MCID: TRD001
MIFTS: 14

Tardbp-Related Amyotrophic Lateral Sclerosis malady

Genetic diseases, Nephrological diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Tardbp-Related Amyotrophic Lateral Sclerosis

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Sources:
20GeneReviews, 34MalaCards
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MalaCards: Tardbp-Related Amyotrophic Lateral Sclerosis, also known as renal carnitine transport defect, is related to lateral sclerosis and amyotrophic lateral sclerosis. An important gene associated with Tardbp-Related Amyotrophic Lateral Sclerosis is TARDBP (TAR DNA binding protein).

GeneReviews summary for tardbp-als

Aliases & Classifications for Tardbp-Related Amyotrophic Lateral Sclerosis

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Sources:
63UMLS, 20GeneReviews, 21GeneTests
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Classifications:



Aliases & Descriptions:

tardbp-related amyotrophic lateral sclerosis 20 21
renal carnitine transport defect 63


Related Diseases for Tardbp-Related Amyotrophic Lateral Sclerosis

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18GeneCards, 19GeneDecks
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Symptoms for Tardbp-Related Amyotrophic Lateral Sclerosis

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Drugs & Therapeutics for Tardbp-Related Amyotrophic Lateral Sclerosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Tardbp-Related Amyotrophic Lateral Sclerosis

Drug clinical trials:

Search ClinicalTrials for Tardbp-Related Amyotrophic Lateral Sclerosis

Search NIH Clinical Center for Tardbp-Related Amyotrophic Lateral Sclerosis

Search CenterWatch for Tardbp-Related Amyotrophic Lateral Sclerosis

Genetic Tests for Tardbp-Related Amyotrophic Lateral Sclerosis

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Sources:
21GeneTests
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Genetic tests related to Tardbp-Related Amyotrophic Lateral Sclerosis:

id Genetic test Affiliating Genes
1 Tardbp-Related Amyotrophic Lateral Sclerosis21 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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53PubMed
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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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Tardbp-Related Amyotrophic Lateral Sclerosis:

1 (show all 22)
id Gene Name Type Significance SNP ID Assembly Location
1SLC22A5NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu)single nucleotide variantPathogenicrs11568520GRCh37Chr 5, 131705715: 131705715
2SLC22A5NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu)single nucleotide variantPathogenicrs72552726GRCh37Chr 5, 131705912: 131705912
3SLC22A5NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser)single nucleotide variantPathogenicrs151231558GRCh37Chr 5, 131714100: 131714100
4SLC22A5NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met)single nucleotide variantPathogenicrs114269482GRCh37Chr 5, 131721062: 131721062
5SLC22A5NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln)single nucleotide variantPathogenicrs386134210GRCh37Chr 5, 131722737: 131722737
6SLC22A5NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu)single nucleotide variantPathogenicrs144547521GRCh37Chr 5, 131726522: 131726522
7SLC22A5NM_003060.3(SLC22A5): c.1400C> G (p.Ser467Cys)single nucleotide variantPathogenicrs60376624GRCh37Chr 5, 131728257: 131728257
8SLC22A5NM_003060.3(SLC22A5): c.1463G> A (p.Arg488His)single nucleotide variantPathogenicrs28383481GRCh37Chr 5, 131729380: 131729380
9SLC22A5NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter)single nucleotide variantPathogenicrs72552727GRCh37Chr 5, 131714072: 131714072
10SLC22A5NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908886GRCh37Chr 5, 131722736: 131722736
11SLC22A5NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs)duplicationPathogenicrs121908887GRCh37Chr 5, 131726531: 131726532
12SLC22A5NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu)single nucleotide variantPathogenicrs72552735GRCh37Chr 5, 131728290: 131728290
13SLC22A5NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys)single nucleotide variantPathogenicrs121908888GRCh37Chr 5, 131719973: 131719973
14SLC22A5NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln)single nucleotide variantPathogenicrs121908889GRCh37Chr 5, 131719847: 131719847
15SLC22A5NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp)single nucleotide variantPathogenicrs121908890GRCh37Chr 5, 131719846: 131719846
16SLC22A5NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg)single nucleotide variantPathogenicrs68018207GRCh37Chr 5, 131724712: 131724712
17SLC22A5NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln)single nucleotide variantPathogenicrs121908891GRCh37Chr 5, 131726525: 131726525
18SLC22A5NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs121908892GRCh37Chr 5, 131705667: 131705667
19SLC22A5NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter)single nucleotide variantPathogenicrs121908893GRCh37Chr 5, 131721127: 131721127
20SLC22A5NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp)single nucleotide variantPathogenicrs267607054GRCh37Chr 5, 131726524: 131726524
21SLC22A5NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile)indelPathogenicrs267607053GRCh37Chr 5, 131728181: 131728182
22SLC22A5NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp)single nucleotide variantPathogenicrs267607052GRCh37Chr 5, 131705707: 131705707

Expression for genes affiliated with Tardbp-Related Amyotrophic Lateral Sclerosis

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tardbp-Related Amyotrophic Lateral Sclerosis

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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Compounds 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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Products for genes affiliated with Tardbp-Related Amyotrophic Lateral Sclerosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tardbp-Related Amyotrophic Lateral Sclerosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet