TaoMedAI/RareMedData huggingface dataset:
Gene: CACNB2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: BRUGADA SYNDROME 4 (OMIM:611876)
Gene: CACNB2
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: BRUGADA SYNDROME 4 (OMIM:611876)
Gene: CACNB2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB4
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Ataxia (HP:0001251)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Ataxia (HP:0001251)
Associated disease: Episodic ataxia type 5 (ORPHA:211067)
Gene: CACNB4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Dysarthria (HP:0001260)
Associated disease: Episodic ataxia type 5 (ORPHA:211067)
Gene: CACNB4
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: EEG with generalized spikes (HP:0012000)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Episodic ataxia type 5 (ORPHA:211067)
Gene: CACNB4
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Postural instability (HP:0002172)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Postural instability (HP:0002172)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Postural instability (HP:0002172)
Associated disease: Episodic ataxia type 5 (ORPHA:211067)
Gene: CACNB4
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Vertigo (HP:0002321)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Vertigo (HP:0002321)
Associated disease: Episodic ataxia type 5 (ORPHA:211067)
Gene: CACNB4
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Bilateral tonic-clonic seizure on awakening (HP:0007193)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Episodic ataxia type 5 (ORPHA:211067)
Gene: CACNB4
Phenotype: Nystagmus (HP:0000639)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Gene: CACNB4
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CACNB4
Phenotype: Late young adult onset (HP:0025710)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: CACNB4
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Gene: SLC25A20
Phenotype: Reduced circulating 6-pyruvoyltetrahydropterin synthase activity (HP:6000575)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Reduced tissue carnitine-acylcarnitine translocase activity (HP:6000574)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Lethargy (HP:0001254)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Lethargy (HP:0001254)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Seizure (HP:0001250)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Seizure (HP:0001250)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Coma (HP:0001259)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Coma (HP:0001259)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Hypotension (HP:0002615)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Hypotension (HP:0002615)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Hypothermia (HP:0002045)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Oliguria (HP:0100520)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Nystagmus (HP:0000639)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Irritability (HP:0000737)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Irritability (HP:0000737)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Cyanosis (HP:0000961)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Microcephaly (HP:0000252)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Bradycardia (HP:0001662)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Gene: SLC25A20
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: SLC25A20
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Gene: CAD
Phenotype: Poor speech (HP:0002465)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Diarrhea (HP:0002014)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Dysphagia (HP:0002015)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Broad-based gait (HP:0002136)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Progressive (HP:0003676)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Schistocytosis (HP:0001981)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Anemia (HP:0001903)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CAD
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Gene: CALCR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: CALCR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: CALM1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CALM1
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CALM1
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 (OMIM:614916)
Gene: CALM1
Phenotype: Syncope (HP:0001279)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CALM1
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CALM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 14 (OMIM:616247)
Gene: CALM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CALM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 (OMIM:614916)
Gene: CALM1
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CALM1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 (OMIM:614916)
Gene: CALM1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CALM1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CALM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LONG QT SYNDROME 14 (OMIM:616247)