congenital hepatic fibrosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of fibrosis of that part of the liver with congenital onset. (Human Phenotype Ontology, HP_0002612)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002612
Similar Terms
Downloads & Tools

Genes

38 genes associated with the congenital hepatic fibrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARHGAP31 Rho GTPase activating protein 31
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
CC2D2A coiled-coil and C2 domain containing 2A
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
HAMP hepcidin antimicrobial peptide
HFE2 hemochromatosis type 2 (juvenile)
IFT80 intraflagellar transport 80
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
LIPA lipase A, lysosomal acid, cholesterol esterase
MKS1 Meckel syndrome, type 1
MPI mannose phosphate isomerase
NOTCH1 notch 1
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SDCCAG8 serologically defined colon cancer antigen 8
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60