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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D054069 | null | null | EMA | 4313 | null | MMP2 | null | 28,020,743 | RESULTS: The SVM model integrates three clinicopathologic features (tumor diameter, preoperative hemoglobin level, adjuvant chemotherapy ) and 24 immunomarkers (Survivin, cmyc, CD44v6, MMP7, CK19, P16, PTEN, TIMP1, CyclinE, MMP2, SMAD4, VEGF, MUC2, Ecadherin, Her2, CK20, P27, APC, CD147, cmet, COX2, CDX2, MGMT, EMA). | null | null | null |
null | null | Negative | MESH:D057772 | null | null | vascular injury | 66549 | null | Aggf1 | null | 28,153,879 | We investigated the involvement of angiogenic factor with G patch and FHA domains 1 (Aggf1) in vascular injury focusing on the transcriptional regulation of vascular smooth muscle cell signature genes. | null | null | null |
1 | 0 | Biomarker | C0024115 | Lung diseases | group | lung disease | 6648 | SOD2 | MnSOD | CTD_human | 8,063,194 | Thus, elevations of MnSOD mRNA levels in lung or BAL may be predictive of lung disease. | 0.200549 | Thus, elevations of <span class="gene" id="8063194-8-20-25">MnSOD</span> mRNA levels in lung or BAL may be predictive of <span class="disease" id="8063194-8-74-86">lung disease</span>. | CTD_human |
null | null | Negative | MESH:D035583 | null | null | rare disease | 2688 | null | growth hormone | null | 28,025,719 | UNASSIGNED: Acromegaly, a rare disease due to growth hormone (GH) hypersecretion by a pituitary adenoma, is associated with severe comorbidity and premature death if not adequately treated. | null | null | null |
null | null | Negative | MESH:D050177 | null | null | overweight | 2641 | null | glucagon-like peptide-1 | null | 28,074,747 | The following key terms were used alone or in combination: glucagon-like peptide-1 agonist, liraglutide, obesity, overweight, and weight loss. | null | null | null |
null | null | Negative | MESH:C563733 | null | null | Carotid intima-media thickness | 404677 | null | CIMT | null | 28,150,294 | BACKGROUND: Carotid intima-media thickness (CIMT) has been proposed as a surrogate marker of atherosclerotic disease. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | MF/MC disease | 2064 | null | HER2 | null | 28,136,627 | HIV-infected patients with breast cancer presented with more HER2 positivity, higher grade, less favorable luminal B subtype, and more MF/MC disease. | null | null | null |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | GBM | 4853 | NOTCH2 | Notch2 | CTD_human | 21,127,729 | Knockdown of individual Notch receptors revealed that Notch1 and Notch2 receptors differentially contributed to GBM cell growth, with Notch2 having a predominant role. | 0.201648 | Knockdown of individual Notch receptors revealed that Notch1 and <span class="gene" id="21127729-5-65-71">Notch2</span> receptors differentially contributed to <span class="disease" id="21127729-5-112-115">GBM</span> cell growth, with <span class="gene" id="21127729-5-134-140">Notch2</span> having a predominant role. | CTD_human |
4 | 1 | Biomarker | C1956346 | Coronary Artery Disease | disease | coronary artery disease | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 10,510,054 | A common variant of the endothelial nitric oxide synthase (Glu298-->Asp) is a major risk factor for coronary artery disease in the UK. | 0.321301 | A common variant of the <span class="gene" id="10510054-0-24-57">endothelial nitric oxide synthase</span> (Glu298-->Asp) is a major risk factor for <span class="disease" id="10510054-0-100-123">coronary artery disease</span> in the UK. | CTD_human |
2 | 0 | Biomarker | C0023418 | leukemia | disease | leukaemia | 4297 | KMT2A | MLL | CTD_human | 12,937,054 | A single case is described of congenital leukaemia with 11q23/MLL rearrangement in a preterm female newborn. | 0.320342 | A single case is described of congenital <span class="disease" id="12937054-1-41-50">leukaemia</span> with 11q23/<span class="gene" id="12937054-1-62-65">MLL</span> rearrangement in a preterm female newborn. | CTD_human |
10 | 3 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's disease | 120892 | LRRK2 | leucine-rich repeat kinase 2 | CTD_human | 17,388,990 | A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia. | 0.44 | A common <span class="gene" id="17388990-0-9-37">leucine-rich repeat kinase 2</span> gene mutation in familial and sporadic <span class="disease" id="17388990-0-77-96">Parkinson's disease</span> in Russia. | CTD_human |
null | null | Negative | MESH:C535607 | null | null | AGS | 8743 | null | tumor necrosis factor-related apoptosis-inducing ligand | null | 28,074,048 | Compounds 1-6 were evaluated for their abilities to overcome tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) resistance in human gastric adenocarcinoma (AGS) cells. | null | null | null |
null | null | Negative | MESH:D004827 | null | null | epilepsy | 114244 | null | hyperpolarization-activated cyclic nucleotide-gated ion channel 2 | null | 28,017,718 | Interestingly, one of the purified proteins was potassium/sodium hyperpolarization-activated cyclic nucleotide-gated ion channel 2 (HCN2), which has been shown to be involved in epilepsy. | null | null | null |
null | null | Negative | MESH:D052476 | null | null | deficiency of apolipoprotein | 18751 | null | PKCb | null | 28,210,689 | Interestingly, a deficiency of apolipoprotein E abrogated the diet-induced hepatic PKCb expression, whereas a deficiency of liver X receptor-a further potentiated the induction, suggesting a potential link between the degree of hepatic PKCb induction and the intracellular cholesterol content. | null | null | null |
1 | 4 | Biomarker | C0010068 | Coronary heart disease | disease | coronary heart disease | 4018 | LPA | apolipoprotein(a | CTD_human | 10,484,779 | High plasma concentrations of lipoprotein(a) [Lp(a)], a covalent low-density lipoprotein-apolipoprotein(a) [apo(a)] complex, are associated with coronary heart disease and stroke. | 0.252051 | High plasma concentrations of <span class="gene" id="10484779-1-30-43">lipoprotein(a</span>) [Lp(a)], a covalent low-density lipoprotein-<span class="gene" id="10484779-1-89-105">apolipoprotein(a</span>) [apo(a)] complex, are associated with <span class="disease" id="10484779-1-145-167">coronary heart disease</span> and stroke. | CTD_human |
null | null | Negative | MESH:D005671 | null | null | double hexamer | 990 | null | Cdc6 | null | 28,191,894 | During G1 phase, two Cdt1-Mcm2-7 heptamers are loaded onto each replication origin by the origin-recognition complex (ORC) and Cdc6 to form an inactive MCM double hexamer (DH), but the detailed loading mechanism remains unclear. | null | null | null |
null | null | Negative | MESH:D008103 | null | null | liver fibrosis | 17250 | null | MRP1 | null | 28,098,912 | In conclusion, the present study demonstrated that miR-9 suppresses the proliferation and activation of HSCs through the Hh pathway by targeting MRP1, which suggests that miR-9 has therapeutic potential for liver fibrosis. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 4915 | NTRK2 | NTRK2 | CTD_human | 20,662,941 | Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism. | 0.202682 | Increased BDNF levels and <span class="gene" id="20662941-0-26-31">NTRK2</span> gene association suggest a disruption of BDNF/TrkB signaling in <span class="disease" id="20662941-0-96-102">autism</span>. | CTD_human |
3 | 0 | Biomarker | C0598608 | Hyperhomocysteinemia | disease | hyperhomocysteinemia | 875 | CBS | CBS | CTD_human | 19,028,542 | We have recently demonstrated that the supplementation of catechin, a polyphenol found in the red wine, significantly reduced plasma homocysteine level in cystathionine beta synthase (CBS) deficient mice, a murine model of hyperhomocysteinemia. | 0.229249 | We have recently demonstrated that the supplementation of catechin, a polyphenol found in the red wine, significantly reduced plasma homocysteine level in <span class="gene" id="19028542-3-155-182">cystathionine beta synthase</span> (<span class="gene" id="19028542-3-184-187">CBS</span>) deficient mice, a murine model of <span class="disease" id="19028542-3-223-243">hyperhomocysteinemia</span>. | CTD_human |
null | null | Negative | MESH:D006332 | null | null | cardiac hypertrophy | 24179 | null | Ang II | null | 28,095,237 | In this study we examined the effect of candesartan, an Ang II type 1-(AT1)-receptor antagonist, on cardiac hypertrophy by using cultured neonatal rat cardiomyocytes. | null | null | null |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizure | 1191 | CLU | clusterin | CTD_human | 23,266,720 | The results of the present study suggest that E-64d, an elective inhibitor of calpain and autophagy, is potentially useful in the treatment of developmental seizure-induced brain damage both by regulating abnormal zinc signal transduction and through the modulation of altered lipid metabolism via ApoE/clusterin pathway in hippocampus. | 0.2 | The results of the present study suggest that E-64d, an elective inhibitor of calpain and autophagy, is potentially useful in the treatment of developmental <span class="disease" id="23266720-11-157-164">seizure</span>-induced brain damage both by regulating abnormal zinc signal transduction and through the modulation of altered lipid metabolism via ApoE/<span class="gene" id="23266720-11-303-312">clusterin</span> pathway in hippocampus. | CTD_human |
null | null | Negative | MESH:D001168 | null | null | arthritis | 228869 | null | CIA | null | 28,013,195 | Finally, we investigated the effects of systemic nicotine exposure on arthritis severity and NETosis in the CIA mouse model. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | allergic airway inflammation | 282665 | null | Ovalbumin | null | 28,129,681 | Ovalbumin was administered intraperitoneally and via inhalation to achieve allergic airway inflammation mice model and treatments were also given intraperitoneally. | null | null | null |
null | null | Negative | MESH:D002524 | null | null | cerebellar ataxia type-1 | 12287 | null | b-III | null | 28,173,092 | Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type-1 (SPARCA1) are mirrored in mice lacking b-III spectrin (b-III-/-). | null | null | null |
null | null | Negative | MESH:C536528 | null | null | cardiorespiratory condition | 3479 | null | IGF-I | null | 28,011,098 | The body composition and cardiorespiratory condition of the swimmers did not vary significantly throughout the season, exhibiting behaviour independent of IGF-I or IGFBP-3. | null | null | null |
null | null | Negative | MESH:D013717 | null | null | tenosynovitis | 3972 | null | LHB | null | 28,043,748 | PURPOSE: The objective of this study was to assess the outcomes after subpectoral biceps tenodesis (BT) for long head of the biceps (LHB) tenosynovitis in active patients <45 years old. | null | null | null |
null | null | Negative | MESH:D012640 | null | null | seizure | 382056 | null | mTORC1 | null | 28,199,315 | Here we show that SZT2 (seizure threshold 2), a metazoan-specific protein mutated in epilepsy, recruits a fraction of mammalian GATOR1 and GATOR2 to form a SZT2-orchestrated GATOR (SOG) complex with an essential role in GATOR- and SESN-dependent nutrient sensing and mTORC1 regulation. | null | null | null |
4 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 847 | CAT | catalase | CTD_human | 15,752,349 | Our results suggest that GSH and catalase activity play an antioxidant role in the hippocampus during status epilepticus. | 0.2 | Our results suggest that GSH and <span class="gene" id="15752349-10-33-41">catalase</span> activity play an antioxidant role in the hippocampus during <span class="disease" id="15752349-10-102-120">status epilepticus</span>. | CTD_human |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 17087 | null | MD2 | null | 28,013,347 | Using a specific small molecule MD2 blocker L6H21 and the MD2 knockout mice, we show that MD2 deficiency significantly reduces cardiac inflammation and subsequent fibrosis, hypertrophy, and dysfunction in mice challenged with subcutaneous injection of Ang II. | null | null | null |
1 | 0 | Biomarker | C0021841 | Intestinal Neoplasms | group | intestinal tumors | 596 | BCL2 | Bcl-2 | CTD_human | 10,223,192 | Relationship of beta-catenin and Bcl-2 expression to sulindac-induced regression of intestinal tumors in Min mice. | 0.200275 | Relationship of beta-catenin and <span class="gene" id="10223192-0-33-38">Bcl-2</span> expression to sulindac-induced regression of <span class="disease" id="10223192-0-84-101">intestinal tumors</span> in Min mice. | CTD_human |
null | null | Negative | MESH:D016776 | null | null | Blastocystis | 81502 | null | spp | null | 28,167,596 | AbstractThis study was conducted to investigate the prevalence of Blastocystis spp. | null | null | null |
null | null | Negative | MESH:D005671 | null | null | double mutant mice | 13198 | null | CHOP | null | 28,139,216 | We hypothesized that adult offspring of double mutant mice (DM) involving the critical ISR genes CHOP and GADD34 would be protected from developing obesity and insulin resistance following SF. | null | null | null |
17 | 19 | Biomarker | C0162568 | Erythropoietic Protoporphyria | disease | EPP | 2235 | FECH | FECH | CTD_human | 12,950,064 | Erythropoietic protoporphyria (EPP) is an inherited disease characterised by a ferrochelatase (FECH) deficiency, the latest enzyme of the heme biosynthetic pathway, leading to the accumulation of toxic protoporphyrin in the liver, bone marrow and spleen. | 0.730919 | <span class="disease" id="12950064-1-0-29">Erythropoietic protoporphyria</span> (<span class="disease" id="12950064-1-31-34">EPP</span>) is an inherited disease characterised by a <span class="gene" id="12950064-1-79-93">ferrochelatase</span> (<span class="gene" id="12950064-1-95-99">FECH</span>) deficiency, the latest enzyme of the heme biosynthetic pathway, leading to the accumulation of toxic protoporphyrin in the liver, bone marrow and spleen. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0018784 | Sensorineural Hearing Loss (disorder) | disease | sensorineural hearing impairment | 2707 | GJB3 | D66del | CTD_human | 11,309,368 | We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. | 0.401374 | We report here a dominant mutation in the <span class="gene" id="11309368-2-42-46">GJB3</span> gene (<span class="gene" id="11309368-2-53-59">D66del</span>) in a family affected with peripheral neuropathy and <span class="disease" id="11309368-2-113-145">sensorineural hearing impairment</span>. | CTD_human;HPO |
null | null | Negative | MESH:D008107 | null | null | liver inflammation | 16176 | null | IL-1b | null | 28,167,322 | MCC950 treatment normalized hepatic caspase 1 and IL-1b expression, plasma IL-1b, MCP-1 and IL-6, lowered ALT/AST, and reduced the severity of liver inflammation including designation as NASH pathology, and liver fibrosis. | null | null | null |
null | null | Negative | MESH:D007511 | null | null | ischemia | 245920 | null | CXCL10 | null | 28,187,734 | RESULTS: SB treatment-reduced brain damage, as assessed by HE staining, suppressed the production of inflammatory markers-IL-1b, chemokine CXCL10, and blocked ischemia-elicited upregulation of COX-2 in the damaged ipsilateral hemisphere. | null | null | null |
null | null | Negative | MESH:D001927 | null | null | histological cryptococcoma-like lesions | 21926 | null | TNF-a | null | 28,074,867 | Severe cryptococcosis in the FcyRIIb-/- mice was demonstrated by high fungal burdens in the internal organs with histological cryptococcoma-like lesions and high levels of TNF-a and IL-6, but not IL-10. | null | null | null |
1 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 23411 | SIRT1 | SIRT1 | CTD_human | 23,834,033 | The miR-34a/NAMPT axis presents a potential target for treating obesity- and aging-related diseases involving SIRT1 dysfunction like steatosis and type 2 diabetes. | 0.292441 | The miR-34a/NAMPT axis presents a potential target for treating obesity- and aging-related diseases involving <span class="gene" id="23834033-13-110-115">SIRT1</span> dysfunction like steatosis and <span class="disease" id="23834033-13-147-162">type 2 diabetes</span>. | CTD_human |
null | null | Negative | MESH:D011471 | null | null | initiation of prostate carcinogenesis | 16000 | null | IGF-I | null | 28,142,953 | CONCLUSIONS: Our data suggest that initiation of prostate carcinogenesis by loss of PTEN is not influenced by germ line variation of genes encoding signaling molecules in the GH/IGF-I axis, but suggests that such factors may affect the progression of dysplasic phenotype. | null | null | null |
null | null | Negative | MESH:C538322 | null | null | MSI-H | 4292 | null | MLH1 | null | 28,021,974 | MMR status had been analyzed, and deficient MMR was defined as MSI-H or loss of MLH1, MSH2 and/or MSH6 proteins by IHC. | null | null | null |
null | null | Negative | MESH:D003398 | null | null | Syndromic craniosynostosis | 14183 | null | FGFR2 | null | 28,069,589 | Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. | null | null | null |
null | null | Negative | MESH:D006333 | null | null | decreased cardiac function | 19014 | null | mediator subunit 1 | null | 28,159,809 | Cardiac-specific deletion of the transcriptional coactivator mediator subunit 1 (Med1) results in dilated cardiomyopathy, decreased cardiac function, and lethality. | null | null | null |
2 | 16 | Biomarker | C0342907 | Sitosterolemia | disease | sitosterolemia | 64241 | ABCG8 | ABCG8 | CTD_human | 11,099,417 | We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia. | 0.684945 | We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in <span class="gene" id="11099417-3-203-208">ABCG8</span> and one in ABCG5) in nine patients with <span class="disease" id="11099417-3-249-263">sitosterolemia</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 5218 | CDK14 | CDK14 | CTD_human | 22,922,871 | The results suggest that seven of these genes, including VCAM1 and CDK14, may confer growth and infiltration capacity to HCC cells. | 0.201099 | The results suggest that seven of these genes, including VCAM1 and <span class="gene" id="22922871-7-67-72">CDK14</span>, may confer growth and infiltration capacity to <span class="disease" id="22922871-7-121-124">HCC</span> cells. | CTD_human |
1 | 0 | Biomarker | C0031900 | Pierre Robin Syndrome | disease | Pierre Robin sequence | 6662 | SOX9 | SOX9 | CTD_human | 19,234,473 | Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. | 0.403022 | Highly conserved non-coding elements on either side of <span class="gene" id="19234473-0-55-59">SOX9</span> associated with <span class="disease" id="19234473-0-76-97">Pierre Robin sequence</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D000172 | null | null | acromegaly | 2696 | null | GIPR | null | 28,179,449 | Given the impairment of the GIP/GIPR axis in acromegaly, an additional aim was to assess the effect of GH/IGF-1 stimulation on GIP expression in the enteroendocrine cell line STC-1. | null | null | null |
1 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 6532 | SLC6A4 | 5-HTTLPR | CTD_human | 18,686,203 | These findings suggest that within this restricted population increased symptoms of depression, anxiety, and memory are associated with the 5-HTTLPR polymorphism among both males and females. | 0.268785 | These findings suggest that within this restricted population increased symptoms of depression, <span class="disease" id="18686203-11-96-103">anxiety</span>, and memory are associated with the <span class="gene" id="18686203-11-140-148">5-HTTLPR</span> polymorphism among both males and females. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | MIP | 2064 | null | HER2 | null | 28,125,801 | We examined 42 primary breast cancers with known HR and HER2 status assessed via immunohistochemistry and FISH and analyzed MIP microarray results for correlation with standard tests and survival outcomes. | null | null | null |
null | null | Negative | MESH:D012174 | null | null | retinitis pigmentosa | 1121 | null | choroideremia | null | 28,009,400 | PURPOSE: To report a real-life experience with the Argus II retinal prosthesis system in blind patients with end-stage retinitis pigmentosa (RP) or choroideremia (CHM), focusing on the pivotal role of optical coherence tomography (OCT) in both preoperative and postoperative management. | null | null | null |
1 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | ASD | 23462 | HEY1 | HEY1 | CTD_human | 20,868,653 | Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b. | 0.2 | Our analysis identified several novel dysregulated genes and miRNAs in <span class="disease" id="20868653-6-71-74">ASD</span> compared with controls, including <span class="gene" id="20868653-6-109-113">HEY1</span>, SOX9, miR-486 and miR-181b. | CTD_human |
3 | 0 | Biomarker | C0011881 | Diabetic Nephropathy | disease | diabetic nephropathy | 84735 | CNDP1 | carnosinase 1 | CTD_human | 17,942,768 | These complimentary approaches have demonstrated that polymorphisms in the carnosinase 1 gene on chromosome 18q, the adiponectin gene on 3q, and the engulfment and cell motility gene on 7p are likely associated with susceptibility to diabetic nephropathy. | 0.228187 | These complimentary approaches have demonstrated that polymorphisms in the <span class="gene" id="17942768-5-75-88">carnosinase 1</span> gene on chromosome 18q, the adiponectin gene on 3q, and the engulfment and cell motility gene on 7p are likely associated with susceptibility to <span class="disease" id="17942768-5-234-254">diabetic nephropathy</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 3569;3586 | null | interleukin-6, and -10 | null | 28,079,606 | MEASUREMENTS AND MAIN RESULTS: We measured a panel of biomarkers representing four pathophysiologic domains: "inflammation" (tumor necrosis factor, interleukin-6, and -10); "coagulation" (D-dimers, thrombin-antithrombin complex); "oxidative stress" (urine isoprostane); and "tissue hypoxia" (lactate) at 0, 6, 24, and 72 hours after treatment. | null | null | null |
null | null | Negative | MESH:D009175 | null | null | Mycoplasma | 24088 | null | Toll-like receptor 2 | null | 28,139,935 | Mycoplasma and Gram-positive bacteria, for which Toll-like receptor 2 (TLR2) plays a key role in recognition and inflammatory response, are among the most common pathogens in the perinatal period. | null | null | null |
1 | 0 | Biomarker | C0041296 | Tuberculosis | disease | tuberculosis | 3240 | HP | haptoglobin | CTD_human | 16,597,321 | Iron and infection: effects of host iron status and the iron-regulatory genes haptoglobin and NRAMP1 (SLC11A1) on host-pathogen interactions in tuberculosis and HIV. | 0.203557 | Iron and infection: effects of host iron status and the iron-regulatory genes <span class="gene" id="16597321-0-78-89">haptoglobin</span> and NRAMP1 (SLC11A1) on host-pathogen interactions in <span class="disease" id="16597321-0-144-156">tuberculosis</span> and HIV. | CTD_human |
null | null | Negative | MESH:C567886 | null | null | XPC | 7507 | null | XPA | null | 28,115,302 | Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5). | null | null | null |
null | null | Negative | MESH:D010146 | null | null | orofacial pain | 24807 | null | NK-1) receptor | null | 28,097,463 | Thus, in the present study, we determined whether the neurokinin-1 (NK-1) receptor, which is crucial for primary orofacial pain signaling, was expressed in MDH neurons co-innervating the thalamus and parabrachial nucleus. | null | null | null |
1 | 0 | Biomarker | C3711376 | Isodicentric Chromosome 15 Syndrome | disease | IDIC-15 | 2558 | GABRA5 | GABRA5 | CTD_human | 23,663,378 | Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes. | 0.2 | Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (<span class="disease" id="23663378-0-92-99">IDIC-15</span>) syndrome involving duplications of the GABRB3, <span class="gene" id="23663378-0-148-154">GABRA5</span> and GABRG3 genes. | CTD_human |
null | null | Negative | MESH:D007333 | null | null | insulin resistance | 6720;6721 | null | Srebf1/2 | null | 28,146,135 | Aspalathin was able to modulate key regulators associated with lipid metabolism (Adipoq, Apob, CD36, Cpt1, Ppary, Srebf1/2, Scd1 and Vldlr), insulin resistance (Igf1, Akt1, Pde3 and Map2k1), inflammation (Il3, Il6, Jak2, Lepr, Socs3, and Tnf13) and apoptosis (Bcl2 and Chuk). | null | null | null |
null | null | Negative | MESH:D055371 | null | null | ALI | 21898 | null | TLR4 | null | 28,099,145 | Collectively, the findings reveal that TLR4 mutant significantly abated the intestinal IR injury and ALI at least in part by alleviating the inflammatory response and oxidative stress. | null | null | null |
null | null | Negative | MESH:D009128 | null | null | spasticity | 6094 | null | ROM | null | 28,145,396 | Pain (VAS), ROM (goniometry), spasticity (Modified Ashworth Scale), Fugl-Meyer Assessment and trunk stability (TIS) were also assessed before and after the intervention. | null | null | null |
25 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 348 | APOE | apolipoprotein E | CTD_human | 9,409,251 | Reduced progression of atherosclerosis in apolipoprotein E-deficient mice following consumption of red wine, or its polyphenols quercetin or catechin, is associated with reduced susceptibility of LDL to oxidation and aggregation. | 0.587329 | Reduced progression of <span class="disease" id="9409251-0-23-38">atherosclerosis</span> in <span class="gene" id="9409251-0-42-58">apolipoprotein E</span>-deficient mice following consumption of red wine, or its polyphenols quercetin or catechin, is associated with reduced susceptibility of LDL to oxidation and aggregation. | CTD_human;HPO |
null | null | Negative | MESH:D011475 | null | null | overall survival | 920 | null | CD4 | null | 28,023,298 | Patients with a CD4 count >100 had superior progression free survival (PFS) and overall survival (OS) (p= 0.019, p=0.016). | null | null | null |
5 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 3265 | HRAS | Ha-ras | CTD_human | 10,779,650 | Carcinogen dose-dependent variation in the transgene mutation spectrum in urethane-induced lung tumors in transgenic mice carrying the human prototype c-Ha-ras gene. | 0.201099 | Carcinogen dose-dependent variation in the transgene mutation spectrum in urethane-induced <span class="disease" id="10779650-0-91-102">lung tumors</span> in transgenic mice carrying the human prototype c-<span class="gene" id="10779650-0-153-159">Ha-ras</span> gene. | CTD_human |
null | null | Negative | MESH:D013274 | null | null | gastric cancer | 14160 | null | LGR5 | null | 28,033,430 | CONCLUSION: The LGR5-expressing fraction of CD54+ cells represents gastric cancer CSCs, in which LGR5 is closely associated with stemness and EMT core genes, and NANOG expression is mainly contributed by the retrogene NANOGP8. | null | null | null |
1 | 0 | Biomarker | C0011616 | Contact Dermatitis | disease | contact dermatitis | 9076 | CLDN1 | CLDN1 | CTD_human | 23,136,956 | The CLDN1 polymorphisms rs9290927, rs893051 and rs17501010 were associated, respectively, with nickel contact sensitization in individuals without ear piercings, contact sensitization to fragrances, and with both organic compounds and nickel contact dermatitis. | 0.200275 | The <span class="gene" id="23136956-11-4-9">CLDN1</span> polymorphisms rs9290927, rs893051 and rs17501010 were associated, respectively, with nickel contact sensitization in individuals without ear piercings, contact sensitization to fragrances, and with both organic compounds and nickel <span class="disease" id="23136956-11-242-260">contact dermatitis</span>. | CTD_human |
null | null | Negative | MESH:C536108 | null | null | N-N bond dissociation | 5962 | null | RDX | null | 28,094,774 | Moreover, the rate constants of the gas-phase RDX and HMX conformers, concerning the N-N bond dissociation, were evaluated using the microcanonical variational transition state theory ( VT). | null | null | null |
null | null | Negative | MESH:D012778 | null | null | short bowel syndrome | 2641 | null | glucagon-like peptide-2 | null | 28,194,723 | UNASSIGNED: Subcutaneous teduglutide (Revestive( )), a glucagon-like peptide-2 analogue that increases intestinal absorption, is approved in the EU for the treatment of short bowel syndrome (SBS) in patients aged >= 1 year who are stable following a period of postsurgical intestinal adaptation. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild-type | 546729 | null | Calhm1 | null | 28,202,574 | In this study, we compared membrane conductances and action potentials in single identified TRPM5-GFP-expressing circumvallate papillae type II cells acutely isolated from wild-type (WT) and Calhm1 knockout (KO) mice. | null | null | null |
3 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizure | 627 | BDNF | BDNF | CTD_human | 15,781,040 | PRI-2191 alone had no effect on gene expression, but it enhanced the seizure-evoked expression of HSP-70, had an opposite effect on BDNF mRNA level and did not affect prepro-TRH mRNA level. | 0.203571 | PRI-2191 alone had no effect on gene expression, but it enhanced the <span class="disease" id="15781040-7-69-76">seizure</span>-evoked expression of HSP-70, had an opposite effect on <span class="gene" id="15781040-7-132-136">BDNF</span> mRNA level and did not affect prepro-TRH mRNA level. | CTD_human |
1 | 0 | Therapeutic | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 51163 | DBR1 | RNA lariat debranching enzyme | CTD_human | 23,104,007 | Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. | 0.200275 | Inhibition of <span class="gene" id="23104007-0-14-43">RNA lariat debranching enzyme</span> suppresses TDP-43 toxicity in <span class="disease" id="23104007-0-74-77">ALS</span> disease models. | CTD_human |
2 | 1 | Therapeutic | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 3570 | IL6R | interleukin-6 receptor | CTD_human | 16,729,287 | Anti-interleukin-6 receptor antibody therapy favors adrenal androgen secretion in patients with rheumatoid arthritis: a randomized, double-blind, placebo-controlled study. | 0.206253 | Anti-<span class="gene" id="16729287-0-5-27">interleukin-6 receptor</span> antibody therapy favors adrenal androgen secretion in patients with <span class="disease" id="16729287-0-96-116">rheumatoid arthritis</span>: a randomized, double-blind, placebo-controlled study. | CTD_human |
5 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 7157 | TP53 | p53 | CTD_human | 16,410,370 | The incidence of KRAS2 mutations in human compared to mouse lung tumors differed significantly, as did the incidence of Hras and p53 gene mutations in human compared to mouse liver tumors. | 0.489685 | The incidence of KRAS2 mutations in human compared to mouse <span class="disease" id="16410370-8-60-71">lung tumors</span> differed significantly, as did the incidence of Hras and <span class="gene" id="16410370-8-129-132">p53</span> gene mutations in human compared to mouse liver tumors. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | inha/Tag adrenal tumors | 17391 | null | Mmp24 | null | 28,131,743 | Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inha/Tag adrenal tumors. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | SD | 2821 | null | Ph I | null | 28,022,310 | We hypothesized that the application of CTGR and NPI can help identify Ph I pts with SD who derive survival benefit from therapy. | null | null | null |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 3082 | HGF | HGF | CTD_human | 25,971,889 | Hepatocyte growth factor (HGF)-mediated activation of c-Met signaling has been suggested as a therapeutic target for melanoma metastasis. | 0.240877 | <span class="gene" id="25971889-3-0-24">Hepatocyte growth factor</span> (<span class="gene" id="25971889-3-26-29">HGF</span>)-mediated activation of c-Met signaling has been suggested as a therapeutic target for melanoma <span class="disease" id="25971889-3-126-136">metastasis</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 8144 | null | MGI | null | 28,105,737 | Outcomes were measured at baseline and 6 weeks, which included: inflammation (MGI, Lobene), bleeding (PBI, Loesche) and Plaque (Turesky). | null | null | null |
1 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumor | 3925 | STMN1 | Stathmin | CTD_human | 17,455,228 | Stathmin levels increase early during normal mouse prostate development and again during prostate tumor development and progression. | 0.200549 | <span class="gene" id="17455228-6-0-8">Stathmin</span> levels increase early during normal mouse prostate development and again during <span class="disease" id="17455228-6-89-103">prostate tumor</span> development and progression. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 121278 | TPH2 | TPH2 | CTD_human | 15,768,392 | Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). | 0.215541 | Possible association between <span class="disease" id="15768392-0-29-35">autism</span> and variants in the brain-expressed tryptophan hydroxylase gene (<span class="gene" id="15768392-0-101-105">TPH2</span>). | CTD_human |
null | null | Negative | MESH:D001260 | null | null | T-helper 2 | 16163 | null | IL-13 | null | 28,078,033 | Intravenous injection of BMSCs significantly reduced allergic symptoms, eosinophil infiltration, OVA-specific immunoglobulin E (IgE), T-helper 2 (Th2) cytokine profile (interleukin (IL)-4, IL-5 and IL-13) and regulatory cytokines (IL-10). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumors | 214084 | null | VMAT2 | null | 28,213,878 | In vivo experiments were performed in nude mice bearing transfected tumors; results revealed that NET-VMAT2-coexpressing tumors had longer (131)I-MIBG retention time than NET-expressing tumors. | null | null | null |
null | null | Negative | MESH:D015658 | null | null | human immunodeficiency virus type 1 | 155971 | null | glycoprotein 120 | null | 28,005,232 | It is widely accepted that human immunodeficiency virus type 1 (HIV-1) envelope glycoprotein 120 (gp120) plays an important role in HIV-1-induced neural injury and pathogenesis of HIV-1-associated dementia (HAND). | null | null | null |
null | null | Negative | MESH:D020295 | null | null | Stemness | 4233 | null | c-MET | null | 28,114,366 | Stemness features of tumoral hepatocytes (EpCAM, K19, Oct3/4, c-KIT, c-MET, and CD133), and tumor stromal cells expressing a-smooth muscle actin (a-SMA), CD68, CD163, and IL-6 were analyzed in 36 low grade dysplastic nodules (DNs), 48 high grade DNs, 30 early HCCs (eHCCs), and 51 progressed HCCs (pHCCs) by immunohistochemistry or real-time PCR. | null | null | null |
null | null | Negative | MESH:C565133 | null | null | CCL-2 | 3553 | null | IL1b | null | 28,142,894 | METHODS: A retrospective analysis of inflammatory markers including IL1b, IL-6, IL-8, TNFa and CCL-2 was undertaken in men initiating ADT for metastatic prostate cancer. | null | null | null |
null | null | Negative | MESH:D008175 | null | null | lung cancer | 561835 | null | RICTOR | null | 28,028,034 | Molecular classification has uncovered a number of novel targets, and rapamycin-insensitive companion of mTOR (RICTOR) amplification has been identified in lung cancer. | null | null | null |
null | null | Negative | MESH:D034721 | null | null | cutaneous and systemic disease | 2235 | null | ferrochelatase | null | 28,075,030 | Erythropoietic protoporphyria (EPP) is a rare cutaneous and systemic disease caused by mutations in the ferrochelatase gene (FECH). | null | null | null |
null | null | Negative | MESH:D054973 | null | null | melanotic PEComa | 7030 | null | TFE3 | null | 28,009,605 | Here we describe a case of a melanotic PEComa with NONO-TFE3 fusion occurring in the sinonasal mucosa, as demonstrated by both next-generation sequencing and molecular cytogenetic studies. | null | null | null |
null | null | Negative | MESH:C537676 | null | null | GBM | 7379 | null | up 2 | null | 28,207,902 | GBM receiving treatment for methamphetamine use from ACON's Substance Support Service between 2012-15 (n = 101) were interviewed at treatment commencement, and after 4 sessions (n = 60; follow-up 1) and 8 sessions (n = 32; follow-up 2). | null | null | null |
null | null | Negative | MESH:D014060 | null | null | tongue agenesis | 7471 | null | Wnt1 | null | 28,069,795 | Wnt1-Cre;Ift88fl/flpups died at birth due to severe craniofacial defects including bilateral cleft lip and palate and tongue agenesis, following the loss of the primary cilia in the CNC-derived palatal mesenchyme. | null | null | null |
