Identity
HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
AVSD2,CIRRIN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 78987
MIM: 607170
HGNC: 14630
Ensembl: ENSG00000288550
Variants:
dbSNP: 78987
ClinVar: 78987
TCGA: ENSG00000288550
COSMIC: CRELD1
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37947183 | 2024 | Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. | 1 |
| 37947183 | 2024 | Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. | 1 |
| 36929416 | 2023 | CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome. | 2 |
| 36929416 | 2023 | CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome. | 2 |
| 29054759 | 2018 | CRELD1 gene variants and atrioventricular septal defects in Down syndrome. | 13 |
| 29054759 | 2018 | CRELD1 gene variants and atrioventricular septal defects in Down syndrome. | 13 |
| 25524324 | 2015 | Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects. | 5 |
| 25524324 | 2015 | Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects. | 5 |
| 24927998 | 2014 | [Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect]. | 1 |
| 24927998 | 2014 | [Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect]. | 1 |
| 22740159 | 2012 | Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome. | 9 |
| 22987595 | 2012 | Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. | 7 |
| 22740159 | 2012 | Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome. | 9 |
| 22987595 | 2012 | Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. | 7 |
| 21413875 | 2011 | A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India. | 5 |
Citation
Dessen P
CRELD1 (cysteine rich with EGF like domains 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62084/creld1-(cysteine-rich-with-egf-like-domains-1)
