death in childhood Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Death in during childhood, defined here as between the ages of 2 and 10 years. (Human Phenotype Ontology, HP_0003819)
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23 genes associated with the death in childhood phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
FKRP fukutin related protein
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PEX5 peroxisomal biogenesis factor 5
PSAP prosaposin
RAB27A RAB27A, member RAS oncogene family
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
UBR1 ubiquitin protein ligase E3 component n-recognin 1