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Details
Link-It Detail - Jax Mouse Phenotype - abnormal lysosome physiology
Debug Stats
  • ### Total Build Time: 48 ms 21.159 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 251 bytes
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  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 1.498 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.564 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=40 ms Completed: 40 ms rowSize= 15.601 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal lysosome physiology MP:0003172
Definition (1)
ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired
Parents (1)
img abnormal cell physiology MP:0005621
Children (3)
img decreased lysosomal enzyme secretion MP:0003173
img lysosomal protein accumulation MP:0005059
img increased lysosomal enzyme secretion MP:0003174
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img cellular phenotype MP:00053844img abnormal cell physiology MP:0005621
Genes (26)

Species:
human : 26
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNEU4129807sialidase 4
Click here to display 27 evidence detail records.
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED
HumanBLOC1S563915biogenesis of lysosomal organelles complex-1, subunit 5, muted
INFERRED
HumanBLOC1S455330biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
INFERRED
HumanSLC29A355315solute carrier family 29 (equilibrative nucleoside transporter), member 3
Click here to display 27 evidence detail records.
HumanNAGPA51172N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
INFERRED
HumanDYNC1LI151143dynein, cytoplasmic 1, light intermediate chain 1
Click here to display 27 evidence detail records.
HumanBLOC1S626258biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Click here to display 27 evidence detail records.
HumanARSG22901arylsulfatase G
INFERRED
HumanVTI1B10490vesicle transport through interaction with t-SNAREs 1B
Click here to display 27 evidence detail records.
HumanAP3D18943adaptor-related protein complex 3, delta 1 subunit
INFERRED
HumanCADPS8618Ca++-dependent secretion activator
Click here to display 27 evidence detail records.
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
INFERRED
HumanSC5D6309sterol-C5-desaturase
INFERRED
HumanLGMN5641legumain
INFERRED
HumanMANBA4126mannosidase, beta A, lysosomal
Click here to display 27 evidence detail records.
HumanM6PR4074mannose-6-phosphate receptor (cation dependent)
INFERRED
HumanIGF2R3482insulin-like growth factor 2 receptor
Click here to display 27 evidence detail records.
HumanIDUA3425iduronidase, alpha-L-
INFERRED
HumanHPS13257Hermansky-Pudlak syndrome 1
Click here to display 27 evidence detail records.
HumanGALNS2588galactosamine (N-acetyl)-6-sulfate sulfatase
Click here to display 27 evidence detail records.
HumanCTSD1509cathepsin D
INFERRED
HumanTPP11200tripeptidyl peptidase I
Click here to display 27 evidence detail records.
HumanCLCN71186chloride channel, voltage-sensitive 7
Click here to display 27 evidence detail records.
HumanCLCN61185chloride channel, voltage-sensitive 6
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0003172abnormal lysosome physiology0self