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Details
Link-It Detail - Disease - Alport Syndrome
Debug Stats
  • ### Total Build Time: 27 ms 12.049 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 371 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
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  • 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=10 ms Completed: 10 ms rowSize= 7.071 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 3.075 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Alport Syndrome C1567741
Definition (1)
hereditary disorder characterized by progressive sensorineural hearing loss, progressive pyelonephritis or glomerulonephritis, and, occasionally, ocular defects; transmitted as an autosomal dominant or X-linked trait.
Relationships (13)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 7
diso_​to_​gene : 4


Relationships:
associated_​with : 3
clinically_​similar : 3
gene_​associated_​with_​disease : 4
gene_​product_​malfunction_​associated_​with_​disease : 1
location_​of : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Kidney C0022646
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Col4A3 protein, human C1314894
DISO_to_DISOclinically_similarimg AORF C0403443
DISO_to_DISOpermuted_term_ofimg Alport Syndrome C1567741
DISO_to_DISOclinically_similarimg Alport syndrome-like hereditary nephritis C0403444
DISO_to_DISOassociated_withimg Deafness C0011053
DISO_to_DISOassociated_withimg Disease C0012634
DISO_to_DISOassociated_withimg Hematuria C0018965
DISO_to_DISOclinically_similarimg Hereditary nephritis C0027706
DISO_to_GENEgene_associated_with_diseaseimg COL4A3 gene C1332774
DISO_to_GENEgene_associated_with_diseaseimg COL4A3 wt Allele C1704812
DISO_to_GENEgene_associated_with_diseaseimg COL4A5 gene C1413586
DISO_to_GENEgene_associated_with_diseaseimg COL4A5 wt Allele C2347281
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanMYH94627myosin, heavy chain 9, non-muscle
img OMIM, Score=1000, UMLKSK CUI: C1567741
HumanCOL4A61288collagen, type IV, alpha 6
img OMIM, Score=1000, UMLKSK CUI: C1567741
HumanCOL4A51287collagen, type IV, alpha 5
img OMIM, Score=1000, UMLKSK CUI: C1567741
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1567741Alport Syndrome0self