|
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
|
0.600 |
GeneticVariation
|
phenotype |
UNIPROT |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
|
Dwarfism
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
|
Intellectual Disability
|
0.310 |
GeneticVariation
|
group |
BEFREE |
By a combination of exome sequencing and homozygosity mapping, we analyzed two consanguineous families with intellectual disability and identified homozygous loss-of-function (LoF) variants in FBXL3.
|
30481285 |
2019 |
|
Global developmental delay
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
The phenotypic similarity and the segregation analysis suggest that FBXL3 biallelic, LoF variants link this gene with syndromic autosomal recessive developmental delay/intellectual disability.
|
30481285 |
2019 |
|
Circadian Rhythms
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person.
|
26835600 |
2016 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Poor school performance
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
|
22727047 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
|
20157158 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
|
18684116 |
2008 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
|
22532218 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
|
20052765 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
|
12134079 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
|
10953198 |
2000 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we describe an unexpected function for the circadian repressor CRY2 as a component of an FBXL3-containing E3 ligase that recruits T58-phosphorylated c-MYC for ubiquitylation. c-MYC is a critical regulator of cell proliferation; T58 is central in a phosphodegron long recognized as a hotspot for mutation in cancer.
|
27840026 |
2016 |
|
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The phenotypic similarity and the segregation analysis suggest that FBXL3 biallelic, LoF variants link this gene with syndromic autosomal recessive developmental delay/intellectual disability.
|
30481285 |
2019 |
|
Primary malignant neoplasm
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we describe an unexpected function for the circadian repressor CRY2 as a component of an FBXL3-containing E3 ligase that recruits T58-phosphorylated c-MYC for ubiquitylation. c-MYC is a critical regulator of cell proliferation; T58 is central in a phosphodegron long recognized as a hotspot for mutation in cancer.
|
27840026 |
2016 |
|
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
|
Dwarfism
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dwarfism
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
|
Short stature
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|