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Details
Link-It Detail - Human Phenotype - Abnormality of macular pigmentation
Debug Stats
  • ### Total Build Time: 37 ms 14.312 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 210 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=5 ms Completed: 5 ms rowSize= 446 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 1.733 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 2.089 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 8.675 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of macular pigmentation HP:0008002
Parents (1)
img Abnormality of the macula HP:0001103
Children (5)
img Bull's eye maculopathy HP:0011504
img Macular retinal pigment epithelial mottling HP:0007793
img Macular hypopigmentation HP:0007988
img Foveal hyperpigmentation HP:0008001
img Macular hyperpigmentation HP:0011509
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the macula HP:0001103
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the macula HP:0001103
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanLCR-OPSIN100534624
img HP PCS, OMIM ID: 303700
HumanRD3343035retinal degeneration 3
img HP IEA, OMIM ID: 610612
HumanRIMS122999regulating synaptic membrane exocytosis 1
img HP RolledUp, OMIM ID: 603649
HumanPROM18842prominin 1
img HP RolledUp, OMIM ID: 608051
HumanBEST17439bestrophin 1
img HP RolledUp, OMIM ID: 153870
HumanOPN1LW5956opsin 1 (cone pigments), long-wave-sensitive
img HP PCS, OMIM ID: 303700
HumanPAX25076paired box 2
img HP RolledUp, OMIM ID: 120330
HumanMCDR14167macular dystrophy, retinal, 1 (North Carolina type)
img HP IEA, OMIM ID: 136550
HumanHEXA3073hexosaminidase A (alpha polypeptide)
HumanOPN1MW2652opsin 1 (cone pigments), medium-wave-sensitive
img HP PCS, OMIM ID: 303700
HumanCACNA1F778calcium channel, voltage-dependent, L type, alpha 1F subunit
img HP PCS, OMIM ID: 300476
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0008002Abnormality of macular pigmentation0self