Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001310	HP:0001310	Dysmetria	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0001310	HP:0001310	Dysmetria	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001310	HP:0001310	Dysmetria	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001310	HP:0001310	Dysmetria	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0001310	HP:0001310	Dysmetria	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0001310	HP:0001310	Dysmetria	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0001310	HP:0001310	Dysmetria	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0001310	HP:0001310	Dysmetria	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0001310	HP:0001310	Dysmetria	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0001310	HP:0001310	Dysmetria	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0001310	HP:0001310	Dysmetria	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0001310	HP:0001310	Dysmetria	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001310	HP:0001310	Dysmetria	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0001310	HP:0001310	Dysmetria	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0001310	HP:0001310	Dysmetria	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0001310	HP:0001310	Dysmetria	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0001310	HP:0001310	Dysmetria	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0001310	HP:0001310	Dysmetria	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0001310	HP:0001310	Dysmetria	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0001310	HP:0001310	Dysmetria	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0001310	HP:0001310	Dysmetria	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0001310	HP:0001310	Dysmetria	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0001310	HP:0001310	Dysmetria	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent	9
HP:0001310	HP:0001310	Dysmetria	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0001310	HP:0001310	Dysmetria	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0001310	HP:0001310	Dysmetria	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040280 - Obligate	8
HP:0001310	HP:0001310	Dysmetria	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001310	HP:0001310	Dysmetria	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0001310	HP:0001310	Dysmetria	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0001310	HP:0001310	Dysmetria	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0001310	HP:0001310	Dysmetria	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0001310	HP:0001310	Dysmetria	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0001310	HP:0001310	Dysmetria	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001310	HP:0001310	Dysmetria	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0001310	HP:0001310	Dysmetria	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0001310	HP:0001310	Dysmetria	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0001310	HP:0001310	Dysmetria	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0001310	HP:0001310	Dysmetria	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	HP:0040283 - Occasional	141
HP:0001310	HP:0001310	Dysmetria	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0001310	HP:0001310	Dysmetria	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001310	HP:0001310	Dysmetria	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001310	HP:0001310	Dysmetria	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0001310	HP:0001310	Dysmetria	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0001310	HP:0001310	Dysmetria	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0001310	HP:0001310	Dysmetria	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0001310	HP:0001310	Dysmetria	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0001310	HP:0001310	Dysmetria	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37		4
HP:0001310	HP:0001310	Dysmetria	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0001310	HP:0001310	Dysmetria	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001310	HP:0001310	Dysmetria	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0001310	HP:0001310	Dysmetria	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001310	HP:0001310	Dysmetria	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent	36
HP:0001310	HP:0001310	Dysmetria	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001310	HP:0001310	Dysmetria	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0001310	HP:0001310	Dysmetria	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0001310	HP:0001310	Dysmetria	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001310	HP:0001310	Dysmetria	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0001310	HP:0001310	Dysmetria	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0001310	HP:0001310	Dysmetria	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0001310	HP:0001310	Dysmetria	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0001310	HP:0001310	Dysmetria	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional	107
HP:0001310	HP:0001310	Dysmetria	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0001310	HP:0001310	Dysmetria	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0001310	HP:0001310	Dysmetria	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001310	HP:0001310	Dysmetria	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0001310	HP:0001310	Dysmetria	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0001310	HP:0001310	Dysmetria	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent	8
HP:0001310	HP:0001310	Dysmetria	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0001310	HP:0001310	Dysmetria	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0001310	HP:0001310	Dysmetria	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001310	HP:0001310	Dysmetria	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001310	HP:0001310	Dysmetria	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001310	HP:0001310	Dysmetria	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0001310	HP:0001310	Dysmetria	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.	32
HP:0001310	HP:0001310	Dysmetria	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0001310	HP:0001310	Dysmetria	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent	1
HP:0001310	HP:0001310	Dysmetria	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0001310	HP:0001310	Dysmetria	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0001310	HP:0001310	Dysmetria	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0001310	HP:0001310	Dysmetria	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0001310	HP:0001310	Dysmetria	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	HP:0040282 - Frequent	276
HP:0001310	HP:0001310	Dysmetria	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0001310	HP:0001310	Dysmetria	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0001310	HP:0001310	Dysmetria	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0001310	HP:0001310	Dysmetria	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0001310	HP:0001310	Dysmetria	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0001310	HP:0001310	Dysmetria	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0001310	HP:0001310	Dysmetria	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0001310	HP:0001310	Dysmetria	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0001310	HP:0001310	Dysmetria	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent	25
HP:0001310	HP:0001310	Dysmetria	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.	25
HP:0001310	HP:0001310	Dysmetria	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001310	HP:0001310	Dysmetria	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001310	HP:0001310	Dysmetria	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0001310	HP:0001310	Dysmetria	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001310	HP:0001310	Dysmetria	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001310	HP:0001310	Dysmetria	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0001310	HP:0001310	Dysmetria	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0001310	HP:0001310	Dysmetria	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0001310	HP:0001310	Dysmetria	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.	26
HP:0001310	HP:0001310	Dysmetria	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0001310	HP:0001310	Dysmetria	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0001310	HP:0001310	Dysmetria	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001310	HP:0001310	Dysmetria	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0001310	HP:0001310	Dysmetria	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001310	HP:0001310	Dysmetria	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0001310	HP:0001310	Dysmetria	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0001310	HP:0001310	Dysmetria	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0001310	HP:0001310	Dysmetria	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0001310	HP:0001310	Dysmetria	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0001310	HP:0001310	Dysmetria	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0001310	HP:0001310	Dysmetria	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0001310	HP:0001310	Dysmetria	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent	52
HP:0001310	HP:0001310	Dysmetria	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0001310	HP:0001310	Dysmetria	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0001310	HP:0001310	Dysmetria	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0001310	HP:0001310	Dysmetria	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001310	HP:0001310	Dysmetria	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0001310	HP:0001310	Dysmetria	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0001310	HP:0001310	Dysmetria	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0001310	HP:0001310	Dysmetria	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0001310	HP:0001310	Dysmetria	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0001310	HP:0001310	Dysmetria	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001310	HP:0001310	Dysmetria	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent	7
HP:0001310	HP:0001310	Dysmetria	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0001310	HP:0001310	Dysmetria	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0001310	HP:0001310	Dysmetria	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0001310	HP:0001310	Dysmetria	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0001310	HP:0001310	Dysmetria	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001310	HP:0001310	Dysmetria	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0001310	HP:0001310	Dysmetria	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0001310	HP:0001310	Dysmetria	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0001310	HP:0001310	Dysmetria	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0001310	HP:0001310	Dysmetria	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0001310	HP:0001310	Dysmetria	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0001310	HP:0001310	Dysmetria	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0001310	HP:0001310	Dysmetria	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12		5
HP:0001310	HP:0001310	Dysmetria	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0001310	HP:0001310	Dysmetria	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0001310	HP:0001310	Dysmetria	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0001310	HP:0001310	Dysmetria	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0001310	HP:0001310	Dysmetria	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.	69
HP:0001310	HP:0001310	Dysmetria	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0001310	HP:0001310	Dysmetria	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0001310	HP:0001310	Dysmetria	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0001310	HP:0001310	Dysmetria	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0001310	HP:0001310	Dysmetria	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0001310	HP:0001310	Dysmetria	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0001310	HP:0001310	Dysmetria	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0001310	HP:0001310	Dysmetria	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0001310	HP:0001310	Dysmetria	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0001310	HP:0001310	Dysmetria	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001310	HP:0001310	Dysmetria	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0001310	HP:0001310	Dysmetria	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309
HP:0001310	HP:0001310	Dysmetria	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001310	HP:0001310	Dysmetria	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0001310	HP:0001310	Dysmetria	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional	357
HP:0001310	HP:0001310	Dysmetria	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.	17
HP:0001310	HP:0001310	Dysmetria	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001310	HP:0001310	Dysmetria	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0001310	HP:0001310	Dysmetria	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0001310	HP:0001310	Dysmetria	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0001310	HP:0001310	Dysmetria	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001310	HP:0001310	Dysmetria	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0001310	HP:0001310	Dysmetria	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0001310	HP:0001310	Dysmetria	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001310	HP:0001310	Dysmetria	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0001310	HP:0001310	Dysmetria	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	126
HP:0001310	HP:0001310	Dysmetria	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0001310	HP:0001310	Dysmetria	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0001310	HP:0001310	Dysmetria	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0001310	HP:0001310	Dysmetria	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0001310	HP:0001310	Dysmetria	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001310	HP:0001310	Dysmetria	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0001310	HP:0001310	Dysmetria	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0001310	HP:0001310	Dysmetria	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0001310	HP:0001310	Dysmetria	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0001310	HP:0001310	Dysmetria	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0001310	HP:0001310	Dysmetria	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0001310	HP:0001310	Dysmetria	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0001310	HP:0001310	Dysmetria	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0001310	HP:0001310	Dysmetria	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0001310	HP:0001310	Dysmetria	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0001310	HP:0001310	Dysmetria	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001310	HP:0001310	Dysmetria	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0001310	HP:0001310	Dysmetria	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0001310	HP:0001310	Dysmetria	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0001310	HP:0001310	Dysmetria	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent	62
HP:0001310	HP:0001310	Dysmetria	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0001310	HP:0001310	Dysmetria	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001310	HP:0001310	Dysmetria	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0001310	HP:0001310	Dysmetria	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0001310	HP:0001310	Dysmetria	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0001310	HP:0001310	Dysmetria	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001310	HP:0001310	Dysmetria	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0001310	HP:0001310	Dysmetria	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0001310	HP:0001310	Dysmetria	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0001310	HP:0001310	Dysmetria	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0001310	HP:0001310	Dysmetria	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0001310	HP:0001310	Dysmetria	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0001310	HP:0001310	Dysmetria	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0001310	HP:0001310	Dysmetria	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0001310	HP:0002406	Limb dysmetria	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0001310	HP:0002406	Limb dysmetria	1	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent	4
HP:0001310	HP:0002406	Limb dysmetria	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001310	HP:0002406	Limb dysmetria	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent	8
HP:0001310	HP:0002406	Limb dysmetria	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0001310	HP:0002406	Limb dysmetria	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0001310	HP:0002406	Limb dysmetria	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0001310	HP:0002406	Limb dysmetria	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0001310	HP:0002406	Limb dysmetria	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0001310	HP:0002406	Limb dysmetria	1	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040282 - Frequent	5
HP:0001310	HP:0002406	Limb dysmetria	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	3
HP:0001310	HP:0002406	Limb dysmetria	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	125
HP:0001310	HP:0002406	Limb dysmetria	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0001310	HP:0002406	Limb dysmetria	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0001310	HP:0020036	Upper limb dysmetria	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001310	HP:0020035	Lower limb dysmetria	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952