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:0030588 | HP:0030588 | Abnormal visual field test | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0030588 | HP:0030588 | Abnormal visual field test | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0030588 | HP:0030592 | Abnormal static perimetry test | 1 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030590 | Abnormal Amsler grid test | 1 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030589 | Abnormal confrontational visual field test | 1 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0030588 | HP:0030591 | Abnormal kinetic perimetry test | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0030588 | HP:0030595 | Abnormal static automated perimetry test | 2 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030594 | Abnormal automated kinetic perimetry test | 2 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030593 | Abnormal manual kinetic perimetry test | 2 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030599 | Abnormal Estermann grid perimetry test | 3 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030598 | Abnormal Humphrey SITA 10-2 perimetry test | 3 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030597 | Abnormal Humphrey SITA 24-2 perimetry test | 3 | CL E G H | | | | | | | | | | |
HP:0030588 | HP:0030596 | Abnormal Humphrey SITA 30-2 perimetry test | 3 | CL E G H | | | | | | | | | | |