PedAM

Pediatric Disease Annotations & Medicines


	ataxia

Disease ID	515
Disease	ataxia
Definition	Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Synonym	[d]ataxia [d]ataxia (context-dependent category) [d]ataxia (situation) [d]ataxia nos [d]ataxia nos (context-dependent category) [d]ataxia nos (situation) ataxia (finding) ataxia (loss of muscle coordination) ataxia [d] ataxia [d] (finding) ataxia [d] (situation) ataxia [disease/finding] ataxia nos ataxia, nos ataxias ataxy coordination impairment coordination impairments dyssynergia impairment, coordination impairments, coordination
UMLS	C0004134
MeSH	D001259
SNOMED-CT	SNOMEDCT_US_2016_09_01:20262006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:182) C0003635 \| apraxia \| 65 C0271270 \| oculomotor apraxia \| 58 C0442874 \| neuropathy \| 49 C0270921 \| axonal neuropathy \| 25 C0042875 \| vitamin e deficiency \| 22 C0014544 \| epilepsy \| 15 C0878544 \| cardiomyopathy \| 15 C0028738 \| nystagmus \| 13 C0013421 \| dystonia \| 12 C0393571 \| multiple system atrophy \| 9 C0007193 \| dilated cardiomyopathy \| 9 C0002871 \| anemia \| 9 C0151313 \| sensory neuropathy \| 8 C0025362 \| mental retardation \| 8 C0497327 \| dementia \| 8 C0031117 \| peripheral neuropathy \| 7 C0235025 \| motor neuropathy \| 7 C0029124 \| optic atrophy \| 7 C0002896 \| sideroblastic anemia \| 7 C0221018 \| x-linked sideroblastic anemia \| 6 C0035334 \| retinitis pigmentosa \| 5 C0035333 \| retinitis \| 5 C0027765 \| neurological disorder \| 5 C0014038 \| encephalitis \| 5 C0026848 \| myopathy \| 4 C0270612 \| leukoencephalopathy \| 4 C0007758 \| cerebellar ataxia \| 4 C0743039 \| progressive dementia \| 4 C0030486 \| paraplegia \| 4 C0024299 \| lymphoma \| 4 C0020619 \| hypogonadism \| 3 C0393799 \| miller fisher syndrome \| 3 C0027765 \| neurological disorders \| 3 C0026769 \| multiple sclerosis \| 3 C0042075 \| urological disorders \| 3 C0393799 \| fisher syndrome \| 3 C0152025 \| polyneuropathy \| 3 C0149931 \| migraine \| 3 C0011847 \| diabetes \| 3 C0018784 \| sensorineural hearing loss \| 3 C0042769 \| virus infection \| 3 C0282193 \| iron overload \| 2 C0027765 \| neurologic disorder \| 2 C0019829 \| hodgkin lymphoma \| 2 C0086543 \| cataract \| 2 C0029132 \| optic neuropathy \| 2 C0018213 \| graves' disease \| 2 C0242379 \| lung cancer \| 2 C0036454 \| visual field defect \| 2 C0029089 \| ophthalmoplegia \| 2 C0270736 \| essential tremor \| 2 C0024408 \| joseph disease \| 2 C1527336 \| sjogren syndrome \| 2 C0035304 \| retinal degeneration \| 2 C0026884 \| mutism \| 2 C0027404 \| narcolepsy \| 2 C0036454 \| visual field defects \| 2 C0011991 \| diarrhea \| 2 C1834580 \| ramsay hunt syndrome \| 2 C0042075 \| urologic disease \| 2 C0033975 \| psychosis \| 2 C0037928 \| myelopathy \| 2 C0043121 \| wernicke's encephalopathy \| 2 C0002878 \| hemolytic anemia \| 2 C0024408 \| machado-joseph disease \| 2 C0024437 \| macular degeneration \| 2 C0027819 \| neuroblastoma \| 2 C0524851 \| neurodegenerative disease \| 1 C0018802 \| congestive heart failure \| 1 C0033845 \| pseudotumor cerebri \| 1 C0007760 \| cerebellar disorders \| 1 C0004114 \| astrocytoma \| 1 C0014804 \| erythromelalgia \| 1 C0393799 \| miller-fisher syndrome \| 1 C0030567 \| parkinson disease \| 1 C0027877 \| neuronal ceroid lipofuscinosis \| 1 C0027765 \| neurological disease \| 1 C0851578 \| sleep disorders \| 1 C0152134 \| internuclear ophthalmoplegia \| 1 C0027765 \| neurologic disorders \| 1 C0036349 \| paranoid schizophrenia \| 1 C0162531 \| hereditary coproporphyria \| 1 C0021053 \| immune disorders \| 1 C0007760 \| cerebellar dysfunction \| 1 C0040147 \| thyroiditis \| 1 C0001125 \| lactic acidosis \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0677607 \| hashimoto thyroiditis \| 1 C0039841 \| thiamine deficiency \| 1 C0162429 \| malnutrition \| 1 C0023418 \| leukaemia \| 1 C0268151 \| classical galactosaemia \| 1 C0014070 \| encephalomyelitis \| 1 C0026985 \| myelodysplasia \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0751778 \| progressive myoclonus epilepsy \| 1 C0079731 \| b-cell lymphoma \| 1 C0038868 \| progressive supranuclear palsy \| 1 C0019151 \| hepatic encephalopathy \| 1 C0220650 \| brain metastases \| 1 C0023264 \| leigh syndrome \| 1 C0007131 \| non-small cell lung cancer \| 1 C0023467 \| acute myeloid leukaemia \| 1 C0009946 \| conversion disorder \| 1 C0021053 \| immune disease \| 1 C0032326 \| pneumothorax \| 1 C0002766 \| analgesia \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0079744 \| diffuse large b-cell lymphoma \| 1 C0162674 \| progressive external ophthalmoplegia \| 1 C0036220 \| kaposi's sarcoma \| 1 C0011570 \| depression \| 1 C0154723 \| migraine with aura \| 1 C0751651 \| mitochondrial disease \| 1 C0751168 \| neuronopathic gaucher disease \| 1 C0752347 \| dementia with lewy bodies \| 1 C0751955 \| brain infarct \| 1 C0751651 \| mitochondrial disorder \| 1 C0338484 \| familial hemiplegic migraine \| 1 C0028866 \| oculomotor nerve palsy \| 1 C0018801 \| heart failure \| 1 C0007570 \| celiac disease \| 1 C0002896 \| sideroblastic anaemia \| 1 C0018784 \| sensorineural deafness \| 1 C0011303 \| demyelinating disease \| 1 C0085541 \| frontal lobe epilepsy \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0004135 \| ataxia telangiectasia \| 1 C0338488 \| alternating hemiplegia of childhood \| 1 C0221355 \| macrocephaly \| 1 C0011849 \| diabetes mellitus \| 1 C0086543 \| cataracts \| 1 C0001973 \| alcoholism \| 1 C0158981 \| neonatal diabetes mellitus \| 1 C0162534 \| prion diseases \| 1 C0002726 \| amyloidosis \| 1 C0041466 \| enteric fever \| 1 C0751651 \| mitochondrial disorders \| 1 C0338473 \| neuroaxonal dystrophy \| 1 C0025958 \| microcephaly \| 1 C0019937 \| horner syndrome \| 1 C0004153 \| atherosclerosis \| 1 C0751265 \| learning disability \| 1 C1527336 \| sjogren's syndrome \| 1 C1368910 \| mature teratoma \| 1 C0155550 \| neural deafness \| 1 C0002871 \| anaemia \| 1 C0014556 \| temporal lobe epilepsy \| 1 C0023470 \| myeloid leukaemia \| 1 C0029456 \| osteoporosis \| 1 C0339143 \| graves' ophthalmopathy \| 1 C0334634 \| mantle cell lymphoma \| 1 C0006142 \| breast cancer \| 1 C0024115 \| pulmonary disease \| 1 C0280131 \| ovarian teratoma \| 1 C0409974 \| lupus erythematosus \| 1 C0751781 \| dentatorubral-pallidoluysian atrophy \| 1 C0021053 \| immune disorder \| 1 C0042769 \| viral infections \| 1 C0017205 \| gaucher disease \| 1 C0042769 \| viral infection \| 1 C0037061 \| siderosis \| 1 C0024312 \| lymphocytopenia \| 1 C0020179 \| huntington's disease \| 1 C0038522 \| subacute sclerosing panencephalitis \| 1 C0016719 \| friedreich ataxia \| 1 C0023520 \| leukodystrophy \| 1 C0456909 \| blindness \| 1 C0005122 \| beriberi \| 1 C0011303 \| demyelinating diseases \| 1 C0027708 \| wilms tumor \| 1 C1848954 \| generalized dystonia \| 1 C0162534 \| prion disease \| 1 C0034372 \| quadriplegia \| 1 C0013338 \| growth hormone deficiency \| 1 C0040053 \| thrombosis \| 1 C0003537 \| aphasia \| 1 C0149925 \| small cell lung cancer \| 1 C1261473 \| sarcoma \| 1 C0040188 \| tic disorders \| 1 C0022797 \| ceroid lipofuscinosis \| 1 C0028866 \| third nerve palsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) SLC2A1 \| 6513 \| CTD_human ABCB7 \| 22 \| CTD_human CP \| 1356 \| CTD_human CACNB4 \| 785 \| CTD_human HCN1 \| 348980 \| CTD_human SCN8A \| 6334 \| CTD_human ATP7A \| 538 \| CTD_human GABRA4 \| 2557 \| CTD_human NPC1 \| 4864 \| CTD_human GABRA1 \| 2554 \| CTD_human CACNA1A \| 773 \| CTD_human CACNA2D2 \| 9254 \| CTD_human EGR3 \| 1960 \| CTD_human ARCN1 \| 372 \| CTD_human UROC1 \| 131669 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 773 \| CACNA1A \| infer 2332 \| FMR1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	515
Disease	ataxia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:219) HP:0002186 \| Apraxia \| 65 HP:0000657 \| Oculomotor apraxia \| 62 HP:0003477 \| Peripheral axonal neuropathy \| 25 HP:0100513 \| Vitamin E deficiency \| 22 HP:0001337 \| Tremor \| 16 HP:0001638 \| Cardiomyopathy \| 15 HP:0001272 \| Cerebellar atrophy \| 14 HP:0000639 \| Nystagmus \| 13 HP:0001249 \| Mental retardation \| 13 HP:0001332 \| Dystonia \| 12 HP:0001260 \| Dysarthric speech \| 10 HP:0001903 \| Anemia \| 10 HP:0002180 \| Neurodegeneration \| 9 HP:0001644 \| Congestive cardiomyopathy \| 9 HP:0000763 \| Sensory neuropathy \| 8 HP:0000726 \| Dementia \| 8 HP:0001336 \| Myoclonic jerks \| 8 HP:0009830 \| Peripheral neuritis \| 7 HP:0001268 \| Mental deterioration \| 7 HP:0001924 \| Hypersideremic anemia \| 7 HP:0000648 \| Optic-nerve degeneration \| 7 HP:0100543 \| Cognitive deficits \| 7 HP:0001257 \| Spasticity \| 6 HP:0001263 \| Developmental retardation \| 6 HP:0100022 \| Movement disorder \| 6 HP:0001317 \| Abnormality of the cerebellum \| 6 HP:0002080 \| Intention tremor \| 6 HP:0001250 \| Seizures \| 6 HP:0002317 \| Unsteady walk \| 6 HP:0003429 \| CNS hypomyelination \| 5 HP:0002383 \| Encephalitis \| 5 HP:0001298 \| Encephalopathy \| 5 HP:0000510 \| Retinitis pigmentosa \| 5 HP:0002385 \| Paraparesis \| 5 HP:0002066 \| Gait ataxia \| 4 HP:0002665 \| Lymphoma \| 4 HP:0002352 \| Leukoencephalopathy \| 4 HP:0010550 \| Paraplegia \| 4 HP:0001288 \| Gait disturbance \| 4 HP:0002721 \| Immunodeficiency \| 4 HP:0002013 \| Emesis \| 4 HP:0001251 \| Ataxia \| 4 HP:0002664 \| Neoplasia \| 4 HP:0001310 \| Dysmetria \| 4 HP:0002411 \| Myokymia \| 4 HP:0002136 \| Wide-based gait \| 4 HP:0000407 \| sensorineural hearing loss \| 4 HP:0003198 \| Myopathic changes \| 4 HP:0001300 \| Parkinsonism \| 3 HP:0002015 \| Swallowing difficulty \| 3 HP:0002076 \| Migraine headaches \| 3 HP:0002527 \| Falls \| 3 HP:0002070 \| Appendicular ataxia \| 3 HP:0001271 \| Polyneuropathy \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0002315 \| Headaches \| 3 HP:0002017 \| Nausea and vomiting \| 3 HP:0001324 \| Muscular weakness \| 3 HP:0000135 \| Hypogonadism \| 3 HP:0010864 \| Early and severe mental retardation \| 3 HP:0001258 \| Spastic paraplegia, lower limb \| 3 HP:0001270 \| Motor retardation \| 3 HP:0002018 \| Nausea \| 3 HP:0002196 \| Myelopathy \| 2 HP:0001945 \| Fever \| 2 HP:0003470 \| Inability to move \| 2 HP:0012735 \| Coughing \| 2 HP:0002313 \| Spastic paraparesis \| 2 HP:0002064 \| Spastic gait \| 2 HP:0001321 \| Small cerebellum \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0002072 \| Chorea \| 2 HP:0002503 \| Spinocerebellar tract degeneration \| 2 HP:0002300 \| Muteness \| 2 HP:0002346 \| Head tremor \| 2 HP:0003006 \| Neuroblastoma \| 2 HP:0002311 \| Incoordination \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0001138 \| Damaged optic nerve \| 2 HP:0002075 \| Dysdiadochokinesis \| 2 HP:0030186 \| Essential tremor \| 2 HP:0001269 \| Hemiparesis \| 2 HP:0001284 \| Areflexia \| 2 HP:0012189 \| Hodgkin disease \| 2 HP:0000546 \| Retinal degeneration \| 2 HP:0003487 \| Extensor plantar reflexes \| 2 HP:0000713 \| Agitation \| 2 HP:0002014 \| Diarrhea \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0002459 \| Dysautonomia \| 2 HP:0100699 \| Scarring \| 2 HP:0000514 \| Slow eye movements \| 2 HP:0000518 \| Cataract \| 2 HP:0007141 \| Mixed polyneuropathy \| 2 HP:0010543 \| Opsoclonus \| 2 HP:0000737 \| Irritability \| 2 HP:0001289 \| Confusion \| 2 HP:0000709 \| Psychosis \| 2 HP:0001123 \| Partial loss of field of vision \| 2 HP:0000815 \| Primary hypogonadism \| 2 HP:0000602 \| Ophthalmoplegia \| 2 HP:0003401 \| Paresthesia \| 2 HP:0000608 \| Macular degeneration \| 2 HP:0030050 \| Narcolepsy \| 2 HP:0000256 \| Macrocrania \| 1 HP:0002448 \| Progressive encephalopathy \| 1 HP:0100754 \| Mania \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0004395 \| Malnutrition \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0007325 \| Generalized dystonia \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0100242 \| Sarcoma \| 1 HP:0002354 \| Memory loss \| 1 HP:0030358 \| Non-small cell lung carcinoma \| 1 HP:0007178 \| Motor polyneuropathy \| 1 HP:0012246 \| Oculomotor nerve palsy \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0100033 \| Tic disorder \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0040148 \| Cortical myoclonus \| 1 HP:0012538 \| Gluten sensitivity \| 1 HP:0003394 \| Muscle cramps \| 1 HP:0100315 \| Lewy bodies \| 1 HP:0002108 \| Spontaneous pneumothorax \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0030833 \| Neck pain \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0000590 \| Progressive external ophthalmoplegia \| 1 HP:0002376 \| Loss of developmental milestones \| 1 HP:0012043 \| Pendular nystagmus \| 1 HP:0000575 \| Scotoma \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001649 \| Tachycardia \| 1 HP:0002608 \| Celiac disease \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0002457 \| Abnormal head movements \| 1 HP:0030731 \| Carcinoma \| 1 HP:0001609 \| Hoarseness \| 1 HP:0008568 \| Vestibular areflexia \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0000666 \| Horizontal nystagmus \| 1 HP:0000640 \| Gaze-evoked nystagmus \| 1 HP:0002667 \| Wilms tumor \| 1 HP:0007256 \| Abnormal pyramidal signs \| 1 HP:0011096 \| Demyelination \| 1 HP:0000618 \| Blindness \| 1 HP:0007263 \| Spinocerebellar atrophy \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0000338 \| Hypomimic face \| 1 HP:0100646 \| Thyroiditis \| 1 HP:0003690 \| Limb weakness \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0002071 \| Extrapyramidal dysfunction \| 1 HP:0001941 \| acidemia \| 1 HP:0002445 \| Paralysis of all four limbs \| 1 HP:0030773 \| Internuclear ophthalmoplegia \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0001265 \| Decreased tendon reflexes \| 1 HP:0100726 \| Kaposi's sarcoma \| 1 HP:0000234 \| Head abnormality \| 1 HP:0000556 \| Retinal dystrophy \| 1 HP:0002607 \| Anal incontinence \| 1 HP:0012049 \| Spasmodic dysphonia \| 1 HP:0000716 \| Depression \| 1 HP:0002277 \| Horner's syndrome \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0000252 \| Small head circumference \| 1 HP:0006808 \| Cerebral hypomyelination \| 1 HP:0011967 \| Hypocupremia \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0002403 \| Positive Romberg sign \| 1 HP:0002415 \| Degeneration of white matter of brain \| 1 HP:0012378 \| Fatigue \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0002917 \| Low blood magnesium levels \| 1 HP:0001285 \| Spastic tetraparesis \| 1 HP:0012377 \| Hemianopia \| 1 HP:0002167 \| Speech disorder \| 1 HP:0001254 \| Lethargy \| 1 HP:0002168 \| Explosive speech \| 1 HP:0002321 \| Vertigo \| 1 HP:0000544 \| CPEO \| 1 HP:0002067 \| Bradykinesia \| 1 HP:0002305 \| Involuntary writhing movements \| 1 HP:0002028 \| Chronic diarrhea \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002344 \| Progressive neurologic deterioration \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0002540 \| Inability to walk \| 1 HP:0012531 \| Pain \| 1 HP:0000496 \| Ocular movement abnormalities \| 1 HP:0003390 \| Sensory axonal neuropathy \| 1 HP:0010871 \| Ataxia, sensory \| 1 HP:0000572 \| Visual loss \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0012226 \| Ovarian teratoma \| 1 HP:0011499 \| Mydriasis \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002197 \| Generalized seizures \| 1 HP:0001618 \| Dysphonia \| 1 HP:0002073 \| Cerebellar ataxia, progressive \| 1 HP:0002381 \| Aphasia \| 1 HP:0000741 \| Apathy \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0001262 \| Somnolence \| 1 HP:0002107 \| Collapsed lung \| 1 HP:0002419 \| 'molar tooth sign' on brain imaging' \| 1 HP:0002480 \| Hepatic encephalopathy \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0001888 \| Lymphocytopenia \| 1 HP:0000505 \| Poor vision \| 1 HP:0000597 \| Ophthalmoparesis \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0002141 \| Imbalanced walk \| 1

Disease ID	515
Disease	ataxia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:21) C2700513 \| aplastic anemia C2220255 \| motor disturbances C1962958 \| hematoma C1855534 \| logic syndrome C0796110 \| w syndrome C0796095 \| c syndrome C0752347 \| dementia with lewy bodies C0751378 \| neurologic signs C0747102 \| ovarian failure C0743039 \| progressive dementia C0700109 \| rigidity C0520966 \| incoordination C0423479 \| ear symptoms C0239889 \| severe headache C0235169 \| excitability C0235031 \| neurologic symptoms C0085165 \| bovine leukosis C0037772 \| spastic paraplegia C0029089 \| ophthalmoplegia C0026650 \| movement disorders C0007760 \| cerebellar syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:12) C0743039 \| progressive dementia \| 4 C0037772 \| spastic paraplegia \| 3 C0026650 \| movement disorders \| 3 C0007760 \| cerebellar syndrome \| 2 C0029089 \| ophthalmoplegia \| 2 C0520966 \| incoordination \| 2 C1855534 \| logic syndrome \| 1 C2220255 \| motor disturbances \| 1 C0796095 \| c syndrome \| 1 C0235031 \| neurologic symptoms \| 1 C0751378 \| neurologic signs \| 1 C0752347 \| dementia with lewy bodies \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:14)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894107	20162437	2395	FXN	umls:C0004134	BeFree	We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G > T (p.G130V) missense mutation.	0.023615443	2010	FXN	9	69064942	G	C,T
rs113994097	20153822	5428	POLG	umls:C0004134	BeFree	In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland.	0.006524536	2010	POLG	15	89323426	C	G
rs11538758	19443103	5621	PRNP	umls:C0004134	BeFree	A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.	0.003800186	2009	PRNP	20	4699534	C	A,T
rs119456965	21873089	64374	SIL1	umls:C0004134	BeFree	In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome.	0.000814326	2012	SIL1	5	139050960	G	A
rs121908212	15210532	773	CACNA1A	umls:C0004134	BeFree	A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.	0.142493457	2004	CACNA1A	19	13303877	G	A
rs121908217	22527033	773	CACNA1A	umls:C0004134	BeFree	R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.	0.142493457	2012	CACNA1A	19	13308452	C	T
rs121918514	15841389	5582	PRKCG	umls:C0004134	BeFree	Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.	0.001628651	2005	PRKCG	19	53889705	G	A
rs150886026	15790557	54840	APTX	umls:C0004134	BeFree	The mild presentation allele, APTX-K197Q, associated with ataxia but not oculomotor apraxia, encodes a protein with a mild defect in stability and activity, while enzyme encoded by the atypical presentation allele, APTX-R199H, retained substantial function, consistent with altered and not loss of activity.	0.013320515	2005	APTX	9	32984805	C	T
rs2307441	20153822	5428	POLG	umls:C0004134	BeFree	In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland.	0.006524536	2010	POLG	15	89318595	T	C
rs28933385	20514992	3918	LAMC2	umls:C0004134	BeFree	A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.	0.001357209	2010	PRNP	20	4699818	G	A
rs28933385	20514992	5621	PRNP	umls:C0004134	BeFree	A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.	0.003800186	2010	PRNP	20	4699818	G	A
rs28933385	20514992	1437	CSF2	umls:C0004134	BeFree	A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.	0.001357209	2010	PRNP	20	4699818	G	A
rs387906881	24458321	9570	GOSR2	umls:C0004134	BeFree	Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.	0.000542884	2013	GOSR2	17	46935122	G	T
rs74315402	19675240	5621	PRNP	umls:C0004134	BeFree	Tg(A116V) mice express approximately six times the endogenous levels of PrP, develop progressive ataxia by approximately 140 d, and die by approximately 170 d. Compared with a mouse model of transmissible Creutzfeldt-Jakob disease (CJD), the ataxia of Tg(A116V) mice is more prominent, and the course of disease is more protracted, paralleling that observed in human disease.	0.003800186	2009	PRNP	20	4699570	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:65)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0004134	alprazolam	D000525	28981-97-7	ataxia	MESH:D001259	marker/mechanism	3358644
C0004134	aminoglutethimide	D000616	125-84-8	ataxia	MESH:D001259	marker/mechanism	6123383
C0004134	amphetamine	D000661	300-62-9	ataxia	MESH:D001259	marker/mechanism	23660488
C0004134	baclofen	D001418	1134-47-0	ataxia	MESH:D001259	marker/mechanism	16990508
C0004134	buspirone	D002065	36505-84-7	ataxia	MESH:D001259	therapeutic	11494197
C0004134	carbamazepine	D002220	298-46-4	ataxia	MESH:D001259	marker/mechanism	11197575
C0004134	carbamazepine	D002220	298-46-4	ataxia	MESH:D001259	therapeutic	8067500
C0004134	cefotaxime	D002439	63527-52-6	ataxia	MESH:D001259	marker/mechanism	2669668
C0004134	cetirizine	D017332	83881-51-0	ataxia	MESH:D001259	marker/mechanism	15850951
C0004134	chlordiazepoxide	D002707	58-25-3	ataxia	MESH:D001259	marker/mechanism	4836379
C0004134	chlorpromazine	D002746	50-53-3	ataxia	MESH:D001259	marker/mechanism	8083816
C0004134	cimetidine	D002927	51481-61-9	ataxia	MESH:D001259	marker/mechanism	4042860
C0004134	clobazam	C012255	22316-47-8	ataxia	MESH:D001259	marker/mechanism	2917546
C0004134	clonidine	D003000	4205-90-7	ataxia	MESH:D001259	marker/mechanism	11929375
C0004134	colchicine	D003078	64-86-8	ataxia	MESH:D001259	marker/mechanism	9460408
C0004134	cyclophosphamide	D003520	50-18-0	ataxia	MESH:D001259	marker/mechanism	9523741
C0004134	cyclosporine	D016572	59865-13-3	ataxia	MESH:D001259	marker/mechanism	18156240
C0004134	cyproheptadine	D003533	129-03-3	ataxia	MESH:D001259	marker/mechanism	642945
C0004134	cisplatin	D002945	15663-27-1	ataxia	MESH:D001259	marker/mechanism	17565539
C0004134	digoxin	D004077	20830-75-5	ataxia	MESH:D001259	marker/mechanism	5440585
C0004134	diltiazem	D004110	42399-41-7	ataxia	MESH:D001259	marker/mechanism	15206449
C0004134	felbamate	C047360	25451-15-4	ataxia	MESH:D001259	marker/mechanism	9848129
C0004134	floxuridine	D005467	50-91-9	ataxia	MESH:D001259	marker/mechanism	2943526
C0004134	fluorouracil	D005472	51-21-8	ataxia	MESH:D001259	marker/mechanism	11410695
C0004134	fluoxetine	D005473	54910-89-3	ataxia	MESH:D001259	marker/mechanism	1602320
C0004134	folic acid	D005492	59-30-3	ataxia	MESH:D001259	marker/mechanism	7442434
C0004134	leucovorin	D002955	1958/5/9	ataxia	MESH:D001259	therapeutic	6584197
C0004134	gabapentin	C040029	60142-96-3	ataxia	MESH:D001259	therapeutic	19747469
C0004134	gemcitabine	C056507	103882-84-4	ataxia	MESH:D001259	marker/mechanism	15370618
C0004134	haloperidol	D006220	52-86-8	ataxia	MESH:D001259	therapeutic	18239784
C0004134	ifosfamide	D007069	3778-73-2	ataxia	MESH:D001259	marker/mechanism	16174228
C0004134	isradipine	D017275	75695-93-1	ataxia	MESH:D001259	marker/mechanism	12196060
C0004134	ivermectin	D007559	70288-86-7	ataxia	MESH:D001259	marker/mechanism	22044330
C0004134	lamotrigine	C047781	84057-84-1	ataxia	MESH:D001259	marker/mechanism	19681008
C0004134	lidocaine	D008012	137-58-6	ataxia	MESH:D001259	marker/mechanism	16040365
C0004134	lorazepam	D008140	846-49-1	ataxia	MESH:D001259	marker/mechanism	1934919
C0004134	medroxyprogesterone acetate	D017258	71-58-9	ataxia	MESH:D001259	marker/mechanism	6123383
C0004134	meloxicam	C065757	71125-38-7	ataxia	MESH:D001259	marker/mechanism	20073572
C0004134	methadone	D008691	76-99-3	ataxia	MESH:D001259	marker/mechanism	19808992
C0004134	dextromethorphan	D003915	125-71-3	ataxia	MESH:D001259	marker/mechanism	10195488
C0004134	methotrexate	D008727	1959/5/2	ataxia	MESH:D001259	marker/mechanism	10327035
C0004134	methylphenidate	D008774	113-45-1	ataxia	MESH:D001259	marker/mechanism	1134893
C0004134	midodrine	D008879	42794-76-3	ataxia	MESH:D001259	marker/mechanism	17901021
C0004134	mitomycin	D016685	1950/7/7	ataxia	MESH:D001259	marker/mechanism	15793395
C0004134	nicotine	D009538	-	ataxia	MESH:D001259	marker/mechanism	19281835
C0004134	nimodipine	D009553	66085-59-4	ataxia	MESH:D001259	therapeutic	22974967
C0004134	paclitaxel	D017239	-	ataxia	MESH:D001259	marker/mechanism	10483822
C0004134	pentobarbital	D010424	76-74-4	ataxia	MESH:D001259	marker/mechanism	2556616
C0004134	phenytoin	D010672	57-41-0	ataxia	MESH:D001259	marker/mechanism	109744
C0004134	piroxicam	D010894	36322-90-4	ataxia	MESH:D001259	marker/mechanism	3929867
C0004134	propranolol	D011433	525-66-6	ataxia	MESH:D001259	marker/mechanism	4441828
C0004134	pyridoxine	D011736	-	ataxia	MESH:D001259	marker/mechanism	6457437
C0004134	ritonavir	D019438	-	ataxia	MESH:D001259	marker/mechanism	11197575
C0004134	sulfisoxazole	D013444	127-69-5	ataxia	MESH:D001259	marker/mechanism	6849452
C0004134	tacrolimus	D016559	109581-93-3	ataxia	MESH:D001259	marker/mechanism	12699871
C0004134	thiopental	D013874	76-75-5	ataxia	MESH:D001259	marker/mechanism	7900578
C0004134	ticlopidine	D013988	55142-85-3	ataxia	MESH:D001259	marker/mechanism	9658485
C0004134	tretinoin	D014212	302-79-4	ataxia	MESH:D001259	marker/mechanism	10609785
C0004134	valproic acid	D014635	99-66-1	ataxia	MESH:D001259	marker/mechanism	12838456
C0004134	valproic acid	D014635	99-66-1	ataxia	MESH:D001259	therapeutic	17412645
C0004134	vincristine	D014750	-	ataxia	MESH:D001259	marker/mechanism	657152
