Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. 27831545

2017
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. 26809768

2016
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. 26721324

2016
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical utility gene card for: Mowat-Wilson syndrome. 21343952

2011
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia type A in childhood. 19764019

2009
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. 19842203

2009
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mowat-Wilson syndrome. 17958891

2007
dbSNP: rs1553961516
rs1553961516
ZEB2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of Mowat-Wilson syndrome. 16053902

2005