ARCA
MCID: ATS307
MIFTS: 39

Autosomal Recessive Cerebellar Ataxia (ARCA)

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 58 6 15
Arca 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebellar ataxia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Portugal),1-9/100000 (Worldwide),1-9/100000 (France),1-9/100000 (Norway),1-9/100000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050950
Orphanet 58 ORPHA1172

Summaries for Autosomal Recessive Cerebellar Ataxia

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

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia, also known as arca, is related to spinocerebellar ataxia, autosomal recessive 8 and spinocerebellar ataxia, autosomal recessive 4. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include prostate, heart and eye, and related phenotype is behavior/neurological.

Related Diseases for Autosomal Recessive Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 33.4 SYNE1 SPTBN2 SETX COQ8A
2 spinocerebellar ataxia, autosomal recessive 4 33.1 ZNF592 VPS13D
3 spinocerebellar ataxia, autosomal recessive 14 33.1 SYNE1 SPTBN2 SPG7 COQ8A
4 coenzyme q10 deficiency, primary, 4 32.8 SETX COQ8A
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.7 TDP1 SPTBN2 SETX COQ8A
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 32.4 SETX ANO10 AFP
7 ataxia-oculomotor apraxia 3 32.3 TDP1 SETX
8 spinocerebellar ataxia, autosomal recessive 24 32.3 SPG7 GRM1 GBA2
9 spastic ataxia 31.0 VPS13D SPTBN2 SPG7 SETX GBA2 COQ8A
10 peripheral nervous system disease 30.9 TWNK TDP1 SPG7 SETX H2AC18
11 axonal neuropathy 30.7 TWNK TDP1 SETX
12 cerebellar ataxia, nonprogressive, with mental retardation 30.7 ZNF592 CWF19L1
13 hereditary ataxia 30.7 VPS13D TWNK TDP1 SPTBN2 SPG7 SNX14
14 spastic paraplegia 7, autosomal recessive 30.7 SPG7 SETX COQ8A ANO10
15 hereditary spastic paraplegia 30.6 SPG7 SETX GRID2 GBA2
16 spastic paraplegia 46, autosomal recessive 30.6 SPG7 GBA2
17 autosomal dominant cerebellar ataxia 30.5 TWNK TDP1 STUB1 SPTBN2 SPG7 SETX
18 cerebellar disease 29.7 TWNK TDP1 SYNE1 SPTBN2 SPG7 SNX14
19 spinocerebellar ataxia, autosomal recessive 3 11.6
20 spinocerebellar ataxia, autosomal recessive 23 11.6
21 spinocerebellar ataxia, autosomal recessive 16 11.5
22 spinocerebellar ataxia, autosomal recessive 17 11.5
23 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.5
24 spinocerebellar ataxia, autosomal recessive 10 11.5
25 spinocerebellar ataxia, autosomal recessive 12 11.5
26 spinocerebellar ataxia, autosomal recessive 11 11.5
27 spinocerebellar ataxia, autosomal recessive 15 11.5
28 autosomal recessive cerebellar ataxia with late-onset spasticity 11.4
29 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 11.2
30 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 11.2
31 autosomal recessive cerebellar ataxia due to a dna repair defect 11.2
32 ataxia-telangiectasia 11.1
33 spinocerebellar ataxia, autosomal recessive 2 11.1
34 spastic ataxia, charlevoix-saguenay type 11.1
35 spinocerebellar ataxia, autosomal recessive 13 11.1
36 spinocerebellar ataxia, autosomal recessive 20 11.1
37 boucher-neuhauser syndrome 11.1
38 cerebellar ataxia, cayman type 11.1
39 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 11.1
40 spinocerebellar ataxia, autosomal recessive 6 11.1
41 spinocerebellar ataxia, autosomal recessive 7 11.1
42 spinocerebellar ataxia, autosomal recessive 18 11.1
43 lichtenstein-knorr syndrome 11.1
44 spinocerebellar ataxia, autosomal recessive 21 11.1
45 spinocerebellar ataxia, autosomal recessive 22 11.1
46 spinocerebellar ataxia, autosomal recessive 25 11.1
47 spinocerebellar ataxia, autosomal recessive 26 11.1
48 spinocerebellar ataxia, autosomal recessive 27 11.1
49 ataxia and polyneuropathy, adult-onset 10.9
50 israeli tick typhus 10.5 SPTBN2 PMPCA

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

MGI Mouse Phenotypes related to Autosomal Recessive Cerebellar Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 AFP COQ8A GRID2 GRM1 PMPCA SETX

