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: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.580 0.379 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.685 0.207 0.99
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.857 0.241 1.00
Delayed speech and language development
phenotype 0.100 1 1 2017 2017
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.528 0.690 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.727 0.414 1.00
Delayed speech and language development
phenotype 0.100 1 3 2014 2014
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.546 0.828 0.98
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.561 0.655 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.656 0.207 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.546 0.655 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.532 0.690 1.6E-08
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.667 0.345 1.00
Delayed speech and language development
phenotype 0.100 1 2 2015 2015
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.713 0.276 0.94
Delayed speech and language development
phenotype 0.100 1 11 2015 2015
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.514 0.793 1.9E-20
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.596 0.483 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.551 0.448 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.596 0.552 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
Delayed speech and language development
phenotype 0.100 1 1 2015 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
Delayed speech and language development
phenotype 0.100 1 2 2015 2015
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.561 0.483 1.00
Delayed speech and language development
phenotype 0.100 0 1
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.659 0.414 4.5E-04
Delayed speech and language development
phenotype 0.100 0 2
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.577 0.621 0.78
Delayed speech and language development
phenotype 0.100 0 1
Entrez Id: 23708
Gene Symbol: GSPT2
GSPT2
G1 to S phase transition 2 0.99
Delayed speech and language development
phenotype 0.100 0 1
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
G protein subunit beta 5 0.735 0.345 6.1E-08
Delayed speech and language development
phenotype 0.100 0 1