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: 9969
Gene Symbol: MED13
MED13
mediator complex subunit 13 0.711 0.538 1.00
Delayed speech and language development
phenotype 0.400 moderate 1.000 0 1 2018 2018
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 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: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.581 0.692 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
actin like 6A 0.678 0.346 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
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
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
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
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 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: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
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
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
family with sequence similarity 111 member A 0.663 0.462 2.2E-03
Delayed speech and language development
phenotype 0.100 None 0 1
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: 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: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
Delayed speech and language development
phenotype 0.100 None 0 1