TaoMedAI/RareMedData huggingface dataset:
Gene: PHKA2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Vomiting (HP:0002013)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Reduced hepatic phosphorylase kinase activity (HP:6000333)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Ketosis (HP:0001946)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Ketosis (HP:0001946)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Anemia (HP:0001903)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Increased body weight (HP:0004324)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Short stature (HP:0004322)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Growth delay (HP:0001510)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Growth delay (HP:0001510)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Fatigue (HP:0012378)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Fatigue (HP:0012378)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Increased sarcoplasmic glycogen (HP:0030232)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKB
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Hypotonia (HP:0001252)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)