MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
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 |
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Biallelic variants in RTTN cause primary microcephaly in infants.
|
29967526 |
2018 |
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 |
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
|
26608784 |
2015 |
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 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
|
29883675 |
2018 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Biallelic deleterious variants in RTTN, which encodes rotatin, are associated with primary microcephaly, polymicrogyria, seizures, intellectual disability, and primordial dwarfism in human infants.
|
29967526 |
2018 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
|
26608784 |
2015 |
Dwarfism
|
0.150 |
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 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations.
|
30121372 |
2018 |
Polymicrogyria
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in RTTN gene have been described in bilateral diffuse isolated polymicrogyria and, more recently, in microcephalic primordial dwarfism (PD).
|
26940245 |
2016 |
Polymicrogyria
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations.
|
30121372 |
2018 |
Polymicrogyria
|
0.140 |
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 |
Microcephaly
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
|
29883675 |
2018 |
Microcephaly
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
|
30121372 |
2018 |
Microcephaly
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
|
29967526 |
2018 |
Seizures
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
|
29967526 |
2018 |
Seizures
|
0.120 |
GeneticVariation
|
phenotype |
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 |
Platelet mean volume determination (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Congenital microcephaly
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Platelet Component Distribution Width Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals.
|
22939636 |
2012 |
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations.
|
30121372 |
2018 |