Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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(+) PSCs 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