neonatal onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Onset of signs or symptoms of disease within the first 28 days of life. (Human Phenotype Ontology, HP_0003623)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003623
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Genes

23 genes associated with the neonatal onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
AKR1D1 aldo-keto reductase family 1, member D1
AMACR alpha-methylacyl-CoA racemase
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
AVPR2 arginine vasopressin receptor 2
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
GDAP1 ganglioside induced differentiation associated protein 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMB2 laminin, beta 2 (laminin S)
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
NEUROG3 neurogenin 3
RYR1 ryanodine receptor 1 (skeletal)
SCN9A sodium channel, voltage gated, type IX alpha subunit
STXBP1 syntaxin binding protein 1