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Details
Link-It Detail - Disease - 270 CONGENITAL DEFICIENCIES
Debug Stats
  • ### Total Build Time: 142 ms 21.582 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=136 ms Completed: 136 ms rowSize= 13.129 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.878 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
270 CONGENITAL DEFICIENCIES C0333006
Relationships (255)

Relation Types:
diso_​to_​diso : 255


Relationships:
associated_​with : 255
Page Size
Current 25
  Page 1 of 11
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOassociated_withimg 1, Fucosidosis Type C0268221
DISO_to_DISOassociated_withimg 1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY C0268530
DISO_to_DISOassociated_withimg 11 beta-hydroxylase deficiency C0268292
DISO_to_DISOassociated_withimg 17 Beta-hydroxysteroid dehydrogenase deficiency C0268296
DISO_to_DISOassociated_withimg 17 alpha-Hydroxylase deficiency C0268285
DISO_to_DISOassociated_withimg 17 alpha-Hydroxyprogesterone aldolase deficiency C0342473
DISO_to_DISOassociated_withimg 20,22-Desmolase deficiency C0342474
DISO_to_DISOassociated_withimg 21-hydroxylase deficiency, salt wasting type C0268291
DISO_to_DISOassociated_withimg 3 Methylcrotonyl-CoA carboxylase deficiency C0268600
DISO_to_DISOassociated_withimg 3 beta-HSD deficiency C0342471
DISO_to_DISOassociated_withimg 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency C0268297
DISO_to_DISOassociated_withimg 4 hydroxybutyric aciduria C0268631
DISO_to_DISOassociated_withimg 5,10-Methylenetetrahydrofolate reductase deficiency C0268615
DISO_to_DISOassociated_withimg 7,8-Dihydrobiopterin synthetase deficiency C0268468
DISO_to_DISOassociated_withimg ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY C0086649
DISO_to_DISOassociated_withimg ACID PHOSPHATASE DEFICIENCY C0268410
DISO_to_DISOassociated_withimg ADA - Adenosine aminohydrolase deficiency C0268124
DISO_to_DISOassociated_withimg ADULT LACTASE DEFICIENCY C0268181
DISO_to_DISOassociated_withimg AKU C0002066
DISO_to_DISOassociated_withimg ALACTASIA, CONGENITAL C0268179
DISO_to_DISOassociated_withimg ALBINISM I C0268494
DISO_to_DISOassociated_withimg ARG1 DEFICIENCY C0268548
DISO_to_DISOassociated_withimg Abetalipoproteinemia C0000744
DISO_to_DISOassociated_withimg Abetalipoproteinemia neuropathy C2931925
DISO_to_DISOassociated_withimg Acanthocytosis C0687751
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanTBX199095T-box 19
img GENERIF, Score=913, Pubmed Id: 15666849, UMLKSK CUI: C0333006
HumanPLG5340plasminogen
img GENERIF, Score=1000, Pubmed Id: 12692411, UMLKSK CUI: C0333006
HumanHP3240haptoglobin
img GENERIF, Score=913, Pubmed Id: 17764509, UMLKSK CUI: C0333006
HumanF122161coagulation factor XII (Hageman factor)
img GENERIF, Score=897, Pubmed Id: 18710647, UMLKSK CUI: C0333006
HumanF52153coagulation factor V (proaccelerin, labile factor)
img GENERIF, Score=913, Pubmed Id: 12757640, UMLKSK CUI: C0333006
HumanCYP19A11588cytochrome P450, family 19, subfamily A, polypeptide 1
img GENERIF, Score=913, Pubmed Id: 17400043, UMLKSK CUI: C0333006
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0333006270 CONGENITAL DEFICIENCIES0self