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Details
Link-It Detail - Human Phenotype - Abnormality of iron homeostasis
Debug Stats
  • ### Total Build Time: 34 ms 23.211 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 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=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=3 ms Completed: 3 ms rowSize= 473 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.072 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 1.188 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 19.118 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 iron homeostasis HP:0011031
Parents (1)
img Abnormality of transition element cation homeostasis HP:0011030
Children (3)
img Decreased serum ferritin HP:0012343
img Increased serum iron HP:0003452
img Increased serum ferritin HP:0003281
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of transition element cation homeostasis HP:0011030
Genes (23)

Species:
human : 23
SpeciesGeneGeneIdGene NameEvidence
HumanLCRB387281locus control region, beta
img HP TAS, OMIM ID: 613985
HumanHFE2148738hemochromatosis type 2 (juvenile)
img HP RolledUp, OMIM ID: 602390
HumanPUS180324pseudouridylate synthase 1
img HP RolledUp, OMIM ID: 600462
HumanHAMP57817hepcidin antimicrobial peptide
img HP RolledUp, OMIM ID: 602390
img HP IEA, OMIM ID: 613313
HumanSLC25A3854977solute carrier family 25, member 38
img HP RolledUp, OMIM ID: 205950
HumanGLRX551218glutaredoxin 5
img HP RolledUp, OMIM ID: 205950
HumanSLC40A130061solute carrier family 40 (iron-regulated transporter), member 1
img HP TAS, OMIM ID: 606069
HumanHPLH127259hemophagocytic lymphohistiocytosis 1
img HP RolledUp, OMIM ID: 267700
HumanDHS10774dehydrated hereditary stomatocytosis
img HP RolledUp, OMIM ID: 194380
HumanPIEZO19780piezo-type mechanosensitive ion channel component 1
img HP RolledUp, OMIM ID: 194380
HumanTTC379652tetratricopeptide repeat domain 37
img HP IEA, OMIM ID: 222470
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img HP RolledUp, OMIM ID: 222700
HumanSTX118676syntaxin 11
img HP RolledUp, OMIM ID: 603552
HumanTFR27036transferrin receptor 2
img HP RolledUp, OMIM ID: 604250
HumanSTXBP26813syntaxin binding protein 2
img HP RolledUp, OMIM ID: 613101
HumanPRF15551perforin 1 (pore forming protein)
img HP RolledUp, OMIM ID: 603553
HumanHFE3077hemochromatosis
img HP RolledUp, OMIM ID: 235200
HumanHBB3043hemoglobin, beta
img HP TAS, OMIM ID: 613985
HumanFTL2512ferritin, light polypeptide
img HP RolledUp, OMIM ID: 606159
img HP RolledUp, OMIM ID: 600886
HumanCP1356ceruloplasmin (ferroxidase)
img HP TAS, OMIM ID: 604290
HumanBMP2650bone morphogenetic protein 2
img HP RolledUp, OMIM ID: 235200
HumanBCS1L617BC1 (ubiquinol-cytochrome c reductase) synthesis-like
img HP TAS, OMIM ID: 603358
HumanXIAP331X-linked inhibitor of apoptosis
img HP RolledUp, OMIM ID: 300635
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011031Abnormality of iron homeostasis0self