|
rs387906727
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
|
25316788 |
2014 |
|
rs387906727
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
|
21567917 |
2011 |
|
rs387906727
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
|
16940977 |
2006 |
|
rs1131692040
|
RPL10;SNORA70
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131692040
|
RPL10;SNORA70
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1131692041
|
RPL10;SNORA70
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131692041
|
RPL10;SNORA70
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs387906727
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs782521991
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
|
25316788 |
2014 |
|
rs782521991
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
|
21567917 |
2011 |
|
rs782521991
|
DNASE1L1;RPL10;SNORA70
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
|
16940977 |
2006 |
|
rs1131692042
|
RPL10;SNORA70
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs915942
|
RPL10;SNORA70
|
Malaria
|
|
0.020 |
GeneticVariation |
BEFREE |
Both the severity of disease in uncomplicated malaria infections and parasitaemia were significantly lower in males infected with Plasmodium falciparum carrying the ancestral allele of rs915942 compared to those carrying the mutant allele.
|
25885177 |
2015 |
|
rs915942
|
RPL10;SNORA70
|
Malaria
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs915942 polymorphism was found to be associated with asymptomatic malaria in Dogon females, and the rs61042368 polymorphism was associated with clinical malaria in Fulani males.
|
25015414 |
2014 |
|
rs1131692040
|
RPL10;SNORA70
|
Seizures
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features.
|
29066376 |
2018 |
|
rs1131692040
|
RPL10;SNORA70
|
Microcephaly
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features.
|
29066376 |
2018 |
|
rs1131692042
|
RPL10;SNORA70
|
Mucopolysaccharidosis IV
|
|
0.010 |
GeneticVariation |
BEFREE |
Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia (SED).
|
26290468 |
2015 |
|
rs1131692042
|
RPL10;SNORA70
|
Intellectual Disability
|
|
0.010 |
GeneticVariation |
BEFREE |
Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia (SED).
|
26290468 |
2015 |
|
rs1131692040
|
RPL10;SNORA70
|
Autism Spectrum Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Using an X-linked intellectual disability (XLID) next-generation sequencing diagnostic panel, we identified a novel missense mutation in the gene encoding 60S ribosomal protein L10 (RPL10), a locus associated previously with autism spectrum disorders (ASD); the p.K78E change segregated with disease under an X-linked recessive paradigm while, consistent with causality, carrier females exhibited skewed X inactivation.
|
25316788 |
2014 |
|
rs915942
|
RPL10;SNORA70
|
Clinical malaria
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs915942 polymorphism was found to be associated with asymptomatic malaria in Dogon females, and the rs61042368 polymorphism was associated with clinical malaria in Fulani males.
|
25015414 |
2014 |
|
rs782521991
|
DNASE1L1;RPL10;SNORA70
|
Autism Spectrum Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD.
|
19166581 |
2009 |