hepatosplenomegaly Gene Set
Genes
25 genes associated with the hepatosplenomegaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
CA2
|
carbonic anhydrase II
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CTSA
|
cathepsin A
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
LBR
|
lamin B receptor
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LPL
|
lipoprotein lipase
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PSAP
|
prosaposin
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
SC5D
|
sterol-C5-desaturase
|
|
STXBP2
|
syntaxin binding protein 2
|
|
TALDO1
|
transaldolase 1
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TREX1
|
three prime repair exonuclease 1
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
