MCID: FRN034
MIFTS: 10

Frontotemporal Lobar Degeneration, Tardbp-Related malady

Genetic diseases (common) category
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Summaries for Frontotemporal Lobar Degeneration, Tardbp-Related

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MalaCards based summary: 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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Frontotemporal Lobar Degeneration, Tardbp-Related, Aliases & Descriptions:

Name: Frontotemporal Lobar Degeneration, Tardbp-Related 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Frontotemporal Lobar Degeneration, Tardbp-Related

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Symptoms for Frontotemporal Lobar Degeneration, Tardbp-Related

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Clinical features from OMIM:

612069

Drugs & Therapeutics for Frontotemporal Lobar Degeneration, Tardbp-Related

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Drug clinical trials:

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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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Variations for Frontotemporal Lobar Degeneration, Tardbp-Related

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

64 (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

Clinvar genetic disease variations for Frontotemporal Lobar Degeneration, Tardbp-Related:

6 (show all 33)
id Gene Name Type Significance SNP ID Assembly Location
1TARDBPNM_007375.3(TARDBP): c.*83T> Csingle nucleotide variantPathogenicrs80356744GRCh37Chr 1, 11082794: 11082794
2TARDBPNM_007375.3(TARDBP): c.1004G> A (p.Gly335Asp)single nucleotide variantPathogenicrs80356729GRCh37Chr 1, 11082470: 11082470
3TARDBPNM_007375.3(TARDBP): c.1035C> A (p.Asn345Lys)single nucleotide variantPathogenicrs80356732GRCh37Chr 1, 11082501: 11082501
4TARDBPNM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser)single nucleotide variantPathogenicrs80356734GRCh37Chr 1, 11082521: 11082521
5TARDBPNM_007375.3(TARDBP): c.1083G> T (p.Arg361Ser)single nucleotide variantPathogenicrs80356735GRCh37Chr 1, 11082549: 11082549
6TARDBPNM_007375.3(TARDBP): c.1097C> G (p.Ala366Gly)single nucleotide variantPathogenicrs80356736GRCh37Chr 1, 11082563: 11082563
7TARDBPNM_007375.3(TARDBP): c.1121dupA (p.Tyr374Terfs)duplicationPathogenicrs80356737GRCh37Chr 1, 11082587: 11082587
8TARDBPNM_007375.3(TARDBP): c.1135T> C (p.Ser379Pro)single nucleotide variantPathogenicrs80356738GRCh37Chr 1, 11082601: 11082601
9TARDBPNM_007375.3(TARDBP): c.1136C> G (p.Ser379Cys)single nucleotide variantPathogenicrs80356739GRCh37Chr 1, 11082602: 11082602
10TARDBPNM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
11TARDBPNM_007375.3(TARDBP): c.1144G> C (p.Ala382Pro)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
12TARDBPNM_007375.3(TARDBP): c.1147A> G (p.Ile383Val)single nucleotide variantPathogenicrs80356740GRCh37Chr 1, 11082613: 11082613
13TARDBPNM_007375.3(TARDBP): c.1168A> G (p.Asn390Asp)single nucleotide variantPathogenicrs80356741GRCh37Chr 1, 11082634: 11082634
14TARDBPNM_007375.3(TARDBP): c.1169A> G (p.Asn390Ser)single nucleotide variantPathogenicrs80356742GRCh37Chr 1, 11082635: 11082635
15TARDBPNM_007375.3(TARDBP): c.1178C> T (p.Ser393Leu)single nucleotide variantPathogenicrs80356743GRCh37Chr 1, 11082644: 11082644
16TARDBPNM_007375.3(TARDBP): c.800A> G (p.Asn267Ser)single nucleotide variantPathogenicrs80356718GRCh37Chr 1, 11082266: 11082266
17TARDBPNM_007375.3(TARDBP): c.859G> A (p.Gly287Ser)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
18TARDBPNM_007375.3(TARDBP): c.881G> T (p.Gly294Val)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
19TARDBPNM_007375.3(TARDBP): c.883G> A (p.Gly295Ser)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
20TARDBPNM_007375.3(TARDBP): c.883G> C (p.Gly295Arg)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
21TARDBPNM_007375.3(TARDBP): c.931A> G (p.Met311Val)single nucleotide variantPathogenicrs80356725GRCh37Chr 1, 11082397: 11082397
22TARDBPNM_007375.3(TARDBP): c.995G> A (p.Ser332Asn)single nucleotide variantPathogenicrs80356728GRCh37Chr 1, 11082461: 11082461
23TARDBPNM_007375.3(TARDBP): c.859G> C (p.Gly287Arg)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
24TARDBPNM_007375.3(TARDBP): c.1009A> G (p.Met337Val)single nucleotide variantPathogenicrs80356730GRCh37Chr 1, 11082475: 11082475
25TARDBPNM_007375.3(TARDBP): c.991C> A (p.Gln331Lys)single nucleotide variantPathogenicrs80356727GRCh37Chr 1, 11082457: 11082457
26TARDBPNM_007375.3(TARDBP): c.881G> C (p.Gly294Ala)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
27TARDBPNM_007375.3(TARDBP): c.869G> C (p.Gly290Ala)single nucleotide variantPathogenicrs121908395GRCh37Chr 1, 11082335: 11082335
28TARDBPNM_007375.3(TARDBP): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs4884357GRCh37Chr 1, 11082358: 11082358
29TARDBPNM_007375.3(TARDBP): c.506A> G (p.Asp169Gly)single nucleotide variantPathogenicrs80356717GRCh37Chr 1, 11078893: 11078893
30TARDBPNM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys)single nucleotide variantPathogenicrs80356733GRCh37Chr 1, 11082508: 11082508
31TARDBPNM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg)single nucleotide variantPathogenicrs80356731GRCh37Chr 1, 11082494: 11082494
32TARDBPNM_007375.3(TARDBP): c.943G> A (p.Ala315Thr)single nucleotide variantPathogenicrs80356726GRCh37Chr 1, 11082409: 11082409
33TARDBPNM_007375.3(TARDBP): c.*697G> Asingle nucleotide variantPathogenicrs387906334GRCh37Chr 1, 11083408: 11083408

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

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet