Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A
0.010 GeneticVariation disease BEFREE To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009.Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. 31793730 2020
Entrez Id: 84628
Gene Symbol: NTNG2
NTNG2
0.010 GeneticVariation disease BEFREE In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. 31668703 2019
Entrez Id: 9369
Gene Symbol: NRXN3
NRXN3
0.010 GeneticVariation disease BEFREE Here, we identified a neurexin-3α missense mutation in a compound heterozygous patient diagnosed with profound intellectual disability and epilepsy and systematically interrogated this mutation. 31578233 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.300 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.010 GeneticVariation disease BEFREE Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. 30181650 2018
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
0.010 GeneticVariation disease BEFREE Here, we present a 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. 29968795 2018
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
0.010 GeneticVariation disease BEFREE Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. 29961568 2018
Entrez Id: 128408
Gene Symbol: BHLHE23
BHLHE23
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 8364
Gene Symbol: H4C3
H4C3
0.300 Biomarker disease CTD_human Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. 28920961 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.010 GeneticVariation disease BEFREE We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the αII-subunit of the voltage-gated Na<sup>+</sup> channel (Na<sub>v</sub>1.2). 28709814 2017
Entrez Id: 23152
Gene Symbol: CIC
CIC
0.300 Biomarker disease CTD_human Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017
Entrez Id: 1630
Gene Symbol: DCC
DCC
0.300 Biomarker disease CTD_human Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456 2017
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 10274
Gene Symbol: STAG1
STAG1
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 7750
Gene Symbol: ZMYM2
ZMYM2
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.300 Biomarker disease CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
0.300 Biomarker disease CTD_human Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
Entrez Id: 64857
Gene Symbol: PLEKHG2
PLEKHG2
0.010 GeneticVariation disease BEFREE We identified homozygosity for Arg204Trp mutation in the Rho guanidine exchange factor (RhoGEF) PLEKHG2 gene in five patients with profound mental retardation, dystonia, postnatal microcephaly, and distinct neuroimaging pattern. 26573021 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.320 GeneticVariation disease BEFREE Deletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD). 26489495 2015
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
0.010 GeneticVariation disease BEFREE Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia. 26421989 2015