Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9969
Gene Symbol: MED13
MED13 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 29740699 2018
Entrez Id: 9969
Gene Symbol: MED13
MED13 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 29081
Gene Symbol: METTL5
METTL5 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 31564433 2019
Entrez Id: 116931
Gene Symbol: MED12L
MED12L 		0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. 31155615 2019
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3 		0.300 Biomarker phenotype GENOMICS_ENGLAND A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features. 24550763 2014
Entrez Id: 55074
Gene Symbol: OXR1
OXR1 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 GeneticVariation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
Entrez Id: 26960
Gene Symbol: NBEA
NBEA 		0.100 GeneticVariation phenotype CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351 2018
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 GeneticVariation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A 		0.100 GeneticVariation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		0.100 CausalMutation phenotype CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012