Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9969
Gene Symbol: MED13
MED13
Delayed speech and language development
0.400 CausalMutation CLINVAR

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
Delayed speech and language development
0.100 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
Delayed speech and language development
0.100 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
Delayed speech and language development
0.100 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
Delayed speech and language development
0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018

Entrez Id: 26960
Gene Symbol: NBEA
NBEA
Delayed speech and language development
0.100 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018

Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
Delayed speech and language development
0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017

Entrez Id: 8942
Gene Symbol: KYNU
KYNU
Delayed speech and language development
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Delayed speech and language development
0.100 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017

Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Delayed speech and language development
0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017

Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
Delayed speech and language development
0.100 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017

Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
Delayed speech and language development
0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016

Entrez Id: 2257
Gene Symbol: FGF12
FGF12
Delayed speech and language development
0.100 GeneticVariation CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899

2016

Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
Delayed speech and language development
0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
Delayed speech and language development
0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016

Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
Delayed speech and language development
0.100 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Delayed speech and language development
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
Delayed speech and language development
0.100 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015

Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
Delayed speech and language development
0.100 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Delayed speech and language development
0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012

Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Delayed speech and language development
0.100 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Delayed speech and language development
0.100 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Delayed speech and language development
0.100 GeneticVariation CLINVAR

Entrez Id: 23126
Gene Symbol: POGZ
POGZ
Delayed speech and language development
0.100 GeneticVariation CLINVAR

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
Delayed speech and language development
0.100 CausalMutation CLINVAR