Source: INFERRED

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: C0023418
Disease: leukemia
leukemia 		0.200 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 Biomarker HPO

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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker HPO

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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.110 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker HPO

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: C0039075
Disease: Syndactyly
Syndactyly 		0.110 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.110 Biomarker HPO