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hypertrophic cardiomyopathy

Disease Summary
Associated Targets (183)
Tbio

115

Tchem

35

Tclin

29

Tdark

4


Mondo Description A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Disease Ontology Description An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
Mondo Term and Equivalent IDs
MONDO:0005045:  hypertrophic cardiomyopathy
COHD:4124693: 
DOID:11984: hypertrophic cardiomyopathy
EFO:0000538: 
ICD10:I42.1: 
MESH:D002312: 
NCIT:C34449: 
Orphanet:217569: 
SCTID:233873004: 
UMLS:C0007194: 
GWAS Targets (70)
Items per page:
1 – 5 of 70
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
FH1/FH2 domain-containing protein 3 (FHOD3)
Tbio
3
3
2
1.5
94.3
BAG family molecular chaperone regulator 3 (BAG3)
Tbio
3
2
1
1.4
91.7
Phosphatidylinositide phosphatase SAC2 (INPP5F)
Tbio
3
2
1
1.4
91.7
Nucleolysin TIAR (TIAL1)
Tbio
3
2
1
1.4
91.7
Tubulin polyglutamylase complex subunit 2 (TPGS2)
Tdark
1
2
2
87.1
Items per page:
1 – 5 of 70
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
FH1/FH2 domain-containing protein 3 (FHOD3)
Tbio
2
1.5
94.3
BAG family molecular chaperone regulator 3 (BAG3)
Tbio
1
1.4
91.7
Phosphatidylinositide phosphatase SAC2 (INPP5F)
Tbio
1
1.4
91.7
Nucleolysin TIAR (TIAL1)
Tbio
1
1.4
91.7
Tubulin polyglutamylase complex subunit 2 (TPGS2)
Tdark
2
87.1
Target Novelty (Tin-x)