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Gene : CRELD1 Homo sapiens

Name  ? cysteine rich with EGF like domains 1 Cytological Location  3p25.3
Brief Description  cysteine rich with EGF like domains 1
Description  This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
  • synonyms:
  • uc003buh.3,
  • atrioventricular septal defect 2,
  • CRELD1,
  • AF452623,
  • OTTHUMG00000128653,
  • HGNC:14630,
  • NM_015513,
  • AVSD2,
  • AVSD2
  • identifiers:
  • 78987,
  • ENSG00000163703,
  • CRELD1

Genome feature

Region: gene ? Length: 11619  
Location: 3:9933788-9945406 Cyto location: 3p25.3

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3740 SN Ps

6 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results