Property Summary

NCBI Gene PubMed Count 25
Grant Count 11
R01 Count 9
Funding $1,804,327.99
PubMed Score 374.10
PubTator Score 25.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
astrocytic glioma -1.100 0.005
osteosarcoma -1.008 0.007

Gene RIF (11)

PMID Text
25524324 Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients.
24927998 Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect.
22987595 we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals.
22740159 study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype
21413875 SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India.
21080147 CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation
21080147 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
19521671 CRELD1 could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it.
18076106 Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects
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AA Sequence

MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGG      1 - 70
GNTAWEEENLSKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLK     71 - 140
LCCPAGTFGPSCLPCPGGTERPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLV    141 - 210
CSACFGPCARCSGPEESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLG    211 - 280
CMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPE    281 - 350
SAGFFSEMTEDELVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR    351 - 420
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Text Mined References (28)

PMID Year Title
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.
24927998 2014 [Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect].
23027870 2012 Hyperactivity of the Ero1? oxidase elicits endoplasmic reticulum stress but no broad antioxidant response.
22987595 2012 Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
22740159 2012 Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.
21413875 A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.
21080147 2010 Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
19521671 2009 RTN3 inducing apoptosis is modulated by an adhesion protein CRELD1.
18076106 2008 Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.
More...