×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Abnormal location of the eyebrow
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Multiple congenital anomalies
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
Muscle hypotonia
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
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
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
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
Muscle hypotonia
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
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
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
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
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
Muscle hypotonia
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
Muscle hypotonia
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
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
12070251
2002
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
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
Dysmorphic features
0.100
GeneticVariation
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
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
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
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
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
Muscle hypotonia
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
Muscle hypotonia
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
Dysmorphic features
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
15706485
2005