SIFRIM-HITZ-WEISS SYNDROME
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
|
27616479 |
2016 |
SIFRIM-HITZ-WEISS SYNDROME
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
|
27479907 |
2016 |
SIFRIM-HITZ-WEISS SYNDROME
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
SIFRIM-HITZ-WEISS SYNDROME
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SIFRIM-HITZ-WEISS SYNDROME
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SIFRIM-HITZ-WEISS SYNDROME
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Endometrial Carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Here, we characterise the effects of CHD4 mutations identified in endometrial carcinoma on the remodelling properties of dMi-2, the highly conserved Drosophila homologue of CHD4.
|
29844320 |
2018 |
Endometrial Carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
CHD4 mutations promote endometrial cancer stemness by activating TGF-beta signaling.
|
29888111 |
2018 |
Endometrial Carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.
|
27997699 |
2017 |
Endometrial Carcinoma
|
0.330 |
Biomarker
|
disease |
CTD_human |
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
|
23104009 |
2012 |
Autistic Disorder
|
0.300 |
Biomarker
|
disease |
CTD_human |
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
|
30559488 |
2019 |
Developmental Disabilities
|
0.300 |
Biomarker
|
group |
CTD_human |
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
|
30559488 |
2019 |
Child Development Deviations
|
0.300 |
Biomarker
|
disease |
CTD_human |
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
|
30559488 |
2019 |
Child Development Disorders, Specific
|
0.300 |
Biomarker
|
disease |
CTD_human |
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
|
30559488 |
2019 |
Endometrial Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
|
23104009 |
2012 |
Schizophrenia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Increased exonic de novo mutation rate in individuals with schizophrenia.
|
21743468 |
2011 |
Intellectual Disability
|
0.120 |
Biomarker
|
group |
BEFREE |
We explore the field through the lens of Chd3, Chd4, and Chd5 proteins, which incorporate into the nucleosome remodeling and deacetylase (NuRD) complex, and the related proteins Chd7 and Chd8, implicated in the pathogenesis of intellectual disability and autism spectrum disorders.
|
31146125 |
2019 |
Intellectual Disability
|
0.120 |
GeneticVariation
|
group |
BEFREE |
In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects.
|
31737996 |
2019 |
Intellectual Disability
|
0.120 |
Biomarker
|
group |
HPO |
|
|
|
Macrocephaly
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects.
|
31737996 |
2019 |
Macrocephaly
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |