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: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.352 0.862 1.8E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.800 0.971 3236 15 1987 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 3087 24 1983 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.355 0.897 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 0.972 2628 26 1981 2018
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.352 0.862 1.8E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.600 0.976 2596 15 1987 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.352 0.931 1.7E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease 0.700 0.922 2356 11 1991 2018
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 2277 131 1987 2018
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.325 0.862 0.50
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease 0.700 0.974 2223 35 1989 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 0.942 2152 50 1987 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 0.948 1772 445 1989 2018
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease 0.900 0.967 1764 39 1987 2018
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.475 0.690 1.00
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease 0.800 0.970 1511 21 1983 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.800 strong 0.947 1491 34 1992 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 0.700 0.980 1421 17 1985 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease 0.100 0.979 1398 8 1990 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 1290 40 1989 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease 0.400 0.946 1237 26 1992 2018
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 1228 31 1986 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.406 0.931 0.13
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.700 0.964 1220 19 1993 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 1042 21 1983 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 0.955 1012 27 1989 2018
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 0.966 999 17 1983 2018
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease 0.400 0.971 914 22 1988 2018
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.579 0.517 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 0.900 0.971 874 16 1993 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.475 0.828 9.4E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease 0.900 strong 0.958 834 1137 1964 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.700 0.954 831 691 1990 2018