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Details
Link-It Detail - Disease - Carney Complex
Debug Stats
  • ### Total Build Time: 87 ms 35.872 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 373 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= 1.810 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=12 ms Completed: 12 ms rowSize= 9.214 KB
  • CONCEPT_RELATIONSHIPS gt=32 ms Completed: 32 ms rowSize= 6.505 KB
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 16.294 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Carney Complex C0406810
Definition (1)
A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney complex, which are caused by mutations (changes) in different genes.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Abnormalities, Multiple C0000772
img Myxoma C0027149
img Heart Neoplasms C0018809
img Skin Abnormalities C0037268
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Neoplasms C0027651img Neoplasms by Histologic Type C00276526img Myxoma C0027149
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097825img Myxoma C0027149
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Neoplasms C0018809
img Neoplasms C0027651img Neoplasms by Site C00276535img Heart Neoplasms C0018809
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
Relationships (13)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 11
diso_​to_​phen : 1


Relationships:
none : 5
is_​finding_​of_​disease : 1
may_​be_​associated_​disease_​of_​disease : 6
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN33img genetic aspects C0017399
DISO_to_CHEM13img Cyclic AMP Dependent Protein Kinase RIalpha Subunit C0757191
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO5img Gastrointestinal Stromal Tumors C0238198
DISO_to_DISO5img Myxoma C0027149
DISO_to_DISOmay_be_associated_disease_of_diseaseimg ADRENAL CORTEX HYPERPLASIA C0342494
DISO_to_DISOmay_be_associated_disease_of_diseaseimg ATRIAL MYXOMA C0151241
DISO_to_DISOpermuted_term_ofimg Carney Complex C0406810
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Neurilemmoma C0027809
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Pituitary Adenoma C0032000
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Sertoli Cell Neoplasm of Testis C0349671
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Thyroid carcinoma C0549473
Genes (9)

Species:
human : 8
mouse : 1
SpeciesGeneGeneIdGene NameEvidence
MousePRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img NCI, Score=801, Pubmed Id: 15591278, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 15591278, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 15591278, UMLKSK CUI: C0406810
HumanSYP6855synaptophysin
img NCI, Score=801, Pubmed Id: 10084605, UMLKSK CUI: C0406810
HumanSLC5A16523solute carrier family 5 (sodium/glucose cotransporter), member 1
img NCI, Score=801, Pubmed Id: 8452856, UMLKSK CUI: C0406810
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
Click here to display 37 evidence detail records.
HumanMYH94627myosin, heavy chain 9, non-muscle
img GENERIF, Score=913, Pubmed Id: 11590545, UMLKSK CUI: C0406810
HumanMYH84626myosin, heavy chain 8, skeletal muscle, perinatal
img NCI, Score=801, Pubmed Id: 15992699, UMLKSK CUI: C0406810
HumanINHA3623inhibin, alpha
img NCI, Score=801, Pubmed Id: 9524568, UMLKSK CUI: C0406810
HumanCNC1257Carney complex, multiple neoplasia and lentiginosis
img NCI, Score=801, Pubmed Id: 11353891, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 15921845, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 10087203, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 12424709, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 12354125, UMLKSK CUI: C0406810
img NCI, Score=801, Pubmed Id: 16001434, UMLKSK CUI: C0406810
HumanCAST831calpastatin
img NCI, Score=801, Pubmed Id: 2851316, UMLKSK CUI: C0406810
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0406810Carney Complex0self