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: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group 0.300 None 1.000 14 0 1988 2010
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage 		phenotype 0.300 None 1.000 14 0 1988 2010
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0751893
Disease: Posterior Fossa Hemorrhage
Posterior Fossa Hemorrhage 		phenotype 0.300 None 1.000 14 0 1988 2010
Entrez Id: 4879
Gene Symbol: NPPB
NPPB 		natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		disease 0.300 None 1.000 13 0 2000 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB 		natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease 0.300 None 1.000 13 0 2000 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB 		natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		disease 0.300 None 1.000 13 0 2000 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB 		natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		phenotype 0.300 None 1.000 13 0 2000 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease 0.300 None 1.000 13 0 1995 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		disease 0.300 None 1.000 13 0 1995 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		phenotype 0.300 None 1.000 12 0 2004 2010
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		gasdermin E 0.656 0.423 3.3E-09
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.300 definitive 1.000 12 0 1998 2016
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		gasdermin E 0.656 0.423 3.3E-09
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		disease 0.300 definitive 1.000 12 0 1998 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 definitive 1.000 12 0 1991 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 definitive 1.000 12 0 1991 2016