Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 19755431 2010
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. 20184424 2010
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776 2009
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776 2009
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 19483581 2009
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 Biomarker disease GENOMICS_ENGLAND Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease UNIPROT Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 17693524 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895 2006
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895 2006
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 14513358 2003
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 Biomarker disease CTD_human Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. 12221714 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Mutations in the human TWIST gene. 10649491 2000
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 9792856 1998
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997