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Details
Link-It Detail - Disease - Metabolic Diseases
Debug Stats
  • ### Total Build Time: 193 ms 44.881 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 319 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 570 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 7.461 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.137 KB
  • CONCEPT_RELATIONSHIPS gt=104 ms Completed: 104 ms rowSize= 14.341 KB
  • CONCEPT_GENES gt=77 ms Completed: 77 ms rowSize= 19.385 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Metabolic Diseases C0025517
Definition (1)
A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Nutritional and Metabolic Diseases C0028715
Children (17)
img Mitochondrial Diseases C0751651
img DNA Repair-Deficiency Disorders C1563696
img Calcium Metabolism Disorders C0006705
img Proteostasis Deficiencies C2718000
img Metabolism, Inborn Errors C0025521
img Wasting Syndrome C0043046
img Metabolic Syndrome X C0524620
img Iron Metabolism Disorders C0012715
img Skin Diseases, Metabolic C0037279
img Lipid Metabolism Disorders C0154251
img Malabsorption Syndromes C0024523
img Brain Diseases, Metabolic C0006112
img Water-Electrolyte Imbalance C0043065
img Phosphorus Metabolism Disorders C0031707
img Acid-Base Imbalance C0001118
img Porphyrias C0032708
img Glucose Metabolism Disorders C1257958
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C00287152img Nutritional and Metabolic Diseases C0028715
Relationships (238)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 38
diso_​to_​diso : 172
diso_​to_​gene : 1
diso_​to_​phen : 3
diso_​to_​phys : 15


Relationships:
none : 104
associated_​with : 10
classifies : 2
isa : 67
mapped_​to : 38
may_​diagnose : 1
may_​treat : 9
related_​to : 7
Page Size
Current 25
  Page 1 of 10
Prior Page
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN195img genetic aspects C0017399
DISO_to_DISO186img Complication Aspects C1171258
DISO_to_DISO168img Cardiovascular Diseases C0007222
DISO_to_DISO115img Obesity C0028754
DISO_to_DISO107img Complication Aspects C1171258
DISO_to_DISO100img chemically induced C0007994
DISO_to_ANAT98img In Blood C0005768
DISO_to_PHEN89img genetic aspects C0017399
DISO_to_ANAT52img In Blood C0005768
DISO_to_CHEM50img ANTIPSYCHOTICS C0040615
DISO_to_DISO47img Endocrine System Diseases C0014130
DISO_to_DISO40img HIV Infections C0019693
DISO_to_DISO38img Cardiovascular Diseases C0007222
DISO_to_DISO36img HIV Infections C0019693
DISO_to_DISO35img Obesity C0028754
DISO_to_DISO30img Neoplasms C0027651
DISO_to_DISO30img chemically induced C0007994
DISO_to_DISO28img Endocrine System Diseases C0014130
DISO_to_DISO27img Insulin Resistance C0021655
DISO_to_DISO27img Schizophrenia C0036341
DISO_to_PHYS27img Energy Metabolism C0014272
DISO_to_DISO25img Inflammation C0021368
DISO_to_ANAT23img Adipose Tissue C0001527
DISO_to_PHYS23img Lipid Metabolism C0598783
DISO_to_DISO21img Heart Diseases C0018799
Genes (1264)

Species:
human : 1264
Page Size
Current 25
  Page 1 of 51
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanNIDDM4100188782Diabetes mellitus, noninsulin-dependent
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanKIR2DS2100132285killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanZGLP1100125288zinc finger, GATA-like protein 1
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanSFTPA1653509surfactant protein A1
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanLOC643387643387TAR DNA binding protein pseudogene
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanSUMO4387082small ubiquitin-like modifier 4
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanZFP57346171ZFP57 zinc finger protein
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanVWA2340706von Willebrand factor A domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanGPIHBP1338328glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanSLC29A4222962solute carrier family 29 (equilibrative nucleoside transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanHIST1H2AA221613histone cluster 1, H2aa
INFERRED, Score=800, UMLKSK CUI: C0025517
HumanCRTC2200186CREB regulated transcription coactivator 2
img GENERIF, Score=901, Pubmed Id: 18926585, UMLKSK CUI: C0025517
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0025517
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0025517Metabolic Diseases0self