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Details
Link-It Detail - Disease - Distal Myopathies
Debug Stats
  • ### Total Build Time: 528 ms 27.290 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 388 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 5.386 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 11.081 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 8.207 KB
  • CONCEPT_XREFS gt=509 ms Completed: 509 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Distal Myopathies C0751336
Definition (1)
A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Muscular Dystrophies C0026850
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278685img Muscular Dystrophies C0026850
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Muscular Dystrophies C0026850
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268485img Muscular Dystrophies C0026850
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Muscular Dystrophies C0026850
Relationships (22)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 3
diso_​to_​diso : 10
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 7
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 4
mapped_​to : 5
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN61img genetic aspects C0017399
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_PHYS18img Mutation C0026882
DISO_to_ANAT15img Vacuole C0042219
DISO_to_CHEM13img Muscle Protein C0026832
DISO_to_ANAT10img Muscle, Skeletal C0242692
DISO_to_CHEM9img Muscle Protein C0026832
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg soft tissue C0225317
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg DYSF protein, human C0758256
DISO_to_DISOisaimg Benign congenital muscular dystrophy with finger flexion contractures C0410196
DISO_to_DISOpermuted_term_ofimg Distal Muscular Dystrophies C0751336
DISO_to_DISOisaimg Distal muscular dystrophy with adult onset C0282030
DISO_to_DISOisaimg Distal muscular dystrophy with juvenile onset C0410197
DISO_to_DISOisaimg Distal muscular dystrophy, Miyoshi type C1263859
DISO_to_DISOmapped_toimg Distal myopathy, Swedish type C2931290
DISO_to_DISOmapped_toimg Hereditary myoclonus and progressive distal muscular atrophy C1834569
DISO_to_DISOmapped_toimg Miyoshi myopathy C1850808
DISO_to_DISOmapped_toimg NONAKA MYOPATHY C1853926
DISO_to_DISOmapped_toimg TIBIAL MUSCULAR DYSTROPHY, TARDIVE C1838244
DISO_to_GENEgene_associated_with_diseaseimg DYSF gene C1414209
DISO_to_GENEgene_associated_with_diseaseimg DYSF wt Allele C2986625
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanGNE10020glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
img GENERIF, Score=1000, Pubmed Id: 17704511, UMLKSK CUI: C0751336
img GENERIF, Score=1000, Pubmed Id: 16810679, UMLKSK CUI: C0751336
img GENERIF, Score=1000, Pubmed Id: 12177386, UMLKSK CUI: C0751336
img GENERIF, Score=1000, Pubmed Id: 17164266, UMLKSK CUI: C0751336
HumanMYOT9499myotilin
img GENERIF, Score=1000, Pubmed Id: 16674563, UMLKSK CUI: C0751336
HumanDYSF8291dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
img GENERIF, Score=861, Pubmed Id: 12836053, UMLKSK CUI: C0751336
img OMIM, Score=1000, UMLKSK CUI: C0751336
HumanCAV3859caveolin 3
img GENERIF, Score=1000, Pubmed Id: 12939441, UMLKSK CUI: C0751336
img GENERIF, Score=901, Pubmed Id: 11805270, UMLKSK CUI: C0751336
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751336Distal Myopathies0self