CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907 2015
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. 24616510 2014
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Inheritance and variable expression in Rubinstein-Taybi syndrome. 20684013 2010
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 12114483 2002
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.800 GeneticVariation UNIPROT Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 11331617 2001
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
C 0.800 CausalMutation CLINVAR
dbSNP: rs28937315
rs28937315
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
C 0.800 GeneticVariation CLINVAR
dbSNP: rs1057520191
rs1057520191
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907 2015
dbSNP: rs1555473499
rs1555473499
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907 2015
dbSNP: rs746728741
rs746728741
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907 2015
dbSNP: rs1057520191
rs1057520191
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. 24616510 2014
dbSNP: rs1555473499
rs1555473499
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. 24616510 2014
dbSNP: rs746728741
rs746728741
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. 24616510 2014
dbSNP: rs1057520191
rs1057520191
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Inheritance and variable expression in Rubinstein-Taybi syndrome. 20684013 2010
dbSNP: rs1555473499
rs1555473499
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Inheritance and variable expression in Rubinstein-Taybi syndrome. 20684013 2010
dbSNP: rs746728741
rs746728741
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Inheritance and variable expression in Rubinstein-Taybi syndrome. 20684013 2010
dbSNP: rs1057520191
rs1057520191
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005
dbSNP: rs1555473499
rs1555473499
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005
dbSNP: rs746728741
rs746728741
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005
dbSNP: rs1057520191
rs1057520191
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
dbSNP: rs1555473499
rs1555473499
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
dbSNP: rs746728741
rs746728741
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
dbSNP: rs1057520191
rs1057520191
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C4551859
Disease:
RUBINSTEIN-TAYBI SYNDROME 1
0.700 GeneticVariation UNIPROT Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 12114483 2002