Spinocerebellar Ataxia 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN312 MIFTS: 46	Spinocerebellar Ataxia 14 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases
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Aliases & Classifications for Spinocerebellar Ataxia 14

MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Sca14 ⁵⁷ ²⁴ ⁵³ ⁵⁹ ⁷⁵ ⁵⁵

Spinocerebellar Ataxia Type 14 ¹² ²⁴ ⁵³ ⁵⁹ ¹⁵

Ataxia, Spinocerebellar, Type 14 ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
slow progression
mean age of onset 31 years (range 5-60)

HPO:

³²

spinocerebellar ataxia 14:
Onset and clinical course incomplete penetrance slow progression
Inheritance autosomal dominant inheritance

GeneReviews:

²⁴

Penetrance Too few families have been studied to specify the penetrance or to determine if decreased penetrance is related to specific pathogenic variants. however, clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least two families [yabe et al 2003, chen et al 2005]. in general, penetrance is high when late-onset cases are included [klebe et al 2005]...

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 605361

Disease Ontology ¹² DOID:0050964

Orphanet ⁵⁹ ORPHA98763

MESH via Orphanet ⁴⁵ C537196

UMLS via Orphanet ⁷⁴ C1854369

ICD10 via Orphanet ³⁴ G11.2

MedGen ⁴² C1854369

MeSH ⁴⁴ D020754

UMLS ⁷³ C1854369

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Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98763Disease definitionSpinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.EpidemiologyThe disease has been reported in more than twenty families from Europe, the United States, and Australia.Clinical descriptionOnset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia, axial myoclonus, facial myokymia, choreic movement of hands and epilepsy.EtiologySCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma).PrognosisPrognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 14, also known as sca14, is related to aceruloplasminemia and spinocerebellar ataxia, autosomal recessive 14, and has symptoms including memory loss and gait ataxia. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are MAPK signaling pathway and Proteoglycans in cancer. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are gait ataxia and generalized hypotonia

UniProtKB/Swiss-Prot : ⁷⁵ Spinocerebellar ataxia 14: Spinocerebellar ataxia is 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

Description from OMIM: 605361

GeneReviews: NBK1399

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Related Diseases for Spinocerebellar Ataxia 14

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 6
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, Autosomal Recessive 1
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 Type 16
Spinocerebellar Ataxia Type 19/22	Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 14 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	aceruloplasminemia	30.4	APTX ITPR1 PRKCG
2	spinocerebellar ataxia, autosomal recessive 14	11.1
3	dystonia 11, myoclonic	10.9
4	ataxia-oculomotor apraxia 3	10.3
5	autosomal dominant cerebellar ataxia	10.2
6	cerebellar disease	10.1	APTX ITPR1 PRKCG
7	internal hemorrhoid	9.8	CASP3 HSPA4
8	hypomyelinating leukoencephalopathy	9.7	GJA1 HSPA4
9	ischemia	8.9	CASP3 GJA1 HSPA4

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:

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Symptoms & Phenotypes for Spinocerebellar Ataxia 14

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic intrusions

Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
decreased vibration sense at ankles

Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysphagia
gait ataxia
dysmetria
more

Neurologic Behavioral Psychiatric Manifestations:
depression
memory loss
cognitive decline
attention deficits

Clinical features from OMIM:

605361

Human phenotypes related to Spinocerebellar Ataxia 14:

⁵⁹ ³² (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	gait ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002066
2	generalized hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001290
3	limb ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002070
4	progressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002073
5	abnormality of the achilles tendon ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005109
6	cerebellar vermis atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006855
7	gaze-evoked nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000640
8	saccadic smooth pursuit ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001152
9	dysarthria ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001260
10	myoclonus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001336
11	tremor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001337
12	rigidity ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002063
13	hyporeflexia of lower limbs ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002600
14	sensory impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003474
15	cognitive impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100543
16	facial myokymia ³²			HP:0000317
17	nystagmus ³²			HP:0000639
18	depressivity ³²			HP:0000716
19	mental deterioration ³²			HP:0001268
20	cerebellar atrophy ³²			HP:0001272
21	dysmetria ³²			HP:0001310
22	hyperreflexia ³²			HP:0001347
23	dysphagia ³²			HP:0002015
24	memory impairment ³²			HP:0002354
25	focal dystonia ³²			HP:0004373
26	impaired vibration sensation at ankles ³²			HP:0006938
27	attention deficit hyperactivity disorder ³²			HP:0007018

UMLS symptoms related to Spinocerebellar Ataxia 14:

memory loss, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.97	ATG5 CASP3 DDIT3 GJA1 HSPA4 ITPR1
2	cellular	MP:0005384	9.91	SGCE APTX ATG5 CASP3 DDIT3 GJA1
3	immune system	MP:0005387	9.76	ATG5 CASP3 DDIT3 GJA1 ITPR1 PRKCG
4	nervous system	MP:0003631	9.65	ATG5 CASP3 DDIT3 GJA1 HSPA4 HSPA5
5	vision/eye	MP:0005391	9.1	ATG5 CASP3 GJA1 GJA8 ITPR1 TRPC3

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Drugs & Therapeutics for Spinocerebellar Ataxia 14

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 14

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Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia 14 ²⁹	PRKCG

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Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

⁴¹

Eye, Spinal Cord, Cerebellum

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Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

#	Title	Authors	Year
1	Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )	Shimobayashi E....Kapfhammer J.P.	2017
2	Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ( 24937631 )	Ji J....Kapfhammer J.P.	2014
3	Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ( 17149711 )	Nolte D....MA1ller U.	2007
4	Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ( 15618281 )	Verbeek D.S....Howell B.W.	2005
5	The clinical and genetic spectrum of spinocerebellar ataxia 14. ( 15824357 )	Chen D.H....Bird T.D.	2005

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Genes for Spinocerebellar Ataxia 14

Genes related to Spinocerebellar Ataxia 14 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKCG	Protein Kinase C Gamma	Protein Coding	1721.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	21937992 20301573 20301317 (more) 20050888 12164726 12644968 17024314 14694043 15841389 15618281 14676051 15313841 15824357 16189624 19561170 18577575 15618281 16763984 14676051 18986758 17024314 17822669 16828200 15841389 15148151 15313841 15824357 17708558 19561170 16189624 16193476
2	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	15.8	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	EEA1	Early Endosome Antigen 1	Protein Coding	15.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	APTX	Aprataxin	Protein Coding	14.89	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SGCE	Sarcoglycan Epsilon	Protein Coding	14.61	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	14.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GJA8	Gap Junction Protein Alpha 8	Protein Coding	14.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	ATG5	Autophagy Related 5	Protein Coding	13.84	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	CASP3	Caspase 3	Protein Coding	13.59	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	GJA1	Gap Junction Protein Alpha 1	Protein Coding	13.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	13.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	MARCKS	Myristoylated Alanine Rich Protein Kinase C Substrate	Protein Coding	4.76	DISEASES inferred ¹⁵
13	DDIT3	DNA Damage Inducible Transcript 3	Protein Coding	3.63	DISEASES inferred ¹⁵
14	HSPA4	Heat Shock Protein Family A (Hsp70) Member 4	Protein Coding	3.12	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 14

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	PRKCG	p.His101Tyr	VAR_017060	rs121918511
2	PRKCG	p.Ser119Pro	VAR_017061	rs121918512
3	PRKCG	p.Gly128Asp	VAR_017062	rs121918513

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

⁶

(show top 50) (show all 67)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PRKCG	NM_002739.4(PRKCG): c.301C> T (p.His101Tyr)	single nucleotide variant	Pathogenic	rs121918511	GRCh37	Chromosome 19, 54392907: 54392907
2	PRKCG	NM_002739.4(PRKCG): c.301C> T (p.His101Tyr)	single nucleotide variant	Pathogenic	rs121918511	GRCh38	Chromosome 19, 53889653: 53889653
3	PRKCG	NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro)	single nucleotide variant	Pathogenic	rs121918512	GRCh37	Chromosome 19, 54392961: 54392961
4	PRKCG	NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro)	single nucleotide variant	Pathogenic	rs121918512	GRCh38	Chromosome 19, 53889707: 53889707
5	PRKCG	NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp)	single nucleotide variant	Pathogenic	rs121918513	GRCh37	Chromosome 19, 54392989: 54392989
6	PRKCG	NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp)	single nucleotide variant	Pathogenic	rs121918513	GRCh38	Chromosome 19, 53889735: 53889735
7	PRKCG	NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp)	single nucleotide variant	Pathogenic	rs121918514	GRCh37	Chromosome 19, 54392959: 54392959
8	PRKCG	NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp)	single nucleotide variant	Pathogenic	rs121918514	GRCh38	Chromosome 19, 53889705: 53889705
9	PRKCG	NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg)	single nucleotide variant	Pathogenic	rs121918515	GRCh37	Chromosome 19, 54392986: 54392986
10	PRKCG	NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg)	single nucleotide variant	Pathogenic	rs121918515	GRCh38	Chromosome 19, 53889732: 53889732
11	PRKCG	NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu)	single nucleotide variant	Pathogenic	rs121918516	GRCh37	Chromosome 19, 54409982: 54409982
12	PRKCG	NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu)	single nucleotide variant	Pathogenic	rs121918516	GRCh38	Chromosome 19, 53906728: 53906728
13	PRKCG	NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly)	single nucleotide variant	Pathogenic	rs121918517	GRCh37	Chromosome 19, 54401354: 54401354
14	PRKCG	NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly)	single nucleotide variant	Pathogenic	rs121918517	GRCh38	Chromosome 19, 53898100: 53898100
15	PRKCG	NM_002739.4(PRKCG): c.303C> G (p.His101Gln)	single nucleotide variant	Pathogenic	rs121918518	GRCh37	Chromosome 19, 54392909: 54392909
16	PRKCG	NM_002739.4(PRKCG): c.303C> G (p.His101Gln)	single nucleotide variant	Pathogenic	rs121918518	GRCh38	Chromosome 19, 53889655: 53889655
17	PRKCG	NM_002739.4(PRKCG): c.2091_*98del102	deletion	Pathogenic		GRCh37	Chromosome 19, 54410146: 54410247
18	PRKCG	NM_002739.4(PRKCG): c.2091_*98del102	deletion	Pathogenic		GRCh38	Chromosome 19, 53906892: 53906993
19	PRKCG	NM_002739.3(PRKCG): c.530_919del	deletion	Pathogenic
20	PRKCG	NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr)	single nucleotide variant	Pathogenic	rs387906679	GRCh37	Chromosome 19, 54403866: 54403866
21	PRKCG	NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr)	single nucleotide variant	Pathogenic	rs387906679	GRCh38	Chromosome 19, 53900612: 53900612
22	PRKCG	NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser)	single nucleotide variant	Pathogenic	rs386134171	GRCh37	Chromosome 19, 54401351: 54401351
23	PRKCG	NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser)	single nucleotide variant	Pathogenic	rs386134171	GRCh38	Chromosome 19, 53898097: 53898097
24	PRKCG	NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro)	single nucleotide variant	Pathogenic	rs386134158	GRCh37	Chromosome 19, 54385870: 54385870
25	PRKCG	NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro)	single nucleotide variant	Pathogenic	rs386134158	GRCh38	Chromosome 19, 53882616: 53882616
26	PRKCG	NM_002739.4(PRKCG): c.188G> T (p.Gly63Val)	single nucleotide variant	Pathogenic	rs386134159	GRCh37	Chromosome 19, 54386434: 54386434
27	PRKCG	NM_002739.4(PRKCG): c.188G> T (p.Gly63Val)	single nucleotide variant	Pathogenic	rs386134159	GRCh38	Chromosome 19, 53883180: 53883180
28	PRKCG	NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser)	single nucleotide variant	Pathogenic	rs386134160	GRCh37	Chromosome 19, 54387441: 54387441
29	PRKCG	NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser)	single nucleotide variant	Pathogenic	rs386134160	GRCh38	Chromosome 19, 53884187: 53884187
30	PRKCG	NM_002739.4(PRKCG): c.296_301delACAAAC (p.His101_Lys102del)	deletion	Pathogenic	rs386134161	GRCh37	Chromosome 19, 54392902: 54392907
31	PRKCG	NM_002739.4(PRKCG): c.296_301delACAAAC (p.His101_Lys102del)	deletion	Pathogenic	rs386134161	GRCh38	Chromosome 19, 53889648: 53889653
32	PRKCG	NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr)	single nucleotide variant	Pathogenic	rs386134162	GRCh37	Chromosome 19, 54392947: 54392947
33	PRKCG	NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr)	single nucleotide variant	Pathogenic	rs386134162	GRCh38	Chromosome 19, 53889693: 53889693
34	PRKCG	NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe)	single nucleotide variant	Pathogenic	rs386134163	GRCh37	Chromosome 19, 54392962: 54392962
35	PRKCG	NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe)	single nucleotide variant	Pathogenic	rs386134163	GRCh38	Chromosome 19, 53889708: 53889708
36	PRKCG	NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg)	single nucleotide variant	Pathogenic	rs386134164	GRCh37	Chromosome 19, 54392973: 54392973
37	PRKCG	NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg)	single nucleotide variant	Pathogenic	rs386134164	GRCh38	Chromosome 19, 53889719: 53889719
38	PRKCG	NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu)	single nucleotide variant	Pathogenic	rs386134165	GRCh37	Chromosome 19, 54392974: 54392974
39	PRKCG	NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu)	single nucleotide variant	Pathogenic	rs386134165	GRCh38	Chromosome 19, 53889720: 53889720
40	PRKCG	NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg)	single nucleotide variant	Pathogenic	rs386134166	GRCh37	Chromosome 19, 54392997: 54392997
41	PRKCG	NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg)	single nucleotide variant	Pathogenic	rs386134166	GRCh38	Chromosome 19, 53889743: 53889743
42	PRKCG	NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr)	single nucleotide variant	Pathogenic	rs386134167	GRCh37	Chromosome 19, 54392998: 54392998
43	PRKCG	NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr)	single nucleotide variant	Pathogenic	rs386134167	GRCh38	Chromosome 19, 53889744: 53889744
44	PRKCG	NM_002739.4(PRKCG): c.413T> A (p.Val138Glu)	single nucleotide variant	Pathogenic	rs386134168	GRCh37	Chromosome 19, 54393155: 54393155
45	PRKCG	NM_002739.4(PRKCG): c.413T> A (p.Val138Glu)	single nucleotide variant	Pathogenic	rs386134168	GRCh38	Chromosome 19, 53889901: 53889901
46	PRKCG	NM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe)	indel	Pathogenic	rs386134170	GRCh37	Chromosome 19, 54393191: 54393192
47	PRKCG	NM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe)	indel	Pathogenic	rs386134170	GRCh38	Chromosome 19, 53889937: 53889938
48	PRKCG	NM_002739.4(PRKCG): c.417C> A (p.His139Gln)	single nucleotide variant	Pathogenic	rs386134169	GRCh37	Chromosome 19, 54393159: 54393159
49	PRKCG	NM_002739.4(PRKCG): c.417C> A (p.His139Gln)	single nucleotide variant	Pathogenic	rs386134169	GRCh38	Chromosome 19, 53889905: 53889905
50	PRKCG	NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly)	single nucleotide variant	Pathogenic	rs386134157	GRCh37	Chromosome 19, 54385824: 54385824

