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:0010615 | HP:0010615 | Angiofibromas | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 102 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 113 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 196 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:841 | Sebocystomatosis | | | | 23 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 462 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | | | | 1819 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | | | | 2162 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | | | | 2232 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 102 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | | | | 5 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0010615 | HP:0010615 | Angiofibromas | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:841 | Sebocystomatosis | HP:0040281 - Very frequent | | | 23 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | HP:0040281 - Very frequent | | | 1819 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | HP:0040281 - Very frequent | | | 2162 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | HP:0040281 - Very frequent | | | 2232 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | HP:0040281 - Very frequent | | | 5 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0010615 | HP:0009720 | Adenoma sebaceum | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |