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Details
Link-It Detail - Disease - Decreased visual acuity
Debug Stats
  • ### Total Build Time: 49 ms 29.052 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 344 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=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=13 ms Completed: 13 ms rowSize= 2.722 KB
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 24.767 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Decreased visual acuity C0234632
Relationships (5)

Relation Types:
diso_​to_​phen : 5


Relationships:
isa : 5
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHENisaimg NLP - No light perception C0442774
DISO_to_PHENisaimg Visual acuity less than .02 (1/60, count fingers 1 meter) or visual field less than 5 degrees, but better than 5. C0234636
DISO_to_PHENisaimg Visual acuity less than .05 (3/30,20/400) or visual field than 10 degrees, but better than 4. C0234635
DISO_to_PHENisaimg Visual acuity less than .1 (6/60,20/200) or visual field less than 20 degrees, but better than 3. C0234634
DISO_to_PHENisaimg Visual acuity less than .3 (6/18,20/70), but better than 2. C0234633
Genes (36)

Species:
human : 36
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=909, UMLKSK CUI: C0234632
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=909, UMLKSK CUI: C0234632
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=909, UMLKSK CUI: C0234632
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=909, UMLKSK CUI: C0234632
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=909, UMLKSK CUI: C0234632
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanZFYVE2623503zinc finger, FYVE domain containing 26
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanTREX111277three prime repair exonuclease 1
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanHPS511234Hermansky-Pudlak syndrome 5
img OMIM, Score=909, UMLKSK CUI: C0234632
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanFZD48322frizzled family receptor 4
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanTYR7299tyrosinase
img OMIM, Score=1000, UMLKSK CUI: C0234632
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanTGFBI7045transforming growth factor, beta-induced, 68kDa
img OMIM, Score=1000, UMLKSK CUI: C0234632
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanELOVL46785ELOVL fatty acid elongase 4
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanSH3BP26452SH3-domain binding protein 2
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanRPGR6103retinitis pigmentosa GTPase regulator
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanRP26102retinitis pigmentosa 2 (X-linked recessive)
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanPITX35309paired-like homeodomain 3
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanOPA14976optic atrophy 1 (autosomal dominant)
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanOCA24948oculocutaneous albinism II
img OMIM, Score=1000, UMLKSK CUI: C0234632
HumanMITF4286microphthalmia-associated transcription factor
img OMIM, Score=1000, UMLKSK CUI: C0234632
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0234632Decreased visual acuity0self