Source: ALL
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: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.100 None 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 0
CUI: C3554608
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 		disease Disease or Syndrome 1 1 0.600 moderate 1.000 1 1 2013 2013