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:0007302 | HP:0007302 | Bipolar affective disorder | 0 | ATP2A2 CL E G H | 488 | 124200 | Keratosis follicularis | 124200 | C0022595 | OMIM | 1 | | 234 | 812 | 108740 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | CLCN4 CL E G H | 1183 | 300114 | Mental retardation 49, X-linked | 300114 | C3887959 | OMIM | 1 | | 686 | 2022 | 302910 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | TBX1 CL E G H | 6899 | 188400 | DiGeorge sequence | 188400 | C0012236 | OMIM | 1 | | 1169 | 11592 | 602054 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | CHRNA7 CL E G H | 1139 | 199318 | | | | ORPHA | 0 | | 384 | 1960 | 118511 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 0 | | 223 | 3749 | 193067 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | RPS6KA3 CL E G H | 6197 | 276630 | | | | ORPHA | 0 | | 515 | 10432 | 300075 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0007302 | HP:0007302 | Bipolar affective disorder | 0 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 0 | | 158 | 12631 | 603158 |