Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2147
Gene Symbol: F2
F2 		0.040 GeneticVariation disease BEFREE After adjustment for other vascular risk factors, the combination of either factor V Leiden or prothrombin G20210A and PFO was associated with a 4.7-fold (95% CI=1.4 to 16.1; P=0.008) increased risk of cerebral ischemia in young patients. 17525392 2007
Entrez Id: 2153
Gene Symbol: F5
F5 		0.040 GeneticVariation disease BEFREE After adjustment for other vascular risk factors, the combination of either factor V Leiden or prothrombin G20210A and PFO was associated with a 4.7-fold (95% CI=1.4 to 16.1; P=0.008) increased risk of cerebral ischemia in young patients. 17525392 2007
Entrez Id: 2153
Gene Symbol: F5
F5 		0.040 GeneticVariation disease BEFREE Pregnancy and factor V Leiden carriership are associated with increased risk of venous thromboembolism and the association between PFO and atrial septal aneurysm is a strong risk factor for systemic embolisation. 14966073 2004
Entrez Id: 2153
Gene Symbol: F5
F5 		0.040 Biomarker disease BEFREE Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovale. 12695749 2003
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
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		0.100 Biomarker disease HPO
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		0.100 Biomarker disease HPO
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		0.100 Biomarker disease HPO
Entrez Id: 7086
Gene Symbol: TKT
TKT 		0.100 Biomarker disease HPO
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		0.100 Biomarker disease HPO
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		0.100 Biomarker disease HPO
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		0.100 Biomarker disease HPO