Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN [Prenatal diagnosis of X-linked adrenoleukodystrophy]. 17285533

2007
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN Clinical findings referred to adrenoleukodystrophy, consecutively performed genetic analyses showed missense mutation at the codon 479 (T>C) in exon 1 of ABCD 1 gene, predicting the substitution L160P in ALD protein. 17662307

2007
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN Adrenoleukodystrophy--a new mutation identified. 18306728

2007
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN For the first time, mutations in ABCD1 are identified in Chinese ALD patients in the mainland of China. 14556192

2003
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN [Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5]. 12579499

2003
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. 11992258

2002
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN Expression studies revealed that only K217E is a deleterious mutation, because a plasmid encoding ALDP with K217E was ineffective in the restoration of defective beta-oxidation in X-ALD fibroblasts. 11438993

2001
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation LHGDN Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. 10737980

2000