Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011096	HP:0011096	Peripheral demyelination	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0011096	HP:0011096	Peripheral demyelination	0	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.		12
HP:0011096	HP:0011096	Peripheral demyelination	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0011096	HP:0011096	Peripheral demyelination	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0011096	HP:0011096	Peripheral demyelination	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0011096	HP:0011096	Peripheral demyelination	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0011096	HP:0011096	Peripheral demyelination	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0011096	HP:0011096	Peripheral demyelination	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional		76
HP:0011096	HP:0011096	Peripheral demyelination	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0011096	HP:0011096	Peripheral demyelination	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0011096	HP:0011096	Peripheral demyelination	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0011096	HP:0011096	Peripheral demyelination	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0011096	HP:0011096	Peripheral demyelination	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0011096	HP:0011096	Peripheral demyelination	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent		108
HP:0011096	HP:0011096	Peripheral demyelination	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0011096	HP:0011096	Peripheral demyelination	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0011096	HP:0011096	Peripheral demyelination	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0011096	HP:0011096	Peripheral demyelination	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent		11
HP:0011096	HP:0011096	Peripheral demyelination	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0011096	HP:0011096	Peripheral demyelination	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0011096	HP:0011096	Peripheral demyelination	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011096	HP:0011096	Peripheral demyelination	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0011096	HP:0011096	Peripheral demyelination	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.		82
HP:0011096	HP:0011096	Peripheral demyelination	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0011096	HP:0011096	Peripheral demyelination	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0011096	HP:0011096	Peripheral demyelination	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0011096	HP:0011096	Peripheral demyelination	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	HP:0040282 - Frequent		134
HP:0011096	HP:0011096	Peripheral demyelination	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0011096	HP:0011096	Peripheral demyelination	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.	HP:0003581 - Adult onset	134
HP:0011096	HP:0011096	Peripheral demyelination	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0011096	HP:0011096	Peripheral demyelination	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0011096	HP:0011096	Peripheral demyelination	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.		81
HP:0011096	HP:0011096	Peripheral demyelination	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0011096	HP:0011096	Peripheral demyelination	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0011096	HP:0011096	Peripheral demyelination	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0011096	HP:0011096	Peripheral demyelination	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent		60
HP:0011096	HP:0011096	Peripheral demyelination	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0011096	HP:0011096	Peripheral demyelination	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0011096	HP:0011096	Peripheral demyelination	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0011096	HP:0011096	Peripheral demyelination	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0011096	HP:0011096	Peripheral demyelination	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0011096	HP:0011096	Peripheral demyelination	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0011096	HP:0011096	Peripheral demyelination	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0011096	HP:0011096	Peripheral demyelination	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0011096	HP:0011096	Peripheral demyelination	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0011096	HP:0011096	Peripheral demyelination	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0011096	HP:0011096	Peripheral demyelination	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0011096	HP:0011096	Peripheral demyelination	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0011096	HP:0011096	Peripheral demyelination	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011096	HP:0011096	Peripheral demyelination	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0011096	HP:0011096	Peripheral demyelination	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0011096	HP:0011096	Peripheral demyelination	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011096	HP:0011096	Peripheral demyelination	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0011096	HP:0011096	Peripheral demyelination	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0011096	HP:0030176	Asymmetric peripheral demyelination	1	CL E G H
HP:0011096	HP:0006881	Diffuse peripheral demyelination	1	CL E G H
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0011096	HP:0007107	Segmental peripheral demyelination	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	HP:0040283 - Occasional		167
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0011096	HP:0007107	Segmental peripheral demyelination	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0011096	HP:0007262	Symmetric peripheral demyelination	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0011096	HP:0007107	Segmental peripheral demyelination	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.		74
HP:0011096	HP:0007262	Symmetric peripheral demyelination	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.		79
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0011096	HP:0007107	Segmental peripheral demyelination	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0003481	Segmental peripheral demyelination/remyelination	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0011096	HP:0006873	Symmetrical progressive peripheral demyelination	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115