DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Acanthosis Nigricans ×

Gene: FGFR3 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0000889
Disease:	Acanthosis Nigricans

Acanthosis Nigricans

0.200

GeneticVariation

CLINVAR

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

2007

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0000889
Disease:	Acanthosis Nigricans

Acanthosis Nigricans

0.200

GeneticVariation

CLINVAR

Familial acanthosis nigricans due to K650T FGFR3 mutation.

2007

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0000889
Disease:	Acanthosis Nigricans

Acanthosis Nigricans

0.200

Biomarker

HPO