DisGeNET - a database of gene-disease associations

rs917202708, POMC

N. diseases: 2

Disease: Hypopigmentation disorder ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Hypopigmentation disorder

CUI:	C0162835
Disease:	Hypopigmentation disorder

0.010

GeneticVariation

BEFREE

K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation.

2017