TaoMedAI/RareMedData huggingface dataset:
Gene: AMPD2
Phenotype: Irritability (HP:0000737)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Scissor gait (HP:0012407)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Scissor gait (HP:0012407)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD3
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD3
Phenotype: Myalgia (HP:0003326)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD3
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD3
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD3
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD3
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: BIN1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Long fingers (HP:0100807)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Thin ribs (HP:0000883)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Long face (HP:0000276)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Long face (HP:0000276)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Miscarriage (HP:0005268)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Dysphonia (HP:0001618)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Gene: BIN1
Phenotype: Ptosis (HP:0000508)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: BIN1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: BIN1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: AMT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Nonketotic hyperglycinemia (HP:0008288)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: AMT
Phenotype: Respiratory failure (HP:0002878)
Associated disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Gene: ANG
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 9 (OMIM:611895)
Gene: ANG
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 9 (OMIM:611895)
Gene: ANG
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 9 (OMIM:611895)
Gene: ANG
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 9 (OMIM:611895)
Gene: ANG
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 9 (OMIM:611895)
Gene: ANG
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)