RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Disease: Low-set, posteriorly rotated ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 Biomarker phenotype HPO