Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
0.010 GeneticVariation disease BEFREE Through our database of epileptic encephalopathies, we identified 120 patients with SCN1A mutations, of which 4 had magnetic resonance imaging (MRI) evidence of MCDs. 24902755 2014