Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.020 Biomarker disease BEFREE PSC and ASC are increasing in relevance along with IBD and reflect increasing performance of magnetic resonance cholangio-pancreatography and colonoscopy. 29470284 2018
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.020 Biomarker disease BEFREE Among 75 patients with active IBD and PSC treated with vedolizumab, 21 patients discontinued vedolizumab before Week 30 [due to lack of efficacy in 19 and malignancy in two patients]. 31056693 2019
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
0.010 Biomarker disease BEFREE Trp53(CKO) and Acvr1;Trp53(DCKO) (double conditional knockout), but not Acvr1(CKO), lenses developed abnormal collections of cells at the posterior of the lens that resembled posterior subcapsular cataracts. 21504908 2011
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
0.010 GeneticVariation disease BEFREE To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. 25091951 2014
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
0.010 Biomarker disease BEFREE As the PSC conditioned medium (normal glucose concentration) increased the ERK1/2 and p38 phosphorylation, we concluded that PSCs produce other factor(s) that influence(s) pancreatic cancer behaviour. 26010611 2015
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
0.010 Biomarker disease BEFREE As the PSC conditioned medium (normal glucose concentration) increased the ERK1/2 and p38 phosphorylation, we concluded that PSCs produce other factor(s) that influence(s) pancreatic cancer behaviour. 26010611 2015
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
0.010 AlteredExpression disease BEFREE We confirmed that CCC but not PSC had loss of BAF250a expression, HNF-1b up-regulation, loss of ER expression and P53 expression. 22977660 2012
Entrez Id: 836
Gene Symbol: CASP3
CASP3
0.010 AlteredExpression disease BEFREE Caspase-3 mRNA expression was higher in both PSC treated with ABZs and PSC treated with ABZs-loaded PLGA-PEG than that in control groups (P < 0.05). 27623699 2016
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.010 Biomarker disease BEFREE PD-L1 expression correlated with CD47 expression, and PD-L1/CD47 co-expression correlated with poorer prognosis and may serve as a predictive biomarker for combined dual-targeting immunotherapy in PSC patients. 31522278 2019
Entrez Id: 961
Gene Symbol: CD47
CD47
0.010 Biomarker disease BEFREE PD-L1 expression correlated with CD47 expression, and PD-L1/CD47 co-expression correlated with poorer prognosis and may serve as a predictive biomarker for combined dual-targeting immunotherapy in PSC patients. 31522278 2019
Entrez Id: 629
Gene Symbol: CFB
CFB
0.010 Biomarker disease BEFREE Neutralization of IL-6 suppressed the PSC-CM-induced upregulation of genes including complement factor B, lipocalin, and chemokine (C-C motif) ligand 20. 26738736 2016
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B
0.400 Biomarker disease HPO
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B
0.400 GermlineCausalMutation disease ORPHANET CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905 2007
Entrez Id: 1398
Gene Symbol: CRK
CRK
0.010 Biomarker disease BEFREE As the PSC conditioned medium (normal glucose concentration) increased the ERK1/2 and p38 phosphorylation, we concluded that PSCs produce other factor(s) that influence(s) pancreatic cancer behaviour. 26010611 2015
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.300 GermlineCausalMutation disease ORPHANET A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. 25195561 2014
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.300 GermlineCausalMutation disease ORPHANET Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 16877416 2006
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.300 GermlineCausalMutation disease ORPHANET A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. 20142846 2010
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
0.010 GeneticVariation disease BEFREE Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family. 21245961 2011
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.010 AlteredExpression disease BEFREE Hepatobiliary tissues of PSC and non-PSC patients (n = 8-11 per patient group) were collected at transplantation and were analysed for IL8 and FGF19 mRNA expression and IL8 localization. 26866350 2016
Entrez Id: 1638
Gene Symbol: DCT
DCT
0.010 Biomarker disease BEFREE We observed the development of the TRP2-specific iPSC-CD8<sup>+</sup> T cells that responded to Ag stimulation and infiltrated into melanoma tissues, significantly inhibited the tumor growth, and improved the survival of the tumor-bearing mice. 28811978 2017
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
0.310 GermlineCausalMutation disease ORPHANET Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
0.310 GeneticVariation disease BEFREE Our study presented the evidence for a novel EPHA2 kinase domain mutation that causes congenital posterior subcapsular cataracts. 31725171 2019
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
0.310 GermlineCausalMutation disease ORPHANET A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family. 23447127 2013
Entrez Id: 2152
Gene Symbol: F3
F3
0.010 Biomarker disease BEFREE Stromal TF positivity was found exclusively in ongoing inflammation.<b>Conclusion:</b> Our study provides additional support for a divergent pathogenesis in PSC-UC, with an inflammatory environment that differs from classical UC. 31774347 2019
Entrez Id: 9965
Gene Symbol: FGF19
FGF19
0.010 AlteredExpression disease BEFREE Hepatobiliary tissues of PSC and non-PSC patients (n = 8-11 per patient group) were collected at transplantation and were analysed for IL8 and FGF19 mRNA expression and IL8 localization. 26866350 2016