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:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | CLIC5 CL E G H | 53405 | 13517 | OMIM:616042 | Deafness, autosomal recessive 103 | | | | 1 | | |
HP:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:609006 | Deafness, autosomal recessive 36, with or without vestibular involvement | | | | 33 | | |
HP:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | |
HP:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | RFC1 CL E G H | 5981 | 9969 | ORPHA:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | | | | | | |
HP:0007670 | HP:0007670 | Abnormal vestibulo-ocular reflex | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0007670 | HP:0032100 | Abnormal doll's eye reflex | 1 | CL E G H | | | | | | | | | | |
HP:0007670 | HP:0008568 | Vestibular areflexia | 1 | CLIC5 CL E G H | 53405 | 13517 | OMIM:616042 | Deafness, autosomal recessive 103 | . | | | 1 | | |
HP:0007670 | HP:0008568 | Vestibular areflexia | 1 | ESPN CL E G H | 83715 | 13281 | OMIM:609006 | Deafness, autosomal recessive 36, with or without vestibular involvement | . | | | 33 | | |
HP:0007670 | HP:0030183 | Impaired visually enhanced vestibulo-ocular reflex | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0007670 | HP:0008568 | Vestibular areflexia | 1 | RFC1 CL E G H | 5981 | 9969 | ORPHA:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | HP:0040282 - Frequent | | | | | |
HP:0007670 | HP:0008568 | Vestibular areflexia | 1 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |