Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 435 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 385 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 385 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040283 - Occasional | | | 385 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 186 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 170 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 327 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1819 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2162 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 5 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2232 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | | | | 592 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 2 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 337 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1121 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | | | | 731 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 731 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | | | | 1129 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 1129 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 1 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 304 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 237 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 147 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 48 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 504 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 253 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0100743 | HP:0100743 | Neoplasm of the rectum | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 435 | | |
HP:0100743 | HP:0100896 | Rectal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 385 | | |
HP:0100743 | HP:0100896 | Rectal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0100743 | HP:0100896 | Rectal polyposis | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 186 | | |
HP:0100743 | HP:0100896 | Rectal polyposis | 1 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 5 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 592 | | |
HP:0100743 | HP:0100896 | Rectal polyposis | 1 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 592 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | . | | | 731 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 731 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | . | | | 1129 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 1129 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0100743 | HP:0100896 | Rectal polyposis | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 504 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0100743 | HP:0200063 | Colorectal polyposis | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |