rs1554442016
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
SWEENEY-COX SYNDROME
0.800
GeneticVariation
UNIPROT
Here, we describe a new clinical entity, Sweeney-Cox syndrome , associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations.
28369379
2017
rs121909190
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
0.800
GeneticVariation
UNIPROT
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
17343269
2007
rs121909191
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
0.800
GeneticVariation
UNIPROT
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
17343269
2007
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
rs121909190
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
T
0.800
CausalMutation
CLINVAR
rs121909191
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
A
0.800
CausalMutation
CLINVAR
rs1554442016
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
SWEENEY-COX SYNDROME
C
0.800
CausalMutation
CLINVAR
rs1554442016
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
SWEENEY-COX SYNDROME
A
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
rs2717329
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Vital capacity
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs10225279
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Alopecia
T
0.700
GeneticVariation
GWASCAT
Genetic prediction of male pattern baldness.
28196072
2017
rs73071393
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Alopecia
G
0.700
GeneticVariation
GWASCAT
Genetic prediction of male pattern baldness.
28196072
2017
rs1554441995
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis, Type 1
G
0.700
GeneticVariation
CLINVAR
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
25271085
2015