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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.170 None 1.000 0 2 2003 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.170 None 1.000 0 1 2001 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.140 None 1.000 0 15 2001 2018
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.110 None 1.000 2 1 2009 2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
SIN3 transcription regulator family member A 0.551 0.692 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 54872
Gene Symbol: PIGG
PIGG
phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
upstream binding transcription factor 0.705 0.462 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 2
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 65117
Gene Symbol: RSRC2
RSRC2
arginine and serine rich coiled-coil 2 0.769 0.308 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 2
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1