Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201186470
rs201186470
PCK1
0.700 GeneticVariation 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
dbSNP: rs201186470
rs201186470
PCK1
0.700 GeneticVariation UNIPROT Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. 26971250

2016
dbSNP: rs201186470
rs201186470
PCK1
0.700 GeneticVariation 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