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

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:

Orphanet: 59  
Rare neurological diseases


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

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:



Diseases related to Spinocerebellar Ataxia 14

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

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

Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 14 29 PRKCG

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

41
Eye, Spinal Cord, Cerebellum

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 )
2017
2
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ( 24937631 )
2014
3
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ( 17149711 )
2007
4
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ( 15618281 )
2005
5
The clinical and genetic spectrum of spinocerebellar ataxia 14. ( 15824357 )
2005

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

Expression for Spinocerebellar Ataxia 14

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

Pathways for Spinocerebellar Ataxia 14

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 for Spinocerebellar Ataxia 14

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
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38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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
73 UMLS
74 UMLS via Orphanet
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