|Name||facioscapulohumeral muscular dystrophy 1A|
|Description||Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011]|
|Synonyms||FSHD1A, FSHMD, FSHD|
|NCBI Gene ID||2489|
|Expression in Tissues and Cell Lines||
FSHMD1A has 61 functional associations with biological entities spanning 2 categories (disease, phenotype or trait, functional term, phrase or reference) extracted from 2 datasets.
Click the + buttons to view associations for FSHMD1A from the datasets below.
If available, associations are ranked by standardized value
|CTD Gene-Disease Associations||diseases associated with FSHMD1A gene/protein from the curated CTD Gene-Disease Associations dataset.|
|GeneRIF Biological Term Annotations||biological terms co-occuring with FSHMD1A gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.|