esophageal varix Gene Set
Genes
18 genes associated with the esophageal varix 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
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
CBS
|
cystathionine-beta-synthase
|
|
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
|
|
JAK2
|
Janus kinase 2
|
|
KRT18
|
keratin 18, type I
|
|
KRT8
|
keratin 8, type II
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
NOTCH1
|
notch 1
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
SMAD4
|
SMAD family member 4
|
