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:0000571 | HP:0000571 | Hypometric saccades | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 216 | 4593 | 604473 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 216 | 4593 | 604473 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 172 | 19321 | 605955 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 216 | 4593 | 604473 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 216 | 4593 | 604473 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 216 | 4593 | 604473 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 216 | 4593 | 604473 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 172 | 19321 | 605955 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 172 | 19321 | 605955 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 0 | | 235 | 15469 | 608375 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 0 | | 422 | 7154 | 120520 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 0 | | 206 | 10941 | 600111 |
HP:0000571 | HP:0000571 | Hypometric saccades | 0 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 0 | | 716 | 11276 | 604985 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 0 | | 235 | 15469 | 608375 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 0 | | 235 | 15469 | 608375 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 0 | | 422 | 7154 | 120520 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 0 | | 422 | 7154 | 120520 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 0 | | 206 | 10941 | 600111 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 0 | | 206 | 10941 | 600111 |
HP:0000571 | HP:0031833 | Hypometric upward saccades | 1 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 0 | | 716 | 11276 | 604985 |
HP:0000571 | HP:0007975 | Hypometric horizontal saccades | 1 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 0 | | 716 | 11276 | 604985 |