TaoMedAI/RareMedData huggingface dataset:
Gene: GLB1
Phenotype: Macrotia (HP:0000400)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Intimal thickening in the coronary arteries (HP:0005292)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Short neck (HP:0000470)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Pes cavus (HP:0001761)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Abnormal odontoid tissue morphology (HP:3000050)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCLC
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Ataxia (HP:0001251)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Dysarthria (HP:0001260)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Elevated urinary gamma-glutamylcysteine level (HP:6000834)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Reduced erythrocyte gamma-glutamyl cysteine synthetase activity (HP:6000132)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Dyslexia (HP:0010522)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Psychosis (HP:0000709)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Late-onset spinocerebellar degeneration (HP:0006904)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Myopathy (HP:0003198)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Myopathy (HP:0003198)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Jaundice (HP:0000952)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GCLC
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GCLC
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Gene: GCLC
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Gene: GLDC
Phenotype: Encephalopathy (HP:0001298)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Lethargy (HP:0001254)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Myoclonus (HP:0001336)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Impulsivity (HP:0100710)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Hyperactivity (HP:0000752)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Irritability (HP:0000737)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Restlessness (HP:0000711)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Recurrent singultus (HP:0100247)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLDC
Phenotype: Death in infancy (HP:0001522)
Associated disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Gene: GLE1
Phenotype: Hand clenching (HP:0001188)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Paucity of anterior horn motor neurons (HP:0007277)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Paucity of anterior horn motor neurons (HP:0007277)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Inability to walk (HP:0002540)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Neonatal death (HP:0003811)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Neonatal death (HP:0003811)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Dystonia (HP:0001332)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Mutism (HP:0002300)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Abnormal anterior horn cell morphology (HP:0006802)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Short stature (HP:0004322)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)