Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100
Gene Symbol: ADA
ADA
0.340 Biomarker disease CTD_human We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism. 11354825 2001
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.330 Biomarker disease CTD_human Quantification of Bcl-2 levels showed a 34% to 51% reduction in autistic cerebellum (M +/- SD per 75 microg protein 0.29 +/- 0.08; N = 5) compared with controls (M +/- SD per 75 microg protein 0.59 +/- 0.31; N = 8, p < 0.0451). 11814262 2001
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
0.310 Biomarker disease CTD_human The mRNA levels of several genes were significantly increased in autism, including excitatory amino acid transporter 1 and glutamate receptor AMPA 1, two members of the glutamate system. 11706102 2001
Entrez Id: 2890
Gene Symbol: GRIA1
GRIA1
0.310 Biomarker disease CTD_human The mRNA levels of several genes were significantly increased in autism, including excitatory amino acid transporter 1 and glutamate receptor AMPA 1, two members of the glutamate system. 11706102 2001
Entrez Id: 4909
Gene Symbol: NTF4
NTF4
0.300 Biomarker disease CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950 2001
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.300 Biomarker disease CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950 2001
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.400 Biomarker disease CTD_human Association between a GABRB3 polymorphism and autism. 11920158 2002
Entrez Id: 2898
Gene Symbol: GRIK2
GRIK2
0.380 Biomarker disease CTD_human Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). 11920157 2002
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.310 Biomarker disease CTD_human However, these results suggest the involvement of EXT1 in the development of mental disorders, including mental retardation and autism. 12032595 2002
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
0.300 Biomarker disease CTD_human These results suggest that autism may be accompanied by an activation of the monocytic (increased IL-1RA) and Th-1-like (increased IFN-gamma) arm of the IRS. 11803234 2002
Entrez Id: 4128
Gene Symbol: MAOA
MAOA
0.500 Biomarker disease CTD_human We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males. 12919132 2003
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 Biomarker disease CTD_human Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 12669065 2003
Entrez Id: 57502
Gene Symbol: NLGN4X
NLGN4X
0.500 Biomarker disease CTD_human Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 12669065 2003
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.450 Biomarker disease CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.400 Biomarker disease CTD_human Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. 14659996 2003
Entrez Id: 26960
Gene Symbol: NBEA
NBEA
0.350 Biomarker disease CTD_human The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. 12746398 2003
Entrez Id: 57194
Gene Symbol: ATP10A
ATP10A
0.340 Biomarker disease CTD_human Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. 12851639 2003
Entrez Id: 6343
Gene Symbol: SCT
SCT
0.330 Therapeutic disease CTD_human Recent observations that the deficits in social reciprocity skills seen in young (3-4-year-old) autistic children are improved after secretin infusions suggest an additional influence on neuronal activity.We show here that i.v. administration of secretin in rats induces Fos protein expression in the neurons of the central amygdala as well as the area postrema, bed nucleus of the stria terminalis, external lateral parabrachial nucleus and supraoptic nucleus. 12732234 2003
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.320 Biomarker disease CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2003
Entrez Id: 7328
Gene Symbol: UBE2H
UBE2H
0.310 Biomarker disease CTD_human We screened the seven exons of the UBE2H gene in autistic patients using single-strand conformation analysis. 14639049 2003
Entrez Id: 2918
Gene Symbol: GRM8
GRM8
0.310 Biomarker disease CTD_human The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism. 12676915 2003
Entrez Id: 3628
Gene Symbol: INPP1
INPP1
0.300 Biomarker disease CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2003
Entrez Id: 686
Gene Symbol: BTD
BTD
0.300 Biomarker disease CTD_human Our patient is the first case of partial biotinidase deficiency associated with autism. 13680408 2003
Entrez Id: 133
Gene Symbol: ADM
ADM
0.300 Biomarker disease CTD_human The mean values of plasma total nitrite and AM levels in the autistic group were significantly higher than control values, respectively (p < 0.001, p = 0.028). 12579522 2003
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.500 Biomarker disease CTD_human Previously, we have screened autism probands for mutations in regions of the FMR1 gene downstream of the [CGG] repeat and identified an intronic variant in the FMR1 gene, IVS10 + 14C-T, which was present at a significantly higher frequency in autistic individuals compared to controls individuals. 14755444 2004