Human | SPG38 | 100049707 | spastic paraplegia 38 (autosomal dominant, Silver syndrome) | evidence of a novel locus SPG38 for Silver syndrome (SS) suggests that genetic defects in SPG4 might lead to broad clinical features overlapped with those of Silver syndrome |
Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB |
Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects |
Human | SALL4 | 57167 | sal-like 4 (Drosophila) | Mutations and birth defects caused by thalidomide exposure |
Human | EGLN1 | 54583 | egl-9 family hypoxia-inducible factor 1 | Genetic defects are first frameshift and nonsense mutations reported in PHD2 gene and suggest that a decreased prolyl hydroxylase activity disturbing the oxygen-sensing pathway might be the cause of erythrocytosis |
Human | PRKAG2 | 51422 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | The role of the causative gene, gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase, in the regulation of the glucose metabolic pathway in muscle suggests that genetic defects in PRKAG2 may induce a cardiac glycogenosis syndrome |
Human | PDE11A | 50940 | phosphodiesterase 11A | PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected and is associated with adrenal hyperplasia and adenomas |
Human | KCNQ1OT1 | 10984 | KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) | epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects |
Human | VWF | 7450 | von Willebrand factor | delExon1-3 and 2435delC make up 37.5% of the genetic defects in Hungarian patients with VWD type 3 |
Human | TGFA | 7039 | transforming growth factor, alpha | Title:Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects.|Association:Not Found|Conclusion:Not Found |
Human | SPAST | 6683 | spastin | evidence of a novel locus SPG38 for Silver syndrome (SS) and suggests that genetic defects in SPG4 might lead to broad clinical features overlapped with those of Silver syndrome |
Human | SCN5A | 6331 | sodium channel, voltage-gated, type V, alpha subunit | Genetic defects in SCN5A most likely underlie atrial standstill |
Human | PROC | 5624 | protein C (inactivator of coagulation factors Va and VIIIa) | The protein C system is physiologically important, and genetic defects affecting the system are the most common risk factors of venous thrombosis |
Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects |
Human | MLH1 | 4292 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | This is the first report in which genetic defects leading to disruption of mismatch repair function in a human melanoma have been identified |
Human | FTL | 2512 | ferritin, light polypeptide | The genetic defects in the FTL gene are unlikely to be a common cause of typical PD, at least in a North America population |
Human | F5 | 2153 | coagulation factor V (proaccelerin, labile factor) | This review focuses on the structure, function (procoagulant and anticoagulant), regulation (activation and inactivation) of FV as well as on the genetic defects associated with mutations in the FV gene |
Human | CYP1A2 | 1544 | cytochrome P450, family 1, subfamily A, polypeptide 2 | maternal hepatic CYP1A2, by sequestering dioxin and thus altering the pharmacokinetics, protects the embryos from toxicity and birth defects |