rs587777042, CYC1

N. diseases: 3
Disease: Ketosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ketosis
CUI: C0022638
Disease: Ketosis
0.010 GeneticVariation BEFREE Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. 23910460 2013