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:0002180	HP:0002180	Neurodegeneration	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0002180	HP:0002180	Neurodegeneration	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0002180	HP:0002180	Neurodegeneration	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0002180	HP:0002180	Neurodegeneration	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	32
HP:0002180	HP:0002180	Neurodegeneration	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0002180	HP:0002180	Neurodegeneration	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	11
HP:0002180	HP:0002180	Neurodegeneration	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002180	HP:0002180	Neurodegeneration	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002180	HP:0002180	Neurodegeneration	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002180	HP:0002180	Neurodegeneration	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0002180	HP:0002180	Neurodegeneration	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	56
HP:0002180	HP:0002180	Neurodegeneration	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0002180	HP:0002180	Neurodegeneration	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0002180	HP:0002180	Neurodegeneration	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	11
HP:0002180	HP:0002180	Neurodegeneration	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	42
HP:0002180	HP:0002180	Neurodegeneration	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0002180	HP:0002180	Neurodegeneration	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0002180	HP:0002180	Neurodegeneration	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0002180	HP:0002180	Neurodegeneration	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0002180	HP:0002180	Neurodegeneration	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	86
HP:0002180	HP:0002180	Neurodegeneration	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0002180	HP:0002180	Neurodegeneration	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	4
HP:0002180	HP:0002180	Neurodegeneration	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	15
HP:0002180	HP:0002180	Neurodegeneration	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002180	HP:0002180	Neurodegeneration	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0002180	HP:0002180	Neurodegeneration	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	111
HP:0002180	HP:0002180	Neurodegeneration	0	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency	.	47
HP:0002180	HP:0002180	Neurodegeneration	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0002180	HP:0002180	Neurodegeneration	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0002180	HP:0002180	Neurodegeneration	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0002180	HP:0002180	Neurodegeneration	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	45
HP:0002180	HP:0002180	Neurodegeneration	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0002180	HP:0002180	Neurodegeneration	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent	69
HP:0002180	HP:0002180	Neurodegeneration	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0002180	HP:0002180	Neurodegeneration	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0002180	HP:0002180	Neurodegeneration	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	31
HP:0002180	HP:0002180	Neurodegeneration	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent	19
HP:0002180	HP:0002180	Neurodegeneration	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0002180	HP:0002180	Neurodegeneration	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002180	HP:0002180	Neurodegeneration	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0002180	HP:0002180	Neurodegeneration	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0002180	HP:0002180	Neurodegeneration	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002180	HP:0002180	Neurodegeneration	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0002180	HP:0002180	Neurodegeneration	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0002180	HP:0002180	Neurodegeneration	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	80
HP:0002180	HP:0002180	Neurodegeneration	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0002180	HP:0002180	Neurodegeneration	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0002180	HP:0002180	Neurodegeneration	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0002180	HP:0002180	Neurodegeneration	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002180	HP:0002180	Neurodegeneration	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	24
HP:0002180	HP:0002180	Neurodegeneration	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	101
HP:0002180	HP:0002180	Neurodegeneration	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	62
HP:0002180	HP:0002180	Neurodegeneration	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0002180	HP:0002180	Neurodegeneration	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0002180	HP:0002180	Neurodegeneration	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent	1
HP:0002180	HP:0002180	Neurodegeneration	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant		75
HP:0002180	HP:0002180	Neurodegeneration	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0002180	HP:0002180	Neurodegeneration	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0002180	HP:0002180	Neurodegeneration	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0002180	HP:0002180	Neurodegeneration	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	4
HP:0002180	HP:0002180	Neurodegeneration	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	2
HP:0002180	HP:0002180	Neurodegeneration	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0002180	HP:0002180	Neurodegeneration	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0002180	HP:0002180	Neurodegeneration	0	PRNP CL E G H	5621	9449	OMIM:245300	KURU, SUSCEPTIBILITY TO		69
HP:0002180	HP:0002180	Neurodegeneration	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	25
HP:0002180	HP:0002180	Neurodegeneration	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0002180	HP:0002180	Neurodegeneration	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0002180	HP:0002180	Neurodegeneration	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0002180	HP:0002180	Neurodegeneration	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002180	HP:0002180	Neurodegeneration	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0002180	HP:0002180	Neurodegeneration	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0002180	HP:0002180	Neurodegeneration	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	53
HP:0002180	HP:0002180	Neurodegeneration	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002180	HP:0002180	Neurodegeneration	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	62
HP:0002180	HP:0002180	Neurodegeneration	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0002180	HP:0002180	Neurodegeneration	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0002180	HP:0002180	Neurodegeneration	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	65
HP:0002180	HP:0002180	Neurodegeneration	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	20
HP:0002180	HP:0002180	Neurodegeneration	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	31
HP:0002180	HP:0002180	Neurodegeneration	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0002180	HP:0002180	Neurodegeneration	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0002180	HP:0002180	Neurodegeneration	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0002180	HP:0002180	Neurodegeneration	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	20
HP:0002180	HP:0002180	Neurodegeneration	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.	1
HP:0002180	HP:0002180	Neurodegeneration	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0002180	HP:0002180	Neurodegeneration	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0002180	HP:0002180	Neurodegeneration	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	116
HP:0002180	HP:0002180	Neurodegeneration	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	63
HP:0002180	HP:0002180	Neurodegeneration	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0002180	HP:0002180	Neurodegeneration	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002180	HP:0040140	Degeneration of the striatum	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0002180	HP:0040140	Degeneration of the striatum	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0002180	HP:0040140	Degeneration of the striatum	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0002180	HP:0040140	Degeneration of the striatum	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0002180	HP:0040140	Degeneration of the striatum	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0002180	HP:0040140	Degeneration of the striatum	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0002180	HP:0040140	Degeneration of the striatum	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0002180	HP:0002528	Granulovacuolar degeneration	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002180	HP:0040140	Degeneration of the striatum	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0002180	HP:0040140	Degeneration of the striatum	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0002180	HP:0040140	Degeneration of the striatum	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0002180	HP:0040140	Degeneration of the striatum	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0002180	HP:0040140	Degeneration of the striatum	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0002180	HP:0040140	Degeneration of the striatum	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0002180	HP:0040140	Degeneration of the striatum	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0002180	HP:0040140	Degeneration of the striatum	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56