RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Disease: Primary microcephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775277800
rs775277800
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
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