DisGeNET - a database of gene-disease associations

Gene: SLC24A1 ×

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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:	9187
Gene Symbol:	SLC24A1

SLC24A1

CUI:	C0339535
Disease:	Night blindness, congenital stationary

Night blindness, congenital stationary

0.720

GermlineCausalMutation

ORPHANET

Our data expand the genetic basis of CSNB and highlight the indispensible function of SLC24A1 in retinal function and/or maintenance in humans.

2010