death in infancy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Death within the first 24 months of life. (Human Phenotype Ontology, HP_0001522)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001522
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Genes

45 genes associated with the death in infancy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AMT aminomethyltransferase
BOLA3 bolA family member 3
CNTN1 contactin 1
COG6 component of oligomeric golgi complex 6
CRTAP cartilage associated protein
DCX doublecortin
DLL3 delta-like 3 (Drosophila)
DNM1L dynamin 1-like
DNM2 dynamin 2
DOLK dolichol kinase
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF5 growth differentiation factor 5
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLUL glutamate-ammonia ligase
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LIPA lipase A, lysosomal acid, cholesterol esterase
LTC4S leukotriene C4 synthase
MRPS22 mitochondrial ribosomal protein S22
MYO5B myosin VB
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PEX16 peroxisomal biogenesis factor 16
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX6 peroxisomal biogenesis factor 6
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSAP prosaposin
RBM8A RNA binding motif protein 8A
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SCO2 SCO2 cytochrome c oxidase assembly protein
SUOX sulfite oxidase
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUFM Tu translation elongation factor, mitochondrial
VPS33B vacuolar protein sorting 33 homolog B (yeast)