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:0007016 | HP:0007016 | Corticospinal tract hypoplasia | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0007016 | HP:0007016 | Corticospinal tract hypoplasia | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007016 | HP:0007016 | Corticospinal tract hypoplasia | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0007016 | HP:0007016 | Corticospinal tract hypoplasia | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:307000 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | . | | | 134 | | |
HP:0007016 | HP:0007016 | Corticospinal tract hypoplasia | 0 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040283 - Occasional | | | 37 | | |
HP:0007016 | HP:0007016 | Corticospinal tract hypoplasia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |