TaoMedAI/RareMedData huggingface dataset:
Gene: SLC37A4
Phenotype: Hypoglycemic seizures (HP:0002173)
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: Bleeding with minor or no trauma (HP:0011889)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Prolonged bleeding following procedure (HP:0011890)
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: Reduced factor IX activity (HP:0011858)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Middle age onset (HP:0003596)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Hepatomegaly (HP:0002240)
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: Pancreatic fibrosis (HP:0100732)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Reduced factor XIII activity (HP:0008357)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Reduced factor XII activity (HP:0004841)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Thyroiditis (HP:0100646)
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: Neonatal onset (HP:0003623)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
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: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Hypoglycemia (HP:0001943)
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: Ketosis (HP:0001946)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Anemia (HP:0001903)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Anemia (HP:0001903)
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: Delayed eruption of permanent teeth (HP:0000696)
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: Lipemia retinalis (HP:0000660)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Carious teeth (HP:0000670)
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: Gout (HP:0001997)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Gout (HP:0001997)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Gout (HP:0001997)
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: Short stature (HP:0004322)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Short stature (HP:0004322)
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: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hyperlipidemia (HP:0003077)
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: Hyperlipidemia (HP:0003077)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Enterocolitis (HP:0004387)
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: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Periodontitis (HP:0000704)
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: Young adult onset (HP:0011462)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Narrow chest (HP:0000774)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hematuria (HP:0000790)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Nephrolithiasis (HP:0000787)
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: Hypercholesterolemia (HP:0003124)
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: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Lactic acidosis (HP:0003128)
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: Irregular menstruation (HP:0000858)
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: Hypertension (HP:0000822)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Hypertension (HP:0000822)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Hypertension (HP:0000822)
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: Hypothyroidism (HP:0000821)
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: Delayed puberty (HP:0000823)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Delayed puberty (HP:0000823)
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: Delayed puberty (HP:0000823)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Stomatitis (HP:0010280)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Reduced coagulation factor V activity (HP:0003225)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Bruising susceptibility (HP:0000978)
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: Xanthomatosis (HP:0000991)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Ulcerative colitis (HP:0100279)
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: Osteoporosis (HP:0000939)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Osteoporosis (HP:0000939)
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: Osteopenia (HP:0000938)
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)