CA5A, carbonic anhydrase 5A, 763

N. diseases: 42; N. variants: 6
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777316
rs587777316
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C3810404
Disease:
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		G 0.800 CausalMutation CLINVAR Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
dbSNP: rs587777316
rs587777316
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C3810404
Disease:
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.800 GeneticVariation UNIPROT Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014