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Details
Link-It Detail - Human Phenotype - Abnormal electroretinogram
Debug Stats
  • ### Total Build Time: 39 ms 30.479 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 315 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=10 ms Completed: 10 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=1 ms Completed: 1 ms rowSize= 446 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.137 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.088 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 23.149 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal electroretinogram HP:0000512
Definition (1)
The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG.
Parents (1)
img Abnormality of the retina HP:0000479
Children (9)
img Absent rod-and cone-mediated responses on ERG HP:0007688
img Abnormal rod and cone electroretinograms HP:0008323
img Absent cone and rod functions by electroretinogram HP:0008280
img Reduced amplitude of b-wave (ERG) HP:0007984
img Decreased electrooculogram (EOG) HP:0008179
img Decreased electroretinogram (ERG) amplitude HP:0000654
img Abolished electroretinogram (ERG) HP:0000550
img No light-evoked response on electroretinogram HP:0008042
img Abnormal cone-mediated electroretinogram HP:0008275
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the retina HP:0000479
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the retina HP:0000479
Genes (98)

Species:
human : 98
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBED100653365Bornholm eye disease
img HP RolledUp, OMIM ID: 300843
HumanLCR-OPSIN100534624
img HP TAS, OMIM ID: 303700
HumanPRCD768206progressive rod-cone degeneration
img HP RolledUp, OMIM ID: 610599
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
img HP RolledUp, OMIM ID: 609055
HumanC2orf71388939chromosome 2 open reading frame 71
img HP TAS, OMIM ID: 613428
HumanCERKL375298ceramide kinase-like
img HP RolledUp, OMIM ID: 608380
HumanEYS346007eyes shut homolog (Drosophila)
img HP RolledUp, OMIM ID: 602772
HumanSLSN3260432Senior-Loken syndrome 3
img HP RolledUp, OMIM ID: 606995
HumanLCA5167691Leber congenital amaurosis 5
img HP RolledUp, OMIM ID: 604537
HumanBBS12166379Bardet-Biedl syndrome 12
img HP TAS, OMIM ID: 209900
HumanZNF513130557zinc finger protein 513
img HP RolledUp, OMIM ID: 613617
HumanBBS5129880Bardet-Biedl syndrome 5
img HP TAS, OMIM ID: 209900
HumanTTC8123016tetratricopeptide repeat domain 8
img HP RolledUp, OMIM ID: 613464
img HP TAS, OMIM ID: 209900
HumanCACNA2D493589calcium channel, voltage-dependent, alpha 2/delta subunit 4
img HP RolledUp, OMIM ID: 610478
HumanTMEM6791147transmembrane protein 67
img HP TAS, OMIM ID: 209900
HumanARL684100ADP-ribosylation factor-like 6
img HP TAS, OMIM ID: 209900
HumanHMCN183872hemicentin 1
img HP RolledUp, OMIM ID: 609033
HumanMFRP83552membrane frizzled-related protein
img HP RolledUp, OMIM ID: 611040
HumanCEP29080184centrosomal protein 290kDa
img HP TAS, OMIM ID: 209900
HumanBBS1079738Bardet-Biedl syndrome 10
img HP TAS, OMIM ID: 209900
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 253280
HumanCCDC28B79140coiled-coil domain containing 28B
img HP TAS, OMIM ID: 209900
HumanMCOLN157192mucolipin 1
img HP TAS, OMIM ID: 252650
HumanRPGRIP157096retinitis pigmentosa GTPase regulator interacting protein 1
img HP RolledUp, OMIM ID: 608194
img HP RolledUp, OMIM ID: 613826
HumanCABP457010calcium binding protein 4
img HP RolledUp, OMIM ID: 610427
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000512Abnormal electroretinogram0self