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 |
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 |
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Dwarfism
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
Dwarfism
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
Dwarfism
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Short stature
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
Short Stature, CTCAE
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
|
30481285 |
2019 |
Short stature
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual Disability
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
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 |
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 |
Bipolar Disorder
|
0.300 |
Biomarker
|
disease |
PSYGENET |
An analysis of three separate human data sets revealed a gene wide association between variation in FBXL3 and bipolar disorder (P = 0.009).
|
22719873 |
2012 |
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 |
Global developmental delay
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
CausalMutation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
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 |
CausalMutation
|
disease |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |