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Details
Link-It Detail - Disease - Cystic Fibrosis
Debug Stats
  • ### Total Build Time: 324 ms 56.960 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 670 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1.828 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 5.426 KB
  • CONCEPT_RELATIONSHIPS gt=260 ms Completed: 260 ms rowSize= 15.678 KB
  • CONCEPT_GENES gt=45 ms Completed: 45 ms rowSize= 31.686 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cystic Fibrosis C0010674
Definition (1)
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Lung Diseases C0024115
img Infant, Newborn, Diseases C0021290
img Genetic Diseases, Inborn C0950123
img Pancreatic Diseases C0030286
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 Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Digestive System Diseases C0012242img Pancreatic Diseases C00302863img Pancreatic Diseases C0030286
Relationships (246)

Relation Types:
diso_​to_​anat : 31
diso_​to_​chem : 76
diso_​to_​diso : 105
diso_​to_​gene : 9
diso_​to_​phen : 2
diso_​to_​phys : 23


Relationships:
none : 177
associated_​with : 3
classified_​as : 5
clinically_​similar : 1
gene_​associated_​with_​disease : 8
gene_​product_​malfunction_​associated_​with_​disease : 1
has_​multi_​level_​category : 1
isa : 3
location_​of : 1
manifestation_​of : 23
mapped_​to : 2
may_​treat : 18
related_​to : 2
use : 1
Page Size
Current 25
  Page 1 of 10
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO1273img Complication Aspects C1171258
DISO_to_DISO956img Complication Aspects C1171258
DISO_to_PHEN821img genetic aspects C0017399
DISO_to_PHEN807img genetic aspects C0017399
DISO_to_CHEM497img Cystic Fibrosis Transmembrane Conductance Regulator C0056889
DISO_to_CHEM438img Cystic Fibrosis Transmembrane Conductance Regulator C0056889
DISO_to_DISO368img Pseudomonas Infections C0033817
DISO_to_CHEM313img Anti-Bacterial Agents C0279516
DISO_to_DISO237img Pseudomonas Infections C0033817
DISO_to_CHEM223img Anti-Bacterial Agents C0279516
DISO_to_ANAT204img Lung C0024109
DISO_to_ANAT162img In Blood C0005768
DISO_to_ANAT147img Lung C0024109
DISO_to_ANAT138img In Blood C0005768
DISO_to_PHYS136img Mutation C0026882
DISO_to_PHYS131img Mutation C0026882
DISO_to_ANAT121img Sputum C0038056
DISO_to_DISO116img INFECT RESPIRATORY C0035243
DISO_to_DISO87img INFECT RESPIRATORY C0035243
DISO_to_ANAT86img Mucosa, Respiratory C0751974
DISO_to_ANAT84img Epithelial Cells C0014597
DISO_to_ANAT83img Sputum C0038056
DISO_to_DISO81img Lung Diseases C0024115
DISO_to_DISO75img Burkholderia Infections C0282677
DISO_to_CHEM72img Tobramycin C0040341
Genes (76)

Species:
human : 76
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSCGB3A2117156secretoglobin, family 3A, member 2
img GENERIF, Score=1000, Pubmed Id: 12847263, UMLKSK CUI: C0010674
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img GENERIF, Score=694, Pubmed Id: 15489228, UMLKSK CUI: C0010674
HumanGOPC57120golgi-associated PDZ and coiled-coil motif containing
img GENERIF, Score=673, Pubmed Id: 18754678, UMLKSK CUI: C0010674
HumanDEFB103B55894defensin, beta 103B
img GAD, Score=1000, Pubmed Id: 15820309, UMLKSK CUI: C0010674
HumanTREM154210triggering receptor expressed on myeloid cells 1
img GENERIF, Score=734, Pubmed Id: 18628981, UMLKSK CUI: C0010674
HumanFXYD553827FXYD domain containing ion transport regulator 5
img GENERIF, Score=1000, Pubmed Id: 18263667, UMLKSK CUI: C0010674
HumanPLUNC51297
img GENERIF, Score=1000, Pubmed Id: 17988392, UMLKSK CUI: C0010674
HumanJMJD623210jumonji domain containing 6
img GENERIF, Score=1000, Pubmed Id: 11877474, UMLKSK CUI: C0010674
HumanCLCA422802chloride channel accessory 4
img GENERIF, Score=1000, Pubmed Id: 15490240, UMLKSK CUI: C0010674
HumanMASP210747mannan-binding lectin serine peptidase 2
img GENERIF, Score=694, Pubmed Id: 17045845, UMLKSK CUI: C0010674
HumanGNB2L110399guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1
img GENERIF, Score=694, Pubmed Id: 11956211, UMLKSK CUI: C0010674
HumanKLF210365Kruppel-like factor 2 (lung)
img GENERIF, Score=1000, Pubmed Id: 18218994, UMLKSK CUI: C0010674
HumanVAMP39341vesicle-associated membrane protein 3
img GENERIF, Score=673, Pubmed Id: 11809765, UMLKSK CUI: C0010674
HumanACCN39311
img GENERIF, Score=658, Pubmed Id: 17012229, UMLKSK CUI: C0010674
HumanBEST17439bestrophin 1
img GENERIF, Score=1000, Pubmed Id: 17361457, UMLKSK CUI: C0010674
HumanVCP7415valosin containing protein
img GENERIF, Score=1000, Pubmed Id: 16621797, UMLKSK CUI: C0010674
HumanTXN7295thioredoxin
img GENERIF, Score=734, Pubmed Id: 14695120, UMLKSK CUI: C0010674
HumanTNFRSF1A7132tumor necrosis factor receptor superfamily, member 1A
img GENERIF, Score=1000, Pubmed Id: 16463024, UMLKSK CUI: C0010674
HumanTNF7124tumor necrosis factor
img GENERIF, Score=651, Pubmed Id: 16622779, UMLKSK CUI: C0010674
HumanTLR57100toll-like receptor 5
img GENERIF, Score=694, Pubmed Id: 18684966, UMLKSK CUI: C0010674
img GENERIF, Score=1000, Pubmed Id: 18490781, UMLKSK CUI: C0010674
HumanTLR47099toll-like receptor 4
img GENERIF, Score=1000, Pubmed Id: 16830219, UMLKSK CUI: C0010674
HumanTLR27097toll-like receptor 2
img GENERIF, Score=694, Pubmed Id: 18423053, UMLKSK CUI: C0010674
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=1000, Pubmed Id: 16207846, UMLKSK CUI: C0010674
img GENERIF, Score=1000, Pubmed Id: 17052957, UMLKSK CUI: C0010674
HumanTF7018transferrin
img GENERIF, Score=1000, Pubmed Id: 18344013, UMLKSK CUI: C0010674
HumanTAP26891transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
img GAD, Score=1000, Pubmed Id: 12026214, UMLKSK CUI: C0010674
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010674Cystic Fibrosis0self