# RAD21

> protein-coding gene in the species Homo sapiens

**Wikidata**: [Q18031010](https://www.wikidata.org/wiki/Q18031010)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/RAD21)  
**Source**: https://4ort.xyz/entity/rad21


## References

1. ensembl Release 106
2. Ensembl Release 87
3. Q20641742
4. Online Mendelian Inheritance in Man
5. HomoloGene build68
6. [Orthologous MAtrix](https://omabrowser.org/oma/vps/O60216/)
7. UniProt
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/30ad5023-6c68-42ab-b8ea-a601a134eaf6--2020-01-08T17:00:00)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30ad5023-6c68-42ab-b8ea-a601a134eaf6-2020-01-08T170000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164754/MONDO_0016033)
11. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
12. High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
13. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
14. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case
15. A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
16. A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype
17. RAD21 mutations cause a human cohesinopathy
18. Cohesin complex-associated holoprosencephaly
19. A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature
20. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
21. Clinical exome sequencing for genetic identification of rare Mendelian disorders
22. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction
23. Cohesin Subunit RAD21: from Biology to Disease
24. A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree
25. A sclerocornea-associated RAD21 variant induces corneal stroma disorganization
26. Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities
27. Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.
28. Genetic alterations of the cohesin complex genes in myeloid malignancies.
29. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069)
30. UMLS 2023
31. [Bgee](https://www.bgee.org/gene/ENSG00000164754)