2 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 8991 | SELENBP1 | SELENBP1 | CTD_human | 18,163,446 | The utility of SELENBP1 gene expression as a biomarker for major psychotic disorders: replication in schizophrenia and extension to bipolar disorder with psychosis. | 0.203506 | The utility of <span class="gene" id="18163446-0-15-23">SELENBP1</span> gene expression as a biomarker for major psychotic disorders: replication in <span class="disease" id="18163446-0-101-114">schizophrenia</span> and extension to bipolar disorder with psychosis. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 23410 | SIRT3 | SIRT3 | CTD_human | 23,956,348 | Skeletal muscle MnSOD, mitochondrial complex II, and SIRT3 enzyme activities are decreased in maternal obesity during human pregnancy and gestational diabetes mellitus. | 0.280549 | Skeletal muscle MnSOD, mitochondrial complex II, and <span class="gene" id="23956348-0-53-58">SIRT3</span> enzyme activities are decreased in maternal <span class="disease" id="23956348-0-103-110">obesity</span> during human pregnancy and gestational diabetes mellitus. | CTD_human |
null | null | Negative | MESH:C567751 | null | null | vesicle flotation | 2187 | null | Fab | null | 28,213,514 | We first employed a physical separation approach (vesicle flotation) and subsequently carried out quantitative fluorescence measurements in an intact system (spectroscopic titration), using 4E10 Fab labeled with a polarity-sensitive fluorescent probe. | null | null | null |
null | null | Negative | MESH:C562470 | null | null | ILD | 5657 | null | ACPA | null | 28,207,496 | Specifically, the association among cigarette smoking, high rheumatoid factor titer, elevated anticitrullinated protein antibody (ACPA) levels, and RA-ILD was strengthened. | null | null | null |
1 | 0 | Biomarker | C0027720 | Nephrosis | disease | nephrosis | 10763 | NES | nestin | CTD_human | 16,418,842 | To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis. | 0.2 | To gain insight into the role of IF proteins in podocytes, we investigated the expression of <span class="gene" id="16418842-2-93-99">nestin</span>, vimentin, and desmin in puromycin aminonucleoside (PAN) <span class="disease" id="16418842-2-157-166">nephrosis</span>. | CTD_human |
1 | 0 | Biomarker | C1956346 | Coronary Artery Disease | disease | coronary artery disease | 406938 | MIR146A | miR-146a | CTD_human | 20,524,934 | Expression of miR-146a/b is associated with the Toll-like receptor 4 signal in coronary artery disease: effect of renin-angiotensin system blockade and statins on miRNA-146a/b and Toll-like receptor 4 levels. | 0.201099 | Expression of <span class="gene" id="20524934-0-14-22">miR-146a</span>/b is associated with the Toll-like receptor 4 signal in <span class="disease" id="20524934-0-79-102">coronary artery disease</span>: effect of renin-angiotensin system blockade and statins on miRNA-146a/b and Toll-like receptor 4 levels. | CTD_human |
null | null | Negative | OMIM:211750 | null | null | cobalamin C disease | 23624 | null | cblC | null | 28,151,490 | PURPOSE: Despite implementation of newborn screening (NBS), outcomes in cobalamin C disease (cblC) remain poor. | null | null | null |
1 | 0 | Biomarker | C0039101 | synovial sarcoma | disease | synovial sarcoma | 6760 | SS18 | SYT | CTD_human | 9,428,816 | SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma. | 0.452704 | <span class="gene" id="9428816-0-0-3">SYT</span>-SSX gene fusion as a determinant of morphology and prognosis in <span class="disease" id="9428816-0-68-84">synovial sarcoma</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0011849 | Diabetes Mellitus | group | diabetes mellitus | 7058 | THBS2 | thrombospondin-2 | CTD_human | 23,723,366 | Oxidative stress-mediated thrombospondin-2 upregulation impairs bone marrow-derived angiogenic cell function in diabetes mellitus. | 0.2 | Oxidative stress-mediated <span class="gene" id="23723366-0-26-42">thrombospondin-2</span> upregulation impairs bone marrow-derived angiogenic cell function in <span class="disease" id="23723366-0-112-129">diabetes mellitus</span>. | CTD_human |
1 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 7157 | TP53 | p53 | CTD_human | 17,434,459 | These results indicate that p53 plays a functional role in oxidative stress-induced cell death and supports the possibility that elevated p53 could be involved in motor neuron death in ALS and the wobbler mouse. | 0.201648 | These results indicate that <span class="gene" id="17434459-8-28-31">p53</span> plays a functional role in oxidative stress-induced cell death and supports the possibility that elevated <span class="gene" id="17434459-8-138-141">p53</span> could be involved in motor neuron death in <span class="disease" id="17434459-8-185-188">ALS</span> and the wobbler mouse. | CTD_human |
2 | 2 | Biomarker | C0015625 | Fanconi Anemia | disease | Fanconi anemia | 55120 | FANCL | PHF9 | CTD_human | 12,973,351 | Our data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. | 0.40603 | Our data suggest that <span class="gene" id="12973351-8-22-26">PHF9</span> has a crucial role in the <span class="disease" id="12973351-8-53-67">Fanconi anemia</span> pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0162871 | Aortic Aneurysm, Abdominal | disease | abdominal aortic aneurysm | 4318 | MMP9 | MMP-9 | CTD_human | 17,196,988 | Experimental abdominal aortic aneurysm formation is associated with early increases in MnSOD expression and an increase in MMP-9 activity. | 0.236572 | Experimental <span class="disease" id="17196988-17-13-38">abdominal aortic aneurysm</span> formation is associated with early increases in MnSOD expression and an increase in <span class="gene" id="17196988-17-123-128">MMP-9</span> activity. | CTD_human |