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- source_evidence_literature type ECO_0000212 NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_assertion description "[Mutations in endoglin and activin receptor-like kinase 1 (ALK1), an endothelial specific TGF-beta type I receptor, have been linked to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_assertion evidence source_evidence_literature NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_assertion SIO_000772 18283546 NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_assertion wasDerivedFrom befree-2016 NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_assertion wasGeneratedBy ECO_0000203 NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.
- befree-2016 importedOn "2016-02-19" NP656150.RAwBNy8s3w8y62KAd4-ed7wKAjgo23BbnLM3FbO6_cMK0130_provenance.