AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Bulbo-Spinal Atrophy, X-Linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049 2009
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Dissecting phenotypic variation among AIS patients. 16083860 2005
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome. 11788673 2002
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. 9768671 1998
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883 1996
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. 8040309 1994
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233 1992