×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
Biomarker
disease
CTD_human
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.320
GeneticVariation
disease
ORPHANET
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
BEFREE
ABCA4 mutation testing detected 15 STGD alleles, six of which harbor novel mutations.
23882696
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
23499370
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
CausalMutation
disease
CLINVAR
A map of human genome variation from population-scale sequencing.
20981092
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
A map of human genome variation from population-scale sequencing.
20981092
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
CausalMutation
disease
CLINVAR
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
10509673
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
10612508
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
UNIPROT
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
10612508
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
BEFREE
A patient, who exhibited a STGD phenotype, was found to be homozygous for the p.Asn1805Asp (c.5413A>G) mutation in ABCA4 .
18334942
2008
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
CausalMutation
disease
CLINVAR
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934
1997
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934
1997
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
UNIPROT
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934
1997
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
Biomarker
disease
BEFREE
A primary role of the ABCA4 gene in STGD1 /FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
10958761
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
Biomarker
disease
BEFREE
A total of 238 patients with ABCA4 -related STGD1 were enrolled at baseline (bilateral enrollment in 86.6%) and underwent repeat testing at months 6 and 12.
29890160
2018
×
Entrez Id:
263
Gene Symbol:
AMD1P2
AMD1P2
0.020
Biomarker
disease
BEFREE
A total of 24 eyes of 12 patients with STGD and 23 eyes of 14 patients with atrophic AMD were enrolled in the study.
22589445
2012
×
Entrez Id:
262
Gene Symbol:
AMD1
AMD1
0.020
Biomarker
disease
BEFREE
A total of 24 eyes of 12 patients with STGD and 23 eyes of 14 patients with atrophic AMD were enrolled in the study.
22589445
2012
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
20335603
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
ABCA4 disease progression and a proposed strategy for gene therapy.
19074458
2009
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
CausalMutation
disease
CLINVAR
ABCA4 disease progression and a proposed strategy for gene therapy.
19074458
2009