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:0030455 | HP:0030455 | Abnormality of pattern visual evoked potentials | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0030455 | HP:0030455 | Abnormality of pattern visual evoked potentials | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0030455 | HP:0030455 | Abnormality of pattern visual evoked potentials | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0030455 | HP:0030455 | Abnormality of pattern visual evoked potentials | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | | | | 214 | | |
HP:0030455 | HP:0030455 | Abnormality of pattern visual evoked potentials | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040282 - Frequent | | | 287 | | |
HP:0030455 | HP:0030456 | Abnormality of pattern onset/offset visual evoked potentials | 1 | CL E G H | | | | | | | | | | |
HP:0030455 | HP:0100289 | Abnormality of pattern reversal visual evoked potentials | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0030455 | HP:0100289 | Abnormality of pattern reversal visual evoked potentials | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | | | | 214 | | |
HP:0030455 | HP:0030464 | Asymmetrical distribution of pattern reversal visual evoked potentials | 2 | CL E G H | | | | | | | | | | |
HP:0030455 | HP:0030460 | Abnormal timing of pattern reversal visual evoked potentials | 2 | CL E G H | | | | | | | | | | |
HP:0030455 | HP:0030458 | Abnormal timing of pattern onset/offset visual evoked potentials | 2 | CL E G H | | | | | | | | | | |
HP:0030455 | HP:0030457 | Abnormal amplitude of pattern onset/offset visual evoked potentials | 2 | CL E G H | | | | | | | | | | |
HP:0030455 | HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials | 2 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | . | | | 214 | | |
HP:0030455 | HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials | 2 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |