abnormality of exocrine pancreas physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. (Human Phenotype Ontology, HP_0012092)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012092
Similar Terms
Downloads & Tools

Genes

20 genes associated with the abnormality of exocrine pancreas physiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARX aristaless related homeobox
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEL carboxyl ester lipase
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CTNS cystinosin, lysosomal cystine transporter
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
HAMP hepcidin antimicrobial peptide
HFE2 hemochromatosis type 2 (juvenile)
HNF1B HNF1 homeobox B
JAG1 jagged 1
MEN1 multiple endocrine neoplasia I
OFD1 oral-facial-digital syndrome 1
PDX1 pancreatic and duodenal homeobox 1
PRSS1 protease, serine, 1 (trypsin 1)
SBDS Shwachman-Bodian-Diamond syndrome
SPINK1 serine peptidase inhibitor, Kazal type 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1