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:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040282 - Frequent | | | 36 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0007076 | HP:0007076 | Extrapyramidal muscular rigidity | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0007076 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0007076 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0007076 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0007076 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0007076 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0007076 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |