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: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
MITOCHONDRIAL DNA DEPLETION SYNDROME 11
disease 0.700 strong 1.000 1 3 2013 2017
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease 0.410 None 1.000 1 0 2013 2018
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype 0.400 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 None 1.000 1 0 2013 2018
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia
disease 0.320 None 1.000 1 0 2013 2018
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
Mitochondrial Respiratory Chain Deficiencies
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
Oxidative Phosphorylation Deficiencies
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
Electron Transport Chain Deficiencies, Mitochondrial
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0339693
Disease: Internal Ophthalmoplegia
Internal Ophthalmoplegia
phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0013911
Disease: Emaciation
Emaciation
phenotype 0.300 None 1.000 1 0 2013 2013