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: 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: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2007 2007
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: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 43
Gene Symbol: ACHE
ACHE
acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100
Gene Symbol: ADA
ADA
adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.020 None 1.000 2 0 2019 2020
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17
ADAM metallopeptidase domain 17 0.453 0.808 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
activator of HSP90 ATPase activity 1 0.396 0.923 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2013 2013
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: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 216
Gene Symbol: ALDH1A1
ALDH1A1
aldehyde dehydrogenase 1 family member A1 0.460 0.846 0.95
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 9181
Gene Symbol: ARHGEF2
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2 0.502 0.769 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 339541
Gene Symbol: ARMH1
ARMH1
armadillo like helical domain containing 1 0.553 0.692 1.6E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 414
Gene Symbol: ARSD
ARSD
arylsulfatase D 0.535 0.808 1.6E-03
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 374569
Gene Symbol: ASPG
ASPG
asparaginase 0.559 0.654 6.2E-13
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 467
Gene Symbol: ATF3
ATF3
activating transcription factor 3 0.494 0.885 8.9E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2005 2005
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: 581
Gene Symbol: BAX
BAX
BCL2 associated X, apoptosis regulator 0.417 0.885 0.32
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2019 2019
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: 8419
Gene Symbol: BFSP2
BFSP2
beaded filament structural protein 2 0.686 0.385 3.2E-08
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.010 None 1.000 1 0 2018 2018