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Details
Link-It Detail - Disease - alpha 1-Antitrypsin Deficiency
Debug Stats
  • ### Total Build Time: 42 ms 32.409 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 465 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.820 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 5.389 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 13.144 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 9.870 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
alpha 1-Antitrypsin Deficiency C0221757
Definition (1)
A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Lung Diseases C0024115
img Genetic Diseases, Inborn C0950123
img Liver Diseases C0023895
img Subcutaneous Emphysema C0038536
Ancestral Roots
RootRoot Plus OneDepthParent
img Respiratory Tract Diseases C0035242img Lung Diseases C00241153img Lung Diseases C0024115
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Digestive System Diseases C0012242img Liver Diseases C00238953img Liver Diseases C0023895
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306605img Subcutaneous Emphysema C0038536
Relationships (48)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 8
diso_​to_​diso : 32
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 26
associated_​with : 2
classifies : 2
manifestation_​of : 12
may_​treat : 4
related_​to : 1
sort_​version_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN143img genetic aspects C0017399
DISO_to_DISO128img Complication Aspects C1171258
DISO_to_CHEM125img alpha 1-Antitrypsin C0002191
DISO_to_PHEN121img genetic aspects C0017399
DISO_to_DISO118img Complication Aspects C1171258
DISO_to_CHEM91img alpha 1-Antitrypsin C0002191
DISO_to_DISO63img Chronic Obstructive Airway Disease C0024117
DISO_to_ANAT37img In Blood C0005768
DISO_to_DISO31img Pulmonary Emphysema C0034067
DISO_to_DISO28img Pulmonary Emphysema C0034067
DISO_to_ANAT27img In Blood C0005768
DISO_to_DISO26img Chronic Obstructive Airway Disease C0024117
DISO_to_DISO21img Liver Diseases C0023895
DISO_to_DISO18img Liver Diseases C0023895
DISO_to_DISO13img Liver Cirrhosis C0023890
DISO_to_DISO12img Lung Diseases C0024115
DISO_to_DISO11img Lung Diseases C0024115
DISO_to_DISO9img Panniculitis C0030326
DISO_to_ANAT8img Lung C0024109
DISO_to_DISO8img Asthma C0004096
DISO_to_DISO8img Cystic Fibrosis C0010674
DISO_to_ANAT7img Liver C0023884
DISO_to_CHEM7img Trypsin Inhibitors C0041242
DISO_to_DISO7img Emphysema C0013990
DISO_to_PHYS7img GENET PREDISPOSITION C0314657
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanCDIPT10423CDP-diacylglycerol--inositol 3-phosphatidyltransferase
img GENERIF, Score=1000, Pubmed Id: 16312203, UMLKSK CUI: C0221757
HumanTNF7124tumor necrosis factor
img GENERIF, Score=1000, Pubmed Id: 18620570, UMLKSK CUI: C0221757
HumanSERPINA15265serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
img GENERIF, Score=1000, Pubmed Id: 16137891, UMLKSK CUI: C0221757
img GENERIF, Score=913, Pubmed Id: 15653097, UMLKSK CUI: C0221757
img GAD, Score=926, Pubmed Id: 2567291, UMLKSK CUI: C0221757
img GENERIF, Score=1000, Pubmed Id: 17654345, UMLKSK CUI: C0221757
img GENERIF, Score=1000, Pubmed Id: 11744816, UMLKSK CUI: C0221757
img GAD, Score=1000, Pubmed Id: 1967187, UMLKSK CUI: C0221757
img GAD, Score=1000, Pubmed Id: 16387939, UMLKSK CUI: C0221757
img GENERIF, Score=1000, Pubmed Id: 16312203, UMLKSK CUI: C0221757
HumanIL103586interleukin 10
img GENERIF, Score=901, Pubmed Id: 17690329, UMLKSK CUI: C0221757
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221757alpha 1-Antitrypsin Deficiency0self