Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002070	HP:0002070	Limb ataxia	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	1220	61	300371
HP:0002070	HP:0002070	Limb ataxia	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	385	315	604581
HP:0002070	HP:0002070	Limb ataxia	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0002070	HP:0002070	Limb ataxia	0	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0002070	HP:0002070	Limb ataxia	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0002070	HP:0002070	Limb ataxia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0002070	HP:0002070	Limb ataxia	0	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002070	HP:0002070	Limb ataxia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0002070	HP:0002070	Limb ataxia	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0002070	HP:0002070	Limb ataxia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0002070	HP:0002070	Limb ataxia	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0002070	HP:0002070	Limb ataxia	0	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0002070	HP:0002070	Limb ataxia	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0002070	HP:0002070	Limb ataxia	0	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0002070	HP:0002070	Limb ataxia	0	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002070	HP:0002070	Limb ataxia	0	COQ2 CL E G H	27235	227510				ORPHA	1	205	25223	609825
HP:0002070	HP:0002070	Limb ataxia	0	CSTB CL E G H	1476	308				ORPHA	1	245	2482	601145
HP:0002070	HP:0002070	Limb ataxia	0	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0002070	HP:0002070	Limb ataxia	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0002070	HP:0002070	Limb ataxia	0	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	242	14415	605512
HP:0002070	HP:0002070	Limb ataxia	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	63	21308	611805
HP:0002070	HP:0002070	Limb ataxia	0	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0002070	HP:0002070	Limb ataxia	0	FGF12 CL E G H	2257	617166	Epileptic encephalopathy, early infantile, 47	617166	C4310685	OMIM	1	210	3668	601513
HP:0002070	HP:0002070	Limb ataxia	0	FGF14 CL E G H	2259	98764				ORPHA	1	208	3671	601515
HP:0002070	HP:0002070	Limb ataxia	0	FXN CL E G H	2395	95				ORPHA	1	143	3951	606829
HP:0002070	HP:0002070	Limb ataxia	0	FXN CL E G H	2395	229300	Friedreich ataxia 1	229300	C1856689	OMIM	1	143	3951	606829
HP:0002070	HP:0002070	Limb ataxia	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	797	4283	304040
HP:0002070	HP:0002070	Limb ataxia	0	GRID2 CL E G H	2895	363432				ORPHA	1	158	4576	602368
HP:0002070	HP:0002070	Limb ataxia	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0002070	HP:0002070	Limb ataxia	0	ITPR1 CL E G H	3708	117360	Spinocerebellar ataxia 29	117360	C1861732	OMIM	1	1134	6180	147265
HP:0002070	HP:0002070	Limb ataxia	0	KCNC3 CL E G H	3748	98768				ORPHA	1	216	6235	176264
HP:0002070	HP:0002070	Limb ataxia	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	216	6235	176264
HP:0002070	HP:0002070	Limb ataxia	0	KCND3 CL E G H	3752	98772				ORPHA	1	399	6239	605411
HP:0002070	HP:0002070	Limb ataxia	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0002070	HP:0002070	Limb ataxia	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0002070	HP:0002070	Limb ataxia	0	MME CL E G H	4311	497764				ORPHA	1	422	7154	120520
HP:0002070	HP:0002070	Limb ataxia	0	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0002070	HP:0002070	Limb ataxia	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	85	29678	617619
HP:0002070	HP:0002070	Limb ataxia	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0002070	HP:0002070	Limb ataxia	0	NOP56 CL E G H	10528	276198				ORPHA	1	42	15911	614154
HP:0002070	HP:0002070	Limb ataxia	0	PDYN CL E G H	5173	101108				ORPHA	1	167	8820	131340
