|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
ORPHANET |
|
|
|
|
Facioscapulohumeral muscular dystrophy 1a
|
0.330 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lordosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Edema of eyelid
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Creatine phosphokinase serum increased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Mask-like facies
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Electromyogram abnormal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Skeletal muscle atrophy
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal eyelash morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of cardiovascular system morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contractions of D4Z4 repeats at 4q35.2 thought to induce misregulation of nearby genes, one of which, DUX4, is actually localized within each repeat.
|
19756142 |
2009 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FSHD results from a unique combination of genetic and epigenetic changes on 4q35 leading to release of repression of DUX4, causing disease in a toxic gain-of-function manner.
|
21734574 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype.
|
24030947 |
2013 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that decrease the epigenetic repression of DUX4 in somatic tissues and result in mis-expression of this transcription factor in skeletal muscle.
|
24278031 |
2013 |
|
Facioscapulohumeral muscular dystrophy 1a
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is caused by a contraction in the number of D4Z4 repeats on chromosome 4, resulting in relaxation of D4Z4 chromatin causing inappropriate expression of DUX4 in skeletal muscle.
|
24755953 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
FSHD is associated with partial chromatin relaxation of the D4Z4 repeat array on chromosome 4 and the somatic expression of the D4Z4 encoded DUX4 gene.
|
25782668 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated expression in somatic cells of the normally repressed DUX4 gene within the D4Z4-repeat array.
|
25820463 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy is caused by incomplete epigenetic repression of the transcription factor DUX4 in skeletal muscle.
|
26575099 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is caused by inappropriate expression of the double homeodomain protein DUX4.
|
28935672 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2).
|
29162933 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length.
|
30055030 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4.
|
30281091 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
FSHD is caused by expression of DUX4, a retrogene located on the D4Z4 macrosatellite repeat array on chromosome 4q35, a gene expressed in the germline but typically repressed in somatic tissue.
|
30361930 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to epigenetic derepression of D4Z4 repeats on chromosome 4q, leading to ectopic DUX4 expression.
|
30462217 |
2019 |