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:0011499 | HP:0011499 | Mydriasis | 0 | ACTA2 CL E G H | 59 | 613834 | Multisystemic smooth muscle dysfunction syndrome | 613834 | C3151201 | OMIM | 1 | | 362 | 130 | 102620 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | ACTA2 CL E G H | 59 | 613834 | Multisystemic smooth muscle dysfunction syndrome | 613834 | C3151201 | OMIM | 1 | | 387 | 130 | 102620 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | ACTA2 CL E G H | 59 | 613834 | Multisystemic smooth muscle dysfunction syndrome | 613834 | C3151201 | OMIM | 1 | | 387 | 130 | 102620 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | ACTA2 CL E G H | 59 | 613834 | Multisystemic smooth muscle dysfunction syndrome | 613834 | C3151201 | OMIM | 1 | | 362 | 130 | 102620 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011499 | HP:0011499 | Mydriasis | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 1514 | 950 | 603089 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 1683 | 950 | 603089 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 65 | 18274 | 605666 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 67 | 18274 | 605666 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 129 | 4379 | 139313 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 150 | 4379 | 139313 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 74 | 4390 | 600998 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 75 | 4390 | 600998 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 0 | | 578 | 8851 | 602859 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 0 | | 480 | 8851 | 602859 |
HP:0011499 | HP:0011499 | Mydriasis | 0 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 68 | 10768 | 605590 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 1683 | 950 | 603089 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 1514 | 950 | 603089 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 67 | 18274 | 605666 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 65 | 18274 | 605666 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 150 | 4379 | 139313 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 129 | 4379 | 139313 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 75 | 4390 | 600998 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 74 | 4390 | 600998 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 0 | | 480 | 8851 | 602859 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 0 | | 578 | 8851 | 602859 |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 68 | 10768 | 605590 |