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: 1050
Gene Symbol: CEBPA
CEBPA
CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 definitive 0.985 0 0 1992 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.967 0 0 1983 2020
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 None 0.985 0 0 1992 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.968 0 0 2005 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
disease 1.000 strong 0.989 0 0 1992 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 definitive 0.951 0 0 1995 2020
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 1.000 None 0.969 0 0 1994 2020
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.978 0 0 1995 2020
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease 1.000 None 0.977 0 0 1982 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
group 1.000 strong 0.941 0 0 1992 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.985 0 0 2001 2020
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease 1.000 None 0.960 0 0 1990 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 strong 0.956 0 0 1992 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 None 0.983 0 0 1986 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 strong 0.951 0 0 1994 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.973 0 0 1982 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1261473
Disease: Sarcoma
Sarcoma
group 1.000 strong 0.955 0 0 1987 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 1.000 None 0.959 0 0 1990 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.900 None 1.000 0 0 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.900 None 1.000 0 0 1998 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0023418
Disease: leukemia
leukemia
disease 0.900 strong 1.000 0 0 1998 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0024299
Disease: Lymphoma
Lymphoma
group 0.900 strong 0.955 0 0 1998 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.900 None 0.985 0 0 1997 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.900 None 0.947 0 0 1994 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0017638
Disease: Glioma
Glioma
disease 0.900 None 0.946 0 0 1991 2020