MCID: ATS307
MIFTS: 31

Autosomal Recessive Cerebellar Ataxia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Cerebellar Ataxia:

Name: Autosomal Recessive Cerebellar Ataxia 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050950

Summaries for Autosomal Recessive Cerebellar Ataxia

Disease Ontology : 12 A hereditary ataxia that has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia is related to spinocerebellar ataxia, autosomal recessive 10 and spinocerebellar ataxia, autosomal recessive 21. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10). Affiliated tissues include eye, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Autosomal Recessive Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Syne1-Related Autosomal Recessive Cerebellar Ataxia
Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Diseases related to Autosomal Recessive Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 10 32.2 ANO10 SYNE1
2 spinocerebellar ataxia, autosomal recessive 21 31.6 GBA2 SPG7 UBA5
3 aceruloplasminemia 30.1 ANO10 ATM COQ8A FXN GBA2 SETX
4 syne1-related autosomal recessive cerebellar ataxia 12.4
5 autosomal recessive cerebellar ataxia with late-onset spasticity 12.3
6 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.2
7 spinocerebellar ataxia, autosomal recessive 8 12.2
8 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.9
9 coenzyme q10 deficiency, primary, 4 11.5
10 spinocerebellar ataxia, autosomal recessive 14 11.5
11 spinocerebellar ataxia, autosomal recessive 3 11.4
12 spinocerebellar ataxia, autosomal recessive 4 11.2
13 spinocerebellar ataxia, autosomal recessive 11 11.2
14 spinocerebellar ataxia, autosomal recessive 12 11.2
15 spinocerebellar ataxia, autosomal recessive 15 11.2
16 spinocerebellar ataxia, autosomal recessive 16 11.2
17 spinocerebellar ataxia, autosomal recessive 17 11.2
18 spinocerebellar ataxia, autosomal recessive 23 11.2
19 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.2
20 marinesco-sjogren syndrome 11.0
21 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11.0
22 cerebellar ataxia, mental retardation and dysequlibrium syndrome 11.0
23 harding ataxia 11.0
24 apraxia 10.3
25 ataxia neuropathy spectrum 10.3 MRPL43 TWNK
26 perrault syndrome 5 10.2 MRPL43 TWNK
27 mitochondrial dna depletion syndrome 7 10.2 MRPL43 TWNK
28 spinocerebellar ataxia 20 10.2 SNX14 SPTBN2
29 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.2 MRPL43 TWNK
30 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.2 SETX SPTBN2
31 spinocerebellar ataxia, autosomal recessive 1 10.2 AFP SETX
32 ataxia and polyneuropathy, adult-onset 10.2
33 epilepsy 10.2
34 spinocerebellar ataxia 15 10.1 SPTBN2 STUB1
35 proximal spinal muscular atrophy 10.1 SETX SPG7
36 spinocerebellar ataxia 8 10.1 SYNE1 TWNK
37 spastic paraplegia 49, autosomal recessive 10.1 SNX14 SPG7
38 multiple sclerosis 10.0
39 ataxia-telangiectasia 10.0
40 cerebellar hypoplasia 10.0
41 alacrima, achalasia, and mental retardation syndrome 10.0
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
43 spastic ataxia 10.0
44 paraplegia 10.0
45 fundus dystrophy 10.0
46 neuropathy 10.0
47 supranuclear ocular palsy 10.0
48 spasticity 10.0
49 cerebral palsy, ataxic, autosomal recessive 10.0 SPTBN2 VLDLR
50 spastic paraplegia 73, autosomal dominant 10.0 GBA2 SPG7 UBA5

Graphical network of the top 20 diseases related to Autosomal Recessive Cerebellar Ataxia:



Diseases related to Autosomal Recessive Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Recessive Cerebellar Ataxia

GenomeRNAi Phenotypes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.37 VLDLR
2 Decreased viability GR00221-A-1 10.37 COQ8A FXN
3 Decreased viability GR00221-A-3 10.37 ATM COQ8A
4 Decreased viability GR00221-A-4 10.37 ATM
5 Decreased viability GR00240-S-1 10.37 GBA2
6 Decreased viability GR00301-A 10.37 FXN
7 Decreased viability GR00381-A-1 10.37 ANO10 COQ8A GBA2 STUB1 UBA5
8 Decreased viability GR00402-S-2 10.37 AFP ANO10 ATM COQ8A CWF19L1 FXN
9 Increased vaccinia virus (VACV) infection GR00249-S 9.93 AFP ANO10 ATM COQ8A CWF19L1 FXN
10 no effect GR00402-S-1 9.62 AFP ANO10 ATM COQ8A CWF19L1 FXN

MGI Mouse Phenotypes related to Autosomal Recessive Cerebellar Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 AFP ANO10 ATM FXN GBA2 SETX

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Active, not recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Recessive Cerebellar Ataxia

Genetic Tests for Autosomal Recessive Cerebellar Ataxia

Anatomical Context for Autosomal Recessive Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Recessive Cerebellar Ataxia:

41
Eye

Publications for Autosomal Recessive Cerebellar Ataxia

Articles related to Autosomal Recessive Cerebellar Ataxia:

(show all 39)
# Title Authors Year
1
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. ( 30022445 )
2018
2
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. ( 30275942 )
2018
3
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. ( 28558379 )
2017
4
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
5
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub>Deficiency in a Female Sib-Pair. ( 29159460 )
2017
6
A novel frameshift mutation of<i>SYNE1</i>in a Japanese family with autosomal recessive cerebellar ataxia type 8. ( 29081981 )
2017
7
Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. ( 27045840 )
2016
8
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. ( 26872069 )
2016
9
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657514 )
2016
10
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657516 )
2016
11
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. ( 26197978 )
2016
12
A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I. ( 25843669 )
2015
13
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply. ( 25664551 )
2015
14
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene. ( 25664549 )
2015
15
Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutations: Delineation and Genotype-Phenotype Correlation Study. ( 25089919 )
2014
16
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. ( 25122145 )
2014
17
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. ( 25439728 )
2014
18
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. ( 24719489 )
2014
19
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia. ( 24312598 )
2013
20
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. ( 23332917 )
2013
21
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families. ( 24102492 )
2013
22
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. ( 23857099 )
2013
23
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. ( 24218524 )
2013
24
SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia. ( 23959263 )
2013
25
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. ( 24369382 )
2013
26
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. ( 22008874 )
2012
27
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. ( 21576695 )
2011
28
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. ( 21392394 )
2011
29
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. ( 21092923 )
2010
30
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ( 19332571 )
2009
31
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. ( 18405395 )
2008
32
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. ( 17503513 )
2007
33
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. ( 17159980 )
2007
34
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. ( 15642921 )
2005
35
A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11. ( 15996219 )
2005
36
Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. ( 11860984 )
2002
37
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. ( 11391656 )
2001
38
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. ( 10751248 )
2000
39
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. ( 11022012 )
2000

