Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
0.100 Biomarker disease HPO
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.100 Biomarker disease HPO
Entrez Id: 354
Gene Symbol: KLK3
KLK3
0.030 Biomarker disease BEFREE On a per-lesion basis, PI-RADS score (AUC 0.74) outperformed both PSA (AUC 0.59) and PSA density (AUC 0.63) in discriminating CS disease from non-CS PCa on tpTBx. 31762182 2019
Entrez Id: 354
Gene Symbol: KLK3
KLK3
0.030 Biomarker disease BEFREE The 3.4 kb deletion in plasma is an accurate predictor of CS cancer for men in the PSA 'grey zone'. 29248950 2018
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
0.030 GeneticVariation disease BEFREE This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. 28450710 2017
Entrez Id: 354
Gene Symbol: KLK3
KLK3
0.030 Biomarker disease BEFREE Even after multivariate adjustment with age, PSA, race, clinical stage and MRI suspicion score, Fbx CS cancer detection increased in successive cohorts (cohort 2: OR 2.23, P=0.043; cohort 3: OR 2.92, P=0.007). 28762373 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.030 GeneticVariation disease BEFREE These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients. 26149386 2015
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.030 GeneticVariation disease BEFREE The Asn/Asn genotype of XPD gene was significantly associated with increased risk of ARC (odds ratio [OR] = 2.74, 95% confidence interval [CI] = 1.01-7.43, p = 0.04) and cortical cataract (OR = 5.06, 95% CI = 1.70-15.05, p = 0.002). 24868140 2014
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
0.030 GeneticVariation disease BEFREE Here, we report the structure and α-crystallin binding interface of the G18V variant of human γS-crystallin (γS-G18V), which is linked to hereditary childhood-onset cortical cataract. 24183572 2013
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.030 Biomarker disease BEFREE Mutations in XPG found in XP-G/CS patient cells that prevent the association with TFIIH also resulted in the dissociation of CAK and XPD from the core TFIIH. 17466625 2007
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
0.030 GeneticVariation disease BEFREE Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.020 GeneticVariation disease BEFREE After adjusting for age, gender, ethnicity, body mass index, smoking status, socioeconomic status, hypertension, hyperlipidaemia, diabetes, duration of diabetes and cardiovascular disease, ACE inhibitors (OR=1.27; 95% CI 1.05 to 1.55), fibrates (OR=1.57; 95% CI 1.05 to 2.35), alpha-glucosidase inhibitors (AGIs) (OR=1.85; 95% CI 1.13 to 3.02) and insulin (OR=1.80; 95% CI 1.11 to 2.93) were significantly associated with the presence of cortical cataract. 31272959 2020
Entrez Id: 6750
Gene Symbol: SST
SST
0.020 Biomarker disease BEFREE This ELECT prospective analysis examined lanreotide depot/autogel for carcinoid syndrome (CS) symptom control in patients with neuroendocrine tumors (NETs) who were responsive to prior octreotide (prior octreotide group) compared with patients who were naïve to prior somatostatin analogue treatment (de novo group). 29547049 2018
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
0.020 Biomarker disease BEFREE The 3.4 kb deletion in plasma is an accurate predictor of CS cancer for men in the PSA 'grey zone'. 29248950 2018
Entrez Id: 6750
Gene Symbol: SST
SST
0.020 Biomarker disease BEFREE To evaluate association of carcinoid syndrome (CS) symptom burden and somatostatin analog (SSA) duration with quality of life (QoL) using Functional Assessment of Cancer Therapy-General (FACT-G) and Patient-Reported Outcomes Measurement Information System (PROMIS-29) instruments.Adults who received treatment for CS symptoms in the US were recruited to participate in a cross-sectional online survey (July-October, 2016). 30461659 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 Biomarker disease BEFREE We found that CS significantly inhibited CCl<sub>4</sub>- and TGFβ1-induced liver fibrosis and reduced both HSC activation and EMT. 29106960 2018
Entrez Id: 5324
Gene Symbol: PLAG1
PLAG1
0.020 Biomarker disease BEFREE The 3.4 kb deletion in plasma is an accurate predictor of CS cancer for men in the PSA 'grey zone'. 29248950 2018
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.020 Biomarker disease BEFREE Furthermore, in the Cox proportional hazard analysis, cTnI, but not ACE, IL2R or BNP, was a predictor of fatal arrhythmia in sarcoidosis patients (HR 2.418, P = 0.003).Higher ACE and sIL2-R are associated with systemic lesions, whereas BNP is a useful marker for detecting cardiac involvement in sarcoidosis patients. cTnI is a predictor of fatal arrhythmia in CS patients. 30101857 2018
Entrez Id: 9520
Gene Symbol: NPEPPS
NPEPPS
0.020 Biomarker disease BEFREE The 3.4 kb deletion in plasma is an accurate predictor of CS cancer for men in the PSA 'grey zone'. 29248950 2018
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
0.020 Biomarker disease BEFREE The 3.4 kb deletion in plasma is an accurate predictor of CS cancer for men in the PSA 'grey zone'. 29248950 2018
Entrez Id: 9520
Gene Symbol: NPEPPS
NPEPPS
0.020 Biomarker disease BEFREE Even after multivariate adjustment with age, PSA, race, clinical stage and MRI suspicion score, Fbx CS cancer detection increased in successive cohorts (cohort 2: OR 2.23, P=0.043; cohort 3: OR 2.92, P=0.007). 28762373 2017
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
0.020 Biomarker disease BEFREE Even after multivariate adjustment with age, PSA, race, clinical stage and MRI suspicion score, Fbx CS cancer detection increased in successive cohorts (cohort 2: OR 2.23, P=0.043; cohort 3: OR 2.92, P=0.007). 28762373 2017
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
0.020 Biomarker disease BEFREE Even after multivariate adjustment with age, PSA, race, clinical stage and MRI suspicion score, Fbx CS cancer detection increased in successive cohorts (cohort 2: OR 2.23, P=0.043; cohort 3: OR 2.92, P=0.007). 28762373 2017
Entrez Id: 5324
Gene Symbol: PLAG1
PLAG1
0.020 Biomarker disease BEFREE Even after multivariate adjustment with age, PSA, race, clinical stage and MRI suspicion score, Fbx CS cancer detection increased in successive cohorts (cohort 2: OR 2.23, P=0.043; cohort 3: OR 2.92, P=0.007). 28762373 2017
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
0.020 GeneticVariation disease BEFREE These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients. 26149386 2015