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:0002073	HP:0002073	Progressive cerebellar ataxia	0	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATP13A2 CL E G H	23400	513436				ORPHA	1	974	30213	610513
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	610	18481	611716
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN1 CL E G H	6310	98755				ORPHA	1	120	10548	601556
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN10 CL E G H	25814	98761				ORPHA	1	116	10549	611150
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	116	10549	611150
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	276244				ORPHA	1	65	7106	607047
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	276241				ORPHA	1	65	7106	607047
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	276238				ORPHA	1	65	7106	607047
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	87	10561	603680
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CACNA1A CL E G H	773	98758				ORPHA	1	3248	1388	601011
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	3248	1388	601011
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	3248	1388	601011
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COQ2 CL E G H	27235	227510				ORPHA	1	346	25223	609825
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	DKK1 CL E G H	22943	268882				ORPHA	1	34	2891	605189
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	EEF2 CL E G H	1938	101112				ORPHA	1	319	3214	130610
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ELOVL4 CL E G H	6785	1955				ORPHA	1	297	14415	605512
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	GBA2 CL E G H	57704	352641				ORPHA	1	355	18986	609471
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	860	4283	304040
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	311	6235	176264
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	467	6239	605411
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MARS2 CL E G H	92935	314603				ORPHA	1	204	25133	609728
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MTPAP CL E G H	55149	254343				ORPHA	1	346	25532	613669
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	570	7530	251170
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PDYN CL E G H	5173	101108				ORPHA	1	200	8820	131340
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PEX10 CL E G H	5192	247815				ORPHA	1	803	8851	602859
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PEX6 CL E G H	5190	95433				ORPHA	1	1458	8859	601498
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	71	9305	604325
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRDM8 CL E G H	56978	616640	Epilepsy, progressive myoclonic, 10	616640	C4225258	OMIM	1	439	13993	616639
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRKCG CL E G H	5582	98763				ORPHA	1	323	9402	176980
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRKCG CL E G H	5582	605361	Spinocerebellar ataxia 14	605361	C1854369	OMIM	1	323	9402	176980
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRNP CL E G H	5621	282166				ORPHA	1	191	9449	176640
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SACS CL E G H	26278	98				ORPHA	1	3377	10519	604490
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SCYL1 CL E G H	57410	466794				ORPHA	1	128	14372	607982
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SLC52A2 CL E G H	79581	95433				ORPHA	1	520	30224	607882
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SPTBN2 CL E G H	6712	352403				ORPHA	1	938	11276	604985
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TGM6 CL E G H	343641	276193				ORPHA	1	393	16255	613900
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TMEM240 CL E G H	339453	98773				ORPHA	1	237	25186	616101
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	237	25186	616101
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TPP1 CL E G H	1200	284324				ORPHA	1	1023	2073	607998
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TTBK2 CL E G H	146057	98767				ORPHA	1	338	19141	611695
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TTBK2 CL E G H	146057	604432	Spinocerebellar ataxia 11	604432	C1858351	OMIM	1	338	19141	611695
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	WFS1 CL E G H	7466	411590				ORPHA	1	1634	12762	606201
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	0	98	10560	607640
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	AUH CL E G H	549	67046				ORPHA	0	249	890	600529
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COQ2 CL E G H	27235	98933				ORPHA	0	346	25223	609825
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	HTT CL E G H	3064	248111				ORPHA	0	760	4851	613004
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	KCTD7 CL E G H	154881	263516				ORPHA	0	427	21957	611725
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MME CL E G H	4311	497764				ORPHA	0	577	7154	120520
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025