Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Lysosomal Storage Diseases
Debug Stats
  • ### Total Build Time: 199 ms 40.562 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 520 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 2.724 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=109 ms Completed: 109 ms rowSize= 12.946 KB
  • CONCEPT_GENES gt=58 ms Completed: 58 ms rowSize= 19.274 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lysosomal Storage Diseases C0085078
Definition (1)
A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Children (6)
img Cholesterol Ester Storage Disease C0008384
img Aspartylglucosaminuria C0268225
img Mucopolysaccharidoses C0026703
img Lysosomal Storage Diseases, Nervous System C0751738
img Cystinosis C0010690
img Mannosidase Deficiency Diseases C1257960
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (56)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 9
diso_​to_​diso : 39
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 23
associated_​with : 2
isa : 25
mapped_​to : 5
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN80img genetic aspects C0017399
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_ANAT32img Lysosomes C0024369
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_ANAT17img Lysosomes C0024369
DISO_to_ANAT13img In Blood C0005768
DISO_to_PHYS10img Autophagies C0004391
DISO_to_CHEM9img Enzymes C0014442
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_CHEM8img Enzymes C0014442
DISO_to_DISO8img Neurodegenerative Diseases C0524851
DISO_to_CHEM7img Proteins C0033684
DISO_to_CHEM6img Hydrolase C0020289
DISO_to_CHEM6img Hydrolases C0020289
DISO_to_DISO6img chemically induced C0007994
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM5img Alpha-galactosidase C0002268
DISO_to_CHEM5img Asialogangliosides C0017978
DISO_to_CHEM5img alpha-Galactosidase C0002268
DISO_to_DISO5img Animal Disease Models C0012644
DISO_to_DISO5img Disease, Rare C0678236
DISO_to_DISO5img Muscular Diseases C0026848
DISO_to_PHYS5img Mutation C0026882
DISO_to_CHEMassociated_withimg Enzymes C0014442
DISO_to_DISOisaimg ACID PHOSPHATASE DEFICIENCY C0268410
Genes (52)

Species:
human : 52
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanMCOLN157192mucolipin 1
img GENERIF, Score=988, Pubmed Id: 17306511, UMLKSK CUI: C0085078
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanNPC210577Niemann-Pick disease, type C2
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanRAB9A9367RAB9A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanRAB7A7879RAB7A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanVIM7431vimentin
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanUGCG7357UDP-glucose ceramide glucosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanUCHL17345ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
img GENERIF, Score=1000, Pubmed Id: 16888648, UMLKSK CUI: C0085078
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanTLR47099toll-like receptor 4
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSREBF26721sterol regulatory element binding transcription factor 2
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSNCA6622synuclein, alpha (non A4 component of amyloid precursor)
img GENERIF, Score=1000, Pubmed Id: 17653558, UMLKSK CUI: C0085078
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSLC6A46532solute carrier family 6 (neurotransmitter transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanSGSH6448N-sulfoglucosamine sulfohydrolase
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanCCL186362chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanRAB4A5867RAB4A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0085078
HumanPSAP5660prosaposin
img OMIM, Score=1000, UMLKSK CUI: C0085078
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085078Lysosomal Storage Diseases0self