FXTAS
MCID: FRG008
MIFTS: 36

Fragile X-Associated Tremor/ataxia Syndrome (FXTAS) malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Fragile X-Associated Tremor/ataxia Syndrome

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Aliases & Descriptions for Fragile X-Associated Tremor/ataxia Syndrome:

Name: Fragile X-Associated Tremor/ataxia Syndrome 11 24 25 13
Fragile X Tremor/ataxia Syndrome 24 25 68
Fxtas 24 25
 
Fragile X-Associated Tremor Ataxia Syndrome 24
Fxtas Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050879

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

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Genetics Home Reference:25 Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.

MalaCards based summary: Fragile X-Associated Tremor/ataxia Syndrome, also known as fragile x tremor/ataxia syndrome, is related to fragile x tremor/ataxia syndrome and ataxia, and has symptoms including ataxia, tremor and myalgia. An important gene associated with Fragile X-Associated Tremor/ataxia Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways is Neuroscience. Affiliated tissues include brain, cerebellum and pituitary.

Disease Ontology:11 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has material basis in expanded trinucleotide repeat of the FMR1 gene that results in a toxic gain of function of FMR1 RNA.

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

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Diseases related to Fragile X-Associated Tremor/ataxia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1fragile x tremor/ataxia syndrome11.3
2ataxia11.1
3tremor11.1
4fragile x syndrome10.5
5dementia10.4
6neuropathy10.3
7multiple system atrophy10.1
8choroiditis10.1
9mood disorder10.1
10axonal neuropathy10.1
11myoclonus10.1
12personality disorder10.1FMR1, GRM5
13y-linked disease10.0FMR1, GRM5
14immunodeficiency, isolated9.9FMR1, GRM5
15hypomyelinating leukoencephalopathy9.1CTC1, DIP2B, FMR1, GRM5, RBMX, SLC30A6
16synucleinopathy8.9CTC1, DIP2B, FMR1, GRM5, RBMX, SLC1A3

Graphical network of diseases related to Fragile X-Associated Tremor/ataxia Syndrome:



Diseases related to fragile x-associated tremor/ataxia syndrome

Symptoms & Phenotypes for Fragile X-Associated Tremor/ataxia Syndrome

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Human phenotypes related to Fragile X-Associated Tremor/ataxia Syndrome:

 64 (show all 29)
id Description HPO Frequency HPO Source Accession
1 depression64 HP:0000716
2 obsessive-compulsive behavior64 HP:0000722
3 dementia64 HP:0000726
4 anxiety64 HP:0000739
5 impotence64 HP:0000802
6 hypothyroidism64 HP:0000821
7 hypertension64 HP:0000822
8 dysarthria64 HP:0001260
9 hyporeflexia64 HP:0001265
10 parkinsonism64 HP:0001300
11 dysmetria64 HP:0001310
12 muscle weakness64 HP:0001324
13 dysphagia64 HP:0002015
14 rigidity64 HP:0002063
15 gait ataxia64 HP:0002066
16 bradykinesia64 HP:0002067
17 intention tremor64 HP:0002080
18 cerebral cortical atrophy64 HP:0002120
19 memory impairment64 HP:0002354
20 abnormality of brainstem morphology64 HP:0002363
21 dysautonomia64 HP:0002459
22 bowel incontinence64 HP:0002607
23 hypotension64 HP:0002615
24 urinary bladder sphincter dysfunction64 HP:0002839
25 myalgia64 HP:0003326
26 dysesthesia64 HP:0012534
27 inertia64 HP:0030216
28 diffuse cerebellar atrophy64 HP:0100275
29 pollakisuria64 HP:0100515

UMLS symptoms related to Fragile X-Associated Tremor/ataxia Syndrome:


ataxia, tremor, myalgia, bradykinesia, action tremor, static tremor, dysdiadochokinesis, gait ataxia, lower extremity numbness, paresthesia lower limb

Drugs & Therapeutics for Fragile X-Associated Tremor/ataxia Syndrome

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Drugs for Fragile X-Associated Tremor/ataxia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PregnanolonePhase 220128-20-131402
Synonyms:
(3a,5b)-3-Hydroxypregnan-20-one
(3alpha,5beta)-3-Hydroxypregnan-20-one
(3α,5β)-3-hydroxypregnan-20-one
3 Hydroxypregnan 20 one
3 alpha Hydroxy 5 alpha pregnan 20 one
3 alpha Hydroxy 5 beta pregnan 20 one
3 alpha, 5 beta Tetrahydroprogesterone
3 alpha, 5 beta-Tetrahydroprogesterone
3 alpha-Hydroxy-5 alpha-pregnan-20-one
3 alpha-Hydroxy-5 beta-pregnan-20-one
3-Hydroxypregnan-20-one
3a-Hydroxy-5b-pregnan-20-one
3a-Hydroxy-5b-pregnane-20-one
3alpha-Hydroxy-5beta-pregnane-20-one
3beta Hydroxy 5alpha pregnan 20 one
3beta-Hydroxy-5alpha-pregnan-20-one
3α-hydroxy-5β-pregnan-20-one
3α-hydroxy-5β-pregnane-20-one
Allopregnan 3 beta ol 20 one
Allopregnan-3 beta-ol-20-one
Allopregnanolone
Eltanolona
Eltanolone
 
Eltanolonum
Epipregnanolone
Pregnan 3alpha ol 20 one
Pregnan-3a-ol-20-one
Pregnan-3alpha-ol-20-one
Pregnan-3α-ol-20-one
Pregnanolone
Pregnanolone, (3alpha)-isomer
Pregnanolone, (3alpha, 5beta, 17-alpha)-isomer
Pregnanolone, (3alpha,5alpha)-isomer
Pregnanolone, (3alpha,5beta)-isomer
Pregnanolone, (3beta)-isomer
Pregnanolone, (3beta, 5alpha)-isomer
Pregnanolone, (3beta, 5alpha, 17alpha)-isomer
Pregnanolone, (3beta, 5alpha, 8alpha, 17beta)-isomer
Pregnanolone, (3beta, 5beta)-isomer
Pregnanolone, (3beta, 5beta, 17alpha)-isomer
Pregnanolone, (3beta, 5beta,14beta)-isomer
Pregnanolone, (5alpha)-isomer
Sepranolone
alpha-Hydroxy-5 alpha-pregnan-20-one, 3
alpha-Hydroxy-5 beta-pregnan-20-one, 3
alpha-Pregnan-20-one, 3 alpha-hydroxy-5
beta-Ol-20-one, allopregnan-3
beta-Pregnan-20-one, 3 alpha-hydroxy-5
2Central Nervous System DepressantsPhase 213403
3AnestheticsPhase 29596
4
Memantineapproved, investigational18119982-08-24054
Synonyms:
1,3-Dimethyl-5-adamantanamine
1-Amino-3,5-dimethyladamantane
19982-08-2
3,5-Dimethyl-1-adamantanamine
3,5-Dimethyl-1-adamantylamine
3,5-Dimethyl-1-aminoadamantane
3,5-Dimethyladamantan-1-ylamine
3,5-Dimethyltricyclo(3.3.1.1(3,7))decan-1-amine
3,5-dimethyladamantan-1-amine
3,5-dimethyltricyclo[3.3.1.1~3,7~]decan-1-amine
41100-52-1 (Hydrochloride)
51052-62-1
AB00053600
AC1L1HB7
AKOS000113995
BBL000737
BPBio1_001117
BPBio1_001270
BSPBio_001015
Biomol-NT_000209
C13736
CBMicro_020348
CHEBI:152523
CHEMBL807
CID4054
D08174
DB01043
DMAA
DivK1c_000068
EU-0053634
Ebixa
Exiba
Exiba (TN)
HMS500D10
HSDB 7327
IDI1_000068
KBio1_000068
KBio2_001087
KBio2_003655
 
KBio2_006223
KBio3_001926
KBioGR_001543
KBioSS_001087
LS-157051
Lopac0_000861
Memantin
Memantina
Memantina [INN-Spanish]
Memantine
Memantine (INN)
Memantine HCL
Memantine Hydrochloride
Memantine [INN:BAN]
Memantine [INN]
Memantinum
Memantinum [INN-Latin]
MolPort-002-041-858
NCGC00015705-05
NCGC00024782-02
NCGC00024782-03
NINDS_000068
Namenda
Oprea1_480562
Prestwick0_000978
Prestwick1_000978
Prestwick2_000978
Prestwick3_000978
SPBio_001456
SPBio_002926
ST057652
STK520682
Spectrum2_001408
Spectrum3_000923
Spectrum4_001022
Spectrum5_001355
Spectrum_000607
UNII-W8O17SJF3T
ZERO/006024
memantine
5
Dopamineapproved383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
6Neurotransmitter Agents18340
7Antiparkinson Agents1574
8Excitatory Amino Acids1362
9Excitatory Amino Acid Antagonists1347
10Dopamine Agents3836

Interventional clinical trials:

idNameStatusNCT IDPhase
1Citocoline for Treatment of FXTASUnknown statusNCT02197104Phase 2
2Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With AllopregnanoloneEnrolling by invitationNCT02603926Phase 2
3Memantine Treatment in Fragile X-Associated Tremor/Ataxia SyndromeCompletedNCT00584948
4Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
5Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246
6Brain Network Activation and Gait and Posture in FXTASNot yet recruitingNCT02936531

Search NIH Clinical Center for Fragile X-Associated Tremor/ataxia Syndrome

Genetic Tests for Fragile X-Associated Tremor/ataxia Syndrome

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Genetic tests related to Fragile X-Associated Tremor/ataxia Syndrome:

id Genetic test Affiliating Genes
1 Fragile X-Associated Tremor/ataxia Syndrome24 FMR1

Anatomical Context for Fragile X-Associated Tremor/ataxia Syndrome

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MalaCards organs/tissues related to Fragile X-Associated Tremor/ataxia Syndrome:

36
Brain, Cerebellum, Pituitary, Hypothalamus, Adrenal gland, Testes

Publications for Fragile X-Associated Tremor/ataxia Syndrome

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Articles related to Fragile X-Associated Tremor/ataxia Syndrome:

(show top 50)    (show all 131)
idTitleAuthorsYear
1
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. (27277287)
2016
2
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. (27355274)
2016
3
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. (26609701)
2016
4
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. (27375149)
2016
5
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. (27340021)
2016
6
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. (27255703)
2016
7
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. (27647792)
2016
8
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome? (27355912)
2016
9
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. (27355575)
2016
10
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. (26898832)
2016
11
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. (27414076)
2016
12
Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome. (27089882)
2016
13
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. (27602566)
2016
14
MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. (27440151)
2016
15
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome. (25577024)
2015
16
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). (25763861)
2015
17
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. (26368352)
2015
18
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. (25920745)
2015
19
Fragile X-associated tremor/ataxia syndrome. (25622649)
2015
20
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. (25498860)
2015
21
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. (25954027)
2015
22
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). (25488474)
2015
23
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. (26298472)
2015
24
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. (26439425)
2015
25
ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI. (25111034)
2014
26
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. (25388402)
2014
27
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. (25136376)
2014
28
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. (24871547)
2014
29
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. (24108107)
2014
30
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. (24491663)
2014
31
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. (25471011)
2014
32
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. (25606360)
2014
33
Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome. (24528808)
2014
34
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. (24005575)
2014
35
Pathological crying associated with fragile X-associated tremor/ataxia syndrome. (26037874)
2014
36
Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome. (24299169)
2014
37
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. (25161746)
2014
38
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. (25368631)
2014
39
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. (22568721)
2013
40
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (22918986)
2013
41
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. (23478018)
2013
42
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. (23867198)
2013
43
Which Approach is Better: Bilateral Versus Unilateral Thalamic Deep Brain Stimulation in Patients with Fragile X-Associated Tremor Ataxia Syndrome. (24122741)
2013
44
Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial. (24345444)
2013
45
Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome. (23889896)
2013
46
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. (23793382)
2013
47
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome. (24332449)
2013
48
Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome. (24176424)
2013
49
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. (23298734)
2013
50
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. (23009394)
2013

Variations for Fragile X-Associated Tremor/ataxia Syndrome

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Expression for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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Search GEO for disease gene expression data for Fragile X-Associated Tremor/ataxia Syndrome.

Pathways for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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Pathways related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2FMR1, GRM5, SLC1A3

GO Terms for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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Cellular components related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430059.7FMR1, GRM5, SLC1A3
2presynaptic membraneGO:00427349.7FMR1, GRM5

Biological processes related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of alternative mRNA splicing, via spliceosomeGO:00003819.6FMR1, RBMX

Molecular functions related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mRNA bindingGO:00037299.6FMR1, RBMX

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet