Source: CLINVAR

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: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.500 None 0.944 1 7 1984 2020
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.500 None 0.960 1 4 1987 2020
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.500 None 0.967 1 6 1983 2020
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.500 None 0.946 0 2 1995 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.947 5 6 1987 2020
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.960 3 9 1998 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.941 2 3 1998 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.946 2 10 2002 2020
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.945 2 2 1987 2020
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.927 2 7 1996 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.976 1 1 1997 2020
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.972 1 3 1988 2019
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.940 1 2 1989 2020
Entrez Id: 6714
Gene Symbol: SRC
SRC
SRC proto-oncogene, non-receptor tyrosine kinase 0.467 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.983 1 1 1987 2019
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.976 1 7 1998 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.977 1 1 1998 2020
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.953 1 2 1989 2020
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.926 1 1 1986 2020
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.975 1 4 1983 2019
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.967 1 4 1991 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.964 1 2 1994 2020
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
erb-b2 receptor tyrosine kinase 3 0.448 0.808 1.7E-15
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.962 1 2 1993 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.955 1 2 1994 2020
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.971 0 2 1990 2020
Entrez Id: 100270680
Gene Symbol: CASC11
CASC11
cancer susceptibility 11 0.641 0.577
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.140 None 1.000 1 5 2014 2019