Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.330 Biomarker disease MGD Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. 28352650 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.330 GeneticVariation disease BEFREE Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. 27752029 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.330 Biomarker disease BEFREE We studied NKX2-5 with respect to the presence or absence of PFO in stroke patients. 19464101 2009
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.330 GeneticVariation disease BEFREE We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect (ASD), patent foramen ovale (PFO), or hypoplastic left heart syndrome (HLHS). 12798584 2003
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.330 Biomarker disease HPO
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.210 Biomarker disease MGD Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. 22589735 2012
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.210 GeneticVariation disease BEFREE In an initial study of Australian subjects, we observed a weak association between GATA4 S377G and PFO/Stroke relative to Caucasian controls in whom ASD and PFO had been excluded (OR = 2.16; p = 0.02). 21673957 2011
Entrez Id: 4908
Gene Symbol: NTF3
NTF3 		0.200 Biomarker disease MGD LIG family receptor tyrosine kinase-associated proteins modulate growth factor signals during neural development. 19755105 2009
Entrez Id: 3491
Gene Symbol: CCN1
CCN1 		0.200 Biomarker disease MGD The matricellular protein CCN1 is essential for cardiac development. 17023674 2006
Entrez Id: 4908
Gene Symbol: NTF3
NTF3 		0.200 Biomarker disease MGD Loss of brain-derived neurotrophic factor-dependent neural crest-derived sensory neurons in neurotrophin-4 mutant mice. 10681461 2000
Entrez Id: 4908
Gene Symbol: NTF3
NTF3 		0.200 Biomarker disease MGD Absence of sensory neurons before target innervation in brain-derived neurotrophic factor-, neurotrophin 3-, and TrkC-deficient embryonic mice. 9364058 1997
Entrez Id: 4908
Gene Symbol: NTF3
NTF3 		0.200 Biomarker disease MGD Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development. 8841198 1996
Entrez Id: 4908
Gene Symbol: NTF3
NTF3 		0.200 Biomarker disease MGD Targeted mutation in the neurotrophin-3 gene results in loss of muscle sensory neurons. 7991545 1994
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.100 CausalMutation disease CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551 2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466 2011
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837 2007
Entrez Id: 29940
Gene Symbol: DSE
DSE 		0.100 Biomarker disease HPO
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7 		0.100 Biomarker disease HPO
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		0.100 Biomarker disease HPO
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		0.100 Biomarker disease HPO
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2657
Gene Symbol: GDF1
GDF1 		0.100 Biomarker disease HPO