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: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2005 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.330 None 1.000 3 0 2002 2013
Entrez Id: 7052
Gene Symbol: TGM2
TGM2 		transglutaminase 2 0.445 0.808 6.8E-18
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2013 2017
Entrez Id: 10993
Gene Symbol: SDS
SDS 		serine dehydratase 0.534 0.769 1.4E-04
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2008 2012
Entrez Id: 3605
Gene Symbol: IL17A
IL17A 		interleukin 17A 0.324 0.923 4.3E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2010 2018
Entrez Id: 4680
Gene Symbol: CEACAM6
CEACAM6 		CEA cell adhesion molecule 6 0.561 0.731 1.2E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2011 2018
Entrez Id: 55054
Gene Symbol: ATG16L1
ATG16L1 		autophagy related 16 like 1 0.543 0.769 0.96
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 1 2008 2011
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3 		solute carrier family 12 member 3 0.493 0.808 3.0E-32
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2004 2005
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1 		nuclear receptor subfamily 3 group C member 1 0.393 0.885 0.97
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2002 2005
Entrez Id: 7097
Gene Symbol: TLR2
TLR2 		toll like receptor 2 0.361 0.923 1.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2008 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI 		transforming growth factor beta induced 0.484 0.769 6.0E-08
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2016 2019
Entrez Id: 6750
Gene Symbol: SST
SST 		somatostatin 0.399 0.885 0.34
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2015 2018
Entrez Id: 54997
Gene Symbol: TESC
TESC 		tescalcin 0.570 0.692 0.11
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2004 2005
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 1998 2005
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1 		general transcription factor IIH subunit 1 0.469 0.846 0.99
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2015
Entrez Id: 2966
Gene Symbol: GTF2H2
GTF2H2 		general transcription factor IIH subunit 2 0.650 0.577 1.6E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2015
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5 		general transcription factor IIH subunit 5 0.556 0.769 4.5E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2015
Entrez Id: 4049
Gene Symbol: LTA
LTA 		lymphotoxin alpha 0.434 0.885 0.20
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2000 2006
Entrez Id: 406991
Gene Symbol: MIR21
MIR21 		microRNA 21 0.363 0.846
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2008 2017
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2013 2020
Entrez Id: 50941
Gene Symbol: IBD5
IBD5 		inflammatory bowel disease 5 0.705 0.538
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2006 2010
Entrez Id: 5324
Gene Symbol: PLAG1
PLAG1 		PLAG1 zinc finger 0.493 0.808 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2011
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2011