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Details
Link-It Detail - Disease - Cardiomyopathy, Dilated
Debug Stats
  • ### Total Build Time: 186 ms 58.006 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 441 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=17 ms Completed: 17 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= 982 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 4.067 KB
  • CONCEPT_RELATIONSHIPS gt=109 ms Completed: 109 ms rowSize= 14.467 KB
  • CONCEPT_GENES gt=37 ms Completed: 37 ms rowSize= 36.370 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cardiomyopathy, Dilated C0007193
Definition (1)
A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Cardiomyopathies C0878544
img Cardiomegaly C0018800
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Cardiomyopathies C0878544
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Cardiomegaly C0018800
img Pathological Conditions, Signs and Symptoms C0039058img Pathological Conditions, Anatomical C07521355img Cardiomegaly C0018800
Relationships (160)

Relation Types:
diso_​to_​anat : 20
diso_​to_​chem : 47
diso_​to_​diso : 64
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 26


Relationships:
none : 140
clinically_​similar : 1
is_​associated_​anatomic_​site_​of : 3
isa : 4
location_​of : 1
mapped_​to : 7
may_​treat : 3
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN423img genetic aspects C0017399
DISO_to_DISO420img Complication Aspects C1171258
DISO_to_DISO383img Complication Aspects C1171258
DISO_to_PHEN317img genetic aspects C0017399
DISO_to_DISO245img Heart Failure C0018801
DISO_to_DISO174img Heart Failure C0018801
DISO_to_DISO174img Ventricular Dysfunction, Left C0242698
DISO_to_DISO172img DYSFUNCTION, LEFT VENTRICULAR C0242698
DISO_to_ANAT152img Myocardium C0027061
DISO_to_ANAT147img Myocardium C0027061
DISO_to_ANAT122img In Blood C0005768
DISO_to_DISO107img Myocardial Ischemia C0151744
DISO_to_ANAT106img In Blood C0005768
DISO_to_ANAT105img Heart Ventricle C0018827
DISO_to_DISO93img Myocardial Ischemia C0151744
DISO_to_PHYS76img Left Ventricular Function C0080310
DISO_to_DISO75img Mitral Valve Insufficiency C0026266
DISO_to_ANAT73img Heart Ventricle C0018827
DISO_to_PHYS71img Left Ventricular Function C0080310
DISO_to_DISO70img Myocarditis C0027059
DISO_to_DISO69img Myocarditis C0027059
DISO_to_PHYS69img Mutation C0026882
DISO_to_ANAT61img Myocytes, Cardiac C0225828
DISO_to_DISO57img Mitral Valve Insufficiency C0026266
DISO_to_DISO57img chemically induced C0007994
Genes (61)

Species:
human : 61
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLC25A5P8392301solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8
img GENERIF, Score=1000, Pubmed Id: 16107323, UMLKSK CUI: C0007193
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img OMIM, Score=1000, UMLKSK CUI: C0007193
img GENERIF, Score=861, Pubmed Id: 16055927, UMLKSK CUI: C0007193
img OMIM, Score=882, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 17244376, UMLKSK CUI: C0007193
HumanMYPN84665myopalladin
img GENERIF, Score=1000, Pubmed Id: 18006477, UMLKSK CUI: C0007193
HumanFKRP79147fukutin related protein
img GENERIF, Score=1000, Pubmed Id: 15833432, UMLKSK CUI: C0007193
img OMIM, Score=1000, UMLKSK CUI: C0007193
img GENERIF, Score=660, Pubmed Id: 18060779, UMLKSK CUI: C0007193
img OMIM, Score=1000, UMLKSK CUI: C0007193
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0007193
HumanCTNNA329119catenin (cadherin-associated protein), alpha 3
img GENERIF, Score=673, Pubmed Id: 12596047, UMLKSK CUI: C0007193
HumanDOLK22845dolichol kinase
img OMIM, Score=1000, UMLKSK CUI: C0007193
HumanLDB311155LIM domain binding 3
img GENERIF, Score=1000, Pubmed Id: 14660611, UMLKSK CUI: C0007193
HumanABCC910060ATP-binding cassette, sub-family C (CFTR/MRP), member 9
img GENERIF, Score=901, Pubmed Id: 15034580, UMLKSK CUI: C0007193
HumanDNAJA39093DnaJ (Hsp40) homolog, subfamily A, member 3
img GENERIF, Score=901, Pubmed Id: 16327803, UMLKSK CUI: C0007193
HumanTNFSF108743tumor necrosis factor (ligand) superfamily, member 10
img GENERIF, Score=734, Pubmed Id: 16288714, UMLKSK CUI: C0007193
HumanTCAP8557titin-cap
img OMIM, Score=716, UMLKSK CUI: C0007193
HumanCSRP38048cysteine and glycine-rich protein 3 (cardiac LIM protein)
img GENERIF, Score=1000, Pubmed Id: 12642359, UMLKSK CUI: C0007193
HumanALMS17840Alstrom syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0007193
HumanVCL7414vinculin
img GENERIF, Score=698, Pubmed Id: 16236538, UMLKSK CUI: C0007193
HumanTTN7273titin
img OMIM, Score=1000, UMLKSK CUI: C0007193
img OMIM, Score=1000, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 11846417, UMLKSK CUI: C0007193
HumanTPM17168tropomyosin 1 (alpha)
img GENERIF, Score=901, Pubmed Id: 17932326, UMLKSK CUI: C0007193
HumanTP537157tumor protein p53
img GENERIF, Score=1000, Pubmed Id: 18375498, UMLKSK CUI: C0007193
HumanTNNT27139troponin T type 2 (cardiac)
img OMIM, Score=1000, UMLKSK CUI: C0007193
HumanTNNC17134troponin C type 1 (slow)
img GENERIF, Score=1000, Pubmed Id: 18063575, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 18803402, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 17977476, UMLKSK CUI: C0007193
HumanTNF7124tumor necrosis factor
img GENERIF, Score=840, Pubmed Id: 16427798, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 16730227, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 12163370, UMLKSK CUI: C0007193
HumanTMPO7112thymopoietin
img GENERIF, Score=1000, Pubmed Id: 16247757, UMLKSK CUI: C0007193
HumanTAZ6901tafazzin
img OMIM, Score=1000, UMLKSK CUI: C0007193
img GENERIF, Score=1000, Pubmed Id: 11896212, UMLKSK CUI: C0007193
img OMIM, Score=882, UMLKSK CUI: C0007193
HumanSCN5A6331sodium channel, voltage-gated, type V, alpha subunit
img OMIM, Score=1000, UMLKSK CUI: C0007193
HumanRYR26262ryanodine receptor 2 (cardiac)
img GENERIF, Score=1000, Pubmed Id: 17875969, UMLKSK CUI: C0007193
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0007193Cardiomyopathy, Dilated0self