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Details
Link-It Detail - Human Phenotype - Abnormality of the cerebrospinal fluid
Debug Stats
  • ### Total Build Time: 32 ms 30.567 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 403 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=5 ms Completed: 5 ms rowSize= 806 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.354 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.119 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 23.529 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the cerebrospinal fluid HP:0002921
Definition (1)
The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain).
Parents (2)
img Abnormal neurological laboratory findings HP:0003129
img Abnormality of the central nervous system HP:0002011
Children (7)
img Increased CSF lactate HP:0002490
img CSF pleocytosis HP:0012229
img Chronic CSF lymphocytosis HP:0009704
img Increased CSF interferon alpha HP:0009709
img Decreased CSF homovanillic acid (HVA) HP:0003785
img Hypoglycorrhachia HP:0011972
img Increased CSF protein HP:0002922
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal neurological laboratory findings HP:0003129
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the central nervous system HP:0002011
Genes (68)

Species:
human : 68
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanNDUFA11126328NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
img HP RolledUp, OMIM ID: 252010
HumanMTFMT123263mitochondrial methionyl-tRNA formyltransferase
img HP RolledUp, OMIM ID: 614947
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 256000
img HP RolledUp, OMIM ID: 252010
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 613559
HumanGFM185476G elongation factor, mitochondrial 1
img HP RolledUp, OMIM ID: 609060
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
img HP RolledUp, OMIM ID: 220110
HumanNUBPL80224nucleotide binding protein-like
img HP RolledUp, OMIM ID: 252010
HumanRNASEH2B79621ribonuclease H2, subunit B
img HP RolledUp, OMIM ID: 610181
HumanNDUFAF579133NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
img HP RolledUp, OMIM ID: 252010
HumanSLC25A1960386solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
img HP RolledUp, OMIM ID: 613710
HumanPRX57716periaxin
img HP RolledUp, OMIM ID: 145900
HumanRARS257038arginyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 611523
HumanNDUFA1255967NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
img HP RolledUp, OMIM ID: 256000
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
img HP RolledUp, OMIM ID: 252010
img HP RolledUp, OMIM ID: 256000
HumanPNPO55163pyridoxamine 5'-phosphate oxidase
img HP RolledUp, OMIM ID: 610090
HumanRMND155005required for meiotic nuclear division 1 homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 614922
HumanNDUFAF151103NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
img HP RolledUp, OMIM ID: 252010
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img HP RolledUp, OMIM ID: 252010
HumanHPLH127259hemophagocytic lymphohistiocytosis 1
img HP RolledUp, OMIM ID: 267700
HumanNDUFAF325915NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
img HP RolledUp, OMIM ID: 252010
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002921Abnormality of the cerebrospinal fluid0self