SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Disease: Roberts-SC phocomelia syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.020 Biomarker disease BEFREE CdLS is caused by heterozygous mutations in NIPBL or cohesin subunits SMC1A and SMC3, and RBS is caused by homozygous mutations in ESCO2. 21637801 2011
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.020 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