AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.500 GeneticVariation disease GWASDB Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. 22693459 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.140 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. 19060910 2009
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. 19060910 2009
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT In summary, missense mutations within the exons of the androgen receptor gene encoding the steroid-binding domain of the receptor are common causes of both partial and complete forms of androgen insensitivity syndrome. 7581399 1995
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. 10022458 1999
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Mutations in the androgen receptor gene in 46,XY individuals can be associated with the androgen insensitivity syndrome, of which the phenotype can vary from a female phenotype to an undervirilized or infertile male phenotype. 8918984 1996
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. 9106550 1997
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. 8103398 1993
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. 7641413 1995
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome. 1426313 1992
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group. 9007482 1997
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419 1998
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT To our knowledge, there has been no previous report of a de novo mutation described within the androgen receptor gene in patients with androgen insensitivity syndrome. 8096390 1993
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation disease UNIPROT Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. 9856504 1998