Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). 15857420 2005
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 12632326 2003
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 12632326 2003
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1853508
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C1853509
Disease: Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 		0.600 CausalMutation disease CLINVAR
CUI: C1853509
Disease: Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1853509
Disease: Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 		0.600 Biomarker disease CTD_human
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.310 GeneticVariation disease BEFREE Analysis of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous missense mutations in nearly 6% of this population, including mutations in isolated AVSD and AVSD associated with heterotaxy syndrome. 12632326 2003
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation disease ORPHANET Novel CRELD1 gene mutations in patients with atrioventricular septal defect. 21080147 2010
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation disease ORPHANET Molecular genetics of atrioventricular septal defects. 15096951 2004
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation disease ORPHANET Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 12632326 2003
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 Biomarker disease BEFREE Thus, we conclude that the CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients. 29054759 2018
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 GeneticVariation disease BEFREE Furthermore, CRELD1 mutations have not yet been studied in Mexican DS patients with atrioventricular septal defects (AVSD). 25524324 2015
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 GeneticVariation disease BEFREE Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. 22987595 2012
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 Biomarker disease BEFREE We ascertained a group of individuals with DS and complete atrioventricular septal defect and sequenced 2 candidate genes for CHD: CRELD1, which is associated with atrioventricular septal defect in people with or without DS, and HEY2, whose mouse ortholog (Hey2) produces septal defects when mutated. 22523272 2012
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 Biomarker disease BEFREE Of the several genes identified for CHD, CRELD1 is an important cell adhesion molecule crucial in cardiac development, which is known to cause atrioventricular septal defect in Down syndrome and also in sporadic forms of atrioventricular septal defect. 21413875 2011
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 Biomarker disease BEFREE CRELD1 gene, a novel cell adhesion molecule, is a candidate gene for AVSD. 21080147 2010
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 GeneticVariation disease BEFREE Mutation of CRELD1 increases susceptibility to AVSD but is not alone sufficient to cause the defect, indicating that AVSD is multigenic. 15096951 2004
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 Biomarker disease BEFREE CRELD1 is the first human gene to be implicated in the pathogenesis of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveling the pathogenesis of AVSD. 12632326 2003
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.180 Biomarker disease HPO
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.110 Biomarker disease BEFREE CRELD1 is the first human gene to be implicated in the pathogenesis of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveling the pathogenesis of AVSD. 12632326 2003