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Details
Link-It Detail - Disease - Carbohydrate Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 95 ms 41.423 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 425 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 310 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=8 ms Completed: 8 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 5.754 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 12.688 KB
  • CONCEPT_GENES gt=33 ms Completed: 33 ms rowSize= 17.483 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Carbohydrate Metabolism, Inborn Errors C0007001
CARB METAB INBORN ERR
Definition (1)
condition in which there is a deviation or interruption in the processing of carbohydrates in the body, its absorption, transport, storage, and utilization.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Children (13)
img Congenital Disorders of Glycosylation C0282577
img Glycogen Storage Disease C0017919
img Glucosephosphate Dehydrogenase Deficiency C0017758
img Mannosidase Deficiency Diseases C1257960
img Multiple Carboxylase Deficiency C0026755
img Pyruvate Metabolism, Inborn Errors C0034350
img Fucosidosis C0016788
img Hyperoxaluria, Primary C0020501
img Fructose Metabolism, Inborn Errors C0016752
img Mucolipidoses C0026697
img Mucopolysaccharidoses C0026703
img Galactosemias C0016952
img Lactose Intolerance C0022951
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (26)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 6
diso_​to_​diso : 12
diso_​to_​phen : 4
diso_​to_​phys : 2


Relationships:
none : 16
entry_​version_​of : 1
mapped_​to : 6
use : 3
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN60img genetic aspects C0017399
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM12img GLUT-1 protein C0168458
DISO_to_CHEM12img Glucose Transporter Type 1 C0168458
DISO_to_CHEM11img Polysaccharides C0032594
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT10img In Blood C0005768
DISO_to_ANAT9img In Blood C0005768
DISO_to_CHEM9img Monosaccharide Transport Proteins C0026491
DISO_to_CHEM9img Phosphotransferases (Phosphomutases) C0206356
DISO_to_PHEN9img Glycosylation C0017982
DISO_to_PHYS8img Mutation C0026882
DISO_to_CHEM7img Mannosyltransferases C0024750
DISO_to_PHEN7img Glycosylation C0017982
DISO_to_PHYS7img Mutation C0026882
DISO_to_DISOentry_version_ofimg CARB METAB INBORN ERR C0007001
DISO_to_DISOmapped_toimg CSID C1283620
DISO_to_DISOmapped_toimg D-GLYCERIC ACIDEMIA C1291386
DISO_to_DISOuseimg DISACCHARIDE INTOLERANCE C0239189
DISO_to_DISOmapped_toimg De Vivo disease C1847501
DISO_to_DISOmapped_toimg Deficiency of glycerol kinase C0268418
DISO_to_DISOmapped_toimg Deficiency of phosphoenolpyruvate carboxykinase (GTP) C0268194
DISO_to_DISOuseimg Lactose Intolerance C0022951
DISO_to_DISOmapped_toimg Pentosuria C0268162
Genes (58)

Species:
human : 58
Page Size
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanG6PC257818glucose-6-phosphatase, catalytic, 2
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanMCOLN157192mucolipin 1
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPRKAG251422protein kinase, AMP-activated, gamma 2 non-catalytic subunit
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanGRHPR9380glyoxylate reductase/hydroxypyruvate reductase
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanVWF7450von Willebrand factor
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanUGT87368UDP glycosyltransferase 8
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanTGFB17040transforming growth factor, beta 1
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanSLC2A46517solute carrier family 2 (facilitated glucose transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanSGSH6448N-sulfoglucosamine sulfohydrolase
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPYGM5837phosphorylase, glycogen, muscle
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPHKB5257phosphorylase kinase, beta
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPFKM5213phosphofructokinase, muscle
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPDHB5162pyruvate dehydrogenase (lipoamide) beta
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanPC5091pyruvate carboxylase
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanNAGLU4669N-acetylglucosaminidase, alpha
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanMCM64175minichromosome maintenance complex component 6
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanLCT3938lactase
INFERRED, Score=800, UMLKSK CUI: C0007001
HumanLAMP23920lysosomal-associated membrane protein 2
INFERRED, Score=800, UMLKSK CUI: C0007001
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0007001Carbohydrate Metabolism, Inborn Errors0self