Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 CausalMutation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.410 CausalMutation CLINVAR

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 GeneticVariation CLINVAR

Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.180 CausalMutation CLINVAR

Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.180 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 CausalMutation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 GeneticVariation CLINVAR

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.140 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.130 CausalMutation CLINVAR

Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145

2012
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151

2010
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 GeneticVariation CLINVAR

Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.110 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015