Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 355 | 18986 | 609471 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | SCP2 CL E G H | 6342 | 613724 | Leukoencephalopathy with dystonia and motor neuropathy | 613724 | C3150990 | OMIM | 1 | | 394 | 10606 | 184755 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 0 | | 307 | 25443 | 614297 |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |