rs61750130, ABCA4

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 CausalMutation CLINVAR
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
CUI: C4692584
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
0.700 CausalMutation CLINVAR
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
0.700 CausalMutation CLINVAR
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
0.700 CausalMutation CLINVAR
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
0.700 SusceptibilityMutation CLINVAR
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763 2000
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508 1999
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT An analysis of ABCR mutations in British patients with recessive retinal dystrophies. 10634594 2000
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT An analysis of allelic variation in the ABCA4 gene. 11328725 2001
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 9503029 1998
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 10746567 2000
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993 2001
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981 2013
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. 18977788 2009
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280 1999
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280 1999
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 9490294 1998
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935 2001
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710 2000
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.010 GeneticVariation BEFREE Of the 2, the p.R1331C CRB1 mutation has not been described before and the p.P1381L variant has been described in 1 patient with Leber congenital amaurosis. 24811962 2014
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708 2001
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998