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:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 385 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 9 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | | | | 592 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 731 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 1129 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0040275 | HP:0040275 | Adenocarcinoma of the large intestine | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0040275 | HP:0030439 | Anal canal adenocarcinoma | 1 | CL E G H | | | | | | | | | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 7 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040283 - Occasional | | | 385 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 592 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 731 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 1129 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0040275 | HP:0040276 | Adenocarcinoma of the colon | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |