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: 7124
Gene Symbol: TNF
TNF 		tumor necrosis factor 0.231 0.962 0.80
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.100 None 0.917 12 0 2000 2019
Entrez Id: 7011
Gene Symbol: TEP1
TEP1 		telomerase associated protein 1 0.621 0.654 4.4E-49
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.060 None 1.000 6 0 1998 2002
Entrez Id: 3586
Gene Symbol: IL10
IL10 		interleukin 10 0.281 0.923 5.9E-03
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.050 None 1.000 5 0 2000 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.040 None 1.000 4 0 1996 2010
Entrez Id: 130497
Gene Symbol: OSR1
OSR1 		odd-skipped related transcription factor 1 0.603 0.615 0.86
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.040 None 1.000 4 0 1998 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.040 None 1.000 4 0 1998 2014
Entrez Id: 1401
Gene Symbol: CRP
CRP 		C-reactive protein 0.299 0.962 3.7E-03
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 354
Gene Symbol: KLK3
KLK3 		kallikrein related peptidase 3 0.443 0.885 4.4E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2017 2019
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: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		major histocompatibility complex, class II, DQ alpha 1 0.416 0.846 2.4E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 1999 2011
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 0.667 3 0 1996 2016
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8 		acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 0.667 3 0 2007 2019
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: 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: 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: 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: 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: 1757
Gene Symbol: SARDH
SARDH 		sarcosine dehydrogenase 0.523 0.846 5.3E-16
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 0 2008 2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 0.667 3 0 2000 2018
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: 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: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2015
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: 2071
Gene Symbol: ERCC3
ERCC3 		ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 0 2007 2015