Human | ZFP57 | 346171 | ZFP57 zinc finger protein | |
Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Human | HYMAI | 57061 | hydatidiform mole associated and imprinted (non-protein coding) | |
Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | Bilirubin may rise with fasting or dehydration |
Human | FXYD5 | 53827 | FXYD domain containing ion transport regulator 5 | FXYD5 is upregulated in cystic fibrosis epithelia which may exacerbate the Na(+) hyperabsorption and surface liquid dehydration observed in cystic fibrosis |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | Hyponatremic dehydration, rarely |
Human | SLC12A1 | 6557 | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 | |
Human | PLAGL1 | 5325 | pleiomorphic adenoma gene-like 1 | |
Human | PKHD1 | 5314 | polycystic kidney and hepatic disease 1 (autosomal recessive) | |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | MUT | 4594 | methylmalonyl CoA mutase | |
Human | KCNN4 | 3783 | potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 | stochastic Ca2+ permeabilization rather than Gardos-channel variation is the main determinant selecting which sickle cells dehydrate through Gardos channels in each sickling episode |
Human | KCNJ1 | 3758 | potassium inwardly-rectifying channel, subfamily J, member 1 | |
Human | IVD | 3712 | isovaleryl-CoA dehydrogenase | |
Human | CYP11B2 | 1585 | cytochrome P450, family 11, subfamily B, polypeptide 2 | |
Human | CTNS | 1497 | cystinosin, lysosomal cystine transporter | Recurrent episodes of dehydration |
Human | CLCNKB | 1188 | chloride channel, voltage-sensitive Kb | |
Human | CFTR | 1080 | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | Hyponatremic dehydration, rarely |
Human | AVPR2 | 554 | arginine vasopressin receptor 2 | Mental retardation can occur in patients with repeated episodes of dehydration |
Human | AQP2 | 359 | aquaporin 2 (collecting duct) | Mental retardation can occur in patients with repeated episodes of dehydration AQP2 mutation in NDI families and perinatal mutation testing is of direct clinical value because early diagnosis and treatment can avert the physical and mental retardation associated with repeated episodes of dehydration |
Human | NR0B1 | 190 | nuclear receptor subfamily 0, group B, member 1 | |
Human | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | |