Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002070	HP:0002070	Limb ataxia	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0002070	HP:0002070	Limb ataxia	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0002070	HP:0002070	Limb ataxia	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040281 - Very frequent	86
HP:0002070	HP:0002070	Limb ataxia	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0002070	HP:0002070	Limb ataxia	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0002070	HP:0002070	Limb ataxia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0002070	HP:0002070	Limb ataxia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0002070	HP:0002070	Limb ataxia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0002070	HP:0002070	Limb ataxia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0002070	HP:0002070	Limb ataxia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002070	HP:0002070	Limb ataxia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002070	HP:0002070	Limb ataxia	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0002070	HP:0002070	Limb ataxia	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0002070	HP:0002070	Limb ataxia	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.	1
HP:0002070	HP:0002070	Limb ataxia	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional	4
HP:0002070	HP:0002070	Limb ataxia	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0002070	HP:0002070	Limb ataxia	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	.	44
HP:0002070	HP:0002070	Limb ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002070	HP:0002070	Limb ataxia	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0002070	HP:0002070	Limb ataxia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0002070	HP:0002070	Limb ataxia	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	51
HP:0002070	HP:0002070	Limb ataxia	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002070	HP:0002070	Limb ataxia	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional	9
HP:0002070	HP:0002070	Limb ataxia	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040283 - Occasional	57
HP:0002070	HP:0002070	Limb ataxia	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0002070	HP:0002070	Limb ataxia	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent	4
HP:0002070	HP:0002070	Limb ataxia	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0002070	HP:0002070	Limb ataxia	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0002070	HP:0002070	Limb ataxia	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0002070	HP:0002070	Limb ataxia	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0002070	HP:0002070	Limb ataxia	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0002070	HP:0002070	Limb ataxia	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent	47
HP:0002070	HP:0002070	Limb ataxia	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent	18
HP:0002070	HP:0002070	Limb ataxia	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0002070	HP:0002070	Limb ataxia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002070	HP:0002070	Limb ataxia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0002070	HP:0002070	Limb ataxia	0	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040281 - Very frequent	18
HP:0002070	HP:0002070	Limb ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0002070	HP:0002070	Limb ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0002070	HP:0002070	Limb ataxia	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002070	HP:0002070	Limb ataxia	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0002070	HP:0002070	Limb ataxia	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0002070	HP:0002070	Limb ataxia	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0002070	HP:0002070	Limb ataxia	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent	35
HP:0002070	HP:0002070	Limb ataxia	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0002070	HP:0002070	Limb ataxia	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0002070	HP:0002070	Limb ataxia	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0002070	HP:0002070	Limb ataxia	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0002070	HP:0002070	Limb ataxia	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0002070	HP:0002070	Limb ataxia	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0002070	HP:0002070	Limb ataxia	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0002070	HP:0002070	Limb ataxia	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0002070	HP:0002070	Limb ataxia	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040281 - Very frequent	9
HP:0002070	HP:0002070	Limb ataxia	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0002070	HP:0002070	Limb ataxia	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040281 - Very frequent	52
HP:0002070	HP:0002070	Limb ataxia	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent	75
HP:0002070	HP:0002070	Limb ataxia	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0002070	HP:0002070	Limb ataxia	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0002070	HP:0002070	Limb ataxia	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0002070	HP:0002070	Limb ataxia	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0002070	HP:0002070	Limb ataxia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002070	HP:0002070	Limb ataxia	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0002070	HP:0002070	Limb ataxia	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	133
HP:0002070	HP:0002070	Limb ataxia	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040282 - Frequent	83
HP:0002070	HP:0002070	Limb ataxia	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0002070	HP:0002070	Limb ataxia	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0002070	HP:0002070	Limb ataxia	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0002070	HP:0002070	Limb ataxia	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent	9
HP:0002070	HP:0002070	Limb ataxia	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	77
HP:0002070	HP:0002070	Limb ataxia	0	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.	126
HP:0002070	HP:0002070	Limb ataxia	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0002070	HP:0002070	Limb ataxia	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0002070	HP:0002070	Limb ataxia	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0002070	HP:0002070	Limb ataxia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0002070	HP:0002070	Limb ataxia	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0002070	HP:0002070	Limb ataxia	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0002070	HP:0002070	Limb ataxia	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0002070	HP:0002070	Limb ataxia	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040281 - Very frequent	14
HP:0002070	HP:0002070	Limb ataxia	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0002070	HP:0002070	Limb ataxia	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0002070	HP:0002070	Limb ataxia	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040281 - Very frequent	4
HP:0002070	HP:0002070	Limb ataxia	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.	4
HP:0002070	HP:0002070	Limb ataxia	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0002070	HP:0002070	Limb ataxia	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile		271
HP:0002070	HP:0002070	Limb ataxia	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002070	HP:0002070	Limb ataxia	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0002070	HP:0002070	Limb ataxia	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0002070	HP:0002070	Limb ataxia	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0002070	HP:0002070	Limb ataxia	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0002070	HP:0002070	Limb ataxia	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.	13
HP:0002070	HP:0002070	Limb ataxia	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0002070	HP:0002070	Limb ataxia	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0002070	HP:0002070	Limb ataxia	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0002070	HP:0002070	Limb ataxia	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0002070	HP:0002070	Limb ataxia	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0002070	HP:0002070	Limb ataxia	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002070	HP:0002070	Limb ataxia	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0002070	HP:0002070	Limb ataxia	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent	149
HP:0002070	HP:0002070	Limb ataxia	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.	149
HP:0002070	HP:0002070	Limb ataxia	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4