ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
0.030 GeneticVariation disease BEFREE BAV (n = 6), CoA (n = 3), AS (n = 2), ASD (n = 1, 2.5%), and PAPVR (n = 1, 2.5%) were found in only the 45,X group. 31672476 2019
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
0.030 Biomarker disease BEFREE We performed 3,205 interventional catheterisation procedures with device release or implantation: ASD device closure (n=2,205), PDA device occlusion (n=355), VSD device closure (n=218), aortic coarctation or recoarctation stenting (n=199), pulmonary artery stenting (n=154) and pulmonary valve implantation (n=74). 27773863 2017
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
0.030 Biomarker disease BEFREE Of the 52 liveborn infants, 34 had coarctation of the aorta (65.4 %), thirteen had prenatally diagnosed additional cardiac anomalies (VSD, ASD, aortic and pulmonary stenosis, persistent left superior vena cava) and three were managed as having hypoplastic left heart syndrome. 18773387 2009