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:0004342 | HP:0004342 | Abnormality of galactoside metabolism | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0004342 | HP:0004342 | Abnormality of galactoside metabolism | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0004342 | HP:0004342 | Abnormality of galactoside metabolism | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0004342 | HP:0004342 | Abnormality of galactoside metabolism | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0004342 | HP:0004342 | Abnormality of galactoside metabolism | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | | | | 120 | | |
HP:0004342 | HP:0004342 | Abnormality of galactoside metabolism | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | | | | 120 | | |
HP:0004342 | HP:0008166 | Decreased beta-galactosidase activity | 1 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | . | | | 51 | | |
HP:0004342 | HP:0008166 | Decreased beta-galactosidase activity | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040280 - Obligate | | | 120 | | |
HP:0004342 | HP:0008166 | Decreased beta-galactosidase activity | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0004342 | HP:0008166 | Decreased beta-galactosidase activity | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | . | | | 120 | | |
HP:0004342 | HP:0008166 | Decreased beta-galactosidase activity | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | . | | | 120 | | |
HP:0004342 | HP:0008166 | Decreased beta-galactosidase activity | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |