Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Chromosome 17p13.3 Duplication Syndrome
0.300 ChromosomalRearrangement disease ORPHANET A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation. 21195811 2011