Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.170 GeneticVariation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.170 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.140 CausalMutation CLINVAR

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.110 GeneticVariation CLINVAR Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. 23533028

2013

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.110 GeneticVariation CLINVAR Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. 22617343

2012

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 22983
Gene Symbol: MAST1
MAST1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR

Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 GeneticVariation CLINVAR