Disease Term Disease ID Gene Symbol Classification References Source
Mowat-Wilson syndrome C1856113 ZEB2 Causal Pathogenic evidence from ClinVar 2030158, 9719364, 11448942, 11592033, 12451214, 15006694, 15384097, 16053902, 16688751, 17103451, 17203459, 17478475, 18076118, 19006215, 21712996, 22594450, 26319231 ClinVar
Mowat-Wilson syndrome due to a ZEB2 point mutation 261552 ZEB2 Causal Pathogenic evidence from ClinVar - ClinVar
Mowat-Wilson syndrome due to monosomy 2q22 261537 ZEB2 Causal Pathogenic evidence from ClinVar - ClinVar