|
Abnormal choroid morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormal foveal morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormal retinal morphology
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormal vision
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal vision
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormal visual evoked potential
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of macular pigmentation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of retinal pigmentation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Adrenoleukodystrophy
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
X-linked adrenoleukodystrophy (X-ALD) is a devastating neurological disorder caused by mutations in the ABCD1 gene that encodes a peroxisomal ATP-binding cassette transporter (ABCD1) responsible for transport of CoA-activated very long-chain fatty acids (VLCFA) into the peroxisome for degradation.
|
25592337 |
2015 |
|
Adrenoleukodystrophy
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
X-linked adrenoleukodystrophy is caused by ATP-binding cassette transporter D1 (ABCD1) mutations and manifests by default as slowly progressive spinal cord axonopathy with associated demyelination (adrenomyloneuropathy).
|
29860501 |
2018 |
|
Adrenoleukodystrophy
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Adrenoleukodystrophy (ALD) is caused by mutations in an ATP-binding-cassette transporter located in the peroxisomal membrane, which result in a fatal demyelinating disease in boys and a milder phenotype in men and some heterozygous women.
|
10088993 |
1999 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast, hRPE cells of the AMD-protective CFH haplotype (YY402/II62) showed no complement activation following exposure to either Abca4(-/-) or wild-type OS.
|
24550392 |
2014 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA4 gene are responsible for a number of related retinal degenerative diseases, including Stargardt macular degeneration, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration.
|
19056738 |
2009 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Age related macular degeneration
|
0.700 |
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 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA4 gene contribute to age-related macular degeneration.
|
12437993 |
2003 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Null ABCA4 gene mutations found in Japanese patients with panretinal degeneration.
|
16604398 |
2006 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Because A2E accumulation in the RPE is associated with pathogenesis of both Stargardt disease and age-related macular degeneration (AMD) in humans, deletion of Abca4 was introduced into Atg7(flox/flox);VMD2-rtTA-cre+ mice to investigate the role of autophagy during A2E accumulation.
|
26468292 |
2015 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data from this case report support the hypothesis that ABCR is a dominant susceptibility locus for AMD.
|
10396622 |
1999 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of the 21 missense ABCR mutations reported in patients with AMD, 16 (76%) show abnormalities in protein expression, ATP-binding or ATPase activity.
|
11726554 |
2001 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations.
|
22706241 |
2012 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
LHGDN |
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
|
11919200 |
2002 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
|
22948568 |
2012 |