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Details
Link-It Detail - Disease - Cardiomyopathy, Hypertrophic, Familial
Debug Stats
  • ### Total Build Time: 39 ms 29.640 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 382 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= 1,006 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 4.115 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 9.094 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 13.319 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cardiomyopathy, Hypertrophic, Familial C0949658
Definition (1)
An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, Inborn C0950123
img Cardiomyopathy, Hypertrophic C0007194
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Cardiovascular Diseases C0007222img Heart Diseases C00187995img Cardiomyopathy, Hypertrophic C0007194
img Cardiovascular Diseases C0007222img Heart Diseases C00187997img Cardiomyopathy, Hypertrophic C0007194
Relationships (20)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 5
diso_​to_​diso : 6
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 13
alias_​of : 2
is_​associated_​anatomic_​site_​of : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN141img genetic aspects C0017399
DISO_to_PHEN119img genetic aspects C0017399
DISO_to_PHYS39img Mutation C0026882
DISO_to_PHYS38img Mutation C0026882
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_CHEM22img Carrier Protein C0007292
DISO_to_CHEM20img Myosin Heavy Chains C0027100
DISO_to_CHEM19img Carrier Protein C0007292
DISO_to_CHEM19img Myosin Heavy Chains C0027100
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_ANAT15img Myocardium C0027061
DISO_to_CHEM15img Cardiac Muscle Myosins C0949656
DISO_to_DISO15img Cardiomyopathy, Hypertrophic C0007194
DISO_to_ANATis_associated_anatomic_site_ofimg Cardiovascular System C0007226
DISO_to_ANATis_associated_anatomic_site_ofimg Chest C0817096
DISO_to_ANATis_associated_anatomic_site_ofimg Heart C0018787
DISO_to_ANATis_associated_anatomic_site_ofimg Respiratory System C0035237
DISO_to_DISOalias_ofimg Asymmetric Septal Hypertrophy C0205700
DISO_to_DISOpermuted_term_ofimg Cardiomyopathy, Hypertrophic, Familial C0949658
DISO_to_DISOalias_ofimg Obstructive asymmetric septal hypertrophy C0597124
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanPRKAG251422protein kinase, AMP-activated, gamma 2 non-catalytic subunit
img OMIM, Score=1000, UMLKSK CUI: C0949658
HumanTPM17168tropomyosin 1 (alpha)
img GENERIF, Score=1000, Pubmed Id: 15031138, UMLKSK CUI: C0949658
HumanTNNT27139troponin T type 2 (cardiac)
img GENERIF, Score=1000, Pubmed Id: 15568820, UMLKSK CUI: C0949658
img GENERIF, Score=923, Pubmed Id: 16882671, UMLKSK CUI: C0949658
img GENERIF, Score=1000, Pubmed Id: 11857753, UMLKSK CUI: C0949658
img GENERIF, Score=884, Pubmed Id: 14722098, UMLKSK CUI: C0949658
img GENERIF, Score=1000, Pubmed Id: 16115869, UMLKSK CUI: C0949658
HumanTNNI37137troponin I type 3 (cardiac)
img GENERIF, Score=1000, Pubmed Id: 14575308, UMLKSK CUI: C0949658
img GENERIF, Score=1000, Pubmed Id: 14596793, UMLKSK CUI: C0949658
img GENERIF, Score=1000, Pubmed Id: 11801593, UMLKSK CUI: C0949658
img GENERIF, Score=1000, Pubmed Id: 11735257, UMLKSK CUI: C0949658
HumanMYL34634myosin, light chain 3, alkali; ventricular, skeletal, slow
img GENERIF, Score=1000, Pubmed Id: 11748309, UMLKSK CUI: C0949658
HumanMYL24633myosin, light chain 2, regulatory, cardiac, slow
img GENERIF, Score=1000, Pubmed Id: 11748309, UMLKSK CUI: C0949658
HumanMYH74625myosin, heavy chain 7, cardiac muscle, beta
img GENERIF, Score=1000, Pubmed Id: 11861413, UMLKSK CUI: C0949658
img OMIM, Score=1000, UMLKSK CUI: C0949658
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0949658Cardiomyopathy, Hypertrophic, Familial0self