Peutz-Jeghers Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3852)
External Link https://www.disgenet.org/browser/0/1/0/C0031269
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
APC adenomatous polyposis coli
APRT adenine phosphoribosyltransferase
ARID3A AT rich interactive domain 3A (BRIGHT-like)
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
CAB39 calcium binding protein 39
CDC37 cell division cycle 37
CDKN2A cyclin-dependent kinase inhibitor 2A
CDX2 caudal type homeobox 2
CENPJ centromere protein J
CHEK2 checkpoint kinase 2
COX2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DEFA5 defensin, alpha 5, Paneth cell-specific
EGFR epidermal growth factor receptor
ENG endoglin
ESR1 estrogen receptor 1
F2R coagulation factor II (thrombin) receptor
FAP fibroblast activation protein, alpha
FNDC3A fibronectin type III domain containing 3A
GNAS GNAS complex locus
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IFITM1 interferon induced transmembrane protein 1
IL11 interleukin 11
INHA inhibin, alpha
KRAS Kirsten rat sarcoma viral oncogene homolog
LIAS lipoic acid synthetase
MAP2K4 mitogen-activated protein kinase kinase 4
MARK1 MAP/microtubule affinity-regulating kinase 1
MARK4 MAP/microtubule affinity-regulating kinase 4
MEN1 multiple endocrine neoplasia I
MFAP1 microfibrillar-associated protein 1
MSH6 mutS homolog 6
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUTYH mutY homolog
MYH11 myosin, heavy chain 11, smooth muscle
NEK6 NIMA-related kinase 6
NKX2-5 NK2 homeobox 5
NR1I2 nuclear receptor subfamily 1, group I, member 2
ODC1 ornithine decarboxylase 1
PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
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
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRH protein tyrosine phosphatase, receptor type, H
REN renin
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
STK11IP serine/threonine kinase 11 interacting protein
STRADA STE20-related kinase adaptor alpha
TESC tescalcin
TP53 tumor protein p53
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNT5A wingless-type MMTV integration site family, member 5A