TaoMedAI/RareMedData huggingface dataset:
Gene: MICU1
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Dystonia (HP:0001332)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Dystonia (HP:0001332)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Tremor (HP:0001337)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Chorea (HP:0002072)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Chorea (HP:0002072)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Clonus (HP:0002169)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Resting tremor (HP:0002322)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Progressive extrapyramidal muscular rigidity (HP:0007158)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Clumsiness (HP:0002312)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Hypoplastic anterior limbs of the internal capsule (HP:0034051)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Amblyopia (HP:0000646)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Narrow face (HP:0000275)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Growth delay (HP:0001510)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Central core regions in muscle fibers (HP:0030230)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Extremely elevated creatine kinase (HP:0030235)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Short neck (HP:0000470)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Ptosis (HP:0000508)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: CACNG2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
Gene: CACNG2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
Gene: CACNG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
Gene: CACNG2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
Gene: CACNG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
Gene: CITED2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CITED2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 8 (OMIM:614433)
Gene: CITED2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR SEPTAL DEFECT 2 (OMIM:614431)
Gene: CITED2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Junctional ectopic tachycardia (HP:0011716)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Automatic atrial tachycardia (HP:0011700)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Congenital onset (HP:0003577)
Associated disease: VENTRICULAR SEPTAL DEFECT 2 (OMIM:614431)
Gene: CITED2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: ATRIAL SEPTAL DEFECT 8 (OMIM:614433)
Gene: CITED2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CITED2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CITED2
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: VENTRICULAR SEPTAL DEFECT 2 (OMIM:614431)
Gene: CITED2
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Atrial arrhythmia (HP:0001692)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CITED2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CITED2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ATRIAL SEPTAL DEFECT 8 (OMIM:614433)
Gene: CITED2
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Premature atrial contractions (HP:0006699)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CITED2
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: CITED2
Phenotype: Paradoxical splitting of the second heart sound (HP:0031663)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: CITED2
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CITED2
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Gene: SEMA3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEMA3A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEMA3A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SEMA3A
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SEMA3A
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SEMA3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SEMA3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEMA3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SEMA3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEMA3A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SEMA3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEMA3A
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)