Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.030 GeneticVariation LHGDN Esophageal cancer risk in relation to GGC and CAG trinucleotide repeat lengths in the androgen receptor gene. 12925954

2003

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 GeneticVariation LHGDN Androgen insensitivity syndrome (AIS) is an X-linked disease caused by mutations in the androgen receptor (AR) resulting in various degrees of defective masculinization in 46,XY individuals. 15171708

2004

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 GeneticVariation LHGDN Androgen receptor mutations causing human androgen insensitivity syndromes show a key role of residue M807 in Helix 8-Helix 10 interactions and in receptor ligand-binding domain stability. 11818512

2002

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation LHGDN Androgen receptor gene methylation and exon one CAG repeat length in ovarian cancer: differences from breast cancer. 15545219

2004

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression LHGDN Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. 15956082

2005

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 Biomarker LHGDN Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations. 17937062

2007

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C2937421
Disease: Prostatic Hyperplasia
Prostatic Hyperplasia
0.070 Biomarker LHGDN A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH. 15136785

2004

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 AlteredExpression LHGDN A central domain of cyclin D1 mediates nuclear receptor corepressor activity. 15558026

2005

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 GeneticVariation LHGDN A chemiluminescence-based assessment of androgen-binding activity in a large pedigree affected with androgen insensitivity syndrome. 17538927

2008

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.030 Biomarker LHGDN A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. 17997416

2008

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 AlteredExpression LHGDN A feedback loop between the androgen receptor and a NEDD4-binding protein, PMEPA1, in prostate cancer cells. 18703514

2008

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 Biomarker LHGDN A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome. 16759930

2006

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 GeneticVariation LHGDN A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. 17714709

2008

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 AlteredExpression LHGDN A role for the androgen-receptor in clinically localized and advanced prostate cancer. 18471792

2008

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 GeneticVariation LHGDN A splicing variant of the androgen receptor detected in a metastatic prostate cancer exhibits exclusively cytoplasmic actions. 17540719

2007

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 GeneticVariation LHGDN A subset of PCOS patients with relatively longer CAG repeats (less AR activity) tended to show a higher serum androgen concentration. 18191848

2008

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 Biomarker LHGDN Acetylation of androgen receptor enhances coactivator binding and promotes prostate cancer cell growth. 14612401

2003

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 AlteredExpression LHGDN Activation of the androgen receptor N-terminal domain by interleukin-6 via MAPK and STAT3 signal transduction pathways. 11751884

2002

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 AlteredExpression LHGDN AKT-independent protection of prostate cancer cells from apoptosis mediated through complex formation between the androgen receptor and FKHR. 12482965

2003

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 Biomarker LHGDN Alien interacts with the human androgen receptor and inhibits prostate cancer cell growth. 17356171

2007

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
0.040 Biomarker LHGDN Alleles with short CAG and GGN repeats in the androgen receptor gene are associated with benign endometrial cancer. 16187285

2006

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 Biomarker LHGDN Altered endocytosis of epidermal growth factor receptor in androgen receptor positive prostate cancer cell lines. 17242169

2007

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
0.050 GeneticVariation LHGDN An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. 12050225

2002

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 GeneticVariation LHGDN An unexpected wide population variation of the G1733A polymorphism of the androgen receptor gene: data on the Mediterranean region. 16254899

2006

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.600 Biomarker LHGDN Androgen and its receptor promote Bax-mediated apoptosis. 16479009

2006