Entry Detail



General Information

Database ID:LDA0004202
Species:Homo sapiens
Confidence Score:0.7311
Contents:>> ncRNA Information
>> Regulatory Relationship
>> Disease Information
>> Evidence Support
>> Reference

 

ncRNA Information

ncRNA Symbol:THE1C-lncRNA
Full Name:N/A
Category:lncRNA
Species:Homo sapiens
Synonyms:N/A
Chromosome:N/A
Strand:N/A
Coordinate:
Start Site(bp):0End Site(bp):0
Gene Summary:N/A
External Links:
Ensembl ID:N/A
HGNC ID:N/A
Entrez Gene:N/A
VEGA ID:N/A
UCSC ID:N/A
ENA:N/A
RefSeq Accession:N/A
UniProtKB:N/A

 

Regulatory Relationship

mRNA targets:N/A
miRNA targets:N/A
Display:N/A

 

Disease Information

 Disease OntologyMeSH
Disease ID:DOID:11727D020391
Disease Name:facioscapulohumeral muscular dystrophyMuscular Dystrophy, Facioscapulohumeral
Category:Disease OntologyMeSH
Type:disease of anatomical entityMusculoskeletal Diseases//Nervous System Diseases//Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Define:N/AAn autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
Alias:Landouzy Dejerine muscular dystrophy//Landouzy-Dejerine muscular dystrophy//Landouzy-Dejerine muscular dystrophy//Muscular dystrophy, Landouzy-DejerineDystrophies, Facioscapulohumeral Muscular//Dystrophy, Facioscapulohumeral Muscular//Facioscapulohumeral Muscular Dystrophies//Muscular Dystrophies, Facioscapulohumeral//Facioscapulohumeral Atrophy//Atrophies, Facioscapulohumeral//Atrophy, Facioscapulohumeral//Facioscapulohumeral Atrophies//Facioscapulohumeral Muscular Dystrophy//Facioscapulohumeral Type Progressive Muscular Dystrophy//FSH Muscular Dystrophy//Landouzy-Dejerine Dystrophy//Dystrophies, Landouzy-Dejerine//Dystrophy, Landouzy-Dejerine//Landouzy Dejerine Dystrophy//Landouzy-Dejerine Dystrophies//Muscular Dystrophy, Landouzy Dejerine//Progressive Muscular Dystrophy, Facioscapulohumeral Type//Facio-Scapulo-Humeral Dystrophy//Facioscapuloperoneal Muscular Dystrophy

 

Evidence Support

Strong Evidence:RT-PCR
Weak Evidence:N/A
Prediction Method:N/A

 

Reference

[1] PubMed ID:24278031
Disease Name:facioscapulohumeral muscular dystrophy
Sample:muscle
Dysfunction Pattern:Expression [differentially expressed]
Validated Method:RT-PCR
Description:Our findings demonstrate a role for DUX4 and repetitive elements in mammalian germline evolution and in FSHD muscular dystrophy.
Author:Young JM,Whiddon JL,Yao Z,Kasinathan B,Snider L,Geng LN,Balog J,Tawil R,van der Maarel SM,Tapscott SJ
Year:2013
Title:DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.
Causality:No