SCAR10
MCID: SPN214
MIFTS: 42

Spinocerebellar Ataxia, Autosomal Recessive 10 (SCAR10)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 10

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 10:

Name: Spinocerebellar Ataxia, Autosomal Recessive 10 56 29 13 6 71
Scar10 56 12 58 73
Autosomal Recessive Spinocerebellar Ataxia 10 12 15
Ataxia, Spinocerebellar, Autosomal Recessive, Type 10 39
Autosomal Recessive Spinocerebellar Ataxia Type 10 58
Adult-Onset Autosomal Recessive Cerebellar Ataxia 58
Spinocerebellar Ataxia, Autosomal Recessive, 10 73

Characteristics:

Orphanet epidemiological data:

58
adult-onset autosomal recessive cerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in teens or young adulthood (range 13 to 45 years)
some patients may benefit from coenzyme q10 treatment


HPO:

31
spinocerebellar ataxia, autosomal recessive 10:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 10

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia, autosomal recessive, 10: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 10, also known as scar10, is related to ataxia and polyneuropathy, adult-onset and spinocerebellar ataxia 10, and has symptoms including gait ataxia, muscular fasciculation and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 10 is ANO10 (Anoctamin 10), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are progressive cerebellar ataxia and abnormal enzyme/coenzyme activity

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has material basis in mutation in the ANO10 gene.

OMIM : 56 Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014). (613728)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 10

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.2
2 spinocerebellar ataxia 10 10.2
3 autosomal dominant cerebellar ataxia 10.2
4 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 ANO5 ALG14
5 myopathy, myofibrillar, 8 9.8 MYO9A ALG14
6 myopathy, myofibrillar, 7 9.7 MYO9A ALG14
7 myopathy, centronuclear, 5 9.7 MYO9A ALG14
8 myopathy, centronuclear, 4 9.7 MYO9A ALG14
9 myasthenic syndrome, congenital, 14 9.6 MYO9A ALG14
10 fructose intolerance, hereditary 9.5 ANO5 ALG14
11 miyoshi muscular dystrophy 3 9.0 ANO7 ANO6 ANO5 ANO10
12 gnathodiaphyseal dysplasia 8.8 ANO7 ANO6 ANO5 ANO3 ANO10
13 scott syndrome 8.8 ANO7 ANO6 ANO5 ANO3 ANO10

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 10:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 10

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 10

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 10:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
3 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
4 slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0001350
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
8 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
9 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
10 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
11 macular degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0000608
12 generalized-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002197
13 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
14 ankle clonus 58 31 frequent (33%) Frequent (79-30%) HP:0011448
15 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
16 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
17 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
18 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
19 dysmetric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0000641
20 leg muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0008969
21 downbeat nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0010545
22 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
23 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
24 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
25 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
26 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
27 tortuosity of conjunctival vessels 58 31 occasional (7.5%) Occasional (29-5%) HP:0000503
28 intellectual disability 31 occasional (7.5%) HP:0001249
29 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
30 nystagmus 31 HP:0000639
31 gait ataxia 31 HP:0002066
32 hypermetric saccades 31 HP:0007338

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
hypermetric saccades
saccadic pursuit
tortuous conjunctival vessels (1 family)

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
fasciculations
gait ataxia
more
Muscle Soft Tissue:
mild atrophy of the proximal lower limbs
decreased coenzyme q10 levels in muscle

Clinical features from OMIM:

613728

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 10:


gait ataxia, muscular fasciculation, ataxia, truncal

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 10

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 10

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 10

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 10:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 10 29 ANO10

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 10

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 10:

40
Brain, Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 10

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 10:

# Title Authors PMID Year
1
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. 56 6 61
25182700 2014
2
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. 56 6
21092923 2010
3
Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene. 61
31423897 2019
4
The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K. 61
31477691 2019
5
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019

Variations for Spinocerebellar Ataxia, Autosomal Recessive 10

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 10:

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO10 NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)SNV Pathogenic 807373 3:43618321-43618321 3:43576829-43576829
2 ANO10 NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)SNV Pathogenic 434213 rs1210764379 3:43641907-43641907 3:43600415-43600415
3 ANO10 NM_018075.5(ANO10):c.96del (p.Glu33fs)deletion Pathogenic 434215 rs758937084 3:43647249-43647249 3:43605757-43605757
4 ANO10 NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg)SNV Pathogenic 31057 rs387907089 3:43596909-43596909 3:43555417-43555417
5 ANO10 NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)deletion Pathogenic 31058 rs794726680 3:43618195-43618196 3:43576703-43576704
6 ANO10 NM_018075.5(ANO10):c.1476+1G>TSNV Pathogenic 31059 rs761213683 3:43602711-43602711 3:43561219-43561219
7 ANO10 NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)deletion Pathogenic 31060 rs794726681 3:43596834-43596834 3:43555342-43555342
8 ANO10 NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter)SNV Pathogenic 162018 rs144272231 3:43618202-43618202 3:43576710-43576710
9 ANO10 NM_018075.5(ANO10):c.1669-2A>TSNV Pathogenic 210185 rs797045240 3:43591342-43591342 3:43549850-43549850
10 ANO10 NM_018075.5(ANO10):c.337+1G>ASNV Pathogenic 210186 rs765592794 3:43641875-43641875 3:43600383-43600383
11 ANO10 NM_018075.5(ANO10):c.132dup (p.Asp45fs)duplication Pathogenic 162016 rs540331226 3:43647212-43647213 3:43605720-43605721
12 ANO10 NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)SNV Likely pathogenic 666355 3:43596901-43596901 3:43555409-43555409
13 ANO10 NM_018075.5(ANO10):c.799A>G (p.Asn267Asp)SNV Conflicting interpretations of pathogenicity 724877 3:43618547-43618547 3:43577055-43577055
14 ANO10 NM_018075.5(ANO10):c.1954A>G (p.Met652Val)SNV Conflicting interpretations of pathogenicity 741951 3:43408427-43408427 3:43366935-43366935
15 ANO10 NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)SNV Conflicting interpretations of pathogenicity 162017 rs138000380 3:43474174-43474174 3:43432682-43432682
16 ANO10 NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln)SNV Conflicting interpretations of pathogenicity 345187 rs61732728 3:43618213-43618213 3:43576721-43576721
17 ANO10 NM_018075.5(ANO10):c.1683G>C (p.Thr561=)SNV Conflicting interpretations of pathogenicity 345177 rs141040660 3:43591326-43591326 3:43549834-43549834
18 ANO10 NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)SNV Conflicting interpretations of pathogenicity 345189 rs146569520 3:43618366-43618366 3:43576874-43576874
19 ANO10 NM_018075.5(ANO10):c.1628G>A (p.Arg543His)SNV Uncertain significance 345179 rs372086237 3:43596810-43596810 3:43555318-43555318
20 ANO10 NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)SNV Uncertain significance 345181 rs150026260 3:43596879-43596879 3:43555387-43555387
21 ANO10 NM_018075.5(ANO10):c.*91G>ASNV Uncertain significance 345172 rs776954907 3:43408307-43408307 3:43366815-43366815
22 ANO10 NM_018075.5(ANO10):c.1864A>G (p.Met622Val)SNV Uncertain significance 345175 rs141806947 3:43474153-43474153 3:43432661-43432661
23 ANO10 NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg)SNV Uncertain significance 345176 rs761659935 3:43474200-43474200 3:43432708-43432708
24 ANO10 NM_018075.5(ANO10):c.1218+4A>TSNV Uncertain significance 345186 rs886058479 3:43616297-43616297 3:43574805-43574805
25 ANO10 NM_018075.5(ANO10):c.676G>A (p.Ala226Thr)SNV Uncertain significance 345190 rs188443010 3:43618670-43618670 3:43577178-43577178
26 ANO10 NM_018075.5(ANO10):c.-74C>TSNV Uncertain significance 345200 rs886058482 3:43663463-43663463 3:43621971-43621971
27 ANO10 NM_018075.5(ANO10):c.*452A>GSNV Uncertain significance 345162 rs886058476 3:43407946-43407946 3:43366454-43366454
28 ANO10 NM_018075.5(ANO10):c.338-11T>CSNV Uncertain significance 345195 rs774494441 3:43640169-43640169 3:43598677-43598677
29 ANO10 NM_018075.5(ANO10):c.*447G>ASNV Uncertain significance 345163 rs112787589 3:43407951-43407951 3:43366459-43366459
30 ANO10 NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu)SNV Uncertain significance 345180 rs886058477 3:43596843-43596843 3:43555351-43555351
31 ANO10 NM_018075.5(ANO10):c.1339A>T (p.Met447Leu)SNV Uncertain significance 345184 rs745940196 3:43602849-43602849 3:43561357-43561357
32 ANO10 NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn)SNV Uncertain significance 345188 rs187425614 3:43618334-43618334 3:43576842-43576842
33 ANO10 NM_018075.5(ANO10):c.-67C>TSNV Uncertain significance 345199 rs563565187 3:43663456-43663456 3:43621964-43621964
34 ANO10 NM_018075.5(ANO10):c.-102C>ASNV Uncertain significance 345204 rs886058484 3:43663491-43663491 3:43621999-43621999
35 ANO10 NM_018075.5(ANO10):c.*438A>TSNV Uncertain significance 345165 rs376644560 3:43407960-43407960 3:43366468-43366468
36 ANO10 NM_018075.5(ANO10):c.*372G>TSNV Uncertain significance 345167 rs145489333 3:43408026-43408026 3:43366534-43366534
37 ANO10 NM_018075.5(ANO10):c.*368C>TSNV Uncertain significance 345168 rs114561351 3:43408030-43408030 3:43366538-43366538
38 ANO10 NM_018075.5(ANO10):c.*179C>TSNV Uncertain significance 345171 rs111871863 3:43408219-43408219 3:43366727-43366727
39 ANO10 NM_018075.5(ANO10):c.*82G>ASNV Uncertain significance 345173 rs560234921 3:43408316-43408316 3:43366824-43366824
40 ANO10 NM_018075.5(ANO10):c.1416A>C (p.Ala472=)SNV Uncertain significance 345183 rs886058478 3:43602772-43602772 3:43561280-43561280
41 ANO10 NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys)SNV Uncertain significance 345191 rs886058480 3:43618714-43618714 3:43577222-43577222
42 ANO10 NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)SNV Uncertain significance 446836 rs373386030 3:43621925-43621925 3:43580433-43580433
43 ANO10 NM_018075.5(ANO10):c.236T>G (p.Met79Arg)SNV Uncertain significance 902717 3:43641977-43641977 3:43600485-43600485
44 ANO10 NM_018075.5(ANO10):c.127A>G (p.Lys43Glu)SNV Uncertain significance 902718 3:43647218-43647218 3:43605726-43605726
45 ANO10 NM_018075.5(ANO10):c.-104C>TSNV Uncertain significance 900167 3:43663493-43663493 3:43622001-43622001
46 ANO10 NM_018075.5(ANO10):c.1914+3G>ASNV Uncertain significance 901746 3:43474100-43474100 3:43432608-43432608
47 ANO10 NM_018075.5(ANO10):c.592+3A>GSNV Uncertain significance 901815 3:43621842-43621842 3:43580350-43580350
48 ANO10 NM_018075.5(ANO10):c.473-6G>ASNV Uncertain significance 902716 3:43621970-43621970 3:43580478-43580478
49 ANO10 NM_018075.5(ANO10):c.*569T>CSNV Uncertain significance 900037 3:43407829-43407829 3:43366337-43366337
50 ANO10 NM_018075.5(ANO10):c.*418T>CSNV Uncertain significance 900038 3:43407980-43407980 3:43366488-43366488

