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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D009362 | null | null | metastasis | 693232 | null | miR-647 | null | 28,098,914 | In the present study, we found that miR-647 was markedly downregulated in gastric cancer (GC), and was significantly correlated with reduced tumor size and metastasis. | null | null | null |
null | null | Negative | MESH:D014777 | null | null | viral infections | 16153 | null | IL-10 | null | 28,178,533 | In mice, the inability of the immune system to clear viral infections or inhibit tumor growth can be reversed by antibody-mediated blockade of IL-10 action. | null | null | null |
1 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | myocardial infarction | 1390 | CREM | inducible cAMP early repressor | CTD_human | 19,027,736 | Interventional effect of valsartan on expression of inducible cAMP early repressor and phosphodiesterase 3A in rats after myocardial infarction. | 0.2 | Interventional effect of valsartan on expression of <span class="gene" id="19027736-0-52-82">inducible cAMP early repressor</span> and phosphodiesterase 3A in rats after <span class="disease" id="19027736-0-122-143">myocardial infarction</span>. | CTD_human |
1 | 0 | Biomarker | C0025500 | Mesothelioma | disease | mesothelioma | 94274 | PPP1R14A | CPI-17 | CTD_human | 18,835,652 | Our hypothesis was that in human mesothelioma without detectable NF2 mutations, regulators of NF2/merlin activity such as CPI-17 would be altered. | 0.2 | Our hypothesis was that in human <span class="disease" id="18835652-4-33-45">mesothelioma</span> without detectable NF2 mutations, regulators of NF2/merlin activity such as <span class="gene" id="18835652-4-122-128">CPI-17</span> would be altered. | CTD_human |
9 | 2 | Biomarker | C0016667 | Fragile X Syndrome | disease | FXS | 2332 | FMR1 | Fmr1 | CTD_human | 18,835,858 | Subjects with FXS and fragile X mental retardation gene knock out (Fmr1 KO) mice, an animal model for FXS, have been shown to exhibit defects in dendritic spine maturation that may underlie cognitive and behavioural abnormalities in FXS. | 0.948716 | Subjects with <span class="disease" id="18835858-2-14-17">FXS</span> and fragile X mental retardation gene knock out (<span class="gene" id="18835858-2-67-71">Fmr1</span> KO) mice, an animal model for <span class="disease" id="18835858-2-102-105">FXS</span>, have been shown to exhibit defects in dendritic spine maturation that may underlie cognitive and behavioural abnormalities in <span class="disease" id="18835858-2-233-236">FXS</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D010291 | null | null | hemiparesis | 27050 | null | mRS 3 | null | 28,210,239 | One patient suffered from an ischemic stroke with resultant permanent hemiparesis (mRS 3). | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 7571 | ZNF23 | ZNF23 | CTD_human | 21,965,783 | Cisplatin-induced apoptotic effect in HepG2 cells may be mediated via the up-regulation of ZNF23, which suggests that the ZNF23 gene could play an important role in the development of hepatocellular carcinoma. | 0.200275 | Cisplatin-induced apoptotic effect in HepG2 cells may be mediated via the up-regulation of <span class="gene" id="21965783-8-91-96">ZNF23</span>, which suggests that the <span class="gene" id="21965783-8-122-127">ZNF23</span> gene could play an important role in the development of <span class="disease" id="21965783-8-184-208">hepatocellular carcinoma</span>. | CTD_human |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 6,135,010 | Vasodilator prostanoids and ACTH-dependent hypertension. | 0.203846 | Vasodilator prostanoids and <span class="gene" id="6135010-0-28-32">ACTH</span>-dependent <span class="disease" id="6135010-0-43-55">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumour | 22060 | null | p53 | null | 28,032,868 | The tumour suppressor p53 plays an important role in somatic cell reprogramming. | null | null | null |
