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: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. 24737579 2014
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 20150575 2010
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. 14974091 2004
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. 10690872 2000
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. 8126121 1994