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6 (show top 50) (show all 422)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ8A NM_020247.4(COQ8A): c.993C> T (p.Phe331=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303129 GRCh37 Chromosome 1, 227170648: 227170648
2 COQ8A NM_020247.4(COQ8A): c.993C> T (p.Phe331=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303129 GRCh38 Chromosome 1, 226982947: 226982947
3 COQ8A NM_020247.4(COQ8A): c.117G> A (p.Ala39=) single nucleotide variant Benign rs11549708 GRCh37 Chromosome 1, 227149203: 227149203
4 COQ8A NM_020247.4(COQ8A): c.117G> A (p.Ala39=) single nucleotide variant Benign rs11549708 GRCh38 Chromosome 1, 226961502: 226961502
5 COQ8A NM_020247.4(COQ8A): c.1440C> T (p.Phe480=) single nucleotide variant Benign rs12593 GRCh37 Chromosome 1, 227172290: 227172290
6 COQ8A NM_020247.4(COQ8A): c.1440C> T (p.Phe480=) single nucleotide variant Benign rs12593 GRCh38 Chromosome 1, 226984589: 226984589
7 COQ8A NM_020247.4(COQ8A): c.1716T> C (p.Ser572=) single nucleotide variant Benign rs3738725 GRCh37 Chromosome 1, 227174210: 227174210
8 COQ8A NM_020247.4(COQ8A): c.1716T> C (p.Ser572=) single nucleotide variant Benign rs3738725 GRCh38 Chromosome 1, 226986509: 226986509
9 ANO10 NM_018075.4(ANO10): c.1066A> G (p.Ser356Gly) single nucleotide variant Benign/Likely benign rs56389778 GRCh37 Chromosome 3, 43618280: 43618280
10 ANO10 NM_018075.4(ANO10): c.1066A> G (p.Ser356Gly) single nucleotide variant Benign/Likely benign rs56389778 GRCh38 Chromosome 3, 43576788: 43576788
11 ANO10 NM_018075.4(ANO10): c.1385G> A (p.Arg462Gln) single nucleotide variant Benign rs3772165 GRCh37 Chromosome 3, 43602803: 43602803
12 ANO10 NM_018075.4(ANO10): c.1385G> A (p.Arg462Gln) single nucleotide variant Benign rs3772165 GRCh38 Chromosome 3, 43561311: 43561311
13 ANO10 NM_018075.4(ANO10): c.1682C> T (p.Thr561Met) single nucleotide variant Benign/Likely benign rs17409162 GRCh37 Chromosome 3, 43591327: 43591327
14 ANO10 NM_018075.4(ANO10): c.1682C> T (p.Thr561Met) single nucleotide variant Benign/Likely benign rs17409162 GRCh38 Chromosome 3, 43549835: 43549835
15 COQ8A NM_020247.4(COQ8A): c.63G> A (p.Ala21=) single nucleotide variant Conflicting interpretations of pathogenicity rs11549709 GRCh37 Chromosome 1, 227149149: 227149149
16 COQ8A NM_020247.4(COQ8A): c.63G> A (p.Ala21=) single nucleotide variant Conflicting interpretations of pathogenicity rs11549709 GRCh38 Chromosome 1, 226961448: 226961448
17 COQ8A NM_020247.4(COQ8A): c.255T> G (p.His85Gln) single nucleotide variant Benign/Likely benign rs2297411 GRCh37 Chromosome 1, 227152778: 227152778
18 COQ8A NM_020247.4(COQ8A): c.255T> G (p.His85Gln) single nucleotide variant Benign/Likely benign rs2297411 GRCh38 Chromosome 1, 226965077: 226965077
19 COQ8A NM_020247.4(COQ8A): c.258A> C (p.Ala86=) single nucleotide variant Conflicting interpretations of pathogenicity rs137872711 GRCh37 Chromosome 1, 227152781: 227152781
20 COQ8A NM_020247.4(COQ8A): c.258A> C (p.Ala86=) single nucleotide variant Conflicting interpretations of pathogenicity rs137872711 GRCh38 Chromosome 1, 226965080: 226965080
21 COQ8A NM_020247.4(COQ8A): c.291C> T (p.Ser97=) single nucleotide variant Conflicting interpretations of pathogenicity rs111529228 GRCh37 Chromosome 1, 227152814: 227152814
22 COQ8A NM_020247.4(COQ8A): c.291C> T (p.Ser97=) single nucleotide variant Conflicting interpretations of pathogenicity rs111529228 GRCh38 Chromosome 1, 226965113: 226965113
23 COQ8A NM_020247.4(COQ8A): c.1053C> T (p.Gly351=) single nucleotide variant Benign/Likely benign rs55958233 GRCh37 Chromosome 1, 227170708: 227170708
24 COQ8A NM_020247.4(COQ8A): c.1053C> T (p.Gly351=) single nucleotide variant Benign/Likely benign rs55958233 GRCh38 Chromosome 1, 226983007: 226983007
25 COQ8A NM_020247.4(COQ8A): c.-10+8T> C single nucleotide variant Benign/Likely benign rs145688619 GRCh37 Chromosome 1, 227128108: 227128108
26 COQ8A NM_020247.4(COQ8A): c.-10+8T> C single nucleotide variant Benign/Likely benign rs145688619 GRCh38 Chromosome 1, 226940407: 226940407
27 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh37 Chromosome 10, 102748606: 102748606
28 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh38 Chromosome 10, 100988849: 100988849
29 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh37 Chromosome 10, 102750621: 102750621
30 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh38 Chromosome 10, 100990864: 100990864
31 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh37 Chromosome 10, 102750623: 102750623
32 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh38 Chromosome 10, 100990866: 100990866
33 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh37 Chromosome 10, 102747363: 102747363
34 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh38 Chromosome 10, 100987606: 100987606
35 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh37 Chromosome 10, 102752933: 102752933
36 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh38 Chromosome 10, 100993176: 100993176
37 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
38 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
39 COQ8A NM_020247.4(COQ8A): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs76249490 GRCh37 Chromosome 1, 227152761: 227152761
40 COQ8A NM_020247.4(COQ8A): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs76249490 GRCh38 Chromosome 1, 226965060: 226965060
41 COQ8A NM_020247.4(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 GRCh37 Chromosome 1, 227165191: 227165191
42 COQ8A NM_020247.4(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 GRCh38 Chromosome 1, 226977490: 226977490
43 COQ8A NM_020247.4(COQ8A): c.1914C> T (p.Ser638=) single nucleotide variant Benign/Likely benign rs56043893 GRCh37 Chromosome 1, 227174408: 227174408
44 COQ8A NM_020247.4(COQ8A): c.1914C> T (p.Ser638=) single nucleotide variant Benign/Likely benign rs56043893 GRCh38 Chromosome 1, 226986707: 226986707
45 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh38 Chromosome 10, 100990973: 100990973
46 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh37 Chromosome 10, 102750730: 102750730
47 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh38 Chromosome 10, 100993430: 100993430
48 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh37 Chromosome 10, 102753187: 102753187
49 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh38 Chromosome 10, 100993500: 100993500
50 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh37 Chromosome 10, 102753257: 102753257

Expression for Autosomal Recessive Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Cerebellar Ataxia.

Pathways for Autosomal Recessive Cerebellar Ataxia

GO Terms for Autosomal Recessive Cerebellar Ataxia

Biological processes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.67 ATM SETX STUB1 TDP1
2 mitochondrion organization GO:0007005 9.33 FXN SPG7 TWNK
3 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 PMPCA SPG7
4 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.26 UBA5 UFM1
5 protein K69-linked ufmylation GO:1990592 8.96 UBA5 UFM1
6 protein ufmylation GO:0071569 8.62 UBA5 UFM1

Molecular functions related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA helicase activity GO:0003678 8.62 SETX TWNK

Sources for Autosomal Recessive Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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