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Details
Link-It Detail - Human Phenotype - Abnormality of phosphate homeostasis
Debug Stats
  • ### Total Build Time: 97 ms 26.652 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 211 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=73 ms Completed: 73 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= 451 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.066 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.166 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 22.599 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of phosphate homeostasis HP:0100529
Parents (1)
img Abnormality of ion homeostasis HP:0003111
Children (3)
img Hypophosphatemia HP:0002148
img Elevated plasma pyrophosphate HP:0011864
img Hyperphosphatemia HP:0002905
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of ion homeostasis HP:0003111
Genes (42)

Species:
human : 42
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMRT17100689013mental retardation, non-syndromic, autosomal recessive, 17
img HP RolledUp, OMIM ID: 614207
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanHBD100187828hypophosphatemic bone disease
img HP RolledUp, OMIM ID: 146350
HumanGNAS-AS1149775
img HP RolledUp, OMIM ID: 603233
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
HumanFRTS65211Fanconi renotubular syndrome
img HP RolledUp, OMIM ID: 134600
HumanFAM111A63901family with sequence similarity 111, member A
HumanFAM20C56975family with sequence similarity 20, member C
img HP RolledUp, OMIM ID: 259775
HumanPGAP227315post-GPI attachment to proteins 2
img HP RolledUp, OMIM ID: 614207
HumanSLC9A3R19368solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
img HP RolledUp, OMIM ID: 612287
HumanKL9365klotho
img HP RolledUp, OMIM ID: 211900
HumanGCM29247glial cells missing homolog 2 (Drosophila)
img HP RolledUp, OMIM ID: 146200
HumanSUCLG18802succinate-CoA ligase, alpha subunit
img HP RolledUp, OMIM ID: 245400
HumanSTX168675syntaxin 16
img HP RolledUp, OMIM ID: 603233
HumanFGF238074fibroblast growth factor 23
img HP RolledUp, OMIM ID: 193100
img HP RolledUp, OMIM ID: 211900
HumanMHS37977Malignant hyperthermia susceptibility 3
img HP RolledUp, OMIM ID: 154276
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanTBCE6905tubulin folding cofactor E
img HP RolledUp, OMIM ID: 241410
HumanSLC34A16569solute carrier family 34 (type II sodium/phosphate contransporter), member 1
img HP RolledUp, OMIM ID: 613388
img HP RolledUp, OMIM ID: 612286
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
img HP RolledUp, OMIM ID: 227810
HumanRYR16261ryanodine receptor 1 (skeletal)
img HP RolledUp, OMIM ID: 145600
HumanPTH1R5745parathyroid hormone 1 receptor
img HP RolledUp, OMIM ID: 156400
HumanPTH5741parathyroid hormone
img HP RolledUp, OMIM ID: 146200
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img HP RolledUp, OMIM ID: 307800
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100529Abnormality of phosphate homeostasis0self