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:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	HP:0040284 - Very rare
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent	3
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	106
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	54
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	158
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	83
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	HP:0040283 - Occasional	55
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent	82
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent	60
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent	79
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent	79
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS		79
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent	493
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0007108	HP:0007108	Demyelinating peripheral neuropathy	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent	118
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent	118
HP:0007108	HP:0011402	Demyelinating sensory neuropathy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent	118
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent	118
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040280 - Obligate	79
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS		79
HP:0007108	HP:0007131	Acute demyelinating polyneuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0007108	HP:0007220	Demyelinating motor neuropathy	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18