Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 GeneticVariation CLINVAR

Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 148738
Gene Symbol: HJV
HJV
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation CLINVAR