CRELD1 (cysteine rich with EGF like domains 1)

2014-11-01  

Identity

HGNC
CRELD1
LOCATION
3p25.3
LOCUSID
78987
ALIAS
AVSD2,CIRRIN
FUSION GENES
Show Gene Fusions

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 IDYearTitleCitations
379471832024Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.1
379471832024Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.1
369294162023CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.2
369294162023CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.2
290547592018CRELD1 gene variants and atrioventricular septal defects in Down syndrome.13
290547592018CRELD1 gene variants and atrioventricular septal defects in Down syndrome.13
255243242015Germline 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
255243242015Germline 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
249279982014[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect].1
249279982014[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect].1
227401592012Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.9
229875952012Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.7
227401592012Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.9
229875952012Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.7
214138752011A 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/gene-fusions-explorer/cancer-prone-explorer/gene-explorer/hgnc