DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Adult-Onset Vitelliform Macular Dystrophy ×

Gene: IMPG2 ×

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:	50939
Gene Symbol:	IMPG2

IMPG2

CUI:	C1842914
Disease:	Adult-Onset Vitelliform Macular Dystrophy

Adult-Onset Vitelliform Macular Dystrophy

0.500

GermlineCausalMutation

ORPHANET

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

25085631

2014

Entrez Id:	50939
Gene Symbol:	IMPG2

IMPG2

CUI:	C1842914
Disease:	Adult-Onset Vitelliform Macular Dystrophy

Adult-Onset Vitelliform Macular Dystrophy

0.500

Biomarker

CTD_human