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:0005584 | HP:0005584 | Renal cell carcinoma | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 7 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | AKT1 CL E G H | 207 | 391 | OMIM:114500 | Colorectal cancer | . | | | 54 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | APC CL E G H | 324 | 583 | OMIM:114500 | Colorectal cancer | . | | | 3179 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | AURKA CL E G H | 6790 | 11393 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:114500 | Colorectal cancer | . | | | 435 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | . | | | 184 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | BAX CL E G H | 581 | 959 | OMIM:114500 | Colorectal cancer | . | | | 4 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:114500 | Colorectal cancer | . | | | 276 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | BUB1 CL E G H | 699 | 1148 | OMIM:114500 | Colorectal cancer | . | | | 5 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:114500 | Colorectal cancer | . | | | 76 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | | | | 169 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114500 | Colorectal cancer | . | | | 833 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114500 | Colorectal cancer | . | | | 88 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | DCC CL E G H | 1630 | 2701 | OMIM:114500 | Colorectal cancer | . | | | 36 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | DLC1 CL E G H | 10395 | 2897 | OMIM:114500 | Colorectal cancer | . | | | 11 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:114500 | Colorectal cancer | . | | | 250 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:114500 | Colorectal cancer | . | | | 145 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FH CL E G H | 2271 | 3700 | ORPHA:523 | Hereditary leiomyomatosis and renal cell cancer | | | | 301 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FH CL E G H | 2271 | 3700 | OMIM:150800 | Hereditary leiomyomatosis and renal cell cancer | . | | | 301 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 301 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | HP:0040283 - Occasional | | | 332 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:135150 | Birt-Hogg-Dube syndrome | | | | 332 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:114500 | Colorectal cancer | . | | | 332 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | 332 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 9 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 58 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | 161 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | 90 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 202 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | | | | 645 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 84 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | MCC CL E G H | 4163 | 6935 | OMIM:114500 | Colorectal cancer | . | | | 6 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 4 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | MET CL E G H | 4233 | 7029 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | 375 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 3 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:114500 | Colorectal cancer | . | | | 131 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 1952 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:114500 | Colorectal cancer | . | | | 102 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | OGG1 CL E G H | 4968 | 8125 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PBRM1 CL E G H | 55193 | 30064 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | 10 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114500 | Colorectal cancer | . | | | 2 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114500 | Colorectal cancer | . | | | 162 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PLA2G2A CL E G H | 5320 | 9031 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PRCC CL E G H | 5546 | 9343 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PTPN12 CL E G H | 5782 | 9645 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | PTPRJ CL E G H | 5795 | 9673 | OMIM:114500 | Colorectal cancer | . | | | 3 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | RAD54B CL E G H | 25788 | 17228 | OMIM:114500 | Colorectal cancer | . | | | 2 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | RNF139 CL E G H | 11236 | 17023 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 304 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 55 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 147 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | SRC CL E G H | 6714 | 11283 | OMIM:114500 | Colorectal cancer | . | | | 15 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:300854 | Renal cell carcinoma, xp11-associated | . | | | | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TLR2 CL E G H | 7097 | 11848 | OMIM:114500 | Colorectal cancer | . | | | 5 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 131 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114500 | Colorectal cancer | . | | | 911 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | VHL CL E G H | 7428 | 12687 | OMIM:144700 | Renal cell carcinoma, nonpapillary | . | | | 490 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 490 | | |
HP:0005584 | HP:0005584 | Renal cell carcinoma | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | FH CL E G H | 2271 | 3700 | ORPHA:523 | Hereditary leiomyomatosis and renal cell cancer | | | | 301 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 9 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 58 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | MET CL E G H | 4233 | 7029 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | 375 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 3 | | |
HP:0005584 | HP:0006770 | Clear cell renal cell carcinoma | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0005584 | HP:0006766 | Papillary renal cell carcinoma | 1 | PRCC CL E G H | 5546 | 9343 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | | | |
HP:0005584 | HP:0011797 | Papillary renal cell carcinoma type 1 | 2 | CL E G H | | | | | | | | | | |
HP:0005584 | HP:0006732 | Papillary renal cell carcinoma type 2 | 2 | FH CL E G H | 2271 | 3700 | ORPHA:523 | Hereditary leiomyomatosis and renal cell cancer | HP:0040283 - Occasional | | | 301 | | |