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:0002304 | HP:0002304 | Akinesia | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002304 | HP:0002304 | Akinesia | 0 | CHRNA1 CL E G H | 1134 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002304 | HP:0002304 | Akinesia | 0 | CHRND CL E G H | 1144 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002304 | HP:0002304 | Akinesia | 0 | CHRNG CL E G H | 1146 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002304 | HP:0002304 | Akinesia | 0 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0002304 | HP:0002304 | Akinesia | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002304 | HP:0002304 | Akinesia | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002304 | HP:0002304 | Akinesia | 0 | DOK7 CL E G H | 285489 | 994 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0002304 | HP:0002304 | Akinesia | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 1 | | 94 | 3296 | 600495 |
HP:0002304 | HP:0002304 | Akinesia | 0 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0002304 | HP:0002304 | Akinesia | 0 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 141 | 20105 | 610865 |
HP:0002304 | HP:0002304 | Akinesia | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002304 | HP:0002304 | Akinesia | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0002304 | HP:0002304 | Akinesia | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 1 | | 255 | 11960 | 612003 |
HP:0002304 | HP:0002304 | Akinesia | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 1 | | 2226 | 18618 | 609007 |
HP:0002304 | HP:0002304 | Akinesia | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002304 | HP:0002304 | Akinesia | 0 | MUSK CL E G H | 4593 | 994 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0002304 | HP:0002304 | Akinesia | 0 | MYOD1 CL E G H | 4654 | 994 | | | | ORPHA | 1 | | 35 | 7611 | 159970 |
HP:0002304 | HP:0002304 | Akinesia | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002304 | HP:0002304 | Akinesia | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002304 | HP:0002304 | Akinesia | 0 | RAPSN CL E G H | 5913 | 994 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0002304 | HP:0002304 | Akinesia | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002304 | HP:0002304 | Akinesia | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002304 | HP:0002304 | Akinesia | 0 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002304 | HP:0002304 | Akinesia | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0002304 | HP:0002304 | Akinesia | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 521 | 23594 | 608879 |
HP:0002304 | HP:0002304 | Akinesia | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 1 | | 184 | 13487 | 601501 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | CHRNA1 CL E G H | 1134 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | CHRNA1 CL E G H | 1134 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | CHRND CL E G H | 1144 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | CHRND CL E G H | 1144 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | CHRNG CL E G H | 1146 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | CHRNG CL E G H | 1146 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | DOK7 CL E G H | 285489 | 994 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | DOK7 CL E G H | 285489 | 994 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 1 | | 94 | 3296 | 600495 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 1 | | 94 | 3296 | 600495 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 141 | 20105 | 610865 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 141 | 20105 | 610865 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 1 | | 255 | 11960 | 612003 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 1 | | 255 | 11960 | 612003 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 1 | | 2226 | 18618 | 609007 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 1 | | 2226 | 18618 | 609007 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | MUSK CL E G H | 4593 | 994 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | MUSK CL E G H | 4593 | 994 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | MYOD1 CL E G H | 4654 | 994 | | | | ORPHA | 1 | | 35 | 7611 | 159970 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | MYOD1 CL E G H | 4654 | 994 | | | | ORPHA | 1 | | 35 | 7611 | 159970 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | RAPSN CL E G H | 5913 | 994 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | RAPSN CL E G H | 5913 | 994 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 521 | 23594 | 608879 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 521 | 23594 | 608879 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 1 | | 184 | 13487 | 601501 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 1 | | 184 | 13487 | 601501 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002304 | HP:0002304 | Akinesia | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 0 | | 208 | 3671 | 601515 |
HP:0002304 | HP:0033411 | Lower extremity akinesia | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 0 | | 208 | 3671 | 601515 |
HP:0002304 | HP:0033412 | Upper extremity akinesia | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 0 | | 208 | 3671 | 601515 |