Gene: CREBBP ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033 1963
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033 1963
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. 10699051 2000
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. 10699051 2000
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR 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 		0.100 GeneticVariation disease CLINVAR Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. 12070251 2002
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. 12070251 2002
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR 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 		0.100 GeneticVariation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. 16021471 2005
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. 16021471 2005
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 16783566 2006
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 16783566 2006
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986 2008
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986 2008
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR 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 		0.100 GeneticVariation disease CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. 25108505 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. 25108505 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. 26603346 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. 26603346 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation disease CLINVAR Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. 27165009 2016