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Details
Link-It Detail - Human Phenotype - Abnormality of color vision
Debug Stats
  • ### Total Build Time: 34 ms 30.299 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 202 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 224 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=5 ms Completed: 5 ms rowSize= 442 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 2.622 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.080 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 23.583 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of color vision HP:0000551
Definition (1)
An anomaly in the ability to discriminate between or recognize colors.
Parents (1)
img Abnormality of vision HP:0000504
Children (8)
img Monochromacy HP:0007803
img red series defect HP:0200019
img Protanomaly HP:0200018
img Blue cone monochromacy HP:0007939
img Dyschromatopsia HP:0007641
img Tritanomaly HP:0000552
img Poor color discrimination HP:0007954
img Red-green dyschromatopsia HP:0000642
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of vision HP:0000504
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of vision HP:0000504
Genes (28)

Species:
human : 28
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBED100653365Bornholm eye disease
img HP RolledUp, OMIM ID: 300843
HumanLCR-OPSIN100534624
img HP TAS, OMIM ID: 303700
HumanOPA6777778optic atrophy 6 (autosomal recessive)
img HP RolledUp, OMIM ID: 258500
HumanOPA5692222optic atrophy 5 (autosomal dominant)
img HP RolledUp, OMIM ID: 610708
HumanLCRB387281locus control region, beta
img HP TAS, OMIM ID: 613985
HumanCDHR192211cadherin-related family member 1
img HP IEA, OMIM ID: 613660
HumanRPGRIP157096retinitis pigmentosa GTPase regulator interacting protein 1
img HP TAS, OMIM ID: 608194
HumanCNGB354714cyclic nucleotide gated channel beta 3
img HP RolledUp, OMIM ID: 262300
HumanCNNM426504cyclin M4
img HP TAS, OMIM ID: 217080
HumanRIMS122999regulating synaptic membrane exocytosis 1
img HP IEA, OMIM ID: 603649
HumanNR2E310002nuclear receptor subfamily 2, group E, member 3
img HP RolledUp, OMIM ID: 611131
HumanMFN29927mitofusin 2
img HP IEA, OMIM ID: 601152
HumanPROM18842prominin 1
img HP IEA, OMIM ID: 608051
HumanBEST17439bestrophin 1
img HP IEA, OMIM ID: 153870
img HP IEA, OMIM ID: 193220
HumanRLBP16017retinaldehyde binding protein 1
img HP PCS, OMIM ID: 607476
HumanOPN1LW5956opsin 1 (cone pigments), long-wave-sensitive
img HP RolledUp, OMIM ID: 303900
img HP TAS, OMIM ID: 303700
HumanPOLG5428polymerase (DNA directed), gamma
img HP RolledUp, OMIM ID: 258450
HumanPDE6H5149phosphodiesterase 6H, cGMP-specific, cone, gamma
img HP RolledUp, OMIM ID: 610024
HumanOPA14976optic atrophy 1 (autosomal dominant)
img HP RolledUp, OMIM ID: 165500
img HP RolledUp, OMIM ID: 125250
HumanGPR1434935G protein-coupled receptor 143
img HP TAS, OMIM ID: 300500
HumanHBB3043hemoglobin, beta
img HP TAS, OMIM ID: 613985
HumanGUCY2D3000guanylate cyclase 2D, membrane (retina-specific)
img HP IEA, OMIM ID: 601251
HumanGNAT22780guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
img HP RolledUp, OMIM ID: 613856
HumanOPN1MW2652opsin 1 (cone pigments), medium-wave-sensitive
img HP IEA, OMIM ID: 303800
img HP TAS, OMIM ID: 303700
HumanCNGA31261cyclic nucleotide gated channel alpha 3
img HP RolledUp, OMIM ID: 216900
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000551Abnormality of color vision0self