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Details
Link-It Detail - Disease - Pulmonary Alveolar Proteinosis
Debug Stats
  • ### Total Build Time: 112 ms 29.579 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 484 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=16 ms Completed: 16 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.500 KB
  • CONCEPT_RELATIONSHIPS gt=60 ms Completed: 60 ms rowSize= 11.258 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 14.080 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pulmonary Alveolar Proteinosis C0034050
Definition (1)
A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Lung Diseases C0024115
Ancestral Roots
RootRoot Plus OneDepthParent
img Respiratory Tract Diseases C0035242img Lung Diseases C00241153img Lung Diseases C0024115
Relationships (25)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 5
diso_​to_​diso : 9
diso_​to_​phen : 2


Relationships:
none : 15
associated_​with : 1
classifies : 2
clinically_​similar : 1
is_​associated_​anatomic_​site_​of : 3
location_​of : 1
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM35img Granulocyte-Macrophage Colony-Stimulating Factor C0079460
DISO_to_CHEM29img Granulocyte-Macrophage Colony-Stimulating Factor C0079460
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_CHEM15img Abs - Autoantibodies C0004358
DISO_to_ANAT14img Lung C0024109
DISO_to_DISO13img chemically induced C0007994
DISO_to_DISO12img AUTOIMMUNE DIS C0004364
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_ANAT10img Bronchoalveolar Lavage Fluid C0006279
DISO_to_CHEM10img Abs - Autoantibodies C0004358
DISO_to_ANAT8img Alveolar Macrophage C0085236
DISO_to_ANAT8img In Blood C0005768
DISO_to_ANAT8img Lung C0024109
DISO_to_DISO7img Dysmyelopoietic Syndromes C0026986
DISO_to_ANATis_associated_anatomic_site_ofimg Chest C0817096
DISO_to_ANATis_associated_anatomic_site_ofimg Lung C0024109
DISO_to_ANATlocation_ofimg Pulmonary Alveoli C0034051
DISO_to_ANATis_associated_anatomic_site_ofimg Respiratory System C0035237
DISO_to_CHEMassociated_withimg Proteins C0033684
DISO_to_DISOmapped_toimg Congenital Deficiency of Pulmonary Surfactant Protein B C3179539
DISO_to_DISOmapped_toimg Congenital pulmonary alveolar proteinosis C2931035
DISO_to_DISOclassifiesimg Other and unspecified lower respiratory disease C0810299
DISO_to_DISOclassifiesimg Other lower respiratory disease C0810021
DISO_to_DISOclinically_similarimg Pulmonary Alveolar Proteinosis C0034050
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanABCG19619ATP-binding cassette, sub-family G (WHITE), member 1
img GENERIF, Score=717, Pubmed Id: 17848583, UMLKSK CUI: C0034050
HumanNAPSA9476napsin A aspartic peptidase
img GENERIF, Score=923, Pubmed Id: 18216060, UMLKSK CUI: C0034050
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img OMIM, Score=1000, UMLKSK CUI: C0034050
HumanSFTPD6441surfactant protein D
img GENERIF, Score=1000, Pubmed Id: 15274124, UMLKSK CUI: C0034050
img GENERIF, Score=1000, Pubmed Id: 18251786, UMLKSK CUI: C0034050
HumanSFTPC6440surfactant protein C
img OMIM, Score=1000, UMLKSK CUI: C0034050
HumanSFTPB6439surfactant protein B
img OMIM, Score=1000, UMLKSK CUI: C0034050
HumanIL103586interleukin 10
img GENERIF, Score=1000, Pubmed Id: 14567558, UMLKSK CUI: C0034050
HumanCTSH1512cathepsin H
img GENERIF, Score=923, Pubmed Id: 18216060, UMLKSK CUI: C0034050
HumanCST31471cystatin C
img GENERIF, Score=1000, Pubmed Id: 18216060, UMLKSK CUI: C0034050
HumanCSF2RB1439colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
img OMIM, Score=1000, UMLKSK CUI: C0034050
HumanCSF2RA1438colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
img GENERIF, Score=1000, Pubmed Id: 18955567, UMLKSK CUI: C0034050
HumanCSF21437colony stimulating factor 2 (granulocyte-macrophage)
img GENERIF, Score=923, Pubmed Id: 14512323, UMLKSK CUI: C0034050
img GENERIF, Score=1000, Pubmed Id: 14567558, UMLKSK CUI: C0034050
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034050Pulmonary Alveolar Proteinosis0self