Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008288 | HP:0008288 | Nonketotic hyperglycinemia | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040281 - Very frequent | | | 17 | | |
HP:0008288 | HP:0008288 | Nonketotic hyperglycinemia | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040283 - Occasional | | | 6 | | |
HP:0008288 | HP:0008288 | Nonketotic hyperglycinemia | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0008288 | HP:0008288 | Nonketotic hyperglycinemia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040282 - Frequent | | | 99 | | |