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Details
Link-It Detail - Jax Mouse Phenotype - abnormal eye pigmentation
Debug Stats
  • ### Total Build Time: 98 ms 24.475 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 378 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 233 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 186 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=2 ms Completed: 2 ms rowSize= 1.026 KB
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.856 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.911 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=72 ms Completed: 72 ms rowSize= 15.595 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal eye pigmentation MP:0001324
Definition (1)
change in the normal pigmentation of the eye to another color, or lack of color
Synonyms (1)
"abnormal ocular pigmentation" EXACT
Parents (2)
img abnormal eye morphology MP:0002092
img abnormal extracutaneous pigmentation MP:0009389
Children (6)
img decreased eye pigmentation MP:0005172
img abnormal eye pigment epithelium morphology MP:0005200
img abnormal choroid pigmentation MP:0005100
img absent eye pigmentation MP:0008480
img abnormal iris pigmentation MP:0005102
img variegated eye pigmentation pattern MP:0011551
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053914img abnormal eye morphology MP:0002092
img mammalian phenotype MP:0000001img pigmentation phenotype MP:00011864img abnormal extracutaneous pigmentation MP:0009389
Genes (120)

Species:
human : 120
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
Click here to display 77 evidence detail records.
HumanVSX2338917visual system homeobox 2
Click here to display 77 evidence detail records.
HumanCRB2286204crumbs homolog 2 (Drosophila)
INFERRED
HumanSLC24A5283652solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
INFERRED
HumanNPHP4261734nephronophthisis 4
INFERRED
HumanTBC1D32221322TBC1 domain family, member 32
INFERRED
HumanLCA5167691Leber congenital amaurosis 5
INFERRED
HumanSPNS2124976spinster homolog 2 (Drosophila)
Click here to display 77 evidence detail records.
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
INFERRED
HumanHPS489781Hermansky-Pudlak syndrome 4
Click here to display 77 evidence detail records.
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED
HumanDTNBP184062dystrobrevin binding protein 1
Click here to display 77 evidence detail records.
HumanMFRP83552membrane frizzled-related protein
INFERRED
HumanNUAK281788NUAK family, SNF1-like kinase, 2
INFERRED
HumanFUZ80199fuzzy planar cell polarity protein
INFERRED
HumanCEP29080184centrosomal protein 290kDa
INFERRED
HumanHPS679803Hermansky-Pudlak syndrome 6
Click here to display 77 evidence detail records.
HumanTRAPPC6A79090trafficking protein particle complex 6A
INFERRED
HumanMLPH79083melanophilin
INFERRED
HumanKXD179036KxDL motif containing 1
INFERRED
HumanPHACTR465979phosphatase and actin regulator 4
INFERRED
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
Click here to display 77 evidence detail records.
HumanSEMA4A64218sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
INFERRED
HumanSMOC164093SPARC related modular calcium binding 1
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0001324abnormal eye pigmentation0self