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:0002070 | HP:0002070 | Limb ataxia | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040281 - Very frequent | | | 86 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | . | | | 64 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040282 - Frequent | | | 16 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | . | | | 1 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | HP:0040283 - Occasional | | | 4 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | . | | | 44 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CSTB CL E G H | 1476 | 2482 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040281 - Very frequent | | | 51 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040283 - Occasional | | | 57 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040281 - Very frequent | | | 4 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | . | | | 4 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FAT2 CL E G H | 2196 | 3596 | OMIM:617769 | Spinocerebellar ataxia 45 | . | | | 2 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | . | | | 3 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040282 - Frequent | | | 47 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040281 - Very frequent | | | 18 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040281 - Very frequent | | | 18 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | . | | | 177 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | . | | | 17 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040282 - Frequent | | | 18 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040281 - Very frequent | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PDYN CL E G H | 5173 | 8820 | ORPHA:101108 | Spinocerebellar ataxia type 23 | HP:0040281 - Very frequent | | | 52 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRICKLE1 CL E G H | 144165 | 17019 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040281 - Very frequent | | | 133 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040282 - Frequent | | | 83 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | RUBCN CL E G H | 9711 | 28991 | ORPHA:404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | . | | | 2 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | . | | | 62 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040281 - Very frequent | | | 14 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | . | | | 1129 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:605021 | Myoclonic epilepsy, familial infantile | | | | 271 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040282 - Frequent | | | 58 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | . | | | 13 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040282 - Frequent | | | 83 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:284282 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | HP:0040281 - Very frequent | | | 149 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:614322 | Spinocerebellar ataxia, autosomal recessive 12 | . | | | 149 | | |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |