TaoMedAI/RareMedData huggingface dataset:
Gene: TFG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Abnormal cranial nerve physiology (HP:0031910)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Cough (HP:0012735)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Respiratory failure (HP:0002878)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Abnormal peripheral action potential amplitude (HP:0030179)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Abnormal glucose homeostasis (HP:0011014)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Visual loss (HP:0000572)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TRDN
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
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: TRDN
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Seizure (HP:0001250)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Atrial standstill (HP:0025478)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Shock (HP:0031273)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Effort-induced polymorphic ventricular tachycardia (HP:0004758)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
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: TRDN
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: TRDN
Phenotype: Infantile onset (HP:0003593)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Vertigo (HP:0002321)
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: TRDN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Ventricular couplet (HP:0034039)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Bidirectional ventricular tachycardia (HP:0034040)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Palpitations (HP:0001962)
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: TRDN
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Childhood onset (HP:0011463)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Childhood onset (HP:0011463)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Young adult onset (HP:0011462)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Atrial fibrillation (HP:0005110)
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: TRDN
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Cardiac arrest (HP:0001695)
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: TRDN
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TRDN
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Sudden cardiac death (HP:0001645)
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: TRDN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Ventricular fibrillation (HP:0001663)
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: TRDN
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRDN
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: TRDN
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: TRDN
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
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: TRDN
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Gene: ABCA7
Phenotype: Language impairment (HP:0002463)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Confusion (HP:0001289)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Apraxia (HP:0002186)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Finger agnosia (HP:0010525)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Late onset (HP:0003584)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Aphasia (HP:0002381)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Memory impairment (HP:0002354)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Memory impairment (HP:0002354)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Hallucinations (HP:0000738)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Disinhibition (HP:0000734)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Disinhibition (HP:0000734)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Depression (HP:0000716)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Agitation (HP:0000713)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Dementia (HP:0000726)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Senile plaques (HP:0100256)
Associated disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Gene: ABCA7
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: ABCA7
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: WARS2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Expressive language delay (HP:0002474)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Severe temper tantrums (HP:0025162)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)