Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Androgen insensitivity syndromes represent one cause of human male pseudohermaphroditism related to defects in the androgen receptor. 8339746

1993
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT AIS is often accompanied by a broad spectrum of abnormal binding characteristics of the androgen receptor (AR). 9039340

1996
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 CausalMutation CLINVAR AIS is often accompanied by a broad spectrum of abnormal binding characteristics of the androgen receptor (AR). 9039340

1996
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Androgen insensitivity syndrome is an X-linked disorder of sexual differentiation resulting from abnormalities of the androgen receptor gene. 9255042

1997
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 CausalMutation CLINVAR Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. 9328206

1997
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. 9328206

1997
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation BEFREE Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. 9328206

1997
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation BEFREE Androgen insensitivity syndromes are due to defects in the androgen receptor gene. 9544375

1998
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Androgen insensitivity syndromes are due to defects in the androgen receptor gene. 9544375

1998
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation BEFREE Androgen receptor (AR) gene mutations have been shown to cause androgen insensitivity syndrome with altered sexual differentiation in XY individuals, ranging from a partial insensitivity with male phenotype and azoospermia to a complete insensitivity with female phenotype and the absence of pubic and axillary sexual hair after puberty. 10999818

2000
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: 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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation BEFREE 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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation BEFREE Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049

2009
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 Biomarker BEFREE Androgen receptor (AR) is a major therapeutic target that plays pivotal roles in prostate cancer (PCa) and androgen insensitivity syndromes. 22653923

2012
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 AlteredExpression BEFREE CHC knockdown upregulated the membrane Ob-R levels and enhanced leptin's effects on AIS primary chondrocytes; The underlying mechanism of chondrocytes that are hyposensitive to leptin in some girls with AIS is low plasma membrane Ob-R expression that results from an imbalance between the rate of receptor endocytosis and the insertion of newly synthesized receptors into the membrane. 27447624

2016
Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.020 GeneticVariation BEFREE VDR Bsm I and VDBP rs222020 C>T polymorphisms may be predisposition factors of AIS and the efficacy of brace treatment in AIS patients. 27856225

2016
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.040 Biomarker BEFREE Factor V Leiden was associated with an increased risk of AIS (odds ratio [OR]: 4.72, 95% confidence interval [CI]: 1.22-18.27) and perinatal AIS (OR: 8.29, 95% CI: 1.95-35.24). 28301901

2017
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 Biomarker BEFREE FDG PET/CT Image of Seminoma in Androgen Insensitivity Syndrome. 28604478

2017
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.040 GeneticVariation BEFREE Factor V Leiden-mutations were found in 16.8% of patients with cerebral sinus venous thrombosis (CVT) and in 17.8% of patients with arterial ischemic stroke (AIS), which was significantly more frequent than in controls at a rate of 4.95% (ORs: 3.89 and 4.16). 28869458

2017
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.020 Biomarker BEFREE PAX1 has been identified to be associated with adolescent idiopathic scoliosis (AIS). 30572100

2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.020 AlteredExpression BEFREE VEGF plasma levels were also significantly higher in AIS patients compared to control patients on day 7 (p < 0.05). 30706812

2019
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.050 GeneticVariation BEFREE EGFR mutations were more frequently detected in MIAs (33/69, 48%) than AIS (9/34, 26%; p =  0.055). 30797486

2019
Entrez Id: 213
Gene Symbol: ALB
ALB
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 Biomarker BEFREE Serum albumin is known for its neuroprotective effects and is a marker of improved AIS patient outcomes. 30897566

2019
Entrez Id: 406966
Gene Symbol: MIR191
MIR191
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 Biomarker BEFREE MiR-191 was increased in the plasma of AIS patients, OGD/R HUVECs, and the plasma and brain of MCAO rats. 31064890

2019