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ARCA-1 Study: Perioperative Care in the Cancer Patient -1 Recruiting NCT04491409
2 Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia Not yet recruiting NCT04261127

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:

40
Prostate, Heart, Eye, Spleen, Kidney, Thyroid, Uterus

Publications for Autosomal Recessive Cerebellar Ataxia

Articles related to Autosomal Recessive Cerebellar Ataxia:

(show top 50) (show all 880)
# Title Authors PMID Year
1
A trial for improving thyroid gland dysfunction in rats by using a marine organism extract. 61
32935817 2021
2
Structural Insights into the Interaction of Clinically Relevant Phosphorothioate mRNA Cap Analogs with Translation Initiation Factor 4E Reveal Stabilization via Electrostatic Thio-Effect. 61
33439620 2021
3
Cap 1 Messenger RNA Synthesis with Co-transcriptional CleanCap® Analog by In Vitro Transcription. 61
33524237 2021
4
The Staphylococcal Cassette Chromosome mec (SCCmec) Analysis and Biofilm Formation of Methicillin-Resistant Staphylococcus cohnii Isolated from Clinical Samples in Tehran, Iran. 61
33568036 2021
5
Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants. 61
32889669 2021
6
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17. 61
33012273 2021
7
Prevalence and factors associated with HIV-1 multi-drug resistance over the past two decades in the Italian ARCA database. 61
33259914 2021
8
Purification, secondary structure and antioxidant activity of metallothionein zinc-binding proteins from Arca subcrenata. 61
33561519 2021
9
Immunogenicity and protection efficacy of a Salmonella enterica serovar Typhimurium fnr, arcA and fliC mutant. 61
33341307 2021
10
Smartphone App for monitoring Asthma in children and adolescents. 61
33387290 2021
11
Activation of regulator ArcA in the presence of hypochlorite in Salmonella enterica serovar Typhimurium. 61
33188860 2021
12
Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family. 61
33569519 2021
13
The virulence of Salmonella Enteritidis in Galleria mellonella is improved by N-dodecanoyl-homoserine lactone. 61
33444697 2021
14
The molecular epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) in the Czech Republic. 61
33118033 2021
15
Combined effect of arginine and fluoride on the growth of Lactobacillus rhamnosus GG. 61
33441658 2021
16
Identification of Z nucleotides as an ancient signal for two-component system activation in bacteria. 61
33318202 2020
17
Study of the relationship between extracellular superoxide and glutathione production in batch cultures of Escherichia coli. 61
32721518 2020
18
Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker. 61
33044027 2020
19
Citrate utilization under anaerobic environment in Escherichia coli is under direct control of Fnr and indirect control of ArcA and Fnr via CitA-CitB system. 61
33325149 2020
20
Long-term maintenance of virologic suppression in native and migrant HIV-1 naïve patients: an Italian cohort study. 61
33172289 2020
21
Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. 61
32769066 2020
22
Primary coenzyme Q10 deficiency due to COQ8A gene mutations. 61
32743982 2020
23
Interarterial course of anomalous right coronary artery: role of symptoms and surgical outcomes. 61
32310847 2020
24
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation. 61
32979145 2020
25
Marked decrease in acquired resistance to antiretrovirals in latest years in Italy. 61
32979570 2020
26
Proteomic Analysis of Proteins Associated with Inhibition of Pseudomonas aeruginosa Resistance to Imipenem Mediated by the Chinese Herbal Medicine Qi Gui Yin. 61
32924788 2020
27
Evolution of mitochondrial gene arrangements in Arcidae (Bivalvia: Arcida) and their phylogenetic implications. 61
32512195 2020
28
Stereoselective synthesis of a branched α-decaglucan. 61
32789329 2020
29
Technical success and long-term outcomes after anomalous right coronary artery stenting with cardiac computed tomography angiography correlation. 61
31430026 2020
30
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings. 61
32787936 2020
31
Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency. 61
32830305 2020
32
The response regulator ArcA enhances biofilm formation in the vpsT manner under the anaerobic condition in Vibrio cholerae. 61
32283260 2020
33
Characterization of Weissella koreensis SK Isolated from Kimchi Fermented at Low Temperature (around 0 °C) Based on Complete Genome Sequence and Corresponding Phenotype. 61
32751267 2020
34
Transcription Factor ArcA is a Flux Sensor for the Oxygen Consumption Rate in Escherichia coli. 61
32383263 2020
35
Mutual interplay between ArcA and σE orchestrates envelope stress response in Shewanella oneidensis. 61
32372525 2020
36
Trace elements and oxidative stress in the Ark shell Arca noae from a Mediterranean coastal lagoon (Bizerte lagoon, Tunisia): are there health risks associated with their consumption? 61
32128728 2020
37
Concurrence of multiple sclerosis, oligodendroglioma, and autosomal recessive cerebellar ataxia with spasticity in the same patient: A challenging diagnosis. 61
31954225 2020
38
Toxicity of Carbon, Silicon, and Metal-Based Nanoparticles to the Hemocytes of Three Marine Bivalves. 61
32397595 2020
39
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. 61
33042236 2020
40
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype. 61
32340215 2020
41
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. 61
30022445 2020
42
Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison. 61
31933160 2020
43
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. 61
32170608 2020
44
Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene. 61
32259893 2020
45
Sudden Cardiac Death in a Patient with Anomalous Origin of Right Coronary Artery with Concomitant Sinus of Valsalva Aneurysm. 61
32328387 2020
46
Suppression of antibiotic resistance evolution by single-gene deletion. 61
32144279 2020
47
Predominance of methicillin-resistant Staphylococcus aureus SCCmec type II-CC5 and SCCmec type IV-CC1/CC8 among companion animal clinical isolates in Japan: Findings from phylogenetic comparison with human clinical isolates. 61
31472282 2020
48
Expression regulation of multiple key genes to improve L-threonine in Escherichia coli. 61
32093713 2020
49
Arginine Catabolic Mobile Element in Evolution and Pathogenicity of the Community-Associated Methicillin-Resistant Staphylococcus aureus Strain USA300. 61
32085445 2020
50
Computer-Aided Rational Design of Efficient NADPH Production System by Escherichia coli pgi Mutant Using a Mixture of Glucose and Xylose. 61
32318559 2020

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO10 NM_018075.5(ANO10):c.132dup (p.Asp45fs) Duplication Pathogenic 162016 rs540331226 3:43647212-43647213 3:43605720-43605721
2 SYNE1 NM_182961.4(SYNE1):c.16390-2A>G SNV Likely pathogenic 667389 rs759460806 6:152639400-152639400 6:152318265-152318265
3 COQ8A NM_020247.5(COQ8A):c.687G>A (p.Leu229=) SNV Uncertain significance 296012 rs752409331 1:227165181-227165181 1:226977480-226977480
4 TWNK NM_021830.5(TWNK):c.*803A>G SNV Uncertain significance 298521 rs886046640 10:102754070-102754070 10:100994313-100994313
5 COQ8A NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) SNV Uncertain significance 296018 rs139133094 1:227171487-227171487 1:226983786-226983786
6 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486
7 TWNK NM_021830.5(TWNK):c.*709C>G SNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219
8 SPTBN2 NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg) SNV Uncertain significance 305593 rs190532690 11:66478158-66478158 11:66710687-66710687
9 SPTBN2 NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) SNV Uncertain significance 305565 rs558572111 11:66468139-66468139 11:66700668-66700668
10 ANO10 NM_018075.5(ANO10):c.-95del Deletion Uncertain significance 345203 rs886058483 3:43663484-43663484 3:43621992-43621992
11 ANO10 NM_018075.5(ANO10):c.*464C>T SNV Uncertain significance 345161 rs886058475 3:43407934-43407934 3:43366442-43366442
12 TDP1 NM_018319.4(TDP1):c.-232A>C SNV Uncertain significance 314814 rs886050882 14:90422313-90422313 14:89955969-89955969
13 SPTBN2 NM_006946.3(SPTBN2):c.3430C>T (p.Arg1144Ter) SNV Uncertain significance 632168 rs1402216317 11:66468140-66468140 11:66700669-66700669
14 ANO10 NM_018075.5(ANO10):c.*74dup Duplication Uncertain significance 345174 rs556549778 3:43408323-43408324 3:43366831-43366832
15 ANO10 NM_018075.5(ANO10):c.1294-3del Deletion Uncertain significance 345185 rs778730043 3:43602897-43602897 3:43561405-43561405
16 ANO10 NM_001346468.2(ANO10):c.-11-16174G>A SNV Uncertain significance 345205 rs886058485 3:43663529-43663529 3:43622037-43622037
17 COQ8A NM_020247.5(COQ8A):c.*570T>C SNV Uncertain significance 296041 rs778729725 1:227175008-227175008 1:226987307-226987307
18 COQ8A NM_020247.5(COQ8A):c.1399-13G>A SNV Uncertain significance 296022 rs73087649 1:227172236-227172236 1:226984535-226984535
19 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV Uncertain significance 298500 rs62626271 10:102749009-102749009 10:100989252-100989252
20 TWNK NM_021830.5(TWNK):c.*367A>G SNV Uncertain significance 298508 rs62626296 10:102753634-102753634 10:100993877-100993877
21 COQ8A NM_020247.5(COQ8A):c.291C>T (p.Ser97=) SNV Uncertain significance 136299 rs111529228 1:227152814-227152814 1:226965113-226965113
22 COQ8A NM_020247.4(COQ8A):c.-137C>A SNV Uncertain significance 296006 rs557786445 1:227127973-227127973 1:226940272-226940272
23 TWNK NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) SNV Uncertain significance 298494 rs577209883 10:102748043-102748043 10:100988286-100988286
24 COQ8A NM_020247.5(COQ8A):c.*252A>C SNV Uncertain significance 296035 rs886046070 1:227174690-227174690 1:226986989-226986989
25 COQ8A NM_020247.5(COQ8A):c.*349G>A SNV Uncertain significance 296037 rs113041399 1:227174787-227174787 1:226987086-226987086
26 TWNK NM_021830.5(TWNK):c.-290G>C SNV Uncertain significance 298491 rs62626270 10:102747678-102747678 10:100987921-100987921
27 TWNK NM_021830.5(TWNK):c.*301C>T SNV Uncertain significance 298507 rs41291468 10:102753568-102753568 10:100993811-100993811
