Human | CCR2 | 729230 | chemokine (C-C motif) receptor 2 | Frequency distribution of CCR2-64I mutations in Brazilian Amazon region |
Human | TMC8 | 147138 | transmembrane channel-like 8 | study reports a novel nonsense mutation of the TMC8 gene in Brazilian patients with epidermodysplasia verruciformis |
Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease |
Human | LMBR1 | 64327 | limb development membrane protein 1 | Majority of cases occur in Brazilian population |
Human | ATG16L1 | 55054 | autophagy related 16-like 1 (S. cerevisiae) | No genotype-phenotype correlations were found among the Brazilian CD population with with ATG16L1 |
Human | TRBV3-1 | 28619 | | polymorphism in Brazilian Caucasoid and Black populations |
Human | TRBV18 | 28569 | T cell receptor beta variable 18 | polymorphisms in Brazilian Caucasoid and Black populations |
Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | The 669insA mutation in exon 4 of the BSCL2 gene was identified as the major genetic alteration leading to BSCL in a group of 22 patients from the northeastern Brazilian state of Rio Grande do Norte |
Human | ATXN10 | 25814 | ataxin 10 | Patients of Brazilian origin have a pure cerebellar atrophy |
Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | Low plasma levels of adiponectin is one of several independent predictors of glucose intolerance in a Japanese-Brazilian population |
Human | AIP | 9049 | aryl hydrocarbon receptor interacting protein | Comprehensive study of a large Brazilian FIPA kindred with an E174 frameshift (E174fs) AIP mutation to assess clinical, hormonal, and radiological features in mutation carriers |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | no correlation of VDR gene polymorphisms, as detected by Apal and Taql restriction fragments, in multiethnic Brazilian men (165 patients and 200 controls) with prostate cancer risk and parameters of disease severity was found results indicate that bone mass and breast milk calcium are significantly associated with VDR genotypes in lactating Brazilian adolescents The distribution of genetic variants of 3 VDR polymorphisms (BsmI, ApaI and FokI) and haplotypes in black and white Brazilians was studied Lack of association between vitamin D receptor genotypes and haplotypes with fat-free mass in postmenopausal Brazilian women |
Human | TPMT | 7172 | thiopurine S-methyltransferase | This study is the first analysis of TPMT mutant allele frequency in a sample of the Brazilian population polymorphisms of thiopurine methyltransferase were studied in 306 healthy Brazilians who were classed, on the basis of self-declared colour and ancestry |
Human | TP53 | 7157 | tumor protein p53 | polymorphism at codon 72 modulates the risk of lung cancer in Brazilian patients with African ethnical background p53 mutations are common among oral cavity cancers in the Brazilian population pH-sensitive molecular defect of p53 (R337H)suggests that pH-dependent p53 dysfunction is the molecular basis for cases of adrenocortical carcinoma in Brazilian children |
Human | TNF | 7124 | tumor necrosis factor | There is association between the -308 G/A and -238 G/A TNFA polymorphisms and OCD in our Brazilian sample |
Human | TGIF1 | 7050 | TGFB-induced factor homeobox 1 | A Brazilian boy with lobar holoprosencephaly has a K44N mutation in the TGIF gene |
Human | TGFBI | 7045 | transforming growth factor, beta-induced, 68kDa | first report of mutations in the TGFBI gene in a series of Brazilian patients with corneal dystrophy |
Human | TG | 7038 | thyroglobulin | analysis of the recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the TG gene in two unrelated families (one Argentinian and another Brazilian) with congenital hypothyroidism, goiter and impairment of TG synthesis |
Human | TCF7L2 | 6934 | transcription factor 7-like 2 (T-cell specific, HMG-box) | TCF7L2 rs7903146 T allele is associated with a 1.57 increased risk for type 2 diabetes in a Brazilian cohort of patients with known coronary heart disease |
Human | HNF1A | 6927 | HNF1 homeobox A | results suggested that mutations in MODY2 and MODY3 genes do not explain the majority of maturity-onset diabetes of the young (MODY) cases in Brazilian population |
Human | SPINK1 | 6690 | serine peptidase inhibitor, Kazal type 1 | The 253C allele for the SPINK1 gene was significantly more frequent in Brazilian pancreatitis patients than controls |
Human | SLC6A3 | 6531 | solute carrier family 6 (neurotransmitter transporter), member 3 | These results suggest a role for the promoter region of DAT1 gene in attention deficit hyperactivity disorder susceptibility in this Brazilian sample results suggest that the intron 8 VNTR of the SLC6A3 investigated in this study is not related to the susceptibility for OCD in a Brazilian sample |
Human | CXCL12 | 6387 | chemokine (C-X-C motif) ligand 12 | Rsults support the hypothesis that the mutation of allele SDF1-3'A could have a possible late-stage protective effect on HIV-1 disease progression in the Brazilian population SDF1-3'A allele may not be sufficient to prevent the risk of HIV-1 infection and may be unrelated to the progression of HIV-1 infection in the Brazilian population Frequency distribution of SDF1-3'A mutations in Brazilian Amazon region |
Human | PRSS1 | 5644 | protease, serine, 1 (trypsin 1) | No mutation was found in the PRSS1 gene among pancreatitis Brazilian patients |
Human | PRNP | 5621 | prion protein | Finds polymorphism at codon 129 of prion protein gene confers similar genetic susceptibility to vCJD in Brazilian populations as in European and Asian countries |