Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. 27342041

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. 27165009

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. 26788536

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 27311832

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811

2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. 12070251

2002
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963