CA5A, carbonic anhydrase 5A, 763

N. diseases: 42; N. variants: 6
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
dbSNP: rs149322277
rs149322277
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C4022792
Disease:
Reduced ejection fraction 		0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs149322277
rs149322277
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C0018810
Disease:
heart rate 		0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs149322277
rs149322277
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C0018801
Disease:
Heart failure 		0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs8056952
rs8056952
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C0200641
Disease:
Blood basophil count (lab test) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs147623570
rs147623570
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C3810404
Disease:
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		T 0.700 CausalMutation CLINVAR Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. 24530203 2014
dbSNP: rs563971993
rs563971993
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C3810404
Disease:
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		T 0.700 CausalMutation CLINVAR
dbSNP: rs767402215
rs767402215
Entrez Id: 763
Gene Symbol: CA5A
CA5A
CUI: C3810404
Disease:
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		A 0.700 CausalMutation CLINVAR