Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. 27196381

2016
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE Autosomal recessive nonsense and frameshift mutations in TWIST2 have been found to cause SS in some but not all individuals. 25728400

2015
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE Four subtypes have been delineated, and mutations in the TWIST2 gene have been identified in type III focal facial dermal dysplasia (Setleis syndrome). 24486222

2014
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE A novel frameshift mutation in TWIST2 gene causing Setleis syndrome. 24127007

2014
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE Improper regulation of periostin by the mutant form of TWIST2 could help explain some of the soft tissue abnormalities seen in these patients therefore providing a genotype-phenotype relationship for Setleis Syndrome. 21801849

2011
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. 21931173

2011
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.770 GeneticVariation BEFREE Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. 20691403

2010