MCID: RD2001
MIFTS: 9

Rad21-Related Cornelia De Lange Syndrome malady

Categories: Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Rad21-Related Cornelia De Lange Syndrome

Aliases & Descriptions for Rad21-Related Cornelia De Lange Syndrome:

Name: Rad21-Related Cornelia De Lange Syndrome 24
Cornelia De Lange Syndrome 4 24 69

Classifications:



Summaries for Rad21-Related Cornelia De Lange Syndrome

MalaCards based summary : Rad21-Related Cornelia De Lange Syndrome, also known as cornelia de lange syndrome 4, is related to cornelia de lange syndrome 4 and cornelia de lange syndrome. An important gene associated with Rad21-Related Cornelia De Lange Syndrome is RAD21 (RAD21 Cohesin Complex Component).

Related Diseases for Rad21-Related Cornelia De Lange Syndrome

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 4
Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 Hdac8-Related Cornelia De Lange Syndrome
Nipbl-Related Cornelia De Lange Syndrome Rad21-Related Cornelia De Lange Syndrome
Smc1a-Related Cornelia De Lange Syndrome Smc3-Related Cornelia De Lange Syndrome

Diseases related to Rad21-Related Cornelia De Lange Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 4 12.7
2 cornelia de lange syndrome 10.2
3 trichorhinophalangeal syndrome 10.2

Symptoms & Phenotypes for Rad21-Related Cornelia De Lange Syndrome

Drugs & Therapeutics for Rad21-Related Cornelia De Lange Syndrome

Search Clinical Trials , NIH Clinical Center for Rad21-Related Cornelia De Lange Syndrome

Genetic Tests for Rad21-Related Cornelia De Lange Syndrome

Genetic tests related to Rad21-Related Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 Rad21-Related Cornelia De Lange Syndrome 24 RAD21

Anatomical Context for Rad21-Related Cornelia De Lange Syndrome

Publications for Rad21-Related Cornelia De Lange Syndrome

Variations for Rad21-Related Cornelia De Lange Syndrome

ClinVar genetic disease variations for Rad21-Related Cornelia De Lange Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAD21 NM_006265.2(RAD21): c.1127C> G (p.Pro376Arg) single nucleotide variant Pathogenic rs387907212 GRCh37 Chromosome 8, 117866518: 117866518
2 RAD21 NM_006265.2(RAD21): c.1753T> C (p.Cys585Arg) single nucleotide variant Pathogenic rs387907213 GRCh37 Chromosome 8, 117859882: 117859882
3 RAD21 NM_006265.2(RAD21): c.592_593dupAG (p.Ser198Argfs) duplication Pathogenic rs797045909 GRCh37 Chromosome 8, 117869601: 117869602
4 RAD21 NM_006265.2(RAD21): c.579dupA (p.Glu194Argfs) duplication Pathogenic rs797045908 GRCh38 Chromosome 8, 116857376: 116857376
5 RAD21 NM_006265.2(RAD21): c.56_62delTAGCGGC (p.Leu19Profs) deletion Pathogenic rs797045907 GRCh38 Chromosome 8, 116866668: 116866674

Expression for Rad21-Related Cornelia De Lange Syndrome

Search GEO for disease gene expression data for Rad21-Related Cornelia De Lange Syndrome.

Pathways for Rad21-Related Cornelia De Lange Syndrome

GO Terms for Rad21-Related Cornelia De Lange Syndrome

Sources for Rad21-Related Cornelia De Lange Syndrome

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10 dbSNP
11 DGIdb
16 ExPASy
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34 ICD10 via Orphanet
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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