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2 | 0 | Therapeutic | C0003873 | Rheumatoid Arthritis | disease | RA | 3557 | IL1RN | interleukin-1 receptor antagonist | CTD_human | 7,706,905 | Human recombinant interleukin-1 receptor antagonist (rhIL-1ra), a 17.2 kd protein is currently in clinical trials for the treatment of rheumatoid arthritis (RA). | 0.259349 | Human recombinant <span class="gene" id="7706905-1-18-51">interleukin-1 receptor antagonist</span> (rhIL-1ra), a 17.2 kd protein is currently in clinical trials for the treatment of <span class="disease" id="7706905-1-135-155">rheumatoid arthritis</span> (<span class="disease" id="7706905-1-157-159">RA</span>). | CTD_human |
null | null | Negative | MESH:D008545 | null | null | melanoma | 20296 | null | CCL2 | null | 28,202,513 | Notably, MDSC restoration relied upon MAPK pathway reactivation and downstream production of the myeloid attractant CCL2 in BRAFi-resistant melanoma cells. | null | null | null |
5 | 0 | Biomarker | C0001973 | Alcoholic Intoxication, Chronic | disease | alcoholism | 6869 | TACR1 | TACR1 | CTD_human | 19,204,064 | Four single-nucleotide polymorphisms (rs3771829, rs3771833, rs3771856, and rs1701137) at the TACR1 gene, previously known to be associated with bipolar disorder or alcoholism, were strongly associated with ADHD. | 0.403781 | Four single-nucleotide polymorphisms (rs3771829, rs3771833, rs3771856, and rs1701137) at the <span class="gene" id="19204064-9-93-98">TACR1</span> gene, previously known to be associated with bipolar disorder or <span class="disease" id="19204064-9-164-174">alcoholism</span>, were strongly associated with ADHD. | CTD_human;PSYGENET |
null | null | Negative | MESH:D002544 | null | null | ischemic stroke | 100128998 | null | tissue plasminogen activator | null | 28,079,666 | Clinical evidence supports prompt IV tissue plasminogen activator administration after onset of ischemic stroke. | null | null | null |
null | null | Negative | MESH:D018455 | null | null | GST-T | 2877 | null | GPX2 | null | 28,043,022 | The transcriptional responses of GST-T, GPX2 and GPX4 upon pyrene exposure were minimal. | null | null | null |
null | null | Negative | MESH:C562592 | null | null | XPF | 672 | null | BRCA1 | null | 28,021,978 | METHODS: International Adjuvant Lung Cancer Trial (IALT) NSCLC FFPE patient specimens constructed on TMAs were stained by IHC for DNA repair biomarkers: ATM, MSH2, ERCC1, p53, pMK2, PARP1, BRCA1, XPF. | null | null | null |
null | null | Negative | MESH:C536631 | null | null | GalNAc-T6 | 8693 | null | GalNAc-T4 | null | 28,053,144 | Three of these GalNAc-Ts (GalNAc-T1, GalNAc-T4 and GalNAc-T6) were transfected into HEK293T cells to examine their impact on Ab production. | null | null | null |
null | null | Negative | MESH:D008545 | null | null | melanoma | 14083 | null | focal adhesion kinase | null | 28,007,596 | Here we find that TRCs exhibit lower focal adhesion kinase (FAK) and H3K9 methylation levels in soft fibrin matrices than control melanoma cells on 2D rigid substrates. | null | null | null |
1 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 196 | AHR | Ahr | CTD_human | 21,115,475 | We also report that Ahr- and Vav3-deficient mice display hypertension, tachypnea, and sympathoexcitation. | 0.200275 | We also report that <span class="gene" id="21115475-6-20-23">Ahr</span>- and Vav3-deficient mice display <span class="disease" id="21115475-6-57-69">hypertension</span>, tachypnea, and sympathoexcitation. | CTD_human |
null | null | Negative | MESH:D007035 | null | null | hypothermia | 21898 | null | LPS | null | 28,139,962 | RESULTS: An intra-amniotic injection of LPS resulted in preterm labor/birth [LPS 80 24.79% (8/10) versus PBS 0% (0/8); p = 0.001] without causing maternal hypothermia. | null | null | null |
null | null | Negative | MESH:C537429 | null | null | arhinia | 497282 | null | smchd1 | null | 28,067,909 | CRISPR/Cas9-mediated alteration of smchd1 in zebrafish yielded arhinia-relevant phenotypes. | null | null | null |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | esophageal squamous cell carcinoma | 25816 | TNFAIP8 | TNFAIP8 | CTD_human | 21,969,086 | TNFAIP8 overexpression: clinical relevance to esophageal squamous cell carcinoma. | 0.200275 | <span class="gene" id="21969086-0-0-7">TNFAIP8</span> overexpression: clinical relevance to <span class="disease" id="21969086-0-46-80">esophageal squamous cell carcinoma</span>. | CTD_human |
null | null | Negative | OMIM:135300 | null | null | HGF | 3569 | null | IL-6 | null | 28,023,369 | Plasma CAF analyses from phase II and III studies previously identified candidates (HGF, IL-6, IL-8, TIMP-1, VEGF, E-Selectin and OPN) that significantly correlated with PFS for patients receiving pazopanib (ASCO 2010, #4522). | null | null | null |
null | null | Negative | MESH:D014376 | null | null | tuberculosis | 886191 | null | Rv3872 | null | 28,043,633 | METHODS: DNA corresponding to the genes Rv3891, Rv3020, Rv0287, Rv3875, Rv3874, Rv3872, Rv2346c, and Rv3619 were PCR-amplified from M. tuberculosis genomic DNA and visualized on gel electrophoresis at the expected DNA size. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 24494 | null | interleukin (IL)-1b | null | 28,011,263 | Sciatic nerves from CCI rats revealed that PAE potentiated the proinflammatory cytokines interleukin (IL)-1b, IL-6 and tumor necrosis factor-alpha (TNFa) protein levels with a simultaneous robust suppression of the anti-inflammatory cytokine, IL-10. | null | null | null |
null | null | Negative | MESH:D055371 | null | null | ALI | 17523 | null | myeloperoxidase | null | 28,043,040 | RESULTS: The myeloperoxidase (MPO) activity and fibrinogen deposits in the lung tissue significantly decreased and the lung damage in ALI mouse was attenuated. | null | null | null |
3 | 0 | Biomarker | C0036341 | Schizophrenia | disease | SZ | 1739 | DLG1 | DLG1 | CTD_human | 20,691,406 | Moreover, this 3q29 deletion region contains two linkage peaks from prior SZ family studies, and the minimal deletion interval implicates 20 annotated genes, including PAK2 and DLG1, both paralogous to X-linked ID genes and now strong candidates for SZ susceptibility. | 0.206462 | Moreover, this 3q29 deletion region contains two linkage peaks from prior <span class="disease" id="20691406-8-74-76">SZ</span> family studies, and the minimal deletion interval implicates 20 annotated genes, including PAK2 and <span class="gene" id="20691406-8-177-181">DLG1</span>, both paralogous to X-linked ID genes and now strong candidates for <span class="disease" id="20691406-8-250-252">SZ</span> susceptibility. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 19822 | null | RNF4 | null | 28,143,738 | These findings suggest that the UBC9/PML/RNF4 axis plays a critical role as an important SUMO pathway in cardiac fibrosis. | null | null | null |
2 | 0 | Biomarker | C0079774 | Peripheral T-Cell Lymphoma | disease | PTCL | 3418 | IDH2 | IDH2 | CTD_human | 24,413,734 | These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples. | 0.201099 | These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and <span class="gene" id="24413734-3-91-95">IDH2</span> as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) <span class="disease" id="24413734-3-274-278">PTCL</span>, not otherwise specified (<span class="disease" id="24413734-3-305-309">PTCL</span>-NOS) samples. | CTD_human |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 10562 | OLFM4 | OLFM-4 | CTD_human | 21,048,224 | The role of OLFM-4 in endometrial tissue remodeling before the secretory phase and during the predisposition and early events in endometriosis can be postulated but requires additional investigation. | 0.200275 | The role of <span class="gene" id="21048224-11-12-18">OLFM-4</span> in endometrial tissue remodeling before the secretory phase and during the predisposition and early events in <span class="disease" id="21048224-11-129-142">endometriosis</span> can be postulated but requires additional investigation. | CTD_human |
2 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 6462 | SHBG | SHBG | CTD_human | 17,992,261 | This provides a biological explanation for why SHBG is a sensitive biomarker of the metabolic syndrome and the metabolic disturbances associated with increased fructose consumption. | 0.203571 | This provides a biological explanation for why <span class="gene" id="17992261-8-47-51">SHBG</span> is a sensitive biomarker of the <span class="disease" id="17992261-8-84-102">metabolic syndrome</span> and the metabolic disturbances associated with increased fructose consumption. | CTD_human |
null | null | Negative | MESH:D006402 | null | null | cytopenias | 4961449 | null | interleukin-6 | null | 28,087,540 | Human herpesvirus-8 (HHV-8)-negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. | null | null | null |
4 | 0 | Therapeutic | C0009319 | Colitis | disease | colitis | 3586 | IL10 | IL-10 | CTD_human | 19,238,344 | Loss of iNOS, studied using iNOS(-/-) mice in both TNBS-induced and IL-10(-/-) colitis models, significantly attenuated the colitis-related WISP-1 increase. | 0.304436 | Loss of iNOS, studied using iNOS(-/-) mice in both TNBS-induced and <span class="gene" id="19238344-6-68-73">IL-10</span>(-/-) <span class="disease" id="19238344-6-79-86">colitis</span> models, significantly attenuated the <span class="disease" id="19238344-6-124-131">colitis</span>-related WISP-1 increase. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 14257 | null | VEGFR-3 | null | 28,022,984 | UNASSIGNED: TPS150 Background: Vascular Endothelial Growth Factor Receptor-3 (VEGFR-3) and its ligands, VEGF-C and VEGF-D, control tumor lymphangiogenesis by enhancing proliferation and survival of lymphatic endothelial cells. | null | null | null |
3 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 4846 | NOS3 | eNOS | CTD_human | 12,947,532 | We wondered, whether eNOS deficiency in mice is associated with a phenotype mimicking the human metabolic syndrome. | 0.223927 | We wondered, whether <span class="gene" id="12947532-3-21-25">eNOS</span> deficiency in mice is associated with a phenotype mimicking the human <span class="disease" id="12947532-3-96-114">metabolic syndrome</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 24186 | null | albumin | null | 28,006,753 | Since cachexia is known to produce severe inflammation, malnutrition and inhibition of albumin gene expression, we have also monitored the total proteins, albumin, TNF-a and IL-6 levels in arthritic rats and its modulation by agmatine. | null | null | null |
3 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 940 | CD28 | CD28 | CTD_human | 19,898,481 | Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. | 0.218471 | Genetic variants at <span class="gene" id="19898481-0-20-24">CD28</span>, PRDM1 and CD2/CD58 are associated with <span class="disease" id="19898481-0-65-85">rheumatoid arthritis</span> risk. | CTD_human |
null | null | Negative | MESH:D009203 | null | null | myocardial infarction | 406980 | null | miR-19b | null | 28,213,977 | Moreover, there exists a strong positive correlation between miR-19b and PAI-1 in patients suffering from ST-elevated myocardial infarction. | null | null | null |
1 | 0 | Biomarker | C0018798 | Congenital Heart Defects | group | congenital heart defect | 859 | CAV3 | CAV3 | CTD_human | 21,082,655 | Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features. | 0.2 | Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the <span class="disease" id="21082655-6-134-157">congenital heart defect</span>, autistic behavior and mental retardation (<span class="gene" id="21082655-6-201-205">CAV3</span>, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features. | CTD_human |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | SCC | 90417 | KNSTRN | KNSTRN | CTD_human | 25,194,279 | These findings suggest a role for KNSTRN mutagenesis in SCC development. | 0.200275 | These findings suggest a role for <span class="gene" id="25194279-3-34-40">KNSTRN</span> mutagenesis in <span class="disease" id="25194279-3-56-59">SCC</span> development. | CTD_human |
1 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 19 | ABCA1 | ABCA1 | CTD_human | 22,022,523 | ABCA1 protects against atherosclerosis by facilitating cholesterol efflux from macrophage foam cells in the arterial wall to extracellular apolipoprotein (apo) A-I. | 0.266757 | <span class="gene" id="22022523-1-0-5">ABCA1</span> protects against <span class="disease" id="22022523-1-23-38">atherosclerosis</span> by facilitating cholesterol efflux from macrophage foam cells in the arterial wall to extracellular apolipoprotein (apo) A-I. | CTD_human |
6 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 27436 | EML4 | echinoderm microtubule-associated protein-like 4 | CTD_human | 21,767,331 | Favorable response to crizotinib in three patients with echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase fusion-type oncogene-positive non-small cell lung cancer. | 0.236264 | Favorable response to crizotinib in three patients with <span class="gene" id="21767331-0-56-104">echinoderm microtubule-associated protein-like 4</span>-anaplastic lymphoma kinase fusion-type oncogene-positive <span class="disease" id="21767331-0-162-188">non-small cell lung cancer</span>. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 1268 | CNR1 | CB1 | CTD_human | 18,722,357 | In obese Zucker rats, a significant decrease in CB1 receptor levels, measured by western blot, was observed in brain cortex after fluoxetine treatment. | 0.234785 | In <span class="disease" id="18722357-6-3-8">obese</span> Zucker rats, a significant decrease in <span class="gene" id="18722357-6-48-51">CB1</span> receptor levels, measured by western blot, was observed in brain cortex after fluoxetine treatment. | CTD_human |
1 | 0 | Therapeutic | C0266999 | Vesicular Stomatitis | disease | Vesicular Stomatitis | 10919 | EHMT2 | EHMT2 | CTD_human | 26,418,342 | Inhibition of EHMT2 Induces a Robust Antiviral Response Against Foot-and-Mouth Disease and Vesicular Stomatitis Virus Infections in Bovine Cells. | 0.2 | Inhibition of <span class="gene" id="26418342-0-14-19">EHMT2</span> Induces a Robust Antiviral Response Against Foot-and-Mouth Disease and <span class="disease" id="26418342-0-91-111">Vesicular Stomatitis</span> Virus Infections in Bovine Cells. | CTD_human |
2 | 0 | Biomarker | C0004096 | Asthma | disease | bronchial asthma | 217 | ALDH2 | ALDH-2 | CTD_human | 11,506,308 | Since bronchial asthma patients who are homozygous for mutant ALDH-2 genes are susceptible to acute severe alcohol-induced asthma attacks, strict clinical attention is thought a necessity. | 0.206462 | Since <span class="disease" id="11506308-5-6-22">bronchial asthma</span> patients who are homozygous for mutant <span class="gene" id="11506308-5-62-68">ALDH-2</span> genes are susceptible to acute severe alcohol-induced asthma attacks, strict clinical attention is thought a necessity. | CTD_human |
1 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2D | 5066 | PAM | PAM | CTD_human | 24,464,100 | In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)). | 0.200275 | In addition, two missense variants in <span class="gene" id="24464100-4-38-41">PAM</span>, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of <span class="disease" id="24464100-4-156-159">T2D</span> (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of <span class="disease" id="24464100-4-341-344">T2D</span> (OR = 2.27, P = 7.3 × 10(-7)). | CTD_human |
1 | 0 | Biomarker | C0031511 | Pheochromocytoma | disease | PHEO | 7054 | TH | tyrosine hydroxylase | CTD_human | 22,569,243 | At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine ?-hydroxylase, much more expressed in tumor tissue. | 0.203571 | At both the protein and mRNA levels, MAOA and COMT are detected less often in <span class="disease" id="22569243-9-78-82">PHEO</span> compared with adrenal medulla, conversely to <span class="gene" id="22569243-9-128-148">tyrosine hydroxylase</span>, L-amino acid decarboxylase, and dopamine β-hydroxylase, much more expressed in tumor tissue. | CTD_human |
20 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | APL | 5371 | PML | PML | CTD_human | 16,835,227 | Thus, by fusing PML with RARalpha, the APL cells appear to have achieved functional suppression of Chk2 compromising the Chk2-p53 apoptotic pathway. | 0.507329 | Thus, by fusing <span class="gene" id="16835227-8-16-19">PML</span> with RARalpha, the <span class="disease" id="16835227-8-39-42">APL</span> cells appear to have achieved functional suppression of Chk2 compromising the Chk2-p53 apoptotic pathway. | CTD_human;ORPHANET |
null | null | Negative | MESH:D009369 | null | null | tumor | 22060 | null | p53 | null | 28,092,675 | Melanoma tumors usually retain wild-type p53; however, its tumor-suppressor activity is functionally disabled, most commonly through an inactivating interaction with mouse double-minute 2 homolog (Mdm2), indicating p53 release from this complex as a potential therapeutic approach. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | contralateral disease | 672;675 | null | BRCA1/2 | null | 28,150,129 | However, little is understood about why BRCA1/2 mutation noncarriers, who are generally not at substantially elevated risk of contralateral disease, select CPM. | null | null | null |
1 | 0 | Biomarker | C1456865 | Ureteral Calculi | disease | ureteral stone | 2936 | GSR | glutathione reductase | CTD_human | 24,360,074 | The ureteral stone group also had significantly lower erythrocyte glutathione peroxidase levels and glutathione reductase activity than the controls. | 0.2 | The <span class="disease" id="24360074-8-4-18">ureteral stone</span> group also had significantly lower erythrocyte glutathione peroxidase levels and <span class="gene" id="24360074-8-100-121">glutathione reductase</span> activity than the controls. | CTD_human |
1 | 2 | Biomarker | C0007959 | Charcot-Marie-Tooth Disease | disease | Charcot-Marie-Tooth disease | 90678 | LRSAM1 | LRSAM1 | CTD_human | 20,865,121 | Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. | 0.201099 | Mutation in the gene encoding ubiquitin ligase <span class="gene" id="20865121-0-47-53">LRSAM1</span> in patients with <span class="disease" id="20865121-0-71-98">Charcot-Marie-Tooth disease</span>. | CTD_human |
null | null | Negative | MESH:D009203 | null | null | post-MI | 25402 | null | caspase-3 | 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 |
null | null | Negative | MESH:D006938 | null | null | ligand-binding domain | 367 | null | AR | null | 28,165,461 | Here we show that dimerization of AR ligand-binding domain (LBD) is induced by receptor agonists but not by antagonists. | null | null | null |
1 | 3 | Biomarker | C0035258 | Restless Legs Syndrome | disease | RLS | 114781 | BTBD9 | BTBD9 | CTD_human | 17,637,780 | In a genome-wide association study we found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively. | 0.214624 | In a genome-wide association study we found highly significant associations between <span class="disease" id="17637780-2-84-87">RLS</span> and intronic variants in the homeobox gene MEIS1, the <span class="gene" id="17637780-2-142-147">BTBD9</span> gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively. | CTD_human |
2 | 0 | Biomarker | C0220633 | Uveal melanoma | disease | uveal melanoma | 23451 | SF3B1 | SF3B1 | CTD_human | 23,313,955 | Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. | 0.403022 | Recurrent mutations at codon 625 of the splicing factor <span class="gene" id="23313955-0-56-61">SF3B1</span> in <span class="disease" id="23313955-0-65-79">uveal melanoma</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D005767 | null | null | gastrointestinal toxicity | 963084 | null | CPT11 | null | 28,015,649 | Screening for UGT1A1 promoter polymorphism is clinically useful to identify patients with greater susceptibility to CPT11-induced gastrointestinal toxicity. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 29108 | PYCARD | TMS1 | CTD_human | 17,471,463 | Transcriptional silencing of the TMS1/ASC tumour suppressor gene by an epigenetic mechanism in hepatocellular carcinoma cells. | 0.200549 | Transcriptional silencing of the <span class="gene" id="17471463-0-33-37">TMS1</span>/ASC tumour suppressor gene by an epigenetic mechanism in <span class="disease" id="17471463-0-95-119">hepatocellular carcinoma</span> cells. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 22339 | null | VEGF | null | 28,022,573 | PTC299, an oral investigational drug, is designed to inhibit the synthesis of VEGF and other angiogenic cytokines in tumors. | null | null | null |
null | null | Negative | MESH:D010001 | null | null | PDB | 373156 | null | Glutathione S-transferase | null | 28,103,771 | The plant metabolites were evaluated for 'drug-likeness' and docked toward four selected validated Schistosoma drug targets; Glutathione S-transferase, Thioredoxin glutathione reductase, Histone deacetylase and Schistosoma masoni arginase, with PDB codes: 1M9A, 2X99, 4BZ8 and 4Q3T respectively. | null | null | null |
null | null | Negative | MESH:D018805 | null | null | sepsis | 12696 | null | Cold-inducible RNA-binding protein | null | 28,128,330 | UNASSIGNED: Cold-inducible RNA-binding protein (CIRP), released into the circulation during sepsis, causes lung injury via an as yet unknown mechanism. | null | null | null |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 25816 | TNFAIP8 | TNFAIP8 | CTD_human | 21,969,086 | We detected correlations between TNFAIP8 expression and TNM stage (P < 0.001), tumor depth (P = 0.002), lymph node metastasis (P = 0.013), distant metastasis (P = 0.001), lymphatic invasion (P < 0.001), and venous invasion (P < 0.001) among the clinicopathological characteristics of ESCC patients, and high TNFAIP8 expression was found in poor survival. | 0.201374 | We detected correlations between <span class="gene" id="21969086-6-33-40">TNFAIP8</span> expression and TNM stage (P < 0.001), tumor depth (P = 0.002), lymph node metastasis (P = 0.013), distant <span class="disease" id="21969086-6-147-157">metastasis</span> (P = 0.001), lymphatic invasion (P < 0.001), and venous invasion (P < 0.001) among the clinicopathological characteristics of ESCC patients, and high <span class="gene" id="21969086-6-308-315">TNFAIP8</span> expression was found in poor survival. | CTD_human |
null | null | Negative | MESH:D015467 | null | null | chronic neutrophilic leukemia | 26040 | null | SET binding protein 1 | null | 28,158,286 | OBJECTIVES: This meta-analysis investigates the prognostic effect of SET binding protein 1 (SETBP1) mutations in patients with myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), or chronic neutrophilic leukemia (CNL). | null | null | null |
1 | 0 | Biomarker | C0206681 | Adenocarcinoma, Clear Cell | disease | clear cell adenocarcinomas | 7157 | TP53 | p53 | CTD_human | 9,754,764 | Bcl-2 protein expression associated with resistance to apoptosis in clear cell adenocarcinomas of the vagina and cervix expressing wild-type p53. | 0.204055 | Bcl-2 protein expression associated with resistance to apoptosis in <span class="disease" id="9754764-0-68-94">clear cell adenocarcinomas</span> of the vagina and cervix expressing wild-type <span class="gene" id="9754764-0-141-144">p53</span>. | CTD_human |
null | null | Negative | MESH:C537620 | null | null | Myhre syndrome | 21803 | null | TGFb | null | 28,167,493 | Smad4 is an intracellular effector of the TGFb family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints. | null | null | null |
3 | 0 | Biomarker | C0027794 | Neural Tube Defects | group | neural tube defects | 5077 | PAX3 | Pax-3 | CTD_human | 12,739,027 | In addition, induction of oxidative stress with antimycin A inhibited Pax-3 expression and increased neural tube defects. | 0.206579 | In addition, induction of oxidative stress with antimycin A inhibited <span class="gene" id="12739027-8-70-75">Pax-3</span> expression and increased <span class="disease" id="12739027-8-101-120">neural tube defects</span>. | CTD_human |
1 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2D | 83795 | KCNK16 | KCNK16 | CTD_human | 22,158,537 | The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. | 0.200275 | The combined analysis identified eight new <span class="disease" id="22158537-3-43-46">T2D</span> loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, <span class="gene" id="22158537-3-144-150">KCNK16</span>, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. | CTD_human |
17 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | Hyperalgesia | 3827 | KNG1 | bradykinin | CTD_human | 9,720,808 | Hyperalgesia induced by prostaglandin E2 remained unaffected by FR173657.5.Blood pressure reflexes following i.p. instillation of bradykinin in anaesthetized rats were inhibited by FR173657 s.c. with an ID50 of 1.1 micromol kg(-1), while the peptidic B2 antagonist icatibant (Hoe-140; D-Arg0-[Hyp3, Thi5, D-Tic7, Oic8]-bradykinin) caused inhibition at significantly lower doses (ID50 8.5 nmol kg(-1) P < 0.001).Responses to hydrochloric acid i.p. remained unaffected by FR173657.6. | 0.280824 | <span class="disease" id="9720808-7-0-12">Hyperalgesia</span> induced by prostaglandin E2 remained unaffected by FR173657.5.Blood pressure reflexes following i.p. instillation of <span class="gene" id="9720808-7-130-140">bradykinin</span> in anaesthetized rats were inhibited by FR173657 s.c. with an ID50 of 1.1 micromol kg(-1), while the peptidic B2 antagonist icatibant (Hoe-140; D-Arg0-[Hyp3, Thi5, D-Tic7, Oic8]-<span class="gene" id="9720808-7-319-329">bradykinin</span>) caused inhibition at significantly lower doses (ID50 8.5 nmol kg(-1) P < 0.001).Responses to hydrochloric acid i.p. remained unaffected by FR173657.6. | CTD_human |
1 | 0 | Biomarker | C0014457 | Eosinophilia | disease | eosinophilia | 7097 | TLR2 | TLR2 | CTD_human | 26,882,889 | Also, the TLR4 ligand LPS and TLR2 ligand like ?-glucan may be strong candidates for exacerbation of lung eosinophilia. | 0.200549 | Also, the TLR4 ligand LPS and <span class="gene" id="26882889-10-30-34">TLR2</span> ligand like β-glucan may be strong candidates for exacerbation of lung <span class="disease" id="26882889-10-106-118">eosinophilia</span>. | CTD_human |
null | null | Negative | MESH:D019465 | null | null | craniofacial defects | 22408 | 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 |
null | null | Negative | MESH:D005776 | null | null | GD | 3339 | null | PLC | null | 28,207,759 | Two recombinant GBA preparations with distinct N-linked glycans are registered in Europe for treatment of type I GD: imiglucerase (Genzyme), contains predominantly Man(3) glycans, and velaglucerase (Shire PLC) Man(9) glycans. | null | null | null |
null | null | Negative | MESH:D014085 | null | null | migration | 6387 | null | CXCL12 | null | 28,053,879 | Based on transcriptome pathways and EV-labelling, lysozyme's effects on cell migration were tested in human colon epithelial CRL-1790 cells and compared to the effects of CXCL12, a migration inducer (wound assay). | null | null | null |
1 | 0 | Biomarker | C0242422 | Parkinsonian Disorders | group | parkinsonism disorder | 8575 | PRKRA | PRKRA | CTD_human | 18,243,799 | DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. | 0.401374 | <span class="gene" id="18243799-0-0-5">DYT16</span>, a novel young-onset dystonia-<span class="disease" id="18243799-0-36-57">parkinsonism disorder</span>: identification of a segregating mutation in the stress-response protein <span class="gene" id="18243799-0-131-136">PRKRA</span>. | CTD_human;HPO |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 15,660,393 | The main side effect was anemia, which was controlled with erythropoietin. | 0.24092 | The main side effect was <span class="disease" id="15660393-9-25-31">anemia</span>, which was controlled with <span class="gene" id="15660393-9-59-73">erythropoietin</span>. | CTD_human |
1 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 56729 | RETN | resistin | CTD_human | 18,328,350 | Relationship between plasma resistin concentrations, inflammatory chemokines, and components of the metabolic syndrome in adults. | 0.210793 | Relationship between plasma <span class="gene" id="18328350-0-28-36">resistin</span> concentrations, inflammatory chemokines, and components of the <span class="disease" id="18328350-0-100-118">metabolic syndrome</span> in adults. | CTD_human |
null | null | Negative | MESH:D008181 | null | null | lupus nephritis | 60498 | null | IgA nephropathy | null | 28,197,459 | UNASSIGNED: Background: Mesangioproliferative glomerulonephritis (MesPGN) is a common morphological pattern that encompasses several groups of renal diseases including IgA nephropathy (IgAN), IgM nephropathy (IgMN), lupus nephritis (LN), C1q nephropathy (C1qN) and other entities. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 319594 | null | factor inhibiting hypoxia-inducible factor 1 | null | 28,142,001 | Growth-promoting functions of these two miRNAs were, in part, mediated by the common target, the factor inhibiting hypoxia-inducible factor 1 (FIH1), and the downstream pathways involving hypoxia-inducible factor HIF1a and Notch signaling. | null | null | null |
null | null | Negative | MESH:D020244 | null | null | middle cerebral artery occlusion | 114523 | null | Netrin-1 | null | 28,084,632 | We addressed this question in the present study by inducing stroke in rats via middle cerebral artery occlusion (MCAO), and evaluating the effects of Netrin-1 treatment by neurobehavioral testing, immunocytochemistry, and western blotting. | null | null | null |
null | null | Negative | MESH:D044882 | null | null | impaired glucose metabolism | 24362 | null | Fbp1 | null | 28,101,822 | The present study aimed to analyze G6pc, Fbp1, and Pck1 gene expressions in two experimental animal models of impaired glucose metabolism. | null | null | null |
1 | 2 | Biomarker | C0022521 | Kartagener Syndrome | disease | PCD | 92749 | DRC1 | CCDC164 | CTD_human | 23,354,437 | Here, we identify the DRC1 subunit of the nexin-dynein regulatory complex (N-DRC), an axonemal structure critical for the regulation of dynein motors, and show that mutations in the gene encoding DRC1, CCDC164, are involved in PCD pathogenesis. | 0.400275 | Here, we identify the <span class="gene" id="23354437-2-22-26">DRC1</span> subunit of the nexin-dynein regulatory complex (N-DRC), an axonemal structure critical for the regulation of dynein motors, and show that mutations in the gene encoding <span class="gene" id="23354437-2-196-200">DRC1</span>, <span class="gene" id="23354437-2-202-209">CCDC164</span>, are involved in <span class="disease" id="23354437-2-227-230">PCD</span> pathogenesis. | CTD_human;ORPHANET |
null | null | Negative | MESH:D009369 | null | null | tumor | 13856 | null | erythropoietin | null | 28,070,752 | MIF absence reduced gene expression of erythropoietin, tumor necrosis factor alpha and intercellular adhesion molecule-1 by 30, 70 and 50%, respectively, decreased the number of retinal EPCs by 37.5% and inhibited microglial activation in the hypoxic condition. | null | null | null |
1 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 7157 | TP53 | p53 | CTD_human | 10,384,915 | Expression of p53 protein before and after PUVA treatment in psoriasis. | 0.205755 | Expression of <span class="gene" id="10384915-0-14-17">p53</span> protein before and after PUVA treatment in <span class="disease" id="10384915-0-61-70">psoriasis</span>. | CTD_human |
1 | 0 | Biomarker | C0011581 | Depressive disorder | disease | depression | 23705 | CADM1 | Cadm1 | CTD_human | 22,113,448 | Furthermore, a candidate genetic locus that associates with baseline depressive-like behavior contains a gene that encodes for cellular proliferation/adhesion molecule (Cadm1), supporting a genetic basis for the role of neuro/gliogenesis in depression. | 0.2 | Furthermore, a candidate genetic locus that associates with baseline depressive-like behavior contains a gene that encodes for cellular proliferation/adhesion molecule (<span class="gene" id="22113448-8-169-174">Cadm1</span>), supporting a genetic basis for the role of neuro/gliogenesis in <span class="disease" id="22113448-8-241-251">depression</span>. | CTD_human |
null | null | Negative | MESH:D006086 | null | null | GVHD | 6761 | null | ST2 | null | 28,194,439 | We measured the concentrations of 4 GVHD biomarkers (ST2, REG3a, TNFR1, and IL-2Ra) and used them to model 6-month NRM using rigorous cross-validation strategies to identify the best algorithm that defined 2 distinct risk groups. | null | null | null |
1 | 0 | Biomarker | C0034067 | Pulmonary Emphysema | disease | emphysema | 3162 | HMOX1 | heme oxygenase-1 | CTD_human | 10,631,150 | Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. | 0.200824 | Microsatellite polymorphism in the <span class="gene" id="10631150-0-35-51">heme oxygenase-1</span> gene promoter is associated with susceptibility to <span class="disease" id="10631150-0-103-112">emphysema</span>. | CTD_human |
2 | 1 | Biomarker | C1956346 | Coronary Artery Disease | disease | coronary artery disease | 4018 | LPA | LPA | CTD_human | 20,435,227 | A variant in LPA was consistent with a family history of coronary artery disease. | 0.252768 | A variant in <span class="gene" id="20435227-12-13-16">LPA</span> was consistent with a family history of <span class="disease" id="20435227-12-57-80">coronary artery disease</span>. | CTD_human |
null | null | Negative | MESH:D008228 | null | null | NHL | 6287 | null | SAA | null | 28,014,536 | RESULTS: Primary diagnoses included ALL (n=212), AML (n=205), SAA (n=113), HD/NHL (n=67), inborn errors of metabolism (IEM: n=81), and other diagnoses (n=184). | null | null | null |
1 | 0 | Biomarker | C0751778 | Myoclonic Epilepsies, Progressive | disease | progressive myoclonus epilepsy | 3746 | KCNC1 | KCNC1 | CTD_human | 25,401,298 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | 0.200275 | A recurrent de novo mutation in <span class="gene" id="25401298-0-32-37">KCNC1</span> causes <span class="disease" id="25401298-0-45-75">progressive myoclonus epilepsy</span>. | CTD_human |
null | null | Negative | MESH:D000419 | null | null | albuminuria | 170484 | null | podocin | null | 28,052,869 | In the mice with NLRP3 gene deletion, Aldo-induced downregulation of nephrin and podocin, podocyte foot processes, and albuminuria was remarkably improved, indicating an amelioration of podocyte injury. | null | null | null |
null | null | Negative | MESH:D006948 | null | null | increase in osteoblastogenic activity | 24835 | null | TNF-a | null | 28,158,228 | In tibiae, SW+RAL significantly reduced cathepsin k and TNF-a levels, indicating the inhibition of osteoclast activity, while all treatments significantly increased runt-related transcription factor 2 and bone morphogenetic-2 expression, suggesting an increase in osteoblastogenic activity. | null | null | null |
4 | 8 | Biomarker | C0028326 | Noonan Syndrome | disease | Noonan syndrome | 3845 | KRAS | KRAS | CTD_human | 17,603,483 | Increased RAS signaling owing to PTPN11, SOS1 and KRAS mutations causes approximately 60% of Noonan syndrome cases, and PTPN11 mutations cause 90% of LEOPARD syndrome cases. | 0.426343 | Increased RAS signaling owing to PTPN11, SOS1 and <span class="gene" id="17603483-2-50-54">KRAS</span> mutations causes approximately 60% of <span class="disease" id="17603483-2-93-108">Noonan syndrome</span> cases, and PTPN11 mutations cause 90% of LEOPARD syndrome cases. | CTD_human;ORPHANET |
2 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | MI | 4306 | NR3C2 | MR | CTD_human | 17,587,755 | Real time reverse transcription-polymerase chain reaction (RT-PCR) analysis showed that the expression of mineralocorticoid receptor (MR) mRNA and that of 11beta-hydroxysteroid dehydrogenase 2 (11beta-HSD2) mRNA, which is known to confer aldosterone selectivity on MR, were upregulated in the untreated MI group, and that spironolactone significantly suppressed the expression of these genes. | 0.201648 | Real time reverse transcription-polymerase chain reaction (RT-PCR) analysis showed that the expression of <span class="gene" id="17587755-9-106-132">mineralocorticoid receptor</span> (<span class="gene" id="17587755-9-134-136">MR</span>) mRNA and that of 11beta-hydroxysteroid dehydrogenase 2 (11beta-HSD2) mRNA, which is known to confer aldosterone selectivity on <span class="gene" id="17587755-9-265-267">MR</span>, were upregulated in the untreated <span class="disease" id="17587755-9-303-305">MI</span> group, and that spironolactone significantly suppressed the expression of these genes. | CTD_human |
1 | 1 | Biomarker | C3714756 | Intellectual Disability | group | mental retardation | 2904 | GRIN2B | GRIN2B | CTD_human | 20,890,276 | Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. | 0.401374 | Sequencing of <span class="gene" id="20890276-4-14-20">GRIN2B</span> in 468 individuals with <span class="disease" id="20890276-4-45-63">mental retardation</span> revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. | CTD_human;HPO |
null | null | Negative | MESH:D016464 | null | null | hereditary lysosomal storage disease | 485337 | null | TPP1 | null | 28,079,862 | CLN2 neuronal ceroid lipofuscinosis is a hereditary lysosomal storage disease with primarily neurological signs that results from mutations in TPP1, which encodes the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 9757 | KMT2B | MLL4 | CTD_human | 22,634,754 | We also identified recurrent HBV integration events (in ? 4 HCCs) that were validated by RNA sequencing (RNA-seq) and Sanger sequencing at the known and putative cancer-related TERT, MLL4 and CCNE1 genes, which showed upregulated gene expression in tumor versus normal tissue. | 0.201648 | We also identified recurrent HBV integration events (in ≥ 4 <span class="disease" id="22634754-5-60-63">HCC</span>s) that were validated by RNA sequencing (RNA-seq) and Sanger sequencing at the known and putative cancer-related TERT, <span class="gene" id="22634754-5-183-187">MLL4</span> and CCNE1 genes, which showed upregulated gene expression in tumor versus normal tissue. | CTD_human |
3 | 1 | Biomarker | C0240912 | Vertical Talus | disease | congenital vertical talus | 3236 | HOXD10 | HOXD10 | CTD_human | 16,450,407 | HOXD10 M319K mutation in a family with isolated congenital vertical talus. | 0.601099 | <span class="gene" id="16450407-0-0-6">HOXD10</span> M319K mutation in a family with isolated <span class="disease" id="16450407-0-48-73">congenital vertical talus</span>. | CTD_human;HPO;UNIPROT |
1 | 0 | Biomarker | C0023290 | Leishmaniasis, Visceral | disease | visceral leishmaniasis | 3123 | HLA-DRB1 | HLA-DRB1 | CTD_human | 23,291,585 | Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. | 0.200275 | Common variants in the <span class="gene" id="23291585-0-23-31">HLA-DRB1</span>-HLA-DQA1 HLA class II region are associated with susceptibility to <span class="disease" id="23291585-0-99-121">visceral leishmaniasis</span>. | CTD_human |
2 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 3576 | CXCL8 | IL-8 | CTD_human | 15,337,792 | Theophylline induced a sixfold increase in HDAC activity in COPD AM lysates and significantly enhanced dexamethasone suppression of induced IL-8 release, an effect that was blocked by the HDAC inhibitor trichostatin A. | 0.218954 | Theophylline induced a sixfold increase in HDAC activity in <span class="disease" id="15337792-6-60-64">COPD</span> AM lysates and significantly enhanced dexamethasone suppression of induced <span class="gene" id="15337792-6-140-144">IL-8</span> release, an effect that was blocked by the HDAC inhibitor trichostatin A. | CTD_human |
null | null | Negative | MESH:C562388 | null | null | BAV | 4851 | null | NOTCH1 | null | 28,157,139 | Since the description of the link between NOTCH1, BAV and CAVD approximately a decade ago, there have been significant advances in the genetic and molecular understanding of these diseases. | null | null | null |
null | null | Negative | MESH:D055370 | null | null | hyperoxic lung injury | 12013 | null | Bach1 | null | 28,099,425 | The effects of Bach1 disruption on hyperoxic lung injury in newborn mice have not been determined. | null | null | null |
10 | 0 | Therapeutic | C0524910 | Hepatitis C, Chronic | disease | chronic hepatitis C | 3440 | IFNA2 | Interferon-alpha-2B | CTD_human | 9,860,407 | Interferon-alpha-2B and ribavirin in combination for chronic hepatitis C patients not responding to interferon-alpha alone: an Italian multicenter, randomized, controlled, clinical study. | 0.239011 | <span class="gene" id="9860407-0-0-19">Interferon-alpha-2B</span> and ribavirin in combination for <span class="disease" id="9860407-0-53-72">chronic hepatitis C</span> patients not responding to interferon-alpha alone: an Italian multicenter, randomized, controlled, clinical study. | CTD_human |
1 | 0 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 1029 | CDKN2A | Arf | CTD_human | 15,814,359 | Loss of heterozygosity at the Ink4a/Arf gene locus was observed in 5/5 malignant gliomas and 1/1 neuroblastoma, while the PTEN(phosphatase and tensin homologue) gene locus was unaffected by deletions. | 0.208777 | Loss of heterozygosity at the <span class="gene" id="15814359-7-30-35">Ink4a</span>/<span class="gene" id="15814359-7-36-39">Arf</span> gene locus was observed in 5/5 malignant gliomas and 1/1 <span class="disease" id="15814359-7-97-110">neuroblastoma</span>, while the PTEN(phosphatase and tensin homologue) gene locus was unaffected by deletions. | CTD_human |
5 | 3 | Biomarker | C0023786 | Mucopolysaccharidosis I | disease | mucopolysaccharidosis type I | 3425 | IDUA | alpha-L-iduronidase | CTD_human | 15,081,804 | alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. | 0.232309 | <span class="gene" id="15081804-0-0-19">alpha-L-iduronidase</span> premature stop codons and potential read-through in <span class="disease" id="15081804-0-72-100">mucopolysaccharidosis type I</span> patients. | CTD_human |
null | null | Negative | MESH:D008180 | null | null | lupus | 12362 | null | caspase-1 | null | 28,039,299 | Recently, a role for caspase-1 in murine lupus was described, indicating an involvement of inflammasomes in the development of SLE. | null | null | null |
null | null | Negative | MESH:D008569 | null | null | memory deficits | 16534 | null | KCa3.1 | null | 28,105,015 | Pharmacological blockade of KCa3.1 significantly reduced astrogliosis, microglial activation, neuronal loss, and memory deficits. | null | null | null |
1 | 0 | Biomarker | C0007194 | Hypertrophic Cardiomyopathy | disease | HCM | 7139 | TNNT2 | TNNT2 | CTD_human | 19,087,273 | Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM. | 0.438811 | Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (<span class="gene" id="19087273-7-88-93">TNNT2</span>) gene, which is causally associated with <span class="disease" id="19087273-7-135-138">HCM</span>. | CTD_human;HPO |
null | null | Negative | MESH:D055370 | null | null | lung injury | 21869 | null | NKX2.1 | null | 28,202,123 | OBJECTIVE: To investigate the expression of long non-coding RNA NANCI in lung tissues of neonatal mice with hyperoxia-induced lung injury and its regulatory effect on NKX2.1. | null | null | null |
null | null | Negative | MESH:D004342 | null | null | allergic | 26416 | null | p38 MAPK | null | 28,139,747 | Our findings provide evidence that the anti-allergic inflammatory properties of roxatidine are mediated by the inhibition of NF-kB and caspase-1 activation, p38 MAPK pathway and mast cell-derived cytokine production. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 14289 | null | Fpr2 | null | 28,071,789 | Conclusion and Implications ATL blocked atherosclerosis progression by means of an Fpr2-mediated reduced local and systemic inflammation. | null | null | null |
null | null | Negative | MESH:D000309 | null | null | hypofunction | 17246 | null | murine double minute 2 | null | 28,155,209 | We therefore wished to begin to explore this idea by evaluating atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) cells, because murine double minute 2 (MDM2) gene amplification, which leads to p53 hypofunction, is found in almost all ALT/WDLs. | null | null | null |
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