Aliases & Classifications for Dyt-Thap1

MalaCards integrated aliases for Dyt-Thap1:

Name: Dyt-Thap1 20
Torsion Dystonia Adult Onset Mixed Type 20 6
Dystonia 6 20 43
Dyt6 20 43
Idiopathic Torsion Dystonia of Mixed Type 43
Adolescent-Onset Dystonia of Mixed Type 20
Primary Dystonia, Dyt6 Type 43
Dystonia 6, Torsion 70
Torsion Dystonia 6 43
Thap1 Dystonia 43
Dyt6 Dystonia 43

Classifications:



External Ids:

UMLS 70 C1414216

Summaries for Dyt-Thap1

MedlinePlus Genetics : 43 Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18.The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.

MalaCards based summary : Dyt-Thap1, also known as torsion dystonia adult onset mixed type, is related to dystonia 6, torsion and dystonia 1, torsion, autosomal dominant, and has symptoms including torticollis and lingual dystonia. An important gene associated with Dyt-Thap1 is THAP1 (THAP Domain Containing 1). Related phenotypes are generalized dystonia and dysarthria

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98806 Definition Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. Epidemiology It has been reported in two Amish-Mennonite families. Clinical description Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia. Etiology DYT6 is caused by mutations in the THAP1 gene (on chromosome 8). Genetic counseling DYT6 is transmitted as an autosomal dominant trait.

Related Diseases for Dyt-Thap1

Graphical network of the top 20 diseases related to Dyt-Thap1:



Diseases related to Dyt-Thap1

Symptoms & Phenotypes for Dyt-Thap1

Human phenotypes related to Dyt-Thap1:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 generalized dystonia 31 hallmark (90%) HP:0007325
2 dysarthria 31 frequent (33%) HP:0001260
3 blepharospasm 31 occasional (7.5%) HP:0000643
4 torticollis 31 occasional (7.5%) HP:0000473
5 laryngeal dystonia 31 occasional (7.5%) HP:0012049
6 lingual dystonia 31 occasional (7.5%) HP:0031008
7 limb dystonia 31 very rare (1%) HP:0002451

UMLS symptoms related to Dyt-Thap1:


torticollis; lingual dystonia

Drugs & Therapeutics for Dyt-Thap1

Search Clinical Trials , NIH Clinical Center for Dyt-Thap1

Genetic Tests for Dyt-Thap1

Anatomical Context for Dyt-Thap1

Publications for Dyt-Thap1

Articles related to Dyt-Thap1:

(showing 30, show less)
# Title Authors PMID Year
1
Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia. 6
29520331 2018
2
DYT6 Dystonia: A Neuropathological Study. 6
26610312 2016
3
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 6
26486352 2015
4
Persistent chorea in DYT6, due to anticholinergic therapy. 6
26275586 2015
5
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. 6
25088175 2014
6
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 6
24976531 2014
7
Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1. 6
22844099 2012
8
Identification and functional analysis of novel THAP1 mutations. 6
21847143 2012
9
Mutational screening of THAP1 in a German population with primary dystonia. 6
21782490 2012
10
Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers. 6
23439738 2012
11
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 6
21839475 2011
12
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. 6
21520283 2011
13
Truncating mutations in THAP1 define the nuclear localization signal. 6
21495072 2011
14
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. 6
21110056 2011
15
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. 6
20865765 2010
16
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 6
20211909 2010
17
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 6
19908320 2009
18
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 6
19345147 2009
19
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. 6
19345148 2009
20
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 6
19182804 2009
21
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review. 61
33175450 2021
22
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. 61
33547842 2021
23
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. 61
33502045 2021
24
Isolated dystonia: clinical and genetic updates. 61
33247415 2020
25
Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India. 61
32683277 2020
26
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome. 61
33488508 2020
27
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. 61
31817799 2019
28
Cerebellar Involvement in DYT-THAP1 Dystonia. 61
31367947 2019
29
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 61
30316041 2018
30
Inherited dystonias: clinical features and molecular pathways. 61
29325615 2018

Variations for Dyt-Thap1

ClinVar genetic disease variations for Dyt-Thap1:

6 (showing 91, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THAP1 NM_018105.3(THAP1):c.70A>G (p.Lys24Glu) SNV Pathogenic 31631 rs387907176 GRCh37: 8:42698168-42698168
GRCh38: 8:42843025-42843025
2 THAP1 NM_018105.3(THAP1):c.68A>C (p.His23Pro) SNV Pathogenic 31632 rs387907177 GRCh37: 8:42698170-42698170
GRCh38: 8:42843027-42843027
3 THAP1 NM_018105.3(THAP1):c.25G>T (p.Gly9Cys) SNV Pathogenic 1651 rs267607112 GRCh37: 8:42698213-42698213
GRCh38: 8:42843070-42843070
4 THAP1 NM_018105.3(THAP1):c.474del (p.Lys158fs) Deletion Pathogenic 1650 rs1586456278 GRCh37: 8:42693273-42693273
GRCh38: 8:42838130-42838130
5 THAP1 NM_018105.3(THAP1):c.384_385TC[2] (p.Val131fs) Microsatellite Pathogenic 1649 rs1586456350 GRCh37: 8:42693358-42693359
GRCh38: 8:42838215-42838216
6 THAP1 NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) SNV Pathogenic 1648 rs267607111 GRCh37: 8:42694330-42694330
GRCh38: 8:42839187-42839187
7 THAP1 NM_018105.3(THAP1):c.460del (p.Gln154fs) Deletion Pathogenic 1647 rs1586456293 GRCh37: 8:42693287-42693287
GRCh38: 8:42838144-42838144
8 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134 Indel Pathogenic 1645 GRCh37:
GRCh38:
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_018105.3(THAP1):c.112del (p.Ala38fs) Deletion Pathogenic 807516 rs1586457084 GRCh37: 8:42694484-42694484
GRCh38: 8:42839341-42839341
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_018105.2(THAP1):c.270_273delAGAA (p.Glu91Ilefs) Microsatellite Pathogenic 444750 rs749414480 GRCh37: 8:42693474-42693477
GRCh38: 8:42838331-42838334
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.14G>A (p.Cys5Tyr) SNV Likely pathogenic 807708 rs1586459413 GRCh37: 8:42698224-42698224
GRCh38: 8:42843081-42843081
21 THAP1 NM_018105.3(THAP1):c.505C>T (p.Arg169Ter) SNV Likely pathogenic 429366 rs1131691345 GRCh37: 8:42693242-42693242
GRCh38: 8:42838099-42838099
22 THAP1 NM_018105.3(THAP1):c.77C>T (p.Pro26Leu) SNV Likely pathogenic 846905 GRCh37: 8:42694519-42694519
GRCh38: 8:42839376-42839376
23 THAP1 NM_018105.3(THAP1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 582441 rs1563646198 GRCh37: 8:42698236-42698236
GRCh38: 8:42843093-42843093
24 THAP1 NM_018105.3(THAP1):c.25G>A (p.Gly9Ser) SNV Likely pathogenic 692056 rs267607112 GRCh37: 8:42698213-42698213
GRCh38: 8:42843070-42843070
25 THAP1 NM_018105.3(THAP1):c.387_399del (p.Ser130fs) Deletion Likely pathogenic 931879 GRCh37: 8:42693348-42693360
GRCh38: 8:42838205-42838217
26 THAP1 NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) SNV Likely pathogenic 964891 GRCh37: 8:42694510-42694510
GRCh38: 8:42839367-42839367
27 THAP1 NM_018105.3(THAP1):c.268-1G>C SNV Likely pathogenic 976034 GRCh37: 8:42693480-42693480
GRCh38: 8:42838337-42838337
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.164C>T (p.Ser55Leu) SNV Uncertain significance 661711 rs1586457027 GRCh37: 8:42694432-42694432
GRCh38: 8:42839289-42839289
30 THAP1 NM_018105.3(THAP1):c.403C>T (p.His135Tyr) SNV Uncertain significance 863325 GRCh37: 8:42693344-42693344
GRCh38: 8:42838201-42838201
31 THAP1 NM_018105.3(THAP1):c.506G>A (p.Arg169Gln) SNV Uncertain significance 521683 rs767519301 GRCh37: 8:42693241-42693241
GRCh38: 8:42838098-42838098
32 THAP1 NM_018105.3(THAP1):c.72-10_72-9delinsGC Indel Uncertain significance 651723 rs1586457124 GRCh37: 8:42694533-42694534
GRCh38: 8:42839390-42839391
33 THAP1 NM_018105.3(THAP1):c.140_142CCA[1] (p.Thr48del) Microsatellite Uncertain significance 573861 rs1563644832 GRCh37: 8:42694451-42694453
GRCh38: 8:42839308-42839310
34 THAP1 NM_018105.3(THAP1):c.43_45del (p.Asp15del) Deletion Uncertain significance 567899 rs1478723907 GRCh37: 8:42698193-42698195
GRCh38: 8:42843050-42843052
35 THAP1 NM_018105.3(THAP1):c.268-53_386del Deletion Uncertain significance 965170 GRCh37: 8:42693361-42693532
GRCh38: 8:42838218-42838389
36 THAP1 NM_018105.3(THAP1):c.-34G>A SNV Uncertain significance 692215 rs573112315 GRCh37: 8:42698271-42698271
GRCh38: 8:42843128-42843128
37 THAP1 NM_018105.3(THAP1):c.*1138T>A SNV Uncertain significance 908574 GRCh37: 8:42691967-42691967
GRCh38: 8:42836824-42836824
38 THAP1 NM_018105.3(THAP1):c.*877A>G SNV Uncertain significance 909431 GRCh37: 8:42692228-42692228
GRCh38: 8:42837085-42837085
39 THAP1 NM_018105.3(THAP1):c.*835A>G SNV Uncertain significance 909432 GRCh37: 8:42692270-42692270
GRCh38: 8:42837127-42837127
40 THAP1 NM_018105.3(THAP1):c.*795A>G SNV Uncertain significance 909433 GRCh37: 8:42692310-42692310
GRCh38: 8:42837167-42837167
41 THAP1 NM_018105.3(THAP1):c.*777A>G SNV Uncertain significance 909434 GRCh37: 8:42692328-42692328
GRCh38: 8:42837185-42837185
42 THAP1 NM_018105.3(THAP1):c.-118G>A SNV Uncertain significance 909497 GRCh37: 8:42698355-42698355
GRCh38: 8:42843212-42843212
43 THAP1 NM_018105.3(THAP1):c.*598A>G SNV Uncertain significance 910380 GRCh37: 8:42692507-42692507
GRCh38: 8:42837364-42837364
44 THAP1 NM_018105.3(THAP1):c.*156A>G SNV Uncertain significance 910381 GRCh37: 8:42692949-42692949
GRCh38: 8:42837806-42837806
45 THAP1 NM_018105.3(THAP1):c.149A>G (p.Tyr50Cys) SNV Uncertain significance 463441 rs1554599710 GRCh37: 8:42694447-42694447
GRCh38: 8:42839304-42839304
46 THAP1 NM_018105.3(THAP1):c.161G>C (p.Cys54Ser) SNV Uncertain significance 463442 rs1554599707 GRCh37: 8:42694435-42694435
GRCh38: 8:42839292-42839292
47 THAP1 NM_018105.3(THAP1):c.*459A>C SNV Uncertain significance 363114 rs886062945 GRCh37: 8:42692646-42692646
GRCh38: 8:42837503-42837503
48 THAP1 NM_018105.3(THAP1):c.-111T>C SNV Uncertain significance 363131 rs774107588 GRCh37: 8:42698348-42698348
GRCh38: 8:42843205-42843205
49 THAP1 NM_018105.3(THAP1):c.427A>G (p.Met143Val) SNV Uncertain significance 225489 rs374512193 GRCh37: 8:42693320-42693320
GRCh38: 8:42838177-42838177
50 THAP1 NM_018105.3(THAP1):c.*1032G>A SNV Uncertain significance 363109 rs886062944 GRCh37: 8:42692073-42692073
GRCh38: 8:42836930-42836930
51 THAP1 NM_018105.3(THAP1):c.*141A>G SNV Uncertain significance 363121 rs745429614 GRCh37: 8:42692964-42692964
GRCh38: 8:42837821-42837821
52 THAP1 NM_018105.3(THAP1):c.*999G>A SNV Uncertain significance 363110 rs558640226 GRCh37: 8:42692106-42692106
GRCh38: 8:42836963-42836963
53 THAP1 NM_018105.3(THAP1):c.-15C>T SNV Uncertain significance 363127 rs771561925 GRCh37: 8:42698252-42698252
GRCh38: 8:42843109-42843109
54 THAP1 NM_018105.3(THAP1):c.-101C>G SNV Uncertain significance 363130 rs886062949 GRCh37: 8:42698338-42698338
GRCh38: 8:42843195-42843195
55 THAP1 NM_018105.3(THAP1):c.*1235C>A SNV Uncertain significance 363107 rs528126268 GRCh37: 8:42691870-42691870
GRCh38: 8:42836727-42836727
56 THAP1 NM_018105.3(THAP1):c.*245T>C SNV Uncertain significance 363119 rs886062947 GRCh37: 8:42692860-42692860
GRCh38: 8:42837717-42837717
57 THAP1 NM_018105.3(THAP1):c.238A>G (p.Ile80Val) SNV Uncertain significance 444751 rs372080941 GRCh37: 8:42694358-42694358
GRCh38: 8:42839215-42839215
58 THAP1 NM_018105.3(THAP1):c.343G>C (p.Ala115Pro) SNV Uncertain significance 1002296 GRCh37: 8:42693404-42693404
GRCh38: 8:42838261-42838261
59 THAP1 NM_018105.3(THAP1):c.241T>C (p.Phe81Leu) SNV Uncertain significance 1646 rs118204013 GRCh37: 8:42694355-42694355
GRCh38: 8:42839212-42839212
60 THAP1 NM_018105.3(THAP1):c.298C>T (p.Leu100Phe) SNV Uncertain significance 949008 GRCh37: 8:42693449-42693449
GRCh38: 8:42838306-42838306
61 THAP1 NM_018105.3(THAP1):c.153C>G (p.Ser51Arg) SNV Uncertain significance 953175 GRCh37: 8:42694443-42694443
GRCh38: 8:42839300-42839300
62 THAP1 NC_000008.10:g.(?_42693361_42693532del Deletion Uncertain significance 1036558 GRCh37:
GRCh38:
63 THAP1 NM_018105.3(THAP1):c.*137C>A SNV Uncertain significance 911593 GRCh37: 8:42692968-42692968
GRCh38: 8:42837825-42837825
64 THAP1 NM_018105.3(THAP1):c.*139A>G SNV Uncertain significance 911592 GRCh37: 8:42692966-42692966
GRCh38: 8:42837823-42837823
65 THAP1 NM_018105.3(THAP1):c.268-159A>G SNV Uncertain significance 930300 GRCh37: 8:42693638-42693638
GRCh38: 8:42838495-42838495
66 THAP1 NM_018105.3(THAP1):c.421G>A (p.Asp141Asn) SNV Likely benign 448685 rs138345513 GRCh37: 8:42693326-42693326
GRCh38: 8:42838183-42838183
67 THAP1 NM_018105.3(THAP1):c.-40T>C SNV Likely benign 363128 rs368815106 GRCh37: 8:42698277-42698277
GRCh38: 8:42843134-42843134
68 THAP1 NM_018105.3(THAP1):c.363G>A (p.Pro121=) SNV Likely benign 463444 rs202128051 GRCh37: 8:42693384-42693384
GRCh38: 8:42838241-42838241
69 THAP1 NM_018105.3(THAP1):c.489C>G (p.Leu163=) SNV Likely benign 363125 rs150542583 GRCh37: 8:42693258-42693258
GRCh38: 8:42838115-42838115
70 THAP1 NM_018105.3(THAP1):c.57C>T (p.Pro19=) SNV Benign/Likely benign 699383 rs146087734 GRCh37: 8:42698181-42698181
GRCh38: 8:42843038-42843038
71 THAP1 NM_018105.3(THAP1):c.71+9C>A SNV Benign/Likely benign 363126 rs200209986 GRCh37: 8:42698158-42698158
GRCh38: 8:42843015-42843015
72 THAP1 NM_018105.3(THAP1):c.47A>G (p.Lys16Arg) SNV Benign 908644 GRCh37: 8:42698191-42698191
GRCh38: 8:42843048-42843048
73 THAP1 NM_018105.3(THAP1):c.*65G>C SNV Benign 911595 GRCh37: 8:42693040-42693040
GRCh38: 8:42837897-42837897
74 THAP1 NM_018105.3(THAP1):c.*135T>A SNV Benign 363122 rs181850921 GRCh37: 8:42692970-42692970
GRCh38: 8:42837827-42837827
75 THAP1 NM_018105.3(THAP1):c.268-4T>A SNV Benign 463443 rs755416189 GRCh37: 8:42693483-42693483
GRCh38: 8:42838340-42838340
76 THAP1 NM_018105.3(THAP1):c.577G>A (p.Val193Ile) SNV Benign 463445 rs756694303 GRCh37: 8:42693170-42693170
GRCh38: 8:42838027-42838027
77 THAP1 NM_199003.1(THAP1):c.-237G>T SNV Benign 363134 rs370983900 GRCh37: 8:42698474-42698474
GRCh38: 8:42843331-42843331
78 THAP1 NM_018105.3(THAP1):c.*1157A>G SNV Benign 363108 rs142802423 GRCh37: 8:42691948-42691948
GRCh38: 8:42836805-42836805
79 THAP1 NM_018105.3(THAP1):c.*803G>A SNV Benign 363111 rs59531993 GRCh37: 8:42692302-42692302
GRCh38: 8:42837159-42837159
80 THAP1 NM_018105.3(THAP1):c.*434A>G SNV Benign 363116 rs73675437 GRCh37: 8:42692671-42692671
GRCh38: 8:42837528-42837528
81 THAP1 NM_018105.3(THAP1):c.*686A>G SNV Benign 363113 rs11557527 GRCh37: 8:42692419-42692419
GRCh38: 8:42837276-42837276
82 THAP1 NM_199003.1(THAP1):c.-236A>T SNV Benign 363133 rs184497763 GRCh37: 8:42698473-42698473
GRCh38: 8:42843330-42843330
83 THAP1 NM_018105.3(THAP1):c.-48C>T SNV Benign 363129 rs377034494 GRCh37: 8:42698285-42698285
GRCh38: 8:42843142-42843142
84 THAP1 NM_018105.3(THAP1):c.*1250G>A SNV Benign 363106 rs543106396 GRCh37: 8:42691855-42691855
GRCh38: 8:42836712-42836712
85 THAP1 NM_018105.3(THAP1):c.*127A>T SNV Benign 363123 rs369328057 GRCh37: 8:42692978-42692978
GRCh38: 8:42837835-42837835
86 THAP1 NM_018105.2(THAP1):c.-240G>A SNV Benign 369610 rs187837632 GRCh37: 8:42698477-42698477
GRCh38: 8:42843334-42843334
87 THAP1 NM_018105.3(THAP1):c.*455A>G SNV Benign 363115 rs73675436 GRCh37: 8:42692650-42692650
GRCh38: 8:42837507-42837507
88 THAP1 NM_018105.3(THAP1):c.*745G>T SNV Benign 363112 rs114447974 GRCh37: 8:42692360-42692360
GRCh38: 8:42837217-42837217
89 THAP1 NM_018105.3(THAP1):c.*297A>G SNV Benign 363117 rs73634656 GRCh37: 8:42692808-42692808
GRCh38: 8:42837665-42837665
90 THAP1 NM_018105.3(THAP1):c.*190C>A SNV Benign 363120 rs141658821 GRCh37: 8:42692915-42692915
GRCh38: 8:42837772-42837772
91 THAP1 NM_018105.3(THAP1):c.*126T>A SNV Benign 911594 GRCh37: 8:42692979-42692979
GRCh38: 8:42837836-42837836

Expression for Dyt-Thap1

Search GEO for disease gene expression data for Dyt-Thap1.

Pathways for Dyt-Thap1

GO Terms for Dyt-Thap1

Sources for Dyt-Thap1

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
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