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Details
Link-It Detail - Disease - Adult onset
Debug Stats
  • [ From Cache ]
  • ### Total Build Time: 67 ms 42.233 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 320 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=61 ms Completed: 61 ms rowSize= 40.602 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Adult onset C1836537
Genes (42)

Species:
human : 42
SpeciesGeneGeneIdGene NameEvidence
HumanNAGS162417N-acetylglutamate synthase
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img OMIM, Score=666, UMLKSK CUI: C1836537
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=882, UMLKSK CUI: C1836537
img OMIM, Score=882, UMLKSK CUI: C1836537
HumanAPTX54840aprataxin
img OMIM, Score=666, UMLKSK CUI: C1836537
HumanVSX130813visual system homeobox 1
img OMIM, Score=882, UMLKSK CUI: C1836537
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPLEKHG425894pleckstrin homology domain containing, family G (with RhoGef domain) member 4
img OMIM, Score=882, UMLKSK CUI: C1836537
HumanPOLG211232polymerase (DNA directed), gamma 2, accessory subunit
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanGNE10020glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanKIAA01969897KIAA0196
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanARHGEF109639Rho guanine nucleotide exchange factor (GEF) 10
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanMYOT9499myotilin
img OMIM, Score=1000, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanEIF2B58893eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanEIF2B28892eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanEIF2B38891eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanEIF2B48890eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=666, UMLKSK CUI: C1836537
HumanBFSP28419beaded filament structural protein 2, phakinin
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPABPN18106poly(A) binding protein, nuclear 1
img OMIM, Score=882, UMLKSK CUI: C1836537
HumanFGF238074fibroblast growth factor 23
img OMIM, Score=1000, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanTTN7273titin
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanTSC17248tuberous sclerosis 1
img OMIM, Score=666, UMLKSK CUI: C1836537
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanSDHC6391succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanSDHB6390succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPRPS15631phosphoribosyl pyrophosphate synthetase 1
img OMIM, Score=882, UMLKSK CUI: C1836537
HumanPRNP5621prion protein
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPPT15538palmitoyl-protein thioesterase 1
img OMIM, Score=716, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPOLG5428polymerase (DNA directed), gamma
img OMIM, Score=882, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPLG5340plasminogen
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanPHKA15255phosphorylase kinase, alpha 1 (muscle)
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanNOTCH34854notch 3
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanNAGA4668N-acetylgalactosaminidase, alpha-
img OMIM, Score=1000, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanGBA2629glucosidase, beta, acid
img OMIM, Score=666, UMLKSK CUI: C1836537
HumanGALC2581galactosylceramidase
img OMIM, Score=858, UMLKSK CUI: C1836537
HumanEIF2B11967eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanTOR1A1861torsin family 1, member A (torsin A)
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanCRYAB1410crystallin, alpha B
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanAUH549AU RNA binding protein/enoyl-CoA hydratase
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanARSA410arylsulfatase A
img OMIM, Score=1000, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
HumanSLC25A4291solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
img OMIM, Score=1000, UMLKSK CUI: C1836537
img OMIM, Score=1000, UMLKSK CUI: C1836537
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836537Adult onset0self