TaoMedAI/RareMedData huggingface dataset:
Gene: GDF15
Phenotype: Hyperemesis gravidarum (HP:0012188)
Associated disease: HYPEREMESIS GRAVIDARUM, SUSCEPTIBILITY TO (OMIM:620730)
Gene: TECR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Gene: TECR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Gene: TECR
Phenotype: Narrow palate (HP:0000189)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Gene: TECR
Phenotype: Intention tremor (HP:0002080)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Gene: TECR
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Gene: TECR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Gene: MPDU1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Hypertonia (HP:0001276)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Hypertonia (HP:0001276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Seizure (HP:0001250)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Floppy infant (HP:0008947)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Erythroderma (HP:0001019)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Absence of acoustic reflex (HP:0008529)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Dry skin (HP:0000958)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Scaling skin (HP:0040189)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Scaling skin (HP:0040189)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Parietal bossing (HP:0000242)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Parietal bossing (HP:0000242)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Gene: MPDU1
Phenotype: Prominent frontal sinuses (HP:0005478)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: MPDU1
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: CDG-If; CDG1F; CDG syndrome type If; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type If; Congenital disorder of glycosylation type 1f; MPDU1-CDG (ORPHA:79323)
Gene: BAG5
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Increased circulating brain natriuretic peptide concentration (HP:0033534)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Gene: BAG5
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Axonal loss (HP:0003447)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Pes valgus (HP:0008081)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Gene: BAG3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: BAG3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: BAG3
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Gene: POLR1C
Phenotype: Microtia (HP:0008551)
Associated disease: TREACHER COLLINS SYNDROME 3 (OMIM:248390)
Gene: POLR1C
Phenotype: Microtia (HP:0008551)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1C
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
Gene: POLR1C
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1C
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1C
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
Gene: POLR1C
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1C
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
Gene: POLR1C
Phenotype: Ataxia (HP:0001251)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR1C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)