Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 Biomarker disease BEFREE β-Catenin and interleukin-1β-dependent chemokine (C-X-C motif) ligand 10 production drives progression of disease in a mouse model of congenital hepatic fibrosis. 29140564 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.170 GeneticVariation disease BEFREE We identified two missense variants in the PKHD1 gene which were strongly, but not perfectly associated with congenital hepatic fibrosis. 25295861 2014
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
0.010 GeneticVariation disease BEFREE They demonstrate that levels of the miRNA miR15a are decreased in livers of patients with autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fibrosis as well as in the PKC rat model of ARPKD. 18949060 2008
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.010 GeneticVariation disease BEFREE They demonstrate that levels of the miRNA miR15a are decreased in livers of patients with autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fibrosis as well as in the PKC rat model of ARPKD. 18949060 2008
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB
0.010 GeneticVariation disease BEFREE They demonstrate that levels of the miRNA miR15a are decreased in livers of patients with autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fibrosis as well as in the PKC rat model of ARPKD. 18949060 2008
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.170 Biomarker disease BEFREE They demonstrate that levels of the miRNA miR15a are decreased in livers of patients with autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fibrosis as well as in the PKC rat model of ARPKD. 18949060 2008
Entrez Id: 406948
Gene Symbol: MIR15A
MIR15A
0.010 AlteredExpression disease BEFREE They demonstrate that levels of the miRNA miR15a are decreased in livers of patients with autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fibrosis as well as in the PKC rat model of ARPKD. 18949060 2008
Entrez Id: 1674
Gene Symbol: DES
DES
0.010 Biomarker disease BEFREE Stellate cells were cultured from livers exhibiting congenital hepatic fibrosis and confirmed by desmin staining. 10204502 1999
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.170 GeneticVariation disease BEFREE Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. 30507656 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.200 Biomarker disease RGD Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. 20400910 2010
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
0.100 CausalMutation disease CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.400 Biomarker disease GENOMICS_ENGLAND Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
0.100 CausalMutation disease CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
0.410 Biomarker disease GENOMICS_ENGLAND MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
0.010 AlteredExpression disease BEFREE It has been hypothesized that fibrosis in congenital hepatic fibrosis may be caused by upregulation of transforming growth factor-beta1 and thrombospondin-1, and that the hepatic stellate cell may be the mediator of these proteins. 10204502 1999
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 AlteredExpression disease BEFREE It has been hypothesized that fibrosis in congenital hepatic fibrosis may be caused by upregulation of transforming growth factor-beta1 and thrombospondin-1, and that the hepatic stellate cell may be the mediator of these proteins. 10204502 1999
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.170 GeneticVariation disease BEFREE In the current study we retrospectively reviewed the clinical records, and where possible performed PKHD1 mutation screening, in patients diagnosed with ARPKD or congenital hepatic fibrosis at the Mayo Clinic, Rochester, MN, from 1961 to 2004. 16523049 2006
Entrez Id: 102724197
Gene Symbol: LOC102724197
LOC102724197
0.010 AlteredExpression disease BEFREE In a 20-year-old Korean man, we found cerebellar ataxia, isolated elevation in serum γ-glutamyl transpeptidase (γ-GTP) activity, oligophrenia, the molar tooth sign (MTS) in the brain MR images and congenital hepatic fibrosis (CHF). 28860541 2017
Entrez Id: 92086
Gene Symbol: GGTLC1
GGTLC1
0.010 AlteredExpression disease BEFREE In a 20-year-old Korean man, we found cerebellar ataxia, isolated elevation in serum γ-glutamyl transpeptidase (γ-GTP) activity, oligophrenia, the molar tooth sign (MTS) in the brain MR images and congenital hepatic fibrosis (CHF). 28860541 2017
Entrez Id: 282617
Gene Symbol: IFNL3
IFNL3
0.300 Biomarker disease CTD_human IFN-λ3, not IFN-λ4, likely mediates IFNL3-IFNL4 haplotype-dependent hepatic inflammation and fibrosis. 28394349 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.400 Biomarker disease GENOMICS_ENGLAND Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 18513680 2008
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
0.100 CausalMutation disease CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.010 AlteredExpression disease BEFREE Diffuse expression of heparan sulfate proteoglycan and connective tissue growth factor in fibrous septa with many mast cells relate to unresolving hepatic fibrosis of congenital hepatic fibrosis. 15998433 2005
Entrez Id: 960
Gene Symbol: CD44
CD44
0.010 AlteredExpression disease BEFREE Diffuse expression of heparan sulfate proteoglycan and connective tissue growth factor in fibrous septa with many mast cells relate to unresolving hepatic fibrosis of congenital hepatic fibrosis. 15998433 2005
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
0.100 CausalMutation disease CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017