Mitochondria Phenome Knowledgebase

Phenotypic Feature Congenital-heart-defects finds 10 Gene-Feature associations that are associated with 10 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALAS2 301300 Congenital-heart-defects interatrial septal defect cardiovascular 7949148
ATPAF2 604273 Congenital-heart-defects congenital heart defect; small left ventricle cardiovascular 14757859
DMPK 160900 Congenital-heart-defects patent ductus arteriosus; ductus arteriosus cardiovascular 11807903
DNAJC19 608977 Congenital-heart-defects atrial septal defect; ASD cardiovascular 16055927
HADHA 609015 Congenital-heart-defects ductus arteriosus; left to right shunting; EKG findings cardiovascular 12971428
MRPS16 609204 Congenital-heart-defects patent ductus arteriosus; ductus arteriosus cardiovascular 15505824
SLC19A2 249270 Congenital-heart-defects congenital heart defect; atrial septal defect; ASD; Ebsteins anomaly; tricuspid valve dysplasia; congenital cardiac defects; heart anomalies cardiovascular 10874303 10978358 11380424 14627317 14994241
SLC25A20 212138 Congenital-heart-defects atrial septal defect; ASD; ostium secundum type; left to right shunt; pulmonary artery pressure elevated; subtle pericardial effusion cardiovascular 10876004
STAR 201710 Congenital-heart-defects ductus arteriosus; aorta coarctation cardiovascular 9141542
TAZ 300069 Congenital-heart-defects tricuspid regurgitation; right to left shunt at the foramen ovale; congenital cardiomyopathy cardiovascular 7616547 9382096
TAZ 300183 Congenital-heart-defects congenital heart disease; trabeculation; noncompaction; left ventricular myocardium; ductus arteriosus; hypoplastic ventricle cardiovascular 9332651 11238270

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