Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1108
Gene Symbol: CHD4
CHD4 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 57705
Gene Symbol: WDFY4
WDFY4 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.300 Biomarker disease CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 57412
Gene Symbol: AS3MT
AS3MT 		0.300 Biomarker disease CTD_human Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan. 28235556 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.300 Biomarker disease CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 54187
Gene Symbol: NANS
NANS 		0.300 Biomarker disease CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
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: 79823
Gene Symbol: CAMKMT
CAMKMT 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP 		0.300 Biomarker disease CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.300 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.300 Biomarker disease CTD_human De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
Entrez Id: 1813
Gene Symbol: DRD2
DRD2 		0.300 Biomarker disease CTD_human A dopamine receptor (DRD2) but not dopamine transporter (DAT1) gene polymorphism is associated with neurocognitive development of Mexican preschool children with lead exposure. 21592505 2011
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.300 Biomarker disease CTD_human Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.300 Biomarker disease CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.300 Biomarker disease CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
Entrez Id: 55738
Gene Symbol: ARFGAP1
ARFGAP1 		0.300 Biomarker disease CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.300 Biomarker disease CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 19321504 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.300 Biomarker disease CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8 		0.300 Biomarker disease CTD_human Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. 18060736 2008
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4 		0.300 Biomarker disease CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008