Spinocerebellar Ataxia, Autosomal Recessive 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCAR13 MCID: SPN258 MIFTS: 37	Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 13:

Name: Spinocerebellar Ataxia, Autosomal Recessive 13 ⁵⁶ ²⁹ ¹³ ⁶ ⁷¹

Scar13 ⁵⁶ ⁵⁸ ⁷³

Autosomal Recessive Spinocerebellar Ataxia 13 ¹² ¹⁵

Autosomal Recessive Congenital Cerebellar Ataxia Due to Metabotropic Glutamate Receptor 1 Deficiency ⁵⁸

Autosomal Recessive Congenital Cerebellar Ataxia Due to Mglur1 Deficiency ⁵⁸

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13 ³⁹

Autosomal Recessive Spinocerebellar Ataxia Type 13 ⁵⁸

Spinocerebellar Ataxia, Autosomal Recessive, 13 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive
observed in individuals of bulgarian roma bowlmaker ethnic group

HPO:

³¹

spinocerebellar ataxia, autosomal recessive 13:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0080062

OMIM ⁵⁶ 614831

OMIM Phenotypic Series ⁵⁶ PS213200

MeSH ⁴³ D002524 D013132

ICD10 via Orphanet ³³ G11.1

Orphanet ⁵⁸ ORPHA324262

MedGen ⁴¹ C3553816 CN143954

UMLS ⁷¹ C3553816

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia, autosomal recessive, 13: 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. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 13, also known as scar13, is related to ataxia and polyneuropathy, adult-onset and cerebellar ataxia type 41, and has symptoms including dysdiadochokinesis An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 13 is GRM1 (Glutamate Metabotropic Receptor 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : ¹² An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has material basis in homozygous mutation in the GRM1 gene on chromosome 6q24.

OMIM : ⁵⁶ Autosomal recessive spinocerebellar ataxia-13 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (summary by Guergueltcheva et al., 2012). (614831)

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Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 13

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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	ataxia and polyneuropathy, adult-onset	10.3
2	cerebellar ataxia type 41	10.0	KCNC3 GRM1
3	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	9.9	KCNC3 GRM1
4	cerebellar disease	9.9	KCNC3 GRM1
5	autosomal dominant cerebellar ataxia	9.8	KCNC3 GRM1
6	cerebral palsy, ataxic, autosomal recessive	9.7	KCNC3 AHCYL1
7	hereditary ataxia	9.7	KCNC3 GRM1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 13:

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	hyperreflexia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001347
3	gait ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002066
4	difficulty standing ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003698
5	ptosis ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%)	HP:0000508
6	dysdiadochokinesis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002075
7	esotropia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000565
8	limb dysmetria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002406
9	hypometric saccades ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000571
10	abnormality of ocular abduction ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011347
11	horizontal nystagmus ³¹	frequent (33%)		HP:0000666
12	absent speech ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001344
13	polyneuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001271
14	gaze-evoked horizontal nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007979
15	seizure ³¹	occasional (7.5%)		HP:0001250
16	dysmetria ⁵⁸ ³¹		Frequent (79-30%)	HP:0001310
17	global developmental delay ³¹			HP:0001263
18	seizures ⁵⁸		Occasional (29-5%)
19	pes planus ³¹			HP:0001763
20	neurological speech impairment ⁵⁸		Frequent (79-30%)
21	short stature ³¹			HP:0004322
22	abnormal pyramidal sign ³¹			HP:0007256
23	tremor ³¹			HP:0001337
24	dysarthria ³¹			HP:0001260
25	ventriculomegaly ³¹			HP:0002119
26	cerebellar atrophy ³¹			HP:0001272
27	generalized hypotonia ³¹			HP:0001290
28	functional motor deficit ⁵⁸		Frequent (79-30%)
29	retrocerebellar cyst ³¹			HP:0006951
30	inferior vermis hypoplasia ³¹			HP:0007068

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Feet:
pes planus

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
horizontal nystagmus (about half of patients)
hypometric saccades (about half of patients)
abduction deficits (about half of patients)
esotropia (about half of patients)
ptosis (about half of patients)

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dysdiadochokinesis
cerebellar atrophy
more

Growth Height:
short stature (adults)

Clinical features from OMIM:

614831

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:

dysdiadochokinesis

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 13

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 13

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Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 13:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia, Autosomal Recessive 13 ²⁹	GRM1

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 13:

⁴⁰

Eye, Brain, Cerebellum, Spinal Cord

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:

#	Title	Authors	PMID	Year
1	Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. ⁵⁶ ⁶	Guergueltcheva V...Kalaydjieva L	22901947	2012
2	The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. ⁵⁶	Sachs AJ...Nystuen AM	17934773	2007
3	Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. ⁵⁶	Conquet F...Conde F	7969468	1994
4	Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. ⁵⁶	Aiba A...Tonegawa S	7954803	1994
5	Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia. ⁶¹	Bossi S...Puliti A	28982591	2018
6	The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. ⁶¹	Davarniya B...Najmabadi H	26308914	2015

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Genes for Spinocerebellar Ataxia, Autosomal Recessive 13

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1668.31	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22901947
2	KCNC3	Potassium Voltage-Gated Channel Subfamily C Member 3	Protein Coding	6.45	DISEASES inferred ¹⁵
3	CDR2L	Cerebellar Degeneration Related Protein 2 Like	Protein Coding	5.8	DISEASES inferred ¹⁵
4	HOMER3	Homer Scaffold Protein 3	Protein Coding	5.46	DISEASES inferred ¹⁵
5	PLCB3	Phospholipase C Beta 3	Protein Coding	5.34	DISEASES inferred ¹⁵
6	AHCYL1	Adenosylhomocysteinase Like 1	Protein Coding	5.31	DISEASES inferred ¹⁵
7	ARHGAP26	Rho GTPase Activating Protein 26	Protein Coding	5.14	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GRM1	NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)	SNV	Pathogenic	626248	rs774214806	6:146480672-146480672	6:146159536-146159536
2	GRM1	NM_001278064.2(GRM1):c.26dup (p.Ala11fs)	duplication	Pathogenic	818224	rs758809498	6:146350671-146350672	6:146029535-146029536
3	GRM1	NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)	SNV	Uncertain significance	447469	rs1022097029	6:146480612-146480612	6:146159476-146159476
4	GRM1	NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)	SNV	Benign/Likely benign	129212	rs1047006	6:146755560-146755560	6:146434424-146434424
5	GRM1	NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)	SNV	Benign	129213	rs9373491	6:146755842-146755842	6:146434706-146434706
6	GRM1	NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)	SNV	Benign	129209	rs2942	6:146755140-146755140	6:146434004-146434004
7	GRM1	NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)	SNV	Benign	129210	rs6923492	6:146755324-146755324	6:146434188-146434188
8	GRM1	NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)	SNV	Benign	129211	rs6923864	6:146755515-146755515	6:146434379-146434379
9	GRM1	NM_001278064.2(GRM1):c.2660+2T>C	SNV	no interpretation for the single variant	478919	rs211694393	6:146720837-146720837	6:146399701-146399701
10	GRM1	NM_001278064.2(GRM1):c.2652_2654del (p.Asn885del)	deletion	no interpretation for the single variant	478918	rs211694392	6:146720827-146720829	6:146399691-146399693

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GRM1	p.Leu454Phe	VAR_081782

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 13

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 13.

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 13

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.11	PLCB3 KCNC3 HOMER3 GRM1
2	Circadian entrainment ³⁶ Show member pathways Cholinergic synapse ³⁶ Dopaminergic synapse ³⁶ Glutamatergic synapse ³⁶ Synaptic Neurotransmission: Glutamatergic Excitation ⁶⁴	12.1	PLCB3 HOMER3 GRM1
3	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.57	HOMER3 GRM1
4	Protein-protein interactions at synapses ⁶⁵ Show member pathways Interactions of neurexins and neuroligins at synapses ⁶⁵	11.52	HOMER3 GRM1
5	Long-term potentiation ³⁶ Show member pathways Common Pathways Underlying Drug Addiction ¹	11.41	PLCB3 GRM1
6	Gap junction ³⁶	11.27	PLCB3 GRM1
7	Long-term depression ³⁶	10.93	PLCB3 GRM1
8	Spinocerebellar ataxia ³⁶	10.92	PLCB3 KCNC3 GRM1

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 13

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dendrite	GO:0030425	8.8	KCNC3 HOMER3 GRM1

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled glutamate receptor signaling pathway	GO:0007216	8.62	HOMER3 GRM1

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 13:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 13

Diseases in the Spinocerebellar Ataxia 6 family:

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 13 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 13

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 13 (1 elite genes):

Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:

Expression for Spinocerebellar Ataxia, Autosomal Recessive 13

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 13

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 13

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

Sources for Spinocerebellar Ataxia, Autosomal Recessive 13