Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 CausalMutation disease CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 Biomarker disease GENOMICS_ENGLAND A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. 27882533 2017
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 Biomarker disease GENOMICS_ENGLAND High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. 27620904 2017
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 Biomarker disease BEFREE Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. 25899858 2015
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 Biomarker disease GENOMICS_ENGLAND RAD21 mutations cause a human cohesinopathy. 22633399 2012
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 CausalMutation disease CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399 2012
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.610 GeneticVariation disease UNIPROT RAD21 mutations cause a human cohesinopathy. 22633399 2012