Disease-gene associations mined from literature

Literature associating ABO and familial hypertrophic cardiomyopathy

ABO [ENSP00000483018]

Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity.

Synonyms:  ABO,  A8E058,  E1Y3Y7,  H6UK82,  I1VEE1 ...

Linkouts:  STRING  Pharos  UniProt