| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | disease | CLINVAR | CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. | 26788536 | 2016 | ||||
|
0.100 | CausalMutation | disease | 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 | ||||
|
0.100 | GeneticVariation | disease | 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 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. | 27342041 | 2016 | ||||
|
0.100 | CausalMutation | disease | 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 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. | 25388907 | 2015 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Genotype-phenotype correlations in Rubinstein-Taybi syndrome. | 18792986 | 2008 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | UniProt: the universal protein knowledgebase. | 27899622 | 2017 | ||||
|
0.100 | GeneticVariation | disease | 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 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. | 26956253 | 2016 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. | 27342041 | 2016 |