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: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease 1.000 moderate 0.937 12 20 1998 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
Diabetes Mellitus, Non-Insulin-Dependent
disease 1.000 None 0.942 3 2 1992 2019
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 2 2 1988 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 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: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.900 strong 0.943 11 3 1996 2019
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
Diabetes Mellitus, Insulin-Dependent
disease 0.900 None 0.945 4 1 2004 2020
Entrez Id: 2645
Gene Symbol: GCK
GCK
glucokinase 0.523 0.808 0.63
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.900 strong 0.953 2 2 1992 2020
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
interferon regulatory factor 6 0.486 0.769 1.00
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease 0.900 None 0.923 2 4 2003 2019
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.478 0.846 0.96
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.900 strong 0.954 2 2 1995 2019
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: 203228
Gene Symbol: C9orf72
C9orf72
C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.800 limited 0.985 5 13 2009 2020
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.800 None 0.978 5 5 1998 2019
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: 6934
Gene Symbol: TCF7L2
TCF7L2
transcription factor 7 like 2 0.485 0.846 1.00
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.700 None 0.965 25 9 2006 2020
Entrez Id: 54901
Gene Symbol: CDKAL1
CDKAL1
CDK5 regulatory subunit associated protein 1 like 1 0.617 0.615 1.6E-02
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.700 None 0.984 21 86 2007 2019
Entrez Id: 149233
Gene Symbol: IL23R
IL23R
interleukin 23 receptor 0.466 0.769 5.6E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease 0.700 None 0.950 13 19 2006 2020
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 11 32 1997 2020
Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
age-related maculopathy susceptibility 2 0.670 0.308 5.2E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.700 limited 0.951 10 3 2005 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.700 None 0.942 9 11 1991 2020
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease 0.700 None 0.899 9 4 2004 2019
Entrez Id: 55054
Gene Symbol: ATG16L1
ATG16L1
autophagy related 16 like 1 0.543 0.769 0.96
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease 0.700 None 0.953 8 5 2001 2020