DisGeNET - a database of gene-disease associations

Stargardt's disease, C0271093

Variant: rs61751408 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs61751408

ABCA4

0.700

CausalMutation

CLINVAR

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

24713488

2014

dbSNP:

rs61751408

ABCA4

0.700

CausalMutation

CLINVAR

Stargardt disease: towards developing a model to predict phenotype.

23695285

2013

dbSNP:

rs61751408

ABCA4

0.700

CausalMutation

CLINVAR

The clinical effect of homozygous ABCA4 alleles in 18 patients.

23769331

2013

dbSNP:

rs61751408

ABCA4

0.700

CausalMutation

CLINVAR

ABCA4 disease progression and a proposed strategy for gene therapy.

19074458

2009

dbSNP:

rs61751408

ABCA4

0.700

CausalMutation

CLINVAR

The NBD2 expression plasmid was used to generate a Leu2027Phe mutation associated with Stargardt disease.

11123914

2000

dbSNP:

rs61751408

ABCA4

0.700

CausalMutation

CLINVAR

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

9054934

1997