rs775277800, RTTN

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
0.700 CausalMutation CLINVAR
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
0.700 GeneticVariation CLINVAR
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
Microcephaly
CUI: C0025958
Disease: Microcephaly
0.010 GeneticVariation BEFREE Interestingly, the naturally occurring microcephaly-associated mutant, RTTN (A578P), shows a low affinity for STIL binding and blocks centriole assembly. 28811500 2017