Sources

Expression for Spinocerebellar Ataxia 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.

Sources

Pathways for Spinocerebellar Ataxia 14

Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	MAPK signaling pathway ¹ ³⁷	12.29	CASP3 DDIT3 HSPA5 PRKCG
2	Proteoglycans in cancer ³⁷	11.96	CASP3 ITPR1 PRKCG
3	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.75	GJA1 GJA8 ITPR1 PRKCG
4	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.73	CASP3 ITPR1 PRKCG
5	Ca, cAMP and Lipid Signaling ⁴	11.54	ITPR1 MARCKS PRKCG
6	Serotonergic synapse ³⁷	11.38	CASP3 ITPR1 PRKCG
7	Proteolysis_Putative ubiquitin pathway ²²	11	HSPA4 HSPA5
8	Effects of PIP2 hydrolysis ⁶⁶ Show member pathways Arachidonate production from DAG ⁶⁶	10.94	ITPR1 TRPC3
9	Photodynamic therapy-induced unfolded protein response ¹	10.83	DDIT3 HSPA5
10	Gap junction ³⁷	10.74	GJA1 ITPR1 PRKCG

Sources

GO Terms for Spinocerebellar Ataxia 14

Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	9.4	APTX ATG5 CASP3 DDIT3 EEA1 GJA1
2	gap junction	GO:0005921	9.16	GJA1 GJA8
3	connexin complex	GO:0005922	8.96	GJA1 GJA8

Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	apoptotic process	GO:0006915	9.77	ATG5 CASP3 DDIT3 GJA1 ITPR1
2	platelet activation	GO:0030168	9.58	ITPR1 PRKCG TRPC3
3	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	GO:0070059	9.49	DDIT3 ITPR1
4	chaperone cofactor-dependent protein refolding	GO:0051085	9.48	HSPA4 HSPA5
5	protein refolding	GO:0042026	9.46	HSPA4 HSPA5
6	cellular response to unfolded protein	GO:0034620	9.43	HSPA4 HSPA5
7	PERK-mediated unfolded protein response	GO:0036499	9.32	DDIT3 HSPA5
8	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	GO:1990440	9.26	DDIT3 HSPA5
9	ER overload response	GO:0006983	9.16	DDIT3 HSPA5
10	ATF6-mediated unfolded protein response	GO:0036500	8.96	DDIT3 HSPA5
11	response to unfolded protein	GO:0006986	8.8	DDIT3 HSPA4 HSPA5

Molecular functions related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	misfolded protein binding	GO:0051787	9.26	HSPA4 HSPA5
2	ATPase activity, coupled	GO:0042623	9.16	HSPA4 HSPA5
3	gap junction channel activity	GO:0005243	8.96	GJA1 GJA8
4	inositol 1,4,5 trisphosphate binding	GO:0070679	8.62	ITPR1 TRPC3

Sources

Sources for Spinocerebellar Ataxia 14

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia