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Details
Link-It Detail - Disease - Gaucher Disease
Debug Stats
  • ### Total Build Time: 66 ms 29.218 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 661 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.396 KB
  • CONCEPT_RELATIONSHIPS gt=38 ms Completed: 38 ms rowSize= 13.120 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 7.828 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gaucher Disease C0017205
Definition (1)
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Sphingolipidoses C0037899
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Sphingolipidoses C0037899
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Sphingolipidoses C0037899
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Sphingolipidoses C0037899
Relationships (46)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 18
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 36
associated_​with : 2
isa : 2
mapped_​to : 2
may_​treat : 2
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM218img GLUCOSYLCERAMIDASE C0017768
DISO_to_PHEN206img genetic aspects C0017399
DISO_to_DISO150img Complication Aspects C1171258
DISO_to_PHEN140img genetic aspects C0017399
DISO_to_CHEM119img GLUCOSYLCERAMIDASE C0017768
DISO_to_DISO109img Complication Aspects C1171258
DISO_to_ANAT47img In Blood C0005768
DISO_to_ANAT42img In Blood C0005768
DISO_to_PHYS35img Mutation C0026882
DISO_to_CHEM26img 1 Deoxynojirimycin C0089267
DISO_to_CHEM26img Enzyme Inhibitors C0014432
DISO_to_DISO24img Bone Diseases C0005940
DISO_to_PHYS21img Mutation C0026882
DISO_to_CHEM14img 1 Deoxynojirimycin C0089267
DISO_to_CHEM14img Glucosylceramides C0017770
DISO_to_CHEM14img beta-Glucosidase C0005223
DISO_to_DISO14img Bone Diseases C0005940
DISO_to_CHEM13img Hexosaminidases C0019484
DISO_to_DISO13img Parkinson Disease C0030567
DISO_to_CHEM11img Enzymes C0014442
DISO_to_CHEM11img Hexosaminidases C0019484
DISO_to_DISO11img Pregnancy Complications C0032962
DISO_to_DISO10img Parkinsonian Disorders C0242422
DISO_to_ANAT9img Macrophages C0024432
DISO_to_CHEM9img alpha-Synuclein C0285890
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
img GENERIF, Score=1000, Pubmed Id: 17996473, UMLKSK CUI: C0017205
HumanTNF7124tumor necrosis factor
img GENERIF, Score=1000, Pubmed Id: 15919211, UMLKSK CUI: C0017205
HumanMTX14580metaxin 1
img GENERIF, Score=1000, Pubmed Id: 15024629, UMLKSK CUI: C0017205
HumanIL63569interleukin 6 (interferon, beta 2)
img GAD, Score=1000, Pubmed Id: 12897342, UMLKSK CUI: C0017205
HumanGBA2629glucosidase, beta, acid
Click here to display 23 evidence detail records.
HumanACE1636angiotensin I converting enzyme
img GAD, Score=1000, Pubmed Id: 12359135, UMLKSK CUI: C0017205
HumanCHIT11118chitinase 1 (chitotriosidase)
img GENERIF, Score=1000, Pubmed Id: 17291472, UMLKSK CUI: C0017205
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017205Gaucher Disease0self