TaoMedAI/RareMedData huggingface dataset:
Gene: GATA6
Phenotype: Microcephaly (HP:0000252)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Colon perforation (HP:0031369)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA6
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: ATRIAL SEPTAL DEFECT 9 (OMIM:614475)
Gene: GATA6
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: ATRIAL SEPTAL DEFECT 9 (OMIM:614475)
Gene: GATA6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
Gene: GATA6
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA6
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATM
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Reduced tissue arginine:glycine amidinotransferase activity (HP:6000572)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Decreased urinary creatine level (HP:6000748)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Bone pain (HP:0002653)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Rickets (HP:0002748)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Osteomalacia (HP:0002749)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Gowers sign (HP:0003391)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Bicarbonaturia (HP:0003646)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Reduced brain creatine level by MRS (HP:0025051)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Bicarbonate-wasting renal tubular acidosis (HP:0004910)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Dehydration (HP:0001944)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Organic aciduria (HP:0001992)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Glycosuria (HP:0003076)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Glycosuria (HP:0003076)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Autism (HP:0000717)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Childhood onset (HP:0011463)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Impaired renal tubular reabsorption of phosphate (HP:0034359)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Gene: GATM
Phenotype: Growth delay (HP:0001510)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Hypokalemia (HP:0002900)
Associated disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Gene: GATM
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Abnormal urine pH (HP:0032943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GATM
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: GBA1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Avascular necrosis (HP:0010885)
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: Avascular necrosis (HP:0010885)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Microtia (HP:0008551)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Encephalopathy (HP:0001298)
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: Encephalopathy (HP:0001298)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Motor delay (HP:0001270)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Motor delay (HP:0001270)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Seizure (HP:0001250)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Seizure (HP:0001250)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Seizure (HP:0001250)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Seizure (HP:0001250)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Seizure (HP:0001250)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Ataxia (HP:0001251)
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: Ataxia (HP:0001251)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)