progressive microcephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. (Human Phenotype Ontology, HP_0000253)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000253
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Genes

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

Symbol Name
ACO2 aconitase 2, mitochondrial
CDKL5 cyclin-dependent kinase-like 5
COG1 component of oligomeric golgi complex 1
EXOSC3 exosome component 3
FOXG1 forkhead box G1
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MPC1 mitochondrial pyruvate carrier 1
PNKP polynucleotide kinase 3'-phosphatase
PNPO pyridoxamine 5'-phosphate oxidase
PPT1 palmitoyl-protein thioesterase 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SNAP29 synaptosomal-associated protein, 29kDa
SPTAN1 spectrin, alpha, non-erythrocytic 1
STAMBP STAM binding protein
TREX1 three prime repair exonuclease 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit