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Details
Link-It Detail - Jax Mouse Phenotype - coloboma
Debug Stats
  • ### Total Build Time: 134 ms 19.903 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 290 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=12 ms Completed: 12 ms rowSize= 579 bytes
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 2.781 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.566 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=85 ms Completed: 85 ms rowSize= 13.080 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
coloboma MP:0005262
Definition (1)
anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation
Parents (1)
img abnormal eye development MP:0001286
Children (6)
img choroid coloboma MP:0010718
img optic nerve coloboma MP:0010717
img ciliary body coloboma MP:0010719
img optic disc coloboma MP:0010716
img retina coloboma MP:0010715
img iris coloboma MP:0010714
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053915img abnormal eye development MP:0001286
Genes (24)

Species:
human : 24
SpeciesGeneGeneIdGene NameEvidence
HumanKDM2B84678lysine (K)-specific demethylase 2B
INFERRED
HumanGRHL279977grainyhead-like 2 (Drosophila)
Click here to display 43 evidence detail records.
HumanPHACTR465979phosphatase and actin regulator 4
Click here to display 43 evidence detail records.
HumanSMOC164093SPARC related modular calcium binding 1
INFERRED
HumanGLCE26035glucuronic acid epimerase
INFERRED
HumanVAX225806ventral anterior homeobox 2
Click here to display 43 evidence detail records.
HumanRYBP23429RING1 and YY1 binding protein
Click here to display 43 evidence detail records.
HumanVAX111023ventral anterior homeobox 1
Click here to display 43 evidence detail records.
HumanCITED210370Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
INFERRED
HumanHS2ST19653heparan sulfate 2-O-sulfotransferase 1
INFERRED
HumanIFT888100intraflagellar transport 88 homolog (Chlamydomonas)
Click here to display 43 evidence detail records.
HumanNR2F17025nuclear receptor subfamily 2, group F, member 1
Click here to display 43 evidence detail records.
HumanRXRA6256retinoid X receptor, alpha
INFERRED
HumanRPS76201ribosomal protein S7
Click here to display 43 evidence detail records.
HumanRARB5915retinoic acid receptor, beta
INFERRED
HumanMAPK85599mitogen-activated protein kinase 8
INFERRED
HumanPAX65080paired box 6
Click here to display 43 evidence detail records.
HumanPAX25076paired box 2
Click here to display 43 evidence detail records.
HumanMITF4286microphthalmia-associated transcription factor
Click here to display 43 evidence detail records.
HumanLRP64040low density lipoprotein receptor-related protein 6
INFERRED
HumanNDST13340N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
INFERRED
HumanARHGAP352909Rho GTPase activating protein 35
Click here to display 43 evidence detail records.
HumanGAS12619growth arrest-specific 1
Click here to display 43 evidence detail records.
HumanJAG1182jagged 1
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005262coloboma0self