1 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | ADHD | 5789 | PTPRD | PTPRD | CTD_human | 19,546,859 | Four independent deletions were located within the protein tyrosine phosphatase gene, PTPRD, recently implicated as a candidate gene for restless legs syndrome, which frequently presents with ADHD. | 0.200275 | Four independent deletions were located within the protein tyrosine phosphatase gene, <span class="gene" id="19546859-5-86-91">PTPRD</span>, recently implicated as a candidate gene for restless legs syndrome, which frequently presents with <span class="disease" id="19546859-5-192-196">ADHD</span>. | CTD_human |
null | null | Negative | MESH:D006333 | null | null | heart failure | 228026;18604;236900;27273 | null | PDK1-4 | null | 28,085,286 | Pyruvate dehydrogenase kinases 1-4 (PDK1-4) negatively control activity of the pyruvate dehydrogenase complex (PDC) and are up-regulated in obesity, diabetes, heart failure, and cancer. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 216799 | null | NLRP3 | null | 28,099,758 | Collectively, our results suggest that melatonin confers protection against Cd-induced liver inflammation and hepatocyte death via inhibition of the TXNIP-NLRP3 inflammasome pathway. | null | null | null |
null | null | Negative | MESH:D007690 | null | null | polycystic kidneys | 96459 | null | FNIP1 | null | 28,039,480 | Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer. | null | null | null |
null | null | Negative | MESH:D017695 | null | null | TMA | 541466 | null | CT45 | null | 28,021,061 | The TMA was stained with a panel of antibodies against the following CTAg: MAGE-A1, MAGE-A3/4, NY-ESO-1, GAGE, SAGE1, NXF2/CT39, ACTL8/CT57, MAGEC1/CT7, MAGEC2/CT10 and CT45. | null | null | null |
null | null | Negative | MESH:D064146 | null | null | myelosuppressive CT | 1440 | null | granulocyte-colony stimulating factor | null | 28,142,835 | Biosimilar filgrastim (Nivestim, Hospira Inc.) is a granulocyte-colony stimulating factor (G-CSF) licensed for the treatment of neutropenia and FN induced by myelosuppressive CT. | null | null | null |
null | null | Negative | MESH:C536915 | null | null | papillary thyroid cancer | 4826 | null | NNAT | null | 28,181,547 | We found a significant association between the localization of RET mutations and the expression of three genes: NNAT (suggested to be a tumour suppressor gene), CDC14B (involved in cell cycle control) and NTRK3 (tyrosine receptor kinase that undergoes rearrangement in papillary thyroid cancer). | null | null | null |
1 | 0 | Biomarker | C0079773 | Lymphoma, T-Cell, Cutaneous | disease | cutaneous T-Cell lymphoma | 407004 | MIR22 | miR-22 | CTD_human | 26,244,872 | Jak3, STAT3, and STAT5 inhibit expression of miR-22, a novel tumor suppressor microRNA, in cutaneous T-Cell lymphoma. | 0.200275 | Jak3, STAT3, and STAT5 inhibit expression of <span class="gene" id="26244872-0-45-51">miR-22</span>, a novel tumor suppressor microRNA, in <span class="disease" id="26244872-0-91-116">cutaneous T-Cell lymphoma</span>. | CTD_human |
3 | 0 | Biomarker | C0038587 | Substance Withdrawal Syndrome | disease | withdrawal syndrome | 2353 | FOS | c-Fos | CTD_human | 15,196,794 | The present study revealed a significant increase in c-Fos protein expression in the cortex and thalamus of mice showing naloxone-precipitated withdrawal syndrome. | 0.2 | The present study revealed a significant increase in <span class="gene" id="15196794-4-53-58">c-Fos</span> protein expression in the cortex and thalamus of mice showing naloxone-precipitated <span class="disease" id="15196794-4-143-162">withdrawal syndrome</span>. | CTD_human |
1 | 0 | Biomarker | C3714756 | Intellectual Disability | group | mental retardation | 57282 | SLC4A10 | SLC4A10 | CTD_human | 18,413,482 | Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. | 0.200275 | Disruption of sodium bicarbonate transporter <span class="gene" id="18413482-0-45-52">SLC4A10</span> in a patient with complex partial epilepsy and <span class="disease" id="18413482-0-100-118">mental retardation</span>. | CTD_human |
null | null | Negative | MESH:D001930 | null | null | TBI | 25166 | null | caspase-1 | null | 28,077,335 | Rats treated with -3 FAs had significantly less TBI-induced caspase-1 cleavage and IL-1b secretion than those with vehicle. | null | null | null |
1 | 0 | Biomarker | C0271650 | Impaired glucose tolerance | phenotype | glucose intolerance | 407040 | MIR34A | miR-34a | CTD_human | 23,834,033 | Conversely, antagonism of miR-34a in diet-induced obese mice restored NAMPT/NAD(+) levels and alleviated steatosis, inflammation, and glucose intolerance. | 0.2 | Conversely, antagonism of <span class="gene" id="23834033-10-26-33">miR-34a</span> in diet-induced obese mice restored NAMPT/NAD(+) levels and alleviated steatosis, inflammation, and <span class="disease" id="23834033-10-134-153">glucose intolerance</span>. | CTD_human |
1 | 0 | Biomarker | C0242383 | Age related macular degeneration | disease | age-related macular degeneration | 7422 | VEGFA | VEGF | CTD_human | 15,788,408 | Oxidative stress is suggested to occur in retinal tissue during age-related macular degeneration and diabetic retinopathy and is suspected in the mechanism of VEGF expression in these diseases. | 0.270795 | Oxidative stress is suggested to occur in retinal tissue during <span class="disease" id="15788408-2-64-96">age-related macular degeneration</span> and diabetic retinopathy and is suspected in the mechanism of <span class="gene" id="15788408-2-159-163">VEGF</span> expression in these diseases. | CTD_human |
1 | 0 | Biomarker | C0017661 | IGA Glomerulonephritis | disease | IgA nephropathy | 183 | AGT | AGT | 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. | 0.24072 | Our results suggest that polymorphisms at the <span class="gene" id="9259580-12-46-49">AGT</span> and ACE 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:D007244 | null | null | IM | 21577 | null | TCRb | null | 28,091,735 | In this study, we fully characterized the diversity of peripheral blood TCRb repertoire in IM (n = 6) and CAEBV patients (n = 5) and EBV-seropositive controls (n = 5). | null | null | null |
null | null | Negative | MESH:D005355 | null | null | lung fibrosis | 116490 | null | SNAI1 | null | 28,115,235 | This excessive deposition was accompanied by an upregulation of transcripts related to the extracellular matrix (TGFb1, SNAI1 and SNAI2), indicating lung fibrosis. | null | null | null |
8 | 9 | Biomarker | C0265306 | Greig cephalopolysyndactyly syndrome | disease | Greig cephalopolysyndactyly syndrome | 2737 | GLI3 | GLI3 | CTD_human | 10,441,342 | Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. | 0.687418 | Point mutations throughout the <span class="gene" id="10441342-0-31-35">GLI3</span> gene cause <span class="disease" id="10441342-0-47-83">Greig cephalopolysyndactyly syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 1,432,030 | Effect of intracarotid infusion of etoposide with angiotensin II-induced hypertension on the blood-brain barrier and the brain tissue. | 0.52 | Effect of intracarotid infusion of etoposide with <span class="gene" id="1432030-0-50-64">angiotensin II</span>-induced <span class="disease" id="1432030-0-73-85">hypertension</span> on the blood-brain barrier and the brain tissue. | CTD_human |
3 | 0 | Biomarker | C0036202 | Sarcoidosis | disease | sarcoidosis | 3115 | HLA-DPB1 | HLA-DPB | CTD_human | 8,909,942 | HLA-DPB polymorphisms: Glu 69 association with sarcoidosis. | 0.207012 | <span class="gene" id="8909942-0-0-7">HLA-DPB</span> polymorphisms: Glu 69 association with <span class="disease" id="8909942-0-47-58">sarcoidosis</span>. | CTD_human |
null | null | Negative | MESH:D006333 | null | null | heart failure | 18024 | null | NFE2L2 | null | 28,132,522 | Preserving the NFE2L2 activity arrested the mitochondrial and cardiac oxidative stress, cardiac fibrosis, and heart failure in Chagas disease. | null | null | null |
null | null | Negative | MESH:D001927 | null | null | brain disorders | 25542 | null | macrophage inflammatory protein (MIP)-1alpha | null | 28,094,821 | UNASSIGNED: Growing evidence suggests that macrophage inflammatory protein (MIP)-1alpha (synonym CCL3) is upregulated in the neuroinflammatory processes initiated by some brain disorders, but its precise role and regulatory mechanism remain unclear. | null | null | null |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 5320 | PLA2G2A | PLA2G2A | CTD_human | 25,446,850 | Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells. | 0.2 | Higher expression of <span class="gene" id="25446850-11-21-28">PLA2G2A</span>, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B <span class="disease" id="25446850-11-79-92">endometriosis</span> cells compared to HIESC control cells. | CTD_human |
1 | 1 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 90139 | TSPAN18 | TSPAN18 | CTD_human | 22,037,552 | We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of TSPAN18, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). | 0.200824 | We identified two susceptibility loci for <span class="disease" id="22037552-2-42-55">schizophrenia</span> at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of <span class="gene" id="22037552-2-346-353">TSPAN18</span>, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). | CTD_human |
4 | 0 | Biomarker | C0026850 | Muscular Dystrophy | disease | muscular dystrophies | 1756 | DMD | dystrophin | CTD_human | 10,797,403 | Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice. | 0.494945 | Mutations in the <span class="gene" id="10797403-1-17-27">dystrophin</span> gene that lead to the expression of truncated forms of the <span class="gene" id="10797403-1-87-97">dystrophin</span> protein cause <span class="disease" id="10797403-1-112-132">muscular dystrophies</span> of varying severities both in humans and in mice. | CTD_human;HPO |
1 | 0 | Biomarker | C0027796 | Neuralgia | phenotype | neuropathic pain | 177 | AGER | Receptor for Advanced Glycation End-products | CTD_human | 25,014,009 | Identification of a functional interaction of HMGB1 with Receptor for Advanced Glycation End-products in a model of neuropathic pain. | 0.2 | Identification of a functional interaction of HMGB1 with <span class="gene" id="25014009-0-57-101">Receptor for Advanced Glycation End-products</span> in a model of <span class="disease" id="25014009-0-116-132">neuropathic pain</span>. | CTD_human |
2 | 0 | Biomarker | C0001973 | Alcoholic Intoxication, Chronic | disease | alcohol dependence | 4887 | NPY2R | NPY2R | CTD_human | 18,828,811 | SNPs in NPY2R provided significant evidence of association with alcohol dependence, alcohol withdrawal symptoms, comorbid alcohol and cocaine dependence, and cocaine dependence (all p < 0.03). | 0.402956 | SNPs in <span class="gene" id="18828811-7-8-13">NPY2R</span> provided significant evidence of association with <span class="disease" id="18828811-7-64-82">alcohol dependence</span>, alcohol withdrawal symptoms, comorbid alcohol and cocaine dependence, and cocaine dependence (all p < 0.03). | CTD_human;PSYGENET |
null | null | Negative | MESH:D009336 | null | null | necrosis | 3569;3586 | null | interleukin-6, and -10 | null | 28,079,606 | MEASUREMENTS AND MAIN RESULTS: We measured a panel of biomarkers representing four pathophysiologic domains: "inflammation" (tumor necrosis factor, interleukin-6, and -10); "coagulation" (D-dimers, thrombin-antithrombin complex); "oxidative stress" (urine isoprostane); and "tissue hypoxia" (lactate) at 0, 6, 24, and 72 hours after treatment. | null | null | null |
