×
Entrez Id:
128866
Gene Symbol:
CHMP4B
CHMP4B
0.400
Biomarker
disease
HPO
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
0.100
Biomarker
disease
HPO
×
Entrez Id:
83932
Gene Symbol:
SPRTN
SPRTN
0.100
Biomarker
disease
HPO
×
Entrez Id:
50939
Gene Symbol:
IMPG2
IMPG2
0.100
Biomarker
disease
HPO
×
Entrez Id:
79797
Gene Symbol:
ZNF408
ZNF408
0.100
Biomarker
disease
HPO
×
Entrez Id:
2703
Gene Symbol:
GJA8
GJA8
0.100
Biomarker
disease
HPO
×
Entrez Id:
7287
Gene Symbol:
TULP1
TULP1
0.100
Biomarker
disease
HPO
×
Entrez Id:
92840
Gene Symbol:
REEP6
REEP6
0.100
Biomarker
disease
HPO
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.100
Biomarker
disease
HPO
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4796
Gene Symbol:
TONSL
TONSL
0.100
Biomarker
disease
HPO
×
Entrez Id:
5949
Gene Symbol:
RBP3
RBP3
0.100
Biomarker
disease
HPO
×
Entrez Id:
5293
Gene Symbol:
PIK3CD
PIK3CD
0.010
GeneticVariation
disease
BEFREE
PSC is a novel phenotype of GOF mutation in PIK3CD .
25352054
2015
×
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:
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:
4311
Gene Symbol:
MME
MME
0.010
Biomarker
disease
BEFREE
CD10 (+) PSC s significantly increased the tumor growth and invasiveness of SUIT-2 cells in a murine cotransplantation model.
20685603
2010
×
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:
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:
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:
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:
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:
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:
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:
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:
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