SCA7
MCID: SPN291
MIFTS: 55

Spinocerebellar Ataxia 7 (SCA7)

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

Aliases & Classifications for Spinocerebellar Ataxia 7

MalaCards integrated aliases for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 57 53 75 29 13 6
Spinocerebellar Ataxia Type 7 12 24 53 59 55 15 73
Sca7 57 53 59 75
Opca Iii 57 53 75
Opca3 57 53 75
Opca with Macular Degeneration and External Ophthalmoplegia 57 53
Olivopontocerebellar Atrophy Iii 57 75
Opca with Retinal Degeneration 57 53
Olivopontocerebellar Atrophy 3 53 73
Adca, Type Ii 57 53
Olivopontocerebellar Atrophy with Retinal Degeneration 75
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome 59
Autosomal Dominant Cerebellar Ataxia, Type Ii 57
Autosomal Dominant Cerebellar Ataxia Type 2 53
Olivopontocerebellar Atrophy Iii; Opca3 57
Ataxia with Pigmentary Retinopathy 59
Ataxia, Spinocerebellar, Type 7 40
Sca 7 24

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 7
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly,Infancy; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
paternal anticipation bias
mean age at onset 32 years



GeneReviews:

24
Penetrance See molecular genetic testing...

Classifications:



Summaries for Spinocerebellar Ataxia 7

NIH Rare Diseases : 53 Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.

MalaCards based summary : Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to olivopontocerebellar atrophy and autosomal dominant cerebellar ataxia, and has symptoms including abnormal pyramidal signs, abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Deubiquitination and Chromatin organization. The drugs Riluzole and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and brain, and related phenotypes are nystagmus and dysarthria

OMIM : 57 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (164500)

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 7: 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.

GeneReviews: NBK1256

Related Diseases for Spinocerebellar Ataxia 7

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 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy 30.8 ATXN2 ATXN7
2 autosomal dominant cerebellar ataxia 30.8 ATXN2 ATXN7 SCAANT1
3 machado-joseph disease 30.1 ATXN2 ATXN7
4 spinocerebellar ataxia 2 30.0 ATXN2 ATXN7
5 dentatorubral-pallidoluysian atrophy 29.9 ATXN2 ATXN7
6 spinocerebellar ataxia, autosomal recessive 7 11.7
7 spinocerebellar ataxia 1 11.1
8 aceruloplasminemia 10.2
9 retinal degeneration 10.2
10 cone-rod dystrophy 2 10.1
11 coarctation of aorta 10.1
12 kearns-sayre syndrome 10.1
13 cerebellar disease 10.1
14 peripheral nervous system disease 10.1
15 fundus dystrophy 10.1
16 neuropathy 10.1
17 spastic paraparesis 10.1
18 spinocerebellar ataxia 12 10.0 ATXN2 ATXN7
19 ceroid lipofuscinosis, neuronal, 1 10.0
20 neuronal ceroid lipofuscinosis 10.0
21 cerebellar degeneration 10.0
22 coloboma of macula 9.9
23 ataxia and polyneuropathy, adult-onset 9.9
24 macular degeneration, age-related, 1 9.9
25 dystonia 9.9
26 hypotonia 9.9
27 hereditary ataxia 9.9 ATXN2 ATXN7

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 7:



Diseases related to Spinocerebellar Ataxia 7

Symptoms & Phenotypes for Spinocerebellar Ataxia 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
dysphagia
chorea
more
Head And Neck Eyes:
optic atrophy
macular degeneration
supranuclear ophthalmoplegia
pigmentary retinal degeneration
slow saccades
more

Clinical features from OMIM:

