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: 55229
Gene Symbol: PANK4
PANK4
0.300 GermlineCausalMutation disease ORPHANET A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. 30585370 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 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: 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: 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: 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: 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: 3909
Gene Symbol: LAMA3
LAMA3
0.010 Biomarker disease BEFREE Proton dose correlated with the occurrence of PSC and nuclear color cataracts as defined by LOCS III grading. 30721686 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: 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 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: 53345
Gene Symbol: TM6SF2
TM6SF2
0.010 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: 406991
Gene Symbol: MIR21
MIR21
0.010 AlteredExpression disease BEFREE In addition, miR-21 expression in activated PSCs was downregulated after RSV treatment, whereas the PTEN protein level increased. miR-21 silencing attenuated ROS-induced activation, invasion, migration, and glycolysis of PSCs, whereas the overexpression of miR-21 rescued the responses of PSCs treated with RSV. 29854071 2018
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
0.010 Biomarker disease BEFREE Matrix metalloproteinase (MMP) 2 or membrane type-1 MMP (MT1MMP) knockdown in PSCs significantly attenuated BM destruction by PSCs, and retained the ductal structures in organoids. 29580808 2018
Entrez Id: 51561
Gene Symbol: IL23A
IL23A
0.010 AlteredExpression disease BEFREE PSC monocytes expressed significantly less IL-12p70 (108 pg/ml, mean) and IL-23 (358 pg/ml) compared to HC (458 pg/ml and 951 pg/ml, respectively) (p < 0.01, p < 0.05). 30119881 2018
Entrez Id: 6019
Gene Symbol: RLN2
RLN2
0.010 Biomarker disease BEFREE Significantly, we observed RLX-SPION retarded the tumor growth by itself and also potentiated the effect of gemcitabine in a subcutaneous co-injection (Panc1 and hPSCs) tumor model. 30287265 2018
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 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: 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: 4924
Gene Symbol: NUCB1
NUCB1
0.010 Biomarker 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: 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