rs775277800, RTTN

N. diseases: 4
Disease: Primary microcephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
0.010 GeneticVariation BEFREE These findings reveal that RTTN contributes to building full-length centrioles and illuminate the molecular mechanism through which the RTTN (A578P) mutation causes primary microcephaly.Mutations in many centriolar protein-encoding genes cause primary microcephaly. 28811500 2017