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:0001138	HP:0001138	Optic neuropathy	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	67
HP:0001138	HP:0001138	Optic neuropathy	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	76
HP:0001138	HP:0001138	Optic neuropathy	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0001138	HP:0001138	Optic neuropathy	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	356
HP:0001138	HP:0001138	Optic neuropathy	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0001138	HP:0001138	Optic neuropathy	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0001138	HP:0001138	Optic neuropathy	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0001138	HP:0001138	Optic neuropathy	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	HP:0040283 - Occasional	44
HP:0001138	HP:0001138	Optic neuropathy	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	101
HP:0001138	HP:0001138	Optic neuropathy	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0001138	HP:0001138	Optic neuropathy	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	54
HP:0001138	HP:0001138	Optic neuropathy	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0001138	HP:0001138	Optic neuropathy	0	GP1BA CL E G H	2811	4439	OMIM:258660	Nonarteritic anterior ischemic optic neuropathy, susceptibility to		23
HP:0001138	HP:0001138	Optic neuropathy	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	HP:0040283 - Occasional	2
HP:0001138	HP:0001138	Optic neuropathy	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	2157
HP:0001138	HP:0001138	Optic neuropathy	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	73
HP:0001138	HP:0001138	Optic neuropathy	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	47
HP:0001138	HP:0001138	Optic neuropathy	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	HP:0040282 - Frequent
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0001138	HP:0001138	Optic neuropathy	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0001138	HP:0001138	Optic neuropathy	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0001138	HP:0001138	Optic neuropathy	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	178
HP:0001138	HP:0001138	Optic neuropathy	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0001138	HP:0001138	Optic neuropathy	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0001138	HP:0001138	Optic neuropathy	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0001138	HP:0001138	Optic neuropathy	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001138	HP:0001138	Optic neuropathy	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001138	HP:0001138	Optic neuropathy	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0001138	HP:0001138	Optic neuropathy	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	GP1BA CL E G H	2811	4439	OMIM:258660	Nonarteritic anterior ischemic optic neuropathy, susceptibility to	.	23
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144