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:0007206 | HP:0007206 | Hemimegalencephaly | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | HP:0040282 - Frequent | | | 19 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | | | | 19 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | DEPDC5 CL E G H | 9681 | 18423 | OMIM:604364 | Epilepsy, familial focal, with variable foci | | | | 172 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040284 - Very rare | | | 172 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:607341 | Focal cortical dysplasia of taylor | | | | 68 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | HP:0040282 - Frequent | | | 68 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040284 - Very rare | | | 4 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040284 - Very rare | | | 7 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | HP:0040282 - Frequent | | | 162 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:607341 | Focal cortical dysplasia of taylor | | | | 1090 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:607341 | Focal cortical dysplasia of taylor | | | | 2738 | | |
HP:0007206 | HP:0007206 | Hemimegalencephaly | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |