Source: CGI

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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease 0.900 None 1.000 0 0 1993 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.900 None 0.971 0 0 1982 2020
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease 0.900 None 1.000 0 0 1995 2019
Entrez Id: 841
Gene Symbol: CASP8
CASP8
caspase 8 0.404 0.923 3.7E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 0.900 None 1.000 0 0 1998 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0025202
Disease: melanoma
melanoma
disease 0.800 strong 0.950 0 0 1994 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease 0.800 None 1.000 0 0 1996 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.800 None 0.963 0 0 2001 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.800 None 0.979 0 0 1998 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 0.800 strong 0.982 0 0 1998 2020
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group 0.800 None 0.960 0 0 2009 2019
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 0.800 limited 0.955 0 0 2009 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.800 None 0.970 0 0 1987 2020
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
ETS variant transcription factor 6 0.477 0.731 0.97
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 0.800 strong 0.981 0 0 1995 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
Malignant neoplasm of urinary bladder
disease 0.800 None 0.979 0 0 1999 2019
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related receptor tyrosine kinase 3 0.462 0.654 0.61
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease 0.800 None 1.000 0 0 2004 2020
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
disease 0.800 definitive 0.982 0 0 2006 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group 0.800 limited 0.971 0 0 2011 2020
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease 0.800 None 0.983 0 0 1982 2020
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
GATA binding protein 2 0.496 0.654 0.98
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 0.800 None 0.974 0 0 1994 2020
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease 0.800 None 0.938 0 0 1997 2019
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
G protein subunit alpha 11 0.563 0.731 0.89
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease 0.800 None 0.977 0 0 2010 2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease 0.800 None 0.984 0 0 2008 2019
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease 0.800 None 0.968 0 0 1999 2020
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
disease 0.800 None 1.000 0 0 1993 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0025202
Disease: melanoma
melanoma
disease 0.800 None 1.000 0 0 1984 2018