TaoMedAI/RareMedData huggingface dataset:
Gene: G6PD
Phenotype: Fava bean-induced hemolytic anemia (HP:0004814)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Fever (HP:0001945)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Pallor (HP:0000980)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Jaundice (HP:0000952)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: SLC37A4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Xanthelasma (HP:0001114)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Xanthelasma (HP:0001114)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hyperketonemia (HP:0410175)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Motor delay (HP:0001270)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Abnormal myeloid leukocyte morphology (HP:0010974)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Proteinuria (HP:0000093)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Proteinuria (HP:0000093)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Increased hepatic echogenicity (HP:0031141)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Abnormality of von Willebrand factor (HP:0012146)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Diarrhea (HP:0002014)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Cyclically decreased total neutrophil count (HP:0040289)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Reduced factor VII activity (HP:0008169)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Reduced hepatic glucose-6-phosphate translocase activity (HP:6000201)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)