TaoMedAI/RareMedData huggingface dataset:
Gene: GBA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Spasticity (HP:0001257)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Spasticity (HP:0001257)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Stillbirth (HP:0003826)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Neonatal death (HP:0003811)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Neonatal death (HP:0003811)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Dystonia (HP:0001332)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Myoclonus (HP:0001336)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Bone pain (HP:0002653)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Bone pain (HP:0002653)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Bone pain (HP:0002653)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Open mouth (HP:0000194)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Poor suck (HP:0002033)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Vomiting (HP:0002013)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Dyspnea (HP:0002094)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Rigidity (HP:0002063)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Anorexia (HP:0002039)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Apnea (HP:0002104)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Apnea (HP:0002104)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Adult onset (HP:0003581)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Visual hallucination (HP:0002367)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Headache (HP:0002315)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)