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: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 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: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 CausalMutation CLINVAR Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. 21932317

2011
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 CausalMutation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 CausalMutation CLINVAR Our study is based on the mutation analysis of CREBBP in 31 Italian RSTS patients using segregation analysis of intragenic microsatellites, BAC FISH and direct sequencing of PCR and RT-PCR fragments. 17052327

2006
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 CausalMutation CLINVAR Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. 16359492

2005
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.900 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: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 CausalMutation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.400 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.120 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 GeneticVariation CLINVAR

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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016