Source: BEFREE

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: 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 2803 106 1992 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 1864 104 1989 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.700 None 0.955 2673 102 1992 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 688 87 1964 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease 0.800 strong 0.977 619 83 1975 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 0.947 6572 76 1987 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 1.000 definitive 0.984 242 65 1995 2020
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.900 None 0.981 2446 58 1987 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.971 641 56 1990 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease 0.400 None 0.958 152 50 1995 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 1505 47 1994 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 1462 46 1994 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		disease 0.700 strong 0.953 475 45 1992 2020
Entrez Id: 5053
Gene Symbol: PAH
PAH 		phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group 0.800 None 0.985 335 45 1977 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 1178 43 1982 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 1165 43 1982 2020
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.700 None 0.980 251 43 1993 2020
Entrez Id: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease 0.200 None 0.977 400 42 1975 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease 0.400 None 0.971 295 42 1988 2020
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.500 None 0.990 204 42 1995 2020
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease 0.900 strong 0.958 219 41 1990 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 3362 40 1983 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.400 None 0.966 3054 40 1986 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.700 None 0.968 2989 40 1981 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.100 None 0.969 2979 38 1987 2020