Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. 1928091

1991