Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040283 - Occasional | | | 114 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:86820 | Familial avascular necrosis of femoral head | | | | 284 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040283 - Occasional | | | 6 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | . | | | 81 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | . | | | 134 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | . | | | 950 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040283 - Occasional | | | 6 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | HP:0040282 - Frequent | | | 223 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | . | | | 2 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040283 - Occasional | | | 9 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:86820 | Familial avascular necrosis of femoral head | | | | 214 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0002362 | HP:0002362 | Shuffling gait | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:86820 | Familial avascular necrosis of femoral head | HP:0040282 - Frequent | | | 284 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 9 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002362 | HP:0007311 | Short stepped shuffling gait | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:86820 | Familial avascular necrosis of femoral head | HP:0040282 - Frequent | | | 214 | | |