Entry Detail


General Information

Database ID: LDA0021539
Species: Homo sapiens
Confidence Score: 0.731059
Contents: >> ncRNA Information
>> ncRNA Association Statistics
>> Disease Information
>> Disease Association Statistics
>> Evidence Support
>> Reference
Causality: Unknown
Clinical Significance: Unknown

 


ncRNA Information

Reference Genome Note: GRCh38 for human lncRNAs; GRCm39 for mouse lncRNAs; mRatBN7.2 for rat lncRNAs; hg19 for human circRNAs; mm9 for mouse circRNAs.

ncRNA Symbol:H19
Full Name:H19, imprinted maternally expressed transcript
Category:LncRNA
Species:Mus musculus
Synonyms:EyeLinc6
Chromosome:7
Strand:-
Coordinate:
Start Site(bp):142129267End Site(bp):142131883
External Links:
Ensembl ID:ENSMUSG00000000031
Ensembl Transcript ID:N/A
Entrez Gene:14955.0
NONCODE ID:N/A
RefSeq Accession:NR_130973.1

 

ncRNA Association Statistics

Total Associated Disease Number:214   
More Information
Causal Disease Number:122
Network:
Top Causal Diseases:
Stomach Neoplasms  (Score: 1)
Glioma  (Score: 1)
Glioma  (Score: 1)
Carcinoma, Hepatocellular  (Score: 1)
Colorectal Neoplasms  (Score: 1)
Breast Neoplasms  (Score: 1)
Breast Neoplasms  (Score: 1)
Stomach Neoplasms  (Score: 1)
Carcinoma, Hepatocellular  (Score: 1)
Colorectal Neoplasms  (Score: 1)
More Information

 

 

Disease Information

 Disease OntologyMeSH
Disease ID:DOID:11727D020391
Disease Name:facioscapulohumeral muscular dystrophyMuscular Dystrophy, Facioscapulohumeral
Category:Disease OntologyMeSH
Type:Musculoskeletal Diseases
Define:An 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//Muscular dystrophy, Landouzy-DejerineMuscular Dystrophy, Facioscapulohumeral//Dystrophies, 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

 

Disease Association Statistics

Total Associated ncRNA Number:2   
More Information
Causal ncRNA Number:0
Network:
Top Causal ncRNAs:
More Information

 

Evidence Support

Strong Evidence:Northern Blot//Western Blot//Flow Cytometry//qRT-PCR//Luciferase Report Assay//Cell Apoptosis Assay
Weak Evidence:

 

Reference

[1] PubMed ID:34880230
Disease Name:Muscular Dystrophy, Facioscapulohumeral
Sample:FSHD cells
Dysfunction Pattern:Regulation(DUX4)
Validated Method:Northern Blot//Western Blot//Flow Cytometry//qRT-PCR//Luciferase Report Assay//Cell Apoptosis Assay
Description:Human miR-675 inhibits DUX4 expression and associated outcomes in FSHD cell models. In addition, miR-675 delivery using gene therapy protects muscles from DUX4-associated death in mice. Finally, we show that three known miR-675-upregulating small molecules inhibit DUX4 and DUX4-activated FSHD biomarkers in FSHD patient-derived myotubes.
Causality:No
Causal Description:
Clinical-realted Application: