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Details
Link-It Detail - Human Phenotype - Abnormal platelet function
Debug Stats
  • ### Total Build Time: 21 ms 21.549 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 201 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=0 Completed: 0 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= 448 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 781 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.163 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 17.824 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal platelet function HP:0011869
Parents (1)
img Abnormality of thrombocytes HP:0001872
Children (2)
img Impaired platelet aggregation HP:0003540
img Impaired platelet adhesion HP:0008352
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of thrombocytes HP:0001872
Genes (24)

Species:
human : 24
SpeciesGeneGeneIdGene NameEvidence
HumanCISD2493856CDGSH iron sulfur domain 2
img HP RolledUp, OMIM ID: 604928
HumanDTNBP184062dystrobrevin binding protein 1
img HP RolledUp, OMIM ID: 614076
HumanHPS679803Hermansky-Pudlak syndrome 6
img HP RolledUp, OMIM ID: 614075
HumanP2RY1264805purinergic receptor P2Y, G-protein coupled, 12
HumanABCG864241ATP-binding cassette, sub-family G (WHITE), member 8
img HP RolledUp, OMIM ID: 210250
HumanABCG564240ATP-binding cassette, sub-family G (WHITE), member 5
img HP RolledUp, OMIM ID: 210250
HumanNBEAL223218neurobeachin-like 2
HumanSH2B310019SH2B adaptor protein 3
img HP RolledUp, OMIM ID: 187950
HumanVWF7450von Willebrand factor
img HP RolledUp, OMIM ID: 193400
img HP RolledUp, OMIM ID: 277480
HumanTHPO7066thrombopoietin
img HP RolledUp, OMIM ID: 187950
HumanTBXAS16916thromboxane A synthase 1 (platelet)
img HP RolledUp, OMIM ID: 274180
HumanPTGS15742prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
HumanPLAU5328plasminogen activator, urokinase
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
HumanMPL4352myeloproliferative leukemia virus oncogene
img HP RolledUp, OMIM ID: 187950
HumanKCNJ13758potassium inwardly-rectifying channel, subfamily J, member 1
img HP RolledUp, OMIM ID: 241200
HumanJAK23717Janus kinase 2
img HP RolledUp, OMIM ID: 187950
HumanITGB33690integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
img HP RolledUp, OMIM ID: 187800
img HP RolledUp, OMIM ID: 273800
img HP RolledUp, OMIM ID: 173470
HumanITGA2B3674integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
img HP RolledUp, OMIM ID: 187800
img HP RolledUp, OMIM ID: 273800
HumanHABP23026hyaluronan binding protein 2
HumanGATA12623GATA binding protein 1 (globin transcription factor 1)
img HP RolledUp, OMIM ID: 300835
HumanF13A12162coagulation factor XIII, A1 polypeptide
HumanF22147coagulation factor II (thrombin)
HumanRUNX1861runt-related transcription factor 1
img HP RolledUp, OMIM ID: 601399
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011869Abnormal platelet function0self