxia	1	SYNJ1	8867	391411	Atypical juvenile parkinsonism		ORPHA	22	9
HP:0001251	HP:0002078	Truncal ataxia	1	SYT14	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	C3280226	OMIM	2	4
HP:0001251	HP:0002070	Limb ataxia	1	SYT14	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	C3280226	OMIM	2	4
HP:0001251	HP:0001310	Dysmetria	1	TBL2	26608	904	Blepharophimosis nasal groove growth retardation		ORPHA
HP:0001251	HP:0001310	Dysmetria	1	TBP	6908	607136	Spinocerebellar ataxia 17	C1846707	OMIM	17	7
HP:0001251	HP:0002066	Gait ataxia	1	TBP	6908	607136	Spinocerebellar ataxia 17	C1846707	OMIM	17	7
HP:0001251	HP:0002070	Limb ataxia	1	TBP	6908	607136	Spinocerebellar ataxia 17	C1846707	OMIM	17	7
HP:0001251	HP:0002066	Gait ataxia	1	TBX18	9096	143100	Huntington's chorea	C0020179	OMIM	8	5
HP:0001251	HP:0002066	Gait ataxia	1	TCF4	6925	610954	Pitt-Hopkins syndrome	C1970431	OMIM	132	241
HP:0001251	HP:0001310	Dysmetria	1	TCTN2	79867	616654	Joubert syndrome 24	C4084841	OMIM	13	76
HP:0001251	HP:0002066	Gait ataxia	1	TECPR2	9895	615031	Spastic paraplegia 49, autosomal recessive	C3542549	OMIM	5	39
HP:0001251	HP:0001310	Dysmetria	1	TECPR2	9895	615031	Spastic paraplegia 49, autosomal recessive	C3542549	OMIM	5	39
HP:0001251	HP:0001310	Dysmetria	1	TGM6	343641	613908	Spinocerebellar ataxia 35	C3888031	OMIM	12	58
HP:0001251	HP:0002066	Gait ataxia	1	TH	7054	605407	Segawa syndrome, autosomal recessive	C1854299	OMIM	67	80
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	TMEM240	339453	607454	Spinocerebellar ataxia 21	C1843891	OMIM	6	9
HP:0001251	HP:0002066	Gait ataxia	1	TMEM240	339453	607454	Spinocerebellar ataxia 21	C1843891	OMIM	6	9
HP:0001251	HP:0002070	Limb ataxia	1	TMEM240	339453	607454	Spinocerebellar ataxia 21	C1843891	OMIM	6	9
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	TTBK2	146057	604432	Spinocerebellar ataxia 11	C1858351	OMIM	7	57
HP:0001251	HP:0002075	Dysdiadochokinesis	1	TTC19	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	C3554605	OMIM	9	88
HP:0001251	HP:0001310	Dysmetria	1	TTC19	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	C3554605	OMIM	9	88
HP:0001251	HP:0001310	Dysmetria	1	TTPA	7274	96	Ataxia with vitamin E deficiency		ORPHA	28	62
HP:0001251	HP:0002075	Dysdiadochokinesis	1	TTPA	7274	96	Ataxia with vitamin E deficiency		ORPHA	28	62
HP:0001251	HP:0001310	Dysmetria	1	UCHL1	7345	615491	Neurodegeneration with optic atrophy, childhood-onset	C3809665	OMIM	5	21
HP:0001251	HP:0002066	Gait ataxia	1	UROC1	131669	210128	Urocanic aciduria		ORPHA	3	8
HP:0001251	HP:0002078	Truncal ataxia	1	UROC1	131669	210128	Urocanic aciduria		ORPHA	3	8
HP:0001251	HP:0002497	Spastic ataxia	1	VAMP1	6843	108600	Ataxia, spastic, 1, autosomal dominant	C1970107	OMIM	4	2
HP:0001251	HP:0002075	Dysdiadochokinesis	1	VLDLR	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	CN074243	OMIM	27	111
HP:0001251	HP:0001310	Dysmetria	1	VLDLR	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	CN074243	OMIM	27	111
HP:0001251	HP:0002078	Truncal ataxia	1	VLDLR	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	CN074243	OMIM	27	111
HP:0001251	HP:0002066	Gait ataxia	1	VLDLR	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	CN074243	OMIM	27	111
HP:0001251	HP:0002075	Dysdiadochokinesis	1	WDR81	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	C2750234	OMIM	3	27
HP:0001251	HP:0002078	Truncal ataxia	1	WDR81	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	C2750234	OMIM	3	27
HP:0001251	HP:0001310	Dysmetria	1	WDR81	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	C2750234	OMIM	3	27
HP:0001251	HP:0002073	Progressive cerebellar ataxia	1	WFS1	7466	411590	Wolfram-like syndrome		ORPHA	353	389
HP:0001251	HP:0002066	Gait ataxia	1	WWOX	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	C3280452	OMIM	39	149
HP:0001251	HP:0002070	Limb ataxia	1	WWOX	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	C3280452	OMIM	39	149
HP:0001251	HP:0001310	Dysmetria	1	XRCC4	7518	616541	Short stature, microcephaly, and endocrine dysfunction	C4225288	OMIM	15	9
HP:0001251	HP:0002075	Dysdiadochokinesis	1	XRCC4	7518	616541	Short stature, microcephaly, and endocrine dysfunction	C4225288	OMIM	15	9
HP:0001251	HP:0012651	Abasia	2
HP:0001251	HP:0010868	Ocular dyssynergia	2
HP:0001251	HP:0010869	Asynergia	2
HP:0001251	HP:0002406	Limb dysmetria	2	GBA2	57704	614409	Spastic paraplegia 46, autosomal recessive	C2828721	OMIM	15	30
HP:0001251	HP:0002406	Limb dysmetria	2	KCNC3	3748	605259	Spinocerebellar ataxia 13	C1854488	OMIM	8	17
HP:0001251	HP:0002406	Limb dysmetria	2	PDGFB	5155	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	17	9
HP:0001251	HP:0002406	Limb dysmetria	2	PDGFRB	5159	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	11	28
HP:0001251	HP:0007240	Progressive gait ataxia	2	POLG	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	C1843851	OMIM	277	464
HP:0001251	HP:0007240	Progressive gait ataxia	2	SACS	26278	270550	Spastic ataxia Charlevoix-Saguenay type	C1849140	OMIM	231	309
HP:0001251	HP:0007221	Progressive truncal ataxia	2	SACS	26278	270550	Spastic ataxia Charlevoix-Saguenay type	C1849140	OMIM	231	309
HP:0001251	HP:0007240	Progressive gait ataxia	2	SETX	23064	606002	Spinocerebellar ataxia autosomal recessive 1	C1853761	OMIM	189	162
HP:0001251	HP:0002406	Limb dysmetria	2	SLC20A2	6575	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	62	70
HP:0001251	HP:0007240	Progressive gait ataxia	2	TWNK	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	C1843851	OMIM	74	113
HP:0001251	HP:0007240	Progressive gait ataxia	2	UBE3A	7337	105830	Angelman syndrome	C0162635	OMIM	179	278
HP:0001251	HP:0020036	Upper limb dysmetria	3
HP:0001251	HP:0020035	Lower limb dysmetria	3

Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (441) :AAAS AARS2 ABCB7 ABCC8 ABCD1 ABHD12 ABHD5 ACO2 ADA2 ADGRG1 ADSL AFG3L2 AHI1 AKT1 ALDH5A1 ALG6 ANO10 ANOS1 APOB APOPT1 APTX ARL13B ARSA ASL ASS1 ATCAY ATM ATP1A2 ATP1A3 ATP6 ATP8 ATP8A2 ATPAF2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH B9D1 BAZ1B BBS1 BBS4 BCKDHA BCKDHB BCS1L BEAN1 BSCL2 BTD C12ORF65 C19ORF12 C5ORF42 CA8 CACNA1A CACNB4 CAMTA1 CAV1 CC2D2A CCDC88C CDH23 CEP104 CEP120 CEP290 CEP41 CHAMP1 CHCHD10 CHD2 CIB2 CISD2 CLCN2 CLIP2 CLN6 CLN8 CLRN1 COA5 COG4 COG5 COL18A1 COQ2 COQ8A COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 CP CPS1 CSPP1 CSTB CTC1 CTDP1 CTSD CTSF CUL4B CWF19L1 CYP27A1 CYTB DARS2 DBT DCX DHFR DLAT DLD DMXL2 DNAJC19 DNAJC3 DNAJC6 DNMT1 DPM1 EDNRB EEF2 ELN ELOVL4 ELOVL5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ETHE1 FA2H FASTKD2 FGF14 FMR1 FOXRED1 FTL FXN GABRA1 GABRG2 GAMT GBA GBA2 GCH1 GFAP GJA1 GJC2 GLB1 GMPPB GOSR2 GPI GRID2 GRM1 GRN GSS GTF2I GTF2IRD1 HARS HEPACAM HEXB HIBCH HSD17B4 HTRA1 HTT HYLS1 IFT140 IKBKAP INPP5E ITM2B ITPR1 KCNA1 KCNA2 KCNC3 KCND3 KCNJ10 KCTD7 KIAA0556 KIAA0586 KIF1A KIF1C KLLN LETM1 LIMK1 LMBRD1 LMNB1 LMNB2 LRPPRC MAG MAN2B1 MARS2 MBD5 MCOLN1 MECP2 MFSD8 MKKS MKS1 MLC1 MMADHC MPDU1 MPV17 MPZ MRE11 MTPAP MTTP MVK MYO5A MYO7A NANS NAT8L ND1 ND2 ND4 ND4L ND5 ND6 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NELFA NEU1 NF2 NKX2-1 NME1 NOP56 NPC1 NPC2 NPHP1 NSD2 NUBPL OFD1 OGDH OPA1 OPA3 OPHN1 OTC PANK2 PAX6 PCDH15 PCDH19 PCNA PDE8B PDGFB PDGFRB PDHA1 PDHX PDP1 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGK1 PGM3 PHYH PIK3CA PIK3R5 PLA2G6 PLP1 PMM2 PMP22 PMPCA PNKP PNP PNPLA6 PNPLA8 POLG POLR1C POLR3A POLR3B PPP2R2B PPT1 PRF1 PRICKLE1 PRICKLE2 PRKCG PRNP PRPS1 PRRT2 PSAP PTEN PTRH2 PTS RAD50 RARS RFC2 RFT1 RNF168 RNF216 RNR1 ROGDI RPGRIP1L RPIA RRM2B RUBCN SACS SAMD9L SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SETX SFXN4 SIL1 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A3 SLC20A2 SLC39A4 SLC46A1 SLC52A2 SLC6A1 SLC6A19 SLC6A8 SLC9A1 SLC9A6 SMARCB1 SNAP25 SNAP29 SNORD118 SNX14 SOX10 SPG11 SPG20 SPG7 SPR SPTBN2 STUB1 STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SURF1 SYNE1 SYNJ1 SYT14 TACO1 TBL2 TBP TBX18 TCF4 TCN2 TCTN1 TCTN2 TDP1 TECPR2 TERC TERT TGM6 TH TINF2 TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM70 TPK1 TPP1 TRAPPC11 TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNW TSFM TTBK2 TTC19 TTPA TTR TUBA1A TUBB TWNK UBE3A UCHL1 UQCRQ UROC1 USH1C USH1G VAMP1 VHL VLDLR VPS13A VRK1 WDR73 WDR81 WFS1 WWOX XPA XRCC4 ZFYVE26 ZNF423 ZNF592

Diseases (395) :231550 615889 240800 275630 614559 615688 475 608629 220493 201 22 271980 603147 308700 615558 220110 208920 1168 250100 207900 23 215700 100 208900 569 614820 535000 551500 480 1766 604273 250950 209900 248600 256000 124000 117210 615924 79241 253260 1239 613559 614298 614615 613227 141500 216360 1454 2318 231169 610188 614464 615911 1942 3463 204300 600143 231183 613489 267750 607426 612016 550 48818 604290 237300 615636 254800 612199 604168 610127 615362 213700 611105 300067 613839 245348 246900 616113 604121 608799 277580 278730 220295 610651 133540 278800 216400 602473 252010 606159 33069 612736 77261 231000 203450 2710 164200 608804 230600 615350 614018 613470 614706 266130 604004 613925 268800 600142 266920 1764 213300 117300 206700 1065 972 616366 199343 280 79284 99027 169500 220111 228402 156200 578 300260 300055 778 610951 609180 256810 200100 14 29 79476 610442 551 812 637 610978 256700 257220 607625 609583 220497 2750 31 210000 258501 67047 234200 615919 245349 772 614871 614877 614863 266500 773 300653 615816 256600 312080 212065 1170 213200 616267 613179 1180 215470 1173 245800 726 613662 203700 88637 256730 603553 600072 301835 1187 300661 31709 65285 616263 261640 613078 612015 611943 212840 226750 611560 608611 615705 2585 159550 607208 252011 615905 300523 59 604369 201100 229050 614707 2116 52503 99966 616330 66631 614561 616354 163746 609136 2822 604360 612716 1933 245400 272200 272300 88644 275350 607250 127550 613990 268130 608091 614424 610688 614052 614458 204500 615356 545000 1349 610505 277460 105210 611603 615771 1186 271245 616138 615159 276880 892 2388 607596 83472 222300 278700 270700 301310 300100 612674 606854 103050 614487 610246 613728 601238 602481 601338 615268 164400 603516 183090 109150 164500 608768 904 108500 183086 613855 614756 606721 616053 616579 615651 613612 48431 300354 616127 610198 616192 391411 609306 1955 615957 75857 612319 609307 300623 93256 95 229300 128230 613206 616204 614831 614504 250620 233400 143100 160120 605259 607346 612780 611726 610357 611302 616540 616680 248500 611390 312750 277410 180800 604391 613672 610377 614063 256550 614153 300486 137831 311250 228169 609161 213600 312170 608782 610245 614867 615217 610217 312920 251950 157640 258450 607694 614381 604326 612437 613832 605361 137440 603218 123400 249900 616140 612075 270550 254900 616719 606002 615578 248800 352649 607483 612656 234500 616291 85278 300243 275900 607259 600224 615386 615768 610743 614229 607136 610954 616654 615031 613908 605407 607454 604432 615157 96 615491 210128 108600 224050 610185 411590 614322 616541 614409 607459 105830