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 10:

73
# Symbol AA change Variation ID SNP ID
1 ANO10 p.Leu510Arg VAR_064888 rs387907089

Expression for Spinocerebellar Ataxia, Autosomal Recessive 10

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 10.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 10

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 10

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.17 MYO9A ANO7 ANO6 ANO5 ANO3 ANO10

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 ANO7 ANO6 ANO5 ANO3 ANO10
2 ion transmembrane transport GO:0034220 9.77 ANO7 ANO6 ANO5 ANO3 ANO10
3 lipid transport GO:0006869 9.63 ANO7 ANO6 ANO3
4 chloride transport GO:0006821 9.62 ANO7 ANO6 ANO5 ANO10
5 cation transport GO:0006812 9.48 ANO6 ANO10
6 calcium activated phosphatidylserine scrambling GO:0061589 9.43 ANO7 ANO6
7 calcium activated galactosylceramide scrambling GO:0061591 9.43 ANO7 ANO6 ANO3
8 calcium activated phosphatidylcholine scrambling GO:0061590 9.33 ANO7 ANO6 ANO3
9 calcium activated phospholipid scrambling GO:0061588 9.13 ANO7 ANO6 ANO3
10 chloride transmembrane transport GO:1902476 9.02 ANO7 ANO6 ANO5 ANO3 ANO10

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 9.56 ANO7 ANO6 ANO5 ANO3
2 phospholipid scramblase activity GO:0017128 9.33 ANO7 ANO6 ANO3
3 calcium activated cation channel activity GO:0005227 9.32 ANO6 ANO10
4 chloride channel activity GO:0005254 9.26 ANO7 ANO6 ANO5 ANO3
5 intracellular calcium activated chloride channel activity GO:0005229 9.02 ANO7 ANO6 ANO5 ANO3 ANO10

Sources for Spinocerebellar Ataxia, Autosomal Recessive 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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