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: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		0.100 GeneticVariation 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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.100 GeneticVariation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811

2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: 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 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811

2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485

2005