HP:0002070	HP:0002070	Limb ataxia	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	167	8820	131340
HP:0002070	HP:0002070	Limb ataxia	0	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0002070	HP:0002070	Limb ataxia	0	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0002070	HP:0002070	Limb ataxia	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	140	18667	613036
HP:0002070	HP:0002070	Limb ataxia	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	1917	9179	174763
HP:0002070	HP:0002070	Limb ataxia	0	PRICKLE1 CL E G H	144165	308				ORPHA	1	488	17019	608500
HP:0002070	HP:0002070	Limb ataxia	0	PRKCG CL E G H	5582	98763				ORPHA	1	290	9402	176980
HP:0002070	HP:0002070	Limb ataxia	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0002070	HP:0002070	Limb ataxia	0	RTN2 CL E G H	6253	100993				ORPHA	1	184	10468	603183
HP:0002070	HP:0002070	Limb ataxia	0	RUBCN CL E G H	9711	404499				ORPHA	1	118	28991	613516
HP:0002070	HP:0002070	Limb ataxia	0	SCARB2 CL E G H	950	308				ORPHA	1	422	1665	602257
HP:0002070	HP:0002070	Limb ataxia	0	SCN1B CL E G H	6324	617350	Epileptic encephalopathy, early infantile, 52	617350	C4479236	OMIM	1	444	10586	600235
HP:0002070	HP:0002070	Limb ataxia	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	1290	445	608465
HP:0002070	HP:0002070	Limb ataxia	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	229	24624	608005
HP:0002070	HP:0002070	Limb ataxia	0	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002070	HP:0002070	Limb ataxia	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0002070	HP:0002070	Limb ataxia	0	SQSTM1 CL E G H	8878	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	617145	C4310693	OMIM	1	542	11280	601530
HP:0002070	HP:0002070	Limb ataxia	0	STUB1 CL E G H	10273	412057				ORPHA	1	170	11427	607207
HP:0002070	HP:0002070	Limb ataxia	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0002070	HP:0002070	Limb ataxia	0	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0002070	HP:0002070	Limb ataxia	0	SYT14 CL E G H	255928	284271				ORPHA	1	92	23143	610949
HP:0002070	HP:0002070	Limb ataxia	0	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0002070	HP:0002070	Limb ataxia	0	TBC1D23 CL E G H	55773	617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695	C4540164	OMIM	1	52	25622	617687
HP:0002070	HP:0002070	Limb ataxia	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	116	11588	600075
HP:0002070	HP:0002070	Limb ataxia	0	TGM6 CL E G H	343641	276193				ORPHA	1	289	16255	613900
HP:0002070	HP:0002070	Limb ataxia	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002070	HP:0002070	Limb ataxia	0	TPP1 CL E G H	1200	284324				ORPHA	1	849	2073	607998
HP:0002070	HP:0002070	Limb ataxia	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	849	2073	607998
HP:0002070	HP:0002070	Limb ataxia	0	UBA5 CL E G H	79876	617133	Spinocerebellar ataxia, autosomal recessive 24	617133	C4310699	OMIM	1	157	23230	610552
HP:0002070	HP:0002070	Limb ataxia	0	VAMP1 CL E G H	6843	251282				ORPHA	1	118	12642	185880
HP:0002070	HP:0002070	Limb ataxia	0	WASHC5 CL E G H	9897	100989				ORPHA	1	527	28984	610657
HP:0002070	HP:0002070	Limb ataxia	0	WWOX CL E G H	51741	284282				ORPHA	1	967	12799	605131
HP:0002070	HP:0002070	Limb ataxia	0	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	1	967	12799	605131
HP:0002070	HP:0002070	Limb ataxia	0	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	52	12828	194360
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002070	HP:0002070	Limb ataxia	0	CAPN1 CL E G H	823	488594				ORPHA	0	124	1476	114220
HP:0002070	HP:0002070	Limb ataxia	0	CYP7B1 CL E G H	9420	100986				ORPHA	0	333	2652	603711
HP:0002070	HP:0002070	Limb ataxia	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	208	3671	601515
HP:0002070	HP:0002070	Limb ataxia	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	42	15911	614154