rs201774661, ABCD1

N. diseases: 1
Disease: Adrenoleukodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. 26686776 2016
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene. 23651979 2013
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894 2012
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483 2012
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation CLINVAR Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India. 21966424 2011
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. 21889498 2011
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation CLINVAR Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations. 17542813 2007
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. 15643618 2005
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. 11438993 2001
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. 11248239 2001
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. 11810273 2001
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. 10737980 2000
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. 10480364 1999
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. 10551832 1999
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Two novel missense mutations causing adrenoleukodystrophy in Italian patients. 10369742 1999
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. 8566952 1996
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation CLINVAR Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. 8651290 1996
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602 1995
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. 7717396 1995
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Mutational analysis of patients with X-linked adrenoleukodystrophy. 7581394 1995
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 7849723 1994
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 8040304 1994
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. 7904210 1993