Disease Term Disease ID Gene Symbol Classification References Source
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2241 ACTG2 Causal Pathogenic evidence from ClinVar - ClinVar
LMOD1 Causal Pathogenic evidence from ClinVar - ClinVar
MYH11 Causal Pathogenic evidence from ClinVar - ClinVar
MYLK Causal Pathogenic evidence from ClinVar - ClinVar