Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.410 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.410 GeneticVariation disease BEFREE Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 19508969 2009
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: 91147
Gene Symbol: TMEM67
TMEM67 		0.410 Biomarker disease HPO
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: 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: 57545
Gene Symbol: CC2D2A
CC2D2A 		0.400 Biomarker disease HPO
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: 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: 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: 5314
Gene Symbol: PKHD1
PKHD1 		0.170 GeneticVariation disease BEFREE Congenital hepatic fibrosis (CHF) is a genetic liver disease caused by mutations of the PKHD1 gene. 30898581 2019
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: 5314
Gene Symbol: PKHD1
PKHD1 		0.170 GeneticVariation disease BEFREE Autosomal recessive polycystic kidney disease (ARPKD), characterized by progressive cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF), is the most common childhood onset ciliopathy, with an estimated frequency of 1 in 20,000 births.It is caused by mutations in PKHD1. 21945273 2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		0.170 GeneticVariation disease BEFREE PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010
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: 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: 5314
Gene Symbol: PKHD1
PKHD1 		0.170 Biomarker disease HPO
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
Entrez Id: 100506134
Gene Symbol: TTC21B-AS1
TTC21B-AS1 		0.100 CausalMutation disease CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017
Entrez Id: 100506134
Gene Symbol: TTC21B-AS1
TTC21B-AS1 		0.100 CausalMutation disease CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.100 CausalMutation disease CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
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: 282809
Gene Symbol: POC1B
POC1B 		0.100 CausalMutation disease CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
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: 84314
Gene Symbol: TMEM107
TMEM107 		0.100 Biomarker disease HPO