MCID: CHR385
MIFTS: 10

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 57 12 29 13 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0060416
OMIM 57 612345
UMLS 72 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. 8
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. 8
18413373 2008
3
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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