|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
|
27311832 |
2016 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
|
25388907 |
2015 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.
|
24616510 |
2014 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Inheritance and variable expression in Rubinstein-Taybi syndrome.
|
20684013 |
2010 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
|
18792986 |
2008 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
|
18792986 |
2008 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
|
15706485 |
2005 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
|
12566391 |
2003 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4.
|
12930888 |
2003 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
|
12566391 |
2003 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
|
12070251 |
2002 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
|
12114483 |
2002 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
|
11331617 |
2001 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
|
11331617 |
2001 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome.
|
9294190 |
1997 |
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|