TaoMedAI/RareMedData huggingface dataset:
Gene: CHRNA1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Abnormal cervical curvature (HP:0005905)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Prolonged miniature endplate currents (HP:0003436)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Multiple pterygia (HP:0001040)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Akinesia (HP:0002304)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Amyoplasia (HP:0003634)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Hypoplastic heart (HP:0001961)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Thin ribs (HP:0000883)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Edema (HP:0000969)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Short finger (HP:0009381)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Macrotia (HP:0000400)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA2
Phenotype: Shivering (HP:0025144)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Confusional arousal (HP:0025237)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Confusion (HP:0001289)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Somnambulism (HP:0025236)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Dystonia (HP:0001332)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA2
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Gene: CHRNA3
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Hypospadias (HP:0000047)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Stage 2 chronic kidney disease (HP:0012624)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA3
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Gene: CHRNA4
Phenotype: Confusional arousal (HP:0025237)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Somnambulism (HP:0025236)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Gene: CHRNA4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Gene: CHRNA4
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Gene: CHRNA4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Gene: CHRNA4
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Gene: CHRNA4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Gene: CHRNA4
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)