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Details
Link-It Detail - Disease - Achromatopsia
Debug Stats
  • ### Total Build Time: 76 ms 13.600 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 321 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= 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=51 ms Completed: 51 ms rowSize= 3.222 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 8.530 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Achromatopsia C0152200
Definition (1)
Severely deficient color perception, typically with monochromacy and reduced visual acuity. The atypical form can include normal visual acuity with pseudomonochromacy.
Relationships (5)

Relation Types:
diso_​to_​diso : 5


Relationships:
classifies : 1
expanded_​form_​of : 1
isa : 1
mapped_​to : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOexpanded_form_ofimg Achromatopsia C0152200
DISO_to_DISOmapped_toimg Achromatopsia 1 C0302129
DISO_to_DISOclassifiesimg Blindness and vision defects C0809996
DISO_to_DISOused_forimg Color blindness C0242225
DISO_to_DISOisaimg Cone monochromatism C0339537
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanCNGB354714cyclic nucleotide gated channel beta 3
img GENERIF, Score=1000, Pubmed Id: 15657609, UMLKSK CUI: C0152200
img GENERIF, Score=1000, Pubmed Id: 16319819, UMLKSK CUI: C0152200
img GENERIF, Score=694, Pubmed Id: 14757870, UMLKSK CUI: C0152200
img GAD, Score=1000, Pubmed Id: 15657609, UMLKSK CUI: C0152200
HumanGNAT22780guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
img GENERIF, Score=1000, Pubmed Id: 12077706, UMLKSK CUI: C0152200
HumanCNGA31261cyclic nucleotide gated channel alpha 3
img GENERIF, Score=1000, Pubmed Id: 18445228, UMLKSK CUI: C0152200
img GENERIF, Score=694, Pubmed Id: 14757870, UMLKSK CUI: C0152200
img GENERIF, Score=694, Pubmed Id: 18521937, UMLKSK CUI: C0152200
img GENERIF, Score=1000, Pubmed Id: 18636117, UMLKSK CUI: C0152200
img GENERIF, Score=755, Pubmed Id: 15712225, UMLKSK CUI: C0152200
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0152200Achromatopsia0self