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: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease 0.800 None 0.984 32 0 2005 2020
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.600 None 0.974 32 0 1998 2020
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1 		major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease 0.500 None 0.936 31 0 1989 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.959 27 0 1990 2020
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		myocilin 0.595 0.500 7.6E-12
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		disease 0.700 None 0.987 26 0 1996 2019
Entrez Id: 613
Gene Symbol: BCR
BCR 		BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease 0.700 None 0.969 26 0 1980 2020
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13 		ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		disease 0.700 strong 0.976 25 0 1997 2020
Entrez Id: 23621
Gene Symbol: BACE1
BACE1 		beta-secretase 1 0.559 0.769 0.88
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.600 None 0.985 25 0 1999 2020
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.200 None 0.916 25 0 1994 2020
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2 		prostaglandin-endoperoxide synthase 2 0.314 0.962 1.00
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.400 None 0.987 25 0 1997 2019
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.700 None 0.980 25 0 1993 2019
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.500 None 0.979 24 0 1984 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease 0.400 None 0.927 24 0 1995 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF 		tumor necrosis factor 0.231 0.962 0.80
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease 0.700 None 0.975 24 0 1989 2020
Entrez Id: 2157
Gene Symbol: F8
F8 		coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease 1.000 definitive 0.983 23 0 1977 2020
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		disease 1.000 None 0.972 23 0 1976 2020
Entrez Id: 27185
Gene Symbol: DISC1
DISC1 		DISC1 scaffold protein 0.548 0.769 1.7E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.600 None 0.947 23 0 2001 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 23 0 1964 2020
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease 1.000 definitive 0.980 23 0 1983 2020
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease 1.000 strong 0.980 23 0 1988 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 23 0 1995 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.968 22 0 2005 2020
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.400 None 0.932 22 0 1998 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 21 0 1981 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 21 0 1993 2020