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Details
Link-It Detail - Disease - Distal limb muscle weakness
Debug Stats
  • ### Total Build Time: 13 ms 26.253 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 352 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=1 ms Completed: 1 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= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 24.574 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Distal limb muscle weakness C1836526
Genes (28)

Species:
human : 28
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSBF281846SET binding factor 2
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanPRX57716periaxin
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanGDAP154332ganglioside induced differentiation associated protein 1
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
img OMIM, Score=1000, UMLKSK CUI: C1836526
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanHSPB826353heat shock 22kDa protein 8
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanKIF1B23095kinesin family member 1B
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanSPTLC110558serine palmitoyltransferase, long chain base subunit 1
img OMIM, Score=982, UMLKSK CUI: C1836526
HumanNDRG110397N-myc downstream regulated 1
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanMFN29927mitofusin 2
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanLITAF9516lipopolysaccharide-induced TNF factor
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanMTMR28898myotubularin related protein 2
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanYARS8565tyrosyl-tRNA synthetase
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanGAN8139gigaxonin
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanPABPN18106poly(A) binding protein, nuclear 1
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanRAB7A7879RAB7A, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanPRPS15631phosphoribosyl pyrophosphate synthetase 1
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanPMP225376peripheral myelin protein 22
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanNEFL4747neurofilament, light polypeptide
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanNEB4703nebulin
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanNAGA4668N-acetylgalactosaminidase, alpha-
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanMPZ4359myelin protein zero
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanLMNA4000lamin A/C
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanHSPB13315heat shock 27kDa protein 1
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanGJB12705gap junction protein, beta 1, 32kDa
img OMIM, Score=1000, UMLKSK CUI: C1836526
HumanGARS2617glycyl-tRNA synthetase
img OMIM, Score=1000, UMLKSK CUI: C1836526
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836526Distal limb muscle weakness0self