Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | |
Human | GPHN | 10243 | gephyrin | Infants may die from apnea or aspiration |
Human | SLC6A5 | 9152 | solute carrier family 6 (neurotransmitter transporter), member 5 | Infants may die from apnea or aspiration |
Human | TSPYL1 | 7259 | TSPY-like 1 | Apnea (central and obstructive) |
Human | CDKL5 | 6792 | cyclin-dependent kinase-like 5 | Periodic apnea while awake |
Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | |
Human | SCN2A | 6326 | sodium channel, voltage-gated, type II, alpha subunit | Apnea during seizure spells |
Human | S100B | 6285 | S100 calcium binding protein B | The difference between the evening and morning S100B levels correlated negatively with apnea/hyponea index and oxygen desaturation index and positively with basal saturation and average minimal oxygen saturation |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | Periodic apnea while awake |
Human | LIFR | 3977 | leukemia inhibitory factor receptor alpha | Death in infancy due to hyperthermia or apnea |
Human | KCNQ2 | 3785 | potassium voltage-gated channel, KQT-like subfamily, member 2 | |
Human | IL1B | 3553 | interleukin 1, beta | In neonatal infection, IL-1beta adversely affects breathing and its control by mPGES-1 activation and PGE(2) binding to brainstem EP3 receptors, resulting in increased apnea frequency and hypoxia-induced mortality |
Human | GLRB | 2743 | glycine receptor, beta | Infants may die from apnea or aspiration |
Human | GLRA1 | 2741 | glycine receptor, alpha 1 | Infants may die from apnea or aspiration |
Human | GBA | 2629 | glucosidase, beta, acid | |
Human | FBP1 | 2203 | fructose-1,6-bisphosphatase 1 | |
Human | CTSD | 1509 | cathepsin D | |
Human | CPT2 | 1376 | carnitine palmitoyltransferase 2 | |
Human | CHAT | 1103 | choline O-acetyltransferase | Sudden episodic apnea, severe, may cause death |
Human | BTD | 686 | biotinidase | |
Human | BCHE | 590 | butyrylcholinesterase | Title:Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.|Association:Not Found|Conclusion:A five-mutation screen for investigation of post-SC apnea identified BCHE gene abnormalities for 80% of a referral population. Six new BCHE mutations were identified by sequencing studies of 16 additional patients. |
Human | ALPL | 249 | alkaline phosphatase, liver/bone/kidney | |