Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040281 - Very frequent		64
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040281 - Very frequent		16
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent		100
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent		140
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040281 - Very frequent		19
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040281 - Very frequent		9
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040281 - Very frequent		11
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040281 - Very frequent		14
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040281 - Very frequent		14
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040281 - Very frequent		14
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional		49
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent		449
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional		54
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040281 - Very frequent		136
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent		60
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent		4
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040281 - Very frequent		30
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040281 - Very frequent		107
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040283 - Occasional		12
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent		25
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040283 - Occasional		18
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent		19
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.	HP:0011463 - Childhood onset	150
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040281 - Very frequent		52
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040281 - Very frequent		75
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040281 - Very frequent		60
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040282 - Frequent		83
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040281 - Very frequent		126
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040281 - Very frequent		58
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040281 - Very frequent		9
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040281 - Very frequent		203
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.		57
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0002073	HP:0002073	Progressive cerebellar ataxia	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent		389