Gardner Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term). (Orphanet Rare Disease Ontology, Orphanet_79665)
External Link https://www.disgenet.org/browser/0/1/0/C0017097
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Genes

28 genes associated with the disease Gardner Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
APC adenomatous polyposis coli
CD44 CD44 molecule (Indian blood group)
CD46 CD46 molecule, complement regulatory protein
CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DPEP1 dipeptidase 1 (renal)
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
FAP fibroblast activation protein, alpha
G6PD glucose-6-phosphate dehydrogenase
GCK glucokinase (hexokinase 4)
KIF3A kinesin family member 3A
LEP leptin
MAPRE1 microtubule-associated protein, RP/EB family, member 1
MLH1 mutL homolog 1
PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PSG2 pregnancy specific beta-1-glycoprotein 2
PTCH1 patched 1
RBP4 retinol binding protein 4, plasma
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
XPA xeroderma pigmentosum, complementation group A