Source: ALL

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: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.100 None 1.000 13 0 2013 2019
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
pancreatic and duodenal homeobox 1 0.530 0.654 1.8E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.090 None 0.889 9 0 1999 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.070 None 0.714 7 0 1994 2013
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
pancreas associated transcription factor 1a 0.601 0.692 0.17
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 0.667 3 0 2014 2018
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 1996 1997
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2008 2011
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2004 2019
Entrez Id: 10370
Gene Symbol: CITED2
CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2005 2012
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2009 2018
Entrez Id: 1432
Gene Symbol: MAPK14
MAPK14
mitogen-activated protein kinase 14 0.379 0.923 0.37
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 0.500 2 0 2002 2012
Entrez Id: 7849
Gene Symbol: PAX8
PAX8
paired box 8 0.477 0.731 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2010 2019
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
Wnt family member 5A 0.443 0.808 0.99
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2016 2019
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 1994 2006
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2006 2019
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2007 2008
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B
Wnt family member 10B 0.576 0.654 3.6E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2008 2013
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
HESX homeobox 1 0.561 0.654 8.0E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2005 2006
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
paired box 1 0.593 0.654 0.70
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 1997 2017
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
transforming growth factor alpha 0.432 0.885 0.72
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2004 2012
Entrez Id: 9077
Gene Symbol: DIRAS3
DIRAS3
DIRAS family GTPase 3 0.631 0.385
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2008 2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2018 2020
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 0.500 2 0 2011 2014
Entrez Id: 9313
Gene Symbol: MMP20
MMP20
matrix metallopeptidase 20 0.663 0.538 6.1E-14
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2011 2016
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2011 2011