SETD5, SET domain containing 5, 55209

N. diseases: 161; N. variants: 22
Disease: Microdeletion syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		0.010 GeneticVariation disease BEFREE This report adds to publications describing intragenic mutations in SETD5 and supports the assertion that de novo LoF mutations in SETD5 present with an overlapping but distinct phenotype in comparison with 3p25 microdeletion syndromes. 28905509 2017