Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
0.100 Biomarker disease HPO
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
0.100 Biomarker disease HPO
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
0.100 Biomarker disease HPO
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
0.100 Biomarker disease HPO
Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
0.020 Biomarker disease BEFREE Treatment methods included bronchoscopy for cast removal (25% of SV patients, 91% of non-SV patients), chest physiotherapy (SV: 92%, non-SV: 45%), albuterol (SV: 79%, non-SV: 73%), inhaled steroids (SV: 75%, non-SV: 18%), nebulized hypertonic saline (SV: 29%, non-SV: 9%), nebulized heparin (SV: 8%, non-SV: 55%), nebulized tissue plasminogen activator (tPA; SV: 33%, non-SV: 9%), inhaled Dornase Alfa (SV: 54%, non-SV: 9%), antibiotics (SV: 46%, non-SV: 45%), systemic steroids (SV: 13%, non-SV: 45%), and lymphatic embolization (SV: 8%, non-SV: 45%). 31812839 2020
Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
0.020 Biomarker disease BEFREE We describe successful LMCA and branch recanalization via intra coronary infusion of recombinant tissue plasminogen activator and discuss management of acute coronary thrombosis in children with single ventricle physiology. 30702202 2019
Entrez Id: 1773
Gene Symbol: DNASE1
DNASE1
0.010 Biomarker disease BEFREE Treatment methods included bronchoscopy for cast removal (25% of SV patients, 91% of non-SV patients), chest physiotherapy (SV: 92%, non-SV: 45%), albuterol (SV: 79%, non-SV: 73%), inhaled steroids (SV: 75%, non-SV: 18%), nebulized hypertonic saline (SV: 29%, non-SV: 9%), nebulized heparin (SV: 8%, non-SV: 55%), nebulized tissue plasminogen activator (tPA; SV: 33%, non-SV: 9%), inhaled Dornase Alfa (SV: 54%, non-SV: 9%), antibiotics (SV: 46%, non-SV: 45%), systemic steroids (SV: 13%, non-SV: 45%), and lymphatic embolization (SV: 8%, non-SV: 45%). 31812839 2020
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.010 GeneticVariation disease BEFREE Homozygous LH2 knockout (LH2<sup>-/-</sup>) embryos failed to develop normally and died at early embryonic stage E10.5 with abnormal common ventricle in a heart, i.e., an insufficient wall, a thin ventricular wall, and loosely packed cells. 30905411 2019
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
0.010 GeneticVariation disease BEFREE The minor allele C in <i>GATA4</i>: rs17153694 T > C increased the risk of tetralogy of Fallot, whereas minor alleles in <i>TBX1</i>: rs41298006 G>A, <i>FGF10</i>: rs75629618 C>T, <i>FGF10:</i> rs10461755 G>A, <i>FGF10:</i> rs75632187 A>G, and <i>FGF10:</i> rs12518964 G > A were associated with increased risk of single ventricle. 31013439 2019
Entrez Id: 8654
Gene Symbol: PDE5A
PDE5A
0.010 Biomarker disease BEFREE Conclusions PDE5 is increased in failing SV heart disease myocardium, and pathological gene expression changes in SV heart disease serum-treated neonatal rat ventricular myocytes are abrogated by PDE5i. 30354365 2018
Entrez Id: 5992
Gene Symbol: RFX4
RFX4
0.010 GeneticVariation disease BEFREE Homozygous deletion of Rfx4 resulted in formation of a single ventricle in the forebrain, and severe dorsoventral patterning defects in the telencephalon and midbrain at embryonic day 12.5, a collection of phenotypes that resembled human holoprosencephaly. 29298325 2018
Entrez Id: 6646
Gene Symbol: SOAT1
SOAT1
0.010 GeneticVariation disease BEFREE By univariate analysis, younger age (5 vs. 284 days, P < .001), lower weight (3.2 vs. 7.5 kg, P < .001), single ventricle physiology (P = .05), longer cardiopulmonary bypass time (176 vs. 94 min, P < .001), need for delayed sternal closure (P < .001), and higher STAT category (P < .001) were associated with EAT. 29147786 2018
Entrez Id: 25959
Gene Symbol: KANK2
KANK2
0.010 GeneticVariation disease BEFREE 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated. 28770308 2017
Entrez Id: 100526737
Gene Symbol: RBM14-RBM4
RBM14-RBM4
0.010 GeneticVariation disease BEFREE 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated. 28770308 2017
Entrez Id: 27101
Gene Symbol: CACYBP
CACYBP
0.010 GeneticVariation disease BEFREE 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated. 28770308 2017
Entrez Id: 3603
Gene Symbol: IL16
IL16
0.010 Biomarker disease BEFREE Then, for each patient the following simulations were performed: (a) CF VAD to assist the left ventricle (single ventricle) + a PF VAD to assist the right ventricle (cavo-pulmonary connection) (LCF + RPF); (b) PF VAD to assist the left ventricle (single ventricle) + a CF VAD to assist the right ventricle (cavo-pulmonary connection) (RCF + LPF). 28218352 2017
Entrez Id: 94241
Gene Symbol: TP53INP1
TP53INP1
0.010 GeneticVariation disease BEFREE 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated. 28770308 2017
Entrez Id: 128229
Gene Symbol: TSACC
TSACC
0.010 GeneticVariation disease BEFREE 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated. 28770308 2017
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
0.010 GeneticVariation disease BEFREE Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD. 28727893 2017
Entrez Id: 10432
Gene Symbol: RBM14
RBM14
0.010 GeneticVariation disease BEFREE 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated. 28770308 2017
Entrez Id: 348
Gene Symbol: APOE
APOE
0.010 GeneticVariation disease BEFREE The association of APOE genotype with ND outcomes was assessed in a combined cohort of patients with single-ventricle CHD enrolled in the Single Ventricle Reconstruction and Infant Single Ventricle trials. 25282659 2014
Entrez Id: 5972
Gene Symbol: REN
REN
0.010 GeneticVariation disease BEFREE Renin-angiotensin-aldosterone system genotype may identify a high-risk subgroup of single ventricle patients who fail to fully benefit from volume-unloading surgery. 21576655 2011
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.010 GeneticVariation disease BEFREE The endothelin-1 G5665T genotype was significantly associated with transplant-free survival for the group as a whole (P = .002), with the greatest effect in children with hypoplastic left heart syndrome (n = 64, P = .0002) as opposed to patients with other types of single-ventricle anatomy (n = 101, P = .1). 18603063 2008