Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
0.100 Biomarker disease HPO
Entrez Id: 7486
Gene Symbol: WRN
WRN
0.010 Biomarker disease BEFREE CN = 3+ for WRN was associated with nuclear and posterior subcapsular cataract (OR = 2.06, P = 0.02; OR = 3.72, P = 0.02). 23329665 2013
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.100 CausalMutation disease CLINVAR
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
0.100 Biomarker disease HPO
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: 4796
Gene Symbol: TONSL
TONSL
0.100 Biomarker disease HPO
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: 6779
Gene Symbol: STATH
STATH
0.010 GeneticVariation disease BEFREE Here we report linkage of autosomal dominant "progressive childhood posterior subcapsular" cataracts segregating in a white family to short tandem repeat (STR) markers D20S847 (LOD score [Z] 5.50 at recombination fraction [theta] 0.0) and D20S195 (Z=3.65 at theta =0.0) on 20q, and identify a refined disease interval (rs2057262-(3.8 Mb)-rs1291139) by use of single-nucleotide polymorphism (SNP) markers. 17701905 2007
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
0.100 Biomarker disease HPO
Entrez Id: 25897
Gene Symbol: RNF19A
RNF19A
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: 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: 92840
Gene Symbol: REEP6
REEP6
0.100 Biomarker disease HPO
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
0.100 Biomarker disease HPO
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: 9588
Gene Symbol: PRDX6
PRDX6
0.010 Biomarker disease BEFREE Immunoreactive 1-cysPrx protein was measured in capsulorrhexis specimens obtained from patients with anterior subcapsular cataract (ASC), nuclear sclerosis (NS), cortical spokes (CS), posterior subcapsular cataract (PSC), or white mature cataract (WC) at the time of cataract surgery. 16360653 2006
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: 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: 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: 5309
Gene Symbol: PITX3
PITX3
0.310 GermlineCausalMutation disease ORPHANET The PITX3 gene in posterior polar congenital cataract in Australia. 16636655 2006
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: 5309
Gene Symbol: PITX3
PITX3
0.310 GermlineCausalMutation disease ORPHANET A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. 21633712 2011
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 GeneticVariation disease BEFREE PSC is a novel phenotype of GOF mutation in PIK3CD. 25352054 2015