CA5A, carbonic anhydrase 5A, 763

N. diseases: 42; N. variants: 6
Disease: Hyperammonemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker phenotype BEFREE CA-VA deficiency should therefore be added to urea cycle defects, organic acidurias, and pyruvate carboxylase deficiency as a treatable condition in the differential diagnosis of hyperammonemia in the neonate and young child. 24530203 2014
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker phenotype HPO