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:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 790 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 5769 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 7642 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 1086 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 833 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 532 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 1349 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 789 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 391 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 911 | | |