rs121909188, TWIST1

N. diseases: 2
Disease: Craniosynostosis, Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776 2009
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Mutations in the human TWIST gene. 10649491 2000
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997