MCID: TRD001
MIFTS: 12

Tardbp-Related Amyotrophic Lateral Sclerosis malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Tardbp-Related Amyotrophic Lateral Sclerosis

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Aliases & Descriptions for Tardbp-Related Amyotrophic Lateral Sclerosis:

Name: Tardbp-Related Amyotrophic Lateral Sclerosis 23 24
Amyotrophic Lateral Sclerosis 10 24 67
 
Als 10 24

Characteristics:

GeneReviews:

23
Penetrance: like pathogenic variants in other als-related genes (e.g., sod1), penetrance is clearly incomplete. this is evident from the number of individuals with apparently simplex als who have a tardbp pathogenic variant, which may have been inherited from an ostensibly asymptomatic (or undiagnosed) parent. however, accurate estimates are difficult to achieve for the following reasons:...


Classifications:



Summaries for Tardbp-Related Amyotrophic Lateral Sclerosis

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MalaCards based summary: Tardbp-Related Amyotrophic Lateral Sclerosis, also known as amyotrophic lateral sclerosis 10, is related to amyotrophic lateral sclerosis 10, with or without ftd and lateral sclerosis. An important gene associated with Tardbp-Related Amyotrophic Lateral Sclerosis is TARDBP (TAR DNA Binding Protein).

GeneReviews for NBK5942

Related Diseases for Tardbp-Related Amyotrophic Lateral Sclerosis

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Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 21
Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 9
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 1
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 14
tardbp-related amyotrophic lateral sclerosis Als5-Related Amyotrophic Lateral Sclerosis
Erbb4-Related Amyotrophic Lateral Sclerosis Hnrnpa1-Related Amyotrophic Lateral Sclerosis
Sqstm1-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Optn-Related Amyotrophic Lateral Sclerosis
Pfn1-Related Amyotrophic Lateral Sclerosis Setx-Related Amyotrophic Lateral Sclerosis
Sigmar1-Related Amyotrophic Lateral Sclerosis Sod1-Related Amyotrophic Lateral Sclerosis
Vapb-Related Amyotrophic Lateral Sclerosis

Diseases related to Tardbp-Related Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1amyotrophic lateral sclerosis 10, with or without ftd11.3
2lateral sclerosis10.1

Symptoms for Tardbp-Related Amyotrophic Lateral Sclerosis

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Drugs & Therapeutics for Tardbp-Related Amyotrophic Lateral Sclerosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tardbp-Related Amyotrophic Lateral Sclerosis

Genetic Tests for Tardbp-Related Amyotrophic Lateral Sclerosis

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Genetic tests related to Tardbp-Related Amyotrophic Lateral Sclerosis:

id Genetic test Affiliating Genes
1 Tardbp-Related Amyotrophic Lateral Sclerosis24 TARDBP

Anatomical Context for Tardbp-Related Amyotrophic Lateral Sclerosis

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Animal Models for Tardbp-Related Amyotrophic Lateral Sclerosis or affiliated genes

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Publications for Tardbp-Related Amyotrophic Lateral Sclerosis

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Articles related to Tardbp-Related Amyotrophic Lateral Sclerosis:

idTitleAuthorsYear
1
TARDBP-Related Amyotrophic Lateral Sclerosis (20301761)
1993

Variations for Tardbp-Related Amyotrophic Lateral Sclerosis

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Clinvar genetic disease variations for Tardbp-Related Amyotrophic Lateral Sclerosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TARDBPNM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr)SNVPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
2TARDBPNM_007375.3(TARDBP): c.*697G> ASNVPathogenicrs387906334GRCh37Chr 1, 11083408: 11083408

Expression for genes affiliated with Tardbp-Related Amyotrophic Lateral Sclerosis

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Search GEO for disease gene expression data for Tardbp-Related Amyotrophic Lateral Sclerosis.

Pathways for genes affiliated with Tardbp-Related Amyotrophic Lateral Sclerosis

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GO Terms for genes affiliated with Tardbp-Related Amyotrophic Lateral Sclerosis

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Sources for Tardbp-Related Amyotrophic Lateral Sclerosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet