Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2773 | 952 | 601593 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2555 | 952 | 601593 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 12207 | 1100 | 113705 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 12586 | 1100 | 113705 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 14742 | 1101 | 600185 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 13912 | 1101 | 600185 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 3464 | 20473 | 605882 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 3778 | 20473 | 605882 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | CHEK2 CL E G H | 11200 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2851 | 16627 | 604373 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | CHEK2 CL E G H | 11200 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2594 | 16627 | 604373 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | MRE11 CL E G H | 4361 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 1258 | 7230 | 600814 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | MRE11 CL E G H | 4361 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 1259 | 7230 | 600814 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | NBN CL E G H | 4683 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2640 | 7652 | 602667 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | NBN CL E G H | 4683 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2402 | 7652 | 602667 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | PALB2 CL E G H | 79728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 3925 | 26144 | 610355 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | PALB2 CL E G H | 79728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 4245 | 26144 | 610355 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | PTEN CL E G H | 5728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2416 | 9588 | 601728 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | PTEN CL E G H | 5728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2246 | 9588 | 601728 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD50 CL E G H | 10111 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2611 | 9816 | 604040 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD50 CL E G H | 10111 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2928 | 9816 | 604040 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51 CL E G H | 5888 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 81 | 9817 | 179617 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51 CL E G H | 5888 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 72 | 9817 | 179617 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51C CL E G H | 5889 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 1310 | 9820 | 602774 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51C CL E G H | 5889 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 1422 | 9820 | 602774 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51D CL E G H | 5892 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 1216 | 9823 | 602954 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | RAD51D CL E G H | 5892 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 1132 | 9823 | 602954 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | TP53 CL E G H | 7157 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2280 | 11998 | 191170 |
HP:0030406 | HP:0030406 | Primary peritoneal carcinoma | 0 | TP53 CL E G H | 7157 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 1 | | 2464 | 11998 | 191170 |
HPO disease - gene - phenotype less frequent non-typical associations: |