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Details
Link-It Detail - Disease - Lysosomal Storage Diseases, Nervous System
Debug Stats
  • ### Total Build Time: 130 ms 32.428 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 447 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 395 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=67 ms Completed: 67 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,013 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.257 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 6.782 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 3.044 KB
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 17.146 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Lysosomal Storage Diseases, Nervous System C0751738
LYSOSOMAL ENZYME DIS NERVOUS SYSTEM
Definition (1)
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Lysosomal Storage Diseases C0085078
img Brain Diseases, Metabolic, Inborn C0752109
Children (5)
img Sialic Acid Storage Disease C0342853
img Glycogen Storage Disease Type II C0017921
img Fucosidosis C0016788
img Mucolipidoses C0026697
img Sphingolipidoses C0037899
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lysosomal Storage Diseases C0085078
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lysosomal Storage Diseases C0085078
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
Relationships (5)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 2
diso_​to_​phen : 2


Relationships:
none : 4
entry_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_ANAT3img Brain C0006104
DISO_to_DISO3img Neurodegenerative Diseases C0524851
DISO_to_DISOentry_version_ofimg LYSOSOMAL ENZYME DIS NERVOUS SYSTEM C0751738
Genes (36)

Species:
human : 36
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanMCOLN157192mucolipin 1
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanNPC210577Niemann-Pick disease, type C2
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanRAB9A9367RAB9A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanRAB7A7879RAB7A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanVIM7431vimentin
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanUGCG7357UDP-glucose ceramide glucosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanTLR47099toll-like receptor 4
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanSREBF26721sterol regulatory element binding transcription factor 2
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanSLC6A46532solute carrier family 6 (neurotransmitter transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanCCL186362chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanRAB4A5867RAB4A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanPSAP5660prosaposin
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanNPC14864Niemann-Pick disease, type C1
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanNAGA4668N-acetylgalactosaminidase, alpha-
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanMTX14580metaxin 1
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanIL63569interleukin 6 (interferon, beta 2)
INFERRED, Score=800, UMLKSK CUI: C0751738
HumanHEXB3074hexosaminidase B (beta polypeptide)
INFERRED, Score=800, UMLKSK CUI: C0751738
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751738Lysosomal Storage Diseases, Nervous System0self