Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 GeneticVariation disease BEFREE Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker disease GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature
0.400 Biomarker phenotype GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
0.400 Biomarker phenotype GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
CUI: C0349588
Disease: Short stature
Short stature
0.400 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C0005586
Disease: Bipolar Disorder
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
CUI: C0557874
Disease: Global developmental delay
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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease HPO
CUI: C0008810
Disease: Circadian Rhythms
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
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.100 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.100 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.100 GeneticVariation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.100 CausalMutation disease CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541 2013
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.100 CausalMutation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.100 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.100 GeneticVariation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
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
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.100 GeneticVariation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013