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:0002078	HP:0002078	Truncal ataxia	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	1220	61	300371
HP:0002078	HP:0002078	Truncal ataxia	0	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0002078	HP:0002078	Truncal ataxia	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0002078	HP:0002078	Truncal ataxia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0002078	HP:0002078	Truncal ataxia	0	ATCAY CL E G H	85300	94122				ORPHA	1	178	779	608179
HP:0002078	HP:0002078	Truncal ataxia	0	ATG5 CL E G H	9474	617584	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	617584	C4539808	OMIM	1	34	589	604261
HP:0002078	HP:0002078	Truncal ataxia	0	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002078	HP:0002078	Truncal ataxia	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	790	801	182350
HP:0002078	HP:0002078	Truncal ataxia	0	ATP2B3 CL E G H	492	314978				ORPHA	1	301	816	300014
HP:0002078	HP:0002078	Truncal ataxia	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0002078	HP:0002078	Truncal ataxia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0002078	HP:0002078	Truncal ataxia	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0002078	HP:0002078	Truncal ataxia	0	CACNB4 CL E G H	785	211067				ORPHA	1	312	1404	601949
HP:0002078	HP:0002078	Truncal ataxia	0	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	305	26690	613446
HP:0002078	HP:0002078	Truncal ataxia	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0002078	HP:0002078	Truncal ataxia	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	66	25613	616120
HP:0002078	HP:0002078	Truncal ataxia	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	66	25613	616120
HP:0002078	HP:0002078	Truncal ataxia	0	DAB1 CL E G H	1600	363710				ORPHA	1	82	2661	603448
HP:0002078	HP:0002078	Truncal ataxia	0	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0002078	HP:0002078	Truncal ataxia	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0002078	HP:0002078	Truncal ataxia	0	FGF14 CL E G H	2259	98764				ORPHA	1	208	3671	601515
HP:0002078	HP:0002078	Truncal ataxia	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0002078	HP:0002078	Truncal ataxia	0	GRID2 CL E G H	2895	363432				ORPHA	1	158	4576	602368
HP:0002078	HP:0002078	Truncal ataxia	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	158	4576	602368
HP:0002078	HP:0002078	Truncal ataxia	0	HARS CL E G H	3035	614504	Usher syndrome, type 3B	614504	C3281066	OMIM	1		4816	142810
HP:0002078	HP:0002078	Truncal ataxia	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0002078	HP:0002078	Truncal ataxia	0	KCND3 CL E G H	3752	98772				ORPHA	1	399	6239	605411
HP:0002078	HP:0002078	Truncal ataxia	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0002078	HP:0002078	Truncal ataxia	0	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	1	381	21957	611725
HP:0002078	HP:0002078	Truncal ataxia	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1778	6990	300005
HP:0002078	HP:0002078	Truncal ataxia	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	85	29678	617619
HP:0002078	HP:0002078	Truncal ataxia	0	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	145	26742	610647
HP:0002078	HP:0002078	Truncal 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:0002078	HP:0002078	Truncal ataxia	0	NOP56 CL E G H	10528	276198				ORPHA	1	42	15911	614154
HP:0002078	HP:0002078	Truncal ataxia	0	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0002078	HP:0002078	Truncal ataxia	0	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	785	30074	614258
HP:0002078	HP:0002078	Truncal ataxia	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0002078	HP:0002078	Truncal ataxia	0	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	1	206	10941	600111
HP:0002078	HP:0002078	Truncal ataxia	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	536	11079	300231
HP:0002078	HP:0002078	Truncal ataxia	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	536	11079	300231
HP:0002078	HP:0002078	Truncal ataxia	0	SPTBN2 CL E G H	6712	352403				ORPHA	1	716	11276	604985
HP:0002078	HP:0002078	Truncal ataxia	0	STUB1 CL E G H	10273	412057				ORPHA	1	170	11427	607207
HP:0002078	HP:0002078	Truncal ataxia	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0002078	HP:0002078	Truncal ataxia	0	SYT14 CL E G H	255928	284271				ORPHA	1	92	23143	610949
HP:0002078	HP:0002078	Truncal ataxia	0	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0002078	HP:0002078	Truncal ataxia	0	TRAPPC11 CL E G H	60684	369847				ORPHA	1	774	25751	614138
HP:0002078	HP:0002078	Truncal ataxia	0	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002078	HP:0002078	Truncal ataxia	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	507	12698	192977
HP:0002078	HP:0002078	Truncal ataxia	0	VWA3B CL E G H	200403	616948	Spinocerebellar ataxia, autosomal recessive 22	616948	C4310781	OMIM	1	63	28385	614884
HP:0002078	HP:0002078	Truncal ataxia	0	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	266	26600	614218
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	1220	61	300371
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0002078	HP:0007221	Progressive truncal ataxia	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATCAY CL E G H	85300	94122				ORPHA	1	178	779	608179
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATG5 CL E G H	9474	617584	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	617584	C4539808	OMIM	1	34	589	604261
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	790	801	182350
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATP2B3 CL E G H	492	314978				ORPHA	1	301	816	300014
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0002078	HP:0007221	Progressive truncal ataxia	1	CACNB4 CL E G H	785	211067				ORPHA	1	312	1404	601949
HP:0002078	HP:0007221	Progressive truncal ataxia	1	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	305	26690	613446
HP:0002078	HP:0007221	Progressive truncal ataxia	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0002078	HP:0007221	Progressive truncal ataxia	1	CWF19L1 CL E G H	55280	453521				ORPHA	1	66	25613	616120
HP:0002078	HP:0007221	Progressive truncal ataxia	1	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	66	25613	616120
HP:0002078	HP:0007221	Progressive truncal ataxia	1	DAB1 CL E G H	1600	363710				ORPHA	1	82	2661	603448
HP:0002078	HP:0007221	Progressive truncal ataxia	1	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0002078	HP:0007221	Progressive truncal ataxia	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0002078	HP:0007221	Progressive truncal ataxia	1	FGF14 CL E G H	2259	98764				ORPHA	1	208	3671	601515
HP:0002078	HP:0007221	Progressive truncal ataxia	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0002078	HP:0007221	Progressive truncal ataxia	1	GRID2 CL E G H	2895	363432				ORPHA	1	158	4576	602368
HP:0002078	HP:0007221	Progressive truncal ataxia	1	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	158	4576	602368
HP:0002078	HP:0007221	Progressive truncal ataxia	1	HARS CL E G H	3035	614504	Usher syndrome, type 3B	614504	C3281066	OMIM	1		4816	142810
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0002078	HP:0007221	Progressive truncal ataxia	1	KCND3 CL E G H	3752	98772				ORPHA	1	399	6239	605411
HP:0002078	HP:0007221	Progressive truncal ataxia	1	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0002078	HP:0007221	Progressive truncal ataxia	1	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	1	381	21957	611725
HP:0002078	HP:0007221	Progressive truncal ataxia	1	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1778	6990	300005
HP:0002078	HP:0007221	Progressive truncal ataxia	1	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	85	29678	617619
HP:0002078	HP:0007221	Progressive truncal ataxia	1	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	145	26742	610647
HP:0002078	HP:0007221	Progressive truncal ataxia	1	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0002078	HP:0007221	Progressive truncal ataxia	1	NOP56 CL E G H	10528	276198				ORPHA	1	42	15911	614154
HP:0002078	HP:0007221	Progressive truncal ataxia	1	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0002078	HP:0007221	Progressive truncal ataxia	1	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	785	30074	614258
HP:0002078	HP:0007221	Progressive truncal ataxia	1	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	1	206	10941	600111
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	536	11079	300231
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	536	11079	300231
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SPTBN2 CL E G H	6712	352403				ORPHA	1	716	11276	604985
HP:0002078	HP:0007221	Progressive truncal ataxia	1	STUB1 CL E G H	10273	412057				ORPHA	1	170	11427	607207
HP:0002078	HP:0007221	Progressive truncal ataxia	1	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SYT14 CL E G H	255928	284271				ORPHA	1	92	23143	610949
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0002078	HP:0007221	Progressive truncal ataxia	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	774	25751	614138
HP:0002078	HP:0007221	Progressive truncal ataxia	1	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002078	HP:0007221	Progressive truncal ataxia	1	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	507	12698	192977
HP:0002078	HP:0007221	Progressive truncal ataxia	1	VWA3B CL E G H	200403	616948	Spinocerebellar ataxia, autosomal recessive 22	616948	C4310781	OMIM	1	63	28385	614884
HP:0002078	HP:0007221	Progressive truncal ataxia	1	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	266	26600	614218
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002078	HP:0002078	Truncal ataxia	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	0	625	4512	604110
HP:0002078	HP:0002078	Truncal ataxia	0	CYP7B1 CL E G H	9420	100986				ORPHA	0	333	2652	603711
HP:0002078	HP:0002078	Truncal ataxia	0	GBA2 CL E G H	57704	352641				ORPHA	0	277	18986	609471
HP:0002078	HP:0002078	Truncal ataxia	0	GBA2 CL E G H	57704	320391				ORPHA	0	277	18986	609471
HP:0002078	HP:0002078	Truncal ataxia	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	42	15911	614154
HP:0002078	HP:0002078	Truncal ataxia	0	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	40	14951	613257
HP:0002078	HP:0002078	Truncal ataxia	0	SLC30A10 CL E G H	55532	309854				ORPHA	0	188	25355	611146
HP:0002078	HP:0002078	Truncal ataxia	0	TRAPPC11 CL E G H	60684	369840				ORPHA	0	774	25751	614138
HP:0002078	HP:0007221	Progressive truncal ataxia	1	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	0	625	4512	604110
HP:0002078	HP:0007221	Progressive truncal ataxia	1	CYP7B1 CL E G H	9420	100986				ORPHA	0	333	2652	603711
HP:0002078	HP:0007221	Progressive truncal ataxia	1	GBA2 CL E G H	57704	320391				ORPHA	0	277	18986	609471
HP:0002078	HP:0007221	Progressive truncal ataxia	1	GBA2 CL E G H	57704	352641				ORPHA	0	277	18986	609471
HP:0002078	HP:0007221	Progressive truncal ataxia	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	42	15911	614154
HP:0002078	HP:0007221	Progressive truncal ataxia	1	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	40	14951	613257
HP:0002078	HP:0007221	Progressive truncal ataxia	1	SLC30A10 CL E G H	55532	309854				ORPHA	0	188	25355	611146
HP:0002078	HP:0007221	Progressive truncal ataxia	1	TRAPPC11 CL E G H	60684	369840				ORPHA	0	774	25751	614138