Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Prieto X-linked mental retardation syndrome
0.010 Biomarker disease BEFREE We report a three-generation pedigree with a novel ∼1 Mb deletion upstream of SOX9 and including KCNJ2 and KCNJ16, and ascertained for dominant transmission of PRS. 26663529 2016