Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Infantile neuronal ceroid lipofuscinosis
0.010 GeneticVariation disease BEFREE In the present study, new PCR-OLA methods were developed for the detection of the major mutations causing infantile neuronal ceroid lipofuscinosis (INCLFin), congenital nephrotic syndrome of Finnish type (NPHS1 FinMajor and FinMinor) and medium chain acyl-CoA dehydrogenase deficiency (MCAD A985G). 11347979 2001