exocrine pancreatic insufficiency Gene Set
Genes
19 genes associated with the exocrine pancreatic insufficiency 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)
|
|
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
|
