Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. 26686679

2016

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. 26721324

2016

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Mowat-Wilson syndrome (MOWS) is caused by de novo heterozygous mutation at ZEB2 (SIP1, ZFHX1B) gene, and exhibit moderate to severe intellectual disability (ID), a characteristic facial appearance, epilepsy and other congenital anomalies. 26319231

2015

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Finally, these findings broaden the clinical spectrum of ZEB2 mutations, indicating that MWS ought to be considered in patients with lesser degrees of ID and a suggestive facial gestalt, even in the absence of congenital malformation. 23466526

2013

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Using stringent criteria, we identified CNVs at three loci (MAPK10, ZFHX1B, SOX2) that are novel, involve regulatory and coding sequences of neuro-developmental genes, and show association with HSCR in combination with other congenital anomalies. 21712996

2011

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation. 18259761

2008

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. 18445050

2008

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects. 16053902

2005

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Among this broad spectrum of malformations recently associated with haploinsufficiency of the zinc finger homeobox 1B gene (ZFHX1B), ACC can therefore be the only feature to be detected prenatally. 15065106

2004

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Thus, as well as causing neural defects, ZFHX1B mutations may also cause other malformations. 15006694

2004

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE Mutations of ZFHX1B are frequently associated with other congenital anomalies, including congenital heart disease, hypospadias, renal tract anomalies, and agenesis of the corpus callosum (ACC). 12784289

2003

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE These results allow further delineation of the spectrum of malformations ascribed to SMADIP1 haploinsufficiency, which includes frequent features such as hypospadias and agenesis of the corpus callosum. 11595972

2001