Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 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: 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: 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: 3299
Gene Symbol: HSF4
HSF4
0.010 Biomarker disease BEFREE CN = 1 for HSF4 was associated with nuclear and posterior subcapsular cataract (OR = 5.73, P = 0.001; OR = 6.80, P = 0.01). 23329665 2013
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: 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: 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: 4284
Gene Symbol: MIP
MIP
0.300 GermlineCausalMutation disease ORPHANET A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family. 25803033 2015
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: 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: 5595
Gene Symbol: MAPK3
MAPK3
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: 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: 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: 2952
Gene Symbol: GSTT1
GSTT1
0.010 GeneticVariation disease BEFREE This meta-analysis suggests that GSTT1 null polymorphism is associated with increased risk of posterior subcapsular cataract. 26208492 2015
Entrez Id: 9402
Gene Symbol: GRAP2
GRAP2
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: 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: 1432
Gene Symbol: MAPK14
MAPK14
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: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 GeneticVariation disease BEFREE PSC is a novel phenotype of GOF mutation in PIK3CD. 25352054 2015