Source: UNIPROT ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 21 0.730 moderate 0.917 3 2 1992 2017
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
disease Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2000 2017
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.700 None 1.000 0 1 2000 2017
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2010 2016