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:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 3179 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040281 - Very frequent | | | 3179 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040281 - Very frequent | | | 3179 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040281 - Very frequent | | | 3179 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 435 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 385 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040280 - Obligate | | | 385 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 186 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 5 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | MUTYH CL E G H | 4595 | 7527 | OMIM:608456 | Familial adenomatous polyposis, 2 | . | | | 592 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 592 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 2 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 731 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 1129 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040280 - Obligate | | | 948 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0005227 | HP:0005227 | Adenomatous colonic polyposis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 504 | | |