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: 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: 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: 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: 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: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
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: 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: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 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: 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: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
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: 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: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
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: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
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: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1