rs1554441991, TWIST1

N. diseases: 2
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 Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 19755431 2010
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 19755431 2010
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
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895 2006
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895 2006
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 14513358 2003
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 14513358 2003
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
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
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997