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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 1.000 None 0.961 306 101 1972 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.430 None 1.000 9 6 2005 2016
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.110 None 1.000 1 4 2013 2013
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1 		ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.010 None 1.000 1 3 2015 2015
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN 		killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.370 None 1.000 7 2 2010 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.450 None 1.000 5 2 2008 2015
Entrez Id: 149233
Gene Symbol: IL23R
IL23R 		interleukin 23 receptor 0.466 0.769 5.6E-04
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.040 None 1.000 4 2 2008 2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.320 None 1.000 2 2 2015 2017
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 2 2017 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2 		nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.100 None 1.000 13 1 2004 2013
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.050 None 0.800 5 1 2001 2015
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: 6652
Gene Symbol: SORD
SORD 		sorbitol dehydrogenase 0.552 0.769 4.5E-08
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 1 2008 2012
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.030 None 1.000 3 1 2011 2017
Entrez Id: 7099
Gene Symbol: TLR4
TLR4 		toll like receptor 4 0.321 0.962 4.6E-09
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 1 2007 2010
Entrez Id: 3601
Gene Symbol: IL15RA
IL15RA 		interleukin 15 receptor subunit alpha 0.603 0.769 2.3E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.020 None 1.000 2 1 2013 2017
Entrez Id: 1000
Gene Symbol: CDH2
CDH2 		cadherin 2 0.535 0.731 0.99
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 112744
Gene Symbol: IL17F
IL17F 		interleukin 17F 0.480 0.808 3.9E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		torsin family 1 member A 0.566 0.731 5.1E-04
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.010 None 1.000 1 1 2016 2016
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6 		transmembrane serine protease 6 0.584 0.654 4.1E-10
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 0.010 None 1.000 1 1 2018 2018
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: 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