Source: LHGDN

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 0.328 0.923 6.0E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.975 128 0 1987 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.976 120 0 1976 2019
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.600 None 1.000 116 0 1990 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.978 111 0 1988 2020
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A 		hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype 0.100 None 1.000 87 0 2002 2009
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 81 0 1987 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.600 None 0.984 80 0 1994 2019
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 78 0 1989 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 72 0 1992 2020
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.500 None 0.983 71 0 2002 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.700 None 0.984 66 0 1982 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.987 65 0 1995 2019
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		synuclein alpha 0.427 0.885 0.88
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.700 None 0.983 64 0 1997 2020
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.946 61 0 1991 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.600 None 0.950 58 0 1990 2019
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 55 0 1986 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease 0.700 None 0.994 52 0 1992 2019
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 51 0 1994 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.400 None 1.000 49 0 1997 2019
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 49 0 1990 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group 0.400 None 0.971 47 0 1988 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.800 None 0.974 43 0 1990 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.500 None 0.983 41 0 1990 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.964 40 0 2002 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease 1.000 None 0.975 39 0 2005 2020