Gene table of CA8 : carbonic anhydrase 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CA8	OMIM link	Number of associated genes	genes
PS224050	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	VLDLR, WDR81, CA8, ATP8A2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Nitrogen metabolism	hsa00910	8.6

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
carbonate dehydratase activity	GO:0004089	7.1
transition metal ion binding	GO:0046914	2.48
carbon-oxygen lyase activity	GO:0016835	5.46
hydro-lyase activity	GO:0016836	5.81
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
metal ion binding	GO:0046872	1.41
lyase activity	GO:0016829	4.53
zinc ion binding	GO:0008270	2.66