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:0002070 | HP:0002070 | Limb ataxia | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1220 | 61 | 300371 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 240 | 25519 | 613726 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 240 | 25519 | 613726 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 35 | 24160 | 612051 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 227 | 2020 | 600570 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 1 | | 245 | 2482 | 601145 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 204 | 3214 | 130610 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 63 | 21308 | 611805 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 208 | 3671 | 601515 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 143 | 3951 | 606829 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | GJB1 CL E G H | 2705 | 1175 | CDK4 linked melanoma | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 216 | 6235 | 176264 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 216 | 6235 | 176264 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1015 | 6826 | 609458 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NOP56 CL E G H | 10528 | 276198 | | | | ORPHA | 1 | | 42 | 15911 | 614154 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 167 | 8820 | 131340 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 167 | 8820 | 131340 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 22 | 17158 | 615698 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 140 | 18667 | 613036 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 1 | | 488 | 17019 | 608500 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 290 | 9402 | 176980 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | RTN2 CL E G H | 6253 | 100993 | | | | ORPHA | 1 | | 184 | 10468 | 603183 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 118 | 28991 | 613516 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 1 | | 422 | 1665 | 602257 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SCN1B CL E G H | 6324 | 617350 | Epileptic encephalopathy, early infantile, 52 | 617350 | C4479236 | OMIM | 1 | | 444 | 10586 | 600235 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 1 | | 1290 | 445 | 608465 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 229 | 24624 | 608005 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 1 | | 170 | 11427 | 607207 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 170 | 11427 | 607207 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4598 | 17089 | 608441 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SYT14 CL E G H | 255928 | 284271 | | | | ORPHA | 1 | | 92 | 23143 | 610949 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | SYT14 CL E G H | 255928 | 614229 | Spinocerebellar ataxia, autosomal recessive 11 | 614229 | C3280226 | OMIM | 1 | | 92 | 23143 | 610949 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 52 | 25622 | 617687 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 1 | | 289 | 16255 | 613900 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 157 | 23230 | 610552 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | VAMP1 CL E G H | 6843 | 251282 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | WASHC5 CL E G H | 9897 | 100989 | | | | ORPHA | 1 | | 527 | 28984 | 610657 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 967 | 12799 | 605131 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 52 | 12828 | 194360 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 0 | | 124 | 1476 | 114220 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 0 | | 333 | 2652 | 603711 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0002070 | HP:0002070 | Limb ataxia | 0 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 0 | | 42 | 15911 | 614154 |