Mitochondria Phenome Knowledgebase

Phenotypic Feature Cardiomyopathy finds 45 Gene-Feature associations that are associated with 44 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Cardiomyopathy cardiomegaly; myocardium thickened cardiovascular 1945557 2000272 4022672
ACADM 201450 Cardiomyopathy left ventricle hypertrophy; repolarisation disturbances; cardiomegaly; biventricular dilatation cardiovascular 2380628 7876853 7929823 15858970
ACADS 201470 Cardiomyopathy bilateral; hypertrophic; ventricular dysfunction; left ventricle cardiovascular 9932958
ACADVL 201475 Cardiomyopathy hypertrophic; dysfunction; cardiomegaly; myocardium thickened; concentric ventricular hypertrophy; biventricular hypertrophy cardiovascular 7479827 7494405 9498103 9709714 9877038 11433098 16488171
ALAS2 301300 Cardiomyopathy cardiomegaly; cardiac enlargement cardiovascular 10029606
ALDH5A1 271980 Cardiomyopathy hypertrophic; left ventricle cardiovascular 9093300
ATP7B 277900 Cardiomyopathy mild; hypertrophic; dilated cardiovascular 3829752 10790207
COX10 220110 Cardiomyopathy hypertrophic cardiovascular 12928484
COX15 220110 Cardiomyopathy hypertrophic; biventricular cardiovascular 12474143
CPT2 600649 Cardiomyopathy cardiomegaly; dilated; atrial enlargement; ventricular enlargement; myocardium thickened cardiovascular 1528846 1999498 11477613 12560872
CYP11B1 202010 Cardiomyopathy hypertrophic; ventricular cardiovascular 11095433
DGUOK 251880 Cardiomyopathy cardiomegaly cardiovascular 15964659
DLD 248600 Cardiomyopathy hypertrophic cardiovascular 10448086 12925875 15712224
DNAJC19 608977 Cardiomyopathy dilated cardiovascular 16055927
ETFA 231680 Cardiomyopathy hypertrophic myocardiopathy; myocardiopathy cardiovascular 16510302
ETFDH 231680 Cardiomyopathy myocardium steatosis cardiovascular 12815589
FXN 229300 Cardiomyopathy symmetric; concentric; hypertrophic; dilated; septal hypertrophy; ventricular hypertrophy; EKG abnormal; T wave inversion; systolic murmur; myocyte hypertrophy; interstitial fibrosis; cardiac disease cardiovascular 3799693 4673109 6231891 9326946 9539351 10533031 10607838 10767311 11269509 11351269 11809170 12878293 15061120 16344344
GCDH 231670 Cardiomyopathy cardiovascular 12888985
GCK 602485 Cardiomyopathy cardiomegaly; glycogen elevated cardiovascular 15277402
HADH 231530 Cardiomyopathy dilated; hypertrophic cardiovascular 16176262
HADHA 609015 Cardiomyopathy dilated; ventricular dilatation; myocardial fibrosis; myocarditis; inflammatory cells; cardiomegaly; intramyocardial lipids; lipid vacuolization; contractility abnormal cardiovascular 7738175 8865274 9739053 10352164 10400133 11855930 12971428 14630990 15902556
HADHA 609016 Cardiomyopathy cardiomegaly; hypertrophic; left ventricular; dilated; endomyocardial fibroelastosis; mitral valve abnormal cardiovascular 8094173 9003853 9403664 10352164 10518281 14605499 15902556
HADHB 609015 Cardiomyopathy hypertrophic; myocardial hypertrophy; dilated; myocardial fibrosis; ventricular hypertrophy cardiovascular 9259266 12548384 12754706 15243991 15902556 16423905
HMGCL 246450 Cardiomyopathy rare cardiovascular 9439591
HSD17B10 300438 Cardiomyopathy hypertrophic; concentric; left ventricle; cardiomegaly; cardiopathy cardiovascular 12112118 16148061
MLYCD 248360 Cardiomyopathy hypertrophic; dilatative; left ventricle dilatation; cardiomegaly; myocardium thickening cardiovascular 7609455 9177981 9869665 10417274 11461195 11550227 12955715
MUT 251000 Cardiomyopathy cardiovascular 11350191
NDUFA12L 252010 Cardiomyopathy hypertrophic cardiovascular 16200211
NDUFS2 252010 Cardiomyopathy hypertrophic; ventricular cardiovascular 11220739
NDUFS4 252010 Cardiomyopathy hypertrophic; concentric; hypercontractility cardiovascular 10944442 11181577
NDUFS7 252010 Cardiomyopathy neonatal cardiomyopathy cardiovascular 15576045
NDUFS8 252010 Cardiomyopathy hypertrophic; obstructive; cardiac murmur cardiovascular 9837812 15981016
NDUFV2 252010 Cardiomyopathy hypertrophic cardiovascular 12754703
OXCT1 245050 Cardiomyopathy cardiomegaly cardiovascular 9392403
PCCB 606054 Cardiomyopathy myocardiopathy; cardiopathy cardiovascular 10780784
PEO1 609286 Cardiomyopathy cardiovascular 15258213
POLG 203700 Cardiomyopathy cardiovascular 16621917
POLG 258450 Cardiomyopathy incipient cardiomyopathy; dilated; atrial hypertrophy cardiovascular 14694057 15477547 16401742 16621917
SCO2 604377 Cardiomyopathy hypertrophic; cardiac murmur; septal hypertrophy; myocardial fibre disarray cardiovascular 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16326995 16765077
SDHA 252011 Cardiomyopathy cardiomegaly cardiovascular 12794685
SLC19A2 249270 Cardiomyopathy dilated cardiovascular 11380424 14994241
SLC25A20 212138 Cardiomyopathy hypertrophic; ventricular hypertrophy; ventricular septal hypertrophy; cardiomegaly; septal hypertrophy cardiovascular 1598097 9544911 9686371 10384384 10384385 10876004 11350184 12859414 15057979 15159657 15365988
SLC25A4 609283 Cardiomyopathy hypertrophic; ventricular atrophy; ejection murmur; left ventricular septum abnormal; myocardium thickened cardiovascular 16155110
STAR 201710 Cardiomyopathy cardiomegaly cardiovascular 9141542
SURF1 220110 Cardiomyopathy myocardial depression; hypertrophic; decreased fractional shortening; EKG abnormal cardiovascular 10746561 16225813 16326995
TAZ 300069 Cardiomyopathy congenital; dilated; hypertrophy; left ventricular hypertrophy; endomyocardial fibroelastosis; cardiomegaly cardiovascular 7616547 9382096
TAZ 300069 Congenital-heart-defects tricuspid regurgitation; right to left shunt at the foramen ovale; congenital cardiomyopathy cardiovascular 7616547 9382096
TAZ 300183 Cardiomyopathy dilated; hypertrophic; cardiomegaly; endomyocardial fibroelastosis; endocardial fibroelastosis cardiovascular 9332651 11238270
TAZ 302060 Cardiomyopathy dilated cardiomyopathy; ventricular dilation; septal hypertrophy; endomyocardial fibroelastosis; endocardial fibroelastosis; cardiac murmur; intermittend systolic murmur; hypocontractility; ECG abnormal cardiovascular 8630491 8739954 9345098 9382096 10484795 12032589 12529714 14654353 15098233 15124852 16235007

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