Source: ALL
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
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 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: 84294
Gene Symbol: UTP23
UTP23 		0.100 CausalMutation disease CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399 2012
Entrez Id: 51557
Gene Symbol: LGSN
LGSN 		0.010 GeneticVariation disease BEFREE The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. 26522117 2015
Entrez Id: 607
Gene Symbol: BCL9
BCL9 		0.010 GeneticVariation disease BEFREE The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. 26522117 2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		0.010 GeneticVariation disease BEFREE Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. 25899858 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.010 GeneticVariation disease BEFREE The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. 26522117 2015