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Details
Link-It Detail - Human Phenotype - Abnormality of lipid metabolism
Debug Stats
  • ### Total Build Time: 233 ms 32.233 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 436 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=0 Completed: 0 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 4.358 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=220 ms Completed: 220 ms rowSize= 24.458 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of lipid metabolism HP:0003119
Definition (1)
According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (13)
img Increased circulating very-low-density lipoprotein cholesterol HP:0003362
img Hypertriglyceridemia HP:0002155
img Abnormality of liposaccharide metabolism HP:0010968
img Hypobetalipoproteinemia HP:0003563
img Hyperlipidemia HP:0003077
img Hyperlipoproteinemia II HP:0003611
img Abnormality of fatty-acid metabolism HP:0004359
img Increased serum triglycerides HP:0003082
img Abnormality of glycosphingolipid metabolism HP:0004343
img Abnormality of cholesterol metabolism HP:0003107
img Hyperapobetalipoproteinemia HP:0008158
img Hypotriglyceridemia HP:0012153
img Hyperbetalipoproteinemia HP:0003141
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (144)

Species:
human : 144
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPTLS100038247Potocki-Lupski syndrome
img HP RolledUp, OMIM ID: 610883
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
img HP RolledUp, OMIM ID: 603776
HumanUNC13D201294unc-13 homolog D (C. elegans)
img HP RolledUp, OMIM ID: 608898
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanLIPI149998lipase, member I
img HP RolledUp, OMIM ID: 145750
HumanAPOA5116519apolipoprotein A-V
img HP RolledUp, OMIM ID: 145750
img HP IEA, OMIM ID: 144650
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanLMNB284823lamin B2
img HP IEA, OMIM ID: 608709
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img HP RolledUp, OMIM ID: 252605
HumanLCS184565lymphedema-cholestasis syndrome 1
img HP TAS, OMIM ID: 214900
HumanDCAF1780067DDB1 and CUL4 associated factor 17
img HP RolledUp, OMIM ID: 241080
HumanPANK280025pantothenate kinase 2
img HP RolledUp, OMIM ID: 607236
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252500
img HP RolledUp, OMIM ID: 252600
HumanABCG864241ATP-binding cassette, sub-family G (WHITE), member 8
img HP RolledUp, OMIM ID: 210250
HumanABCG564240ATP-binding cassette, sub-family G (WHITE), member 5
img HP RolledUp, OMIM ID: 210250
HumanMCOLN157192mucolipin 1
img HP RolledUp, OMIM ID: 252650
HumanHTGS56797Hypertriglyceridemia, familial
img HP RolledUp, OMIM ID: 145750
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 214100
img HP RolledUp, OMIM ID: 202370
img HP RolledUp, OMIM ID: 266510
HumanTMEM12755654transmembrane protein 127
img HP RolledUp, OMIM ID: 171300
HumanAPTX54840aprataxin
img HP RolledUp, OMIM ID: 208920
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
img HP RolledUp, OMIM ID: 246700
HumanMLXIPL51085MLX interacting protein-like
img HP TAS, OMIM ID: 194050
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003119Abnormality of lipid metabolism0self