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: 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
dbSNP: rs1335072648
rs1335072648
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3714756
Disease:
Intellectual Disability
0.010 GeneticVariation BEFREE Five individuals carry a <i>STAG2</i> p.Ser327Asn (c.980 G > A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. 29263825 2017
dbSNP: rs1335072648
rs1335072648
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0025362
Disease:
Mental Retardation
0.010 GeneticVariation BEFREE Five individuals carry a <i>STAG2</i> p.Ser327Asn (c.980 G > A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. 29263825 2017
dbSNP: rs16889040
rs16889040
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. 19276285 2009
dbSNP: rs16889040
rs16889040
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. 19276285 2009
dbSNP: rs2289937
rs2289937
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: rs2289937
rs2289937
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C1269955
Disease:
Tumor Cell Invasion
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: rs2289937
rs2289937
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: rs2289937
rs2289937
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: rs4570
rs4570
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
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: rs4570
rs4570
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
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: rs4570
rs4570
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1269955
Disease:
Tumor Cell Invasion
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: rs4570
rs4570
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
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: rs4579555
rs4579555
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C1269955
Disease:
Tumor Cell Invasion
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: 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: rs387907212
rs387907212
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4
C 0.800 CausalMutation CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399 2012
dbSNP: rs387907213
rs387907213
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4
G 0.800 CausalMutation CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399 2012
dbSNP: rs775266057
rs775266057
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1969653
Disease:
MUNGAN SYNDROME
T 0.800 CausalMutation CLINVAR Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. 25575569 2015
dbSNP: rs1554612093
rs1554612093
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554612096
rs1554612096
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4
CAG 0.700 CausalMutation CLINVAR
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