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Details
Link-It Detail - Disease - Cardiomyopathies
Debug Stats
  • ### Total Build Time: 553 ms 49.819 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 524 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=76 ms Completed: 76 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=63 ms Completed: 63 ms rowSize= 5.323 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.499 KB
  • CONCEPT_RELATIONSHIPS gt=328 ms Completed: 328 ms rowSize= 15.428 KB
  • CONCEPT_GENES gt=59 ms Completed: 59 ms rowSize= 24.837 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cardiomyopathies C0878544
Definition (1)
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Heart Diseases C0018799
Children (12)
img Cardiomyopathy, Hypertrophic C0007194
img Cardiomyopathy, Alcoholic C0007192
img Glycogen Storage Disease Type IIb C0878677
img Endocardial Fibroelastosis C0014117
img Cardiomyopathy, Dilated C0007193
img Myocardial Reperfusion Injury C0027055
img Arrhythmogenic Right Ventricular Dysplasia C0349788
img Endomyocardial Fibrosis C0553980
img Cardiomyopathy, Restrictive C0007196
img Kearns-Sayre Syndrome C0022541
img Chagas Cardiomyopathy C0007930
img Myocarditis C0027059
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187993img Heart Diseases C0018799
Relationships (262)

Relation Types:
diso_​to_​anat : 30
diso_​to_​chem : 39
diso_​to_​diso : 166
diso_​to_​gene : 8
diso_​to_​phen : 3
diso_​to_​phys : 16


Relationships:
none : 177
associated_​with : 1
classified_​as : 6
gene_​associated_​with_​disease : 8
is_​associated_​anatomic_​site_​of : 4
isa : 51
location_​of : 1
mapped_​to : 9
parent_​is_​cdrh : 1
permuted_​term_​of : 1
related_​to : 2
use : 1
Page Size
Current 25
  Page 1 of 11
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO558img Complication Aspects C1171258
DISO_to_PHEN402img genetic aspects C0017399
DISO_to_DISO342img Complication Aspects C1171258
DISO_to_ANAT312img Myocardium C0027061
DISO_to_DISO280img chemically induced C0007994
DISO_to_DISO275img Ventricular Dysfunction, Left C0242698
DISO_to_PHEN226img genetic aspects C0017399
DISO_to_DISO215img chemically induced C0007994
DISO_to_DISO195img Heart Failure C0018801
DISO_to_ANAT189img Myocardium C0027061
DISO_to_DISO172img Myocardial Ischemia C0151744
DISO_to_DISO168img DYSFUNCTION, LEFT VENTRICULAR C0242698
DISO_to_DISO151img Calcinosis C0006663
DISO_to_DISO147img Sarcoidosis C0036202
DISO_to_ANAT144img Heart Ventricles C0018827
DISO_to_ANAT118img In Blood C0005768
DISO_to_DISO118img Tachycardia, Ventricular C0042514
DISO_to_ANAT109img In Blood C0005768
DISO_to_DISO108img Calcinosis C0006663
DISO_to_DISO105img Sarcoidosis C0036202
DISO_to_DISO99img Amyloidosis C0002726
DISO_to_DISO96img CARDIOVASC PREGN COMPL C0032963
DISO_to_DISO94img Myocardial Ischemia C0151744
DISO_to_ANAT91img Myocytes, Cardiac C0225828
DISO_to_DISO90img Heart Failure C0018801
Genes (207)

Species:
human : 207
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
img GAD, Score=1000, Pubmed Id: 11169252, UMLKSK CUI: C0878544
img GAD, Score=1000, Pubmed Id: 16101831, UMLKSK CUI: C0878544
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0878544
img OMIM, Score=833, UMLKSK CUI: C0878544
HumanSLC25A5P8392301solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanXIRP1165904xin actin-binding repeat containing 1
img GENERIF, Score=827, Pubmed Id: 16631741, UMLKSK CUI: C0878544
HumanHFE2148738hemochromatosis type 2 (juvenile)
img GENERIF, Score=861, Pubmed Id: 18725184, UMLKSK CUI: C0878544
img GENERIF, Score=861, Pubmed Id: 15611318, UMLKSK CUI: C0878544
HumanISM2145501isthmin 2
img GENERIF, Score=1000, Pubmed Id: 15194193, UMLKSK CUI: C0878544
HumanPPARGC1B133522peroxisome proliferator-activated receptor gamma, coactivator 1 beta
img GENERIF, Score=1000, Pubmed Id: 17018837, UMLKSK CUI: C0878544
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanMUC1694025mucin 16, cell surface associated
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanMYLK285366myosin light chain kinase 2
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanMYPN84665myopalladin
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanOBSCN84033obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanTMEM4379188transmembrane protein 43
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanC20orf779133
INFERRED, Score=800, UMLKSK CUI: C0878544
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0878544
HumanXYLT264132xylosyltransferase II
INFERRED, Score=800, UMLKSK CUI: C0878544
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0878544Cardiomyopathies0self