MCID: FRN034
MIFTS: 10

Frontotemporal Lobar Degeneration, Tardbp-Related malady

Summaries for Frontotemporal Lobar Degeneration, Tardbp-Related

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46OMIM, 32MalaCards
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MalaCards: Frontotemporal Lobar Degeneration, Tardbp-Related An important gene associated with Frontotemporal Lobar Degeneration, Tardbp-Related is TARDBP (TAR DNA binding protein).

Description from OMIM:46 612069

Aliases & Classifications for Frontotemporal Lobar Degeneration, Tardbp-Related

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46OMIM
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Aliases & Descriptions:

frontotemporal lobar degeneration, tardbp-related 46


Related Diseases for Frontotemporal Lobar Degeneration, Tardbp-Related

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Clinical Features for Frontotemporal Lobar Degeneration, Tardbp-Related

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46OMIM
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Clinical features from OMIM:

612069

Drugs & Therapeutics for Frontotemporal Lobar Degeneration, Tardbp-Related

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Frontotemporal Lobar Degeneration, Tardbp-Related

Drug clinical trials:

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Search NIH Clinical Center for Frontotemporal Lobar Degeneration, Tardbp-Related

Search CenterWatch for Frontotemporal Lobar Degeneration, Tardbp-Related

Genetic Tests for Frontotemporal Lobar Degeneration, Tardbp-Related

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Anatomical Context for Frontotemporal Lobar Degeneration, Tardbp-Related

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Animal Models for Frontotemporal Lobar Degeneration, Tardbp-Related or affiliated genes

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Publications for Frontotemporal Lobar Degeneration, Tardbp-Related

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Genetic Variations for Frontotemporal Lobar Degeneration, Tardbp-Related

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Frontotemporal Lobar Degeneration, Tardbp-Related:

62 (show all 25)
id Symbol AA change Variation ID SNP ID
1TARDBPp.Asp169GlyVAR_045657rs80356717
2TARDBPp.Gly287SerVAR_045658rs80356719
3TARDBPp.Gly290AlaVAR_045659rs121908395
4TARDBPp.Gly294AlaVAR_045660rs80356721
5TARDBPp.Gly298SerVAR_045661rs4884357
6TARDBPp.Ala315ThrVAR_045662rs80356726
7TARDBPp.Gln331LysVAR_045663rs80356727
8TARDBPp.Met337ValVAR_045664rs80356730
9TARDBPp.Gly348CysVAR_045665rs80356733
10TARDBPp.Arg361SerVAR_045666rs80356735
11TARDBPp.Ala382ThrVAR_045667rs11689432
12TARDBPp.Asn390AspVAR_045668rs80356741
13TARDBPp.Asn390SerVAR_045669rs80356742
14TARDBPp.Asn267SerVAR_058611rs80356718
15TARDBPp.Gly294ValVAR_058612
16TARDBPp.Gly295ArgVAR_058613rs80356723
17TARDBPp.Gly295SerVAR_058614rs80356723
18TARDBPp.Ser332AsnVAR_058615rs80356728
19TARDBPp.Gly335AspVAR_058616rs80356729
20TARDBPp.Ser379CysVAR_058617rs80356739
21TARDBPp.Ser379ProVAR_058618rs80356738
22TARDBPp.Ser393LeuVAR_058619rs80356743
23TARDBPp.Gln343ArgVAR_062767rs80356731
24TARDBPp.Gly357ArgVAR_067499
25TARDBPp.Arg361ThrVAR_067500

Expression for genes affiliated with Frontotemporal Lobar Degeneration, Tardbp-Related

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frontotemporal Lobar Degeneration, Tardbp-Related

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Pathways for genes affiliated with Frontotemporal Lobar Degeneration, Tardbp-Related

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Compounds for genes affiliated with Frontotemporal Lobar Degeneration, Tardbp-Related

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GO Terms for genes affiliated with Frontotemporal Lobar Degeneration, Tardbp-Related

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Products for genes affiliated with Frontotemporal Lobar Degeneration, Tardbp-Related

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Frontotemporal Lobar Degeneration, Tardbp-Related

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet