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1 | 0 | Biomarker | C1955906 | Lymphoma, Extranodal NK-T-Cell | disease | NKTL | 8837 | CFLAR | c-FLIP | CTD_human | 15,924,153 | Moreover, immunohistochemistry on paraffin-embedded tissue revealed c-FLIP expression in 39% (14 of 36) of NKTL patients. | 0.200275 | Moreover, immunohistochemistry on paraffin-embedded tissue revealed <span class="gene" id="15924153-8-68-74">c-FLIP</span> expression in 39% (14 of 36) of <span class="disease" id="15924153-8-107-111">NKTL</span> patients. | CTD_human |
null | null | Negative | MESH:D050197 | null | null | atherosclerosis | 11816 | null | ApoE | null | 28,181,012 | We investigated the effect of the probiotic lactic acid bacterium Pediococcus acidilactici R037 on atherosclerosis using apolipoprotein E-deficient (ApoE <sup>-/-</sup>) mice. | null | null | null |
1 | 0 | Biomarker | C0010278 | Craniosynostosis | disease | craniosynostosis | 6938 | TCF12 | TCF12 | CTD_human | 23,354,436 | Using exome sequencing, we identified 38 heterozygous TCF12 mutations in 347 samples from unrelated individuals with craniosynostosis. | 0.400824 | Using exome sequencing, we identified 38 heterozygous <span class="gene" id="23354436-3-54-59">TCF12</span> mutations in 347 samples from unrelated individuals with <span class="disease" id="23354436-3-117-133">craniosynostosis</span>. | CTD_human;HPO |
null | null | Negative | MESH:D006946 | null | null | hyperinsulinemia | 16000 | null | IGF-1 | null | 28,088,698 | Cancer cell development can be promoted by increased levels of IGF-1 and hyperinsulinemia that are associated with diabetes type II. | null | null | null |
null | null | Negative | MESH:D002292 | null | null | RCC | 644914 | null | p21 | null | 28,020,562 | CONCLUSIONS: Our experience suggests the utility of de HIF1a, CAIX, PTEN, p21, thrombocytosis and neutrophilia as prognostic factors in patients with advanced RCC. | null | null | null |
null | null | Negative | MESH:D016511 | null | null | severe combined immune deficient | 2547 | null | Ku70 | null | 28,153,717 | In a severe combined immune deficient (SCID) mice Mia-PaCa-2 xenograft model, gemcitabine-induced anti-tumor activity was remarkably pontificated when combined with Ku70 shRNA knockdown in the xenografts. | null | null | null |
4 | 1 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 3949 | LDLR | LDLR | CTD_human | 11,947,894 | Male LDLR-KO mice fed a high cholesterol (HC; 1%) diet developed atherosclerosis at 8 months of age with hypercholesterolemia. | 0.261876 | Male <span class="gene" id="11947894-3-5-9">LDLR</span>-KO mice fed a high cholesterol (HC; 1%) diet developed <span class="disease" id="11947894-3-65-80">atherosclerosis</span> at 8 months of age with hypercholesterolemia. | CTD_human |
3 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 3358 | HTR2C | 5-HT(2C | CTD_human | 18,515,891 | Patients (n=134) were assessed for measures of obesity, other factors contributing to metabolic syndrome, and two genetic polymorphisms (5-HT(2C) receptor -759C/T and leptin -2548A/G). | 0.206737 | Patients (n=134) were assessed for measures of obesity, other factors contributing to <span class="disease" id="18515891-4-86-104">metabolic syndrome</span>, and two genetic polymorphisms (<span class="gene" id="18515891-4-137-144">5-HT(2C</span>) receptor -759C/T and leptin -2548A/G). | CTD_human |
null | null | Negative | MESH:D009136 | null | null | Facioscapulohumeral muscular dystrophy | 2489 | null | FSHD | null | 28,161,093 | Facioscapulohumeral muscular dystrophy (FSHD) is associated with aberrant epigenetic regulation of the chromosome 4q35 D4Z4 macrosatellite repeat. | null | null | null |
null | null | Negative | MESH:D006984 | null | null | hypertrophic | 71609 | null | TRADD | null | 28,013,046 | Moreover, cardiac hypertrophic and fibrotic markers were downregulated in TRADD knockout mice than those of wild-type mice following TAC. | null | null | null |
null | null | Negative | MESH:D013953 | null | null | TSLP | 16476 | null | activator protein 1 | null | 28,115,699 | Furthermore, we identified several functional NF-kB, activator protein 1 (AP1), STAT, and Smad DBS in the TSLP promoter region. | null | null | null |
1 | 0 | Biomarker | C0010701 | Phyllodes Tumor | disease | phyllodes tumors | 9968 | MED12 | MED12 | CTD_human | 26,437,033 | First, we frequently observed MED12 and RARA mutations in both fibroadenomas and phyllodes tumors, emphasizing the importance of these mutations in fibroepithelial tumorigenesis. | 0.203571 | First, we frequently observed <span class="gene" id="26437033-4-30-35">MED12</span> and RARA mutations in both fibroadenomas and <span class="disease" id="26437033-4-81-97">phyllodes tumors</span>, emphasizing the importance of these mutations in fibroepithelial tumorigenesis. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | diabetic | 81687 | null | MMP-9 | null | 28,182,694 | Whether wounding affects neutrophil MMP-9 and NGAL in diabetic animals is not known. | null | null | null |
null | null | Negative | MESH:D018307 | null | null | esophageal squamous cell cancer | 5781 | null | Shp2 | null | 28,085,101 | We investigated the function of Shp2 in esophageal squamous cell cancer (ESCC). | null | null | null |
null | null | Negative | MESH:D000309 | null | null | hypofunction | 14810 | null | NMDAr | null | 28,092,019 | Our results support a modulatory role of the ECS on the toxic profile exerted by MPTP in mice via the stimulation of antioxidant activity and the induction of NMDAr downregulation and hypofunction, and favor the stimulation of CBr as an effective experimental therapeutic strategy. | null | null | null |
null | null | Negative | MESH:D015775 | null | null | endoplasmic reticulum stress | 230908 | null | TDP-43 | null | 28,011,744 | A specific inhibitor of extracellular PPIA, MM218, given at symptom onset, rescued motor neurons and extended survival in the SOD1(G93A) mouse model of familial ALS by 11 d. The treatment resulted in the polarization of glia toward a prohealing phenotype associated with reduced NF-kB activation, proinflammatory markers, endoplasmic reticulum stress, and insoluble phosphorylated TDP-43. | null | null | null |
null | null | Negative | MESH:D001523 | null | null | aggression | 403450 | null | MAOA | null | 28,101,368 | BACKGROUND: In humans, reduced activity of the enzyme monoamine oxidase type A (MAOA) due to genetic polymorphisms within the MAOA gene leads to increased brain neurotransmitter levels associated with aggression. | null | null | null |
1 | 0 | Biomarker | C0004096 | Asthma | disease | bronchial asthma | 374 | AREG | amphiregulin | CTD_human | 15,696,081 | Therefore, amphiregulin may be a new target molecule for treatment of overproduction of sputum in bronchial asthma. | 0.204656 | Therefore, <span class="gene" id="15696081-13-11-23">amphiregulin</span> may be a new target molecule for treatment of overproduction of sputum in <span class="disease" id="15696081-13-98-114">bronchial asthma</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic | 1588 | CYP19A1 | aromatase | CTD_human | 21,359,227 | We further show that aromatase protein is significantly reduced in the frontal cortex of autistic subjects relative to sex- and age-matched controls, and is strongly correlated with RORA protein levels in the brain. | 0.202682 | We further show that <span class="gene" id="21359227-4-21-30">aromatase</span> protein is significantly reduced in the frontal cortex of <span class="disease" id="21359227-4-89-97">autistic</span> subjects relative to sex- and age-matched controls, and is strongly correlated with RORA protein levels in the brain. | CTD_human |
8 | 2 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 775 | CACNA1C | CACNA1C | CTD_human | 21,926,974 | In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)). | 0.425013 | In a joint analysis with a <span class="disease" id="21926974-5-27-43">bipolar disorder</span> sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: <span class="gene" id="21926974-5-147-154">CACNA1C</span> (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)). | CTD_human;PSYGENET |
1 | 0 | Therapeutic | C0029463 | Osteosarcoma | disease | osteosarcoma | 7262 | PHLDA2 | TSSC3 | CTD_human | 22,021,909 | TSSC3 overexpression associates with growth inhibition, apoptosis induction and enhances chemotherapeutic effects in human osteosarcoma. | 0.201374 | <span class="gene" id="22021909-0-0-5">TSSC3</span> overexpression associates with growth inhibition, apoptosis induction and enhances chemotherapeutic effects in human <span class="disease" id="22021909-0-123-135">osteosarcoma</span>. | CTD_human |
null | null | Negative | MESH:D008545 | null | null | M | 5788;28907 | null | B 2/20 | null | 28,022,158 | Soft tissue effects: ORR at wk 12: overall = 34/398 (9%); O 12/51 (24%), H 4/29 (14%), P 5/100 (5%), NS 6/60 (10%), B 2/20 (10%), S 1/21 (5%), M 4/76 (5%). | null | null | null |
1 | 0 | Biomarker | C0027726 | Nephrotic Syndrome | group | nephrotic syndrome | 2981 | GUCA2B | Uroguanylin | CTD_human | 15,780,094 | Uroguanylin concentrations are increased in patients with chronic renal failure, nephrotic syndrome, or those on dialysis. | 0.202733 | <span class="gene" id="15780094-3-0-11">Uroguanylin</span> concentrations are increased in patients with chronic renal failure, <span class="disease" id="15780094-3-81-99">nephrotic syndrome</span>, or those on dialysis. | CTD_human |
null | null | Negative | MESH:D004342 | null | null | AAD | 15111 | null | Th2 | null | 28,093,832 | METHODS: C57BL/6 wild-type (WT) and IL-15(-/-) mice were sensitized and challenged with ovalbumin (OVA) and the development of AAD was ascertained by examining changes in airway inflammatory responses, Th2 responses, and lung histopathology. | null | null | null |
1 | 0 | Biomarker | C0085084 | Motor Neuron Disease | disease | MND | 10935 | PRDX3 | Prx3 | CTD_human | 16,702,190 | Using quantitative real-time PCR (Q-PCR), we show that Prx3 is also downregulated in spinal motor neurons from patients with both sporadic (sMND) and SOD1-related fMND. | 0.200275 | Using quantitative real-time PCR (Q-PCR), we show that <span class="gene" id="16702190-9-55-59">Prx3</span> is also downregulated in spinal motor neurons from patients with both sporadic (sMND) and SOD1-related f<span class="disease" id="16702190-9-164-167">MND</span>. | CTD_human |
1 | 0 | Biomarker | C0042109 | Urticaria | disease | AIU | 4353 | MPO | MPO | CTD_human | 18,204,966 | Within the AIU groups, significant correlations were noted between the levels of MPO and IL-8, and IL-8 and IL-18. | 0.2 | Within the <span class="disease" id="18204966-6-11-14">AIU</span> groups, significant correlations were noted between the levels of <span class="gene" id="18204966-6-81-84">MPO</span> and IL-8, and IL-8 and IL-18. | CTD_human |
null | null | Negative | MESH:D007029 | null | null | mouse hypothalamus | 18024 | null | Nrf2 | 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:D009369 | null | null | tumor | 723848 | null | miR-34a | null | 28,157,629 | Here, we reported that miR-34a, a tumor suppressor gene, is down-regulated in the K-562 cells and chronic myeloid leukemia (CML) patients due to aberrant DNA hypermethylation. | null | null | null |
null | null | Negative | MESH:D008173 | null | null | vesicular transport obstruction | 4864 | null | NPC1 | null | 28,134,274 | While the plasma membrane proteome remained largely invariable, we observed pronounced alterations in several proteins linked to autophagy and lysosomal catabolism reflecting vesicular transport obstruction and defective lysosomal turnover resulting from NPC1 deficiency. | null | null | null |
2 | 0 | Therapeutic | C0028754 | Obesity | disease | obesity | 26291 | FGF21 | FGF21 | CTD_human | 24,184,811 | Strategies to activate SIRT1 or FGF21 could be used to treat fatty liver disease and obesity. | 0.206593 | Strategies to activate SIRT1 or <span class="gene" id="24184811-18-32-37">FGF21</span> could be used to treat fatty liver disease and <span class="disease" id="24184811-18-85-92">obesity</span>. | CTD_human |
4 | 3 | Biomarker | C0038013 | Ankylosing spondylitis | disease | ankylosing spondylitis | 51752 | ERAP1 | ERAP1 | CTD_human | 21,743,469 | Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. | 0.234483 | Interaction between <span class="gene" id="21743469-0-20-25">ERAP1</span> and HLA-B27 in <span class="disease" id="21743469-0-41-63">ankylosing spondylitis</span> implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. | CTD_human |
null | null | Negative | MESH:D008216 | null | null | lymphocytic choriomeningitis virus | 12504 | null | CD4 | null | 28,003,483 | Here, we immunized mice with Ad5 vectors encoding lymphocytic choriomeningitis virus (LCMV) glycoprotein (GP) and examined GP-specific CD4 T cell responses elicited by Ad5 vectors and compared them to those induced by an acute LCMV infection. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | stable disease | 3479 | null | IGF-I | null | 28,020,518 | IGF-1R staining was evaluated by immunohistochemistry (IHC), and serum free IGF-I, total IGF-II and IGFBP-1 and -3 were measured by ELISA (Beckman Coulter/DSL) at baseline, and studied for correlation with PFS, OS, and stable disease (SD). | null | null | null |
1 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | Bladder cancer | 2954 | GSTZ1 | GSTZ1 | CTD_human | 22,306,368 | Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9; P for trend=0.06) and GSTZ1 Glu32Lys (homozygous; OR=1.3; 95% CI: 0.9-1.8; P for trend=0.06). | 0.200549 | <span class="disease" id="22306368-7-0-14">Bladder cancer</span> risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9; P for trend=0.06) and <span class="gene" id="22306368-7-124-129">GSTZ1</span> Glu32Lys (homozygous; OR=1.3; 95% CI: 0.9-1.8; P for trend=0.06). | CTD_human |
9 | 16 | Biomarker | C0238339 | Hereditary pancreatitis | disease | Hereditary pancreatitis | 5644 | PRSS1 | cationic trypsinogen | CTD_human | 8,841,182 | Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. | 0.628572 | <span class="disease" id="8841182-0-0-23">Hereditary pancreatitis</span> is caused by a mutation in the <span class="gene" id="8841182-0-55-75">cationic trypsinogen</span> gene. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0017658 | Glomerulonephritis | disease | glomerulonephritis | 6354 | CCL7 | MCP-3 | CTD_human | 10,385,480 | We previously reported that the gene expression of six CC chemokines-MCP-1, MCP-3, MIP-1alpha, MIP-1beta, RANTES, and TCA3-was enhanced in a rat model of crescentic glomerulonephritis, the most severe form of glomerulonephritis. | 0.28 | We previously reported that the gene expression of six CC chemokines-MCP-1, <span class="gene" id="10385480-3-76-81">MCP-3</span>, MIP-1alpha, MIP-1beta, RANTES, and TCA3-was enhanced in a rat model of crescentic glomerulonephritis, the most severe form of <span class="disease" id="10385480-3-209-227">glomerulonephritis</span>. | CTD_human |
2 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5465 | PPARA | peroxisome proliferator-activated receptor-alpha | CTD_human | 19,834,340 | Effect of peroxisome proliferator-activated receptor-alpha siRNA on hypertension and renal injury in the rat following nitric oxide withdrawal and high salt diet. | 0.213185 | Effect of <span class="gene" id="19834340-0-10-58">peroxisome proliferator-activated receptor-alpha</span> siRNA on <span class="disease" id="19834340-0-68-80">hypertension</span> and renal injury in the rat following nitric oxide withdrawal and high salt diet. | CTD_human |
1 | 0 | Biomarker | C0040761 | Transposition of Great Vessels | disease | transposition of the great arteries | 55997 | CFC1 | CFC1 | CTD_human | 11,799,476 | CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. | 0.200275 | <span class="gene" id="11799476-0-0-4">CFC1</span> mutations in patients with <span class="disease" id="11799476-0-32-67">transposition of the great arteries</span> and double-outlet right ventricle. | CTD_human |
null | null | Negative | MESH:D007027 | null | null | hypothalamic | 84578 | null | histone deacetylase-3 | null | 28,063,130 | Dexamethasone interfered with forskolin increase in nuclear pCREB and its binding to Trh promoter; antibodies against histone deacetylase-3 precipitated chromatin from nuclear extracts of hypothalamic cells treated with tri-iodothyronine but not with dB-cAMP + dexamethasone, discarding chromatin compaction as responsible mechanism. | null | null | null |
6 | 0 | Biomarker | C0017665 | Membranous glomerulonephritis | disease | membranous nephropathy | 213 | ALB | serum albumin | CTD_human | 17,622,271 | Kinetics of adaptive immunity to cationic bovine serum albumin-induced membranous nephropathy. | 0.201648 | Kinetics of adaptive immunity to cationic bovine <span class="gene" id="17622271-0-49-62">serum albumin</span>-induced <span class="disease" id="17622271-0-71-93">membranous nephropathy</span>. | CTD_human |
2 | 0 | Therapeutic | C0009319 | Colitis | disease | colitis | 3162 | HMOX1 | heme oxygenase 1 | CTD_human | 16,365,149 | Carbon monoxide ameliorates chronic murine colitis through a heme oxygenase 1-dependent pathway. | 0.280824 | Carbon monoxide ameliorates chronic murine <span class="disease" id="16365149-0-43-50">colitis</span> through a <span class="gene" id="16365149-0-61-77">heme oxygenase 1</span>-dependent pathway. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | AD IL-17F deficiency | 84818 | null | IL-17 receptor C | null | 28,090,315 | Four genetic etiologies, AR IL-17 receptor A, IL-17 receptor C and ACT1 deficiencies, and AD IL-17F deficiency, are reported to underlie CMCD. | null | null | null |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | ESCC | 125 | ADH1B | ADH1B | CTD_human | 22,960,999 | We confirmed the known association of the ALDH2 locus on 12q24 to ESCC, and a joint analysis showed that drinkers with both of the ADH1B and ALDH2 risk alleles had a fourfold increased risk for ESCC compared to drinkers without these risk alleles. | 0.20467 | We confirmed the known association of the ALDH2 locus on 12q24 to <span class="disease" id="22960999-4-66-70">ESCC</span>, and a joint analysis showed that drinkers with both of the <span class="gene" id="22960999-4-131-136">ADH1B</span> and ALDH2 risk alleles had a fourfold increased risk for <span class="disease" id="22960999-4-194-198">ESCC</span> compared to drinkers without these risk alleles. | CTD_human |
5 | 0 | Therapeutic | C0029456 | Osteoporosis | disease | osteoporosis | 5741 | PTH | parathyroid hormone | CTD_human | 19,578,808 | Normochromic normocytic anemia in a postmenopausal woman with severe osteoporosis treated with intermittent parathyroid hormone. | 0.291957 | Normochromic normocytic anemia in a postmenopausal woman with severe <span class="disease" id="19578808-0-69-81">osteoporosis</span> treated with intermittent <span class="gene" id="19578808-0-108-127">parathyroid hormone</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 20310 | null | macrophage inflammatory protein 2 | null | 28,115,508 | Quantification of proinflammatory immunomediators in kidney showed that keratinocyte-derived chemokine, macrophage inflammatory protein 2, RANTES, tumor necrosis factor alpha, gamma interferon, and interleukin-10 were upregulated in infected mice. | null | null | null |
null | null | Negative | MESH:D006509 | null | null | hepatitis B | 85348 | null | HBc | null | 28,052,021 | BACKGROUND: Previous studies have revealed that hepatitis B core antibody (anti-HBc) levels vary throughout the different phases of treatment-na ve chronic hepatitis B (CHB) patients and can be used as a predictor of treatment response in both interferon-a and nucleoside analogue therapies. | null | null | null |
1 | 0 | Biomarker | C0013080 | Down Syndrome | disease | Down syndrome | 1827 | RCAN1 | DSCR1 | CTD_human | 15,906,378 | Restoration of DSCR1 to disomy in the trisomy 16 mouse model of Down syndrome does not correct cardiac or craniofacial development anomalies. | 0.227661 | Restoration of <span class="gene" id="15906378-0-15-20">DSCR1</span> to disomy in the trisomy 16 mouse model of <span class="disease" id="15906378-0-64-77">Down syndrome</span> does not correct cardiac or craniofacial development anomalies. | CTD_human |
2 | 0 | Therapeutic | C0002622 | Amnesia | disease | amnesia | 4803 | NGF | NGF | CTD_human | 19,694,610 | As shown by the passive avoidance reflex (PAR) test, the intravenous administration of the nanoparticle-bound NGF successfully reversed scopolamine-induced amnesia and improved recognition and memory. | 0.200275 | As shown by the passive avoidance reflex (PAR) test, the intravenous administration of the nanoparticle-bound <span class="gene" id="19694610-8-110-113">NGF</span> successfully reversed scopolamine-induced <span class="disease" id="19694610-8-156-163">amnesia</span> and improved recognition and memory. | CTD_human |
1 | 0 | Biomarker | C0017658 | Glomerulonephritis | disease | glomerulonephritis | 6346 | CCL1 | TCA3 | CTD_human | 10,385,480 | We previously reported that the gene expression of six CC chemokines-MCP-1, MCP-3, MIP-1alpha, MIP-1beta, RANTES, and TCA3-was enhanced in a rat model of crescentic glomerulonephritis, the most severe form of glomerulonephritis. | 0.2 | We previously reported that the gene expression of six CC chemokines-MCP-1, MCP-3, MIP-1alpha, MIP-1beta, RANTES, and <span class="gene" id="10385480-3-118-122">TCA3</span>-was enhanced in a rat model of crescentic glomerulonephritis, the most severe form of <span class="disease" id="10385480-3-209-227">glomerulonephritis</span>. | CTD_human |
5 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 4893 | NRAS | NRAS | CTD_human | 23,432,625 | The mutations, such as those in NRAS, BRAF, GNAQ and GNA11, promote the growth of melanoma cells in most part through the mitogen-activated protein kinase (MAPK) pathway. | 0.528159 | The mutations, such as those in <span class="gene" id="23432625-2-32-36">NRAS</span>, BRAF, GNAQ and GNA11, promote the growth of <span class="disease" id="23432625-2-82-90">melanoma</span> cells in most part through the mitogen-activated protein kinase (MAPK) pathway. | CTD_human;HPO |
null | null | Negative | MESH:D009369 | null | null | cancer | 228026;18604;236900;27273 | null | PDK1-4 | null | 28,085,286 | Pyruvate dehydrogenase kinases 1-4 (PDK1-4) negatively control activity of the pyruvate dehydrogenase complex (PDC) and are up-regulated in obesity, diabetes, heart failure, and cancer. | null | null | null |
2 | 1 | Biomarker | C0004238 | Atrial Fibrillation | disease | atrial fibrillation | 857 | CAV1 | CAV1 | CTD_human | 20,062,060 | Five of the loci, SCN5A, SCN10A, NKX2-5, CAV1-CAV2, and SOX5, were also associated with atrial fibrillation (N = 5,741 cases, P < 0.0056). | 0.202473 | Five of the loci, SCN5A, SCN10A, NKX2-5, <span class="gene" id="20062060-6-41-45">CAV1</span>-CAV2, and SOX5, were also associated with <span class="disease" id="20062060-6-88-107">atrial fibrillation</span> (N = 5,741 cases, P < 0.0056). | CTD_human |
1 | 0 | Biomarker | C0011881 | Diabetic Nephropathy | disease | diabetic nephropathy | 9370 | ADIPOQ | adiponectin | 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. | 0.213525 | These complimentary approaches have demonstrated that polymorphisms in the carnosinase 1 gene on chromosome 18q, the <span class="gene" id="17942768-5-117-128">adiponectin</span> 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 |
4 | 28 | Biomarker | C0392475 | Roberts-SC phocomelia syndrome | disease | Roberts syndrome | 157570 | ESCO2 | ESCO2 | CTD_human | 18,186,147 | Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. | 0.60467 | Prenatal diagnosis of <span class="disease" id="18186147-0-22-38">Roberts syndrome</span> and detection of an <span class="gene" id="18186147-0-59-64">ESCO2</span> frameshift mutation in a Pakistani family. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D009369 | null | null | neuroendocrine tumor | 100508689 | null | mucin | null | 28,138,632 | Staining from the biopsy resulted in cells reactive for synaptophysin, chromogranin, anti-Cytokeratin (CAM 5.2), MOC31, CD 56 and mucin glycoprotein (MUC) confirming a nonsecretory neuroendocrine tumor. | null | null | null |
null | null | Negative | MESH:D009203 | null | null | post-MI | 24887 | null | Bax | null | 28,181,211 | Hypertrophic parameters, left ventricular (LV) remodelling, and gene expression of Apel, apelin receptor (Apelr), Bax, caspase-3 (Casp-3), and Bcl-2 by real-time polymerase chain reaction and cardiomyocytes apoptosis by TUNEL immunostaining were assessed on day 14 post-MI. | null | null | null |
1 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | autism spectrum disorders | 2969 | GTF2I | GTF2i | CTD_human | 22,048,961 | Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. | 0.200275 | Association of <span class="gene" id="22048961-0-15-20">GTF2i</span> in the Williams-Beuren syndrome critical region with <span class="disease" id="22048961-0-74-99">autism spectrum disorders</span>. | CTD_human |
1 | 0 | Biomarker | C0003864 | Arthritis | disease | arthritis | 1314 | COPA | COPA | CTD_human | 25,894,502 | COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. | 0.200275 | <span class="gene" id="25894502-0-0-4">COPA</span> mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and <span class="disease" id="25894502-0-99-108">arthritis</span>. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | Inherited deficiency | 14420 | null | GALC | null | 28,000,364 | Inherited deficiency in GALC causes Krabbe disease, a devastating neurological disorder characterized by accumulation of galactosylceramide and its deacylated counterpart, the toxic sphingoid base galactosylsphingosine (psychosine). | null | null | null |
28 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 238 | ALK | ALK | CTD_human | 21,904,575 | Genotype-driven therapies for non-small cell lung cancer: focus on EGFR, KRAS and ALK gene abnormalities. | 0.28 | Genotype-driven therapies for <span class="disease" id="21904575-0-30-56">non-small cell lung cancer</span>: focus on EGFR, KRAS and <span class="gene" id="21904575-0-82-85">ALK</span> gene abnormalities. | CTD_human |
4 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 590 | BCHE | BCHE | CTD_human | 23,000,450 | -116A and K BCHE gene variants associated with obesity and hypertriglyceridemia in adolescents from Southern Brazil. | 0.20488 | -116A and K <span class="gene" id="23000450-0-12-16">BCHE</span> gene variants associated with <span class="disease" id="23000450-0-47-54">obesity</span> and hypertriglyceridemia in adolescents from Southern Brazil. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 6772;6774 | null | STAT1 and -3 | null | 28,094,337 | Here, we report that glial STAT1 and -3 are distinctively phosphorylated following the interaction of activated lymphocytes and glia, and this effect is significantly inhibited by glatiramer acetate (GA), a disease-modifying drug for MS. GA also reduces the activations of STAT1 and -3 by MS-associated stimuli such as IFNy or LPS in primary glia, but not neurons. | null | null | null |
1 | 0 | Biomarker | C0023896 | Alcoholic Liver Diseases | group | alcoholic liver disease | 6696 | SPP1 | OPN | CTD_human | 18,703,563 | Osteopontin (OPN) up-regulation is known to mediate hepatic inflammation in a rodent model of alcoholic liver disease (ALD) and alcohol ingestion is reported to inhibit hepatic peroxisome proliferator-activated receptor-alpha (PPAR-alpha) activity leading to hepatic steatosis and inflammation. | 0.200824 | <span class="gene" id="18703563-1-0-11">Osteopontin</span> (<span class="gene" id="18703563-1-13-16">OPN</span>) up-regulation is known to mediate hepatic inflammation in a rodent model of <span class="disease" id="18703563-1-94-117">alcoholic liver disease</span> (ALD) and alcohol ingestion is reported to inhibit hepatic peroxisome proliferator-activated receptor-alpha (PPAR-alpha) activity leading to hepatic steatosis and inflammation. | CTD_human |
null | null | Negative | MESH:D009135 | null | null | IMT | 1056826 | null | SE=0.004 | null | 28,023,947 | Pts with Raynaud's phenomenon had a higher age-related IMT increase (Raynaud: b=0.12 [SE=0.004], P=0.009; no Raynaud: b=0.006 [SE=0.002], P=0.002). | null | null | null |
2 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 1471 | CST3 | CST3 | CTD_human | 17,192,785 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | 0.266178 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential <span class="disease" id="17192785-5-113-130">Alzheimer disease</span> susceptibility genes (ACE, CHRNB2, <span class="gene" id="17192785-5-166-170">CST3</span>, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | CTD_human |
2 | 2 | Biomarker | C1836383 | SPINOCEREBELLAR ATAXIA 27 | disease | SCA27 | 2259 | FGF14 | FGF14 | CTD_human | 26,089,778 | These results provide evidence of a critical role of FGF14 in maintaining presynaptic function at PF-Purkinje neuron synapses highlighting critical target mechanisms to recapitulate the complexity of the SCA27 disease. | 0.680275 | These results provide evidence of a critical role of <span class="gene" id="26089778-9-53-58">FGF14</span> in maintaining presynaptic function at PF-Purkinje neuron synapses highlighting critical target mechanisms to recapitulate the complexity of the <span class="disease" id="26089778-9-204-209">SCA27</span> disease. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D030342 | null | null | GO | 26330 | null | GAPDHS | null | 28,021,057 | Four genes from the two top GO categories, GAPDHS, GAPDH, PKM2 and TYRP1, were selected for validation. | null | null | null |
null | null | Negative | MESH:D014388 | null | null | axillary lymph nodes | 4582 | null | CA15 -3 | null | 28,112,378 | However, the significance of Twist1 in axillary lymph nodes (ALN) and CA15 -3 for co -examination for survival rates remains to be elucidated. | null | null | null |
null | null | Negative | MESH:D006406 | null | null | hematoma | 25641 | null | IGFBP-6 | null | 28,044,240 | We obtained a significant upregulation of IGFBP-6 in neurons adjacent to the hematoma following ICH with the results of Western blot, immunohistochemistry, and immunofluorescence. | null | null | null |
null | null | Negative | MESH:D005909 | null | null | glioblastoma | 20230 | null | SATB1 | null | 28,049,521 | While in many tumor entities SATB1 overexpression has been observed and connected to pro-tumorigenic processes, somewhat contradictory evidence exists in brain tumors with regard to SATB1 overexpression in glioblastoma and its association with poorer prognosis and tumor progression. | null | null | null |
3 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 3690 | ITGB3 | ITGB3 | CTD_human | 17,203,304 | Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. | 0.217017 | Evidence for epistasis between SLC6A4 and <span class="gene" id="17203304-0-42-47">ITGB3</span> in <span class="disease" id="17203304-0-51-57">autism</span> etiology and in the determination of platelet serotonin levels. | CTD_human |
null | null | Negative | MESH:C536657 | null | null | FHF | 14419 | null | GalN | null | 28,115,012 | This study aimed to investigate the therapeutic potential of MenSC-derived exosomes (MenSC-Ex) on AML12 cells (in vitro) and D-GalN/LPS-induced FHF mice (in vivo). | null | null | null |
null | null | Negative | MESH:D002524 | null | null | spongy degeneration with cerebellar ataxia 1 | 3766 | null | KCNJ10 | null | 28,007,838 | Therefore, we consider KCNJ10:c.986T>C the most likely candidate causative variant for one subtype of SDCA in Malinois dogs, which we propose to term spongy degeneration with cerebellar ataxia 1 (SDCA1). | null | null | null |
null | null | Negative | MESH:D012173 | null | null | retinal ganglion | 94233 | null | melanopsin | null | 28,160,289 | UNASSIGNED: Intrinsically photosensitive retinal ganglion cells (ipRGCs) expressing the photopigment melanopsin belong to a heterogenic population of RGCs which regulate the circadian clock, masking behavior, melatonin suppression, the pupillary light reflex and sleep/wake cycles. | null | null | null |
null | null | Negative | MESH:D004342 | null | null | hypersensitivity | 55985 | null | CXCL13 | null | 28,155,010 | Furthermore, intra-TG injection of CXCL13 evoked mechanical hypersensitivity and increased p-p38 expression in WT mice. | null | null | null |
null | null | Negative | MESH:D007238 | null | null | infarct | 29260 | null | TLR4 | null | 28,152,042 | Pregabalin-treated rats showed significantly improved neurological function (31% decrease in score), reduced infarct size (by 33%), fewer apoptotic cells (by 63%), and lower expression levels of HMGB1, TLR4, p-NF-kB, IL-1b, and TNF- a, compared with control rats. | null | null | null |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | EPO | CTD_human | 7,529,132 | Intricate dose-response surfaces of the effects of the different treatments on colony-forming units-erythroid, reticulocytes, hematocrit, colony-forming units-granulocyte/macrophage, and absolute neutrophil count were obtained, which revealed that: (a) simultaneous EPO administration was able to maintain reticulocyte production and to protect mice from VP-16 induced anemia; (b) simultaneous G-CSF administration was able to maintain granulocyte production and to protect mice from VP-16 induced neutropenia; (c) VP-16 dose escalation was feasible when EPO or G-CSF were simultaneously administered; and (d) no increased myelotoxicity on erythroid or granuloid progenitors was observed when EPO or G-CSF was simultaneously administered with VP-16. | 0.24092 | Intricate dose-response surfaces of the effects of the different treatments on colony-forming units-erythroid, reticulocytes, hematocrit, colony-forming units-granulocyte/macrophage, and absolute neutrophil count were obtained, which revealed that: (a) simultaneous <span class="gene" id="7529132-4-266-269">EPO</span> administration was able to maintain reticulocyte production and to protect mice from VP-16 induced <span class="disease" id="7529132-4-369-375">anemia</span>; (b) simultaneous G-CSF administration was able to maintain granulocyte production and to protect mice from VP-16 induced neutropenia; (c) VP-16 dose escalation was feasible when <span class="gene" id="7529132-4-555-558">EPO</span> or G-CSF were simultaneously administered; and (d) no increased myelotoxicity on erythroid or granuloid progenitors was observed when <span class="gene" id="7529132-4-693-696">EPO</span> or G-CSF was simultaneously administered with VP-16. | CTD_human |
