DisGeNET - a database of gene-disease associations

CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4, C4747961

Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	79977
Gene Symbol:	GRHL2

GRHL2

0.400

Biomarker

disease

GENOMICS_ENGLAND

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

2018

Entrez Id:	79977
Gene Symbol:	GRHL2

GRHL2

0.400

CausalMutation

disease

CLINVAR