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:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | DIAPH3 CL E G H | 81624 | 15480 | OMIM:609129 | Auditory neuropathy, autosomal dominant, 1 | . | | | 8 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | . | | | 55 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | | | | 160 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:320401 | Autosomal recessive spastic paraplegia type 44 | HP:0040281 - Very frequent | | | 37 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040282 - Frequent | | | 44 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | . | | | 88 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0006958 | HP:0006958 | Abnormal auditory 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:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | OTOF CL E G H | 9381 | 8515 | OMIM:601071 | Deafness, autosomal recessive 9 | | | | 383 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:616515 | Deafness, autosomal recessive 104 | | | | 1 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0006958 | HP:0006958 | Abnormal auditory evoked potentials | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 158 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 199 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 55 | | |
HP:0006958 | HP:0004466 | Prolonged brainstem auditory evoked potentials | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0006958 | HP:0004466 | Prolonged brainstem auditory evoked potentials | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0006958 | HP:0004466 | Prolonged brainstem auditory evoked potentials | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040282 - Frequent | | | 214 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | OTOF CL E G H | 9381 | 8515 | OMIM:601071 | Deafness, autosomal recessive 9 | . | | | 383 | | |
HP:0006958 | HP:0004466 | Prolonged brainstem auditory evoked potentials | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 81 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:616515 | Deafness, autosomal recessive 104 | | | | 1 | | |
HP:0006958 | HP:0004466 | Prolonged brainstem auditory evoked potentials | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0006958 | HP:0004463 | Absent brainstem auditory responses | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |