Disease: Saethre-Chotzen Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. 20184424 2010
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 19483581 2009
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776 2009
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895 2006
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 9792856 1998