Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.310 GeneticVariation disease BEFREE A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract. 30894134 2019
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: 4233
Gene Symbol: MET
MET
0.040 GeneticVariation disease BEFREE Our study characterizes the genetic background of Chinese PSC patients and demonstrates the importance of involving EGFR rare mutations and MET exon 14 skipping targeted therapies into clinical trials for treating PSC patients. 31065835 2019
Entrez Id: 4233
Gene Symbol: MET
MET
0.040 GeneticVariation disease BEFREE We detected MET exon14 alterations using both targeted DNA- and RNA-based Next Generation Sequencing (NGS) and elucidated the driver mutation profile of 77 Chinese PSC patients. 30032818 2018
Entrez Id: 4233
Gene Symbol: MET
MET
0.040 GeneticVariation disease BEFREE In this study, effects of PSC conditioned medium (PCM) on c-MET phosphorylation (by immunocytochemistry enzyme-linked immunosorbent assay (ELISA)) and drug response (by sulforhodamine B assay) were investigated in five primary PDAC cells. 31072019 2019
Entrez Id: 4233
Gene Symbol: MET
MET
0.040 GeneticVariation disease BEFREE In this study, we aimed to investigate the prevalence of MET ex14 skipping mutation in PSC patients without common targetable mutations in EGFR, KRAS, ALK, ROS1, and RET. 31436251 2019
Entrez Id: 100653366
Gene Symbol: PSC
PSC
0.030 GeneticVariation disease BEFREE We investigated the accumulation of amyloid β (Aβ1-40, Aβ1-42, Aβ1-43) in the lens epithelium of patients with opacification of five different types (cortical cataract [COR]; nuclear cataract [NUC]; posterior subcapsular cataract [PSC]; retrodots [RD]; and water clefts [WC]). 28666280 2017
Entrez Id: 100653366
Gene Symbol: PSC
PSC
0.030 GeneticVariation 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: 100653366
Gene Symbol: PSC
PSC
0.030 GeneticVariation disease BEFREE Members of the International PSC Study Group and radiologists from North America and Europe have compiled the following position statement to provide guidance regarding the application of MRI in the care of PSC patients, minimum imaging standards, and future areas of research.(Hepatology 2017;66:1675-1688). 28555945 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.020 Biomarker disease BEFREE We conclude that p53 protects the lens against posterior subcapsular cataract formation by suppressing the proliferation of fiber cells and promoting the death of any fiber cells that enter the cell cycle. 21504908 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.020 AlteredExpression disease BEFREE We compared the clinical and histopathological findings, immunohistochemical expression of Ki-67 and p53 protein, and HPV typing of 5 cases of PIM with SM (n=9), HSIL (n=6), and PSC (n=4) to know the helpful features for the differential diagnosis. 11748359 2001
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: 80339
Gene Symbol: PNPLA3
PNPLA3
0.020 GeneticVariation disease BEFREE A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis. 23505555 2013
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: 80339
Gene Symbol: PNPLA3
PNPLA3
0.020 GeneticVariation disease BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167 2018
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.010 AlteredExpression disease BEFREE The level of MMP-2 and MMP-9 activity was found to be high in LECs and serum of cases with steroid induced PSC. 22259225 2012
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
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: 57817
Gene Symbol: HAMP
HAMP
0.010 Biomarker disease BEFREE Both serum hepcidin and the serum hepcidin/ferritin ratio were significantly lower in AIH and PBC/PSC patients' sera compared to HBV, HCV or NAFLD (P<0.001 for each comparison) and correlated negatively with serum ALP levels. 26270641 2015
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: 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: 26073
Gene Symbol: POLDIP2
POLDIP2
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: 3111
Gene Symbol: HLA-DOA
HLA-DOA
0.010 Biomarker disease BEFREE Therefore, we have used HLA-DNA typing in order to assign the DR52 splits in PSC patients. 1420116 1992
Entrez Id: 4311
Gene Symbol: MME
MME
0.010 Biomarker disease BEFREE CD10(+) PSCs significantly increased the tumor growth and invasiveness of SUIT-2 cells in a murine cotransplantation model. 20685603 2010
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.010 AlteredExpression disease BEFREE The level of MMP-2 and MMP-9 activity was found to be high in LECs and serum of cases with steroid induced PSC. 22259225 2012
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