28 TWNK NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) SNV Uncertain significance 298496 rs886046630 10:102748241-102748241 10:100988484-100988484
29 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV Uncertain significance 214178 rs370814108 10:102753187-102753187 10:100993430-100993430
30 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Uncertain significance 298499 rs754389465 10:102748889-102748889 10:100989132-100989132
31 SPTBN2 NM_006946.3(SPTBN2):c.2162G>A (p.Arg721His) SNV Uncertain significance 305576 rs200016211 11:66472585-66472585 11:66705114-66705114
32 COQ8A NM_020247.5(COQ8A):c.-113A>G SNV Uncertain significance 296007 rs886046063 1:227127997-227127997 1:226940296-226940296
33 TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273
34 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV Uncertain significance 298501 rs200798080 10:102749068-102749068 10:100989311-100989311
35 COQ8A NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) SNV Uncertain significance 296023 rs141423403 1:227173026-227173026 1:226985325-226985325
36 COQ8A NM_020247.5(COQ8A):c.1800C>T (p.Val600=) SNV Uncertain significance 296028 rs74589348 1:227174294-227174294 1:226986593-226986593
37 TWNK NM_021830.5(TWNK):c.-549G>A SNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662
38 TWNK NM_021830.5(TWNK):c.-650A>G SNV Uncertain significance 298484 rs187213541 10:102747318-102747318 10:100987561-100987561
39 TWNK NM_021830.5(TWNK):c.-470G>A SNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741
40 TWNK NM_021830.5(TWNK):c.*574C>T SNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084
41 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287
42 COQ8A NM_020247.5(COQ8A):c.*326C>G SNV Uncertain significance 296036 rs886046071 1:227174764-227174764 1:226987063-226987063
43 TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744
44 COQ8A NM_020247.5(COQ8A):c.1163-10C>T SNV Uncertain significance 296017 rs886046067 1:227171452-227171452 1:226983751-226983751
45 COQ8A NM_020247.5(COQ8A):c.*693G>T SNV Uncertain significance 296046 rs886046074 1:227175131-227175131 1:226987430-226987430
46 COQ8A NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) SNV Uncertain significance 296026 rs762900727 1:227174205-227174205 1:226986504-226986504
47 TWNK NM_021830.5(TWNK):c.-585T>G SNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626
48 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308
49 TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129
50 TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257

Expression for Autosomal Recessive Cerebellar Ataxia

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

Pathways for Autosomal Recessive Cerebellar Ataxia

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

# Super pathways Score Top Affiliating Genes
1 10.95 TWNK SPTBN2 GRM1

GO Terms for Autosomal Recessive Cerebellar Ataxia

Cellular components related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 parallel fiber to Purkinje cell synapse GO:0098688 8.62 SPTBN2 GRID2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial calcium ion transmembrane transport GO:0006851 8.96 SPG7 PMPCA
2 mitochondrion organization GO:0007005 8.8 VPS13D TWNK SPG7

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

# Name GO ID Score Top Affiliating Genes
1 glutamate receptor activity GO:0008066 8.62 GRM1 GRID2

Sources for Autosomal Recessive Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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