Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE SOX17 expression has not been studied in glandular lesions of the uterine cervix like adenocarcinoma in situ (AIS) and invasive adenocarcinomas (AdC), whereas SOX17 promoter CpG island methylation has been reported. 31444787

2020

Entrez Id: 30009
Gene Symbol: TBX21
TBX21
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE ChIP-seq showed that HDAC2 binding sites were enriched in regulation of Th1 cytokine production, and ChIP-PCR confirmed that HDAC2 binding was changed at the intron of STAT4 and the promoter of T-box transcription factor 21 (T-bet) in lymphocytes from AIS patients. 31465536

2020

Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE Numerous polymorphic variants of genes encoding proteins, that is, plasminogen activator inhibitor as well as coagulation factors, involved in the coagulation cascade may be related to arterial ischemic stroke (AIS) both in adults and children. 31530188

2020

Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE ChIP-seq showed that HDAC2 binding sites were enriched in regulation of Th1 cytokine production, and ChIP-PCR confirmed that HDAC2 binding was changed at the intron of STAT4 and the promoter of T-box transcription factor 21 (T-bet) in lymphocytes from AIS patients. 31465536

2020

Entrez Id: 3066
Gene Symbol: HDAC2
HDAC2
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE ChIP-seq showed that HDAC2 binding sites were enriched in regulation of Th1 cytokine production, and ChIP-PCR confirmed that HDAC2 binding was changed at the intron of STAT4 and the promoter of T-box transcription factor 21 (T-bet) in lymphocytes from AIS patients. 31465536

2020

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE Moreover, PAX3 expression on the concave side was lower than that on the convex side in AIS (p = 0.003). 31832874

2020

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE AIS incidence rates decreased significantly in the 21-24 year age group (annual percent change [APC] overall: -22.1%, 95% CI: -33.9 to -8.2; APC among screened: -16.1%, 95% CI: -28.8 to -1.2), but did not decrease significantly in any older age group. 30980692

2020

Entrez Id: 6453
Gene Symbol: ITSN1
ITSN1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE lnc-ITSN1-2 expression was increased in AIS patients compared to controls (P < .001), and receiver operating characteristic curve revealed its predictive value for AIS risk (area under the curve: 0.804, 95% confidence interval, 0.763-0.845). 31647141

2020

Entrez Id: 57575
Gene Symbol: PCDH10
PCDH10
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE DNA methylation was an important epigenetic mechanism at the interface between genetics and environmental phenotype, seeming to be a suitable epigenetic mark for the abnormal expression of PCDH10 in AIS. 31651684

2020

Entrez Id: 283131
Gene Symbol: NEAT1
NEAT1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE For patients with AIS, disease severity was evaluated by National Institute of Health Stroke Scale (NIHSS) score; plasma concentrations of inflammatory factors and lncRNA NEAT1 target microRNAs were measured by enzyme-linked immune sorbent assay and qPCR, respectively; stroke recurrence and death were recorded; and recurrence-free survival (RFS) was calculated. 31721299

2020

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE Mutations of KRAS, TP53 and NF1 were found at an increasing frequency from AIS/MIA to ADC. 31747302

2020

Entrez Id: 3567
Gene Symbol: IL5
IL5
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE After adjusting for confounders, we found that IL-5 was an independent protective factor for prognosis in AIS patients with an adjusted OR of 0.042 (P = 0.007), whereas IL-6 was an independent risk predictor for AIS patients with an adjusted OR of 1.293 (P = 0.003). 31164999

2019

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE Data from human diseases or dysfunctions identified 19 genes whose mutation was associated with human BMD: 9 genes each for human height and osteoporosis; 4 genes each for human osteoarthritis (OA) and fracture risk; and 2 genes each for adolescent idiopathic scoliosis (AIS), periodontitis, osteosarcoma growth, and tooth development. 31646011

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

Entrez Id: 1191
Gene Symbol: CLU
CLU
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE Analysis of CLU levels indicated significantly higher levels in AIS patients than healthy controls (14.91 ± 4.03 vs. 12.79 ± 2.22 ng/L; P = 0.0004). 30465328

2019

Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE Moreover, the major differential plasma proteins related to AIS were Fibronectin 1 (FN1), voltage-dependent anion channel 1 (VDAC1), Ras homolog family member A (RHOA), and AHNAK nucleoprotein (AHNAK). 30481617

2019

Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE Tissue expressions of ABO, CDH13, and SOX6 were compared between AIS and CS patients by the Student t test. 30994600

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: 28
Gene Symbol: ABO
ABO
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE SNPs rs4513093 of CDH13 and rs687621 of ABO were found to be significantly associated with AIS with an odds ratio of 0.8691 and 1.203, respectively. 30994600

2019

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE To understand the mechanisms of augmented arteriogenesis and angiogenesis in acute ischemic stroke (AIS) patients, we investigated whether circulating stem cells (CD133+), early endothelial progenitor cells (CD133+/VEGFR2+), and endothelial cells (ECs; CD34¯/CD133¯/VEGFR2+) were increasingly mobilized during AIS, and whether there were correlations between EPC levels, growth factor levels and inflammatory parameters. 30706812

2019

Entrez Id: 81848
Gene Symbol: SPRY4
SPRY4
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE Knockdown of SPRY4 impaired differentiation of healthy MSCs to osteoblasts, while SPRY4 overexpression in AIS MSCs enhanced osteogenic differentiation. 31645544

2019

Entrez Id: 407050
Gene Symbol: MIR93
MIR93
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE Importantly, miR-93 levels in plasma and neutrophil of AIS patients were negatively correlated with the expression of TNF-α and IL-10. 30579843

2019

Entrez Id: 2693
Gene Symbol: GHSR
GHSR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 Biomarker BEFREE The mRNA and protein levels of collagen II (COLII), SOX9, AGGRECAN (ACAN) and GHSR were higher in AIS patients than in controls. 31421834

2019

Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 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

Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression BEFREE RNA and protein analyses showed that in cancellous bone, higher RANKL/OPG and adipoR1 levels and lower runx2 levels were observed, and in cartilage, higher adipoR1 and IL6 levels were observed in AIS. 30819183

2019