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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.500 None 1.000 2 2 2001 2020
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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.500 None 0.919 0 3 2000 2019
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: 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
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: 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: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.110 None 1.000 0 1 2009 2009
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: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.410 None 1.000 0 1 2007 2007
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.430 strong 1.000 0 2 2013 2018
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.110 None 1.000 0 1 2014 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.150 None 1.000 0 2 2014 2019
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: 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: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.120 None 1.000 0 1 2012 2019
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.120 None 1.000 0 1 2010 2015
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 2
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: 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: 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: 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