Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism
0.010 GeneticVariation group BEFREE This mini review will provide a summary of the biochemical pathways, in which choline is involved and their respective inborn errors of metabolism (caused by mutations in SLC5A7, CHAT, SLC44A1, CHKB, PCYT1A, CEPT1, CAD; DHODH, UMPS, FMO3, DMGDH, and GNMT). 30681159 2019