RAD21 (Q18031010)

https://platform.opentargets.org/evidence/ENSG00000164754/MONDO_0016033

Open Targets Platform

retrieved

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

Cornelia de Lange syndrome

13 references

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

27620904

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

25125236

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

24378232

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

27882533

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

30716475

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype

22633399

RAD21 mutations cause a human cohesinopathy

31334757

Cohesin complex-associated holoprosencephaly

30125677

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature

30158690

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

25326637

Clinical exome sequencing for genetic identification of rare Mendelian disorders

25575569

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree

3 references

31173765

A sclerocornea-associated RAD21 variant induces corneal stroma disorganization

Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities

3 references

25575569

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.

acute myeloid leukemia

3 references

25006131

Genetic alterations of the cohesin complex genes in myeloid malignancies.

chromosome

human chromosome 8

genomic assembly

1 reference

1 reference

117858174

1 reference

116845934

1 reference

117887105

1 reference

116874776

1 reference

8q24.11

1 reference

15 May 2022

38161

1 reference

15 May 2022

PBB GE RAD21 200608 s at fs.png
732 × 530; 12 KB

0 references

PBB GE RAD21 200607 s at fs.png
732 × 530; 12 KB

0 references

1 reference

38161

1 reference

38161

Drosophila melanogaster

1 reference

38161

1 reference

38161

1 reference

38161

1

1 reference

20 April 2022

superficial temporal artery

2

1 reference

20 April 2022

germinal epithelium

3

1 reference

20 April 2022

cerebellar vermis

4

1 reference

20 April 2022

subthalamic nucleus

5

1 reference

20 April 2022

trabecular bone

6

1 reference

20 April 2022

inferior ganglion of vagus nerve

7

1 reference

20 April 2022

seminal vesicula

8

1 reference

20 April 2022

superior vestibular nucleus

9

1 reference

20 April 2022

corpus callosum

10

1 reference

20 April 2022

http://identifiers.org/ncbigene/5885

exact match

1 reference

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers.org

reference URL

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata