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Details
Link-It Detail - Human Phenotype - Abnormality of the level of lipoprotein cholesterol
Debug Stats
  • ### Total Build Time: 34 ms 25.034 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 226 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 269 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=4 ms Completed: 4 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 765 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 20.994 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.045 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the level of lipoprotein cholesterol HP:0010979
Definition (1)
An abnormal increase or decrease in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670).
Parents (1)
img Abnormality of cholesterol metabolism HP:0003107
Children (2)
img Hyperlipoproteinemia HP:0010980
img Hypolipoproteinemia HP:0010981
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of cholesterol metabolism HP:0003107
Genes (27)

Species:
human : 27
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanLIPI149998lipase, member I
img HP RolledUp, OMIM ID: 145750
HumanAPOA5116519apolipoprotein A-V
img HP RolledUp, OMIM ID: 145750
img HP RolledUp, OMIM ID: 144650
HumanPANK280025pantothenate kinase 2
img HP RolledUp, OMIM ID: 607236
HumanABCG864241ATP-binding cassette, sub-family G (WHITE), member 8
HumanABCG564240ATP-binding cassette, sub-family G (WHITE), member 5
HumanHTGS56797Hypertriglyceridemia, familial
img HP RolledUp, OMIM ID: 145750
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
img HP RolledUp, OMIM ID: 246700
HumanANGPTL327329angiopoietin-like 3
img HP RolledUp, OMIM ID: 605019
HumanHPLH127259hemophagocytic lymphohistiocytosis 1
img HP RolledUp, OMIM ID: 267700
HumanLDLRAP126119low density lipoprotein receptor adaptor protein 1
img HP RolledUp, OMIM ID: 603813
HumanCCT522948chaperonin containing TCP1, subunit 5 (epsilon)
img HP RolledUp, OMIM ID: 256840
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
img HP RolledUp, OMIM ID: 605814
HumanALMS17840Alstrom syndrome 1
img HP RolledUp, OMIM ID: 203800
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img HP RolledUp, OMIM ID: 607616
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
HumanRP16101retinitis pigmentosa 1 (autosomal dominant)
img HP RolledUp, OMIM ID: 145750
HumanPPP1R3A5506protein phosphatase 1, regulatory subunit 3A
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img HP RolledUp, OMIM ID: 151660
HumanMTTP4547microsomal triglyceride transfer protein
HumanLPL4023lipoprotein lipase
img HP RolledUp, OMIM ID: 238600
HumanLMNA4000lamin A/C
img HP RolledUp, OMIM ID: 151660
HumanLCAT3931lecithin-cholesterol acyltransferase
img HP RolledUp, OMIM ID: 245900
img HP RolledUp, OMIM ID: 136120
HumanATHS470atherosclerosis susceptibility (lipoprotein associated)
img HP RolledUp, OMIM ID: 108725
HumanAPOC3345apolipoprotein C-III
img HP RolledUp, OMIM ID: 614028
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010979Abnormality of the level of lipoprotein cholesterol0self