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:0002078 | HP:0002078 | Truncal ataxia | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | . | | | 64 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | AP2M1 CL E G H | 1173 | 564 | OMIM:618587 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 | | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATCAY CL E G H | 85300 | 779 | OMIM:601238 | Cerebellar ataxia, Cayman type | | | | 72 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | HP:0040282 - Frequent | | | 72 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | . | | | 1 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040282 - Frequent | | | 16 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATP8A2 CL E G H | 51761 | 13533 | OMIM:615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4 | . | | | 24 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | | | | 146 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:211067 | Episodic ataxia type 5 | HP:0040282 - Frequent | | | 146 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | | | | 146 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | . | | | 7 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | COG5 CL E G H | 10466 | 14857 | OMIM:613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I | | | | 79 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | . | | | 9 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040283 - Occasional | | | 57 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040282 - Frequent | | | 4 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040282 - Frequent | | | 4 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040282 - Frequent | | | 47 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040284 - Very rare | | | 30 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0002078 | HP:0002078 | Truncal 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:0002078 | HP:0002078 | Truncal ataxia | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:614504 | Usher syndrome, type IIIB | . | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | | | | 106 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040281 - Very frequent | | | 9 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | | | | 304 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040283 - Occasional | | | 42 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 126 | | |
HP:0002078 | HP:0002078 | Truncal 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:0002078 | HP:0002078 | Truncal ataxia | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040283 - Occasional | | | 27 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | UROC1 CL E G H | 131669 | 26444 | OMIM:276880 | Urocanase deficiency | | | | 8 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | HP:0040281 - Very frequent | | | 8 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0002078 | HP:0002078 | Truncal ataxia | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0002078 | HP:0007221 | Progressive truncal ataxia | 1 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040282 - Frequent | | | 106 | | |
HP:0002078 | HP:0007221 | Progressive truncal ataxia | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | . | | | 309 | | |