AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622007
rs864622007
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.830 GeneticVariation BEFREE Our results indicate that the specific amino acid residue at position 701, its interaction with the backbone of Ser(778), and the steroidal 17alpha-hydroxyl group of the ligand are all important for the distinct transcriptional responses to progesterone and cortisol of AR mutants, including the prostate cancer mutant L701H. 20007693 2010
dbSNP: rs864622007
rs864622007
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.830 GeneticVariation BEFREE This mutant AR contains two mutations (L701H and T877A) and was previously reported as a high-affinity cortisol/cortisone responsive AR (AR(ccr)) isolated from the androgen-independent human prostate cancer cell lines MDA PCa 2a and 2b (Zhao et al.Nature Med.2000, 6, 703-6). 11906285 2002
dbSNP: rs864622007
rs864622007
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.830 GeneticVariation BEFREE The cortisol/cortisone-responsive AR (AR(ccr)) has two mutations (L701H and T877A) that were found in the MDA PCa human prostate cancer cell lines established from a castrated patient whose metastatic tumor exhibited androgen-independent growth. 11956172 2002
dbSNP: rs864622007
rs864622007
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		A 0.830 GeneticVariation CLINVAR
dbSNP: rs864622007
rs864622007
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.830 GeneticVariation UNIPROT
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation BEFREE Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality. 30815925 2019
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). 28624954 2017
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. 28186600 2017
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer. 27267075 2016
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR Mutation analysis of androgen receptor gene: multiple uses for a single test. 25241384 2014
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049 2009
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR "Genetic analysis of a family with 46,XY ""female"" associated with infertility." 16450583 2006
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668 2004
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.820 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: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483 1999
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692 1999
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822 1998
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. 9544375 1998
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419 1998
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173 1997
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734 1996
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113 1996
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.820 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340 1996