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Details
Link-It Detail - Disease - Distal muscle weakness
Debug Stats
  • ### Total Build Time: 12 ms 15.938 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 1.115 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 13.263 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Distal muscle weakness C0427065
Relationships (1)

Relation Types:
diso_​to_​diso : 1


Relationships:
isa : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Weakness of distal arms and legs C0427066
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanPLEKHG557449pleckstrin homology domain containing, family G (with RhoGef domain) member 5
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanSACS26278spastic ataxia of Charlevoix-Saguenay (sacsin)
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanSETX23064senataxin
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanGNE10020glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanMYOT9499myotilin
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanTCAP8557titin-cap
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanTTN7273titin
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanSOX106663SRY (sex determining region Y)-box 10
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanIGHMBP23508immunoglobulin mu binding protein 2
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanDES1674desmin
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanCRYAB1410crystallin, alpha B
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanCOL6A31293collagen, type VI, alpha 3
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanCOL6A21292collagen, type VI, alpha 2
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanCOL6A11291collagen, type VI, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0427065
HumanBIN1274bridging integrator 1
img OMIM, Score=1000, UMLKSK CUI: C0427065
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0427065Distal muscle weakness0self