Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | Presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death |
Human | SLC25A22 | 79751 | solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | |
Human | PSAT1 | 29968 | phosphoserine aminotransferase 1 | Lack of treatment results in early death |
Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | Early death (mean age 13 months) |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | Early-onset associated with more severe course and early death |
Human | NPC2 | 10577 | Niemann-Pick disease, type C2 | Early death from respiratory failure may occur |
Human | TSFM | 10102 | Ts translation elongation factor, mitochondrial | |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Early death occurs in affected infants (days to months after disease onset) |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Early death occurs in affected infants (days to months after disease onset) |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Early death occurs in affected infants (days to months after disease onset) |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Early death occurs in affected infants (days to months after disease onset) |
Human | TPI1 | 7167 | triosephosphate isomerase 1 | Mutations causing TPI deficiency in humans are characterized by progressive neurological dysfunction, neurodegeneration, and early death |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | Compund heterozygosity for Noonan syndrome-causing mutations in the PTPN11 gene, documenting association with early fetal death, is reported |
Human | PSAP | 5660 | prosaposin | |
Human | PLA2G4A | 5321 | phospholipase A2, group IVA (cytosolic, calcium-dependent) | These results suggest that early cell death events promoted by an overload of calcium can be prevented by the activity of cytosolic Group IVA phospholipase A(2)alpha |
Human | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha | PIK3CA amplification and Ki-67 index were strong predictors for an early tumor-associated death in ovarian cancer patients |
Human | MMP13 | 4322 | matrix metallopeptidase 13 (collagenase 3) | Together with other prognostic markers, determination of MMP-13 in ascitic fluid may help to identify patients at risk for early death and help to individualize adjuvant therapy |
Human | NR3C2 | 4306 | nuclear receptor subfamily 3, group C, member 2 | expression in mice of hMR throughout gestation resulted in early postnatal death; wen hMR expression was initiated after birth double-transgenic mice developed progressive alopecia and hair follicle cysts |
Human | MKI67 | 4288 | antigen identified by monoclonal antibody Ki-67 | Ki-67 index and PIK3CA amplification were strong predictors for an early tumor-associated death in ovarian cancer patients |
Human | LMNA | 4000 | lamin A/C | Malignant mutation in lamin A/C gene causing progressive conduction system disease and early death in limb-girdle muscular dystrophy |
Human | HSD17B4 | 3295 | hydroxysteroid (17-beta) dehydrogenase 4 | Early death, usually before age 2 years |
Human | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit | Two major clinical forms, rapidly progressive with early death and protracted with myopathy and neuropathy |
Human | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit | Two major clinical forms, rapidly progressive with early death and protracted with myopathy and neuropathy |
Human | FLT3 | 2322 | fms-related tyrosine kinase 3 | FLT3 mutations were associated with higher leukemic burdens and early deaths |
Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | Early death in patients with cloverleaf skull Early death common, often due to respiratory complications |