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Details
Link-It Detail - Disease - Brain Diseases, Metabolic
Debug Stats
  • ### Total Build Time: 40 ms 40.517 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 393 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=0 Completed: 0 ms rowSize= 986 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 3.572 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.799 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 12.942 KB
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 18.146 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Brain Diseases, Metabolic C0006112
Definition (1)
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Metabolic Diseases C0025517
img Brain Diseases C0006111
Children (8)
img Myelinolysis, Central Pontine C0206083
img Kernicterus C0022610
img Hepatic Encephalopathy C0019151
img Marchiafava-Bignami Disease C0238265
img Mitochondrial Encephalomyopathies C0162666
img Brain Diseases, Metabolic, Inborn C0752109
img Reye Syndrome C0035400
img Wernicke Encephalopathy C0043121
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255173img Metabolic Diseases C0025517
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Brain Diseases C0006111
Relationships (55)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 5
diso_​to_​diso : 38
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 42
classifies : 2
isa : 8
mapped_​to : 2
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT58img Brain C0006104
DISO_to_DISO53img Complication Aspects C1171258
DISO_to_DISO36img chemically induced C0007994
DISO_to_PHEN34img genetic aspects C0017399
DISO_to_ANAT28img Brain C0006104
DISO_to_DISO23img HYPERAMMONAEMIA C0220994
DISO_to_DISO20img Oxidative Stress C0242606
DISO_to_ANAT19img In Blood C0005768
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_DISO17img Mitochondrial Diseases C0751651
DISO_to_ANAT16img Cerebral Cortex C0007776
DISO_to_DISO16img chemically induced C0007994
DISO_to_DISO15img HYPERAMMONAEMIA C0220994
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_PHYS13img Energy Metabolism C0014272
DISO_to_DISO12img Cognition Disorders C0009241
DISO_to_DISO12img Hyponatremia C0020625
DISO_to_DISO11img AA METAB DIS INBORN C0002514
DISO_to_DISO11img Epilepsy C0014544
DISO_to_ANAT9img Mitochondria C0026237
DISO_to_DISO9img Neurodegenerative Diseases C0524851
DISO_to_CHEM8img Valproic Acid C0042291
DISO_to_ANAT7img Hippocampus C0019564
DISO_to_DISO7img Brain Injuries C0270611
DISO_to_DISO7img Hashimoto Disease C0677607
Genes (129)

Species:
human : 129
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNAGS162417N-acetylglutamate synthase
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanEXOSC6118460exosome component 6
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanGFM284340G elongation factor, mitochondrial 2
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanACSBG281616acyl-CoA synthetase bubblegum family member 2
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNLGN4X57502neuroligin 4, X-linked
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanMCOLN157192mucolipin 1
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNLGN354413neuroligin 3
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanPTPN2226191protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanCLEC16A23274C-type lectin domain family 16, member A
INFERRED, Score=800, UMLKSK CUI: C0006112
HumanACSBG123205acyl-CoA synthetase bubblegum family member 1
INFERRED, Score=800, UMLKSK CUI: C0006112
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0006112Brain Diseases, Metabolic0self