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: 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: 718
Gene Symbol: C3
C3
complement C3 0.445 0.885 0.90
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.700 limited 1.000 6 1 2007 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: 629
Gene Symbol: CFB
CFB
complement factor B 0.532 0.769 4.7E-16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.700 limited 0.966 5 3 2006 2019
Entrez Id: 717
Gene Symbol: C2
C2
complement C2 0.617 0.692 1.3E-16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.680 limited 1.000 5 5 2006 2018
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.500 limited 0.940 4 7 2006 2019
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: 3080
Gene Symbol: CFHR2
CFHR2
complement factor H related 2 0.769 0.346 1.5E-08
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.410 limited 1.000 1 4 2008 2013
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: 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: 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: 10877
Gene Symbol: CFHR4
CFHR4
complement factor H related 4 0.839 0.346 2.4E-18
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.420 moderate 1.000 5 12 2008 2018
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
Finding of Mean Corpuscular Hemoglobin
phenotype 0.400 moderate 1.000 2 2 2010 2018
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
complement factor H related 3 0.663 0.462 1.7E-11
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.500 moderate 1.000 1 1 2006 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: 3078
Gene Symbol: CFHR1
CFHR1
complement factor H related 1 0.588 0.615 2.6E-08
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.500 moderate 1.000 1 3 2006 2017
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: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.700 strong 0.974 5 5 2002 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: 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: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease 0.500 strong 0.969 2 2 2008 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: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C0028754
Disease: Obesity
Obesity
disease 0.440 strong 1.000 1 1 2010 2019
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: 717
Gene Symbol: C2
C2
complement C2 0.617 0.692 1.3E-16
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.450 strong 1.000 1 2 1976 2015