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Details
Link-It Detail - Human Phenotype - Abnormality of the aortic valve
Debug Stats
  • ### Total Build Time: 28 ms 28.644 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=7 ms Completed: 7 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 452 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.355 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.167 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 23.309 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the aortic valve HP:0001646
Parents (1)
img Abnormality of the heart valves HP:0001654
Children (7)
img Aortic valve calcification HP:0004380
img Aortic valve stenosis HP:0001650
img Nodular calcific aortic valve disease HP:0004759
img Aortic valve atresia HP:0010883
img Aortic regurgitation HP:0001659
img Bicuspid aortic valve HP:0001647
img Dysplastic aortic valve HP:0005176
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the heart valves HP:0001654
Genes (93)

Species:
human : 93
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDER22T11-22100529146
img HP RolledUp, OMIM ID: 609029
HumanAMMEC100499260Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
img HP TAS, OMIM ID: 300194
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanDEL2P16.1-P15100240740
img HP TAS, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP RolledUp, OMIM ID: 612474
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP TAS, OMIM ID: 611867
HumanAUTS14100187724autism, susceptibility to, 14
img HP TAS, OMIM ID: 611913
HumanDEL17Q21.31791085
img HP TAS, OMIM ID: 610443
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img HP RolledUp, OMIM ID: 600721
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP TAS, OMIM ID: 610443
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 269000
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanC12orf57113246chromosome 12 open reading frame 57
img HP RolledUp, OMIM ID: 218340
HumanFAM58A92002family with sequence similarity 58, member A
img HP TAS, OMIM ID: 300707
HumanATPAF291647ATP synthase mitochondrial F1 complex assembly factor 2
img HP TAS, OMIM ID: 604273
HumanMYLK285366myosin light chain kinase 2
img HP RolledUp, OMIM ID: 192600
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img HP RolledUp, OMIM ID: 252605
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanSLC2A1081031solute carrier family 2 (facilitated glucose transporter), member 10
img HP RolledUp, OMIM ID: 208050
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img HP TAS, OMIM ID: 610253
HumanSNIP179753Smad nuclear interacting protein 1
img HP RolledUp, OMIM ID: 614501
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252600
img HP RolledUp, OMIM ID: 252500
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001646Abnormality of the aortic valve0self