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:0001138	HP:0001138	Optic neuropathy	0	AGXT CL E G H	189	259900	Primary hyperoxaluria, type I	259900	C0268164	OMIM	1	754	341	604285
HP:0001138	HP:0001138	Optic neuropathy	0	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0001138	HP:0001138	Optic neuropathy	0	C12orf65 CL E G H	91574	320375				ORPHA	1		26784	613541
HP:0001138	HP:0001138	Optic neuropathy	0	CISD2 CL E G H	493856	604928	Wolfram syndrome 2	604928	C1858028	OMIM	1	71	24212	611507
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0001138	HP:0001138	Optic neuropathy	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0001138	HP:0001138	Optic neuropathy	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0001138	HP:0001138	Optic neuropathy	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	65	17194	609435
HP:0001138	HP:0001138	Optic neuropathy	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001138	HP:0001138	Optic neuropathy	0	SH3BP2 CL E G H	6452	118400	Fibrous dysplasia of jaw	118400	C0008029	OMIM	1	760	10825	602104
HP:0001138	HP:0001138	Optic neuropathy	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001138	HP:0001138	Optic neuropathy	0	TXN2 CL E G H	25828	478029				ORPHA	1	76	17772	609063
HP:0001138	HP:0001138	Optic neuropathy	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	AGXT CL E G H	189	259900	Primary hyperoxaluria, type I	259900	C0268164	OMIM	1	754	341	604285
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	C12orf65 CL E G H	91574	320375				ORPHA	1		26784	613541
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	CISD2 CL E G H	493856	604928	Wolfram syndrome 2	604928	C1858028	OMIM	1	71	24212	611507
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	65	17194	609435
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	SH3BP2 CL E G H	6452	118400	Fibrous dysplasia of jaw	118400	C0008029	OMIM	1	760	10825	602104
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	TXN2 CL E G H	25828	478029				ORPHA	1	76	17772	609063
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001138	HP:0001138	Optic neuropathy	0	ABCG5 CL E G H	64240	391665				ORPHA	0	605	13886	605459
HP:0001138	HP:0001138	Optic neuropathy	0	ABCG8 CL E G H	64241	391665				ORPHA	0	659	13887	605460
HP:0001138	HP:0001138	Optic neuropathy	0	APOB CL E G H	338	391665				ORPHA	0	2916	603	107730
HP:0001138	HP:0001138	Optic neuropathy	0	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	0	403	2020	600570
HP:0001138	HP:0001138	Optic neuropathy	0	LDLR CL E G H	3949	391665				ORPHA	0	3819	6547	606945
HP:0001138	HP:0001138	Optic neuropathy	0	LDLRAP1 CL E G H	26119	391665				ORPHA	0	436	18640	605747
HP:0001138	HP:0001138	Optic neuropathy	0	PCSK9 CL E G H	255738	391665				ORPHA	0	1000	20001	607786
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	ABCG5 CL E G H	64240	391665				ORPHA	0	605	13886	605459
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	ABCG8 CL E G H	64241	391665				ORPHA	0	659	13887	605460
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	APOB CL E G H	338	391665				ORPHA	0	2916	603	107730
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	0	403	2020	600570
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	LDLR CL E G H	3949	391665				ORPHA	0	3819	6547	606945
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	LDLRAP1 CL E G H	26119	391665				ORPHA	0	436	18640	605747
HP:0001138	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	1	PCSK9 CL E G H	255738	391665				ORPHA	0	1000	20001	607786