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:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | AKT1 CL E G H | 207 | 391 | OMIM:114500 | Colorectal cancer | . | | | 54 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | APC CL E G H | 324 | 583 | OMIM:114500 | Colorectal cancer | . | | | 3179 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | AURKA CL E G H | 6790 | 11393 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:114500 | Colorectal cancer | . | | | 435 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | BAX CL E G H | 581 | 959 | OMIM:114500 | Colorectal cancer | . | | | 4 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:114500 | Colorectal cancer | . | | | 276 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | BUB1 CL E G H | 699 | 1148 | OMIM:114500 | Colorectal cancer | . | | | 5 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:114500 | Colorectal cancer | . | | | 76 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114500 | Colorectal cancer | . | | | 833 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114500 | Colorectal cancer | . | | | 88 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | DCC CL E G H | 1630 | 2701 | OMIM:114500 | Colorectal cancer | . | | | 36 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | DLC1 CL E G H | 10395 | 2897 | OMIM:114500 | Colorectal cancer | . | | | 11 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:114500 | Colorectal cancer | . | | | 250 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | . | | | 170 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:114500 | Colorectal cancer | . | | | 145 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:114500 | Colorectal cancer | . | | | 332 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | MCC CL E G H | 4163 | 6935 | OMIM:114500 | Colorectal cancer | . | | | 6 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:114500 | Colorectal cancer | . | | | 131 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:614385 | Colorectal cancer, hereditary nonpolyposis, type 7 | . | | | 131 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | . | | | 2232 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:114500 | Colorectal cancer | . | | | 102 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114500 | Colorectal cancer | . | | | 2 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114500 | Colorectal cancer | . | | | 162 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | PLA2G2A CL E G H | 5320 | 9031 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:614337 | Colorectal cancer, hereditary nonpolyposis, type 4 | . | | | 1121 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | PTPN12 CL E G H | 5782 | 9645 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | PTPRJ CL E G H | 5795 | 9673 | OMIM:114500 | Colorectal cancer | . | | | 3 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | RAD54B CL E G H | 25788 | 17228 | OMIM:114500 | Colorectal cancer | . | | | 2 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | SRC CL E G H | 6714 | 11283 | OMIM:114500 | Colorectal cancer | . | | | 15 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:614331 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 | | | | 253 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | TLR2 CL E G H | 7097 | 11848 | OMIM:114500 | Colorectal cancer | . | | | 5 | | |
HP:0006716 | HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114500 | Colorectal cancer | . | | | 911 | | |