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Details
Link-It Detail - Jax Mouse Phenotype - abnormal cellular cholesterol metabolism
Debug Stats
  • ### Total Build Time: 153 ms 52.918 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 408 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 204 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=67 ms Completed: 67 ms rowSize= 1.011 KB
  • CONCEPT_CHILDREN gt=23 ms Completed: 23 ms rowSize= 1.025 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.903 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=36 ms Completed: 36 ms rowSize= 46.059 KB
  • CONCEPT_XREFS gt=22 ms Completed: 22 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal cellular cholesterol metabolism MP:0003191
Definition (1)
impaired regulation of cellular cholesterol levels
Parents (2)
img abnormal metabolism MP:0005266
img abnormal cell physiology MP:0005621
Children (2)
img decreased cholesterol efflux MP:0003193
img increased cholesterol efflux MP:0003192
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img homeostasis/metabolism phenotype MP:00053764img abnormal metabolism MP:0005266
img mammalian phenotype MP:0000001img cellular phenotype MP:00053844img abnormal cell physiology MP:0005621
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanNCEH157552neutral cholesterol ester hydrolase 1
INFERRED
HumanP2RY1353829purinergic receptor P2Y, G-protein coupled, 13
img Jax MP, Pubmed Id: 9684752, MOUSE PHENOTYPE ID: MGI:88049
img Jax MP, Pubmed Id: 16603689, MOUSE PHENOTYPE ID: MGI:102709
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 19996385, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 12692847, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 11138930, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352462
img Jax MP, Pubmed Id: 20830789, MOUSE PHENOTYPE ID: MGI:1921441
HumanABCA1226154ATP-binding cassette, sub-family A (ABC1), member 12
INFERRED
HumanNR1H310062nuclear receptor subfamily 1, group H, member 3
img Jax MP, Pubmed Id: 11138930, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 19996385, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 12692847, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 9684752, MOUSE PHENOTYPE ID: MGI:88049
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 20830789, MOUSE PHENOTYPE ID: MGI:1921441
img Jax MP, Pubmed Id: 16603689, MOUSE PHENOTYPE ID: MGI:102709
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352462
HumanABCG19619ATP-binding cassette, sub-family G (WHITE), member 1
INFERRED
HumanSPTLC29517serine palmitoyltransferase, long chain base subunit 2
INFERRED
HumanNR1H27376nuclear receptor subfamily 1, group H, member 2
img Jax MP, Pubmed Id: 20830789, MOUSE PHENOTYPE ID: MGI:1921441
img Jax MP, Pubmed Id: 11138930, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 19996385, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 16603689, MOUSE PHENOTYPE ID: MGI:102709
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352462
img Jax MP, Pubmed Id: 9684752, MOUSE PHENOTYPE ID: MGI:88049
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 12692847, MOUSE PHENOTYPE ID: MGI:1097712
HumanRXRB6257retinoid X receptor, beta
INFERRED
HumanNPC14864Niemann-Pick disease, type C1
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352462
img Jax MP, Pubmed Id: 19996385, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 16603689, MOUSE PHENOTYPE ID: MGI:102709
img Jax MP, Pubmed Id: 12692847, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 9684752, MOUSE PHENOTYPE ID: MGI:88049
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 11138930, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 20830789, MOUSE PHENOTYPE ID: MGI:1921441
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352463
HumanHP3240haptoglobin
INFERRED
HumanCAV1857caveolin 1, caveolae protein, 22kDa
img Jax MP, Pubmed Id: 9684752, MOUSE PHENOTYPE ID: MGI:88049
img Jax MP, Pubmed Id: 16603689, MOUSE PHENOTYPE ID: MGI:102709
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 12692847, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 19996385, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 20830789, MOUSE PHENOTYPE ID: MGI:1921441
img Jax MP, Pubmed Id: 11138930, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352462
HumanAPOA1335apolipoprotein A-I
img Jax MP, Pubmed Id: 9684752, MOUSE PHENOTYPE ID: MGI:88049
img Jax MP, Pubmed Id: 11138930, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 16603689, MOUSE PHENOTYPE ID: MGI:102709
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 19996385, MOUSE PHENOTYPE ID: MGI:1352463
img Jax MP, Pubmed Id: 20830789, MOUSE PHENOTYPE ID: MGI:1921441
img Jax MP, Pubmed Id: 11238557, MOUSE PHENOTYPE ID: MGI:1352462
img Jax MP, Pubmed Id: 12692847, MOUSE PHENOTYPE ID: MGI:1097712
HumanAPOF319apolipoprotein F
INFERRED
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0003191abnormal cellular cholesterol metabolism0self