SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Disease: Phocomelia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031575
Disease: Phocomelia
Phocomelia 		0.010 Biomarker disease BEFREE Over 60% of CdLS patients examined have de novo mutations in either: SCC2/NIPBL, SMC1, or SMC3, whereas the causative gene in Roberts syndrome and SC Phocomelia has been identified as ESCO2. 18786550 2008