Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 152330
Gene Symbol: CNTN4
CNTN4 		0.300 Biomarker disease CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
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: 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: 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: 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: 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: 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: 4036
Gene Symbol: LRP2
LRP2 		0.300 Biomarker disease CTD_human Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
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: 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: 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: 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: 4915
Gene Symbol: NTRK2
NTRK2 		0.300 Biomarker disease CTD_human A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
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: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
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: 85358
Gene Symbol: SHANK3
SHANK3 		0.300 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006