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:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 385 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 2 | | |
HP:0006771 | HP:0006771 | Duodenal adenocarcinoma | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |