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: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
Delayed speech and language development
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
Delayed speech and language development
phenotype 0.100 None 0 4
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
Delayed speech and language development
phenotype 0.100 None 0 2
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
Delayed speech and language development
phenotype 0.100 None 0 3
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
Delayed speech and language development
phenotype 0.100 None 0 2
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
Delayed speech and language development
phenotype 0.100 None 0 2
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
Delayed speech and language development
phenotype 0.100 None 1.000 2 6 2012 2015
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
Delayed speech and language development
phenotype 0.100 None 0 2
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
Delayed speech and language development
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
Delayed speech and language development
phenotype 0.100 None 0 2
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
Delayed speech and language development
phenotype 0.100 None 0 2