CA5A, carbonic anhydrase 5A, 763

N. diseases: 42; N. variants: 6
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease CLINGEN Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. 26913920 2016
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 GermlineCausalMutation disease ORPHANET Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 CausalMutation disease CLINVAR Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease CLINGEN Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 GeneticVariation disease UNIPROT Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease CLINGEN Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism. 23589845 2013
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease CLINGEN Human carbonic anhydrases and carbonic anhydrase deficiencies. 7574487 1995
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 Biomarker disease CTD_human