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: rs775266057
rs775266057
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1969653
Disease:
MUNGAN SYNDROME 		0.800 GeneticVariation UNIPROT
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: rs797045907
rs797045907
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs797045908
rs797045908
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs797045909
rs797045909
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		GCT 0.700 CausalMutation CLINVAR
dbSNP: rs863224910
rs863224910
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		G 0.700 GeneticVariation 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
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: 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: 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