CHOPS SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.
|
25730767 |
2015 |
CHOPS SYNDROME
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.
|
25730767 |
2015 |
CHOPS SYNDROME
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.
|
25730767 |
2015 |
CHOPS SYNDROME
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.
|
25730767 |
2015 |
CHOPS SYNDROME
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
CHOPS SYNDROME
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Obesity
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).
|
25730767 |
2015 |
Obesity
|
0.410 |
Biomarker
|
disease |
CTD_human |
Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).
|
25730767 |
2015 |
Obesity
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Heart Defects
|
0.310 |
GeneticVariation
|
group |
BEFREE |
Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).
|
25730767 |
2015 |
Congenital Heart Defects
|
0.310 |
Biomarker
|
group |
CTD_human |
Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).
|
25730767 |
2015 |
Multiple congenital anomalies
|
0.300 |
Biomarker
|
group |
CTD_human |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
|
25730767 |
2015 |
Bone Diseases, Developmental
|
0.300 |
Biomarker
|
group |
CTD_human |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
|
25730767 |
2015 |
Cognition Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
|
25730767 |
2015 |
Growth Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
|
25730767 |
2015 |
Lung diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
|
25730767 |
2015 |
Facies
|
0.300 |
Biomarker
|
group |
CTD_human |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
|
25730767 |
2015 |
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
|
31152163 |
2019 |
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Patent ductus arteriosus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Exophthalmos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Gastroesophageal reflux disease
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Heart Septal Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|