TaoMedAI/RareMedData huggingface dataset:
Gene: GBA1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Pericardial effusion (HP:0001698)
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: Low-set ears (HP:0000369)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Increased bone mineral density (HP:0011001)
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: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Abnormal heart valve morphology (HP:0001654)
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: Mitral regurgitation (HP:0001653)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Triangular face (HP:0000325)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Premature birth (HP:0001622)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Abnormal myocardium morphology (HP:0001637)
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: Corneal opacity (HP:0007957)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Bacterial endocarditis (HP:0006689)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Hypometric horizontal saccades (HP:0007975)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Strabismus (HP:0000486)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Strabismus (HP:0000486)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Strabismus (HP:0000486)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Strabismus (HP:0000486)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Strabismus (HP:0000486)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Hydrops fetalis (HP:0001789)
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: Splenomegaly (HP:0001744)
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: Splenomegaly (HP:0001744)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Epistaxis (HP:0000421)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Esotropia (HP:0000565)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
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: Thrombocytopenia (HP:0001873)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Pancytopenia (HP:0001876)
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: Pancytopenia (HP:0001876)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBE1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Ataxia (HP:0001251)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Spasticity (HP:0001257)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Paresthesia (HP:0003401)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Middle age onset (HP:0003596)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Dementia (HP:0000726)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Edema (HP:0000969)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Ascites (HP:0001541)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: APBD; Adult polyglucosan body disease (ORPHA:206583)
Gene: GBE1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Gene: GBE1
Phenotype: Bradycardia (HP:0001662)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GBE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Gene: GCDH
Phenotype: Enlarged sylvian cistern (HP:0100952)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Open operculum (HP:0100954)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Limb dystonia (HP:0002451)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Hyperketonemia (HP:0410175)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Encephalopathy (HP:0001298)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Seizure (HP:0001250)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Seizure (HP:0001250)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Ataxia (HP:0001251)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Dysarthria (HP:0001260)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Inability to walk (HP:0002540)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)