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: 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: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.100 None 1.000 0 2 2012 2012
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: 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: 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: 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: 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: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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