Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 GeneticVariation disease BEFREE Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. 28216384 2017
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 GeneticVariation disease UNIPROT Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. 28216384 2017
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 Biomarker disease GENOMICS_ENGLAND Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. 28216384 2017
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 GeneticVariation disease UNIPROT Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. 26971250 2016
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 GeneticVariation disease UNIPROT Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24863970 2014
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 Biomarker disease CTD_human
Entrez Id: 5105
Gene Symbol: PCK1
PCK1 		0.610 GermlineCausalMutation disease ORPHANET
Entrez Id: 5106
Gene Symbol: PCK2
PCK2 		0.300 GermlineCausalMutation disease ORPHANET Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 2044592 1991