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: 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 1 1 1983 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 1 17 1993 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 1 1 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 1 1 1994 2020
Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
lin-28 homolog B 0.556 0.654 0.56
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease 0.900 None 1.000 1 1 2012 2020
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 0.800 disputed 0.929 1 12 1998 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease 0.800 None 0.833 1 1 2007 2018
Entrez Id: 10318
Gene Symbol: TNIP1
TNIP1
TNFAIP3 interacting protein 1 0.564 0.769 0.48
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.926 1 1 2009 2019
Entrez Id: 2113
Gene Symbol: ETS1
ETS1
ETS proto-oncogene 1, transcription factor 0.444 0.731 0.78
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.957 1 1 2000 2019
Entrez Id: 217
Gene Symbol: ALDH2
ALDH2
aldehyde dehydrogenase 2 family member 0.457 0.885 3.4E-10
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease 0.700 None 1.000 1 1 1991 2019
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C0028754
Disease: Obesity
Obesity
disease 0.700 moderate 0.906 1 1 2009 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: C0010346
Disease: Crohn Disease
Crohn Disease
disease 0.700 None 0.880 1 4 1994 2019
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: C0027404
Disease: Narcolepsy
Narcolepsy
disease 0.700 None 0.870 1 2 1993 2013
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: C0036202
Disease: Sarcoidosis
Sarcoidosis
disease 0.700 None 0.938 1 131 1994 2019
Entrez Id: 3596
Gene Symbol: IL13
IL13
interleukin 13 0.386 0.846 1.4E-02
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease 0.700 None 0.990 1 3 1996 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease 0.700 None 0.984 1 1 1980 2020
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
CUI: C0028754
Disease: Obesity
Obesity
disease 0.700 None 0.930 1 1 1966 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
disease 0.700 None 0.953 1 2 1995 2019
Entrez Id: 490
Gene Symbol: ATP2B1
ATP2B1
ATPase plasma membrane Ca2+ transporting 1 0.666 0.500 1.00
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.700 None 0.966 1 1 1999 2019
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease 0.700 None 1.000 1 1 2013 2020
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease 0.700 limited 0.977 1 1 2007 2020
Entrez Id: 55024
Gene Symbol: BANK1
BANK1
B cell scaffold protein with ankyrin repeats 1 0.653 0.538 4.8E-12
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.955 1 2 2008 2019
Entrez Id: 5649
Gene Symbol: RELN
RELN
reelin 0.515 0.731 1.00
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease 0.700 None 0.909 1 1 1998 2020
Entrez Id: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease 0.700 None 0.975 1 1 1992 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 1 11 1993 2019