Search results for SMAD4

Gene symbol Genotype Mutation consequence Disease Panel
SMAD4 monoallelic loss of function JUVENILE POLYPOSIS SYNDROME
SMAD4 monoallelic activating MYHRE SYNDROME
SMAD4 monoallelic loss of function Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
SMAD4 monoallelic loss of function Hereditary haemorrhagic telangiectasia, juvenile polyposis syndrome