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:0032104 | HP:0032104 | Saccadic oscillation | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 102 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 2 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 82 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 44 | | |
HP:0032104 | HP:0032104 | Saccadic oscillation | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | | | | | | |
HP:0032104 | HP:0031931 | Ocular flutter | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0032104 | HP:0031931 | Ocular flutter | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0032104 | HP:0031931 | Ocular flutter | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0032104 | HP:0031931 | Ocular flutter | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0032104 | HP:0031931 | Ocular flutter | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | . | | | 27 | | |
HP:0032104 | HP:0031931 | Ocular flutter | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0032104 | HP:0010543 | Opsoclonus | 1 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0032104 | HP:0032105 | Macrosaccadic oscillations | 1 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |