|
Abnormal behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
FBXL3 is part of the SCF (Skp1-Cullin-F box protein) ubiquitin ligase complex that binds and leads to phosphorylation-dependent degradation of the central clock protein cryptochromes (CRY1 and CRY2) by the proteasome and its absence causes circadian phenotypes in mice and behavioral problems.
|
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 |
|
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Byzanthine arch palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
CausalMutation
|
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 |
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 |
|
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 |
CausalMutation
|
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 |
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 |
CausalMutation
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
|
10953198 |
2000 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
|
23160995 |
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 |
|
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 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Together, our data indicate an oncogenic role of miR-181d in CRC by promoting glycolysis, and miR-181d/CRY2/FBXL3/c-myc feedback loop might be a therapeutic target for patients with CRC.
|
28749470 |
2017 |