Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
0.100 CausalMutation disease CLINVAR
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.020 GeneticVariation disease BEFREE ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates. 28500650 2017
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.020 Biomarker disease BEFREE ASD is among the most heritable neuropsychiatric conditions with heritability estimates higher than 80%, and while available evidence points to a complex set of genetic factors, the SHANK (also known as ProSAP) gene family has emerged as one of the most promising candidates. 28963042 2018
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.030 AlteredExpression disease BEFREE ASD symptom severity was negatively associated with levels of 4 cytokines, IL-1β, IL-8, MIP-1β, and VEGF, in females, but not in males. 29214007 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 AlteredExpression disease BEFREE ASD symptom severity was negatively associated with levels of 4 cytokines, IL-1β, IL-8, MIP-1β, and VEGF, in females, but not in males. 29214007 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.020 GeneticVariation disease BEFREE ASD-PTEN mutations display decreased stability, catalytic activity, and/or altered subcellular localization. 29373119 2018
Entrez Id: 27152
Gene Symbol: INTU
INTU
0.010 Biomarker disease BEFREE ASD participants had difficulties using the INT style when instructions were hidden but not when instructions were revealed. 29654451 2018
Entrez Id: 6289
Gene Symbol: SAA2
SAA2
0.010 Biomarker disease BEFREE ASD (N = 36) assessed at age 10 years is associated with recurrent top quartile concentrations of inflammation-related proteins during the first post-natal month (e.g., SAA odds ratio (OR); 95% confidence interval (CI): 2.5; 1.2-5.3) and IL-6 (OR; 95% CI: 2.6; 1.03-6.4)). 29884819 2018
Entrez Id: 6288
Gene Symbol: SAA1
SAA1
0.010 Biomarker disease BEFREE ASD (N = 36) assessed at age 10 years is associated with recurrent top quartile concentrations of inflammation-related proteins during the first post-natal month (e.g., SAA odds ratio (OR); 95% confidence interval (CI): 2.5; 1.2-5.3) and IL-6 (OR; 95% CI: 2.6; 1.03-6.4)). 29884819 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 Biomarker disease BEFREE ASD (N = 36) assessed at age 10 years is associated with recurrent top quartile concentrations of inflammation-related proteins during the first post-natal month (e.g., SAA odds ratio (OR); 95% confidence interval (CI): 2.5; 1.2-5.3) and IL-6 (OR; 95% CI: 2.6; 1.03-6.4)). 29884819 2018
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.010 GeneticVariation disease BEFREE ASD-associated mutations induced changes in the localization of α-actinin-4, which localized less to dendritic spines, and for SWAP-70 and SrGAP3, which localized more to dendritic spines. 30123108 2018
Entrez Id: 51742
Gene Symbol: ARID4B
ARID4B
0.010 Biomarker disease BEFREE ASD subjects were stratified into subpopulations based on shared metabolic phenotypes associated with BCAA dysregulation. 30446206 2019
Entrez Id: 847
Gene Symbol: CAT
CAT
0.010 AlteredExpression disease BEFREE ASD significantly increased the expression of anti-oxidant enzymes (GSH, SOD, and CAT) in both liver and vascular tissue, reduced blood lipid levels (TG, TC, and LDL-C), and decreased lipid deposition in the liver and atherosclerotic lesion size in ApoE<sup>-/-</sup> mice. 30999121 2019
Entrez Id: 1571
Gene Symbol: CYP2E1
CYP2E1
0.010 GeneticVariation disease BEFREE ASD DMRs at CYP2E1 and IRS2 reached genome-wide significance, replicated by pyrosequencing and correlated with expression differences in brain. 31009952 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.010 GeneticVariation disease BEFREE ASD-associated SCN2A mutations impair the encoded protein Na<sub>V</sub>1.2, a sodium channel important for action potential initiation and propagation in developing excitatory cortical neurons. 31230762 2019
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.040 GeneticVariation disease BEFREE ASD is a life-threatening electrolyte imbalance in infants resulting from mutations in CYP11B2. 31302112 2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.030 Biomarker disease BEFREE ASD samples were examined as a whole group and with respect to the previously defined IL-1ß/IL-10-based ASD subgroups (high, normal, and low groups). 31551826 2019
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.010 Biomarker disease BEFREE ASD samples were examined as a whole group and with respect to the previously defined IL-1ß/IL-10-based ASD subgroups (high, normal, and low groups). 31551826 2019
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.010 GeneticVariation disease BEFREE DRB1*1501 (DR2) and DRB1*1201 (DR5) alleles were more frequent in chronic articular than in systemic ASD, whereas DQB1*0602 (DQ1) was frequently observed in both types of ASD. 11752512 2001
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.010 GeneticVariation disease BEFREE DRB1*1501 (DR2) and DRB1*1201 (DR5) alleles were more frequent in chronic articular than in systemic ASD, whereas DQB1*0602 (DQ1) was frequently observed in both types of ASD. 11752512 2001
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.010 Biomarker disease BEFREE ACTH has beneficial effects on stuttering in ADHD and ASD patients with ESES: A retrospective study. 27645286 2017
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.020 Biomarker disease BEFREE Caspr2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice. 27698429 2016
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
0.010 Biomarker disease BEFREE Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population. 27888397 2017
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.020 Biomarker disease BEFREE Brain-derived neurotrophic factor (BDNF) in children with ASD and their parents: a 3-year follow-up. 29532458 2018
Entrez Id: 84650
Gene Symbol: EBPL
EBPL
0.010 Biomarker disease BEFREE ERP evidence of semantic processing in children with ASD. 30974225 2019