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Details
Link-It Detail - Human Phenotype - Abnormality of nucleobase metabolism
Debug Stats
  • ### Total Build Time: 21 ms 22.589 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 422 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=0 Completed: 0 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.126 KB
  • 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=15 ms Completed: 15 ms rowSize= 18.050 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of nucleobase metabolism HP:0010932
Definition (1)
This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (3)
img Increased phosphoribosylpyrophosphate (PRPP) synthetase HP:0003240
img Abnormality of pyrimidine metabolism HP:0004353
img Abnormality of purine metabolism HP:0004352
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (48)

Species:
human : 48
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUAQTL4100272225Uric acid concentration, serum, QTL4
img HP RolledUp, OMIM ID: 612671
HumanUOX391051urate oxidase, pseudogene
HumanSLC22A12116085solute carrier family 22 (organic anion/urate transporter), member 12
HumanSLC2A956606solute carrier family 2 (facilitated glucose transporter), member 9
img HP RolledUp, OMIM ID: 612076
HumanSARS254938seryl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 613845
HumanSLC7A911136solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
img HP RolledUp, OMIM ID: 220100
HumanSLC17A310786solute carrier family 17 (organic anion transporter), member 3
img HP RolledUp, OMIM ID: 612671
HumanCLDN1610686claudin 16
HumanGPHN10243gephyrin
HumanABCG29429ATP-binding cassette, sub-family G (WHITE), member 2
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img HP RolledUp, OMIM ID: 222700
HumanALMS17840Alstrom syndrome 1
HumanXDH7498xanthine dehydrogenase
img HP RolledUp, OMIM ID: 278300
HumanUMPS7372uridine monophosphate synthetase
img HP RolledUp, OMIM ID: 258900
HumanUMOD7369uromodulin
img HP RolledUp, OMIM ID: 609886
HumanHNF1B6928HNF1 homeobox B
HumanSUOX6821sulfite oxidase
img HP RolledUp, OMIM ID: 272300
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img HP RolledUp, OMIM ID: 220100
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
HumanREN5972renin
img HP RolledUp, OMIM ID: 613092
HumanPYGL5836phosphorylase, glycogen, liver
HumanPRPS25634phosphoribosyl pyrophosphate synthetase 2
img HP RolledUp, OMIM ID: 311860
HumanPRPS15631phosphoribosyl pyrophosphate synthetase 1
img HP RolledUp, OMIM ID: 311850
HumanPPP1R3A5506protein phosphatase 1, regulatory subunit 3A
HumanPPARG5468peroxisome proliferator-activated receptor gamma
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010932Abnormality of nucleobase metabolism0self