RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4579555
rs4579555
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0302592
Disease:
Cervix carcinoma 		0.010 GeneticVariation BEFREE Women with the rs2289937 C genotype (CC+CT) of rs4570 and rs4579555 genotypes and haplotype 1 (TTTCAGGCGC) were significantly associated with CC risk, while women with low frequencies of haplotype 6 (TTTTAGGCGC) also increased the risk of CC.Rad21-specific shRNA decreased cancerous cell proliferation, migration, and invasion and increased the proportion of cells in G2/M phase as well as sensitivity to radiation. 29797792 2018
dbSNP: rs4579555
rs4579555
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0007847
Disease:
Malignant tumor of cervix 		0.010 GeneticVariation BEFREE Women with the rs2289937 C genotype (CC+CT) of rs4570 and rs4579555 genotypes and haplotype 1 (TTTCAGGCGC) were significantly associated with CC risk, while women with low frequencies of haplotype 6 (TTTTAGGCGC) also increased the risk of CC.Rad21-specific shRNA decreased cancerous cell proliferation, migration, and invasion and increased the proportion of cells in G2/M phase as well as sensitivity to radiation. 29797792 2018
dbSNP: rs4579555
rs4579555
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C4048328
Disease:
cervical cancer 		0.010 GeneticVariation BEFREE Women with the rs2289937 C genotype (CC+CT) of rs4570 and rs4579555 genotypes and haplotype 1 (TTTCAGGCGC) were significantly associated with CC risk, while women with low frequencies of haplotype 6 (TTTTAGGCGC) also increased the risk of CC.Rad21-specific shRNA decreased cancerous cell proliferation, migration, and invasion and increased the proportion of cells in G2/M phase as well as sensitivity to radiation. 29797792 2018
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1853738
Disease:
Long eyelashes 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0424731
Disease:
Single transverse palmar crease 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1868571
Disease:
Highly arched eyebrow 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C4023424
Disease:
Prominent digit pad 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0025990
Disease:
Micrognathism 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0744356
Disease:
Abnormality of the genital system 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1857486
Disease:
Low-set, posteriorly rotated ears 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0431447
Disease:
Synophrys 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1843367
Disease:
Poor school performance 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C4317146
Disease:
Acid reflux 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0005745
Disease:
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0235833
Disease:
Congenital diaphragmatic hernia 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0240635
Disease:
Byzanthine arch palate 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
dbSNP: rs1563687901
rs1563687901
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		TG 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1563689416
rs1563689416
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		T 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs10098598
rs10098598
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0270496
Disease:
Schizoaffective disorder, bipolar type 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
dbSNP: rs1301282588
rs1301282588
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C1853235
Disease:
Sclerocornea 		0.010 GeneticVariation BEFREE Although this variant causes RAD21 R450C substitution at the separase cleavage site, cells from peripheral sclerocornea family members had no mitosis and ploidy defects. 31781308 2019