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Details
Link-It Detail - Jax Mouse Phenotype - perimembraneous ventricular septal defect
Debug Stats
  • ### Total Build Time: 115 ms 23.690 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 410 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 588 bytes
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  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=107 ms Completed: 107 ms rowSize= 17.186 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.179 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
perimembraneous ventricular septal defect MP:0010418
Definition (1)
abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect
Synonyms (1)
"paramembranous ventricular septal defect" EXACT
Parents (2)
img ventricular septal defect MP:0010402
img abnormal interventricular septum membranous part morphology MP:0008823
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053858img ventricular septal defect MP:0010402
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053858img abnormal interventricular septum membranous part morphology MP:0008823
Genes (37)

Species:
human : 37
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SpeciesGeneGeneIdGene NameEvidence
HumanMKL257496MKL/myocardin-like 2
Click here to display 81 evidence detail records.
HumanACKR357007atypical chemokine receptor 3
Click here to display 81 evidence detail records.
HumanFGFRL153834fibroblast growth factor receptor-like 1
Click here to display 81 evidence detail records.
HumanHEY223493hairy/enhancer-of-split related with YRPW motif 2
Click here to display 81 evidence detail records.
HumanHEY123462hairy/enhancer-of-split related with YRPW motif 1
Click here to display 81 evidence detail records.
HumanPDS5A23244PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)
Click here to display 81 evidence detail records.
HumanPDS5B23047PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)
Click here to display 81 evidence detail records.
HumanSEMA3C10512sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
Click here to display 81 evidence detail records.
HumanFGF199965fibroblast growth factor 19
Click here to display 81 evidence detail records.
HumanECE29718endothelin converting enzyme 2
Click here to display 81 evidence detail records.
HumanHAND29464heart and neural crest derivatives expressed 2
Click here to display 81 evidence detail records.
HumanHAND19421heart and neural crest derivatives expressed 1
Click here to display 81 evidence detail records.
HumanADAM198728ADAM metallopeptidase domain 19
Click here to display 81 evidence detail records.
HumanCXCR47852chemokine (C-X-C motif) receptor 4
Click here to display 81 evidence detail records.
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
Click here to display 81 evidence detail records.
HumanTGFB27042transforming growth factor, beta 2
Click here to display 81 evidence detail records.
HumanTBX56910T-box 5
Click here to display 81 evidence detail records.
HumanTBX16899T-box 1
Click here to display 81 evidence detail records.
HumanSOX46659SRY (sex determining region Y)-box 4
Click here to display 81 evidence detail records.
HumanRARA5914retinoic acid receptor, alpha
Click here to display 81 evidence detail records.
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
Click here to display 81 evidence detail records.
HumanNTF34908neurotrophin 3
Click here to display 81 evidence detail records.
HumanMYH104628myosin, heavy chain 10, non-muscle
Click here to display 81 evidence detail records.
HumanLTBP14052latent transforming growth factor beta binding protein 1
Click here to display 81 evidence detail records.
HumanGPC32719glypican 3
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XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0010418perimembraneous ventricular septal defect0self