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: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 0.805 0.231
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 3 1 2011 2012
Entrez Id: 54872
Gene Symbol: PIGG
PIGG
phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 2
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 2
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 2
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 3 1 2011 2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1