Child Nodes:

........

Dysmetria (HP:0001310)

................... HP:0002406 Limb dysmetria

........

Gait ataxia (HP:0002066)

................... HP:0007240 Progressive gait ataxia
................... HP:0012651 Abasia

........

Limb ataxia (HP:0002070)

........

Progressive cerebellar ataxia (HP:0002073)

........

Dysdiadochokinesis (HP:0002075)

........

Truncal ataxia (HP:0002078)

................... HP:0007221 Progressive truncal ataxia

........

Episodic ataxia (HP:0002131)

........

Nonprogressive cerebellar ataxia (HP:0002470)

........

Spastic ataxia (HP:0002497)

........

Cerebellar ataxia associated with quadrupedal gait (HP:0009878)

........

Dyssynergia (HP:0010867)

................... HP:0010868 Ocular dyssynergia
................... HP:0010869 Asynergia

Sister Nodes:

Abnormal morphology of the cerebellar cortex (HP:0031422)

Abnormality of the dentate nucleus (HP:0100321)

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Cerebellar atrophy (HP:0001272)

Cerebellar calcifications (HP:0007352)

Cerebellar dysplasia (HP:0007033)

Cerebellar edema (HP:0030915)

Cerebellar gliosis (HP:0012698)

Cerebellar hemangioblastoma (HP:0006880)

Cerebellar malformation (HP:0002438)

Dysplastic gangliocytoma of the cerebellum (HP:0500009)

Enlarged cerebellum (HP:0012081)

Fusion of the cerebellar hemispheres (HP:0006899)

Olivopontocerebellar atrophy (HP:0002542)

Recurrent subcortical infarcts (HP:0007236)

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen