Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23436
Gene Symbol: CELA3B
CELA3B
chymotrypsin like elastase 3B 0.686 0.346 2.4E-12
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.400 None 1.000 12 0 2003 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.200 None 1.000 25 16 1991 2019
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
pancreatic and duodenal homeobox 1 0.530 0.654 1.8E-02
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.130 None 0.667 3 1 2010 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
serine peptidase inhibitor Kazal type 1 0.492 0.808 0.31
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.130 None 1.000 3 1 2011 2019
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.120 None 0.500 2 0 2013 2013
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
ubiquitin protein ligase E3 component n-recognin 1 0.612 0.731 5.5E-03
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.110 None 1.000 1 0 2006 2006
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 1056
Gene Symbol: CEL
CEL
carboxyl ester lipase 0.514 0.808 1.5E-06
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.110 None 1.000 1 0 2012 2012
Entrez Id: 84701
Gene Symbol: COX4I2
COX4I2
cytochrome c oxidase subunit 4I2 0.716 0.500 1.4E-04
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.110 None 1.000 1 0 2009 2009
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1
ATPase H+ transporting accessory protein 1 0.691 0.577 0.99
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 8462
Gene Symbol: KLF11
KLF11
Kruppel like factor 11 0.626 0.654 8.3E-09
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
dynactin subunit 4 0.472 0.846 0.73
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
paired box 4 0.644 0.423 4.2E-04
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 4760
Gene Symbol: NEUROD1
NEUROD1
neuronal differentiation 1 0.543 0.808 0.77
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
serine protease 1 0.563 0.692 4.1E-11
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 1
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
serine protease 2 0.628 0.769
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease 0.100 None 0 0