MCID: ERL010
MIFTS: 2

Early-Onset Severe Reducing Body Myopathy, X-Linked malady

Categories: Genetic diseases

Aliases & Classifications for Early-Onset Severe Reducing Body Myopathy, X-Linked

Aliases & Descriptions for Early-Onset Severe Reducing Body Myopathy, X-Linked:

Name: Early-Onset Severe Reducing Body Myopathy, X-Linked 24

Classifications:



Summaries for Early-Onset Severe Reducing Body Myopathy, X-Linked

MalaCards based summary : Early-Onset Severe Reducing Body Myopathy, X-Linked An important gene associated with Early-Onset Severe Reducing Body Myopathy, X-Linked is FHL1 (Four And A Half LIM Domains 1).

Related Diseases for Early-Onset Severe Reducing Body Myopathy, X-Linked

Symptoms & Phenotypes for Early-Onset Severe Reducing Body Myopathy, X-Linked

Drugs & Therapeutics for Early-Onset Severe Reducing Body Myopathy, X-Linked

Search Clinical Trials , NIH Clinical Center for Early-Onset Severe Reducing Body Myopathy, X-Linked

Genetic Tests for Early-Onset Severe Reducing Body Myopathy, X-Linked

Genetic tests related to Early-Onset Severe Reducing Body Myopathy, X-Linked:

id Genetic test Affiliating Genes
1 Early-Onset Severe Reducing Body Myopathy, X-Linked 24 FHL1

Anatomical Context for Early-Onset Severe Reducing Body Myopathy, X-Linked

Publications for Early-Onset Severe Reducing Body Myopathy, X-Linked

Variations for Early-Onset Severe Reducing Body Myopathy, X-Linked

ClinVar genetic disease variations for Early-Onset Severe Reducing Body Myopathy, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.367C> T (p.His123Tyr) single nucleotide variant Pathogenic rs122458142 GRCh37 Chromosome X, 135289986: 135289986
2 FHL1 NM_001159702.2(FHL1): c.395G> T (p.Cys132Phe) single nucleotide variant Pathogenic rs122458143 GRCh37 Chromosome X, 135290014: 135290014
3 FHL1 NM_001159702.2(FHL1): c.449G> A (p.Cys150Tyr) single nucleotide variant Pathogenic rs122459146 GRCh37 Chromosome X, 135290068: 135290068
4 FHL1 NM_001159702.2(FHL1): c.368A> T (p.His123Leu) single nucleotide variant Pathogenic rs267606812 GRCh37 Chromosome X, 135289987: 135289987
5 FHL1 NM_001159702.2(FHL1): c.369C> G (p.His123Gln) single nucleotide variant Pathogenic rs267606813 GRCh37 Chromosome X, 135289988: 135289988

Expression for Early-Onset Severe Reducing Body Myopathy, X-Linked

Search GEO for disease gene expression data for Early-Onset Severe Reducing Body Myopathy, X-Linked.

Pathways for Early-Onset Severe Reducing Body Myopathy, X-Linked

GO Terms for Early-Onset Severe Reducing Body Myopathy, X-Linked

Sources for Early-Onset Severe Reducing Body Myopathy, X-Linked

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