CRELD1 (cysteine rich with EGF like domains 1)

2014-11-01  

Identity

HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
AVSD2,CIRRIN
FUSION GENES

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
126323262003Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.42
180761062008Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.27
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
210801472010Novel CRELD1 gene mutations in patients with atrioventricular septal defect.8
210801472010Novel CRELD1 gene mutations in patients with atrioventricular septal defect.8
227401592012Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.6
195216712009RTN3 inducing apoptosis is modulated by an adhesion protein CRELD1.5
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.4
290547592018CRELD1 gene variants and atrioventricular septal defects in Down syndrome.4
214138752011A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.3

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)