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:0025404 | HP:0025404 | Abnormal visual fixation | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | | | | 48 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | | | | 10 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | | | | 7 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | | | | 82 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | | | | 194 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | | | | 19 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | | | | 177 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | | | | 80 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | | | | 14 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | HP:0040282 - Frequent | | | 57 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | | | | | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | | | | 200 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0025404 | HP:0025404 | Abnormal visual fixation | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040281 - Very frequent | | | 48 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 10 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | HP:0040283 - Occasional | | | 7 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 82 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 194 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 19 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040283 - Occasional | | | 177 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 80 | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 14 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0025404 | HP:0025549 | Eccentric visual fixation | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 200 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040282 - Frequent | | | 11 | | |
HP:0025404 | HP:0025405 | Visual fixation instability | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0025404 | HP:0500072 | Absolute eccentric fixation | 2 | CL E G H | | | | | | | | | | |
HP:0025404 | HP:0031769 | Peripheral fixation | 2 | CL E G H | | | | | | | | | | |
HP:0025404 | HP:0031768 | Parafoveal fixation | 2 | CL E G H | | | | | | | | | | |