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Details
Link-It Detail - Human Phenotype - Abnormality of the endocardium
Debug Stats
  • ### Total Build Time: 18 ms 18.234 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 205 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 201 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=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= 445 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.380 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.160 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 13.694 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.024 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the endocardium HP:0004306
Definition (1)
An abnormality of the `endocardium` (FMA:7280).
Parents (1)
img Abnormality of the heart HP:0001627
Children (4)
img Bacterial endocarditis HP:0006689
img Endocardial fibroelastosis HP:0001706
img Endocardial fibrosis HP:0006685
img Endocarditis HP:0100584
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the heart HP:0001627
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanMLXIPL51085MLX interacting protein-like
img HP TAS, OMIM ID: 194050
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP TAS, OMIM ID: 194050
HumanCSRP38048cysteine and glycine-rich protein 3 (cardiac LIM protein)
img HP RolledUp, OMIM ID: 607482
HumanTGFB37043transforming growth factor, beta 3
img HP TAS, OMIM ID: 107970
HumanTAZ6901tafazzin
img HP TAS, OMIM ID: 302060
HumanSLC22A56584solute carrier family 22 (organic cation/carnitine transporter), member 5
img HP RolledUp, OMIM ID: 212140
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img HP RolledUp, OMIM ID: 255960
HumanPDGFRA5156platelet-derived growth factor receptor, alpha polypeptide
img HP RolledUp, OMIM ID: 607685
HumanMYL34634myosin, light chain 3, alkali; ventricular, skeletal, slow
img HP RolledUp, OMIM ID: 608751
HumanSP1103431SP110 nuclear body protein
img HP RolledUp, OMIM ID: 235550
HumanIDUA3425iduronidase, alpha-L-
img HP RolledUp, OMIM ID: 607014
HumanGTF2I2969general transcription factor IIi
img HP TAS, OMIM ID: 194050
HumanGLA2717galactosidase, alpha
img HP TAS, OMIM ID: 301500
HumanGJA52702gap junction protein, alpha 5, 40kDa
img HP RolledUp, OMIM ID: 108770
HumanELN2006elastin
img HP TAS, OMIM ID: 194050
HumanACTN288actinin, alpha 2
img HP RolledUp, OMIM ID: 612158
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004306Abnormality of the endocardium0self