hereditary hemorrhagic telangiectasia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (Human Disease Ontology, DOID_1270)
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Genes

3 genes involed in the disease hereditary hemorrhagic telangiectasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ENG endoglin
SMAD4 SMAD family member 4