rs104894057
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Another TWIST on Baller-Gerold syndrome.
11754069
2001
rs104894059
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Another TWIST on Baller-Gerold syndrome.
11754069
2001
rs121909189
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Another TWIST on Baller-Gerold syndrome.
11754069
2001
rs104894057
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
8988167
1997
rs104894057
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
8988166
1997
rs104894059
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
8988166
1997
rs104894059
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
8988167
1997
rs121909189
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
8988166
1997
rs121909189
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.800
GeneticVariation
UNIPROT
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
8988167
1997
rs104894057
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
G
0.800
CausalMutation
CLINVAR
rs104894059
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
C
0.800
CausalMutation
CLINVAR
rs121909189
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
G
0.800
CausalMutation
CLINVAR
rs104894054
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
0.710
GeneticVariation
BEFREE
We previously showed that Twist haploinsufficiency caused by a Y103X nonsense mutation in SCS alters both proliferation and osteoblast gene expression in human calvarial osteoblasts, indicating that Twist is an important regulator of osteoblast differentiation.
11854168
2002
rs104894054
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
T
0.710
CausalMutation
CLINVAR
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
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
rs121909188
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
A
0.700
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554441993
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
TG
0.700
GeneticVariation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
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
rs1554442082
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
C
0.700
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs1554442019
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
C
0.700
GeneticVariation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
rs121909188
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
A
0.700
CausalMutation
CLINVAR
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
20643727
2010
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
20643727
2010
rs1554441991
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
GGGCAGCGTGGGGATGATCTTC
0.700
CausalMutation
CLINVAR
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
19755431
2010
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
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
rs121909188
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Saethre-Chotzen Syndrome
A
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