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Details
Link-It Detail - Jax Mouse Phenotype - abnormal retinal pigmentation
Debug Stats
  • ### Total Build Time: 117 ms 24.180 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 386 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 270 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=6 ms Completed: 6 ms rowSize= 601 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 595 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 4.298 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=93 ms Completed: 93 ms rowSize= 16.762 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal retinal pigmentation MP:0005103
Definition (1)
anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
Parents (1)
img abnormal retinal pigment epithelium morphology MP:0005201
Children (1)
img abnormal retinal melanocyte morphology MP:0010190
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053917img abnormal retinal pigment epithelium morphology MP:0005201
img mammalian phenotype MP:0000001img pigmentation phenotype MP:00011867img abnormal retinal pigment epithelium morphology MP:0005201
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053919img abnormal retinal pigment epithelium morphology MP:0005201
Genes (31)

Species:
human : 31
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLC24A5283652solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
Click here to display 68 evidence detail records.
HumanNPHP4261734nephronophthisis 4
Click here to display 68 evidence detail records.
HumanLCA5167691Leber congenital amaurosis 5
Click here to display 68 evidence detail records.
HumanHPS384343Hermansky-Pudlak syndrome 3
Click here to display 68 evidence detail records.
HumanTRAPPC6A79090trafficking protein particle complex 6A
Click here to display 68 evidence detail records.
HumanKXD179036KxDL motif containing 1
INFERRED
HumanMDM156890Mdm1 nuclear protein homolog (mouse)
Click here to display 68 evidence detail records.
HumanBLOC1S455330biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Click here to display 68 evidence detail records.
HumanBLOC1S626258biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
INFERRED
HumanMERTK10461c-mer proto-oncogene tyrosine kinase
Click here to display 68 evidence detail records.
HumanHEPH9843hephaestin
Click here to display 68 evidence detail records.
HumanPROM18842prominin 1
Click here to display 68 evidence detail records.
HumanVLDLR7436very low density lipoprotein receptor
Click here to display 68 evidence detail records.
HumanPMEL6490premelanosome protein
INFERRED
HumanRPE656121retinal pigment epithelium-specific protein 65kDa
Click here to display 68 evidence detail records.
HumanRHO6010rhodopsin
Click here to display 68 evidence detail records.
HumanMED15469mediator complex subunit 1
Click here to display 68 evidence detail records.
HumanSERPINF15176serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
Click here to display 68 evidence detail records.
HumanPAX25076paired box 2
Click here to display 68 evidence detail records.
HumanGPR1434935G protein-coupled receptor 143
Click here to display 68 evidence detail records.
HumanNDP4693Norrie disease (pseudoglioma)
Click here to display 68 evidence detail records.
HumanMITF4286microphthalmia-associated transcription factor
Click here to display 68 evidence detail records.
HumanLMO74008LIM domain 7
Click here to display 68 evidence detail records.
HumanDCC1630deleted in colorectal carcinoma
Click here to display 68 evidence detail records.
HumanCX3CR11524chemokine (C-X3-C motif) receptor 1
Click here to display 68 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005103abnormal retinal pigmentation0self