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: 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: 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: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.120 None 1.000 3 1 2007 2013
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 3 1 2006 2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
plakophilin 2 0.606 0.538 3.1E-18
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 3 1 2004 2012
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: 51132
Gene Symbol: RLIM
RLIM
ring finger protein, LIM domain interacting 0.686 0.500 0.99
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 1 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 3
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: 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: 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: 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: 84231
Gene Symbol: TRAF7
TRAF7
TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
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: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 3
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1