Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4163
Gene Symbol: MCC
MCC
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994

Entrez Id: 6343
Gene Symbol: SCT
SCT
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Therapeutic CTD_human After administration of secretin, the Autism Diagnostic Interview-Revised (ADI-R) score improved in 7 of the 12 children. 16168596

2006

Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.460 Biomarker CTD_human All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism. 18801879

2008

Entrez Id: 170572
Gene Symbol: HTR3C
HTR3C
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker CTD_human Allelic variants in HTR3C show association with autism. 19035560

2009

Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Altered gene expression and function of peripheral blood natural killer cells in children with autism. 18762240

2009

Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Altered gene expression and function of peripheral blood natural killer cells in children with autism. 18762240

2009

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256

2004

Entrez Id: 8604
Gene Symbol: SLC25A12
SLC25A12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker CTD_human An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. 18348195

2008

Entrez Id: 3676
Gene Symbol: ITGA4
ITGA4
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker CTD_human An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. 18348195

2008

Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.430 Biomarker CTD_human An Australian patient with autism was found to be heterozygous for two mutations in the gene encoding adenylosuccinate lyase (ASL), resulting in the protein mutations E80D and D87E. 15471876

2004

Entrez Id: 85458
Gene Symbol: DIXDC1
DIXDC1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker CTD_human Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls. 27752079

2018

Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker CTD_human Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. 15523497

2005

Entrez Id: 5444
Gene Symbol: PON1
PON1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker CTD_human As predicted, Caucasian-American and not Italian families display a significant association between autism and PON1 variants less active in vitro on the OP diazinon (R192), according to case-control contrasts (Q192R: chi2=6.33, 1 df, P<0.025), transmission/disequilibrium tests (Q192R: TDT chi2=5.26, 1 df, P<0.025), family-based association tests (Q192R and L55M: FBAT Z=2.291 and 2.435 respectively, P<0.025), and haplotype-based association tests (L55/R192: HBAT Z=2.430, P<0.025). 16027737

2005

Entrez Id: 27044
Gene Symbol: SND1
SND1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker CTD_human Association analysis showed significant associations in MKL2 with ASD (rs756472, P=4.31 x 10(-5)) and between SND1 and strict autism (rs1881084, P=7.76 x 10(-5)) in the Finnish and Northern Dutch populations, respectively. 20442744

2010

Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker CTD_human Association between a GABRB3 polymorphism and autism. 11920158

2002

Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker CTD_human Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios. 18579107

2008

Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker CTD_human Association between SNPs and autism was only detected for PITX1. 18053270

2007

Entrez Id: 5021
Gene Symbol: OXTR
OXTR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker CTD_human Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. 17893705

2008

Entrez Id: 3628
Gene Symbol: INPP1
INPP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686

2003

Entrez Id: 5187
Gene Symbol: PER1
PER1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker CTD_human Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis. 17264841

2007

Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. 16946189

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker CTD_human Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). 17221838

2007

Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686

2003

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 Biomarker CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686

2003

Entrez Id: 4862
Gene Symbol: NPAS2
NPAS2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker CTD_human Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis. 17264841

2007