portal hypertension Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001409
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Genes

26 genes associated with the portal hypertension phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ALMS1 Alstrom syndrome protein 1
ARHGAP31 Rho GTPase activating protein 31
CC2D2A coiled-coil and C2 domain containing 2A
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CLDN1 claudin 1
CTNS cystinosin, lysosomal cystine transporter
DGUOK deoxyguanosine kinase
DOCK6 dedicator of cytokinesis 6
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
F5 coagulation factor V (proaccelerin, labile factor)
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF2 growth differentiation factor 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAK2 Janus kinase 2
MPL MPL proto-oncogene, thrombopoietin receptor
NOTCH1 notch 1
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RPGRIP1L RPGRIP1-like
SMAD4 SMAD family member 4
TET2 tet methylcytosine dioxygenase 2
TJP2 tight junction protein 2
TMEM67 transmembrane protein 67