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:0002378 | HP:0002378 | Hand tremor | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | | | | 20 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ADRA2B CL E G H | 151 | 282 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040281 - Very frequent | | | 3 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040283 - Occasional | | | 17 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 114 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | CNTN2 CL E G H | 6900 | 2172 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040281 - Very frequent | | | 9 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040281 - Very frequent | | | 15 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040283 - Occasional | | | 18 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040283 - Occasional | | | 47 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | MARCHF6 CL E G H | 10299 | 30550 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040281 - Very frequent | | | | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | MARS1 CL E G H | 4141 | 6898 | ORPHA:401835 | Autosomal recessive spastic paraplegia type 70 | HP:0040282 - Frequent | | | | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | PDK3 CL E G H | 5165 | 8811 | OMIM:300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | . | | | 4 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040281 - Very frequent | | | 4 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | HP:0040282 - Frequent | | | 135 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SAMD12 CL E G H | 401474 | 31750 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040281 - Very frequent | | | 2 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | . | | | 22 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | | | | 271 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | HP:0040283 - Occasional | | | 18 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:99819 | Familial gestational hyperthyroidism | HP:0040281 - Very frequent | | | 97 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040281 - Very frequent | | | 97 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | YEATS2 CL E G H | 55689 | 25489 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040281 - Very frequent | | | 1 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ZFR CL E G H | 51663 | 17277 | ORPHA:401840 | Autosomal recessive spastic paraplegia type 71 | HP:0040282 - Frequent | | | 1 | | |
HP:0002378 | HP:0002378 | Hand tremor | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040283 - Occasional | | | 189 | | |