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Details
Link-It Detail - Jax Mouse Phenotype - atrioventricular septal defect
Debug Stats
  • ### Total Build Time: 139 ms 22.273 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 654 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 161 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=0 Completed: 0 ms rowSize= 598 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 1.516 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.596 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=117 ms Completed: 117 ms rowSize= 16.091 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
atrioventricular septal defect MP:0010412
Definition (1)
defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)
Synonyms (1)
"AVC" EXACT
Parents (1)
img abnormal atrioventricular septum morphology MP:0010592
Children (3)
img intermediate atrioventricular septal defect MP:0010415
img complete atrioventricular septal defect MP:0010413
img partial atrioventricular septal defect MP:0010414
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053857img abnormal atrioventricular septum morphology MP:0010592
Genes (32)

Species:
human : 32
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNEK8284086NIMA-related kinase 8
Click here to display 65 evidence detail records.
HumanZFPM1161882zinc finger protein, FOG family member 1
Click here to display 65 evidence detail records.
HumanGATA5140628GATA binding protein 5
INFERRED
HumanIRX379191iroquois homeobox 3
Click here to display 65 evidence detail records.
HumanNXN64359nucleoredoxin
Click here to display 65 evidence detail records.
HumanMESP155897mesoderm posterior 1 homolog (mouse)
Click here to display 65 evidence detail records.
HumanHSPB1151668heat shock protein family B (small), member 11
Click here to display 65 evidence detail records.
HumanIFT17226160intraflagellar transport 172 homolog (Chlamydomonas)
Click here to display 65 evidence detail records.
HumanZFPM223414zinc finger protein, FOG family member 2
INFERRED
HumanPDS5A23244PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)
Click here to display 65 evidence detail records.
HumanPDS5B23047PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)
INFERRED
HumanSRSF1010772serine/arginine-rich splicing factor 10
INFERRED
HumanLEFTY110637left-right determination factor 1
INFERRED
HumanFGF199965fibroblast growth factor 19
Click here to display 65 evidence detail records.
HumanCCNE29134cyclin E2
Click here to display 65 evidence detail records.
HumanFOXH18928forkhead box H1
INFERRED
HumanKAT6A7994K(lysine) acetyltransferase 6A
Click here to display 65 evidence detail records.
HumanTLL17092tolloid-like 1
Click here to display 65 evidence detail records.
HumanLEFTY27044left-right determination factor 2
INFERRED
HumanTGFB27042transforming growth factor, beta 2
Click here to display 65 evidence detail records.
HumanRXRA6256retinoid X receptor, alpha
INFERRED
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
Click here to display 65 evidence detail records.
HumanPKD25311polycystic kidney disease 2 (autosomal dominant)
Click here to display 65 evidence detail records.
HumanPITX25308paired-like homeodomain 2
Click here to display 65 evidence detail records.
HumanISL13670ISL LIM homeobox 1
Click here to display 65 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0010412atrioventricular septal defect0self