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:0030256 | HP:0030256 | Small intestinal polyposis | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 385 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 186 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0030256 | HP:0030256 | Small intestinal polyposis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 504 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 3179 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 385 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 186 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0030256 | HP:0004783 | Duodenal polyposis | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 504 | | |