Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.010 PosttranslationalModification disease BEFREE This is the first report of an interstitial deletion encompassing OCRL and SMARCA1 gene in Lowe syndrome. 31376231 2019