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:0001756 | HP:0001756 | Vestibular hypofunction | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:276900 | Usher syndrome, type I | | | | 516 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | OTOGL CL E G H | 283310 | 26901 | OMIM:614944 | Deafness, autosomal recessive 84B | HP:0040283 - Occasional | | | 105 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276900 | Usher syndrome, type I | | | | 173 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276904 | Usher syndrome, type IC | . | | | 173 | | |
HP:0001756 | HP:0001756 | Vestibular hypofunction | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0001756 | HP:0008555 | Absent vestibular function | 1 | MYO7A CL E G H | 4647 | 7606 | OMIM:276900 | Usher syndrome, type I | . | | | 516 | | |
HP:0001756 | HP:0008555 | Absent vestibular function | 1 | USH1C CL E G H | 10083 | 12597 | OMIM:276900 | Usher syndrome, type I | . | | | 173 | | |