DisGeNET - a database of gene-disease associations

GNAT1, G protein subunit alpha transducin 1, 2779

N. diseases: 37; N. variants: 5

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104893740

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C1864870
Disease:

Night Blindness, Congenital Stationary, Autosomal Dominant 3

0.800

GeneticVariation

UNIPROT

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

17584859

2007

dbSNP:

rs104893740

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C1864870
Disease:

Night Blindness, Congenital Stationary, Autosomal Dominant 3

0.800

GeneticVariation

UNIPROT

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.

8673138

1996

dbSNP:

rs104893740

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C1864870
Disease:

Night Blindness, Congenital Stationary, Autosomal Dominant 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205853

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C1864870
Disease:

Night Blindness, Congenital Stationary, Autosomal Dominant 3

0.800

GeneticVariation

UNIPROT

dbSNP:

rs786205853

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C1864870
Disease:

Night Blindness, Congenital Stationary, Autosomal Dominant 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205854

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C4225345
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205854

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C4225345
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G

0.800

GeneticVariation

UNIPROT

dbSNP:

rs11716820

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

29844566

2018

dbSNP:

rs9858059

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

29942086

2018

dbSNP:

rs104893740

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.010

GeneticVariation

BEFREE

While the RHO and PDE6B mutations result in constitutively active proteins, the only known adCSNB-associated GNAT1 change (p.Gly38Asp) produces an alpha-transducin that is unable to activate its downstream effector molecule in vitro.

17584859

2007

dbSNP:

rs786205853

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.010

GeneticVariation

BEFREE

In a multigeneration Danish family with adCSNB, we identified a novel heterozygous C to G transversion (c.598C>G) in exon 6 of GNAT1 that should result in a p.Gln200Glu substitution in the evolutionarily highly conserved Switch 2 region of alpha-transducin, a domain that has an important role in binding and hydrolyzing GTP.

17584859

2007