Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0002453 | HP:0002453 | Abnormal globus pallidus morphology | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002453 | HP:0002453 | Abnormal globus pallidus morphology | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0002453 | HP:0002453 | Abnormal globus pallidus morphology | 0 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 896 | 7526 | 609058 |
HP:0002453 | HP:0002453 | Abnormal globus pallidus morphology | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0002453 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002453 | HP:0031627 | Globus pallidus calcification | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002453 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002453 | HP:0007132 | Pallidal degeneration | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002453 | HP:0012677 | Iron accumulation in globus pallidus | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002453 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0002453 | HP:0007132 | Pallidal degeneration | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0002453 | HP:0012677 | Iron accumulation in globus pallidus | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0002453 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0002453 | HP:0031627 | Globus pallidus calcification | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0002453 | HP:0007132 | Pallidal degeneration | 1 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 896 | 7526 | 609058 |
HP:0002453 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 1 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 896 | 7526 | 609058 |
HP:0002453 | HP:0012677 | Iron accumulation in globus pallidus | 1 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 896 | 7526 | 609058 |
HP:0002453 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 1 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 896 | 7526 | 609058 |
HP:0002453 | HP:0031627 | Globus pallidus calcification | 1 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 896 | 7526 | 609058 |
HP:0002453 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0002453 | HP:0007132 | Pallidal degeneration | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0002453 | HP:0012677 | Iron accumulation in globus pallidus | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0002453 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0002453 | HP:0031627 | Globus pallidus calcification | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002453 | HP:0002453 | Abnormal globus pallidus morphology | 0 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 0 | | 291 | 20582 | 610670 |
HP:0002453 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 1 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 0 | | 291 | 20582 | 610670 |
HP:0002453 | HP:0031627 | Globus pallidus calcification | 1 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 0 | | 291 | 20582 | 610670 |
HP:0002453 | HP:0007132 | Pallidal degeneration | 1 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 0 | | 291 | 20582 | 610670 |
HP:0002453 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 1 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 0 | | 291 | 20582 | 610670 |
HP:0002453 | HP:0012677 | Iron accumulation in globus pallidus | 1 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 0 | | 291 | 20582 | 610670 |