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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 0.972 0 0 1986 2018
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CCAAT enhancer binding protein alpha 0.533 0.586 0.56
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 0.987 0 0 1993 2018
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related tyrosine kinase 3 0.503 0.517 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 0.979 0 0 1992 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 0.945 0 0 2005 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 0.940 0 0 1998 2018
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.554 0.655 3.3E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 1.000 0 0 1996 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.382 0.724 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease 1.000 0.917 0 0 1983 2018
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease 1.000 0.971 0 0 1988 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C1261473
Disease: Sarcoma
Sarcoma
group 1.000 strong 0.950 0 0 1987 2018
Entrez Id: 580
Gene Symbol: BARD1
BARD1
BRCA1 associated RING domain 1 0.624 0.379 2.2E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 0.912 0 0 1997 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 strong 0.942 0 0 1987 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 strong 0.952 0 0 1989 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.355 0.897 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 0.970 0 0 1983 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
disease 0.900 0.957 0 0 1996 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
group 0.900 0.926 0 0 1983 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 0.968 0 0 2001 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.435 0.759 1.00
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease 0.900 0 0 1998 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.435 0.759 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.900 1.000 0 0 1997 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 strong 0.966 0 0 1983 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0017638
Disease: Glioma
Glioma
disease 0.900 0.936 0 0 1991 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease 0.900 1.000 0 0 1993 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease 0.900 0.953 0 0 1992 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.900 0.967 0 0 1983 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 0.900 0.945 0 0 1990 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.840 1.000 0 0 1999 2016