Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
0.020 GeneticVariation disease BEFREE Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. 17667862 2007
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
0.020 GeneticVariation disease BEFREE Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. 15877279 2005