DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs1555471813 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

UniProt: the universal protein knowledgebase.

27899622

2017

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

27165009

2016

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

27342041

2016

dbSNP:

rs1555471813

CREBBP

0.700

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

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

26788536

2016

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

26956253

2016

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

27311832

2016

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

25599811

2015

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

25108505

2015

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

25388907

2015

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

18792986

2008

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

16783566

2006

dbSNP:

rs1555471813

CREBBP

0.700

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

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

15706485

2005

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

12070251

2002

dbSNP:

rs1555471813

CREBBP

0.700

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

dbSNP:

rs1555471813

CREBBP

0.700

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

dbSNP:

rs1555471813

CREBBP

0.700

CausalMutation

CLINVAR

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

13983033

1963