DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: STARGARDT DISEASE 1 (disorder) ×

Variant: rs61751374 ×

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:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

28118664

2017

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

25712131

2015

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

25087612

2014

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Stargardt disease caused by a rare combination of double homozygous mutations.

24509150

2013

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.

22312191

2012

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

ABCA4 disease progression and a proposed strategy for gene therapy.

19074458

2009

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

19217903

2009

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

16103129

2005

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.

15579991

2004

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

9466990

1998

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

CausalMutation

CLINVAR

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

9054934

1997

dbSNP:

rs61751374

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.820

GeneticVariation

CLINVAR

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

9054934

1997