Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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