Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome
0.010 GeneticVariation disease BEFREE Here we show that mutations in YRDC cause an extremely severe form of GAMOS whereas mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of the disease. 31481669 2019