Source: ALL

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: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 strong 0.985 1565 24 1993 2020
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 1553 16 1997 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 1524 212 1994 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease 0.600 None 0.983 1494 32 1988 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.700 None 0.950 1468 54 1994 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype 0.100 None 0.962 1455 23 1990 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.400 None 0.953 1448 13 1983 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 1388 20 2002 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.100 None 0.943 1380 16 1981 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.800 strong 0.965 1349 37 1992 2020
Entrez Id: 596
Gene Symbol: BCL2
BCL2 		BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group 0.100 None 0.989 1317 2 1988 2020
Entrez Id: 3064
Gene Symbol: HTT
HTT 		huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease 1.000 limited 0.987 1305 21 1993 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.500 None 0.985 1300 33 1988 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease 0.100 None 0.985 1270 31 1988 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease 0.200 None 0.966 1199 24 1992 2020
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 1183 43 1982 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.700 None 0.965 1174 87 1992 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 1169 49 1982 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.400 None 0.977 1148 18 1987 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease 0.700 None 0.978 1148 33 1990 2020
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease 1.000 strong 0.980 1125 152 1981 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.500 None 0.964 1117 19 1993 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 1097 32 1992 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 1053 8 1998 2020
Entrez Id: 238
Gene Symbol: ALK
ALK 		ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease 0.600 None 0.990 1046 11 2007 2020