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:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | CCM2 CL E G H | 83605 | 21708 | ORPHA:221061 | Familial cerebral cavernous malformation | HP:0040282 - Frequent | | | 37 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | KRIT1 CL E G H | 889 | 1573 | ORPHA:221061 | Familial cerebral cavernous malformation | HP:0040282 - Frequent | | | 92 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | PDCD10 CL E G H | 11235 | 8761 | ORPHA:221061 | Familial cerebral cavernous malformation | HP:0040282 - Frequent | | | 21 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0012748 | HP:0012748 | Focal T2 hyperintense brainstem lesion | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |