severe global developmental delay Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A severe delay in the achievement of motor or mental milestones in the domains of development of a child. (Human Phenotype Ontology, HP_0011344)
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27 genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADSL adenylosuccinate lyase
ARX aristaless related homeobox
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
FIG4 FIG4 phosphoinositide 5-phosphatase
GLUL glutamate-ammonia ligase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
LIAS lipoic acid synthetase
MECP2 methyl CpG binding protein 2
NIN ninein (GSK3B interacting protein)
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PEX10 peroxisomal biogenesis factor 10
PEX16 peroxisomal biogenesis factor 16
PEX3 peroxisomal biogenesis factor 3
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
STAMBP STAM binding protein
STXBP1 syntaxin binding protein 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
ZNF335 zinc finger protein 335