|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
|
29534297 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
|
29534297 |
2018 |
|
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Recent whole exome sequencing studies identified <i>de novo</i> hotspot variants in <i>CYFIP2</i> from patients with early-onset epileptic encephalopathy and microcephaly, suggesting that CYFIP2 may have some functions in embryonic brain development.
|
30687000 |
2018 |
|
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
We identified three de novo CYFIP2 variants at the Arg87 residue in 4 unrelated individuals with early-onset epileptic encephalopathy.
|
29534297 |
2018 |
|
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy.
|
30664714 |
2019 |
|
Seizures
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.
|
30664714 |
2019 |
|
Severe intellectual disability
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.
|
30664714 |
2019 |
|
Intellectual Disability
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Using trio whole-exome or -genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia.
|
30664714 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Serum gamma-glutamyl transferase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Age at menarche
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
nervous system disorder
|
0.020 |
GeneticVariation
|
group |
BEFREE |
An obvious association of CYFIP2 variants with human neurological disorders has never been reported.
|
29534297 |
2018 |
|
Neurodevelopmental Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Here, we identified de novo hotspot CYFIP2 variants in neurodevelopmental disorders and explore the possible involvement of the CYFIP2 mutants in the WAVE signaling pathway.
|
29534297 |
2018 |
|
Malignant neoplasm of breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer.
|
23242139 |
2013 |
|
Chronic Obstructive Airway Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this paper the codon 31 polymorphism of the p53-inducible protein p21 was studied in 144 Swedish lung cancer patients and two different control groups: 95 patients with chronic obstructive pulmonary disease (COPD) and 761 healthy controls.
|
8807325 |
1996 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
|
30021865 |
2019 |
|
Breast Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer.
|
23242139 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel West syndrome candidate genes in a Chinese cohort.
|
29667327 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
|
30664714 |
2019 |
|
Epileptic encephalopathy
|
0.130 |
Biomarker
|
disease |
HPO |
|
|
|
|
Autistic Disorder
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Autistic Disorder
|
0.110 |
Biomarker
|
disease |
BEFREE |
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC).
|
30664714 |
2019 |
|
Seizures
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Intellectual Disability
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|