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:0200011 | HP:0200011 | Abnormal length of corpus callosum | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 5 | | |
HP:0200011 | HP:0200011 | Abnormal length of corpus callosum | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 8 | | |
HP:0200011 | HP:0200011 | Abnormal length of corpus callosum | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 2 | | |
HP:0200011 | HP:0200011 | Abnormal length of corpus callosum | 0 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | | | | 37 | | |
HP:0200011 | HP:0200011 | Abnormal length of corpus callosum | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0200011 | HP:0200011 | Abnormal length of corpus callosum | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0200011 | HP:0200012 | Short corpus callosum | 1 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0200011 | HP:0200012 | Short corpus callosum | 1 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0200011 | HP:0200012 | Short corpus callosum | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0200011 | HP:0200012 | Short corpus callosum | 1 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040283 - Occasional | | | 37 | | |
HP:0200011 | HP:0200012 | Short corpus callosum | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0200011 | HP:0200012 | Short corpus callosum | 1 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |