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:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:86820 | Familial avascular necrosis of femoral head | HP:0040282 - Frequent | | | 284 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 9 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0007311 | HP:0007311 | Short stepped shuffling gait | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:86820 | Familial avascular necrosis of femoral head | HP:0040282 - Frequent | | | 214 | | |