164500

Human phenotypes related to Spinocerebellar Ataxia 7:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 very rare (1%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 very rare (1%) Obligate (100%) HP:0001260
3 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
4 hyperreflexia 59 32 very rare (1%) Obligate (100%) HP:0001347
5 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
6 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
9 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
10 photophobia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000613
11 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
12 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
13 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
14 dysmetria 59 32 obligate (100%) Obligate (100%) HP:0001310
15 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
16 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
17 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
18 macular degeneration 59 32 occasional (7.5%) Occasional (29-5%) HP:0000608
19 mental deterioration 59 32 occasional (7.5%) Frequent (79-30%) HP:0001268
20 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
21 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
22 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
23 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
24 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
25 cone/cone-rod dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000548
26 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
27 restless legs 59 32 frequent (33%) Frequent (79-30%) HP:0012452
28 hemeralopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012047
29 ataxia 59 Obligate (100%)
30 spasticity 32 HP:0001257
31 tremor 32 very rare (1%) HP:0001337
32 chorea 32 HP:0002072
33 optic atrophy 32 very rare (1%) HP:0000648
34 progressive visual loss 32 HP:0000529
35 reduced visual acuity 59 Frequent (79-30%)
36 ophthalmoparesis 59 Frequent (79-30%)
37 abnormality of extrapyramidal motor function 32 HP:0002071
38 progressive cerebellar ataxia 32 very rare (1%) HP:0002073
39 slow saccadic eye movements 32 HP:0000514
40 supranuclear ophthalmoplegia 32 HP:0000623
41 abnormality of the fundus 59 Frequent (79-30%)
42 pigmentary retinopathy 32 HP:0000580
43 olivopontocerebellar atrophy 32 HP:0002542

UMLS symptoms related to Spinocerebellar Ataxia 7:


abnormal pyramidal signs, abnormality of extrapyramidal motor function, muscle spasticity

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.28 ATXN2 TRRAP
2 Increased Nanog expression GR00371-A-2 9.28 ATXN2 TRRAP
3 Increased Nanog expression GR00371-A-3 9.28 TRRAP
4 Increased Nanog expression GR00371-A-5 9.28 ATXN2 KAT2B TAF9 TRRAP

Drugs & Therapeutics for Spinocerebellar Ataxia 7

Drugs for Spinocerebellar Ataxia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Protective Agents Phase 2, Phase 3
3 Neuroprotective Agents Phase 2, Phase 3
4 Excitatory Amino Acid Antagonists Phase 2, Phase 3
5 Neurotransmitter Agents Phase 2, Phase 3
6 Anticonvulsants Phase 2, Phase 3
7 Excitatory Amino Acids Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Riluzole in Patients With Spinocerebellar Ataxia Type 7 Not yet recruiting NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
2 BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Not yet recruiting NCT03701399 Phase 3 troriluzole;Placebos
3 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
4 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
5 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 7

Genetic Tests for Spinocerebellar Ataxia 7

Genetic tests related to Spinocerebellar Ataxia 7:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 7 29 ATXN7

Anatomical Context for Spinocerebellar Ataxia 7

MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

41
Eye, Cerebellum, Brain, Spinal Cord, Skin, Liver, Heart

Publications for Spinocerebellar Ataxia 7

Articles related to Spinocerebellar Ataxia 7:

(show top 50) (show all 103)
# Title Authors Year
1
Ophthalmic features of spinocerebellar ataxia type 7. ( 28799562 )
2018
2
Lethal form of spinocerebellar ataxia type 7 with early onset in childhood. ( 29248324 )
2018
3
Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. ( 29427104 )
2018
4
Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity. ( 29876803 )
2018
5
Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes. ( 30255962 )
2018
6
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. ( 30381411 )
2018
7
A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population. ( 28597910 )
2017
8
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. ( 28575281 )
2017
9
Spinocerebellar Ataxia Type 7 Sans Retinal Degeneration: A Phenotypic Variability. ( 29184358 )
2017
10
Voice Alterations in Patients With Spinocerebellar Ataxia Type 7 (SCA7): Clinical-Genetic Correlations. ( 26992556 )
2017
11
Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families. ( 29214039 )
2017
12
Parkinsonism in Spinocerebellar ataxia type 7. ( 27206895 )
2016
13
RETINAL MANIFESTATIONS OF SPINOCEREBELLAR ATAXIA TYPE 7 IN TWO CONSECUTIVE GENERATIONS. ( 27632585 )
2016
14
MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION. ( 26584329 )
2016
15
Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7. ( 25917872 )
2016
16
Spinocerebellar ataxia type-7: Report of a family in Northwest Nigeria. ( 27044733 )
2016
17
Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy. ( 27245542 )
2016
18
Ataxia Severity Correlates with White Matter Degeneration in Spinocerebellar Ataxia Type 7. ( 27516240 )
2016
19
1264: FAMILIAL SPINOCEREBELLAR ATAXIA TYPE 7: A NEW INFANTILE PRESENTATION WITH COARCTATION OF AORTA. ( 26570925 )
2015
20
Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias. ( 25608122 )
2015
21
Spinocerebellar ataxia type 7: a neurodegenerative disorder with peripheral neuropathy. ( 25614072 )
2015
22
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population. ( 25900954 )
2015
23
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. ( 25506882 )
2015
24
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. ( 25643591 )
2015
25
Infantile spinocerebellar ataxia type 7: Case report and a review of the literature. ( 25972113 )
2015
26
Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7. ( 26003224 )
2015
27
Olfactory performance in spinocerebellar ataxia type 7 patients. ( 24629799 )
2014
28
Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families. ( 24883214 )
2014
29
RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration. ( 24759684 )
2014
30
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7. ( 25318446 )
2014
31
Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. ( 24390202 )
2014
32
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. ( 25664129 )
2014
33
Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7. ( 25054097 )
2014
34
Whole-brain connectivity analysis and classification of spinocerebellar ataxia type 7 by functional MRI. ( 26331026 )
2014
35
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. ( 24374739 )
2013
36
Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. ( 23828024 )
2013
37
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). ( 23418007 )
2013
38
Spinocerebellar ataxia type 7: Report of an Indian family. ( 24339617 )
2013
39
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. ( 22915085 )
2013
40
Circumscribed outer foveolar defects in spinocerebellar ataxia type 7. ( 25391128 )
2013
41
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model. ( 24160175 )
2013
42
Disruption of visual and motor connectivity in spinocerebellar ataxia type 7. ( 23926060 )
2013
43
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. ( 23236151 )
2012
44
Spinocerebellar ataxia type 7. ( 21827908 )
2012
45
Spinocerebellar ataxia type 7: report of a new Italian family. ( 23064575 )
2012
46
Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model. ( 22827889 )
2012
47
Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. ( 22426494 )
2012
48
Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. ( 22072678 )
2011
49
Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7). ( 20732423 )
2011
50
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. ( 21147232 )
2011

Variations for Spinocerebellar Ataxia 7

ClinVar genetic disease variations for Spinocerebellar Ataxia 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN7 NG_008227.1: g.53130CAG[(38_130)] NT expansion Pathogenic

Expression for Spinocerebellar Ataxia 7

Search GEO for disease gene expression data for Spinocerebellar Ataxia 7.

Pathways for Spinocerebellar Ataxia 7

Pathways related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 ATXN7 KAT2B TRRAP
2
Show member pathways
12.1 ATXN7 KAT2B TAF9 TRRAP
3 11.17 TAF9 TRRAP
4 11.02 KAT2B TRRAP
5 9.97 TAF9 TRRAP

GO Terms for Spinocerebellar Ataxia 7

Cellular components related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SAGA complex GO:0000124 9.26 TAF9 TRRAP
2 transcription factor TFTC complex GO:0033276 9.16 TAF9 TRRAP
3 STAGA complex GO:0030914 8.96 TAF9 TRRAP
4 PCAF complex GO:0000125 8.8 KAT2B TAF9 TRRAP

Biological processes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone acetylation GO:0016573 9.16 KAT2B TRRAP
2 histone H3 acetylation GO:0043966 8.96 KAT2B TAF9
3 histone deubiquitination GO:0016578 8.62 ATXN7 TRRAP

Molecular functions related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coregulator activity GO:0003712 8.96 KAT2B TRRAP
2 histone acetyltransferase activity GO:0004402 8.62 KAT2B TAF9

Sources for Spinocerebellar Ataxia 7

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7 CNVD
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11 DGIdb
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19 FMA
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30 HGMD
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45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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