apnea Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. (Human Phenotype Ontology, HP_0002104)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001957
Similar Terms
Downloads & Tools

Genes

20 gene mutations causing the apnea phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADK adenosine kinase
ALPL alkaline phosphatase, liver/bone/kidney
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
DHCR7 7-dehydrocholesterol reductase
DSCAM Down syndrome cell adhesion molecule
GPHN gephyrin
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GSX2 GS homeobox 2
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MECP2 methyl CpG binding protein 2
NALCN sodium leak channel, non selective
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
PHOX2B paired-like homeobox 2b
SCN10A sodium channel, voltage gated, type X alpha subunit
SIX1 SIX homeobox 1
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
TLX3 T-cell leukemia homeobox 3