C0004134	vitamin e	D014810	1406-18-4	ataxia	MESH:D001259	marker/mechanism	3681102
C0004134	vitamin e	D014810	1406-18-4	ataxia	MESH:D001259	therapeutic	10453775
C0004134	vorinostat	C111237	-	ataxia	MESH:D001259	marker/mechanism	18854394
C0004134	zolpidem	C049109	82626-48-0	ataxia	MESH:D001259	marker/mechanism	12404077

FDA approved drug and dosage information(Total Drugs:22)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D001259	neurontin	gabapentin	100MG	CAPSULE;ORAL	Prescription	AB	Yes	No
MESH:D001259	neurontin	gabapentin	600MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D001259	neurontin	gabapentin	250MG/5ML	SOLUTION;ORAL	Prescription	AA	Yes	Yes
MESH:D001259	neurontin	gabapentin	0	SOLUTION; ORAL	Prescription	None	No	No
MESH:D001259	neurontin	gabapentin	600MG	TABLET; ORAL	Prescription	None	No	No
MESH:D001259	neurontin	gabapentin	800MG	CAPSULE; ORAL	Prescription	None	No	No
MESH:D001259	neurontin	gabapentin	250MG/5ML	SOLUTION; ORAL	Prescription	None	No	No
MESH:D001259	lamictal	lamotrigine	100MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D001259	lamictal	lamotrigine	100MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D001259	lamictal	lamotrigine	100MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D001259	lamictal xr	lamotrigine	25MG	TABLET, EXTENDED RELEASE;ORAL	Prescription	AB	Yes	No
MESH:D001259	lamictal xr	lamotrigine	25MG	TABLET, EXTENDED RELEASE;ORAL	Prescription	AB	Yes	No
MESH:D001259	lamictal xr	lamotrigine	25MG	TABLET, EXTENDED RELEASE;ORAL	Prescription	AB	Yes	No
MESH:D001259	mobic	meloxicam	7.5MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D001259	mobic	meloxicam	7.5MG/5ML	SUSPENSION;ORAL	Prescription	None	Yes	Yes
MESH:D001259	norvir	ritonavir	80MG/ML	SOLUTION;ORAL	Prescription	None	Yes	Yes
MESH:D001259	norvir	ritonavir	100MG	CAPSULE;ORAL	Discontinued	None	No	No
MESH:D001259	norvir	ritonavir	100MG	CAPSULE;ORAL	Prescription	None	Yes	Yes
MESH:D001259	norvir	ritonavir	100MG	TABLET;ORAL	Prescription	AB	Yes	Yes
MESH:D001259	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D001259	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D001259	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No

FDA labeling changes(Total Drugs:22)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D001259	01/17/2003	lamictal	lamotrigine	Adjunctive therapy for partial seizures	Extended indication from adults to pediatric patients e 2 years Patients aged 2 - 18 years had clearance influenced predominantly by total body weight and concurrent antiepileptic drug (AED) therapy. The oral clearance was higher, on a body weight basis, in pediatric patients than in adults Because of increased clearance in pediatrics, maintenance doses in patients weighing < 30 kg may need an increase of as much as 50% based upon clinical response Evidence shows that the inclusion of VPA in a multi-drug regimen increases the risk of serious, potentially life-threatening rash in pediatric patients Approximately 11.5% of the 1,081 pediatric patients who received the drug as adjunctive therapy in clinical trials discontinued treatment because of an AE	Labeling	B	-	-	-	GlaxoSmithKline	02/14/2007	FALSE'
MESH:D001259	8/5/2009	lamictal	lamotrigine	Adjunctive treatment for partial seizures in pediatric patients 1 24 months	Safety and effectiveness as adjunctive treatment for partial seizures were not demonstrated in a small randomized, double-blind, placebo-controlled, withdrawal study in pediatric patients 1 - 24 months Immediate release tablets were associated with an increased risk for infectious adverse reactions including bronchiolitis, bronchitis, ear infection, eye infection, otitis externa, pharyngitis, urinary tract infection, and viral infection (Lamictal 37%, Placebo 5%), and respiratory adverse reactions including nasal congestion, cough, and apnea. (Lamictal 26%, Placebo 5%)	Labeling	B	-	-	-	GlaxoSmithKline	02/14/2007	FALSE'
MESH:D001259	05/18/2015	lamictal	lamotrigine	Maintenance treatment of bipolar disorder	Safety and efficacy for the maintenance treatment of bipolar disorder were not established in a double-blind, placebo-controlled trial that evaluated 301 pediatric patients aged 10 to 17 Information on clinical trial and adverse reactions Postmarketing study	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE
MESH:D001259	05/29/2009	lamictal xr	lamotrigine	Adjunctive therapy for partial onset seizures in patients e13 years of age	Extended release tablets are indicated as adjunctive therapy for partial onset seizures with or without secondary generalization in patients e13 years Safety and effectiveness of extended release tablets for any use in patients below the age of 13 have not been established Information on adverse event profile, and clinical studies New dosage form	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE'
MESH:D001259	01/29/2010	lamictal xr	lamotrigine	Adjunctive therapy for Primary Generalized Tonic-Clonic seizures	New indication for adjunctive therapy for primary generalized tonic-clonic seizures in patients e 13 years of age Safety and effectiveness for any use in patients < 13 years have not been established Information on dosing, adverse reactions, and clinical studies	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE'
MESH:D001259	04/25/2011	lamictal xr	lamotrigine	Monotherapy in patients 13 years of age and older with partial seizures who are receiving therapy with a single antiepileptic drug (AED)	Approved for conversion to monotherapy in patients e13 years of age with partial seizures receiving treatment with a single antiepileptic drug (AED).Safety and effectiveness have not been established (1) as initial monotherapy or (2) for simultaneous conversion to monotherapy from two or more concomitant AEDsInformation on conversion to monotherapy, adverse reactions, clinical trialNew indication	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE'
MESH:D001259	11/8/2005	mobic	meloxicam	Relief of signs and symptoms of pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis	Safety and efficacy established in patients 2 years of age and older Clinical studies evaluated doses ranging from 0.125 mg/kg/day to 0.375 mg/kg/day. There was no additional benefit demonstrated by doses above 0.125 mg/kg/day in the clinical trials. The lowest effective dose should be used Adverse events in children were similar to those in adults including skin reactions and gastrointestinal bleed risk Information on dose, PK parameters, AE profile and clinical studies	Labeling	-	-	B, P	-	Boehringer Ingelheim	04/15/2005	FALSE'
MESH:D001259	11/8/2005	mobic	meloxicam	Relief of signs and symptoms of pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis	Safety and efficacy established in patients 2 years of age and older Clinical studies evaluated doses ranging from 0.125 mg/kg/day to 0.375 mg/kg/day. There was no additional benefit demonstrated by doses above 0.125 mg/kg/day in the clinical trials. The lowest effective dose should be used Adverse events in children were similar to those in adults including skin reactions and gastrointestinal bleed risk Information on dose, PK parameters, AE profile and clinical studies	Labeling	-	-	B, P	-	Boehringer Ingelheim	04/15/2005	FALSE'
MESH:D001259	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D001259	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D001259	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D001259	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D001259	6/4/2006	daytrana	methylphenidate	ADHD	Summary is pending	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D001259	12/14/2009	daytrana	methylphenidate	Postmarketing safety study	Information added to Warnings and Adverse Reactions on skin reactions observed in a postmarketing dermal study in pediatric patients	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D001259	06/29/2010	daytrana	methylphenidate	ADHD	Expanded pediatric indication to include adolescent patients ages13-17 years The most commonly reported adverse reactions in a trial in patients 13-17 years included appetite decreased, nausea, insomnia, weight decreased, dizziness, abdominal pain, and anorexia. The majority of patients had erythema at the application site Information on PK parameters, Adverse Event profile and clinical studies	Labeling	-	P	-	-	Shire	-	FALSE'