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:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	DNAJC3 CL E G H	5611	445062				ORPHA	1	118	9439	601184
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC2 CL E G H	2068	220295				ORPHA	1	1572	3434	126340
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC3 CL E G H	2071	220295				ORPHA	1	523	3435	133510
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC4 CL E G H	2072	220295				ORPHA	1	726	3436	133520
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC5 CL E G H	2073	220295				ORPHA	1	491	3437	133530
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	HARS CL E G H	3035	488333				ORPHA	1		4816	142810
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SACS CL E G H	26278	98				ORPHA	1	3377	10519	604490
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	378	11190	602229
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SPTBN4 CL E G H	57731	617519	Myopathy, congenital, with neuropathy and deafness	617519	C4479603	OMIM	1	321	14896	606214
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	DNAJC3 CL E G H	5611	445062				ORPHA	1	118	9439	601184
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	DNAJC3 CL E G H	5611	445062				ORPHA	1	118	9439	601184
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	DNAJC3 CL E G H	5611	445062				ORPHA	1	118	9439	601184
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ERCC2 CL E G H	2068	220295				ORPHA	1	1572	3434	126340
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ERCC2 CL E G H	2068	220295				ORPHA	1	1572	3434	126340
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ERCC2 CL E G H	2068	220295				ORPHA	1	1572	3434	126340
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ERCC3 CL E G H	2071	220295				ORPHA	1	523	3435	133510
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ERCC3 CL E G H	2071	220295				ORPHA	1	523	3435	133510
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ERCC3 CL E G H	2071	220295				ORPHA	1	523	3435	133510
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ERCC4 CL E G H	2072	220295				ORPHA	1	726	3436	133520
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ERCC4 CL E G H	2072	220295				ORPHA	1	726	3436	133520
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ERCC4 CL E G H	2072	220295				ORPHA	1	726	3436	133520
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ERCC5 CL E G H	2073	220295				ORPHA	1	491	3437	133530
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ERCC5 CL E G H	2073	220295				ORPHA	1	491	3437	133530
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ERCC5 CL E G H	2073	220295				ORPHA	1	491	3437	133530
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	HARS CL E G H	3035	488333				ORPHA	1		4816	142810
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	HARS CL E G H	3035	488333				ORPHA	1		4816	142810
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	HARS CL E G H	3035	488333				ORPHA	1		4816	142810
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	SACS CL E G H	26278	98				ORPHA	1	3377	10519	604490
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	SACS CL E G H	26278	98				ORPHA	1	3377	10519	604490
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	SACS CL E G H	26278	98				ORPHA	1	3377	10519	604490
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	378	11190	602229
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	378	11190	602229
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	378	11190	602229
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	SPTBN4 CL E G H	57731	617519	Myopathy, congenital, with neuropathy and deafness	617519	C4479603	OMIM	1	321	14896	606214
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	SPTBN4 CL E G H	57731	617519	Myopathy, congenital, with neuropathy and deafness	617519	C4479603	OMIM	1	321	14896	606214
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	SPTBN4 CL E G H	57731	617519	Myopathy, congenital, with neuropathy and deafness	617519	C4479603	OMIM	1	321	14896	606214
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	0	485	6831	609489
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNF168 CL E G H	165918	420741				ORPHA	0	358	26661	612688
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	0	485	6831	609489
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	0	485	6831	609489
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	0	485	6831	609489
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	RNF168 CL E G H	165918	420741				ORPHA	0	358	26661	612688
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	RNF168 CL E G H	165918	420741				ORPHA	0	358	26661	612688
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	RNF168 CL E G H	165918	420741				ORPHA	0	358	26661	612688
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609