Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | |
Human | CEP290 | 80184 | centrosomal protein 290kDa | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | |
Human | AHI1 | 54806 | Abelson helper integration site 1 | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | GPHN | 10243 | gephyrin | Infants may die from apnea or aspiration |
Human | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | INFERRED, Score=800, UMLKSK CUI: C0003578 |
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 | SOD1 | 6647 | superoxide dismutase 1, soluble | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | SNRPN | 6638 | small nuclear ribonucleoprotein polypeptide N | INFERRED, Score=800, UMLKSK CUI: C0003578 |
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 | PSAP | 5660 | prosaposin | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | PRPH | 5630 | peripherin | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | NEFH | 4744 | neurofilament, heavy polypeptide | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | NDN | 4692 | necdin, melanoma antigen (MAGE) family member | INFERRED, Score=800, UMLKSK CUI: C0003578 |
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 | LEPR | 3953 | leptin receptor | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | LEP | 3952 | leptin | INFERRED, Score=800, UMLKSK CUI: C0003578 |
Human | KCNQ2 | 3785 | potassium voltage-gated channel, KQT-like subfamily, member 2 | |