Gene: ABCA4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease BEFREE Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy. 31318848 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease BEFREE Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy. 31618812 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 Biomarker disease BEFREE Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy. 30634128 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 Biomarker disease BEFREE Generalized choriocapillaris dystrophy is a progressive ABCA4-associated phenotype characterized by early-onset macular dystrophy that disperses and expands to widespread end-stage chorioretinal atrophy with profound visual loss. 24713488 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 Biomarker disease BEFREE ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. 20335603 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 CausalMutation disease CLINVAR Gene symbol: ABCA4. Disease: Macular dystrophy. 20960624 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. 14517951 2003
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 Biomarker disease BEFREE The ABCA4 gene has been involved in several forms of inherited macular dystrophy. 11385708 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease BEFREE Particular interest has focused on the ABCR gene which is responsible for autosomal recessive Stargardt macular dystrophy. 10662806 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 CausalMutation disease CLINVAR Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. 10874631 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease BEFREE Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. 9054934 1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.190 GeneticVariation disease CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997