Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Convulsions, Benign Familial Infantile, 4
0.010 GeneticVariation disease BEFREE The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. 22399141 2012