DisGeNET - a database of gene-disease associations

rs587779383, FGFR3

N. diseases: 5

Disease: Acanthosis Nigricans ×

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

Acanthosis Nigricans

CUI:	C0000889
Disease:	Acanthosis Nigricans

0.700

GeneticVariation

CLINVAR

Familial acanthosis nigricans due to K650T FGFR3 mutation.

2007