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Details
Link-It Detail - Disease - Achromatopsia
Debug Stats
  • ### Total Build Time: 30 ms 13.319 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 403 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=14 ms Completed: 14 ms rowSize= 2.865 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 8.526 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Achromatopsia C0152200
Definition (1)
An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision.
Relationships (5)

Relation Types:
diso_​to_​diso : 5


Relationships:
classifies : 1
mapped_​to : 3
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmapped_toimg 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_DISOmapped_toimg Cone monochromatism C0339537
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanCNGB354714cyclic nucleotide gated channel beta 3
img GENERIF, Score=694, Pubmed Id: 14757870, UMLKSK CUI: C0152200
img GENERIF, Score=1000, Pubmed Id: 15657609, UMLKSK CUI: C0152200
img GENERIF, Score=1000, Pubmed Id: 16319819, 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=755, Pubmed Id: 15712225, UMLKSK CUI: C0152200
img GENERIF, Score=1000, Pubmed Id: 18445228, UMLKSK CUI: C0152200
img GENERIF, Score=1000, Pubmed Id: 18636117, UMLKSK CUI: C0152200
img GENERIF, Score=694, Pubmed Id: 14757870, UMLKSK CUI: C0152200
img GENERIF, Score=694, Pubmed Id: 18521937, UMLKSK CUI: C0152200
XRefs (1)

XRef Types:
cui : 1


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