DisGeNET - a database of gene-disease associations

GNAT1, G protein subunit alpha transducin 1, 2779

N. diseases: 37; N. variants: 5

Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4225345
Disease:	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

0.600

GeneticVariation

disease

UNIPROT

GNAT1 associated with autosomal recessive congenital stationary night blindness.

22190596

2012

CUI:	C4225345
Disease:	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

0.600

CausalMutation

disease

CLINVAR

CUI:	C4225345
Disease:	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

0.600

Biomarker

disease

GENOMICS_ENGLAND