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Aliases for AVSD1 Gene

Aliases for AVSD1 Gene

  • Atrioventricular Septal Defect 1 2 3
  • Ventricular Septal Defect 1 3
  • AVCD1 3
  • AVCD 3
  • AVSD 3
  • VSD1 3

External Ids for AVSD1 Gene

Previous HGNC Symbols for AVSD1 Gene

  • VSD1

Summaries for AVSD1 Gene

GeneCards Summary for AVSD1 Gene

AVSD1 (Atrioventricular Septal Defect 1) is a Genetic Locus. Diseases associated with AVSD1 include Atrioventricular Septal Defect and Ventricular Septal Defect 1.

Additional gene information for AVSD1 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 AVSD1 Gene

Genomics for AVSD1 Gene

Genomic Locations for AVSD1 Gene

Genomic Locations for AVSD1 Gene
Unknown strand

Genomic View for AVSD1 Gene

Cytogenetic band:
GeneLoc Logo Gene Density

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for AVSD1 Gene

Proteins for AVSD1 Gene

Post-translational modifications for AVSD1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for AVSD1 Gene

Domains & Families for AVSD1 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 AVSD1 Gene

Function for AVSD1 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 AVSD1 Gene

Localization for AVSD1 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 AVSD1 Gene

Pathways & Interactions for AVSD1 Gene

SuperPathways for AVSD1 Gene

No Data Available

Interacting Proteins for AVSD1 Gene

Gene Ontology (GO) - Biological Process for AVSD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for AVSD1 Gene

Drugs & Compounds for AVSD1 Gene

No Compound Related Data Available

Transcripts for AVSD1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AVSD1 Gene

No ASD Table

Relevant External Links for AVSD1 Gene

ECgene alternative splicing isoforms for

No data available for mRNA/cDNA for AVSD1 Gene

Expression for AVSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AVSD1 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 AVSD1 Gene

Orthologs for AVSD1 Gene

No data available for Orthologs and Evolution for AVSD1 Gene

Paralogs for AVSD1 Gene

No data available for Paralogs for AVSD1 Gene

Variants for AVSD1 Gene

Additional Variant Information for AVSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for AVSD1 Gene

Disorders for AVSD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AVSD1 Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
atrioventricular septal defect
  • avsd
ventricular septal defect 1
  • vsd1
- elite association - COSMIC cancer census association via MalaCards
Search AVSD1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AVSD1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for AVSD1 Gene

Publications for AVSD1 Gene

  1. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. (PMID: 9002679) Sheffield VC … Lauer RM (Human molecular genetics 1997) 2 3 58

Products for AVSD1 Gene

Sources for AVSD1 Gene

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