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:0007906 | HP:0007906 | Ocular hypertension | 0 | ADAMTS17 CL E G H | 170691 | 613195 | Weill-Marchesani-like syndrome | 613195 | C2750787 | OMIM | 1 | | 751 | 17109 | 607511 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | ADAMTS17 CL E G H | 170691 | 613195 | Weill-Marchesani-like syndrome | 613195 | C2750787 | OMIM | 1 | | 599 | 17109 | 607511 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | ASB10 CL E G H | 136371 | 603383 | Glaucoma 1, open angle, F | 603383 | C1863926 | OMIM | 1 | | 163 | 17185 | 615054 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | ASB10 CL E G H | 136371 | 603383 | Glaucoma 1, open angle, F | 603383 | C1863926 | OMIM | 1 | | 155 | 17185 | 615054 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | CYP1B1 CL E G H | 1545 | 231300 | Glaucoma 3, primary congenital, A | 231300 | C1856439 | OMIM | 1 | | 256 | 2597 | 601771 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | CYP1B1 CL E G H | 1545 | 231300 | Glaucoma 3, primary congenital, A | 231300 | C1856439 | OMIM | 1 | | 243 | 2597 | 601771 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | FOXE3 CL E G H | 2301 | 610256 | Congenital primary aphakia | 610256 | C1853230 | OMIM | 1 | | 176 | 3808 | 601094 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | FOXE3 CL E G H | 2301 | 610256 | Congenital primary aphakia | 610256 | C1853230 | OMIM | 1 | | 152 | 3808 | 601094 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 19 | 4931 | 142800 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | HMX1 CL E G H | 3166 | 612109 | Oculoauricular syndrome | 612109 | C2677500 | OMIM | 1 | | 257 | 5017 | 142992 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | HMX1 CL E G H | 3166 | 612109 | Oculoauricular syndrome | 612109 | C2677500 | OMIM | 1 | | 194 | 5017 | 142992 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | LTBP2 CL E G H | 4053 | 614819 | Weill-Marchesani syndrome 3 | 614819 | C3553785 | OMIM | 1 | | 619 | 6715 | 602091 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | LTBP2 CL E G H | 4053 | 614819 | Weill-Marchesani syndrome 3 | 614819 | C3553785 | OMIM | 1 | | 402 | 6715 | 602091 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | PITX3 CL E G H | 5309 | 107250 | Anterior segment mesenchymal dysgenesis | 107250 | C1862839 | OMIM | 1 | | 41 | 9006 | 602669 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | PITX3 CL E G H | 5309 | 107250 | Anterior segment mesenchymal dysgenesis | 107250 | C1862839 | OMIM | 1 | | 39 | 9006 | 602669 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | TEK CL E G H | 7010 | 617272 | Glaucoma 3, primary congenital, E | 617272 | C4310639 | OMIM | 1 | | 318 | 11724 | 600221 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | TEK CL E G H | 7010 | 617272 | Glaucoma 3, primary congenital, E | 617272 | C4310639 | OMIM | 1 | | 298 | 11724 | 600221 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 1683 | 950 | 603089 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 1514 | 950 | 603089 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 65 | 18274 | 605666 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 67 | 18274 | 605666 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 150 | 4379 | 139313 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 129 | 4379 | 139313 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 74 | 4390 | 600998 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 75 | 4390 | 600998 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | PRSS56 CL E G H | 646960 | 613517 | Microphthalmia, isolated 6 | 613517 | C3150757 | OMIM | 0 | | 110 | 39433 | 613858 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | PRSS56 CL E G H | 646960 | 613517 | Microphthalmia, isolated 6 | 613517 | C3150757 | OMIM | 0 | | 96 | 39433 | 613858 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | PXDN CL E G H | 7837 | 269400 | Anterior segment dysgenesis 7 | 269400 | C3151617 | OMIM | 0 | | 329 | 14966 | 605158 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | PXDN CL E G H | 7837 | 269400 | Anterior segment dysgenesis 7 | 269400 | C3151617 | OMIM | 0 | | 308 | 14966 | 605158 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 68 | 10768 | 605590 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0007906 | HP:0007906 | Ocular hypertension | 0 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |