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Details
Link-It Detail - Disease - Axonal Neuropathy
Debug Stats
  • ### Total Build Time: 10 ms 21.369 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 332 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= 3.234 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 16.589 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Axonal Neuropathy C0270921
Relationships (5)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 3


Relationships:
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Peripheral Nerves C0031119
DISO_to_DISOisaimg Axonal sensorimotor neuropathy C0393907
DISO_to_DISOisaimg GIANT AXONAL NEUROPATHY 1 C1850386
DISO_to_DISOisaimg Peripheral axonal neuropathy C1263857
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanTDP155775tyrosyl-DNA phosphodiesterase 1
img GENERIF, Score=1000, Pubmed Id: 16935573, UMLKSK CUI: C0270921
img GENERIF, Score=1000, Pubmed Id: 12244316, UMLKSK CUI: C0270921
img GENERIF, Score=1000, Pubmed Id: 17948061, UMLKSK CUI: C0270921
HumanATL151062atlastin GTPase 1
img GENERIF, Score=1000, Pubmed Id: 15742100, UMLKSK CUI: C0270921
HumanHSPB826353heat shock 22kDa protein 8
img OMIM, Score=1000, UMLKSK CUI: C0270921
HumanSETX23064senataxin
img OMIM, Score=882, UMLKSK CUI: C0270921
HumanCCT522948chaperonin containing TCP1, subunit 5 (epsilon)
img OMIM, Score=1000, UMLKSK CUI: C0270921
HumanSPTLC110558serine palmitoyltransferase, long chain base subunit 1
img OMIM, Score=882, UMLKSK CUI: C0270921
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C0270921
HumanMFN29927mitofusin 2
img GENERIF, Score=897, Pubmed Id: 18425620, UMLKSK CUI: C0270921
img GENERIF, Score=840, Pubmed Id: 18458227, UMLKSK CUI: C0270921
HumanGAN8139gigaxonin
img OMIM, Score=882, UMLKSK CUI: C0270921
HumanMPZ4359myelin protein zero
img GENERIF, Score=1000, Pubmed Id: 16856127, UMLKSK CUI: C0270921
HumanLMNA4000lamin A/C
img OMIM, Score=1000, UMLKSK CUI: C0270921
img GENERIF, Score=861, Pubmed Id: 11799477, UMLKSK CUI: C0270921
HumanHSPB13315heat shock 27kDa protein 1
img OMIM, Score=882, UMLKSK CUI: C0270921
HumanHMBS3145hydroxymethylbilane synthase
img GENERIF, Score=875, Pubmed Id: 11940707, UMLKSK CUI: C0270921
HumanDNM21785dynamin 2
img GENERIF, Score=892, Pubmed Id: 17636067, UMLKSK CUI: C0270921
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0270921Axonal Neuropathy0self