2 | 2 | Biomarker | C1854467 | Spastic paraplegia 13, autosomal dominant | disease | SPG13 | 3329 | HSPD1 | Hsp60 | CTD_human | 18,571,143 | Our findings suggest that Hsp60 defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the SPG13 phenotype. | 0.680549 | Our findings suggest that <span class="gene" id="18571143-10-26-31">Hsp60</span> defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the <span class="disease" id="18571143-10-146-151">SPG13</span> phenotype. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | myocardial infarction | 4846 | NOS3 | eNOS | CTD_human | 16,337,503 | Genetic polymorphisms G894T on the eNOS gene is associated with endothelial function and vWF levels in premature myocardial infarction survivors. | 0.368228 | Genetic polymorphisms G894T on the <span class="gene" id="16337503-0-35-39">eNOS</span> gene is associated with endothelial function and vWF levels in premature <span class="disease" id="16337503-0-113-134">myocardial infarction</span> survivors. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 5214 | null | PFKP | null | 28,176,759 | Thus, the Snail-PFKP axis plays an important role in cancer cell survival via regulation of glucose flux between glycolysis and PPP. | null | null | null |
null | null | Negative | MESH:D008545 | null | null | Melanoma 2 | 107181291 | null | PYRIN-only protein 3 | null | 28,062,222 | Type I interferons (IFN-a/b)-inducible PYRIN and HIN domain-containing protein family includes Absent in Melanoma 2 (murine Aim2 and human AIM2), murine p202, and human PYRIN-only protein 3 (POP3). | null | null | null |
5 | 5 | Biomarker | C0079588 | Ichthyosis, X-Linked | disease | XLI | 412 | STS | STS | CTD_human | 14,641,695 | It is known that an undetectable maternal serum, unconjugated estriol, associated with placental steroid sulfatase (STS) deficiency, may be the cause of cause of XLI. | 0.622462 | It is known that an undetectable maternal serum, unconjugated estriol, associated with placental <span class="gene" id="14641695-3-97-114">steroid sulfatase</span> (<span class="gene" id="14641695-3-116-119">STS</span>) deficiency, may be the cause of cause of <span class="disease" id="14641695-3-162-165">XLI</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D007249 | null | null | inflammation | 100620530 | null | CD14 | null | 28,013,313 | RESULTS: Only severe NEC cases (score of 5-6) were associated with the upregulation of genes involved in inflammation (CCL2, CCL3, CD14, CD163, CXCL8, HP, IL1B, IL1RN, IL6,IL10, NFKBIA, PTGS2 and TNFAIP3) compared to pigs that appeared healthy (score of 1-2) or showed mild NEC (score of 3-4). | null | null | null |
2 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 6275 | S100A4 | S100A4 | CTD_human | 21,685,359 | Niclosamide inhibits S100A4-induced metastasis formation in a mouse model of colon cancer and has therapeutic potential. | 0.245562 | Niclosamide inhibits <span class="gene" id="21685359-11-21-27">S100A4</span>-induced <span class="disease" id="21685359-11-36-46">metastasis</span> formation in a mouse model of colon cancer and has therapeutic potential. | CTD_human |
2 | 0 | Biomarker | C0025958 | Microcephaly | disease | microcephaly | 84879 | MFSD2A | MFSD2A | CTD_human | 26,005,865 | A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. | 0.200824 | A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter <span class="gene" id="26005865-0-94-100">MFSD2A</span> causes a non-lethal <span class="disease" id="26005865-0-121-133">microcephaly</span> syndrome. | CTD_human |
1 | 0 | Therapeutic | C0009319 | Colitis | disease | colitis | 8174 | MADCAM1 | MAdCAM-1 | CTD_human | 16,917,232 | Antisense therapy of MAdCAM-1 for trinitrobenzenesulfonic acid-induced murine colitis. | 0.200549 | Antisense therapy of <span class="gene" id="16917232-0-21-29">MAdCAM-1</span> for trinitrobenzenesulfonic acid-induced murine <span class="disease" id="16917232-0-78-85">colitis</span>. | CTD_human |
null | null | Negative | MESH:C565336 | null | null | calpain-3 isoform X2 | 612338 | null | CD5 | null | 28,173,805 | In severe affected dogs versus healthy group complement factor H isoform 2, calpain-3 isoform X2, dystrobrevin beta isoform X7, CD5 molecule-like and l-2-hydroxyglutarate dehydrogenase resulted to be down-regulated. | null | null | null |
