TaoMedAI/RareMedData huggingface dataset:
Gene: PCCA
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Anemia (HP:0001903)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Organic aciduria (HP:0001992)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Short stature (HP:0004322)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Poor appetite (HP:0004396)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Pancytopenia (HP:0001876)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Lethargy (HP:0001254)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Seizure (HP:0001250)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Coma (HP:0001259)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Dystonia (HP:0001332)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Increased level of hippuric acid in urine (HP:0410066)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Tachypnea (HP:0002789)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Propionyl-CoA carboxylase deficiency (HP:0003353)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Propionyl-CoA carboxylase deficiency (HP:0003353)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Constipation (HP:0002019)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Constipation (HP:0002019)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Vomiting (HP:0002013)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Apnea (HP:0002104)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Dehydration (HP:0001944)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Anemia (HP:0001903)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Organic aciduria (HP:0001992)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Short stature (HP:0004322)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Poor appetite (HP:0004396)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCB
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Pancytopenia (HP:0001876)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCK1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts (HP:6000619)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Lethargy (HP:0001254)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Seizure (HP:0001250)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Increased hepatic echogenicity (HP:0031141)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Vomiting (HP:0002013)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Impaired gluconeogenesis (HP:0005959)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Apnea (HP:0002104)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Elevated urine fumaric acid level (HP:0034648)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Drowsiness (HP:0002329)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Renal steatosis (HP:0000799)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Cyanosis (HP:0000961)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK1
Phenotype: Ketonuria (HP:0002919)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Gene: PCK1
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Lethargy (HP:0001254)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Gene: PCK2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Gene: PCK2
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Gene: PCK2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Vomiting (HP:0002013)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Impaired gluconeogenesis (HP:0005959)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Gene: PCK2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Elevated urine fumaric acid level (HP:0034648)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Drowsiness (HP:0002329)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Gene: PCK2
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Renal steatosis (HP:0000799)
Associated disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Gene: PCK2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCK2
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: PEPCK deficiency; Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
Gene: PCNA
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Absent pubertal growth spurt (HP:0031087)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Absent pubertal growth spurt (HP:0031087)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Neoplasm (HP:0002664)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Dysphagia (HP:0002015)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Infantile onset (HP:0003593)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Cutaneous telangiectasia (HP:0034697)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Progressive (HP:0003676)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Photophobia (HP:0000613)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Photophobia (HP:0000613)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Short stature (HP:0004322)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Short stature (HP:0004322)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Joint contracture (HP:0034392)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Microcephaly (HP:0000252)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Microcephaly (HP:0000252)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)