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Details
Link-It Detail - Jax Mouse Phenotype - abnormal aortic valve cusp morphology
Debug Stats
  • ### Total Build Time: 56 ms 45.038 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 402 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 259 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 198 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=3 ms Completed: 3 ms rowSize= 587 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.915 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=14 ms Completed: 14 ms rowSize= 2.936 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 37.456 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.175 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal aortic valve cusp morphology MP:0010595
Definition (1)
any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve
Synonyms (1)
"abnormal aortic valve leaflet morphology" EXACT
Parents (1)
img abnormal aortic valve morphology MP:0002747
Children (4)
img absent aortic valve cusps MP:0010597
img thick aortic valve cusps MP:0010593
img bicuspid aortic valve MP:0010484
img unicuspid aortic valve MP:0010596
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053859img abnormal aortic valve morphology MP:0002747
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053858img abnormal aortic valve morphology MP:0002747
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanGATA5140628GATA binding protein 5
img Jax MP, Pubmed Id: 7607068, MOUSE PHENOTYPE ID: MGI:97856
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 15297376, MOUSE PHENOTYPE ID: MGI:1341884
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437765
img Jax MP, Pubmed Id: 23354118, MOUSE PHENOTYPE ID: MGI:1096335
img Jax MP, Pubmed Id: 10479458, MOUSE PHENOTYPE ID: MGI:1347466
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437764
HumanMESP155897mesoderm posterior 1 homolog (mouse)
INFERRED
HumanPLCE151196phospholipase C, epsilon 1
INFERRED
HumanHEY223493hairy/enhancer-of-split related with YRPW motif 2
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437764
img Jax MP, Pubmed Id: 10479458, MOUSE PHENOTYPE ID: MGI:1347466
img Jax MP, Pubmed Id: 15297376, MOUSE PHENOTYPE ID: MGI:1341884
img Jax MP, Pubmed Id: 23354118, MOUSE PHENOTYPE ID: MGI:1096335
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 7607068, MOUSE PHENOTYPE ID: MGI:97856
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437765
HumanADAM198728ADAM metallopeptidase domain 19
INFERRED
HumanTGFB27042transforming growth factor, beta 2
INFERRED
HumanADAM176868ADAM metallopeptidase domain 17
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 7607068, MOUSE PHENOTYPE ID: MGI:97856
img Jax MP, Pubmed Id: 10479458, MOUSE PHENOTYPE ID: MGI:1347466
img Jax MP, Pubmed Id: 23354118, MOUSE PHENOTYPE ID: MGI:1096335
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437764
img Jax MP, Pubmed Id: 15297376, MOUSE PHENOTYPE ID: MGI:1341884
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437765
HumanSOS16654son of sevenless homolog 1 (Drosophila)
INFERRED
HumanRARA5914retinoic acid receptor, alpha
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 15297376, MOUSE PHENOTYPE ID: MGI:1341884
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437764
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437765
img Jax MP, Pubmed Id: 10479458, MOUSE PHENOTYPE ID: MGI:1347466
img Jax MP, Pubmed Id: 23354118, MOUSE PHENOTYPE ID: MGI:1096335
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 7607068, MOUSE PHENOTYPE ID: MGI:97856
HumanNTF34908neurotrophin 3
INFERRED
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
INFERRED
HumanNFATC14772nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
INFERRED
HumanHOXA33200homeobox A3
INFERRED
HumanHOXA13198homeobox A1
INFERRED
HumanFOXC12296forkhead box C1
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437765
img Jax MP, Pubmed Id: 15297376, MOUSE PHENOTYPE ID: MGI:1341884
img Jax MP, Pubmed Id: 23354118, MOUSE PHENOTYPE ID: MGI:1096335
img Jax MP, Pubmed Id: 10479458, MOUSE PHENOTYPE ID: MGI:1347466
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 21633169, MOUSE PHENOTYPE ID: MGI:109497
img Jax MP, Pubmed Id: 20053665, MOUSE PHENOTYPE ID: MGI:4437764
img Jax MP, Pubmed Id: 7607068, MOUSE PHENOTYPE ID: MGI:97856
HumanEFNA11942ephrin-A1
INFERRED
HumanNKX2-51482
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0010595abnormal aortic valve cusp morphology0self