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: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity. 16365032 2006
dbSNP: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction. 15541764 2005
dbSNP: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity. 11376111 2001
dbSNP: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Screening for mutations in candidate genes for hypospadias. 10092153 1999
dbSNP: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849 1995