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2 | 0 | Biomarker | C0043459 | Zellweger Syndrome | disease | H-02 | 5194 | PEX13 | PEX13 | CTD_human | 10,332,040 | We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p), rescues peroxisomal matrix protein import and its assembly in fibroblasts from PBD patients of complementation group H. In addition, we detected mutations on the human PEX13 cDNA in two patients of group H. A severe phenotype of a ZS patient (H-02) was homozygous for a nonsense mutation, W234ter, which results in the loss of not only the SH3 domain but also the putative transmembrane domain of Pex13p. | 0.400549 | We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p), rescues peroxisomal matrix protein import and its assembly in fibroblasts from PBD patients of complementation group H. In addition, we detected mutations on the human <span class="gene" id="10332040-3-326-331">PEX13</span> cDNA in two patients of group H. A severe phenotype of a <span class="disease" id="10332040-3-389-391">ZS</span> patient (<span class="disease" id="10332040-3-401-405">H-02</span>) was homozygous for a nonsense mutation, W234ter, which results in the loss of not only the SH3 domain but also the putative transmembrane domain of Pex13p. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0010346 | Crohn Disease | disease | Crohn's disease | 3593 | IL12B | IL12B | CTD_human | 18,438,406 | We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. | 0.219113 | We also show that several risk loci are common to ulcerative colitis and <span class="disease" id="18438406-2-73-88">Crohn's disease</span> (IL23R, <span class="gene" id="18438406-2-97-102">IL12B</span>, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for <span class="disease" id="18438406-2-226-241">Crohn's disease</span>. | CTD_human |
null | null | Negative | MESH:D000012 | null | null | ABL | 6714 | null | SRC | null | 28,021,072 | UNASSIGNED: 10006 Background: Dasatinib is an oral tyrosine kinase inhibitor of KIT, PDGFR, ABL and SRC with a distinct binding affinity for KIT and PDGFR. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor a | 171293 | null | cathepsin D | null | 28,061,403 | It also significantly restored hippocampal level of reactive oxygen species (ROS), glutathione (GSH), nuclear factor (erythroid-derived 2)-like 2 (Nrf2), activity of catalase and caspase 3, nuclear factor-<kappa>B (NF-kB), toll-like receptor 4 (TLR4), tumor necrosis factor a (TNFa), interleukin-1b (IL-1b), neural cell adhesion molecule (NCAM), glial fibrillary acidic protein (GFAP), cathepsin D, and heme oxygenase 1 (HO-1). | null | null | null |
null | null | Negative | MESH:D002545 | null | null | cerebral ischemia | 81687 | null | MMP-9 | null | 28,059,805 | Finally, the induction of MMP-2 and MMP-9 by cerebral ischemia was partially blocked by crocin in aged rats. | null | null | null |
1 | 0 | Biomarker | C0079744 | Diffuse Large B-Cell Lymphoma | disease | diffuse large cell lymphoma | 567 | B2M | beta 2 microglobulin | CTD_human | 7,688,627 | Value of serum beta 2 microglobulin as an indicator of early relapse in diffuse large cell lymphoma. | 0.200549 | Value of serum <span class="gene" id="7688627-0-15-35">beta 2 microglobulin</span> as an indicator of early relapse in <span class="disease" id="7688627-0-72-99">diffuse large cell lymphoma</span>. | CTD_human |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | Hepatocellular Carcinoma | 7099 | TLR4 | Toll-like Receptor 4 | CTD_human | 27,022,031 | Toll-like Receptor 4 on Macrophage Promotes the Development of Steatohepatitis-related Hepatocellular Carcinoma in Mice. | 0.203022 | <span class="gene" id="27022031-0-0-20">Toll-like Receptor 4</span> on Macrophage Promotes the Development of Steatohepatitis-related <span class="disease" id="27022031-0-87-111">Hepatocellular Carcinoma</span> in Mice. | CTD_human |
1 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5728 | PTEN | PTEN | CTD_human | 15,646,324 | The findings indicated that the expression of PTEN is reduced in hypertensive aorta, that the reduced PTEN experession can be reversed by captopril treatment, that AngII and the increased mechanical strain may participate in regulating expression of PTEN, and that PTEN may play a role in the arterial remodeling induced by hypertension. | 0.2 | The findings indicated that the expression of <span class="gene" id="15646324-9-46-50">PTEN</span> is reduced in hypertensive aorta, that the reduced <span class="gene" id="15646324-9-102-106">PTEN</span> experession can be reversed by captopril treatment, that AngII and the increased mechanical strain may participate in regulating expression of <span class="gene" id="15646324-9-250-254">PTEN</span>, and that <span class="gene" id="15646324-9-265-269">PTEN</span> may play a role in the arterial remodeling induced by <span class="disease" id="15646324-9-324-336">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D010300 | null | null | Familial forms of Parkinson's disease | 31607 | null | PINK1 | null | 28,011,627 | Familial forms of Parkinson's disease (PD) caused by mutations in PINK1 are linked to mitochondrial impairment. | null | null | null |
1 | 0 | Biomarker | C0001430 | Adenoma | group | adenoma | 7296 | TXNRD1 | TXNRD1 | CTD_human | 18,483,336 | Consistent with the individual SNP results, we observed a significant overall association with adenoma risk for SEPP1 and TXNRD1 (global P = 0.02 and 0.008, respectively) but not for the four GPX genes. | 0.205415 | Consistent with the individual SNP results, we observed a significant overall association with <span class="disease" id="18483336-10-95-102">adenoma</span> risk for SEPP1 and <span class="gene" id="18483336-10-122-128">TXNRD1</span> (global P = 0.02 and 0.008, respectively) but not for the four GPX genes. | CTD_human |
1 | 0 | Biomarker | C0020615 | Hypoglycemia | disease | hypoglycaemia | 6927 | HNF1A | MODY3 | CTD_human | 15,787,664 | Diabetic subjects with mutations in the gene encoding hepatocyte nuclear factor (HNF)-1alpha (MODY3) are prone to develop hypoglycaemia at low doses of glibenclamide, interpreted as sulphonylurea hypersensitivity. | 0.201648 | Diabetic subjects with mutations in the gene encoding hepatocyte nuclear factor (HNF)-1alpha (<span class="gene" id="15787664-1-94-99">MODY3</span>) are prone to develop <span class="disease" id="15787664-1-122-135">hypoglycaemia</span> at low doses of glibenclamide, interpreted as sulphonylurea hypersensitivity. | CTD_human |
4 | 0 | Biomarker | C0009375 | Colonic Neoplasms | group | colon tumor | 595 | CCND1 | cyclin D1 | CTD_human | 21,081,470 | Western blots revealed overexpression of ?-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and cyclooxygenase-2 in colon tumor samples. | 0.201648 | Western blots revealed overexpression of β-catenin, c-Myc, <span class="gene" id="21081470-8-59-68">cyclin D1</span>, inducible nitric oxide synthase and cyclooxygenase-2 in <span class="disease" id="21081470-8-126-137">colon tumor</span> samples. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumour | 22060 | null | p53 | null | 28,066,899 | These phenotypes coincided with an increased apoptosis and preferential up-regulation of p53 tumour suppressor protein in CD8+ T cells. | null | null | null |
null | null | Negative | MESH:D018205 | null | null | AT | 16163 | null | IL-13 | null | 28,193,830 | We show that exposure of AT to Th2 cytokines, such as IL-4, IL-13, and GM-CSF, stimulates ATM proliferation, whereas Th1 cytokines, such as TNF-a, inhibit local ATM proliferation. | null | null | null |
null | null | Negative | MESH:D001404 | null | null | Babesia | 101091522 | null | paraoxonase-1 | null | 28,160,310 | OBJECTIVES: The purpose of the study was to investigate the concentrations of serum amyloid A (SAA), haptoglobin (Hp), and paraoxonase-1 (PON1) in cats naturally infected with Hepatozoon felis and Babesia vogeli. | null | null | null |
null | null | Negative | MESH:D000544 | null | null | Alzheimer's disease | 4225 | null | meprin b | null | 28,105,004 | The latter event was discussed to be rather neuroprotective, whereas the ectodomain shedding of APP by meprin b reminiscent to BACE-1 is in line with the amyloid hypothesis of Alzheimer's disease, promoting neurodegeneration. | null | null | null |
null | null | Negative | MESH:D003876 | null | null | AD lesions | 77125 | null | IL-33 | null | 28,063,040 | Moreover, the expression of alarmins such as TSLP, IL-33, and IL-25 is upregulated in acute AD lesions. | null | null | null |
22 | 114 | Biomarker | C0271829 | Pendred's syndrome | disease | PDS | 5172 | SLC26A4 | pendrin | CTD_human | 10,644,529 | The gene causing Pendred syndrome (PDS) encodes a protein designated pendrin, which is expressed in the thyroid, kidney, and fetal cochlea. | 0.721287 | The gene causing <span class="disease" id="10644529-2-17-33">Pendred syndrome</span> (<span class="disease" id="10644529-2-35-38">PDS</span>) encodes a protein designated <span class="gene" id="10644529-2-69-76">pendrin</span>, which is expressed in the thyroid, kidney, and fetal cochlea. | CTD_human;ORPHANET;UNIPROT |
35 | 0 | Therapeutic | C0027051 | Myocardial Infarction | disease | myocardial infarction | 5327 | PLAT | alteplase | CTD_human | 19,341,228 | The patients with myocardial infarction after administration of alteplase had statistically significantly higher coronary flow (TIMI-3), 72.5% as compared to the patients who received streptokinase, 39.2%. | 0.213027 | The patients with <span class="disease" id="19341228-6-18-39">myocardial infarction</span> after administration of <span class="gene" id="19341228-6-64-73">alteplase</span> had statistically significantly higher coronary flow (TIMI-3), 72.5% as compared to the patients who received streptokinase, 39.2%. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | malignancies | 22060 | null | p53 | null | 28,155,209 | Because p53 function is depressed in most malignancies, if MSCs in malignancy also have p53 hypofunction, differentiation therapy to osteogenic or adipogenic lineage may be an effective treatment. | null | null | null |
3 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 639 | PRDM1 | PRDM1 | CTD_human | 19,898,481 | Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. | 0.205638 | Genetic variants at CD28, <span class="gene" id="19898481-0-26-31">PRDM1</span> and CD2/CD58 are associated with <span class="disease" id="19898481-0-65-85">rheumatoid arthritis</span> risk. | CTD_human |
null | null | Negative | MESH:D000592 | null | null | OA | 2641 | null | glucagon-like-peptide 1 | null | 28,153,094 | Here, we utilized the congruent pharmacological activities of OA and glucagon-like-peptide 1 (GLP-1) in relieving IR and improving liver and pancreas functions and used a synthetic-biology-inspired design principle to engineer a therapeutic gene circuit that enables a concerted action of both drugs. | null | null | null |
null | null | Negative | MESH:D001169 | null | null | CIA | 12482 | null | CD20 | null | 28,094,754 | Human umbilical cord MSC, anti-TNF antibody, rhTNFR:Fc fusion protein and anti-CD20 antibody were respectively injected intraperitoneally into CIA mice. | null | null | null |
null | null | Negative | MESH:C536766 | null | null | glycogen synthesis | 85243 | null | phosphatidylinositol-3-kinase | null | 28,134,520 | RT-PCR and Western blotting analyses suggested that the SBFO extract could promote the expression of phosphatidylinositol-3-kinase (PI3K) and glycogen synthesis (GS) while inhibiting the expression of glycogen synthesis kinase-3b (GSK-3b). | null | null | null |
null | null | Negative | MESH:D018235 | null | null | ASM | 80332 | null | ADAM33 | null | 28,056,993 | ADAM33, which is expressed in ASM cells, is suggested to play a role in the function of these cells. | null | null | null |
27 | 1 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's disease | 6622 | SNCA | alpha-synuclein | CTD_human | 12,732,244 | In humans, mutations in the alpha-synuclein gene or exposure to the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) produce Parkinson's disease with loss of dopaminergic neurons and depletion of nigrostriatal dopamine. alpha-Synuclein is a vertebrate-specific component of presynaptic nerve terminals that may function in modulating synaptic transmission. | 0.44 | In humans, mutations in the <span class="gene" id="12732244-1-28-43">alpha-synuclein</span> gene or exposure to the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) produce <span class="disease" id="12732244-1-139-158">Parkinson's disease</span> with loss of dopaminergic neurons and depletion of nigrostriatal dopamine. alpha-Synuclein is a vertebrate-specific component of presynaptic nerve terminals that may function in modulating synaptic transmission. | CTD_human |
null | null | Negative | MESH:D014085 | null | null | TEM | 20344 | null | P-selectin | null | 28,104,442 | Pharmacologic inhibition or knockdown of endothelial P-selectin blocks EP4-mediated cancer cell TEM, and inhibition of P-selectin prevents RCC tumor intravasation in CAM assay. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild type | 50873 | null | Park2 | null | 28,086,194 | Male Park2 wild type (WT) and KO mice (8 weeks old) were fed on a Lieber-DeCarli diet containing 6.6% ethanol for 2 weeks, and compared their responses. | null | null | null |
null | null | Negative | MESH:D013224 | null | null | asthmatic | 18843 | null | BPIFA1 | null | 28,165,446 | Here we show that BPIFA1 levels are reduced in sputum samples from asthmatic patients and that BPIFA1 is secreted basolaterally from healthy, but not asthmatic human bronchial epithelial cultures (HBECs), where it suppresses ASM contractility by binding to and inhibiting the Ca(2+) influx channel Orai1. | null | null | null |
3 | 5 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 149233 | IL23R | IL23R | CTD_human | 18,438,406 | We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. | 0.278605 | We also show that several risk loci are common to <span class="disease" id="18438406-2-50-68">ulcerative colitis</span> and Crohn's disease (<span class="gene" id="18438406-2-90-95">IL23R</span>, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. | CTD_human |
5 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 11,457,755 | Insulin resistance, hyperlipidemia, and hypertension in mice lacking endothelial nitric oxide synthase. | 0.353426 | Insulin resistance, hyperlipidemia, and <span class="disease" id="11457755-0-40-52">hypertension</span> in mice lacking <span class="gene" id="11457755-0-69-102">endothelial nitric oxide synthase</span>. | CTD_human |
1 | 0 | Biomarker | C0033626 | Protein Deficiency | disease | Protein deficiency | 847 | CAT | catalase | CTD_human | 15,865,262 | Protein deficiency in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation. | 0.2 | <span class="disease" id="15865262-5-0-18">Protein deficiency</span> in normal rats resulted in a significant increase in hepatic activities of <span class="gene" id="15865262-5-94-102">catalase</span>, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation. | CTD_human |
null | null | Negative | MESH:C562593 | null | null | XPG | 7508 | null | XPC | null | 28,185,850 | Our results show that a short DNase I treatment before the immunoreaction, enhances the fluorescence signal of NER proteins, such as XPG, DDB2 and XPC. | null | null | null |
null | null | Negative | MESH:D014552 | null | null | urinary tract infections | 6717 | null | Sri | null | 28,187,754 | The objective of this study was to evaluate urinary tract infections caused by ESBL producers and the antibiotic susceptibility patterns in Sri Lanka. | null | null | null |
3 | 47 | Biomarker | C0398791 | Nijmegen Breakage Syndrome | disease | NBS | 4683 | NBN | NBS1 | CTD_human | 17,395,558 | We describe a patient with a NBS clinical phenotype, chromosomal sensitivity to X-rays but without mutations in the whole NBS1 or in the Cernunnos gene. | 0.53733 | We describe a patient with a <span class="disease" id="17395558-6-29-32">NBS</span> clinical phenotype, chromosomal sensitivity to X-rays but without mutations in the whole <span class="gene" id="17395558-6-122-126">NBS1</span> or in the Cernunnos gene. | CTD_human;ORPHANET |
null | null | Negative | MESH:D006980 | null | null | hyperthyroid | 363287 | null | HDAC4 | null | 28,063,219 | In vivo experiments confirmed the downregulation of miR-1 in cardiac tissue from hyperthyroid animals, which was accompanied by increased HDAC4 mRNA levels. | null | null | null |
null | null | Negative | MESH:D001523 | null | null | Parkinson-like behaviors | 21823 | null | tyrosine hydroxylase | null | 28,025,041 | The present study examined age and sex difference in tyrosine hydroxylase (TH) expression and dopamine-dependent and Parkinson-like behaviors following LPS treatment. | null | null | null |
35 | 277 | Biomarker | C0035372 | Rett Syndrome | disease | RTT | 4204 | MECP2 | MECP2 | CTD_human | 19,190,538 | Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene. | 0.92 | <span class="disease" id="19190538-1-0-13">Rett Syndrome</span> (<span class="disease" id="19190538-1-15-18">RTT</span>) is caused in more than 60% of cases by nonsense mutations in the <span class="gene" id="19190538-1-85-90">MECP2</span> gene. | CTD_human;ORPHANET;UNIPROT |
10 | 3 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 120892 | LRRK2 | LRRK2 | CTD_human | 23,017,109 | We report that adult neurogenesis is highly susceptible to multiple "risk factors" for PD, including ?-synuclein accumulation, LRRK2 G2019 mutation and exposure to environmental toxins. | 0.44 | We report that adult neurogenesis is highly susceptible to multiple "risk factors" for <span class="disease" id="23017109-11-87-89">PD</span>, including α-synuclein accumulation, <span class="gene" id="23017109-11-127-132">LRRK2</span> G2019 mutation and exposure to environmental toxins. | CTD_human |
null | null | Negative | MESH:D064419 | null | null | CID | 25109 | null | rCD1 | null | 28,063,490 | We provide detailed protocols for rCD1 synthesis, CID component expression in and delivery to mammalian cells and the determination of enzyme kinetics inside intact cells by a specially designed image acquisition and data analysis method. | null | null | null |
null | null | Negative | MESH:D008175 | null | null | spread of lung cancer | 13649 | null | epidermal growth factor receptors | null | 28,015,089 | UNASSIGNED: 7362 Background: Activated epidermal growth factor receptors (EGFR) and cyclooxygenase-2 (COX-2) enzyme play a related role in growth, apoptosis, angiogenesis, and metastatic spread of lung cancer. | null | null | null |
null | null | Negative | MESH:D008380 | null | null | Marek's disease | 777930 | null | miR-155 | null | 28,113,043 | We also showed that v-rel could rescue the suppression of miR-155 expression observed in Marek's disease virus (MDV)-transformed cell lines, where its functional viral homologue MDV-miR-M4 is overexpressed. | null | null | null |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 8200 | GDF5 | GDF-5 | CTD_human | 18,830,904 | Modulatory effects of inflammation and therapy on GDF-5 expression in rheumatoid arthritis synovium. | 0.203008 | Modulatory effects of inflammation and therapy on <span class="gene" id="18830904-0-50-55">GDF-5</span> expression in <span class="disease" id="18830904-0-70-90">rheumatoid arthritis</span> synovium. | CTD_human |
1 | 0 | Biomarker | C0010692 | Cystitis | disease | inflammation of bladder | 4803 | NGF | NGF | CTD_human | 16,889,433 | Overexpression of NGF is known to mediate inflammation of bladder in this model. | 0.280549 | Overexpression of <span class="gene" id="16889433-6-18-21">NGF</span> is known to mediate <span class="disease" id="16889433-6-42-65">inflammation of bladder</span> in this model. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | chronic inflammation | 21898 | null | TLR-4 | null | 28,159,232 | Moreover, compared with UYDP, FYDP effectively normalized cell proliferation and downregulated mRNA expression levels of pro-inflammatory cytokines, NF-kB, TLR-4, and iNOs in lipopolysaccharide-induced chronic inflammation cells. | null | null | null |
1 | 1 | Biomarker | C0021390 | Inflammatory Bowel Diseases | group | inflammatory bowel disease | 3586 | IL10 | IL10 | CTD_human | 23,291,587 | Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Beh?et's disease. | 0.246909 | Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with <span class="disease" id="23291587-8-178-204">inflammatory bowel disease</span> (IL23R and <span class="gene" id="23291587-8-216-220">IL10</span>) implicate shared pathogenic pathways in the spondyloarthritides and BehÇet's disease. | CTD_human |
2 | 0 | Biomarker | C0003850 | Arteriosclerosis | disease | atherosclerosis | 348 | APOE | apolipoprotein E | CTD_human | 17,118,406 | To assess the effect of folic acid on the development of atherosclerosis, male apolipoprotein E-deficient mice fed a standard chow diet received either water (control group) or an aqueous solution of folic acid that provided a dose of 75 microg/kg/day, for ten weeks. | 0.292035 | To assess the effect of folic acid on the development of <span class="disease" id="17118406-2-57-72">atherosclerosis</span>, male <span class="gene" id="17118406-2-79-95">apolipoprotein E</span>-deficient mice fed a standard chow diet received either water (control group) or an aqueous solution of folic acid that provided a dose of 75 microg/kg/day, for ten weeks. | CTD_human |
null | null | Negative | MESH:D004342 | null | null | experimental allergic conjunctivitis | 20657 | null | SOD3 | null | 28,063,939 | The role of extracellular superoxide dismutase 3 (SOD3) in immune response and allergic conjunctival inflammation was examined in a murine model for experimental allergic conjunctivitis (EAC). | null | null | null |
null | null | Negative | MESH:D012480 | null | null | Salmonella Enteritidis | 1077779 | null | S1400 | null | 28,110,775 | We demonstrate that combined administration of Lactobacillus salivarius 59 and Enterococcus faecium PXN33 were effective competitive excluders of Salmonella Enteritidis S1400 in poultry. | null | null | null |
1 | 0 | Biomarker | C1328840 | Autoimmune Lymphoproliferative Syndrome | disease | autoimmune lymphoproliferative syndrome | 4893 | NRAS | NRAS | CTD_human | 17,517,660 | NRAS mutation causes a human autoimmune lymphoproliferative syndrome. | 0.200549 | <span class="gene" id="17517660-0-0-4">NRAS</span> mutation causes a human <span class="disease" id="17517660-0-29-68">autoimmune lymphoproliferative syndrome</span>. | CTD_human |
null | null | Negative | MESH:D015179 | null | null | colorectal carcinoma | 693204 | null | microRNA (miR)-619-5p | null | 28,101,234 | UNASSIGNED: The present study aimed to detect the expression of metastasis associated lung adenocarcinoma transcript 1 (MALAT1) and microRNA (miR)-619-5p in colorectal carcinoma (CRC), and to evaluate the significance of MALAT1 and miR-619-5p expression in the clinical diagnosis and prognosis of CRC. | null | null | null |
14 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 1906 | EDN1 | endothelin-1 | CTD_human | 15,188,945 | Studies suggest that endothelin-1 contributes to the pathogenesis of hypertension. | 0.339563 | Studies suggest that <span class="gene" id="15188945-1-21-33">endothelin-1</span> contributes to the pathogenesis of <span class="disease" id="15188945-1-69-81">hypertension</span>. | CTD_human |
3 | 0 | Biomarker | C0025202 | melanoma | disease | cutaneous melanoma | 434 | ASIP | ASIP | CTD_human | 18,488,027 | ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. | 0.222055 | <span class="gene" id="18488027-0-0-4">ASIP</span> and TYR pigmentation variants associate with <span class="disease" id="18488027-0-50-68">cutaneous melanoma</span> and basal cell carcinoma. | CTD_human |
28 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small-cell lung cancer | 238 | ALK | ALK | CTD_human | 22,508,824 | Remarkable tumor response to crizotinib in a 14-year-old girl with ALK-positive non-small-cell lung cancer. | 0.28 | Remarkable tumor response to crizotinib in a 14-year-old girl with <span class="gene" id="22508824-0-67-70">ALK</span>-positive <span class="disease" id="22508824-0-80-106">non-small-cell lung cancer</span>. | CTD_human |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 6774 | STAT3 | STAT3 | CTD_human | 21,549,414 | Prognostic significance of STAT3 expression and its correlation with chemoresistance of non-small cell lung cancer cells. | 0.212637 | Prognostic significance of <span class="gene" id="21549414-0-27-32">STAT3</span> expression and its correlation with chemoresistance of <span class="disease" id="21549414-0-88-114">non-small cell lung cancer</span> cells. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 7436 | VLDLR | VLDLR | CTD_human | 20,975,297 | Similarly, transcripts associated with cholesterol and lipoprotein metabolism showed a differential expression, with APOE and ABCA being decreased and VLDLR being increased in obese versus lean subjects. | 0.200824 | Similarly, transcripts associated with cholesterol and lipoprotein metabolism showed a differential expression, with APOE and ABCA being decreased and <span class="gene" id="20975297-4-151-156">VLDLR</span> being increased in <span class="disease" id="20975297-4-176-181">obese</span> versus lean subjects. | CTD_human |
1 | 0 | Biomarker | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | disease | T-cell acute lymphoblastic leukemia | 6134 | RPL10 | RPL10 | CTD_human | 23,263,491 | Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. | 0.200549 | Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and <span class="gene" id="23263491-0-75-80">RPL10</span> in <span class="disease" id="23263491-0-84-119">T-cell acute lymphoblastic leukemia</span>. | CTD_human |
14 | 20 | Biomarker | C0033300 | Progeria | disease | Hutchinson-Gilford syndrome | 4000 | LMNA | lamin | CTD_human | 15,726,408 | The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. | 0.75263 | The diagnosis of <span class="disease" id="15726408-7-17-44">Hutchinson-Gilford syndrome</span> was confirmed by analysis of the <span class="gene" id="15726408-7-78-83">lamin</span> A gene, revealing a heterozygous c.1824C > T (G608G) mutation. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 6424 | SFRP4 | Secreted frizzled-related protein 4 | CTD_human | 23,140,642 | Secreted frizzled-related protein 4 reduces insulin secretion and is overexpressed in type 2 diabetes. | 0.200549 | <span class="gene" id="23140642-0-0-35">Secreted frizzled-related protein 4</span> reduces insulin secretion and is overexpressed in <span class="disease" id="23140642-0-86-101">type 2 diabetes</span>. | CTD_human |
null | null | Negative | MESH:D013274 | null | null | gastric cancer | 387182 | null | miR-187 | null | 28,098,868 | The expression and biological function for miR-187 in gastric cancer remains unknow. | null | null | null |
1 | 0 | Biomarker | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | disease | anaplastic large cell lymphoma | 3320 | HSP90AA1 | HSP90 | CTD_human | 17,157,164 | The HSP90 inhibitor 17-AAG synergizes with doxorubicin and U0126 in anaplastic large cell lymphoma irrespective of ALK expression. | 0.200275 | The <span class="gene" id="17157164-0-4-9">HSP90</span> inhibitor 17-AAG synergizes with doxorubicin and U0126 in <span class="disease" id="17157164-0-68-98">anaplastic large cell lymphoma</span> irrespective of ALK expression. | CTD_human |
2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 2 | A2M | alpha-2-macroglobulin | CTD_human | 19,180,532 | Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared. | 0.2 | Notably, expression of <span class="gene" id="19180532-8-23-44">alpha-2-macroglobulin</span>, transthyretin, alpha-1-antitrypsin, and properdin was in common in different <span class="disease" id="19180532-8-123-133">lung tumor</span> models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared. | CTD_human |
null | null | Negative | MESH:D006528 | null | null | HCC | 387218 | null | miR-26a | null | 28,079,894 | We found that chemotherapeutic drug doxorubicin (Dox) induced autophagy but decreased the level of miR-26a/b in HCC cells. | null | null | null |
null | null | Negative | MESH:C535879 | null | null | caudal type homeobox 2 | 768612 | null | transcription factor 4 | null | 28,106,824 | An analysis of cis-acting elements in avian MUC2 gene promoters revealed conservation of binding sites, within a 2.9 kb proximal promoter region, for transcription factors such as caudal type homeobox 2 (CDX2), GATA binding protein 4 (GATA4), hepatocyte nuclear factor 4 a (HNF4A), and transcription factor 4 (TCF4) that are important for maintaining intestinal homeostasis and functional integrity. | null | null | null |
null | null | Negative | MESH:C562465 | null | null | TBCD | 511349 | null | ARL2 | null | 28,126,905 | We previously purified TBCD from bovine tissues and showed that it tightly binds the small GTPase ARL2 but appears to be inactive. | null | null | null |
null | null | Negative | MESH:D015658 | null | null | virus | 57314 | null | Th1 | null | 28,077,601 | Whereas vaccination of mice with an influenza subunit vaccine induced moderate virus-specific IgG1, vaccination together with RNAdjuvant significantly enhanced this IgG1 and additionally promoted the formation of IgG2b/c, which is indicative of Th1 responses. | null | null | null |
2 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | APL | 4869 | NPM1 | NPM | CTD_human | 14,508,522 | Induction of apoptosis was seen also in the PML-RARalpha-expressing APL cell line NB4, and in several other atRA-sensitive leukemia cell lines, demonstrating that this effect is limited neither to the monocyte lineage nor to the rare NPM-RARalpha fusion variant. | 0.405769 | Induction of apoptosis was seen also in the PML-RARalpha-expressing <span class="disease" id="14508522-7-68-71">APL</span> cell line NB4, and in several other atRA-sensitive leukemia cell lines, demonstrating that this effect is limited neither to the monocyte lineage nor to the rare <span class="gene" id="14508522-7-234-237">NPM</span>-RARalpha fusion variant. | CTD_human;ORPHANET |
1 | 1 | Biomarker | C2931788 | Atypical Hemolytic Uremic Syndrome | disease | atypical hemolytic uremic syndrome | 629 | CFB | complement factor B | CTD_human | 17,182,750 | Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. | 0.201374 | Gain-of-function mutations in <span class="gene" id="17182750-0-30-49">complement factor B</span> are associated with <span class="disease" id="17182750-0-70-104">atypical hemolytic uremic syndrome</span>. | CTD_human |
null | null | Negative | MESH:D016609 | null | null | HD | 627 | null | BDNF | null | 28,031,779 | The comparison of BDNF values, using a Kruskal Wallis test, between patients with DM2, in HD and healthy controls showed statistical differences (P < 0.001). | null | null | null |
1 | 0 | Biomarker | C0003165 | Anthracosis | disease | coal workers' pneumoconiosis | 7124 | TNF | TNF? | CTD_human | 20,005,085 | Possible effect of gene polymorphisms on the release of TNF? and IL1 cytokines in coal workers' pneumoconiosis. | 0.207012 | Possible effect of gene polymorphisms on the release of <span class="gene" id="20005085-0-56-60">TNFα</span> and IL1 cytokines in <span class="disease" id="20005085-0-82-110">coal workers' pneumoconiosis</span>. | CTD_human |
null | null | Negative | MESH:D055370 | null | null | lung injury | 24482 | null | IGF-1 | null | 28,077,319 | CONCLUSIONS: IGFBP-5, IGF-1 and TGF-b1 in the type II AECs play a key role in lung injury caused by bleomycin and pioglitazone attenuates the lung injury/fibrosis by restoring IGFBP-5 and IGF-1 and decreasing TGF-b1 expressions in the type II AECs. | null | null | null |
null | null | Negative | MESH:D055752 | null | null | small cell lung cancer | 7864 | null | SCLC | null | 28,089,889 | Loss of the tumor suppressors RB1 and TP53 and MYC amplification are frequent oncogenic events in small cell lung cancer (SCLC). | null | null | null |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | renal cell carcinoma | 5058 | PAK1 | p21-activated kinase 1 | CTD_human | 17,621,631 | Modulation of p21-activated kinase 1 alters the behavior of renal cell carcinoma. | 0.200549 | Modulation of <span class="gene" id="17621631-0-14-36">p21-activated kinase 1</span> alters the behavior of <span class="disease" id="17621631-0-60-80">renal cell carcinoma</span>. | CTD_human |
null | null | Negative | MESH:D006528 | null | null | overexpressed in hepatocellular carcinoma | 17829 | null | Mucin 1 | null | 28,012,230 | Mucin 1 (MUC1), as an oncogene, is overexpressed in hepatocellular carcinoma (HCC) cells and promotes the progression and tumorigenesis of HCC through JNK/TGF-b signaling pathway. | null | null | null |
null | null | Negative | MESH:D012559 | null | null | schizophrenia | 12801 | null | CB1 | null | 28,138,895 | The involvement of CB1 receptor ligands in the schizophrenia has already been revealed and confirmed. | null | null | null |
null | null | Negative | MESH:C536494 | null | null | uveal melanoma | 3577;3579 | null | CXCR1/2 | null | 28,129,639 | Our data showed that LDX-mediated inhibition of CXCR1/2 abrogated motility and induced apoptosis in cultured cutaneous and uveal melanoma cells and xenografts independently of the molecular defects associated with the malignant phenotype. | null | null | null |
25 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 348 | APOE | apoE | CTD_human | 9,649,566 | Thus, comparisons between the 2/2 and 3/3 mice unequivocally demonstrate that a single amino acid difference (Arg158 Cys) in the apoE protein is sufficient to cause type III HLP and spontaneous atherosclerosis in mice. | 0.587329 | Thus, comparisons between the 2/2 and 3/3 mice unequivocally demonstrate that a single amino acid difference (Arg158 Cys) in the <span class="gene" id="9649566-6-129-133">apoE</span> protein is sufficient to cause type III HLP and spontaneous <span class="disease" id="9649566-6-194-209">atherosclerosis</span> in mice. | CTD_human;HPO |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | adrenocorticotropic hormone | CTD_human | 17,954,371 | Aspirin prevents and partially reverses adrenocorticotropic hormone-induced hypertension in the rat. | 0.203846 | Aspirin prevents and partially reverses <span class="gene" id="17954371-0-40-67">adrenocorticotropic hormone</span>-induced <span class="disease" id="17954371-0-76-88">hypertension</span> in the rat. | CTD_human |
null | null | Negative | MESH:C538037 | null | null | T-box 15 | 14735 | null | glypican 4 | null | 28,105,114 | mRNA expression levels of two developmental genes, T-box 15 (Tbx15) and glypican 4 (Gpc4) were detected in fat tissues. | null | null | null |
null | null | Negative | MESH:D057851 | null | null | PCO | 6717 | null | Sri | null | 28,208,899 | MATERIALS AND METHODS: All patients with PCO presenting to Ophthalmology Out Patient Department at Sri Siddhartha Medical College between November 2014 to November 2015 were included. | null | null | null |
7 | 23 | Biomarker | C1848533 | Ataxia with vitamin E deficiency | disease | Ataxia with isolated vitamin E deficiency | 7274 | TTPA | TTPA | CTD_human | 15,300,460 | Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. | 0.686044 | <span class="disease" id="15300460-0-0-41">Ataxia with isolated vitamin E deficiency</span>: neurological phenotype, clinical follow-up and novel mutations in <span class="gene" id="15300460-0-109-113">TTPA</span> gene in Italian families. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0242422 | Parkinsonian Disorders | group | Parkinsonism | 142 | PARP1 | PARP-1 | CTD_human | 17,640,816 | PARP-1 mediates acute neuronal cell death induced by a variety of insults including cerebral ischemia, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced Parkinsonism, and CNS trauma. | 0.2 | <span class="gene" id="17640816-3-0-6">PARP-1</span> mediates acute neuronal cell death induced by a variety of insults including cerebral ischemia, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced <span class="disease" id="17640816-3-156-168">Parkinsonism</span>, and CNS trauma. | CTD_human |
1 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 6863 | TAC1 | PPT | CTD_human | 15,845,098 | An inverse relationship between PPT-A mRNA expression levels and lifetime antipsychotic treatment (Fluphenazine) in the schizophrenic and bipolar disorder groups was found. | 0.2 | An inverse relationship between <span class="gene" id="15845098-6-32-35">PPT</span>-A mRNA expression levels and lifetime antipsychotic treatment (Fluphenazine) in the schizophrenic and <span class="disease" id="15845098-6-138-154">bipolar disorder</span> groups was found. | CTD_human |
1 | 0 | Biomarker | C3714756 | Intellectual Disability | group | mental retardation | 9901 | SRGAP3 | MEGAP | 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. | 0.204931 | 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 <span class="disease" id="21082655-6-181-199">mental retardation</span> (CAV3, OXTR, and <span class="gene" id="21082655-6-217-223">SRGAP3</span>/<span class="gene" id="21082655-6-224-229">MEGAP</span>, respectively) are discussed in context of the clinical features. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | inha/Tag adrenal tumors | 24052 | null | Sgcd | null | 28,131,743 | Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inha/Tag adrenal tumors. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 353326 | null | MART1 | null | 28,178,658 | MART1, a human melanoma-specific tumor antigen, was used to induce an increased immune reaction, since a MART1-protective response is required to overcome immune tolerance to the melanoma antigen MelanA. | null | null | null |
1 | 2 | Biomarker | C0019569 | Hirschsprung Disease | disease | Hirschsprung disease | 3084 | NRG1 | NRG1 | CTD_human | 22,974,608 | Aberrant high expression of NRG1 gene in Hirschsprung disease. | 0.202747 | Aberrant high expression of <span class="gene" id="22974608-0-28-32">NRG1</span> gene in <span class="disease" id="22974608-0-41-61">Hirschsprung disease</span>. | CTD_human |
null | null | Negative | MESH:D000796 | null | null | Kimura disease | 5594 | null | extracellular signal regulated kinase 1/2 | null | 28,108,473 | OBJECTIVE: To investigate the expressions of interleukin (IL)-21 and phosphorylated extracellular signal regulated kinase 1/2 (pERK1/2) in Kimura disease (KD) and to correlate the findings with clinical and prognostic variables. | null | null | null |
1 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | pulmonary fibrosis | 1440 | CSF3 | G-CSF | CTD_human | 17,894,541 | Increased granulocyte-colony stimulating factor (G-CSF) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced pulmonary fibrosis. | 0.2 | Increased <span class="gene" id="17894541-0-10-47">granulocyte-colony stimulating factor</span> (<span class="gene" id="17894541-0-49-54">G-CSF</span>) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced <span class="disease" id="17894541-0-184-202">pulmonary fibrosis</span>. | CTD_human |
1 | 0 | Biomarker | C0853897 | Diabetic Cardiomyopathies | disease | diabetic cardiomyopathy | 7124 | TNF | Tumor necrosis factor-alpha | CTD_human | 17,909,696 | Tumor necrosis factor-alpha antagonism protects from myocardial inflammation and fibrosis in experimental diabetic cardiomyopathy. | 0.2 | <span class="gene" id="17909696-0-0-27">Tumor necrosis factor-alpha</span> antagonism protects from myocardial inflammation and fibrosis in experimental <span class="disease" id="17909696-0-106-129">diabetic cardiomyopathy</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 117189 | null | GD3 | null | 28,016,257 | BEC2 is a murine IgG2b antibody that elicits antiidiotypic response to GD3, a glycosphingolipid overexpressed on membranes of SCLC and other tumors derived from the neural crest. | null | null | null |
1 | 0 | Biomarker | C0024305 | Lymphoma, Non-Hodgkin | disease | NHL | 3123 | HLA-DRB1 | HLA-DRB1 | CTD_human | 22,096,508 | Finally, control participants with either HLA-DRB1*01:01 or AH 8.1 reported having a family history of NHL twice as likely as those who did not have either allele or haplotype, providing the first empirical evidence that HLA associations may explain some of the well-established relationship between family history and NHL risk. | 0.219922 | Finally, control participants with either <span class="gene" id="22096508-9-42-50">HLA-DRB1</span>*01:01 or AH 8.1 reported having a family history of <span class="disease" id="22096508-9-103-106">NHL</span> twice as likely as those who did not have either allele or haplotype, providing the first empirical evidence that HLA associations may explain some of the well-established relationship between family history and <span class="disease" id="22096508-9-319-322">NHL</span> risk. | CTD_human |
3 | 9 | Biomarker | C2750442 | Hypermanganesemia with Dystonia Polycythemia and Cirrhosis | disease | parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease | 55532 | SLC30A10 | SLC30A10 | CTD_human | 22,341,971 | Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. | 0.600549 | Mutations in <span class="gene" id="22341971-0-13-21">SLC30A10</span> cause <span class="disease" id="22341971-0-28-117">parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D002545 | null | null | brain ischemia | 65960 | null | TSG | null | 28,049,198 | 2,3,4',5-tetrahydroxystilbene 2-O-b-D-glucoside (TSG), a monomer of stilbene from polygonummultiflorum, exerts neuroprotection in a range of experimental models such as Alzheimer's disease and brain ischemia. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | alleviated disease symptoms | 117198 | null | NS1 | null | 28,052,239 | ICR-suckling mice consumed honeysuckle aqueous extract either before or after intracranial injection with DENV2 showed decreased levels of NS1 RNA and protein expression accompanied with alleviated disease symptoms, decreased virus load, and prolonged survival time. | null | null | null |
null | null | Negative | MESH:D000744 | null | null | cold agglutinin disease | 28395 | null | IGHV4-34 | null | 28,097,289 | Furthermore, subset 4 IGs do not bind DNA nor i or I carbohydrate antigens, common targets of IGHV4-34-utilizing antibodies in systemic lupus erythematosus and cold agglutinin disease, respectively. | null | null | null |
null | null | Negative | MESH:D009410 | null | null | loss of cerebellar neurons | 22594 | null | Xrcc1 | null | 28,002,403 | Indeed, remarkably, genetic deletion of Parp1 rescued normal cerebellar ADP-ribose levels and reduced the loss of cerebellar neurons and ataxia in Xrcc1-defective mice, identifying a molecular mechanism by which endogenous single-strand breaks trigger neuropathology. | null | null | null |
null | null | Negative | MESH:D017563 | null | null | interstitial lung disease | 260431 | null | COPD | null | 28,008,651 | Chronic obstructive pulmonary disease (COPD) and interstitial lung disease (ILD) were predictors of pre-transplant PMI (b=-2.3, p=0.001 for COPD; b=2.1, p<0.001 for ILD) and percent change in PMI at 12 months post-transplantation relative to baseline (b=19.2, p=0.04 for COPD; b=-20.1, p=0.01 for ILD). | null | null | null |
7 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | noninsulin-dependent diabetes mellitus | 3667 | IRS1 | insulin receptor substrate-1 | CTD_human | 8,723,689 | Deletion of Gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus. | 0.669945 | Deletion of Gly723 in the <span class="gene" id="8723689-0-26-54">insulin receptor substrate-1</span> of a patient with <span class="disease" id="8723689-0-73-111">noninsulin-dependent diabetes mellitus</span>. | CTD_human;UNIPROT |
null | null | Negative | MESH:C562591 | null | null | XPD | 2071 | null | ERCC3 | null | 28,115,302 | Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5). | null | null | null |