CA5A, carbonic anhydrase 5A, 763

N. diseases: 42; N. variants: 6
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
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.200 Biomarker disease CTD_mouse Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
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
CUI: C0018801
Disease: Heart failure
Heart failure 		0.100 GeneticVariation disease GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.100 GeneticVariation phenotype GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002064
Disease: Alkalosis, Respiratory
Alkalosis, Respiratory 		0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0022638
Disease: Ketosis
Ketosis 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0162275
Disease: Ketonuria
Ketonuria 		0.100 Biomarker disease HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO