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:0012114 | HP:0012114 | Endometrial carcinoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 385 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 1003 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 131 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 5 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | . | | | 2232 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 2232 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 2 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:614337 | Colorectal cancer, hereditary nonpolyposis, type 4 | . | | | 1121 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | . | | | 731 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 731 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040282 - Frequent | | | 1129 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0012114 | HP:0012114 | Endometrial carcinoma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |