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: 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: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 3
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: 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: 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: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 2
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 4
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: 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: 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: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.615 0.731 0.98
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: 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: 26999
Gene Symbol: CYFIP2
CYFIP2
cytoplasmic FMR1 interacting protein 2 0.633 0.731 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: 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
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
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: 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: 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: 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
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: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 13
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: 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