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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0454644
Disease: Delayed speech and language development
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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0454644
Disease: Delayed speech and language development
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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0454644
Disease: Delayed speech and language development
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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 2 6 2012 2015
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0454644
Disease: Delayed speech and language development
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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 4
Entrez Id: 473
Gene Symbol: RERE
RERE 		arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 9126
Gene Symbol: SMC3
SMC3 		structural maintenance of chromosomes 3 0.535 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1