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4 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 627 | BDNF | BDNF | CTD_human | 12,951,204 | Our finding suggests that this BDNF-gene Val66Met polymorphism may be related to schizophrenia pathogenesis in patients responsive to clozapine treatment. | 0.382981 | Our finding suggests that this <span class="gene" id="12951204-7-31-35">BDNF</span>-gene Val66Met polymorphism may be related to <span class="disease" id="12951204-7-81-94">schizophrenia</span> pathogenesis in patients responsive to clozapine treatment. | CTD_human |
2 | 0 | Biomarker | C0017661 | IGA Glomerulonephritis | disease | IgA nephropathy | 1636 | ACE | ACE | CTD_human | 9,259,580 | Our results suggest that polymorphisms at the AGT and ACE gene loci are important markers for predicting progression to chronic renal failure in Caucasian patients with IgA nephropathy. | 0.258473 | Our results suggest that polymorphisms at the AGT and <span class="gene" id="9259580-12-54-57">ACE</span> gene loci are important markers for predicting progression to chronic renal failure in Caucasian patients with <span class="disease" id="9259580-12-169-184">IgA nephropathy</span>. | CTD_human |
null | null | Negative | MESH:D017439 | null | null | hypertrophic scar | 241 | null | flap | null | 28,163,452 | Common complications observed were flap necrosis seen in three patients and one patient developed hematoma on the second post-operative day, hypertrophic scar in one case and recurrence of BCC. | null | null | null |
17 | 19 | Biomarker | C1853833 | Parkinson Disease 6, Autosomal Recessive Early-Onset | disease | PARK6 | 65018 | PINK1 | PINK1 | CTD_human | 21,421,046 | PARK6 PINK1 mutants are defective in maintaining mitochondrial membrane potential and inhibiting ROS formation of substantia nigra dopaminergic neurons. | 0.480275 | <span class="disease" id="21421046-0-0-5">PARK6</span> <span class="gene" id="21421046-0-6-11">PINK1</span> mutants are defective in maintaining mitochondrial membrane potential and inhibiting ROS formation of substantia nigra dopaminergic neurons. | CTD_human;UNIPROT |
3 | 2 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 3559 | IL2RA | IL2RA | CTD_human | 20,453,842 | We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. | 0.215397 | We also refined associations at two established <span class="disease" id="20453842-4-48-68">rheumatoid arthritis</span> risk loci (<span class="gene" id="20453842-4-80-85">IL2RA</span> and CCL21) and confirmed the association at AFF3. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | CPD | 7450 | null | VWF | null | 28,060,126 | We conclude that increased bleeding risk is associated with low VWF:RCo/Ag ratio in pediatric AVWS due to CPD. | null | null | null |
null | null | Negative | MESH:D020214 | null | null | brain injury | 2147 | null | thrombin | null | 28,202,418 | In this study, BV2 cells with thrombin exposure were used to investigate the role of NLRP3 inflammasome in thrombin-induced brain injury. | null | null | null |
1 | 0 | Biomarker | C0023434 | Chronic Lymphocytic Leukemia | disease | chronic lymphoid leukemia | 5743 | PTGS2 | cyclooxygenase-2 | CTD_human | 16,314,473 | Potential pathogenetic implications of cyclooxygenase-2 overexpression in B chronic lymphoid leukemia cells. | 0.204107 | Potential pathogenetic implications of <span class="gene" id="16314473-0-39-55">cyclooxygenase-2</span> overexpression in B <span class="disease" id="16314473-0-76-101">chronic lymphoid leukemia</span> cells. | CTD_human |
1 | 0 | Biomarker | C0400966 | Non-alcoholic Fatty Liver Disease | disease | NAFLD | 5465 | PPARA | PPAR? | CTD_human | 23,603,006 | Amelioration by chicory seed extract of diabetes- and oleic acid-induced non-alcoholic fatty liver disease (NAFLD)/non-alcoholic steatohepatitis (NASH) via modulation of PPAR? and SREBP-1. | 0.204945 | Amelioration by chicory seed extract of diabetes- and oleic acid-induced <span class="disease" id="23603006-0-73-106">non-alcoholic fatty liver disease</span> (<span class="disease" id="23603006-0-108-113">NAFLD</span>)/non-alcoholic steatohepatitis (NASH) via modulation of <span class="gene" id="23603006-0-170-175">PPARα</span> and SREBP-1. | CTD_human |
3 | 0 | Therapeutic | C0002622 | Amnesia | disease | amnesia | 7200 | TRH | TRH | CTD_human | 7,617,693 | NS-3 improved amnesia caused by scopolamine, electroconvulsive shock (ECS), and cycloheximide (CXM), but TRH improved only the ECS-induced amnesia. | 0.2 | NS-3 improved <span class="disease" id="7617693-2-14-21">amnesia</span> caused by scopolamine, electroconvulsive shock (ECS), and cycloheximide (CXM), but <span class="gene" id="7617693-2-105-108">TRH</span> improved only the ECS-induced <span class="disease" id="7617693-2-139-146">amnesia</span>. | CTD_human |
null | null | Negative | MESH:D015179 | null | null | colorectal cancer | 11687 | null | ALOX15 | null | 28,089,732 | ALOX15 expression is downregulated in colorectal cancer (CRC). | null | null | null |
null | null | Negative | MESH:D003677 | null | null | LXRb-deficient | 11816 | null | ApoE | null | 28,002,731 | LXRb-deficient mice crossed to the hyperlipidemic ApoE-deficient background or challenged with a high-cholesterol diet developed autoantibodies. | null | null | null |
null | null | Negative | MESH:C567703 | null | null | Rat Intestinal Epithelial | 25279 | null | CYP24A1 | null | 28,104,492 | Young Adult Mouse Colon (YAMC) and Rat Intestinal Epithelial (RIE) cell lines with stable expression of mutant H-RAS had suppressed 1,25(OH)2D-mediated induction of CYP24A1 mRNA. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 24494 | null | interleukin 1b | null | 28,092,020 | In addition, increased levels of proinflammatory cytokines, interleukin 1b (IL-1b), interleukin 6 (IL-6), and tumor necrosis factor-alpha (TNF-a) were observed in the hippocampus of the ESI group. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 93759 | null | SIRT1 | null | 28,133,883 | In vitro, CORM-2 reduced hypoxia/reoxygenation-induced HMGB1 translocation and release, these inhibitions were blocked by SIRT1 inhibition using EX527 or SIRT1 small interfering RNA both in alpha mouse liver 12 cells and RAW264.7 macrophages. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | colonic inflammation | 15111 | null | TH2/9 | null | 28,125,560 | CONCLUSIONS: Our findings reveal a fundamental contribution for the IL-36y/IL-36R axis in promoting TH2/9-dependent colonic inflammation. | null | null | null |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung carcinoma | 7422 | VEGFA | VEGF | CTD_human | 15,956,251 | In the present studies, mice bearing established xenografts (A431 epidermoid carcinoma, H125 non-small cell lung carcinoma, SF767 glioblastoma, and MDA-MB-468 mammary carcinoma) were treated with efficacious and subefficacious doses of CI-1033, and plasma levels and xenograft gene expression of VEGF and IL-8 were evaluated. | 0.232627 | In the present studies, mice bearing established xenografts (A431 epidermoid carcinoma, H125 <span class="disease" id="15956251-4-93-122">non-small cell lung carcinoma</span>, SF767 glioblastoma, and MDA-MB-468 mammary carcinoma) were treated with efficacious and subefficacious doses of CI-1033, and plasma levels and xenograft gene expression of <span class="gene" id="15956251-4-296-300">VEGF</span> and IL-8 were evaluated. | CTD_human |
null | null | Negative | MESH:D007593 | null | null | joint laxity | 6094 | null | ROM? | null | 28,050,816 | QUESTIONS/PURPOSES: (1) When compared with subjects who are not habitual knuckle crackers, do habitual knuckle crackers have greater QuickDASH scores, swelling, weakness, joint laxity, or ROM? | null | null | null |
null | null | Negative | MESH:C566179 | null | null | IVF | 171558 | null | pre T-cell antigen receptor alpha | null | 28,090,815 | Nanofluidic qPCR of differentially methylated genes identified pre T-cell antigen receptor alpha ( PTCRA) to be significantly downregulated in IVF versus NIFT conceptions. | null | null | null |
1 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 79930 | DOK3 | Dok3 | CTD_human | 20,139,980 | Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 as lung tumor suppressors. | 0.200275 | Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and <span class="gene" id="20139980-2-87-91">Dok3</span> as <span class="disease" id="20139980-2-95-105">lung tumor</span> suppressors. | CTD_human |
null | null | Negative | MESH:D001162 | null | null | arteriosclerosis obliterans | 22900 | null | CARD8 | null | 28,135,700 | The primary objective of this study was to investigate the association between polymorphism of CARD8 rs2043211 and susceptibility to arteriosclerosis obliterans (ASO) in Chinese Han male population. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 7153 | null | TOP2A | null | 28,075,472 | Meanwhile, DFS and OS of breast cancer patients with TOP2A-positive tumors were also lower than these rates in patients with TOP2A-negative tumors. | null | null | null |
2 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | Myocardial infarction | 4843 | NOS2 | iNOS | CTD_human | 10,090,345 | Myocardial infarction was induced by ligation of the left anterior descending coronary artery (LAD), and tissue was collected at selected times thereafter from both ligated and sham-operated rats. iNOS mRNA was induced in the infarcted region of the left ventricle for 7 days; iNOS protein was also detected in the infarcted area. | 0.200824 | <span class="disease" id="10090345-4-0-21">Myocardial infarction</span> was induced by ligation of the left anterior descending coronary artery (LAD), and tissue was collected at selected times thereafter from both ligated and sham-operated rats. iNOS mRNA was induced in the infarcted region of the left ventricle for 7 days; <span class="gene" id="10090345-4-277-281">iNOS</span> protein was also detected in the infarcted area. | CTD_human |
null | null | Negative | MESH:D034381 | null | null | hearing loss | 108031 | null | cor | null | 28,081,210 | In addition, cor triatriatum sinister and hearing loss, identified in a proportion of Hyal2-/- mice, were also found as incompletely penetrant features in affected humans. | null | null | null |
null | null | Negative | MESH:D006948 | null | null | hyperactivity | 24898 | null | DAT | null | 28,167,616 | The mGluR2/3 antagonist LY341495 also normalized hyperactivity in DAT mutant rats without affecting extracellular dopamine levels. | null | null | null |
3 | 0 | Biomarker | C0878681 | Dent's disease | disease | Dent disease | 1184 | CLCN5 | CLCN5 | CTD_human | 20,804,101 | Dent disease is X-linked recessive proximal tubulopathy, due to mutations in the CLCN5 gene. | 0.220264 | <span class="disease" id="20804101-1-0-12">Dent disease</span> is X-linked recessive proximal tubulopathy, due to mutations in the <span class="gene" id="20804101-1-81-86">CLCN5</span> gene. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 1019;1021 | null | CDK4/6 | null | 28,174,091 | Palbociclib, a selective CDK4/6 inhibitor, is now approved for the treatment of ER+/HER2- advanced breast cancer. | null | null | null |
null | null | Negative | MESH:D009059 | null | null | mouth disease | 28935 | null | A20 | null | 28,129,120 | Highly selective targeting avb6 was achieved using a foot and mouth disease virus-derived A20 peptide, coupled to a fused CD28<sup>+</sup>CD3 endodomain. | null | null | null |
null | null | Negative | MESH:D003586 | null | null | cytomegalovirus | 9636 | null | ISG15 | null | 28,202,760 | While many viruses, including human cytomegalovirus (HCMV), blunt host antiviral defenses by limiting ISG expression, the overall abundance of ISG15 monomer and protein conjugates rises in HCMV-infected cells. | null | null | null |
1 | 0 | Biomarker | C0948089 | Acute Coronary Syndrome | disease | acute coronary syndromes | 7099 | TLR4 | TLR4 | CTD_human | 20,981,132 | The study aims to explore the relationship between expressions of toll-like receptor 4 (TLR4) on peripheral blood monocytes, serum tumor necrosis factor-alpha (TNF-?) and matrix metalloproteinase-9 (MMP-9) in patients with acute coronary syndromes(ACS), and to investigate the possible mechanisms of Benazepril stabilizing atherosclerosis plaques. | 0.209745 | The study aims to explore the relationship between expressions of <span class="gene" id="20981132-1-66-86">toll-like receptor 4</span> (<span class="gene" id="20981132-1-88-92">TLR4</span>) on peripheral blood monocytes, serum tumor necrosis factor-alpha (TNF-α) and matrix metalloproteinase-9 (MMP-9) in patients with <span class="disease" id="20981132-1-223-247">acute coronary syndromes</span>(ACS), and to investigate the possible mechanisms of Benazepril stabilizing atherosclerosis plaques. | CTD_human |
1 | 0 | Biomarker | C0027404 | Narcolepsy | disease | narcolepsy | 1120 | CHKB | CHKB | CTD_human | 18,820,697 | Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. | 0.201099 | Variant between CPT1B and <span class="gene" id="18820697-0-26-30">CHKB</span> associated with susceptibility to <span class="disease" id="18820697-0-65-75">narcolepsy</span>. | CTD_human |
null | null | Negative | MESH:C563733 | null | null | carotid intima-media thickness | 404677 | null | CIMT | null | 28,199,358 | RESULTS: The mean common carotid intima-media thickness (CIMT) for the 14,618 participants was 0.86 0.003 mm. | null | null | null |
null | null | Negative | MESH:D029461 | null | null | SD | 1956 | null | ErbB1 | null | 28,015,222 | Twenty-two pts with various tumors, most overexpressing either ErbB1 or ErbB2, experienced SD with a median duration of 4 mos (range 1-13+ months). | null | null | null |
null | null | Negative | MESH:D000564 | null | null | Ameloblastoma | 1499 | null | b-catenin | null | 28,149,478 | Key words:Ameloblastoma, b-catenin, calcifying cystic odontogenic tumor, immunohistochemistry, Wnt. | null | null | null |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplastic syndromes | 7307 | U2AF1 | U2AF1 | CTD_human | 22,158,538 | Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. | 0.203297 | Recurrent mutations in the <span class="gene" id="22158538-0-27-32">U2AF1</span> splicing factor in <span class="disease" id="22158538-0-52-77">myelodysplastic syndromes</span>. | CTD_human |
null | null | Negative | MESH:C537492 | null | null | AOM | 16913 | null | LMP7 | null | 28,187,456 | Treatment with the LMP7 inhibitor ONX 0914 blocked tumor initiation and progression in either chemically-induced (AOM/DSS) or transgenic mouse models (ApcMin/+) of colon carcinogenesis. | null | null | null |
6 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 23435 | TARDBP | TDP-43 | CTD_human | 24,252,504 | TAR DNA-binding protein 43 (TDP-43) is a protein that is involved in the pathology of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD). | 0.74025 | <span class="gene" id="24252504-1-0-26">TAR DNA-binding protein 43</span> (<span class="gene" id="24252504-1-28-34">TDP-43</span>) is a protein that is involved in the pathology of <span class="disease" id="24252504-1-86-115">Amyotrophic Lateral Sclerosis</span> (<span class="disease" id="24252504-1-117-120">ALS</span>) and Frontotemporal Lobar Degeneration (FTLD). | CTD_human;HPO;ORPHANET |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 7430 | EZR | ezrin | CTD_human | 27,137,931 | High expression of ezrin correlates with poor prognosis and metastasis in osteosarcoma. | 0.230683 | High expression of <span class="gene" id="27137931-2-19-24">ezrin</span> correlates with poor prognosis and <span class="disease" id="27137931-2-60-70">metastasis</span> in osteosarcoma. | CTD_human |
4 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 5142 | PDE4B | PDE4B | CTD_human | 18,394,866 | Thus, the present observations suggest that dysregulation of intracellular signaling mediated by PDE4B is a significant factor in the cause and expression, respectively, of schizophrenia and bipolar disorder and that targeting PDE4B-regulated signaling pathways may yield new therapies to treat the totality of these disorders. | 0.403231 | Thus, the present observations suggest that dysregulation of intracellular signaling mediated by <span class="gene" id="18394866-6-97-102">PDE4B</span> is a significant factor in the cause and expression, respectively, of schizophrenia and <span class="disease" id="18394866-6-191-207">bipolar disorder</span> and that targeting <span class="gene" id="18394866-6-227-232">PDE4B</span>-regulated signaling pathways may yield new therapies to treat the totality of these disorders. | CTD_human;PSYGENET |
null | null | Negative | MESH:D012559 | null | null | schizophrenia | 12257 | null | TSPO | null | 28,093,569 | It remains unclear, however, whether TSPO imaging can accurately capture low-grade inflammatory processes such as those present in schizophrenia and related disorders. | null | null | null |
2 | 0 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | acute myeloid leukemias | 4297 | KMT2A | MLL | CTD_human | 26,237,430 | The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias. | 0.40997 | The transcriptomic landscape and directed chemical interrogation of <span class="gene" id="26237430-0-68-71">MLL</span>-rearranged <span class="disease" id="26237430-0-83-106">acute myeloid leukemias</span>. | CTD_human |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 492821 | null | NOXA | null | 28,097,065 | NOXA is a significant regulator of cell apoptosis, which has been reported to be beneficial in the treatment of fibrosis. | null | null | null |
null | null | Negative | MESH:D005921 | null | null | glomerulonephritis | 973 | null | IgA | null | 28,042,675 | The severity of IgA nephropathy (IgAN), the most common primary glomerulonephritis, is judged on the basis of histologic and clinical features. | null | null | null |
1 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | malignant mesothelioma | 6352 | CCL5 | RANTES | CTD_human | 25,162,674 | Increased levels of C-C chemokine RANTES in asbestos exposed workers and in malignant mesothelioma patients from an hyperendemic area. | 0.200275 | Increased levels of C-C chemokine <span class="gene" id="25162674-0-34-40">RANTES</span> in asbestos exposed workers and in <span class="disease" id="25162674-0-76-98">malignant mesothelioma</span> patients from an hyperendemic area. | CTD_human |
null | null | Negative | MESH:D002812 | null | null | enchondroma | 7076 | null | TIMP-1, type II collagen | null | 28,035,378 | Surgical pathological specimens were collected to detect MMP-1, MMP-13, TIMP-1, type II collagen and phosphorylated MAPK levels in normal cartilage, enchondroma and chondrosarcoma tissues. | null | null | null |
7 | 63 | Biomarker | C0043459 | Zellweger Syndrome | disease | Zellweger syndrome | 5189 | PEX1 | PEX1 | CTD_human | 10,447,258 | Identification of a common PEX1 mutation in Zellweger syndrome. | 0.688213 | Identification of a common <span class="gene" id="10447258-0-27-31">PEX1</span> mutation in <span class="disease" id="10447258-0-44-62">Zellweger syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
3 | 3 | Biomarker | C0242383 | Age related macular degeneration | disease | AMD | 387715 | ARMS2 | ARMS2 | CTD_human | 21,909,106 | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30). | 0.368536 | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and <span class="gene" id="21909106-3-54-59">ARMS2</span> (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative <span class="disease" id="21909106-3-154-157">AMD</span>: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30). | CTD_human |
14 | 39 | Biomarker | C0005283 | beta Thalassemia | disease | beta-thalassaemia | 3043 | HBB | beta-globin | CTD_human | 6,280,057 | Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. | 0.803727 | Linkage of <span class="disease" id="6280057-0-11-28">beta-thalassaemia</span> mutations and <span class="gene" id="6280057-0-43-54">beta-globin</span> gene polymorphisms with DNA polymorphisms in human <span class="gene" id="6280057-0-106-117">beta-globin</span> gene cluster. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D014947 | null | null | trauma | 100324027 | null | pO2 | null | 28,000,769 | The pO2/FiO2 ratio in trauma animals decreased over the observation period (p < 0.0001) but not in the sham group (p = 0.2967). | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 11910 | null | ATF3 | null | 28,082,453 | The role of ATF3 in diabetic cardiomyopathy is currently unknown. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 1476747 | null | MK-0646 | null | 28,020,343 | CONCLUSIONS: The addition of MK-0646 to Cx and Ir worsened PFS and OS in pts with chemorefractory wt KRAS mCRC. | null | null | null |
null | null | Negative | MESH:D018205 | null | null | white adipose tissue | 100035194 | null | Pbwg1.5 | null | 28,114,323 | Pbwg1.5, a quantitative trait locus (QTL) for resistance to obesity, was previously discovered from wild Mus musculus castaneus mice and was fine-mapped to a 2.1-Mb genomic region of mouse chromosome 2, where no known gene with an effect on white adipose tissue (WAT) has been reported. | null | null | null |
null | null | Negative | MESH:D009902 | null | null | Optic neuritis | 361 | null | anti-aquaporin 4 | null | 28,125,740 | BACKGROUND: Optic neuritis (ON) in patients with anti-myelin oligodendrocyte glycoprotein (MOG)-IgG antibodies has been associated with a better clinical outcome than anti-aquaporin 4 (AQP4)- IgG ON. | null | null | null |
null | null | Negative | MESH:C536528 | null | null | real-world conditions | 759 | null | CA1 | null | 28,174,334 | Using functional molecular imaging, we observe that navigation in virtual environments elicits activity in fewer CA1 neurons relative to real-world conditions. | null | null | null |
null | null | Negative | MESH:D013167 | null | null | AS | 3645 | null | IRR | null | 28,214,371 | RESULTS: There was an increased risk of depression in the three cohorts; adjusted IRR: psoriasis, 1.14 (95% CI, 1.11, 1.17); PsA, 1.22 (95% CI, 1.16, 1.29); AS, 1.34 (95% CI, 1.23, 1.47). | null | null | null |
null | null | Negative | OMIM:168600 | null | null | PD | 7124 | null | hTNF | null | 28,023,157 | In arm A, NGR-hTNF was administered until progression (PD). | null | null | null |
null | null | Negative | MESH:D018290 | null | null | CIN | 4049 | null | TNF-b | null | 28,009,429 | RESULTS: There was an association between the expression levels of TLR2 and those of TNF-a and TNF-b (p = 0.01 and p = 0.021, respectively) in the cervical cancer and CIN groups. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | GT | 672 | null | BRCA | null | 28,093,663 | A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. | null | null | null |
1 | 0 | Biomarker | C0025500 | Mesothelioma | disease | mesothelioma | 1029 | CDKN2A | p16INK4a | CTD_human | 18,379,362 | Response to the methylation inhibitor dihydro-5-azacytidine in mesothelioma is not associated with methylation of p16INK4a: results of cancer and leukemia group B 159904. | 0.222195 | Response to the methylation inhibitor dihydro-5-azacytidine in <span class="disease" id="18379362-0-63-75">mesothelioma</span> is not associated with methylation of <span class="gene" id="18379362-0-114-122">p16INK4a</span>: results of cancer and leukemia group B 159904. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 216799 | null | NLRP3 | null | 28,004,759 | For the first time, these data show that TREM-1 aggravates inflammation in ALI by activating NLRP3 inflammasome, and blocking TREM-1 may be a potential therapeutic approach for ALI. | null | null | null |
8 | 0 | Biomarker | C0017658 | Glomerulonephritis | disease | glomerulonephritis | 213 | ALB | Serum Albumin | CTD_human | 17,161,813 | The effect of APS on glomerulonephritis rats induced by cationic Bovine Serum Albumin(C-BSA) was evaluated by flow cytometry using Nuclear Transcription Factor-kappaB (NF-kappaB) as marker. | 0.200824 | The effect of APS on <span class="disease" id="17161813-3-21-39">glomerulonephritis</span> rats induced by cationic Bovine <span class="gene" id="17161813-3-72-85">Serum Albumin</span>(C-BSA) was evaluated by flow cytometry using Nuclear Transcription Factor-kappaB (NF-kappaB) as marker. | CTD_human |
null | null | Negative | MESH:D001284 | null | null | intestinal mucosal atrophy | 24599 | null | iNOS | null | 28,195,513 | We investigated the effects of endogenous inducible (iNOS) and neuronal nitric oxide synthase on recovery from intestinal mucosal atrophy caused by fasting-induced apoptosis and decreased cell proliferation during refeeding in rats. | null | null | null |
null | null | Negative | MESH:D008113 | null | null | carcinogen-induced liver cancer | 12367 | null | caspase-3 | null | 28,150,874 | These results indicate that the caspase-3/p120 RasGAP stress-sensing module impacts on carcinogen-induced liver cancer incidence but not sufficiently so as to affect overall survival. | null | null | null |
null | null | Negative | MESH:D013274 | null | null | GC | 20848 | null | STAT3 | null | 28,182,003 | Here we show that luteolin selectively kills STAT3 overactivated GC cells that are often drug resistant. | null | null | null |
null | null | Negative | MESH:D018149 | null | null | glucose intolerance | 24952 | null | GLP-1 | null | 28,161,724 | PURPOSE: Increasing secretion and production of glucagon-like peptide-1 (GLP-1) by continuous ingestion of certain food components has been expected to prevent glucose intolerance and obesity. | null | null | null |
null | null | Negative | MESH:D008107 | null | null | hallmark of chronic liver disease | 18208 | null | netrin-1 | null | 28,174,720 | CONCLUSIONS: UPR-resistant, internal ribosome entry site-driven netrin-1 translation leads to the inhibition of uncoordinated phenotype-5/death-associated protein kinase 1-mediated apoptosis in the hepatic context during UPR, a hallmark of chronic liver disease. | null | null | null |
2 | 0 | Therapeutic | C0242350 | Erectile dysfunction | disease | erectile dysfunction | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 17,071,732 | Mesenchymal stem cells alone or ex vivo gene modified with endothelial nitric oxide synthase reverse age-associated erectile dysfunction. | 0.226883 | Mesenchymal stem cells alone or ex vivo gene modified with <span class="gene" id="17071732-0-59-92">endothelial nitric oxide synthase</span> reverse age-associated <span class="disease" id="17071732-0-116-136">erectile dysfunction</span>. | CTD_human |
4 | 0 | Biomarker | C0018801 | Heart failure | disease | Heart failure | 7124 | TNF | TNF-alpha | CTD_human | 15,135,663 | Heart failure may in fact be accentuated by a downregulation of myocardial TNF-alpha. | 0.303871 | <span class="disease" id="15135663-15-0-13">Heart failure</span> may in fact be accentuated by a downregulation of myocardial <span class="gene" id="15135663-15-75-84">TNF-alpha</span>. | CTD_human |
null | null | Negative | MESH:D007966 | null | null | leukodystrophy | 57165 | null | connexin 47 | null | 28,100,454 | Pelizaeus-Merzbacher-like disease or hypomyelinating leukodystrophy-2 is an autosomal recessively inherited leukodystrophy with childhood onset resulting from mutations in the gene encoding the gap junction protein connexin 47 (Cx47, encoded by GJC2). | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 22339 | null | vascular endothelial growth factor | null | 28,102,062 | The expression of vascular endothelial growth factor (VEGF), an important mediator for inflammation and angiogenesis, decreased in IL-17 knockout mice, showing the relationship between IL-17 and VEGF. | null | null | null |
6 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 5021 | OXTR | OXTR | CTD_human | 17,893,705 | Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. | 0.226334 | Association between the <span class="gene" id="17893705-0-24-41">oxytocin receptor</span> (<span class="gene" id="17893705-0-43-47">OXTR</span>) gene and <span class="disease" id="17893705-0-58-64">autism</span>: relationship to Vineland Adaptive Behavior Scales and cognition. | CTD_human |
null | null | Negative | MESH:D010538 | null | null | peritonitis | 13051 | null | CX3C-chemokine receptor 1 | null | 28,011,675 | Upon lipopolysaccharide or cecal ligation and puncture-induced peritonitis, these marginated cells are rapidly released and recruited to the peritoneum membrane lumen vasculature where they reside through CX3C-chemokine receptor 1 (CX3CR1)-dependent adherence. | null | null | null |
null | null | Negative | MESH:D020065 | null | null | hepatopulmonary syndrome | 81736 | null | NFkB | null | 28,009,008 | UNASSIGNED: Thalidomide can modulate the TNFa-NFkB and iNOS pathway, which involve in the pathogenesis of hepatopulmonary syndrome (HPS) and muscle wasting in cirrhosis. | null | null | null |
null | null | Negative | MESH:D054069 | null | null | EMA | 4089 | null | SMAD4 | null | 28,020,743 | RESULTS: The SVM model integrates three clinicopathologic features (tumor diameter, preoperative hemoglobin level, adjuvant chemotherapy ) and 24 immunomarkers (Survivin, cmyc, CD44v6, MMP7, CK19, P16, PTEN, TIMP1, CyclinE, MMP2, SMAD4, VEGF, MUC2, Ecadherin, Her2, CK20, P27, APC, CD147, cmet, COX2, CDX2, MGMT, EMA). | null | null | null |
1 | 0 | Biomarker | C0745744 | End Stage Liver Disease | disease | chronic liver failure | 5244 | ABCB4 | Mdr2 | CTD_human | 22,022,477 | Hepatocyte IKK2 protects Mdr2-/- mice from chronic liver failure. | 0.200275 | Hepatocyte IKK2 protects <span class="gene" id="22022477-0-25-29">Mdr2</span>-/- mice from <span class="disease" id="22022477-0-43-64">chronic liver failure</span>. | CTD_human |
null | null | Negative | MESH:D002779 | null | null | cholestasis | 16396 | null | itch | null | 28,176,353 | ABSTRACT: Intractable and continuous itch sensations often accompany diseases such as atopic dermatitis, neurogenic lesions, uremia and cholestasis. | null | null | null |
null | null | Negative | MESH:D012871 | null | null | skin disorder | 3497 | null | IgE | null | 28,057,434 | Atopic dermatitis (AD) is a chronic or chronically relapsing, eczematous, severely pruritic skin disorder mostly associated with IgE elevation and skin barrier dysfunction due to decreased filaggrin expression. | null | null | null |
1 | 0 | Biomarker | C1134719 | Invasive Ductal Breast Carcinoma | disease | ductal invasive breast carcinoma | 5743 | PTGS2 | COX-2 | CTD_human | 21,153,458 | Methylation status and overexpression of COX-2 in Tunisian patients with ductal invasive breast carcinoma. | 0.201648 | Methylation status and overexpression of <span class="gene" id="21153458-0-41-46">COX-2</span> in Tunisian patients with <span class="disease" id="21153458-0-73-105">ductal invasive breast carcinoma</span>. | CTD_human |
null | null | Negative | MESH:D007020 | null | null | corticotropin-releasing factor | 16176 | null | interleukin-1b | null | 28,002,791 | On the last day, all mice were sacrificed and xenograft tissues homogenate and plasma levels of b-endorphin (b-END), corticotropin-releasing factor (CRF) and interleukin-1b (IL-1b) were assessed by ELISA assay. | null | null | null |
1 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 2944 | GSTM1 | Gstm1 | CTD_human | 19,822,795 | Genetic variants that cause a decremental change in expression of Gstm1 may permit an environment of exaggerated oxidative stress, leading to susceptibility to vascular remodeling and atherosclerosis. | 0.220905 | Genetic variants that cause a decremental change in expression of <span class="gene" id="19822795-11-66-71">Gstm1</span> may permit an environment of exaggerated oxidative stress, leading to susceptibility to vascular remodeling and <span class="disease" id="19822795-11-184-199">atherosclerosis</span>. | CTD_human |
null | null | Negative | MESH:C535296 | null | null | recombinant inbred lines | 822415 | null | gl1 | null | 28,207,056 | In this study, we performed a quantitative trait locus (QTL) analysis in Arabidopsis to identify novel candidate genes for increased submergence tolerance by using Kas-1 and Col (gl1) parental accessions and their derived recombinant inbred lines (RILs). | null | null | null |
1 | 0 | Biomarker | C0014859 | Esophageal Neoplasms | group | esophageal cancer | 595 | CCND1 | cyclin D1 | CTD_human | 12,235,107 | Whereas L2D1(+) mice exhibit a histologic phenotype of oral-esophageal dysplasia, the combination of cyclin D1 expression and p53 deficiency results in invasive oral-esophageal cancer. | 0.227153 | Whereas L2D1(+) mice exhibit a histologic phenotype of oral-esophageal dysplasia, the combination of <span class="gene" id="12235107-5-101-110">cyclin D1</span> expression and p53 deficiency results in invasive oral-<span class="disease" id="12235107-5-166-183">esophageal cancer</span>. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | overall survival | 10178 | null | TNM | null | 28,036,277 | To determine the effect of DJ-1 on HCC development, we accessed the correlation of hepatic DJ-1 expression with overall survival (OS) and TNM stage in 96 HCC patients and found a significant inverse correlation between DJ-1 expression and OS. | null | null | null |
2 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumours | 400500 | BCAR4 | BCAR4 | CTD_human | 20,859,285 | Our cell model suggests that BCAR4-positive breast tumours are driven by ERBB2/ERBB3 signalling. | 0.203282 | Our cell model suggests that <span class="gene" id="20859285-11-29-34">BCAR4</span>-positive <span class="disease" id="20859285-11-44-58">breast tumours</span> are driven by ERBB2/ERBB3 signalling. | CTD_human |
null | null | Negative | MESH:D013167 | null | null | axial spondyloarthritis | 653509 | null | SpA | null | 28,099,816 | INTRODUCTION: Ankylosing spondylitis (AS) and axial spondyloarthritis (ax SpA) are chronic inflammatory diseases mainly involving the axial skeleton. | null | null | null |
2 | 1 | Biomarker | C0856761 | Budd-Chiari Syndrome | disease | BCS | 3717 | JAK2 | JAK2 | CTD_human | 19,293,426 | ECs of the other BCS patient with PV and 2 patients with hepatoportal sclerosis without PV contained exclusively wild-type JAK2. | 0.616207 | ECs of the other <span class="disease" id="19293426-6-17-20">BCS</span> patient with PV and 2 patients with hepatoportal sclerosis without PV contained exclusively wild-type <span class="gene" id="19293426-6-123-127">JAK2</span>. | CTD_human;HPO;ORPHANET |
1 | 0 | Biomarker | C1970431 | PITT-HOPKINS SYNDROME | disease | Pitt-Hopkins syndrome | 26047 | CNTNAP2 | CNTNAP2 | CTD_human | 19,896,112 | We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome. | 0.201099 | We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in <span class="gene" id="19896112-2-133-140">CNTNAP2</span> and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with <span class="disease" id="19896112-2-321-342">Pitt-Hopkins syndrome</span>. | CTD_human |
null | null | Negative | MESH:C538336 | null | null | NHS | 5954 | null | RCN | null | 28,044,835 | UNASSIGNED: The RCN has disputed claims by health secretary Andrew Lansley that the downbanding of NHS staff is 'not an issue' for the college. | null | null | null |
null | null | Negative | MESH:D028361 | null | null | mitochondrial damage | 234847 | null | paraplegin | null | 28,131,770 | Furthermore, whether lisuride can alleviate mitochondrial damage of DAergic neurons induced by 6-OHDA, we investigated the expression of the mitochondrial regulatory protein, paraplegin, and changes in mitochondria morphology. | null | null | null |
6 | 0 | Biomarker | C0019243 | Angioedemas, Hereditary | disease | HAE | 710 | SERPING1 | C1-INH | CTD_human | 23,866,957 | Acute attacks, which may occur many hours after a procedure, may be treated with C1-INH; icatibant, a bradykinin B2-receptor antagonist; or ecallantide, a kallikrein inhibitor, all of which have been shown to reduce the duration and severity of HAE attacks. | 0.247499 | Acute attacks, which may occur many hours after a procedure, may be treated with <span class="gene" id="23866957-9-81-87">C1-INH</span>; icatibant, a bradykinin B2-receptor antagonist; or ecallantide, a kallikrein inhibitor, all of which have been shown to reduce the duration and severity of <span class="disease" id="23866957-9-245-248">HAE</span> attacks. | CTD_human |
null | null | Negative | MESH:D056486 | null | null | decreased hepatic inflammation | 16193 | null | IL-6 | null | 28,036,277 | By adopting a classic diethylnitrosamine (DEN)-induced murine HCC model, DJ-1 knockout (KO) mice displayed reduced tumorigenesis and cell proliferation, accompanied by decreased hepatic inflammation and IL-6/STAT3 activation. | null | null | null |
null | null | Negative | MESH:D006526 | null | null | clearance of hepatitis C virus (HCV) infection | 101180976 | null | IFNL4 | null | 28,057,801 | BACKGROUND: The IFNL4 rs368234815 polymorphism plays a prominent role in spontaneous and treatment-induced clearance of hepatitis C virus (HCV) infection. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 652070 | null | scFv | null | 28,049,896 | Human epidermal growth factor receptor 2 (EGFR2; HER2) was selected as a target molecule, and we designed IONPs (20, 50, and 100 nm) conjugated with anti-HER2 moieties [whole IgG (trastuzumab), single-chain fragment variable (scFv), and peptide] for HER2-targeted tumor imaging. | null | null | null |
2 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 183 | AGT | angiotensin II | CTD_human | 21,925,196 | Polychlorinated biphenyl 77 augments angiotensin II-induced atherosclerosis and abdominal aortic aneurysms in male apolipoprotein E deficient mice. | 0.321848 | Polychlorinated biphenyl 77 augments <span class="gene" id="21925196-0-37-51">angiotensin II</span>-induced <span class="disease" id="21925196-0-60-75">atherosclerosis</span> and abdominal aortic aneurysms in male apolipoprotein E deficient mice. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 81897 | null | TLR9 | null | 28,014,890 | CPG 7909 crossreacts with mouse TLR9 and has shown impressive antitumor activity in preclinical tumor models when used as monotherapy. | null | null | null |
null | null | Negative | MESH:D018512 | null | null | parasitemia | 1593 | null | CTX | null | 28,077,587 | Rates, quantity, and timing of parasitemia rebound following CTX remain undefined. | null | null | null |
2 | 0 | Therapeutic | C0013386 | Dyskinesia, Drug-Induced | disease | drug-induced dyskinesia | 8787 | RGS9 | RGS9 | CTD_human | 24,663,062 | These changes are compatible with a Ca2+-induced potentiation of dopamine receptor signaling which may contribute to the drug-induced dyskinesia in RGS9-deficient mice. | 0.2 | These changes are compatible with a Ca2+-induced potentiation of dopamine receptor signaling which may contribute to the <span class="disease" id="24663062-12-121-144">drug-induced dyskinesia</span> in <span class="gene" id="24663062-12-148-152">RGS9</span>-deficient mice. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | diabetic | 81687 | null | matrix metalloproteinase-9 | null | 28,176,375 | In conclusion, while STAT3 regulates matrix metalloproteinase-9 and connective tissue growth factor expression in diabetic rats with cardiac fibrosis, cryptotanshinone inhibited fibrosis to improve cardiac function by suppressing the STAT3 pathway. | null | null | null |
1 | 0 | Biomarker | C0024796 | Marfan Syndrome | disease | MV | 6647 | SOD1 | SOD | CTD_human | 25,101,153 | Laminin ?-1 was decreased in MV and increased in M. In conclusion, similarities and differences in oxidative stress in the different aortopathies studied including pathologies with aneurysms were found with alterations in SOD, CAT, GPx, GST, and eNOS activity that modify subendothelial basement membrane proteins. | 0.2 | Laminin γ-1 was decreased in <span class="disease" id="25101153-8-29-31">MV</span> and increased in M. In conclusion, similarities and differences in oxidative stress in the different aortopathies studied including pathologies with aneurysms were found with alterations in <span class="gene" id="25101153-8-222-225">SOD</span>, CAT, GPx, GST, and eNOS activity that modify subendothelial basement membrane proteins. | CTD_human |
1 | 0 | Biomarker | C0011991 | Diarrhea | phenotype | diarrhea | 2984 | GUCY2C | GUCY2C | CTD_human | 22,436,048 | Familial diarrhea syndrome caused by an activating GUCY2C mutation. | 0.400275 | Familial <span class="disease" id="22436048-0-9-17">diarrhea</span> syndrome caused by an activating <span class="gene" id="22436048-0-51-57">GUCY2C</span> mutation. | CTD_human;HPO |