Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Benefits of fetal echocardiographic surveillance in pregnancies at risk of congenital heart block: single-center study of 212 anti-Ro52-positive pregnancies. 30620419 2019
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Congenital heart block (CHB) may develop in fetuses of Ro/SSA autoantibody-positive women. 30808622 2019
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Anti-Ro52 antibody level is an important marker of fetal congenital heart block risk in anti-Ro/SSA antibody positive pregnancy. 28880700 2018
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. 29045069 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Low titer, isolated anti Ro/SSA 60 kd antibodies is correlated with positive pregnancy outcomes in women at risk of congenital heart block. 28204891 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE We traced the evolution of two anti-Ro52 autoantibodies isolated from circulating IgG1-switched B-cells from an asymptomatic mother of a child with third degree congenital heart block. 28118945 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Cardiac fibroblast transcriptome analyses support a role for interferogenic, profibrotic, and inflammatory genes in anti-SSA/Ro-associated congenital heart block. 28626076 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE While the relationship between maternal connective tissue diseases and neonatal rashes was described in the 1960s and congenital heart block in the 1970s, the "culprit" antibody reactivity to the SSA/Ro-SSB/La ribonucleoprotein complex was not identified until the 1980s. 28709760 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE We analyzed occurrence of postnatal DCM among children with high-degree congenital heart block (CHB) and mothers with anti-SSA and/or anti-SSB antibodies. 28843719 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE The small for gestational age rate is higher probably because of SLE not because anti-Ro/SS-A •Preterm delivery happens in anti-Ro/SS-A patients at the same rate as in the general population if no complications such as congenital heart block or intrauterine growth restriction occur. 28138914 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Only 2% of mothers positive for anti-SSA/Ro (Ro) antibodies have children with congenital heart block (CHB). 25994441 2015
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE The main aim of this study was to identify foetal susceptibility genes on chromosome six for Ro/SSA autoantibody-mediated congenital heart block. 24354957 2014
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Role of the urokinase plasminogen activator receptor in mediating impaired efferocytosis of anti-SSA/Ro-bound apoptotic cardiocytes: Implications in the pathogenesis of congenital heart block. 20558828 2010
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE The objective of this study was to identify putative Ro52/60-kDa Ro/SSA antigen (Ro60) epitopes associated with neonatal lupus and congenital heart block. 16356190 2006
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Ro/SSA autoantibodies directly bind cardiomyocytes, disturb calcium homeostasis, and mediate congenital heart block. 15630133 2005
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE The identified antibodies, which react specifically with the leucine zipper structure of Ro52, will be valuable in further exploration of the mechanisms operating during development of Ro52 antibody-associated congenital heart block. 14987746 2004
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE The 52-kDa SSA/Ro (Ro52) ribonucleoprotein is an antigenic target strongly associated with the autoimmune response in mothers whose children develop neonatal lupus and congenital heart block. 11069058 2000
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Although a strong clinical association exists between congenital heart block (CHB) and an immune response to SSA/Ro and SSB/La proteins, a causative role of these antibodies in the pathogenesis is just emerging. 9667364 1998
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Cardiac expression of 52beta, an alternative transcript of the congenital heart block-associated 52-kd SS-A/Ro autoantigen, is maximal during fetal development. 9125247 1997
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Anti-SS-A/Ro antibodies are commonly found in systemic autoimmune diseases such as Sjögren's syndrome and systemic lupus erythematosus, and some of these antibodies appear to be responsible for certain pathological lesions including congenital heart block in neonatal lupus. 9125110 1997
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 AlteredExpression disease BEFREE This study indicates that placental transfer of anti-Ro(SSA) or anti-La(SSB) alone to the fetus is not sufficient for the expression of congenital complete heart block. 8148276 1994
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE Two types of heart block can be recognized: Congenital heart block is associated with maternal anti-Ro/SS-A antibodies and numerous obstetric and neonatal complications. 8195531 1994
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 Biomarker disease BEFREE To date, there is a universal association of CCHB with maternal antibodies to SSA/Ro-SSB/La ribonucleoproteins, detectable by high ratio monomer:crosslinker SDS-immunoblot. 1285897 1993
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE In the sera of these three women circulating anti-SS-A (Ro) antibodies were detected, which are known to be associated with congenital heart block. 1881495 1991
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE Congenital complete heart block (CCHB) occurs in the offspring of mothers who have the HLA-A1;B8; DR3 haplotype and Ro (SS-A) autoantibodies. 2818659 1989