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:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0007183 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HPO disease - gene - phenotype less frequent non-typical associations: |