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: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.200 None 1.000 113 13 1992 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.180 None 1.000 172 59 1994 2017
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.180 None 1.000 19 23 2011 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.170 None 1.000 367 203 1989 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.160 None 1.000 152 183 1997 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.150 None 1.000 749 705 1975 2019
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.150 None 1.000 303 189 1978 2018
Entrez Id: 2271
Gene Symbol: FH
FH
fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.150 None 1.000 75 63 1997 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.130 None 1.000 704 1021 1996 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.130 None 1.000 323 309 1990 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
cadherin 1 0.401 0.808 0.15
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.130 None 1.000 68 87 1994 2019
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.120 None 1.000 41 64 1992 2018
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.120 None 1.000 13 90 2009 2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 191 331 1994 2018
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 160 257 1991 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 135 49 1994 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 127 71 1995 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 113 124 1995 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 31 29 1994 2017
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 19 60 1997 2019
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
succinate dehydrogenase complex assembly factor 2 0.604 0.692 2.8E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 7 3 2009 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 233 561 1989 2018
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 187 321 1994 2017
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 159 220 1996 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 139 215 1990 2018