postnatal microcephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development. (Human Phenotype Ontology, HP_0005484)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005484
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Genes

28 genes associated with the postnatal microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG1 actin gamma 1
CDKL5 cyclin-dependent kinase-like 5
CHMP1A charged multivesicular body protein 1A
COQ9 coenzyme Q9
DHFR dihydrofolate reductase
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
HSPD1 heat shock 60kDa protein 1 (chaperonin)
JAM3 junctional adhesion molecule 3
MECP2 methyl CpG binding protein 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PPT1 palmitoyl-protein thioesterase 1
PSAT1 phosphoserine aminotransferase 1
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
SCN1A sodium channel, voltage gated, type I alpha subunit
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
TBC1D20 TBC1 domain family, member 20
TMEM165 transmembrane protein 165
TRAPPC9 trafficking protein particle complex 9
UBE3A ubiquitin protein ligase E3A