Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.200 None 1.000 0 1 2002 2019
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.500 None 1.000 0 1 2014 2019
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
aldehyde dehydrogenase 1 family member A3 0.578 0.654 0.14
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.130 None 1.000 0 1 2010 2018
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.400 strong 1.000 1 1 2017 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.110 None 1.000 1 1 2015 2015
Entrez Id: 818
Gene Symbol: CAMK2G
CAMK2G
calcium/calmodulin dependent protein kinase II gamma 0.670 0.462 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
cholinergic receptor nicotinic alpha 1 subunit 0.615 0.577 2.1E-08
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.700 moderate 1.000 4 1 2012 2019
Entrez Id: 1284
Gene Symbol: COL4A2
COL4A2
collagen type IV alpha 2 chain 0.563 0.654 3.6E-15
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.140 None 0.750 0 1 2010 2017
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 6 2 2002 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 1 1 2006 2006
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 1 1 2006 2006
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
forkhead box N1 0.615 0.654 0.94
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.180 None 1.000 0 2 2010 2019
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
formin 2 0.610 0.538 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 23708
Gene Symbol: GSPT2
GSPT2
G1 to S phase transition 2 0.821 0.154 0.98
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1