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Details
Link-It Detail - Human Phenotype - Abnormality of the mitral valve
Debug Stats
  • ### Total Build Time: 29 ms 30.526 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 202 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=0 Completed: 0 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= 463 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 3 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.121 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 23.385 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the mitral valve HP:0001633
Definition (1)
An abnormality of the `mitral valve` (FMA:7235).
Parents (1)
img Abnormality of the atrioventricular valves HP:0006705
Children (9)
img Mitral valve prolapse HP:0001634
img Mitral valve arcade HP:0011564
img Double orifice mitral valve HP:0011568
img Mitral valve calcification HP:0004382
img Myxomatous mitral valve degeneration HP:0004764
img Mitral stenosis HP:0001718
img Mitral regurgitation HP:0001653
img Mitral atresia HP:0011560
img Short chordae tendineae of the mitral valve HP:0011580
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the atrioventricular valves HP:0006705
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the atrioventricular valves HP:0006705
Genes (68)

Species:
human : 68
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P16.1-P15100240740
img HP TAS, OMIM ID: 612513
HumanMMVP3100034705Mitral valve prolapse, myxomatous 3
img HP RolledUp, OMIM ID: 610840
HumanMMVP2352956myxomatous mitral valve prolapse 2
img HP RolledUp, OMIM ID: 607829
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP TAS, OMIM ID: 216550
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
HumanG6PC392579glucose 6 phosphatase, catalytic, 3
img HP RolledUp, OMIM ID: 612541
HumanFAM58A92002family with sequence similarity 58, member A
img HP RolledUp, OMIM ID: 300707
HumanZNF46984627zinc finger protein 469
img HP RolledUp, OMIM ID: 229200
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanXYLT264132xylosyltransferase II
img HP RolledUp, OMIM ID: 264800
HumanXYLT164131xylosyltransferase I
img HP RolledUp, OMIM ID: 264800
HumanSLC29A355315solute carrier family 29 (equilibrative nucleoside transporter), member 3
img HP RolledUp, OMIM ID: 602782
img HP RolledUp, OMIM ID: 612391
HumanBCOR54880BCL6 corepressor
img HP TAS, OMIM ID: 300166
HumanMLXIPL51085MLX interacting protein-like
img HP TAS, OMIM ID: 194050
HumanMMVP150951myxomatous mitral valve prolapse 1
img HP TAS, OMIM ID: 157700
HumanB3GAT326229beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
img HP RolledUp, OMIM ID: 245600
HumanPDSS123590prenyl (decaprenyl) diphosphate synthase, subunit 1
img HP RolledUp, OMIM ID: 614651
HumanDHS10774dehydrated hereditary stomatocytosis
img HP RolledUp, OMIM ID: 177720
HumanFBLN510516fibulin 5
img HP RolledUp, OMIM ID: 123700
img HP RolledUp, OMIM ID: 614434
HumanIRX510265iroquois homeobox 5
img HP RolledUp, OMIM ID: 611174
HumanAKT310000v-akt murine thymoma viral oncogene homolog 3
img HP TAS, OMIM ID: 603387
HumanADAMTSL29719ADAMTS-like 2
img HP RolledUp, OMIM ID: 231050
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP TAS, OMIM ID: 194050
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img HP RolledUp, OMIM ID: 245600
img HP RolledUp, OMIM ID: 143095
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001633Abnormality of the mitral valve0self