Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004296 | HP:0004296 | Abnormal gastrointestinal vascular morphology | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0004296 | HP:0004296 | Abnormal gastrointestinal vascular morphology | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0004296 | HP:0004296 | Abnormal gastrointestinal vascular morphology | 0 | GLMN CL E G H | 11146 | 14373 | ORPHA:83454 | Glomuvenous malformation | | | | 37 | | |
HP:0004296 | HP:0004296 | Abnormal gastrointestinal vascular morphology | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | | | | 533 | | |
HP:0004296 | HP:0000471 | Gastrointestinal angiodysplasia | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0004296 | HP:0002629 | Gastrointestinal arteriovenous malformation | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0004296 | HP:0002604 | Gastrointestinal telangiectasia | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0004296 | HP:0002604 | Gastrointestinal telangiectasia | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0004296 | HP:0000471 | Gastrointestinal angiodysplasia | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0004296 | HP:0002629 | Gastrointestinal arteriovenous malformation | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0004296 | HP:0002629 | Gastrointestinal arteriovenous malformation | 1 | GLMN CL E G H | 11146 | 14373 | ORPHA:83454 | Glomuvenous malformation | HP:0040284 - Very rare | | | 37 | | |
HP:0004296 | HP:0000471 | Gastrointestinal angiodysplasia | 1 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0004296 | HP:0031346 | Rectal arteriovenous malformation | 2 | CL E G H | | | | | | | | | | |
HP:0004296 | HP:0031345 | Colonic arteriovenous malformation | 2 | CL E G H | | | | | | | | | | |
HP:0004296 | HP:0031343 | Jejunal arteriovenous malformation | 2 | CL E G H | | | | | | | | | | |
HP:0004296 | HP:0031342 | Duodenal arteriovenous malformation | 2 | CL E G H | | | | | | | | | | |
HP:0004296 | HP:0031341 | Gastric arteriovenous malformation | 2 | CL E G H | | | | | | | | | | |