MCID: EMR016

Emery-Dreifuss Muscular Dystrophy 6, X-Linked malady

Genetic diseases, Muscle diseases, Rare diseases categories
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Summaries for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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MalaCards based summary: Emery-Dreifuss Muscular Dystrophy 6, X-Linked An important gene associated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked is FHL1 (four and a half LIM domains 1).

Description from OMIM:46 300696

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Emery-Dreifuss Muscular Dystrophy 6, X-Linked, Aliases & Descriptions:

Name: Emery-Dreifuss Muscular Dystrophy 6, X-Linked 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


Related Diseases for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Symptoms for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Clinical features from OMIM:

300696

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Anatomical Context for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Animal Models for Emery-Dreifuss Muscular Dystrophy 6, X-Linked or affiliated genes

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Publications for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Variations for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 6, X-Linked:

64
id Symbol AA change Variation ID SNP ID
1FHL1p.Cys224TrpVAR_042605

Clinvar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 6, X-Linked:

6
id Gene Name Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp)single nucleotide variantPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenic
3FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)single nucleotide variantPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
4FHL1FHL1, IVS4DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Expression patterns in normal tissues for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 6, X-Linked.

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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  • Antibodies
  • Proteins
  • Lysates

Sources for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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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