Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | The clinical presentation of LRRK2-associated neurodegenerative disease may be more heterogeneous than previously assumed |
Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | The NOD2 gene product is most abundant in Paneth cells in the terminal ileum, which could therefore play a critical and hitherto unrecognized role in the pathogenesis of NOD2-associated Crohn's disease |
Human | PRSS16 | 10279 | protease, serine, 16 (thymus) | Title:Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases.|Association:Not Found|Conclusion:Not Found |
Human | WT1 | 7490 | Wilms tumor 1 | This study provides further insight into the mechanisms of transcriptional regulation of the WT1 gene and WT1-associated diseases treatment |
Human | VCAM1 | 7412 | vascular cell adhesion molecule 1 | This report provides the first functional evaluation of VCAM1 promoter polymorphisms and establishes a hypothetical foundation for investigation of their role in the pathogenesis of VCAM1-associated diseases |
Human | UMOD | 7369 | uromodulin | the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion We identified a new candidate uromodulin-associated kidney disease locus on chromosome 1q41 |
Human | TSC2 | 7249 | tuberous sclerosis 2 | study provides new insights into cellular roles of TSC proteins and promotes discussion on whether separable functions of these proteins might be associated with clinical differences of TSC1- and TSC2-associated disease |
Human | TSC1 | 7248 | tuberous sclerosis 1 | study provides new insights into cellular roles of TSC proteins and promotes discussion on whether separable functions of these proteins might be associated with clinical differences of TSC1- and TSC2-associated disease |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | TGF-beta1 polymorphisms are associated with end-stage renal disease, particularly in patients with associated clinical cardiovascular disease, and could be useful as genetic markers of chronic renal disease and higher cardiovascular risk |
Human | CCL5 | 6352 | chemokine (C-C motif) ligand 5 | CCL% expression frequent in ATL and HTLV-I-infected cell lines; aberrant expression may impact pathophysiology of HTLV-I-associated diseases |
Human | PRG2 | 5553 | proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) | Compared to MBP1, which is present in eosinophils, basophils, and a human mast cell line, homologous MBP2 is present only in eosinophils and may be a useful biomarker for eosinophil-associated diseases |
Human | PRF1 | 5551 | perforin 1 (pore forming protein) | A decrease in perforin expression by cytotoxic cells could be a major factor in explaining the physiopathologic mechanisms of several alcohol-associated diseases |
Human | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | Our data demonstrate that leptin promotes platelet activation, provides a mechanistic basis for the prothrombotic effect of this hormone, and identifies a potentially novel therapeutic avenue to limit obesity-associated cardiovascular disease |
Human | NPM1 | 4869 | nucleophosmin (nucleolar phosphoprotein B23, numatrin) | These findings suggest that an NPM/MLF1 fusion is the primary molecular abnormality in t(3;5) MDS and AML with multilineage dysplasia, and that cases with NPM/MLF1 may be clinically distinct from other MDS-associated disease |
Human | NOS1 | 4842 | nitric oxide synthase 1 (neuronal) | The T/T genotype of the neuronal nitric oxide synthase C276T SNP seems to be associated wtith Alzheimer's disease in Italy population, particularly with early onset |
Human | MLF1 | 4291 | myeloid leukemia factor 1 | These findings suggest that an NPM/MLF1 fusion is the primary molecular abnormality in t(3;5) MDS and AML with multilineage dysplasia, and that cases with NPM/MLF1 may be clinically distinct from other MDS-associated disease |
Human | MAL | 4118 | mal, T-cell differentiation protein | In fibroblast-like synoviocytes of rheumatoid arthritis patients, T-cell maturation-associated protein MAL is implicated in the cross-talk between focal adhesion kinase (FAK) and myeloid differentiation factor 88 (MyD88) pathways |
Human | IL9 | 3578 | interleukin 9 | Induction of IL-9 is associated with pathogenesis of EBV-associated T-cell diseases |
Human | HLA-G | 3135 | | results suggest that the occurrence of pregnancy-associated diseases is strongly influenced by maternal sHLA-G plasma levels |
Human | GJB2 | 2706 | gap junction protein, beta 2, 26kDa | Focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases |
Human | COL11A2 | 1302 | collagen, type XI, alpha 2 | mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases |
Human | APOE | 348 | apolipoprotein E | The epsilon2 allele of the apolipoprotein E gene may have a protective effect against some aging-associated diseases and mortality in oldrer individuals |
Human | AIRE | 326 | autoimmune regulator | genetic variation in AIRE does not appear to play a role in vitiligo-associated multiple autoimmune disease |