Disease-gene associations mined from literature

Literature associating CMAS and rigid spine muscular dystrophy 1

CMAS [ENSP00000229329]

Cytidine monophosphate N-acetylneuraminic acid synthetase; Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).

Synonyms:  F5GYM0,  F5H296,  Q8NFW8,  F5GYM0p,  hF5GYM0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM