|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Then, the (ATTTC)<sub>n</sub> expanded in size, originating a deleterious allele in DAB1 that leads to SCA37.
|
30588707 |
2019 |
|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This study reveals the unstable ATTTC repeat mutation within the DAB1 gene as the underlying genetic cause and provides evidence of reelin-DAB1 signalling dysregulation in the spinocerebellar ataxia type 37.
|
29939198 |
2018 |
|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnosis of SCA37 is laborious because about 7% of the pentanucleotide repeat alleles in DAB1 are larger than 30 units and, thus, fail to amplify with standard PCR conditions, resulting in apparently homoallelism or in complete lack of PCR amplification in several cases.
|
29891931 |
2018 |
|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
This study reveals the unstable ATTTC repeat mutation within the DAB1 gene as the underlying genetic cause and provides evidence of reelin-DAB1 signalling dysregulation in the spinocerebellar ataxia type 37.
|
29939198 |
2018 |
|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
|
28686858 |
2017 |
|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
|
28686858 |
2017 |
|
SPINOCEREBELLAR ATAXIA 37
|
0.530 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Autistic Disorder
|
0.330 |
Biomarker
|
disease |
BEFREE |
The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population.
|
26285919 |
2016 |
|
Autistic Disorder
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
In the total 427 trios, we found significant genetic association between autism and four SNPs in DAB1 (rs12035887 G: p=0.0006; rs3738556 G: p=0.0044; rs1202773 A: p=0.0048; rs12740765 T: p=0.0196).
|
23333377 |
2013 |
|
Autistic Disorder
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor VLDLR mRNA demonstrate impairments in the Reelin signaling system in autism, accounting for some of the brain structural and cognitive deficits observed in the disorder.
|
15820235 |
2005 |
|
Autistic Disorder
|
0.330 |
Biomarker
|
disease |
CTD_human |
Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor VLDLR mRNA demonstrate impairments in the Reelin signaling system in autism, accounting for some of the brain structural and cognitive deficits observed in the disorder.
|
15820235 |
2005 |
|
Status Epilepticus
|
0.200 |
Biomarker
|
disease |
RGD |
Reelin regulates neuronal progenitor migration in intact and epileptic hippocampus.
|
17314278 |
2007 |
|
Ataxia
|
0.110 |
Biomarker
|
phenotype |
BEFREE |
To elucidate the influence of cerebellum atrophy and ataxia on the obtained results, the behavioral and neurophysiological findings in reeler mice were reproduced using the Disabled-1 (Dab1) cKO mice, in which the Reelin-Dab1 signal deficiency is confined to the cerebral cortex.
|
29536172 |
2018 |
|
Cerebellar atrophy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Although conventional Dab1 null mutant mice exhibit cerebellar atrophy and cerebellar ataxia, the Dab1 cKO mice had normal cerebellum and showed no motor dysfunction.
|
26762856 |
2017 |
|
Ataxia
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cerebellar atrophy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Duration of sleep
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.
|
30804565 |
2019 |
|
Duration of sleep
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.
|
30846698 |
2019 |
|
Cardiac troponin I measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Cardiac Troponin T and Troponin I in the General Population.
|
31014085 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
mathematical ability
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
|
Memory performance
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.
|
29274321 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |