MCID: CHR385
MIFTS: 9

Chromosome 2q31.2 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 2q31.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2q31.2 Deletion Syndrome:

Name: Chromosome 2q31.2 Deletion Syndrome 56 12 29 13 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0060416
OMIM 56 612345
UMLS 71 C2676724

Summaries for Chromosome 2q31.2 Deletion Syndrome

MalaCards based summary : Chromosome 2q31.2 Deletion Syndrome An important gene associated with Chromosome 2q31.2 Deletion Syndrome is DEL2Q31 (Chromosome 2q31.2 Deletion Syndrome).

More information from OMIM: 612345

Related Diseases for Chromosome 2q31.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 2q31.2 Deletion Syndrome

Clinical features from OMIM:

612345

Drugs & Therapeutics for Chromosome 2q31.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2q31.2 Deletion Syndrome

Genetic Tests for Chromosome 2q31.2 Deletion Syndrome

Genetic tests related to Chromosome 2q31.2 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q31.2 Deletion Syndrome 29

Anatomical Context for Chromosome 2q31.2 Deletion Syndrome

Publications for Chromosome 2q31.2 Deletion Syndrome

Articles related to Chromosome 2q31.2 Deletion Syndrome:

# Title Authors PMID Year
1
2q31.2q32.3 deletion syndrome: report of an adult patient. 56
19248183 2009
2
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. 56
18413373 2008
3
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH. 56
17352388 2007

Variations for Chromosome 2q31.2 Deletion Syndrome

Expression for Chromosome 2q31.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q31.2 Deletion Syndrome.

Pathways for Chromosome 2q31.2 Deletion Syndrome

GO Terms for Chromosome 2q31.2 Deletion Syndrome

Sources for Chromosome 2q31.2 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....