RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Disease: Cornelia De Lange Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼ 70% of CdLS cases. 23683030 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in genes encoding either regulators (NIPBL, HDAC8) or subunits (SMC1A, SMC3, RAD21) of the cohesin complex, are altogether found in approximately 65% of CdLS patients. 23313159 2013
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.700 Biomarker disease CLINGEN RAD21 mutations cause a human cohesinopathy. 22633399 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.700 GermlineCausalMutation disease ORPHANET RAD21 mutations cause a human cohesinopathy. 22633399 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.700 Biomarker disease CLINGEN Cohesin-dependent regulation of Runx genes. 17567667 2007
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.700 Biomarker disease CTD_human