1 | 0 | Biomarker | C0080178 | Spina Bifida | disease | spina bifida | 6347 | CCL2 | monocyte chemoattractant protein 1 | CTD_human | 16,596,675 | Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspring. | 0.200275 | Maternal genotype for the <span class="gene" id="16596675-0-26-60">monocyte chemoattractant protein 1</span> A(-2518)G promoter polymorphism is associated with the risk of <span class="disease" id="16596675-0-124-136">spina bifida</span> in offspring. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anaemia | 2056 | EPO | epoetin | CTD_human | 16,970,600 | We retrospectively analysed the incidence of anaemia, RBV dose reduction and epoetin-alpha (EPO) use among coinfected patients treated with PEG-IFN and weight-based RBV (800-1400 mg/day) who enrolled in two clinical trials and had haemoglobin (Hb) levels assessed at baseline and after 4 and/or 12 weeks of HCV treatment. | 0.24092 | We retrospectively analysed the incidence of <span class="disease" id="16970600-3-45-52">anaemia</span>, RBV dose reduction and <span class="gene" id="16970600-3-77-84">epoetin</span>-alpha (EPO) use among coinfected patients treated with PEG-IFN and weight-based RBV (800-1400 mg/day) who enrolled in two clinical trials and had haemoglobin (Hb) levels assessed at baseline and after 4 and/or 12 weeks of HCV treatment. | CTD_human |
null | null | Negative | OMIM:604588 | null | null | mitosis | 2321 | null | VEGFR1 | null | 28,004,478 | CS2164 inhibited the angiogenesis-related kinases (VEGFR2, VEGFR1, VEGFR3, PDGFRa and c-Kit), mitosis-related kinase Aurora B and chronic inflammation-related kinase CSF-1R in a high potency manner with the IC50 at a single-digit nanomolar range. | null | null | null |
null | null | Negative | MESH:D008107 | null | null | hepatic dysfunction | 24185 | null | Akt | null | 28,142,314 | CONTEXT: Metformin attenuates type-2 diabetes mellitus (T2DM)-induced hepatic dysfunction and altered PI3K/Akt/GLUT-4 signalling in experimental studies. | null | null | null |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | ESCC | 645 | BLVRB | BLVRB | CTD_human | 21,517,111 | Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in ESCC. | 0.2 | Among these identified proteins, 33 proteins including keratin 17 (KRT17), <span class="gene" id="21517111-5-75-97">biliverdin reductase B</span> (<span class="gene" id="21517111-5-99-104">BLVRB</span>), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in <span class="disease" id="21517111-5-500-504">ESCC</span>. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast tumor | 13601 | null | P85-SLN | null | 28,027,535 | UNASSIGNED: This work aimed to develop hyaluronic acid (HA) decorated pluronic 85 (P85) coated solid lipid nanoparticles (SLN) loaded with paclitaxel (HA-PTX-P85-SLN) and to evaluate its potential to overcome drug resistance and to increase antitumor efficacy in mice bearing cervical and breast tumor. | null | null | null |
null | null | Negative | MESH:D009084 | null | null | HS | 462 | null | HS 3-O-sulphotransferase 1 and antithrombin | null | 28,106,177 | The array was probed with two glycan-binding proteins, HS 3-O-sulphotransferase 1 and antithrombin, demonstrating the binding selectivity between HS and proteins. | null | null | null |
null | null | Negative | MESH:D050723 | null | null | fracture | 29373 | null | BMP-2 | null | 28,017,615 | We then showed that alda-1 (40mg/kg dose) augmented bone regeneration at the fracture site with concomitant increase in BMP-2 protein compared with control. | null | null | null |
1 | 0 | Biomarker | C0149721 | Left Ventricular Hypertrophy | disease | left ventricular hypertrophy | 186 | AGTR2 | angiotensin II type 2 receptor | CTD_human | 20,467,270 | Role of the angiotensin II type 2 receptor gene (+1675G/A) polymorphism on left ventricular hypertrophy and geometry in treated hypertensive patients. | 0.218926 | Role of the <span class="gene" id="20467270-0-12-42">angiotensin II type 2 receptor</span> gene (+1675G/A) polymorphism on <span class="disease" id="20467270-0-75-103">left ventricular hypertrophy</span> and geometry in treated hypertensive patients. | CTD_human |
2 | 0 | Therapeutic | C0020452 | Hyperemia | disease | hyperemia | 6863 | TAC1 | Substance P | CTD_human | 10,564,113 | Substance P may attenuate gastric hyperemia by a mast cell-dependent mechanism in the damaged gastric mucosa. | 0.2 | <span class="gene" id="10564113-0-0-11">Substance P</span> may attenuate gastric <span class="disease" id="10564113-0-34-43">hyperemia</span> by a mast cell-dependent mechanism in the damaged gastric mucosa. | CTD_human |
1 | 0 | Therapeutic | C0853897 | Diabetic Cardiomyopathies | disease | diabetic cardiomyopathy | 3816 | KLK1 | hKLK1 | CTD_human | 16,129,698 | These diabetic cardiomyopathy-associated alterations were significantly attenuated (P<0.05) in diabetic transgenic rats expressing the human kallikrein 1 (hKLK1) gene with STZ-induced diabetes. | 0.200549 | These <span class="disease" id="16129698-5-6-29">diabetic cardiomyopathy</span>-associated alterations were significantly attenuated (P<0.05) in diabetic transgenic rats expressing the human kallikrein 1 (<span class="gene" id="16129698-5-155-160">hKLK1</span>) gene with STZ-induced diabetes. | CTD_human |
null | null | Negative | MESH:C536751 | null | null | WT | 10011 | null | SR-A1 | null | 28,193,223 | METHODS: To test this hypothesis, C57BL/6 WT and SR-A1 KO mice were nasally instilled with 50 g/mL of SPD-MAA for 3 weeks (wks). | null | null | null |
4 | 0 | Biomarker | C0271694 | Familial partial lipodystrophy | disease | FPL | 4000 | LMNA | lamin A/C | CTD_human | 12,844,477 | Recently, missense mutations of LMNA encoding lamin A/C have been described in FPL providing evidence for a pivotal role of lamin A/C in the regulation of adipocytes. | 0.238599 | Recently, missense mutations of <span class="gene" id="12844477-2-32-36">LMNA</span> encoding <span class="gene" id="12844477-2-46-55">lamin A/C</span> have been described in <span class="disease" id="12844477-2-79-82">FPL</span> providing evidence for a pivotal role of <span class="gene" id="12844477-2-124-133">lamin A/C</span> in the regulation of adipocytes. | CTD_human |
1 | 0 | Therapeutic | C0034069 | Pulmonary Fibrosis | disease | pulmonary fibrosis | 4092 | SMAD7 | Smad 7 | CTD_human | 23,590,892 | Docosahexaenoic acid (DHA) ameliorates paraquat-induced pulmonary fibrosis in rats possibly through up-regulation of Smad 7 and SnoN. | 0.2 | Docosahexaenoic acid (DHA) ameliorates paraquat-induced <span class="disease" id="23590892-0-56-74">pulmonary fibrosis</span> in rats possibly through up-regulation of <span class="gene" id="23590892-0-117-123">Smad 7</span> and SnoN. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | dTGR | CTD_human | 20,429,690 | Untreated dTGR developed severe hypertension as well as cardiac hypertrophy, and showed pronounced cardiovascular mortality compared with normotensive SD rats. | 0.52 | Untreated <span class="gene" id="20429690-6-10-14">dTGR</span> developed severe <span class="disease" id="20429690-6-32-44">hypertension</span> as well as cardiac hypertrophy, and showed pronounced cardiovascular mortality compared with normotensive SD rats. | CTD_human |
1 | 0 | Biomarker | C0026848 | Myopathy | group | myopathy | 5465 | PPARA | PPARalpha | CTD_human | 19,683,050 | This study was designed to investigate the effects of bezafibrate as a PPARalpha agonist on human embryo rhabdomyosarcoma (RD) cells and possible mechanisms responsible for bezafibrate-mediated myopathy. | 0.200275 | This study was designed to investigate the effects of bezafibrate as a <span class="gene" id="19683050-3-71-80">PPARalpha</span> agonist on human embryo rhabdomyosarcoma (RD) cells and possible mechanisms responsible for bezafibrate-mediated <span class="disease" id="19683050-3-194-202">myopathy</span>. | CTD_human |
2 | 0 | Biomarker | C0011849 | Diabetes Mellitus | group | diabetes | 5444 | PON1 | PON1 | CTD_human | 19,022,366 | The PON1 Q/R polymorphism was found to have significant association with hypertension (p=0.046) and chronic constipation (p=0.028) whereas, the L/M polymorphism, with diabetes (p=0.036), arteritis (trend p=0.022) and hemorrhoids (trend p=0.027). | 0.219621 | The <span class="gene" id="19022366-7-4-8">PON1</span> Q/R polymorphism was found to have significant association with hypertension (p=0.046) and chronic constipation (p=0.028) whereas, the L/M polymorphism, with <span class="disease" id="19022366-7-167-175">diabetes</span> (p=0.036), arteritis (trend p=0.022) and hemorrhoids (trend p=0.027). | CTD_human |
null | null | Negative | MESH:D014085 | null | null | migration | 4854 | null | Notch3 | null | 28,004,073 | UNASSIGNED: The aim of this study is to investigate the effects of hypoxia inducible factor-2a (HIF-2a) and Notch3 on CoCl2-induced migration and invasion of human breast cancer cell line MCF-7. | null | null | null |
1 | 0 | Biomarker | C0432228 | Brachyolmia | disease | brachyolmia | 4054 | LTBP3 | LTBP3 | CTD_human | 25,669,657 | Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. | 0.200275 | Mutations in the <span class="gene" id="25669657-0-17-50">latent TGF-beta binding protein 3</span> (<span class="gene" id="25669657-0-52-57">LTBP3</span>) gene cause <span class="disease" id="25669657-0-70-81">brachyolmia</span> with amelogenesis imperfecta. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | masseter inflammation | 81739 | null | P2X3 | null | 28,051,277 | AIM: To determine the relationship between bilateral allodynia induced by masseter inflammation and P2X3 receptor expression changes in trigeminal ganglia (TRG) and the influence of intramasseteric P2X3 antagonist administration on bilateral masseter allodynia. | null | null | null |
2 | 0 | Biomarker | C0007370 | Catalepsy | disease | Catalepsy | 5443 | POMC | Met-enkephalin | CTD_human | 2,999,739 | Catalepsy, hypermotility, increase of striatal acetylcholine release induced by morphine and Met-enkephalin as affected by prolonged hydrocortisone and ACTH treatment. | 0.2 | <span class="disease" id="2999739-0-0-9">Catalepsy</span>, hypermotility, increase of striatal acetylcholine release induced by morphine and <span class="gene" id="2999739-0-93-107">Met-enkephalin</span> as affected by prolonged hydrocortisone and ACTH treatment. | CTD_human |
null | null | Negative | MESH:D008288 | null | null | malaria | 11061 | null | CHMI | null | 28,081,133 | Controlled human malaria infection (CHMI) in healthy human volunteers is an important and powerful tool in clinical malaria vaccine development. | null | null | null |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 3156 | HMGCR | 3-hydroxy-3-methylglutaryl-coenzyme A reductase | CTD_human | 9,207,284 | Protein and messenger RNA (mRNA) levels for both G6PD and malic enzyme increased in hyperplastic livers and HCC. mRNA levels for 3-hydroxy-3-methylglutaryl-coenzyme A reductase decreased in hyperplasia and increased in HCC, whereas low-density lipoprotein receptor mRNA increased in hyperplasia and decreased in HCC. | 0.201374 | Protein and messenger RNA (mRNA) levels for both G6PD and malic enzyme increased in hyperplastic livers and <span class="disease" id="9207284-7-108-111">HCC</span>. mRNA levels for <span class="gene" id="9207284-7-129-176">3-hydroxy-3-methylglutaryl-coenzyme A reductase</span> decreased in hyperplasia and increased in <span class="disease" id="9207284-7-219-222">HCC</span>, whereas low-density lipoprotein receptor mRNA increased in hyperplasia and decreased in <span class="disease" id="9207284-7-312-315">HCC</span>. | CTD_human |