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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:C564650 | null | null | GIST | 947 | null | CD34 | null | 28,133,281 | According to the guidelines, it was diagnosed as a high risk GIST based on strong positive immunostaining for CD34 and c-kit. | null | null | null |
3 | 3 | Biomarker | C1836544 | Schindler Disease, Type I | disease | Schindler disease | 4668 | NAGA | alpha-N-acetylgalactosaminidase | CTD_human | 2,243,144 | Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. | 0.601648 | <span class="disease" id="2243144-0-0-17">Schindler disease</span>: the molecular lesion in the <span class="gene" id="2243144-0-47-78">alpha-N-acetylgalactosaminidase</span> gene that causes an infantile neuroaxonal dystrophy. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D010146 | null | null | pain | 17709 | null | COX2 | null | 28,054,242 | Moreover, SFN counteracted CCI enhancement of COX2 and iNOS in injured nerves, two key enzymes implicated in inflammation and neuropathic pain. | null | null | null |
null | null | Negative | MESH:D006623 | null | null | Von Hippel-Lindau | 6390 | null | SDHB | null | 28,099,933 | Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. | null | null | null |
null | null | Negative | MESH:D000592 | null | null | oleic acid | 6720 | null | SREBP-1c | null | 28,097,097 | Methods: In order to examine the manipulation of SREBP-1c and CAV1 by miR-29a, oleic acid (OA)-treated JFH-I-infected Huh-7 cells were used. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 66021 | null | Nox2 | null | 28,074,232 | Nox2 oxidase expression and O2( ) generation were upregulated in mesenteric, but unchanged, in femoral arteries of diabetic rats. | null | null | null |
4 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 7124 | TNF | TNF | CTD_human | 8,391,952 | TNF-alpha in rheumatoid arthritis and prospects of anti-TNF therapy. | 0.50559 | TNF-alpha in <span class="disease" id="8391952-0-13-33">rheumatoid arthritis</span> and prospects of anti-<span class="gene" id="8391952-0-56-59">TNF</span> therapy. | CTD_human |
null | null | Negative | MESH:C565433 | null | null | feedforward inhibition | 171373 | null | KCC2 | null | 28,158,484 | Using serotonin transporter knockout (Sert-/-) rats, we demonstrate that high extracellular serotonin levels are associated with impaired feedforward inhibition (FFI), fewer perisomatic inhibitory synapses, a depolarized GABA reversal potential and reduced expression of KCC2 transporters in juvenile animals. | null | null | null |
1 | 0 | Therapeutic | C0002878 | Anemia, Hemolytic | disease | hemolytic anemia | 3704 | ITPA | ITPA | CTD_human | 20,547,162 | Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction. | 0.208386 | Variants in the <span class="gene" id="20547162-0-16-20">ITPA</span> gene protect against ribavirin-induced <span class="disease" id="20547162-0-60-76">hemolytic anemia</span> and decrease the need for ribavirin dose reduction. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | liver damage | 26570 | null | xCT | null | 28,081,640 | Moreover, an ascorbic acid insufficiency, induced by Akr1a ablation, further aggravated the AAP-induced liver damage in the case of the xCT deficiency, indicating that glutathione and ascorbic acid function cooperatively in protecting the liver. | null | null | null |
null | null | Negative | OMIM:217000 | null | null | myeloid differentiation factor-2 | 7099 | null | TLR4 | null | 28,193,829 | In this article, we identify myeloid differentiation factor-2 (MD-2), the coreceptor within the TLR4/MD-2 receptor complex, as the high-affinity sCD83 binding partner. | null | null | null |
null | null | Negative | MESH:D001523 | null | null | reducing disease symptoms | 12477 | null | cytotoxic T-lymphocyte-associated protein 4 | null | 28,185,879 | Development of a preclinical murine model for LS allowed testing of potential treatment, with administration of cytotoxic T-lymphocyte-associated protein 4-Ig reducing disease symptoms and immunologic disturbance, resulting in increased survival. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 3065;8841 | null | histone deacetylase 1/3 | null | 28,074,529 | We identify important epigenetic regulators, histone deacetylase 1/3 (HDAC1/HDAC3) and DNA methyltransferase 1 (DNMT1), that exhibit aberrant association with OX-40L and 4-1BBL promoters in chemoresistant ovarian cancer cells. | null | null | null |
5 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 65018 | PINK1 | PINK1 | CTD_human | 17,010,972 | Many sporadic PD patients have a defect in mitochondria respiration, and some of the genes that cause PD are mitochondrial-related (e.g., PINK1, Parkin, DJ1). | 0.397571 | Many sporadic PD patients have a defect in mitochondria respiration, and some of the genes that cause <span class="disease" id="17010972-3-102-104">PD</span> are mitochondrial-related (e.g., <span class="gene" id="17010972-3-138-143">PINK1</span>, Parkin, DJ1). | CTD_human |
1 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 6648 | SOD2 | SOD2 | CTD_human | 20,800,516 | Impaired SOD2 activity in murine hematopoietic cells affects erythroid development, resulting in anemia characterized by intra-mitochondrial iron deposition, reticulocytosis and shortened red cell life span. | 0.200275 | Impaired <span class="gene" id="20800516-2-9-13">SOD2</span> activity in murine hematopoietic cells affects erythroid development, resulting in <span class="disease" id="20800516-2-97-103">anemia</span> characterized by intra-mitochondrial iron deposition, reticulocytosis and shortened red cell life span. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | overall survival | 1593 | null | CTx | null | 28,136,788 | UNASSIGNED: 295 Background: Randomized phase III clinical trial data (S8710) supports an overall survival (OS) advantage with neo-CTx for muscle-invasive urothelial carcinoma (miUC) patients (pts) prior to cystectomy. | null | null | null |
1 | 0 | Biomarker | C0004943 | Behcet Syndrome | disease | Beh?et's disease | 5054 | SERPINE1 | PAI-1 | CTD_human | 12,074,830 | It was concluded that the observed increase of lipid, lipoproteins, lipid hydroperoxide, susceptibility of LDL to oxidation, autoantibodies against ox-LDL levels and decrease of antioxidant enzyme activities and total antioxidant status and increased secretion of endothelial derivated peptides including sICAM and PAI-1, and their interactions may indicate that there is a tendency to atherothrombotic events in patients with Beh?et's disease. | 0.205089 | It was concluded that the observed increase of lipid, lipoproteins, lipid hydroperoxide, susceptibility of LDL to oxidation, autoantibodies against ox-LDL levels and decrease of antioxidant enzyme activities and total antioxidant status and increased secretion of endothelial derivated peptides including sICAM and <span class="gene" id="12074830-13-315-320">PAI-1</span>, and their interactions may indicate that there is a tendency to atherothrombotic events in patients with <span class="disease" id="12074830-13-427-443">BehÇet's disease</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 3356 | HTR2A | HTR2A | CTD_human | 17,280,648 | The global chi(2) test for haplotype transmission revealed a significant association between HTR2A and autism. | 0.224187 | The global chi(2) test for haplotype transmission revealed a significant association between <span class="gene" id="17280648-10-93-98">HTR2A</span> and <span class="disease" id="17280648-10-103-109">autism</span>. | CTD_human |
null | null | Negative | MESH:D009203 | null | null | myocardial infarction | 25352 | null | SOD3 | null | 28,044,093 | Levels of SOD3, NO, eNOS, and MDA in the cardiac tissue were measured in myocardial infarction rats. | null | null | null |
1 | 0 | Biomarker | C0243026 | Sepsis | disease | sepsis | 133 | ADM | adrenomedullin | CTD_human | 14,766,677 | Role of cyclooxygenase in ventricular effects of adrenomedullin: is adrenomedullin a double-edged sword in sepsis? | 0.29258 | Role of cyclooxygenase in ventricular effects of <span class="gene" id="14766677-0-49-63">adrenomedullin</span>: is <span class="gene" id="14766677-0-68-82">adrenomedullin</span> a double-edged sword in <span class="disease" id="14766677-0-107-113">sepsis</span>? | CTD_human |
null | null | Negative | MESH:D020167 | null | null | CML | 177 | null | receptor for advanced glycation end products | null | 28,035,243 | ), H_E staining (for plaque morphology), vonKossa staining (for qualitative analysis of calcification), calcium content assay (for quantitative analysis of calcification), and Western blot analyses of CML, receptor for advanced glycation end products (RAGE), NADPH oxidase 4, phosphorylated p38, core-binding factor a1 (cbfa1), alkaline phosphatase (ALP) and b-actin were then performed. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | non-tumour | 11487 | null | ADAM10 | null | 28,160,627 | Among candidate proteases associated with the generation of sIL-11R, ADAM10 and the related metalloprotease ADAM17 were significantly upregulated in tumours of both gp130(F/F) mice and GC patients compared to matched non-tumour tissues. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | molecular dynamics | 2012 | null | CL-20 | null | 28,091,889 | The molecular dynamics (MD) simulation results illustrate that the molar ratios of CL-20/HMX have a direct influence on the comprehensive performance of cocrystal explosive. | null | null | null |
4 | 14 | Biomarker | C0265251 | Oto-Palato-digital syndrome type 1 | disease | OPD1 | 2316 | FLNA | FLNA | CTD_human | 15,940,695 | We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. | 0.680549 | We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an <span class="disease" id="15940695-4-103-107">OPD1</span> syndrome who carried a novel <span class="gene" id="15940695-4-137-141">FLNA</span> point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D006333 | null | null | heart failure | 24837 | null | cTnT | null | 28,193,484 | The extraction index of cTnT in three heart failure patients undergoing renal vein catheterization was 8-19%. | null | null | null |
null | null | Negative | MESH:D006712 | null | null | cystathionine-y-lyase | 15369 | null | HO-2 | null | 28,115,703 | Genetic ablation of the H<sub>2</sub>S-synthesizing enzyme cystathionine-y-lyase (CSE) normalized breathing in HO-2<sup>-/-</sup> mice. | null | null | null |
null | null | Negative | MESH:C566610 | null | null | axis | 6047 | null | RNF4 | null | 28,143,738 | These findings suggest that the UBC9/PML/RNF4 axis plays a critical role as an important SUMO pathway in cardiac fibrosis. | null | null | null |
null | null | Negative | MESH:D020159 | null | null | thymidilate synthase | 2067 | null | excision-repair cross-complementing -1 | null | 28,020,131 | UNASSIGNED: e17514 Background: This is an ongoing phase III multicenter randomized trial comparing adjuvant pharmacogenomic-driven chemotherapy, based on thymidilate synthase (TS) and excision-repair cross-complementing -1 (ERCC1) gene expression versus standard adjuvant chemotherapy in completely resected stage II-IIIA non-small cell lung cancer (EudraCT #: 2008-001764-36). | null | null | null |
null | null | Negative | MESH:D004679 | null | null | encephalomyelitis | 21803 | null | TGFb | null | 28,157,533 | More importantly, BGMME3 inhibit the reactivation of encephalomyelitis (EAE)-derived or TGFb/IL6 differentiated Th17 cells by altering their polarization toward a Th1 or Th2 phenotype. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 29560 | null | HIF-1a | null | 28,106,131 | In vitro, HIF-1a knockdown in HK2 cells subjected to hypoxia/reoxygenation (H/R) promote cell entry into S phase, correlating with in vivo data. | null | null | null |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinomas | 10468 | FST | Follistatin | CTD_human | 12,203,361 | Follistatin expression was also observed in cell lines derived from human hepatocellular carcinomas. | 0.201099 | <span class="gene" id="12203361-9-0-11">Follistatin</span> expression was also observed in cell lines derived from human <span class="disease" id="12203361-9-74-99">hepatocellular carcinomas</span>. | CTD_human |
null | null | Negative | MESH:D002471 | null | null | tumorigenicity | 217333 | null | TRIM47 | null | 28,186,994 | Moreover, TRIM47 silencing remarkably inhibited cell migration, cell invasion, and tumorigenicity in nude mice. | null | null | null |
null | null | Negative | MESH:D003677 | null | null | elastin deficiencies | 5972 | null | renin | null | 28,143,994 | The pathomechanism that links LBW and hypertension is multifactorial including delayed nephrogenesis, genetic factors, sympathetic hyperactivity, endothel dysfunction, elastin deficiencies, insulin resistance and activation of renin-angiotension system. | null | null | null |
null | null | Negative | MESH:D006130 | null | null | decreased growth | 100126340 | null | miR-944 | null | 28,178,620 | Interestingly, CADM2 overexpression showed similar effects to miR-944 knockdown in Ishikawa cells with decreased growth, cell cycle arrest at G1 phase and increased apoptosis. | null | null | null |
2 | 11 | Biomarker | C2745948 | Hyalinosis, Systemic | disease | infantile systemic hyalinosis | 118429 | ANTXR2 | capillary morphogenesis protein 2 | CTD_human | 14,508,707 | Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. | 0.604121 | Mutations in the gene encoding <span class="gene" id="14508707-0-31-64">capillary morphogenesis protein 2</span> cause <span class="disease" id="14508707-0-71-100">juvenile hyaline fibromatosis</span> and <span class="disease" id="14508707-0-105-134">infantile systemic hyalinosis</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C566031 | null | null | TG | 9370 | null | adiponectin | null | 28,105,014 | In multiple regression analysis, there were age, BMI, TG/HDL-C ratio, and adiponectin levels remained significantly associated with uric acid levels. | null | null | null |
null | null | Negative | MESH:D009362 | null | null | metastasis | 4313;4318 | null | matrix metalloproteinase-2, -9 | null | 28,015,323 | UNASSIGNED: 5098 Background: The aim of this study was to evaluate the relationship between the relapse free interval of Krukenberg tumor in patients with stomach and colon cancer and factors such as clinical characteristics, operative findings of primary cancer, and expression of matrix metalloproteinase-2, -9 known to be related to cancer metastasis. | null | null | null |
1 | 0 | Biomarker | C0019569 | Hirschsprung Disease | disease | Hirschsprung disease | 406989 | MIR206 | miR-206 | CTD_human | 25,792,468 | Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models. | 0.200275 | Down-regulation of <span class="gene" id="25792468-0-19-26">miR-206</span> is associated with <span class="disease" id="25792468-0-46-66">Hirschsprung disease</span> and suppresses cell migration and proliferation in cell models. | CTD_human |
null | null | Negative | MESH:D007029 | null | null | mouse hypothalamus | 1536 | null | gp91phox | null | 28,161,195 | CRS and ARS up-regulated mRNA levels of inflammation-related molecules (TNFa, IL-1b, IL-6 and TLR4) and oxidative stress molecules (gp91phox, iNOS and Nrf2) in the mouse hypothalamus. | null | null | null |
null | null | Negative | MESH:C562799 | null | null | FD | 12519 | null | CD80 | null | 28,040,582 | The FD spDC had lower MHC II and CD80 expressions and subsequently impaired DC-induced Th differentiation, shown as decreased cytokine productions. | null | null | null |
16 | 16 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 1956 | EGFR | EGFR | CTD_human | 21,791,641 | These mechanisms can occur independently, or in the same cancer, suggesting that the combination of both ALK and EGFR inhibitors may represent an effective therapy for these subsets of NSCLC patients. | 0.345967 | These mechanisms can occur independently, or in the same cancer, suggesting that the combination of both ALK and <span class="gene" id="21791641-10-113-117">EGFR</span> inhibitors may represent an effective therapy for these subsets of <span class="disease" id="21791641-10-185-190">NSCLC</span> patients. | CTD_human |
null | null | Negative | MESH:C538265 | null | null | attenuated astrogliosis | 16534 | null | KCa3.1 | null | 28,105,015 | Highlights: (1) Blockade of KCa3.1 in APP/PS1 transgenic mice attenuated astrogliosis and neuron loss, and an attenuation of memory deficits. | null | null | null |
null | null | Negative | MESH:D000377 | null | null | TTP | 2064 | null | Her 2 | null | 28,016,730 | First Line Chemotherapy + T Fifty-six Her 2 neu+ patients received chemotherapy as first line metastatic treatment, n=12 without H, n=44 with H. Docetaxel/Carbo (DC+T) (n=21) was the most heavily utilized chemotherapy regimen with TTP 13.5 months and minimal toxicity. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | syndromic disorders | 84131 | null | CEP78 | null | 28,005,958 | Notably, WES unveiled four new candidates for non-syndromic IRD: SEMA6B, CEP78, CEP250, SCLT1, the two latter previously associated to syndromic disorders. | null | null | null |
null | null | Negative | MESH:D001017 | null | null | coarctation of the aorta | 763 | null | cava | null | 28,197,285 | UNASSIGNED: We describe a 54-year-old male with history of type II DM, hypertension and dyslipidemia during admission for bronchopneumonia discovered to have coarctation of the aorta and a persistent left superior vena cava (PLSVC) draining into the left atrium through the left superior pulmonary vein. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 1806 | DPYD | DPD | CTD_human | 18,019,677 | The DPD mRNA level was lower and the TS mRNA level was higher in HCC than in adjacent liver. | 0.201648 | The <span class="gene" id="18019677-12-4-7">DPD</span> mRNA level was lower and the TS mRNA level was higher in <span class="disease" id="18019677-12-65-68">HCC</span> than in adjacent liver. | CTD_human |
null | null | Negative | MESH:D014897 | null | null | SMA | 6662 | null | SOX9 | null | 28,152,522 | The hS1 cells expressed a number of hallmarks for human Sertoli cells, including SOX9, WT1, GDNF, SCF, BMP4, BMP6, GATA4, and VIM, and they were negative for 3b-HSD, SMA, and VASA. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 25341 | null | osteoprotegerin | null | 28,078,844 | In this context, we assayed the activities of several inflammation and bone homeostasis mediators, such as IL-6, TNFa, PGE2, osteoprotegerin, RANK, RANKL and NFkB. | null | null | null |
1 | 0 | Biomarker | C0017661 | IGA Glomerulonephritis | disease | IgA nephropathy | 10610 | ST6GALNAC2 | ST6GALNAC2 | CTD_human | 17,480,010 | Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy. | 0.205638 | Variants of the <span class="gene" id="17480010-0-16-26">ST6GALNAC2</span> promoter influence transcriptional activity and contribute to genetic susceptibility to <span class="disease" id="17480010-0-115-130">IgA nephropathy</span>. | CTD_human |
11 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 1392 | CRH | corticotropin-releasing hormone | CTD_human | 11,440,811 | Neuropeptide Y Y1 receptor-mediated anxiolysis in the dorsocaudal lateral septum: functional antagonism of corticotropin-releasing hormone-induced anxiety. | 0.206868 | Neuropeptide Y Y1 receptor-mediated anxiolysis in the dorsocaudal lateral septum: functional antagonism of <span class="gene" id="11440811-0-107-138">corticotropin-releasing hormone</span>-induced <span class="disease" id="11440811-0-147-154">anxiety</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 57502 | NLGN4X | NLGN4 | CTD_human | 12,669,065 | Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. | 0.229509 | Mutations of the X-linked genes encoding neuroligins NLGN3 and <span class="gene" id="12669065-0-63-68">NLGN4</span> are associated with <span class="disease" id="12669065-0-89-95">autism</span>. | CTD_human |
null | null | Negative | MESH:D001008 | null | null | anxiety | 10823 | null | OR 1.11 | null | 28,188,994 | In multivariate analysis, RA was found to be independently associated with anxiety (OR 1.11 [95%CI 1.03-1.20], p=0.01). | null | null | null |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | squamous cell carcinoma | 6347 | CCL2 | CCL2 | CTD_human | 25,199,511 | Focal adhesion kinase knockdown in carcinoma-associated fibroblasts inhibits oral squamous cell carcinoma metastasis via downregulating MCP-1/CCL2 expression. | 0.204656 | Focal adhesion kinase knockdown in carcinoma-associated fibroblasts inhibits oral <span class="disease" id="25199511-0-82-105">squamous cell carcinoma</span> metastasis via downregulating <span class="gene" id="25199511-0-136-141">MCP-1</span>/<span class="gene" id="25199511-0-142-146">CCL2</span> expression. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 13866 | null | ErbB2 | null | 28,096,336 | In a mouse model of basal ErbB2 receptor tyrosine kinase 2 (ErbB2)-positive breast cancer (ErbB2<sup>KI</sup>), which exhibits aberrant b-catenin nuclear signaling, b-catenin haploinsufficiency induced aggressive tumor formation and metastasis by promoting the disruption of adherens junctions, dedifferentiation, and an epithelial to mesenchymal transition (EMT) transcriptional program. | null | null | null |
4 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 6098 | ROS1 | ROS1 | CTD_human | 22,919,003 | Identifying and targeting ROS1 gene fusions in non-small cell lung cancer. | 0.217583 | Identifying and targeting <span class="gene" id="22919003-0-26-30">ROS1</span> gene fusions in <span class="disease" id="22919003-0-47-73">non-small cell lung cancer</span>. | CTD_human |
1 | 0 | Biomarker | C0004943 | Behcet Syndrome | disease | BD | 3689 | ITGB2 | CD18 | CTD_human | 8,712,863 | Adhesion of neutrophils from patients with BD to HUVEC stimulated with tumour necrosis factor (TNF), interleukin-1 (IL-1), and lipopolysaccharide (LPS) and adhesion molecule (CD11a, CD11b, CD18 and L-selectin) expression on the patient's neutrophils and lymphocytes were determined, and the serum concentration of IL-8 was measured. | 0.200549 | Adhesion of neutrophils from patients with <span class="disease" id="8712863-4-43-45">BD</span> to HUVEC stimulated with tumour necrosis factor (TNF), interleukin-1 (IL-1), and lipopolysaccharide (LPS) and adhesion molecule (CD11a, CD11b, <span class="gene" id="8712863-4-189-193">CD18</span> and L-selectin) expression on the patient's neutrophils and lymphocytes were determined, and the serum concentration of IL-8 was measured. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 83430 | null | IL-23 | null | 28,179,433 | We propose that IL-36 signaling contributes to the pathogenesis of renal TILs through the activation of the NLRP3 inflammasome and IL-23/IL-17 axis. | null | null | null |
null | null | Negative | MESH:D065626 | null | null | NAFLD | 93759 | null | Sirt1 | null | 28,042,486 | L-leucine, an allosteric Sirt1 activator, synergizes with low doses of metformin or sildenafil on the AMPK-eNOS-Sirt1 pathway to reverse mild NAFLD in preclinical mouse models. | null | null | null |
1 | 0 | Biomarker | C0023283 | Leishmaniasis, Cutaneous | disease | cutaneous leishmaniasis | 3576 | CXCL8 | interleukin-8 | CTD_human | 20,102,417 | Evaluation of localized and systemic immune responses in cutaneous leishmaniasis caused by Leishmania tropica: interleukin-8, monocyte chemotactic protein-1 and nitric oxide are major regulatory factors. | 0.2 | Evaluation of localized and systemic immune responses in <span class="disease" id="20102417-0-57-80">cutaneous leishmaniasis</span> caused by Leishmania tropica: <span class="gene" id="20102417-0-111-124">interleukin-8</span>, monocyte chemotactic protein-1 and nitric oxide are major regulatory factors. | CTD_human |
null | null | Negative | MESH:D014135 | null | null | tracheal stenosis | 159371 | null | post | null | 28,144,465 | In order to estimate the incidence rate of post-intubation tracheal stenosis (PITS) in patients admitted to an intensive care unit (ICU), a follow-up study was planned. | null | null | null |
1 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer's disease | 590 | BCHE | butyrylcholinesterase | CTD_human | 23,022,600 | Association analysis between K and -116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population. | 0.296183 | Association analysis between K and -116A variants of <span class="gene" id="23022600-0-53-74">butyrylcholinesterase</span> and <span class="disease" id="23022600-0-79-98">Alzheimer's disease</span> in a Brazilian population. | CTD_human |
1 | 0 | Biomarker | C1956346 | Coronary Artery Disease | disease | coronary artery disease | 3162 | HMOX1 | heme oxygenase-1 | CTD_human | 12,136,229 | Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients. | 0.225505 | Microsatellite polymorphism in promoter of <span class="gene" id="12136229-0-43-59">heme oxygenase-1</span> gene is associated with susceptibility to <span class="disease" id="12136229-0-102-125">coronary artery disease</span> in type 2 diabetic patients. | CTD_human |
2 | 4 | Biomarker | C1835851 | Ichthyosis with hypotrichosis, autosomal recessive | disease | ARIH | 6768 | ST14 | matriptase | CTD_human | 18,445,049 | Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. | 0.601099 | <span class="disease" id="18445049-1-0-49">Autosomal recessive ichthyosis with hypotrichosis</span> (<span class="disease" id="18445049-1-51-55">ARIH</span>) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the <span class="gene" id="18445049-1-255-259">ST14</span> gene, which encodes serine protease <span class="gene" id="18445049-1-296-306">matriptase</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D011658 | null | null | pulmonary fibrosis | 24494 | null | IL-1b | null | 28,115,235 | Pirfenidone, a recently approved treatment for idiopathic pulmonary fibrosis (IPF), significantly counteracted bleomycin-induced pro-fibrotic genes expression, but did not exert significant effects on IL-1b and IL-6. | null | null | null |
1 | 0 | Biomarker | C0878544 | Cardiomyopathies | group | cardiomyopathy | 3565 | IL4 | interleukin-4 | CTD_human | 7,578,376 | Other important chemotherapy-related cardiac toxicities discussed include fluorouracil-induced angina and arrhythmias, interleukin-4 induced-cardiomyopathy, and cardiotoxicity associated with autologous bone marrow transplantation procedures. | 0.2 | Other important chemotherapy-related cardiac toxicities discussed include fluorouracil-induced angina and arrhythmias, <span class="gene" id="7578376-9-119-132">interleukin-4</span> induced-<span class="disease" id="7578376-9-141-155">cardiomyopathy</span>, and cardiotoxicity associated with autologous bone marrow transplantation procedures. | CTD_human |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 873 | CBR1 | carbonyl reductase 1 | CTD_human | 21,056,497 | Human carbonyl reductase 1 upregulated by hypoxia renders resistance to apoptosis in hepatocellular carcinoma cells. | 0.200549 | Human <span class="gene" id="21056497-0-6-26">carbonyl reductase 1</span> upregulated by hypoxia renders resistance to apoptosis in <span class="disease" id="21056497-0-85-109">hepatocellular carcinoma</span> cells. | CTD_human |
1 | 0 | Biomarker | C0032460 | Polycystic Ovary Syndrome | disease | PCOS | 6286 | S100P | S100P | CTD_human | 21,411,543 | Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), S100P, and claudin-4 were significantly lower in PCOS endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated. | 0.2 | Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), <span class="gene" id="21411543-11-149-154">S100P</span>, and claudin-4 were significantly lower in <span class="disease" id="21411543-11-198-202">PCOS</span> endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 246775 | null | TRAIL | null | 28,140,697 | In the present study, phosphatase and tensin homolog (PTEN) and tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) genes were loaded to zein nanoparticles (ZNPs). | null | null | null |
1 | 0 | Therapeutic | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes mellitus | 3952 | LEP | leptin | CTD_human | 15,070,752 | We document here that leptin replacement therapy in leptin-deficient adults with established morbid obesity results in profound weight loss, increased physical activity, changes in endocrine function and metabolism, including resolution of type 2 diabetes mellitus and hypogonadism, and beneficial effects on ingestive and noningestive behavior. | 0.324763 | We document here that <span class="gene" id="15070752-8-22-28">leptin</span> replacement therapy in <span class="gene" id="15070752-8-52-58">leptin</span>-deficient adults with established morbid obesity results in profound weight loss, increased physical activity, changes in endocrine function and metabolism, including resolution of <span class="disease" id="15070752-8-240-264">type 2 diabetes mellitus</span> and hypogonadism, and beneficial effects on ingestive and noningestive behavior. | CTD_human |
null | null | Negative | MESH:D050723 | null | null | fracture | 401637 | null | OR 1.73 | null | 28,136,998 | Men receiving >1 yr ADT were more likely to report osteoporosis (OR 4.29, 95% CI 2.38-7.71) or fracture (OR 1.73, 95% CI 1.04-2.89) than men not receiving ADT. | null | null | null |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 2033 | EP300 | p300 HAT | CTD_human | 23,698,071 | Selective inhibition of p300 HAT blocks cell cycle progression, induces cellular senescence, and inhibits the DNA damage response in melanoma cells. | 0.200275 | Selective inhibition of <span class="gene" id="23698071-0-24-32">p300 HAT</span> blocks cell cycle progression, induces cellular senescence, and inhibits the DNA damage response in <span class="disease" id="23698071-0-133-141">melanoma</span> cells. | CTD_human |
null | null | Negative | MESH:C537014 | null | null | Kawasaki disease | 3558 | null | IL-2 | null | 28,081,636 | While the serum concentrations of soluble IL-2 receptor can change under such pathologies, the relevance of the soluble IL-2 receptor concentration in patients with Kawasaki disease has not been specified. | null | null | null |
2 | 0 | Therapeutic | C1956346 | Coronary Artery Disease | disease | CAD | 7422 | VEGFA | VEGF165 | CTD_human | 14,668,888 | Direct myocardial administration of genes encoding VEGF165 can be an effective method of treatment in patients with chronic and advanced CAD either as a supplementary treatment or as a single therapy. | 0.23201 | Direct myocardial administration of genes encoding <span class="gene" id="14668888-12-51-58">VEGF165</span> can be an effective method of treatment in patients with chronic and advanced <span class="disease" id="14668888-12-137-140">CAD</span> either as a supplementary treatment or as a single therapy. | CTD_human |
null | null | Negative | MESH:D006973 | null | null | hypertension | 24898 | null | SLC6A3 | null | 28,055,236 | In addition, in previous reports, hypertensive rats were associated with DAT gene, but the genetic association with SLC6A3 and hypertension is still unknown. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor | 16193 | null | interleukin-6 | null | 28,052,488 | LECs expressed high levels of macrophage colony-stimulating factor (M-CSF), but not RANKL, interleukin-6 (IL-6), and tumor necrosis factor (TNF). | null | null | null |
1 | 0 | Biomarker | C0029124 | Optic Atrophy | disease | optic atrophy | 91137 | SLC25A46 | SLC25A46 | CTD_human | 26,168,012 | Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. | 0.200275 | Mutations in <span class="gene" id="26168012-0-13-21">SLC25A46</span>, encoding a UGO1-like protein, cause an <span class="disease" id="26168012-0-62-75">optic atrophy</span> spectrum disorder. | CTD_human |
null | null | Negative | MESH:D056770 | null | null | H-NS | 202299 | null | FIS | null | 28,191,853 | We compare structural, nanomechanic, and dynamic properties of hyperplectonemes bound by three highly abundant nucleoid-associated proteins (FIS, H-NS, and HU). | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 5244 | ABCB4 | Mdr2 | CTD_human | 22,022,477 | To address the role of IKK2-mediated NF-?B activation in hepatocytes in the pathogenesis of liver disease and HCC in Mdr2(-/-) mice, we generated Mdr2-deficient animals lacking IKK2 specifically in hepatocytes using the Cre-loxP system. | 0.281923 | To address the role of IKK2-mediated NF-κB activation in hepatocytes in the pathogenesis of liver disease and <span class="disease" id="22022477-4-110-113">HCC</span> in <span class="gene" id="22022477-4-117-121">Mdr2</span>(-/-) mice, we generated <span class="gene" id="22022477-4-146-150">Mdr2</span>-deficient animals lacking IKK2 specifically in hepatocytes using the Cre-loxP system. | CTD_human |
null | null | Negative | MESH:D000163 | null | null | non-acquired immunodeficiency syndrome | 10898 | null | NAR | null | 28,109,003 | We assessed non-liver-related non-acquired immunodeficiency syndrome (AIDS)-related (NLR-NAR) events and mortality in a cohort of human immunodeficiency virus (HIV)/hepatitis C virus (HCV)-coinfected patients treated with interferon (IFN) and ribavirin (RBV), between 2000 and 2008. | null | null | null |
null | null | Negative | MESH:D008569 | null | null | memory deficits | 24225 | null | BDNF | null | 28,089,578 | We also evaluated the potential ameliorating properties of the histone deacetylase (HDAC) inhibitor, sodium butyrate, on memory deficits and BDNF changes related to maternal deprivation. | null | null | null |
null | null | Negative | MESH:D020258 | null | null | neurotoxicity | 20617 | null | ASN | null | 28,126,640 | CONCLUSION: Our results suggest that both the microglia activation and supressing astrocytes play a crucial role in ASN-related dopaminergic neurotoxicity. | null | null | null |
4 | 0 | Biomarker | C0020538 | Hypertensive disease | group | high blood pressure | 3291 | HSD11B2 | 11 beta-HSD2 | CTD_human | 9,683,905 | Finally, in the placenta 11 beta-HSD2 reduces fetal exposure to maternal glucocorticoids and a decreased activity of this isozyme may result in low birth weight and increased risk of high blood pressure at adult age. | 0.442052 | Finally, in the placenta <span class="gene" id="9683905-13-25-37">11 beta-HSD2</span> reduces fetal exposure to maternal glucocorticoids and a decreased activity of this isozyme may result in low birth weight and increased risk of <span class="disease" id="9683905-13-183-202">high blood pressure</span> at adult age. | CTD_human;HPO |
null | null | Negative | MESH:D007511 | null | null | ischemic injury | 289623 | null | LIG | null | 28,169,530 | Together, intranasal delivery of Z-LIG enhanced protection against ischemic injury via Nrf2 and HSP70 signaling pathways and has prophylactic potential in the population at high risk of stroke. | null | null | null |
null | null | Negative | MESH:D003424 | null | null | CD | 15111 | null | Th2 | null | 28,125,562 | Recently, we determined that the genetic deletion of the NOD2 gene decreased the severity of Th2-mediated chronic inflammation in a mouse strain characterized by suffering CD-like spontaneous progressive ileitis (SAMP1Yit/Fc; SAMP). | null | null | null |
null | null | Negative | MESH:D020022 | null | null | genetic susceptibility | 9966 | null | TNFSF15 | null | 28,197,769 | Although our statistical power is limited due to the small sample size, these results support an idea that the genetic susceptibility of TNFSF15 to CD may be confounded, in part, by the increase of Prevotella. | null | null | null |
4 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 1636 | ACE | Angiotensin-converting enzyme | CTD_human | 10,643,899 | Angiotensin-converting enzyme genotype is associated with Alzheimer disease in the Japanese population. | 0.319446 | <span class="gene" id="10643899-0-0-29">Angiotensin-converting enzyme</span> genotype is associated with <span class="disease" id="10643899-0-58-75">Alzheimer disease</span> in the Japanese population. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24560 | null | CD200 | null | 28,164,283 | The expression of brain pro-inflammatory cytokines (i.e., tumor necrosis factor alpha, IL-1b) and CD200-CD200R1 signaling were measured by quantitative RT-PCR. | null | null | null |
null | null | Negative | OMIM:612348 | null | null | fibroblast activation protein | 13482 | null | DPP-IV | null | 28,015,305 | UNASSIGNED: 2572 Background: PT-100 is a small molecule which competitively inhibits dipeptidyl peptidase activity of fibroblast activation protein (FAP) and dipeptidyl peptidase IV (DPP-IV). | null | null | null |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | squamous cell carcinoma | 7298 | TYMS | TS | CTD_human | 16,280,240 | In 140 patients with primary squamous cell carcinoma (SCC) of the tongue, intratumoural TS expression was evaluated by immunohistochemistry. | 0.211495 | In 140 patients with primary <span class="disease" id="16280240-2-29-52">squamous cell carcinoma</span> (SCC) of the tongue, intratumoural <span class="gene" id="16280240-2-88-90">TS</span> expression was evaluated by immunohistochemistry. | CTD_human |
null | null | Negative | MESH:D013274 | null | null | GC | 90586 | null | AOC4P | null | 28,042,329 | As a result, we identified five novel plasma lncRNAs (TINCR, CCAT2, AOC4P, BANCR and LINC00857), which, when combined in the lncRNA-based Index I, outperformed the CEA-based Index II (P < 0.001) and could distinguish GC patients from healthy controls with an area under the receiver-operating curve (AUC) of 0.91 (95% confidence interval (CI): 0.88-0.95). | null | null | null |
1 | 0 | Biomarker | C0079774 | Peripheral T-Cell Lymphoma | disease | peripheral T cell lymphomas | 2534 | FYN | FYN | CTD_human | 24,413,734 | Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas. | 0.200275 | Recurrent mutations in epigenetic regulators, RHOA and <span class="gene" id="24413734-0-55-58">FYN</span> kinase in <span class="disease" id="24413734-0-69-96">peripheral T cell lymphomas</span>. | CTD_human |
1 | 0 | Biomarker | C0020452 | Hyperemia | disease | hyperemia | 3553 | IL1B | IL-1 beta | CTD_human | 8,846,404 | The hyperemia evoked by intraplantar calcitonin gene related peptide (0.038-3.8 ng) was not altered by IL-1 beta (50 pg). | 0.200275 | The <span class="disease" id="8846404-7-4-13">hyperemia</span> evoked by intraplantar calcitonin gene related peptide (0.038-3.8 ng) was not altered by <span class="gene" id="8846404-7-103-112">IL-1 beta</span> (50 pg). | CTD_human |
null | null | Negative | MESH:D030342 | null | null | MD | 2932 | null | GSK3b | null | 28,127,860 | In the effort to identify a new inhibitor lead compound, we utilized thermodynamic integration (TI)-molecular dynamics (MD) simulation and kinase assay to investigate the bindings between GSK3b kinase and five compounds that were analogous to a known inhibitor with an available crystal structure. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 104443 | null | NPFFR2 | null | 28,179,153 | We found the expression levels of NPFF and NPFFR2 were increased in the lumbar dorsal horn of animals with CFA- and carrageenan-induced inflammation and both NPFFR2 over-expressing transgenic (NPFFR2-Tg) and NPFFR2 agonist-treated mice displayed hyperalgesia. | null | null | null |
1 | 0 | Biomarker | C0024141 | Lupus Erythematosus, Systemic | disease | systemic lupus erythematosus | 5617 | PRL | prolactin | CTD_human | 14,870,917 | Neuroendocrine dopaminergic regulation of prolactin release in systemic lupus erythematosus: a possible role of lymphocyte-derived prolactin. | 0.222274 | Neuroendocrine dopaminergic regulation of <span class="gene" id="14870917-0-42-51">prolactin</span> release in <span class="disease" id="14870917-0-63-91">systemic lupus erythematosus</span>: a possible role of lymphocyte-derived <span class="gene" id="14870917-0-131-140">prolactin</span>. | CTD_human |
1 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | pulmonary fibrosis | 3479 | IGF1 | insulin-like growth factor I | CTD_human | 15,286,697 | Fatal pulmonary fibrosis associated with BCNU: the relative role of platelet-derived growth factor-B, insulin-like growth factor I, transforming growth factor-beta1 and cyclooxygenase-2. | 0.204107 | Fatal <span class="disease" id="15286697-0-6-24">pulmonary fibrosis</span> associated with BCNU: the relative role of platelet-derived growth factor-B, <span class="gene" id="15286697-0-102-130">insulin-like growth factor I</span>, transforming growth factor-beta1 and cyclooxygenase-2. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor a | 24387 | null | glial fibrillary acidic protein | null | 28,061,403 | It also significantly restored hippocampal level of reactive oxygen species (ROS), glutathione (GSH), nuclear factor (erythroid-derived 2)-like 2 (Nrf2), activity of catalase and caspase 3, nuclear factor-<kappa>B (NF-kB), toll-like receptor 4 (TLR4), tumor necrosis factor a (TNFa), interleukin-1b (IL-1b), neural cell adhesion molecule (NCAM), glial fibrillary acidic protein (GFAP), cathepsin D, and heme oxygenase 1 (HO-1). | null | null | null |
null | null | Negative | MESH:C536915 | null | null | PTC | 1385 | null | CREB | null | 28,039,715 | CONCLUSIONS: In conclusion, we successfully identified differential pathways (such as CREB phosphorylation, attachment of GPI anchor to uPAR and post-translational modification: synthesis of GPI-anchored proteins) for PTC using the proposed pathway co-expression method, and these pathways might be potential biomarkers for target therapy and detection of PTC. | null | null | null |
null | null | Negative | MESH:D016393 | null | null | B-cell lymphoma 2 | 25742 | null | S100b | null | 28,101,164 | The expression levels of neuron-specific enolase (NSE), S100b, B-cell lymphoma 2 (Bcl-2), Bcl-2 associated X protein, cytochrome c and brain-derived neurotrophic factor (BDNF) in the hippocampus were measured by western blot analysis. | null | null | null |
null | null | Negative | MESH:D016609 | null | null | maintenance therapy | 30818 | null | DREAM | null | 28,140,799 | The DREAM trial compares a maintenance therapy (MT) with bev +/- EGFR tyrosine kinase inhibitor erlotinib (E) after a first-line Bev-based induction therapy (IT) in pts with mCRC. | null | null | null |