abnormal enzyme/coenzyme activity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. (Human Phenotype Ontology, HP_0012379)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012379
Similar Terms
Downloads & Tools

Genes

35 genes associated with the abnormal enzyme/coenzyme activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
AKR1D1 aldo-keto reductase family 1, member D1
ALPL alkaline phosphatase, liver/bone/kidney
CAT catalase
COG4 component of oligomeric golgi complex 4
CSF3R colony stimulating factor 3 receptor (granulocyte)
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
FKBP10 FK506 binding protein 10, 65 kDa
HNF1B HNF1 homeobox B
LBR lamin B receptor
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PRKCSH protein kinase C substrate 80K-H
PTH1R parathyroid hormone 1 receptor
SC5D sterol-C5-desaturase
SEC63 SEC63 homolog (S. cerevisiae)
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SOST sclerostin
SQSTM1 sequestosome 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor