Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 2290
Gene Symbol: FOXG1
FOXG1 		0.300 Biomarker disease CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 7528
Gene Symbol: YY1
YY1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 23152
Gene Symbol: CIC
CIC 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
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: 4763
Gene Symbol: NF1
NF1 		0.300 Biomarker disease CTD_human A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316 2011
Entrez Id: 952
Gene Symbol: CD38
CD38 		0.010 Biomarker disease BEFREE A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. 9788559 1998
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1 		0.300 Biomarker disease CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A 		0.300 Biomarker disease CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.300 Biomarker disease CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082 2008
Entrez Id: 4163
Gene Symbol: MCC
MCC 		0.300 Biomarker disease CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957 1994
Entrez Id: 324
Gene Symbol: APC
APC 		0.300 Biomarker disease CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957 1994
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		0.300 Biomarker disease CTD_human Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 19752160 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156 2003
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: 57231
Gene Symbol: SNX14
SNX14 		0.300 Biomarker disease CTD_human Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. 25848753 2015
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: 10752
Gene Symbol: CHL1
CHL1 		0.300 Biomarker disease CTD_human CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. 12812975 2003