Source: INFERRED

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: 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: 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: 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: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
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: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 2
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
sodium voltage-gated channel alpha subunit 3 0.617 0.538 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
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: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
trio Rho guanine nucleotide exchange factor 0.556 0.731 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
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: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
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: 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