DISEASES

Disease-gene associations mined from literature

Literature associating PMM2 and congenital disorder of glycosylation type II

PMM2 [ENSP00000268261]

Phosphomannomutase 2; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions.

Synonyms:  PMM2p,  hPMM2,  A0A0S2Z4J6,  H3BM92,  H3BNY9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM