RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 GeneticVariation disease BEFREE Biallelic variants in RTTN cause primary microcephaly in infants. 29967526 2018
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 GeneticVariation disease BEFREE RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. 29356416 2018
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 GeneticVariation disease 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
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 GeneticVariation disease BEFREE Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. 26940245 2016
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 GeneticVariation disease BEFREE RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 26608784 2015
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 Biomarker disease GENOMICS_ENGLAND RTTN mutations link primary cilia function to organization of the human cerebral cortex. 22939636 2012