rs1569541088, ABCD1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.700 CausalMutation CLINVAR Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy. 22479560 2012
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.700 CausalMutation CLINVAR Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations. 21300044 2011
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.700 CausalMutation CLINVAR Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy. 18973459 2008
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.700 CausalMutation CLINVAR Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. 8651290 1996