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: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0030453 | HP:0030453 | Abnormal visual electrophysiology | 0 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0000649 | Abnormality of visual evoked potentials | 1 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030454 | Abnormal electrooculogram | 1 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0000512 | Abnormal electroretinogram | 1 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030466 | Abnormal full-field electroretinogram | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0000550 | Undetectable electroretinogram | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030468 | Abnormal multifocal electroretinogram | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030467 | Abnormal pattern electroretinogram | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0007965 | Undetectable visual evoked potentials | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0031155 | Increased Arden ratio of electrooculogram | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030455 | Abnormality of pattern visual evoked potentials | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0007928 | Abnormal flash visual evoked potentials | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0008179 | Decreased Arden ratio of electrooculogram | 2 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030488 | Abnormal central response of multifocal electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030487 | Abnormal P50/N95 ratio of pattern electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0008323 | Abnormal light- and dark-adapted electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030461 | Abnormal timing of flash visual evoked potentials | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030485 | Abnormal amplitude of pattern electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0008275 | Abnormal light-adapted electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030456 | Abnormality of pattern onset/offset visual evoked potentials | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030844 | Undetectable pattern electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030462 | Abnormal amplitude of flash visual evoked potentials | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0100289 | Abnormality of pattern reversal visual evoked potentials | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030489 | Abnormal paracentral response of multifocal electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030486 | Abnormal timing of pattern electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030463 | Asymmetrical distribution of flash visual evoked potentials | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030469 | Abnormal dark-adapted electroretinogram | 3 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030460 | Abnormal timing of pattern reversal visual evoked potentials | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030471 | Abnormal dark-adapted dim flash electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030473 | Abnormal light-adapted flicker electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030457 | Abnormal amplitude of pattern onset/offset visual evoked potentials | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030474 | Undetectable dark-adapted electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0008045 | Enlarged flash visual evoked potentials | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030472 | Abnormal light-adapted single flash electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0007688 | Undetectable light- and dark-adapted electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030465 | Undetectable light-adapted electroretinogram | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030464 | Asymmetrical distribution of pattern reversal visual evoked potentials | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030458 | Abnormal timing of pattern onset/offset visual evoked potentials | 4 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030481 | Abnormal amplitude of light-adapted single flash electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030477 | Abnormal timing of dark-adapted bright flash electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030475 | Abnormal timing of dark-adapted dim flash electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030480 | Abnormal timing of light-adapted flicker electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030476 | Abnormal amplitude of dark-adapted dim flash electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030479 | Abnormal amplitude of light-adapted flicker electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030482 | Abnormal timing of light-adapted single flash electroretinogram | 5 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0007984 | Electronegative electroretinogram | 6 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030484 | Supernormal dark-adapted bright flash electroretinogram b-wave | 6 | CL E G H | | | | | | | | | | | |
HP:0030453 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 6 | CL E G H | | | | | | | | | | | |