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: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease 1.000 strong 0.980 67 46 1976 2019
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease 0.400 None 0.978 29 0 1983 2020
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C1563937
Disease: Atherogenesis
Atherogenesis 		phenotype 0.300 None 1.000 29 0 1997 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 strong 0.985 28 0 1993 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0393554
Disease: Amyotrophic Lateral Sclerosis With Dementia
Amyotrophic Lateral Sclerosis With Dementia 		disease 0.300 None 1.000 25 0 1995 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0543859
Disease: Amyotrophic Lateral Sclerosis, Guam Form
Amyotrophic Lateral Sclerosis, Guam Form 		disease 0.330 None 1.000 25 0 1995 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 1.000 strong 0.961 24 160 1989 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 1.000 definitive 0.977 22 180 1988 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease 0.600 None 0.973 19 0 1994 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease 0.400 None 1.000 19 0 1989 2020
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		disease 0.800 strong 0.977 16 10 1977 2020
Entrez Id: 7124
Gene Symbol: TNF
TNF 		tumor necrosis factor 0.231 0.962 0.80
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype 0.600 None 1.000 15 0 2001 2016
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 14 3 1983 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.700 None 0.968 14 4 1981 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease 0.300 None 1.000 14 0 2007 2016
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: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease 0.320 None 1.000 14 0 1982 2016
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 1.000 None 1.000 11 19 2002 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		disease 0.900 strong 1.000 11 8 2001 2018
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		disease 0.400 None 1.000 11 332 1991 2017
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2713443
Disease: Familial Intestinal Polyposis
Familial Intestinal Polyposis 		disease 0.300 None 1.000 11 0 1994 2017
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0015697
Disease: Arterial Fatty Streak
Arterial Fatty Streak 		phenotype 0.300 None 1.000 11 0 2007 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0264956
Disease: Atheroma
Atheroma 		phenotype 0.300 None 1.000 11 0 2007 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		disease 0.800 strong 0.960 11 1 1985 2017
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C2936350
Disease: Plaque, Atherosclerotic
Plaque, Atherosclerotic 		phenotype 0.300 None 1.000 11 0 2007 2018