Source: CURATED

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: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.600 None 0.971 77 0 1979 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.400 None 0.989 68 0 1974 2020
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.400 None 0.973 58 0 1989 2020
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 40 13 1987 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.600 None 0.974 33 0 1991 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 21 0 1990 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 19 40 1995 2020
Entrez Id: 5350
Gene Symbol: PLN
PLN 		phospholamban 0.595 0.577 0.45
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.700 definitive 1.000 18 3 1993 2019
Entrez Id: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.600 None 0.969 17 0 1975 2020
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0751292
Disease: Age-Related Memory Disorders
Age-Related Memory Disorders 		group 0.300 None 1.000 16 0 2004 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.600 None 0.984 15 0 1997 2019
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		endothelin 1 0.380 0.846 0.46
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.600 None 0.983 14 0 1993 2020
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 14 5 1988 2020
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group 0.900 definitive 0.976 14 23 1990 2019
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group 0.300 None 1.000 14 0 1988 2010
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.640 definitive 1.000 13 283 1991 2017
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		interleukin 2 receptor subunit gamma 0.535 0.769 0.99
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group 0.800 strong 0.965 13 40 1989 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group 0.700 definitive 0.963 12 4 1996 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.640 definitive 1.000 12 143 1986 2018
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 12 58 1976 2019
Entrez Id: 1392
Gene Symbol: CRH
CRH 		corticotropin releasing hormone 0.439 0.808 0.72
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group 0.400 None 1.000 11 0 1994 2020
Entrez Id: 354
Gene Symbol: KLK3
KLK3 		kallikrein related peptidase 3 0.443 0.885 4.4E-06
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.400 None 0.988 11 0 1991 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0013221
Disease: Drug toxicity
Drug toxicity 		group 0.300 None 1.000 11 0 2005 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		group 0.300 None 1.000 11 0 2005 2016