DisGeNET - a database of gene-disease associations

Gene: CACNA2D4 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	93589
Gene Symbol:	CACNA2D4

CACNA2D4

CUI:	C0339535
Disease:	Night blindness, congenital stationary

Night blindness, congenital stationary

0.510

Biomarker

GENOMICS_ENGLAND

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

2016