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Aliases for DEL22Q11.2 Gene

Aliases for DEL22Q11.2 Gene

  • Chromosome 22q11.2 Deletion Syndrome, Distal 3
  • C22DELq11.2 3
  • C22DDELS 3

External Ids for DEL22Q11.2 Gene

Summaries for DEL22Q11.2 Gene

GeneCards Summary for DEL22Q11.2 Gene

DEL22Q11.2 (Chromosome 22q11.2 Deletion Syndrome, Distal) is an Uncategorized gene. Diseases associated with DEL22Q11.2 include Chromosome 22Q11.2 Deletion Syndrome, Distal and Corneal Staphyloma.

Additional gene information for DEL22Q11.2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEL22Q11.2 Gene

Genomics for DEL22Q11.2 Gene

Genomic Location for DEL22Q11.2 Gene

Chromosome:
22
Orientation:
Unknown strand

Genomic View for DEL22Q11.2 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for Regulatory Elements and RefSeq DNA sequence for DEL22Q11.2 Gene

Proteins for DEL22Q11.2 Gene

Post-translational modifications for DEL22Q11.2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DEL22Q11.2 Gene

Domains & Families for DEL22Q11.2 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for DEL22Q11.2 Gene

Function for DEL22Q11.2 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEL22Q11.2 Gene

Localization for DEL22Q11.2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for DEL22Q11.2 Gene

Pathways & Interactions for DEL22Q11.2 Gene

SuperPathways for DEL22Q11.2 Gene

No Data Available

Interacting Proteins for DEL22Q11.2 Gene

Gene Ontology (GO) - Biological Process for DEL22Q11.2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DEL22Q11.2 Gene

Drugs & Compounds for DEL22Q11.2 Gene

No Compound Related Data Available

Transcripts for DEL22Q11.2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for DEL22Q11.2 Gene

No ASD Table

No data available for mRNA/cDNA for DEL22Q11.2 Gene

Expression for DEL22Q11.2 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEL22Q11.2 Gene

Orthologs for DEL22Q11.2 Gene

No data available for Orthologs and Evolution for DEL22Q11.2 Gene

Paralogs for DEL22Q11.2 Gene

No data available for Paralogs for DEL22Q11.2 Gene

Variants for DEL22Q11.2 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Relevant External Links for DEL22Q11.2 Gene

Disorders for DEL22Q11.2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEL22Q11.2 Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
chromosome 22q11.2 deletion syndrome, distal
  • chromosome 22q11.2 deletion syndrome distal
corneal staphyloma
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DEL22Q11.2: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for DEL22Q11.2 Gene

Publications for DEL22Q11.2 Gene

  1. Ocular Findings in Children With 22q11.2 Deletion Syndrome. (PMID: 27182748) Gokturk B … Reisli I (Journal of pediatric ophthalmology and strabismus 2016) 3 60
  2. A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma. (PMID: 23834556) Tarlan B … Boduroğlu K (Ophthalmic genetics 2014) 3 60
  3. Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome. (PMID: 23106770) Karas DJ … Bassett AS (Journal of intellectual disability research : JIDR 2014) 3 60
  4. Risk factors and the evolution of psychosis in 22q11.2 deletion syndrome: a longitudinal 2-site study. (PMID: 24157393) Gothelf D … Eliez S (Journal of the American Academy of Child and Adolescent Psychiatry 2013) 3 60
  5. Chromosome 22q11 in a Xhosa schizophrenia population. (PMID: 22380913) Koen L … Mall S (South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2012) 3 60

Products for DEL22Q11.2 Gene

Sources for DEL22Q11.2 Gene

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