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:0200008 | HP:0200008 | Intestinal polyposis | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 135 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040282 - Frequent | | | 3179 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 192 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | | | | 435 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 385 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 385 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 385 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 88 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 13 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 67 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 55 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 186 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 77 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 12 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:135150 | Birt-Hogg-Dube syndrome | | | | 332 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 59 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 9 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MUTYH CL E G H | 4595 | 7527 | OMIM:608456 | Familial adenomatous polyposis, 2 | | | | 592 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | | | | 592 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 4 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:175510 | Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | . | | | 337 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | | | | 731 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 731 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | | | | 1129 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 1129 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 948 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 572 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | RNF43 CL E G H | 54894 | 18505 | OMIM:617108 | Sessile serrated polyposis cancer syndrome | | | | 5 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 2 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 504 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 22 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0200008 | HP:0200008 | Intestinal polyposis | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0200008 | HP:0005238 | Discrete intestinal polyps | 1 | CL E G H | | | | | | | | | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | | | | 3179 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | | | | 435 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 385 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 385 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 385 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 385 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 186 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 186 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | FLCN CL E G H | 201163 | 27310 | OMIM:135150 | Birt-Hogg-Dube syndrome | | | | 332 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 9 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MUTYH CL E G H | 4595 | 7527 | OMIM:608456 | Familial adenomatous polyposis, 2 | | | | 592 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 592 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | | | | 731 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 731 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | | | | 1129 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 1129 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 948 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0200008 | HP:0032222 | Serrated intestinal polyps | 1 | RNF43 CL E G H | 54894 | 18505 | OMIM:617108 | Sessile serrated polyposis cancer syndrome | | | | 5 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0200008 | HP:0030256 | Small intestinal polyposis | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 504 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 504 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0200008 | HP:0030255 | Large intestinal polyposis | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 3179 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 3179 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040281 - Very frequent | | | 3179 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040281 - Very frequent | | | 3179 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040281 - Very frequent | | | 3179 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 435 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | AXIN2 CL E G H | 8313 | 904 | ORPHA:401911 | AXIN2-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 435 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0200008 | HP:0100896 | Rectal polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 385 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 385 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 385 | | |
HP:0200008 | HP:0012198 | Juvenile colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0200008 | HP:0012183 | Hyperplastic colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040281 - Very frequent | | | 385 | | |
HP:0200008 | HP:0100896 | Rectal polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040280 - Obligate | | | 385 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0200008 | HP:0012183 | Hyperplastic colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0200008 | HP:0012198 | Juvenile colonic polyposis | 2 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 186 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 186 | | |
HP:0200008 | HP:0100896 | Rectal polyposis | 2 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 186 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0200008 | HP:0012198 | Juvenile colonic polyposis | 2 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0200008 | HP:0100896 | Rectal polyposis | 2 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0200008 | HP:0012183 | Hyperplastic colonic polyposis | 2 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 5 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 5 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | MUTYH CL E G H | 4595 | 7527 | OMIM:608456 | Familial adenomatous polyposis, 2 | . | | | 592 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 592 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 592 | | |
HP:0200008 | HP:0100896 | Rectal polyposis | 2 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 592 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040281 - Very frequent | | | 2 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | . | | | 731 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 731 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 731 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | . | | | 1129 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 1129 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 1129 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040280 - Obligate | | | 948 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0200008 | HP:0004783 | Duodenal polyposis | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040284 - Very rare | | | 504 | | |
HP:0200008 | HP:0100896 | Rectal polyposis | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 504 | | |
HP:0200008 | HP:0005227 | Adenomatous colonic polyposis | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 504 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0200008 | HP:0200063 | Colorectal polyposis | 2 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |