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DYT6
MCID: DYS067
MIFTS: 37

Dystonia 6, Torsion (DYT6)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Dystonia 6, Torsion

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MalaCards integrated aliases for Dystonia 6, Torsion:

Name: Dystonia 6, Torsion 57 72 13 70
Torsion Dystonia 6 12 29 6 15
Dyt6 57 58 72
Generalized Cervical and Upper-Limb-Onset Dystonia 58
Torsion Dystonia, Adult-Onset, Mixed Type 57
Idiopathic Torsion Dystonia of Mixed Type 58
Adult-Onset Torsion Dystonia Mixed Type 72
Autosomal Dominant Torsion Dystonia 6 72
Primary Dystonia, Dyt6 Type 58
Dystonia, Type 6, Torsion 39
Torsion Dystonia Type 6 72
Dystonia-6 72

Characteristics:

Orphanet epidemiological data:

58
primary dystonia, dyt6 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable distribution, may be focal, segmental, multifocal, or generalized
average age at onset 19 years (range 5 to 38)
often presents with cranial or cervical involvement
reduced penetrance (about 60%)


HPO:

31
dystonia 6, torsion:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090039
OMIM® 57 602629
OMIM Phenotypic Series 57 PS128100
MeSH 44 D004421
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 71 C1414216
Orphanet 58 ORPHA98806
MedGen 41 C1414216
UMLS 70 C1414216
Sources

Summaries for Dystonia 6, Torsion

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UniProtKB/Swiss-Prot : 72 Dystonia 6, torsion: A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.

MalaCards based summary : Dystonia 6, Torsion, also known as torsion dystonia 6, is related to dystonia 1, torsion, autosomal dominant and focal dystonia, and has symptoms including torticollis and lingual dystonia. An important gene associated with Dystonia 6, Torsion is THAP1 (THAP Domain Containing 1). Affiliated tissues include tongue and brain, and related phenotypes are myoclonus and dysarthria

Disease Ontology : 12 A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.

OMIM® : 57 Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene. (602629) (Updated 05-Apr-2021)

Sources

Related Diseases for Dystonia 6, Torsion

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Diseases in the Torsion Dystonia with Onset in Infancy family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Dystonia 7, Torsion
Dystonia 6, Torsion Dystonia 13, Torsion, Autosomal Dominant
Dystonia 17, Torsion, Autosomal Recessive Torsion Dystonia 2
Torsion Dystonia 4 Torsion Dystonia 17

Diseases related to Dystonia 6, Torsion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 30.4 THAP1 CIZ1
2 focal dystonia 29.9 THAP1 CIZ1
3 spasmodic dystonia 29.8 THAP1 CIZ1
4 segmental dystonia 29.7 THAP1 CIZ1
5 oromandibular dystonia 29.7 THAP1 CIZ1
6 dystonia 12 29.5 THAP1 CIZ1
7 cervical dystonia 29.4 THAP1 CIZ1
8 movement disease 29.1 THAP1 CIZ1
9 dyt-thap1 11.3
10 spasmodic dysphonia 10.1
11 isolated dystonia 10.1
12 dystonia 3, torsion, x-linked 10.0
13 parkinsonism 10.0
14 dyt-gnal 10.0
15 hereditary dystonia 10.0
16 tremor 10.0
17 dystonia 10.0
18 multifocal dystonia 9.9 THAP1 CIZ1
19 dystonia 4, torsion, autosomal dominant 9.8
20 dystonia 7, torsion 9.8
21 dystonia 13, torsion, autosomal dominant 9.8
22 dystonia 17, torsion, autosomal recessive 9.8
23 heart and brain malformation syndrome 9.8
24 chorea, childhood-onset, with psychomotor retardation 9.8
25 focal hand dystonia 9.8
26 choreatic disease 9.8
27 torsion dystonia 2 9.8 THAP1 CIZ1
28 torsion dystonia 4 9.8 THAP1 CIZ1
29 dystonia 25 9.8 THAP1 CIZ1
30 blepharospasm 9.8 THAP1 CIZ1
31 benign familial infantile epilepsy 9.7 THAP1 CIZ1
32 alternating hemiplegia of childhood 9.7 THAP1 CIZ1

Graphical network of the top 20 diseases related to Dystonia 6, Torsion:



Diseases related to Dystonia 6, Torsion
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Symptoms & Phenotypes for Dystonia 6, Torsion

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Human phenotypes related to Dystonia 6, Torsion:

31 58 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 31 occasional (7.5%) HP:0001336
2 dysarthria 58 31 Frequent (79-30%) HP:0001260
3 torticollis 58 31 Occasional (29-5%) HP:0000473
4 limb dystonia 58 31 Very rare (<4-1%) HP:0002451
5 laryngeal dystonia 58 31 Occasional (29-5%) HP:0012049
6 lingual dystonia 58 31 Occasional (29-5%) HP:0031008
7 dysphonia 31 HP:0001618
8 dystonia 58 Very frequent (99-80%)
9 blepharospasm 58 Occasional (29-5%)
10 generalized dystonia 58 Very frequent (99-80%)
11 torsion dystonia 31 HP:0001304
12 writer's cramp 31 HP:0002356
13 craniofacial dystonia 58 Occasional (29-5%)
14 abnormality of the head 31 HP:0000234
15 oromandibular dystonia 31 HP:0012048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
dysphonia
torsion dystonia
writer's cramp
dystonia, trunk and limbs (upper and lower)
more
Respiratory Larynx:
laryngeal dystonia

Head And Neck Head:
cranial dystonia

Skeletal Limbs:
dystonia, upper and lower limbs

Head And Neck Neck:
torticollis

Head And Neck Face:
facial dystonia
jaw dystonia

Head And Neck Mouth:
tongue dystonia

Clinical features from OMIM®:

602629 (Updated 05-Apr-2021)

UMLS symptoms related to Dystonia 6, Torsion:


torticollis; lingual dystonia
Sources

Drugs & Therapeutics for Dystonia 6, Torsion

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Search Clinical Trials , NIH Clinical Center for Dystonia 6, Torsion

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Genetic Tests for Dystonia 6, Torsion

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Genetic tests related to Dystonia 6, Torsion:

# Genetic test Affiliating Genes
1 Torsion Dystonia 6 29 THAP1
Sources

Anatomical Context for Dystonia 6, Torsion

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MalaCards organs/tissues related to Dystonia 6, Torsion:

40
Tongue, Brain
Sources

Publications for Dystonia 6, Torsion

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Articles related to Dystonia 6, Torsion:

(show all 28)
# Title Authors PMID Year
1
Identification and functional analysis of novel THAP1 mutations. 57 6
21847143 2012
2
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. 57 6
21110056 2011
3
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 57 6
20211909 2010
4
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 6 57
19345147 2009
5
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. 6 57
19345148 2009
6
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 6 57
19182804 2009
7
Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia. 6
29520331 2018
8
DYT6 Dystonia: A Neuropathological Study. 6
26610312 2016
9
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 6
26486352 2015
10
Persistent chorea in DYT6, due to anticholinergic therapy. 6
26275586 2015
11
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. 6
25088175 2014
12
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 6
24976531 2014
13
Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1. 6
22844099 2012
14
Mutational screening of THAP1 in a German population with primary dystonia. 6
21782490 2012
15
Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers. 6
23439738 2012
16
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. 57
21793105 2011
17
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 6
21839475 2011
18
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. 6
21520283 2011
19
Truncating mutations in THAP1 define the nuclear localization signal. 6
21495072 2011
20
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. 6
20865765 2010
21
Novel THAP1 sequence variants in primary dystonia. 57
20083799 2010
22
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 6
19908320 2009
23
Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. 57
19528516 2009
24
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. 57
17702011 2007
25
Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. 57
15111678 2004
26
Clinical and molecular genetics of primary dystonias. 57
10737119 1998
27
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. 57
9382482 1997
28
Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. 61
22821615 2012
Sources

Variations for Dystonia 6, Torsion

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ClinVar genetic disease variations for Dystonia 6, Torsion:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134 Indel Pathogenic 1645 GRCh37:
GRCh38:
2 THAP1 NM_018105.3(THAP1):c.460del (p.Gln154fs) Deletion Pathogenic 1647 rs1586456293 GRCh37: 8:42693287-42693287
GRCh38: 8:42838144-42838144
3 THAP1 NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) SNV Pathogenic 1648 rs267607111 GRCh37: 8:42694330-42694330
GRCh38: 8:42839187-42839187
4 THAP1 NM_018105.3(THAP1):c.384_385TC[2] (p.Val131fs) Microsatellite Pathogenic 1649 rs1586456350 GRCh37: 8:42693358-42693359
GRCh38: 8:42838215-42838216
5 THAP1 NM_018105.3(THAP1):c.474del (p.Lys158fs) Deletion Pathogenic 1650 rs1586456278 GRCh37: 8:42693273-42693273
GRCh38: 8:42838130-42838130
6 THAP1 NM_018105.3(THAP1):c.25G>T (p.Gly9Cys) SNV Pathogenic 1651 rs267607112 GRCh37: 8:42698213-42698213
GRCh38: 8:42843070-42843070
7 THAP1 NM_018105.3(THAP1):c.70A>G (p.Lys24Glu) SNV Pathogenic 31631 rs387907176 GRCh37: 8:42698168-42698168
GRCh38: 8:42843025-42843025
8 THAP1 NM_018105.3(THAP1):c.68A>C (p.His23Pro) SNV Pathogenic 31632 rs387907177 GRCh37: 8:42698170-42698170
GRCh38: 8:42843027-42843027
9 THAP1 NM_018105.3(THAP1):c.131del (p.Asn44fs) Deletion Pathogenic 532261 rs1554599712 GRCh37: 8:42694465-42694465
GRCh38: 8:42839322-42839322
10 THAP1 NM_018105.3(THAP1):c.289C>T (p.Gln97Ter) SNV Pathogenic 532262 rs1554599616 GRCh37: 8:42693458-42693458
GRCh38: 8:42838315-42838315
11 THAP1 NM_018105.3(THAP1):c.7C>T (p.Gln3Ter) SNV Pathogenic 532263 rs1554599983 GRCh37: 8:42698231-42698231
GRCh38: 8:42843088-42843088
12 THAP1 NM_018105.3(THAP1):c.305dup (p.Pro103fs) Duplication Pathogenic 568461 rs1563644456 GRCh37: 8:42693441-42693442
GRCh38: 8:42838298-42838299
13 THAP1 NM_018105.3(THAP1):c.201_203CAA[2] (p.Asn69del) Microsatellite Pathogenic 569769 rs1563644810 GRCh37: 8:42694387-42694389
GRCh38: 8:42839244-42839246
14 THAP1 NM_018105.3(THAP1):c.331C>T (p.Gln111Ter) SNV Pathogenic 654563 rs1586456404 GRCh37: 8:42693416-42693416
GRCh38: 8:42838273-42838273
15 THAP1 NM_018105.3(THAP1):c.71del (p.Lys24fs) Deletion Pathogenic 845954 GRCh37: 8:42698167-42698167
GRCh38: 8:42843024-42843024
16 THAP1 NM_018105.2(THAP1):c.270_273delAGAA (p.Glu91Ilefs) Microsatellite Pathogenic 444750 rs749414480 GRCh37: 8:42693474-42693477
GRCh38: 8:42838331-42838334
17 THAP1 NM_018105.3(THAP1):c.135_139delinsGGGTTTA (p.Phe45fs) Indel Pathogenic 817036 rs1586457060 GRCh37: 8:42694457-42694461
GRCh38: 8:42839314-42839318
18 THAP1 NM_018105.3(THAP1):c.112del (p.Ala38fs) Deletion Pathogenic 807516 rs1586457084 GRCh37: 8:42694484-42694484
GRCh38: 8:42839341-42839341
19 THAP1 NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) SNV Likely pathogenic 425441 rs1064797344 GRCh37: 8:42698176-42698176
GRCh38: 8:42843033-42843033
20 THAP1 NM_018105.3(THAP1):c.268-1G>C SNV Likely pathogenic 976034 GRCh37: 8:42693480-42693480
GRCh38: 8:42838337-42838337
21 THAP1 NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) SNV Likely pathogenic 807708 rs1586459413 GRCh37: 8:42698224-42698224
GRCh38: 8:42843081-42843081
22 THAP1 NM_018105.3(THAP1):c.505C>T (p.Arg169Ter) SNV Likely pathogenic 429366 rs1131691345 GRCh37: 8:42693242-42693242
GRCh38: 8:42838099-42838099
23 THAP1 NM_018105.3(THAP1):c.77C>T (p.Pro26Leu) SNV Likely pathogenic 846905 GRCh37: 8:42694519-42694519
GRCh38: 8:42839376-42839376
24 THAP1 NM_018105.3(THAP1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 582441 rs1563646198 GRCh37: 8:42698236-42698236
GRCh38: 8:42843093-42843093
25 THAP1 NM_018105.3(THAP1):c.25G>A (p.Gly9Ser) SNV Likely pathogenic 692056 rs267607112 GRCh37: 8:42698213-42698213
GRCh38: 8:42843070-42843070
26 THAP1 NM_018105.3(THAP1):c.387_399del (p.Ser130fs) Deletion Likely pathogenic 931879 GRCh37: 8:42693348-42693360
GRCh38: 8:42838205-42838217
27 THAP1 NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) SNV Likely pathogenic 964891 GRCh37: 8:42694510-42694510
GRCh38: 8:42839367-42839367
28 THAP1 NM_018105.3(THAP1):c.267+6A>G SNV Conflicting interpretations of pathogenicity 653740 rs373843959 GRCh37: 8:42694323-42694323
GRCh38: 8:42839180-42839180
29 THAP1 NM_018105.3(THAP1):c.268-159A>G SNV Uncertain significance 930300 GRCh37: 8:42693638-42693638
GRCh38: 8:42838495-42838495
30 THAP1 NM_018105.3(THAP1):c.268-53_386del Deletion Uncertain significance 965170 GRCh37: 8:42693361-42693532
GRCh38: 8:42838218-42838389
31 THAP1 NM_018105.3(THAP1):c.-34G>A SNV Uncertain significance 692215 rs573112315 GRCh37: 8:42698271-42698271
GRCh38: 8:42843128-42843128
32 THAP1 NM_018105.3(THAP1):c.*1138T>A SNV Uncertain significance 908574 GRCh37: 8:42691967-42691967
GRCh38: 8:42836824-42836824
33 THAP1 NM_018105.3(THAP1):c.*877A>G SNV Uncertain significance 909431 GRCh37: 8:42692228-42692228
GRCh38: 8:42837085-42837085
34 THAP1 NM_018105.3(THAP1):c.*835A>G SNV Uncertain significance 909432 GRCh37: 8:42692270-42692270
GRCh38: 8:42837127-42837127
35 THAP1 NM_018105.3(THAP1):c.*795A>G SNV Uncertain significance 909433 GRCh37: 8:42692310-42692310
GRCh38: 8:42837167-42837167
36 THAP1 NM_018105.3(THAP1):c.*777A>G SNV Uncertain significance 909434 GRCh37: 8:42692328-42692328
GRCh38: 8:42837185-42837185
37 THAP1 NM_018105.3(THAP1):c.-118G>A SNV Uncertain significance 909497 GRCh37: 8:42698355-42698355
GRCh38: 8:42843212-42843212
38 THAP1 NM_018105.3(THAP1):c.*598A>G SNV Uncertain significance 910380 GRCh37: 8:42692507-42692507
GRCh38: 8:42837364-42837364
39 THAP1 NM_018105.3(THAP1):c.*156A>G SNV Uncertain significance 910381 GRCh37: 8:42692949-42692949
GRCh38: 8:42837806-42837806
40 THAP1 NM_018105.3(THAP1):c.*139A>G SNV Uncertain significance 911592 GRCh37: 8:42692966-42692966
GRCh38: 8:42837823-42837823
41 THAP1 NM_018105.3(THAP1):c.*137C>A SNV Uncertain significance 911593 GRCh37: 8:42692968-42692968
GRCh38: 8:42837825-42837825
42 THAP1 NM_018105.3(THAP1):c.506G>A (p.Arg169Gln) SNV Uncertain significance 521683 rs767519301 GRCh37: 8:42693241-42693241
GRCh38: 8:42838098-42838098
43 THAP1 NM_018105.3(THAP1):c.72-10_72-9delinsGC Indel Uncertain significance 651723 rs1586457124 GRCh37: 8:42694533-42694534
GRCh38: 8:42839390-42839391
44 THAP1 NM_018105.3(THAP1):c.164C>T (p.Ser55Leu) SNV Uncertain significance 661711 rs1586457027 GRCh37: 8:42694432-42694432
GRCh38: 8:42839289-42839289
45 THAP1 NM_018105.3(THAP1):c.403C>T (p.His135Tyr) SNV Uncertain significance 863325 GRCh37: 8:42693344-42693344
GRCh38: 8:42838201-42838201
46 THAP1 NM_018105.3(THAP1):c.140_142CCA[1] (p.Thr48del) Microsatellite Uncertain significance 573861 rs1563644832 GRCh37: 8:42694451-42694453
GRCh38: 8:42839308-42839310
47 THAP1 NM_018105.3(THAP1):c.149A>G (p.Tyr50Cys) SNV Uncertain significance 463441 rs1554599710 GRCh37: 8:42694447-42694447
GRCh38: 8:42839304-42839304
48 THAP1 NM_018105.3(THAP1):c.161G>C (p.Cys54Ser) SNV Uncertain significance 463442 rs1554599707 GRCh37: 8:42694435-42694435
GRCh38: 8:42839292-42839292
49 THAP1 NM_018105.3(THAP1):c.43_45del (p.Asp15del) Deletion Uncertain significance 567899 rs1478723907 GRCh37: 8:42698193-42698195
GRCh38: 8:42843050-42843052
50 THAP1 NM_018105.3(THAP1):c.*1032G>A SNV Uncertain significance 363109 rs886062944 GRCh37: 8:42692073-42692073
GRCh38: 8:42836930-42836930

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 6, Torsion:

72 (show all 45)
# Symbol AA change Variation ID SNP ID
1 THAP1 p.Phe81Leu VAR_054788 rs118204013
2 THAP1 p.Asn12Lys VAR_065880
3 THAP1 p.Ser21Thr VAR_065881
4 THAP1 p.Arg29Pro VAR_065882
5 THAP1 p.Ala39Thr VAR_065883
6 THAP1 p.Thr59Ile VAR_065884
7 THAP1 p.Lys89Arg VAR_065885 rs267607111
8 THAP1 p.Asn136Lys VAR_065886
9 THAP1 p.Cys170Arg VAR_065887
10 THAP1 p.Ser6Phe VAR_066677
11 THAP1 p.Ser6Pro VAR_066678
12 THAP1 p.Tyr8Cys VAR_066679
13 THAP1 p.Gly9Cys VAR_066680 rs267607112
14 THAP1 p.Arg13His VAR_066681
15 THAP1 p.Lys16Glu VAR_066682
16 THAP1 p.Asp17Gly VAR_066683 rs766483829
17 THAP1 p.His23Pro VAR_066684 rs387907177
18 THAP1 p.Lys24Glu VAR_066685 rs387907176
19 THAP1 p.Pro26Leu VAR_066686
20 THAP1 p.Pro26Arg VAR_066687
21 THAP1 p.Arg29Gln VAR_066688 rs767952378
22 THAP1 p.Pro30Arg VAR_066689
23 THAP1 p.Leu32His VAR_066690
24 THAP1 p.Cys54Phe VAR_066691
25 THAP1 p.His57Asn VAR_066692
26 THAP1 p.Leu72Arg VAR_066694
27 THAP1 p.Asn75Ile VAR_066695
28 THAP1 p.Ile80Val VAR_066696 rs372080941
29 THAP1 p.Cys83Arg VAR_066697 rs768017019
30 THAP1 p.Phe132Ser VAR_066698 rs950435041
31 THAP1 p.Asn136Ser VAR_066699 rs769988455
32 THAP1 p.Tyr137Cys VAR_066700
33 THAP1 p.Met143Val VAR_066701 rs374512193
34 THAP1 p.Ile149Thr VAR_066702
35 THAP1 p.His150Pro VAR_066703
36 THAP1 p.Ala166Thr VAR_066704 rs138918468
37 THAP1 p.Arg169Gln VAR_066705 rs767519301
38 THAP1 p.Glu174Gly VAR_066706 rs759392096
39 THAP1 p.Leu180Ser VAR_066707
40 THAP1 p.Gln187Lys VAR_066708
41 THAP1 p.Asp192Asn VAR_066709 rs377725442
42 THAP1 p.Ala7Asp VAR_067356
43 THAP1 p.Ser21Cys VAR_067357
44 THAP1 p.Glu56Gly VAR_072272
45 THAP1 p.Leu177Pro VAR_079366

Sources

Expression for Dystonia 6, Torsion

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Search GEO for disease gene expression data for Dystonia 6, Torsion.
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Pathways for Dystonia 6, Torsion

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GO Terms for Dystonia 6, Torsion

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Sources for Dystonia 6, Torsion

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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