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: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 1.000 definitive 0.992 258 77 1997 2019
Entrez Id: 1670
Gene Symbol: DEFA5
DEFA5
defensin alpha 5 0.695 0.423 5.2E-06
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.080 None 1.000 8 1 2000 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.070 None 1.000 7 0 1998 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.060 None 1.000 6 0 2000 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.050 None 1.000 5 0 2001 2018
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
prostaglandin-endoperoxide synthase 2 0.314 0.962 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.050 None 1.000 5 0 2002 2004
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.030 None 1.000 3 0 2003 2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.030 None 1.000 3 0 1999 2015
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.030 None 1.000 3 0 1999 2015
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
MT-CO2 pseudogene 12 0.368 0.962
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.030 None 1.000 3 0 2003 2003
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2013 2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2001
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.444 0.808 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2002
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2004 2005
Entrez Id: 8500
Gene Symbol: PPFIA1
PPFIA1
PTPRF interacting protein alpha 1 0.760 0.269 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2002
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
myosin heavy chain 11 0.528 0.731 0.77
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2008 2008
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 1999 2013
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2010 2011
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2005
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2002
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2005 2010
Entrez Id: 114790
Gene Symbol: STK11IP
STK11IP
serine/threonine kinase 11 interacting protein 0.861 0.192 8.6E-20
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 2001 2002
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 0.020 None 1.000 2 0 1993 1994