SCA27
MCID: SPN100
MIFTS: 41

Spinocerebellar Ataxia 27 (SCA27)

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

Aliases & Classifications for Spinocerebellar Ataxia 27

MalaCards integrated aliases for Spinocerebellar Ataxia 27:

Name: Spinocerebellar Ataxia 27 56 52 73 13 71
Spinocerebellar Ataxia Type 27 12 52 58 29 6 15
Sca27 56 52 58 73
Cerebellar Ataxia Autosomal Dominant Fgf14-Related 52 73
Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related 56
Ataxia, Spinocerebellar, Type 27 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 27
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in late-childhood to early adulthood (12 to 20 years)
genetic heterogeneity (see sca1, )


HPO:

31
spinocerebellar ataxia 27:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050976
OMIM 56 609307
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
MESH via Orphanet 44 C537204
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1836383
Orphanet 58 ORPHA98764
MedGen 41 C1836383
UMLS 71 C1836383

Summaries for Spinocerebellar Ataxia 27

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98764 Definition Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. Epidemiology Fewer than 30 cases have been reported to date. Etiology This subtype is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis Prognosis is relatively good. Patients can walk unassisted until the 7th decade of life. Life-threatening status epilepticus and intractable seizure or severe dysphagia are rare. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 27, also known as spinocerebellar ataxia type 27, is related to paroxysmal dyskinesia and episodic ataxia, and has symptoms including gait ataxia, memory loss and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 27 is FGF14 (Fibroblast Growth Factor 14), and among its related pathways/superpathways are Cardiac conduction and Phase 0 - rapid depolarisation. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and gaze-evoked nystagmus

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has material basis in mutation in the FGF14 gene.

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 27: 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. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.

More information from OMIM: 609307 PS164400

Related Diseases for Spinocerebellar Ataxia 27

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 paroxysmal dyskinesia 30.0 SCN8A FGF14
2 episodic ataxia 29.6 SCN8A FGF14
3 spinocerebellar ataxia, autosomal recessive 27 11.6
4 ataxia and polyneuropathy, adult-onset 10.4
5 autosomal dominant cerebellar ataxia 10.4
6 tremor 10.2
7 spinocerebellar ataxia 4 10.2
8 hereditary ataxia 10.2
9 microcephaly 10.2
10 familial paroxysmal nonkinesigenic dyskinesia 10.1
11 dentatorubral-pallidoluysian atrophy 10.1
12 attention deficit-hyperactivity disorder 10.1
13 alacrima, achalasia, and mental retardation syndrome 10.1
14 psychotic disorder 10.1
15 pathologic nystagmus 10.1
16 spinocerebellar ataxia 25 9.7 TMEM240 FGF14
17 spinocerebellar ataxia 21 9.6 TMEM240 FGF14
18 epileptic encephalopathy, early infantile, 6 9.5 SCN8A FGF14

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 27:



Diseases related to Spinocerebellar Ataxia 27

Symptoms & Phenotypes for Spinocerebellar Ataxia 27

Human phenotypes related to Spinocerebellar Ataxia 27:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 very rare (1%) Very frequent (99-80%) HP:0001260
2 gaze-evoked nystagmus 58 31 very rare (1%) Very frequent (99-80%) HP:0000640
3 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
4 pes cavus 58 31 very rare (1%) Frequent (79-30%) HP:0001761
5 gait ataxia 58 31 very rare (1%) Frequent (79-30%) HP:0002066
6 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
7 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
8 limb ataxia 58 31 very rare (1%) Frequent (79-30%) HP:0002070
9 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
10 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
11 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
12 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
13 depressivity 58 31 very rare (1%) Occasional (29-5%) HP:0000716
14 cerebellar atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0001272
15 hand tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002378
16 red-green dyschromatopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000642
17 dysgraphia 58 31 very rare (1%) Very rare (<4-1%) HP:0010526
18 akinesia 58 31 very rare (1%) Very rare (<4-1%) HP:0002304
19 impaired vibratory sensation 31 very rare (1%) HP:0002495
20 orofacial dyskinesia 31 very rare (1%) HP:0002310
21 postural tremor 31 very rare (1%) HP:0002174
22 gait disturbance 58 Frequent (79-30%)
23 tremor 58 Very frequent (99-80%)
24 head tremor 31 HP:0002346
25 dysmetric saccades 31 HP:0000641
26 impaired smooth pursuit 31 HP:0007772

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
strabismus
dysmetric saccades
gaze-evoked nystagmus
disrupted ocular pursuit movements
red-blind color blindness (reported in 1 patient)

Skeletal Feet:
pes cavus

Head And Neck Face:
orofacial dyskinesias

Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
truncal ataxia
more
Neurologic Behavioral Psychiatric Manifestations:
depression
aggressive outbursts

Neurologic Peripheral Nervous System:
sensory axonal neuropathy, mild

Clinical features from OMIM:

609307

UMLS symptoms related to Spinocerebellar Ataxia 27:


gait ataxia, memory loss, cerebellar ataxia, ataxia, truncal

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 27:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 CPNE6 FGF11 FGF14 SCN8A TMEM240 TPPP

Drugs & Therapeutics for Spinocerebellar Ataxia 27

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 27

Genetic Tests for Spinocerebellar Ataxia 27

Genetic tests related to Spinocerebellar Ataxia 27:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 27 29 FGF14

Anatomical Context for Spinocerebellar Ataxia 27

MalaCards organs/tissues related to Spinocerebellar Ataxia 27:

40
Eye, Cerebellum, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 27

Articles related to Spinocerebellar Ataxia 27:

(show all 22)
# Title Authors PMID Year
1
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. 56 6 61
30017992 2019
2
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. 56 6
15470364 2005
3
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. 56 6
12489043 2003
4
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
5
SCA27 caused by a chromosome translocation: further delineation of the phenotype. 56
19471976 2009
6
Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. 56
12123606 2002
7
Hereditary Ataxia Overview 6
20301317 1998
8
Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32437512 2020
9
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32428197 2020
10
A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study. 61
32157568 2020
11
Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27. 61
32112487 2020
12
High-throughput screening against protein:protein interaction interfaces reveals anti-cancer therapeutics as potent modulators of the voltage-gated Na+ channel complex. 61
31729429 2019
13
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. 61
30607796 2019
14
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. 61
29416937 2018
15
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. 61
28192817 2017
16
[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene]. 61
26916329 2016
17
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. 61
25566820 2015
18
Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. 61
26089778 2015
19
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. 61
24252256 2014
20
FGF14 regulates presynaptic Ca2+ channels and synaptic transmission. 61
23831029 2013
21
Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population. 61
22579694 2012
22
Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14. 61
17236779 2007

Variations for Spinocerebellar Ataxia 27

ClinVar genetic disease variations for Spinocerebellar Ataxia 27:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGF14 NM_175929.2(FGF14):c.544A>T (p.Lys182Ter)SNV Pathogenic 489406 rs1555370787 13:102379040-102379040 13:101726690-101726690
2 FGF14 NM_004115.3(FGF14):c.434T>C (p.Phe145Ser)SNV Pathogenic 8115 rs104894393 13:102379135-102379135 13:101726785-101726785
3 FGF14 NM_004115.3(FGF14):c.487del (p.Arg163fs)deletion Pathogenic 8116 rs587776685 13:102379082-102379082 13:101726732-101726732
4 FGF14 , MIR2681 deletion Likely pathogenic 560058 13:102398697-102650571 13:101746347-101998221
5 FGF14 NM_004115.3(FGF14):c.*974G>ASNV Uncertain significance 310876 rs886049934 13:102374207-102374207 13:101721857-101721857
6 FGF14 NM_001321931.1(FGF14):c.400G>T (p.Val134Phe)SNV Uncertain significance 873432 13:102375273-102375273 13:101722923-101722923
7 FGF14 NM_001321931.1(FGF14):c.*1948C>TSNV Uncertain significance 880904 13:102373233-102373233 13:101720883-101720883
8 FGF14 NM_001321931.1(FGF14):c.*1918T>CSNV Uncertain significance 880905 13:102373263-102373263 13:101720913-101720913
9 FGF14 NM_001321931.1(FGF14):c.*1772C>ASNV Uncertain significance 880906 13:102373409-102373409 13:101721059-101721059
10 FGF14 NM_001321931.1(FGF14):c.*1296A>CSNV Uncertain significance 882269 13:102373885-102373885 13:101721535-101721535
11 FGF14 NM_001321931.1(FGF14):c.*1251G>ASNV Uncertain significance 882270 13:102373930-102373930 13:101721580-101721580
12 FGF14 NM_001321931.1(FGF14):c.*1199A>GSNV Uncertain significance 882540 13:102373982-102373982 13:101721632-101721632
13 FGF14 NM_001321931.1(FGF14):c.*863G>CSNV Uncertain significance 882541 13:102374318-102374318 13:101721968-101721968
14 FGF14 NM_001321931.1(FGF14):c.*699T>CSNV Uncertain significance 883322 13:102374482-102374482 13:101722132-101722132
15 FGF14 NM_001321931.1(FGF14):c.*658T>GSNV Uncertain significance 883323 13:102374523-102374523 13:101722173-101722173
16 FGF14 NM_001321931.1(FGF14):c.*553C>TSNV Uncertain significance 883324 13:102374628-102374628 13:101722278-101722278
17 FGF14 NM_001321931.1(FGF14):c.*535G>TSNV Uncertain significance 880959 13:102374646-102374646 13:101722296-101722296
18 FGF14 NM_001321931.1(FGF14):c.*369A>GSNV Uncertain significance 880960 13:102374812-102374812 13:101722462-101722462
19 FGF14 NM_001321931.1(FGF14):c.*361C>TSNV Uncertain significance 880961 13:102374820-102374820 13:101722470-101722470
20 FGF14 NM_004115.3(FGF14):c.*1072G>ASNV Uncertain significance 310871 rs886049932 13:102374109-102374109 13:101721759-101721759
21 FGF14 NM_004115.3(FGF14):c.*1071C>TSNV Uncertain significance 310872 rs886049933 13:102374110-102374110 13:101721760-101721760
22 FGF14 NM_004115.3(FGF14):c.*783C>GSNV Uncertain significance 310882 rs886049935 13:102374398-102374398 13:101722048-101722048
23 FGF14 NM_004115.3(FGF14):c.620G>A (p.Arg207Gln)SNV Uncertain significance 310897 rs760595879 13:102375305-102375305 13:101722955-101722955
24 FGF14 NM_004115.3(FGF14):c.*993C>TSNV Uncertain significance 310875 rs752896423 13:102374188-102374188 13:101721838-101721838
25 FGF14 NM_004115.3(FGF14):c.*777C>ASNV Uncertain significance 310883 rs886049936 13:102374404-102374404 13:101722054-101722054
26 FGF14 NM_004115.3(FGF14):c.*414T>CSNV Uncertain significance 310888 rs557390242 13:102374767-102374767 13:101722417-101722417
27 FGF14 NM_004115.3(FGF14):c.*1761G>CSNV Uncertain significance 310860 rs886049931 13:102373420-102373420 13:101721070-101721070
28 FGF14 NM_004115.3(FGF14):c.651G>A (p.Thr217=)SNV Uncertain significance 310895 rs151325645 13:102375274-102375274 13:101722924-101722924
29 FGF14 NM_004115.3(FGF14):c.664G>A (p.Gly222Arg)SNV Uncertain significance 310894 rs886049938 13:102375261-102375261 13:101722911-101722911
30 FGF14 NM_004115.3(FGF14):c.477C>T (p.Ser159=)SNV Uncertain significance 310900 rs776794756 13:102379092-102379092 13:101726742-101726742
31 FGF14 NM_004115.3(FGF14):c.384T>C (p.Asn128=)SNV Likely benign 310901 rs41281646 13:102521099-102521099 13:101868749-101868749
32 FGF14 NM_004115.3(FGF14):c.*1118G>ASNV Likely benign 310870 rs147404825 13:102374063-102374063 13:101721713-101721713
33 FGF14 NM_004115.3(FGF14):c.*1259C>TSNV Likely benign 310868 rs535930764 13:102373922-102373922 13:101721572-101721572
34 FGF14 NM_004115.3(FGF14):c.*1741T>CSNV Likely benign 310861 rs529644559 13:102373440-102373440 13:101721090-101721090
35 FGF14 NM_001321939.1(FGF14):c.209-6401C>TSNV Likely benign 882586 13:102527579-102527579 13:101875229-101875229
36 FGF14 NM_004115.3(FGF14):c.123C>T (p.Asn41=)SNV Benign/Likely benign 447324 rs372705140 13:102568873-102568873 13:101916523-101916523
37 FGF14 NM_004115.3(FGF14):c.636T>C (p.His212=)SNV Benign/Likely benign 310896 rs41281644 13:102375289-102375289 13:101722939-101722939
38 FGF14 NM_004115.3(FGF14):c.124G>T (p.Gly42Cys)SNV Benign/Likely benign 310902 rs141304687 13:102568872-102568872 13:101916522-101916522
39 FGF14 NM_004115.3(FGF14):c.481T>C (p.Leu161=)SNV Benign 310899 rs77082831 13:102379088-102379088 13:101726738-101726738
40 FGF14 NM_004115.3(FGF14):c.*744C>ASNV Benign 310884 rs79379700 13:102374437-102374437 13:101722087-101722087
41 FGF14 NM_004115.3(FGF14):c.468C>T (p.Ile156=)SNV Benign 790870 13:102379101-102379101 13:101726751-101726751
42 FGF14 NM_004115.3(FGF14):c.*1063G>ASNV Benign 310874 rs58555898 13:102374118-102374118 13:101721768-101721768
43 FGF14 NM_004115.3(FGF14):c.*1618T>ASNV Benign 310863 rs15608 13:102373563-102373563 13:101721213-101721213
44 FGF14 NM_004115.3(FGF14):c.*1612G>TSNV Benign 310865 rs1046197 13:102373569-102373569 13:101721219-101721219
45 FGF14 NM_004115.3(FGF14):c.608-10C>TSNV Benign 310898 rs574476283 13:102375327-102375327 13:101722977-101722977
46 FGF14 NM_004115.3(FGF14):c.*176C>GSNV Benign 310890 rs191705440 13:102375005-102375005 13:101722655-101722655
47 FGF14 NM_004115.3(FGF14):c.*567G>CSNV Benign 310885 rs546536488 13:102374614-102374614 13:101722264-101722264
48 FGF14 NM_004115.3(FGF14):c.*554G>ASNV Benign 310886 rs141793298 13:102374627-102374627 13:101722277-101722277
49 FGF14 NM_004115.3(FGF14):c.*471A>CSNV Benign 310887 rs75498912 13:102374710-102374710 13:101722360-101722360
50 FGF14 NM_004115.3(FGF14):c.*31G>ASNV Benign 310892 rs149661933 13:102375150-102375150 13:101722800-101722800

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 27:

73
# Symbol AA change Variation ID SNP ID
1 FGF14 p.Phe145Ser VAR_022736 rs104894393

Expression for Spinocerebellar Ataxia 27

Search GEO for disease gene expression data for Spinocerebellar Ataxia 27.

Pathways for Spinocerebellar Ataxia 27

GO Terms for Spinocerebellar Ataxia 27

Biological processes related to Spinocerebellar Ataxia 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.92 SCN8A FGF14 FGF11 CPNE6

Sources for Spinocerebellar Ataxia 27

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