CA2, carbonic anhydrase 2, 760

N. diseases: 210; N. variants: 12
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203933
rs118203933
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.810 GeneticVariation BEFREE Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome. 8444854 1993
dbSNP: rs118203933
rs118203933
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.810 GeneticVariation UNIPROT
dbSNP: rs118203933
rs118203933
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		T 0.810 CausalMutation CLINVAR
dbSNP: rs779869368
rs779869368
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		T 0.700 GeneticVariation CLINVAR Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 8128957 1994
dbSNP: rs573750741
rs573750741
Entrez Id: 760;100996348
Gene Symbol: CA2;CA3-AS1
CA2;CA3-AS1
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		A 0.700 CausalMutation CLINVAR A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. 1301935 1992
dbSNP: rs118203934
rs118203934
Entrez Id: 760;100996348
Gene Symbol: CA2;CA3-AS1
CA2;CA3-AS1
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1304160279
rs1304160279
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554709677
rs1554709677
Entrez Id: 760;100996348
Gene Symbol: CA2;CA3-AS1
CA2;CA3-AS1
CUI: C0345407
Disease:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		A 0.700 CausalMutation CLINVAR