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Details
Link-It Detail - Human Phenotype - Abnormality of alkaline phosphatase activity
Debug Stats
  • ### Total Build Time: 25 ms 27.199 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 219 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 410 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=3 ms Completed: 3 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 779 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 23.021 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.038 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of alkaline phosphatase activity HP:0004379
Definition (1)
Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (2)
img Elevated alkaline phosphatase HP:0003155
img Low alkaline phosphatase HP:0003282
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (40)

Species:
human : 40
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMRT17100689013mental retardation, non-syndromic, autosomal recessive, 17
img HP RolledUp, OMIM ID: 614207
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
HumanPDB494003Paget disease of bone 4
img HP RolledUp, OMIM ID: 602080
HumanPIGO84720phosphatidylinositol glycan anchor biosynthesis, class O
img HP RolledUp, OMIM ID: 614749
HumanLCS184565lymphedema-cholestasis syndrome 1
img HP RolledUp, OMIM ID: 214900
HumanFKBP1060681FK506 binding protein 10, 65 kDa
img HP RolledUp, OMIM ID: 610968
HumanFAM20C56975family with sequence similarity 20, member C
img HP RolledUp, OMIM ID: 259775
HumanPIGV55650phosphatidylinositol glycan anchor biosynthesis, class V
img HP RolledUp, OMIM ID: 239300
HumanSLC39A455630solute carrier family 39 (zinc transporter), member 4
img HP RolledUp, OMIM ID: 201100
HumanSOST50964sclerostin
img HP RolledUp, OMIM ID: 122860
img HP RolledUp, OMIM ID: 239100
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img HP RolledUp, OMIM ID: 259700
HumanPGAP227315post-GPI attachment to proteins 2
img HP RolledUp, OMIM ID: 614207
HumanCOG425839component of oligomeric golgi complex 4
img HP RolledUp, OMIM ID: 613489
HumanSEC6311231SEC63 homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 174050
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img HP RolledUp, OMIM ID: 259700
HumanCYP7B19420cytochrome P450, family 7, subfamily B, polypeptide 1
img HP RolledUp, OMIM ID: 613812
HumanSQSTM18878sequestosome 1
img HP RolledUp, OMIM ID: 602080
HumanTNFRSF11A8792tumor necrosis factor receptor superfamily, member 11a, NFKB activator
img HP RolledUp, OMIM ID: 602080
HumanABCB118647ATP-binding cassette, sub-family B (MDR/TAP), member 11
img HP RolledUp, OMIM ID: 605479
img HP RolledUp, OMIM ID: 601847
HumanFGF238074fibroblast growth factor 23
img HP RolledUp, OMIM ID: 193100
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanVCP7415valosin containing protein
img HP RolledUp, OMIM ID: 167320
HumanHNF1B6928HNF1 homeobox B
img HP PCS, OMIM ID: 137920
HumanAKR1D16718aldo-keto reductase family 1, member D1
img HP RolledUp, OMIM ID: 235555
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004379Abnormality of alkaline phosphatase activity0self