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Details
Link-It Detail - Human Phenotype - Abnormal retinal pigmentation
Debug Stats
  • ### Total Build Time: 39 ms 28.145 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 204 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 466 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.436 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 2.128 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 22.759 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal retinal pigmentation HP:0007703
Parents (1)
img Abnormality of the retinal pigment epithelium HP:0008051
Children (4)
img Retinitis pigmentosa HP:0000510
img Decreased retinal pigmentation with dispersion HP:0007659
img Peripheral retinal pigmentation abnormalities HP:0200099
img Achromatic retinal patches HP:0009727
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the retinal pigment epithelium HP:0008051
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the retinal pigment epithelium HP:0008051
Genes (184)

Species:
human : 184
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUSH1K101180907Usher syndrome 1K (autosomal recessive)
img HP RolledUp, OMIM ID: 614990
HumanDEL8Q21.11100689491
img HP TAS, OMIM ID: 614230
HumanBED100653365Bornholm eye disease
img HP IEA, OMIM ID: 300843
HumanLCR-OPSIN100534624
img HP TAS, OMIM ID: 303700
HumanDELXP11.3100271686
img HP TAS, OMIM ID: 300578
HumanDFCTRPS100188774Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
img HP RolledUp, OMIM ID: 300719
HumanPRCD768206progressive rod-cone degeneration
img HP RolledUp, OMIM ID: 610599
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
img HP RolledUp, OMIM ID: 609055
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP TAS, OMIM ID: 601675
HumanC2orf71388939chromosome 2 open reading frame 71
img HP RolledUp, OMIM ID: 268000
HumanEYS346007eyes shut homolog (Drosophila)
img HP RolledUp, OMIM ID: 602772
HumanSUMF1285362sulfatase modifying factor 1
img HP TAS, OMIM ID: 272200
HumanNPHP4261734nephronophthisis 4
img HP RolledUp, OMIM ID: 606996
HumanFLCN201163folliculin
img HP TAS, OMIM ID: 135150
HumanBBS12166379Bardet-Biedl syndrome 12
img HP TAS, OMIM ID: 209900
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP TAS, OMIM ID: 216550
HumanC8orf37157657chromosome 8 open reading frame 37
img HP RolledUp, OMIM ID: 268000
HumanCLDN19149461claudin 19
img HP TAS, OMIM ID: 248190
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
img HP RolledUp, OMIM ID: 252930
HumanBBS5129880Bardet-Biedl syndrome 5
img HP TAS, OMIM ID: 209900
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
img HP RolledUp, OMIM ID: 606943
HumanTTC8123016tetratricopeptide repeat domain 8
img HP TAS, OMIM ID: 209900
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
img HP RolledUp, OMIM ID: 605670
HumanTMEM6791147transmembrane protein 67
img HP TAS, OMIM ID: 209900
HumanTUBGCP685378tubulin, gamma complex associated protein 6
img HP TAS, OMIM ID: 251270
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0007703Abnormal retinal pigmentation0self