MCID: TRC068

Trichothiodystrophy, Complementation Group a malady

Summaries for Trichothiodystrophy, Complementation Group a

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46OMIM, 32MalaCards
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MalaCards: Trichothiodystrophy, Complementation Group a An important gene associated with Trichothiodystrophy, Complementation Group a is GTF2H5 (general transcription factor IIH, polypeptide 5).

Description from OMIM:46 601675

Aliases & Classifications for Trichothiodystrophy, Complementation Group a

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46OMIM
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Aliases & Descriptions:

trichothiodystrophy, complementation group a 46


Related Diseases for Trichothiodystrophy, Complementation Group a

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Clinical Features for Trichothiodystrophy, Complementation Group a

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46OMIM
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Clinical features from OMIM:

601675

Drugs & Therapeutics for Trichothiodystrophy, Complementation Group a

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

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Drug clinical trials:

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Genetic Tests for Trichothiodystrophy, Complementation Group a

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Anatomical Context for Trichothiodystrophy, Complementation Group a

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Animal Models for Trichothiodystrophy, Complementation Group a or affiliated genes

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Publications for Trichothiodystrophy, Complementation Group a

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Genetic Variations for Trichothiodystrophy, Complementation Group a

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Trichothiodystrophy, Complementation Group a:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1ERCC2p.Arg112HisVAR_003622
2ERCC2p.Leu461ValVAR_003623
3ERCC2p.Arg616ProVAR_003626
4ERCC2p.Arg722TrpVAR_003630
5ERCC2p.Ala725ProVAR_003631
6ERCC2p.Cys259TyrVAR_008189
7ERCC2p.Arg658CysVAR_008194
8ERCC2p.Arg658HisVAR_008195
9ERCC2p.Asp673GlyVAR_008196
10ERCC2p.Gly713ArgVAR_008199
11ERCC2p.Arg487GlyVAR_017284
12ERCC2p.Arg592ProVAR_017287
13ERCC2p.Ala594ProVAR_017288
14ERCC2p.Arg658GlyVAR_017290
15ERCC2p.Cys663ArgVAR_017291
16ERCC3p.Thr119ProVAR_008186
17GTF2H5p.Leu21ProVAR_022647

Expression for genes affiliated with Trichothiodystrophy, Complementation Group a

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Trichothiodystrophy, Complementation Group a

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Pathways for genes affiliated with Trichothiodystrophy, Complementation Group a

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Compounds for genes affiliated with Trichothiodystrophy, Complementation Group a

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GO Terms for genes affiliated with Trichothiodystrophy, Complementation Group a

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Products for genes affiliated with Trichothiodystrophy, Complementation Group a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Trichothiodystrophy, Complementation Group a

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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