TaoMedAI/RareMedData huggingface dataset:
Gene: MYL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Clonus (HP:0002169)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Chest pain (HP:0100749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Vertigo (HP:0002321)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Death in infancy (HP:0001522)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Systolic anterior motion of the mitral valve (HP:0031656)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL3
Phenotype: T-wave inversion (HP:0010872)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Endocardial fibrosis (HP:0006685)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Gene: MYL4
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Palpitations (HP:0001962)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Young adult onset (HP:0011462)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Bradycardia (HP:0001662)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYL4
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: MYL4
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: MYL4
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Gene: MYLK
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Fetal megacystis (HP:0010956)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Gene: MYLK
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Sepsis (HP:0100806)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Gene: MYLK
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Generalized edema (HP:0007430)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Gene: MYLK
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Hydroureter (HP:0000072)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Gene: MYLK
Phenotype: Hydroureter (HP:0000072)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Megacystis (HP:0000021)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Gene: MYLK
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Gene: MYLK
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Neoplasm of the heart (HP:0100544)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)