1 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 5915 | RARB | RAR-beta | CTD_human | 14,656,941 | These studies demonstrate that aberrant methylation of RAR-beta is an early and common alteration in murine lung tumors induced by several environmentally relevant exposures. | 0.211481 | These studies demonstrate that aberrant methylation of <span class="gene" id="14656941-10-55-63">RAR-beta</span> is an early and common alteration in murine <span class="disease" id="14656941-10-108-119">lung tumors</span> induced by several environmentally relevant exposures. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 18596 | null | PDGFR | null | 28,138,037 | To study the resistance of proneural gliomas that are driven by a PDGFR-regulated pathway to targeted tyrosine kinase inhibitors, we utilized a mouse model of proneural glioma in which mice develop tumors that become resistant to PDGFR inhibition. | null | null | null |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 6236 | RRAD | RRAD | CTD_human | 17,195,088 | Loss of RRAD expression was found in 14 of 20 (70%) NSCLC cell lines, 11 of 11 (100%) SCLC cell lines, and 8 of 10 (80%) breast cancer cell lines; expression was not affected in normal bronchial and mammary epithelial cells. | 0.200549 | Loss of <span class="gene" id="17195088-4-8-12">RRAD</span> expression was found in 14 of 20 (70%) <span class="disease" id="17195088-4-52-57">NSCLC</span> cell lines, 11 of 11 (100%) SCLC cell lines, and 8 of 10 (80%) breast cancer cell lines; expression was not affected in normal bronchial and mammary epithelial cells. | CTD_human |
4 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | attention deficit-hyperactivity disorder | 6531 | SLC6A3 | dopamine transporter | CTD_human | 15,059,031 | Polymorphisms of the dopamine transporter gene: influence on response to methylphenidate in attention deficit-hyperactivity disorder. | 0.416551 | Polymorphisms of the <span class="gene" id="15059031-0-21-41">dopamine transporter</span> gene: influence on response to methylphenidate in <span class="disease" id="15059031-0-92-132">attention deficit-hyperactivity disorder</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 619501 | null | HCC | null | 28,021,933 | Archives HCC tumor tissue samples were used after approval by institutional review board and written informed consent. | null | null | null |
null | null | Negative | MESH:D008545 | null | null | melanoma | 9303 | null | U-25 | null | 28,167,241 | A-07, U-25, D-12, or R-18 melanoma xenografts were grown in dorsal window chambers and given daily treatments of sunitinib (40 mg/kg) or vehicle. | null | null | null |
null | null | Negative | MESH:D003072 | null | null | cognitive behaviors | 25802;1735 | null | D1 and D3 | null | 28,199,666 | However, the roles of D1 and D3 receptors in the N-methyl-D-aspartate/glycineB receptor-regulated cognitive behaviors induced by morphine remain unknown. | null | null | null |
3 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 7450 | VWF | von Willebrand factor | CTD_human | 12,425,201 | The objective of the investigation was to assess whether circulating adhesion molecules, von Willebrand factor (vWf) and endothelin-1 are elevated in patients with mild uncomplicated essential hypertension without further risk factors of atherosclerosis and whether they could serve as indicators of endothelial dysfunction in this form of hypertension. | 0.203781 | The objective of the investigation was to assess whether circulating adhesion molecules, <span class="gene" id="12425201-1-89-110">von Willebrand factor</span> (vWf) and endothelin-1 are elevated in patients with mild uncomplicated essential hypertension without further risk factors of atherosclerosis and whether they could serve as indicators of endothelial dysfunction in this form of <span class="disease" id="12425201-1-340-352">hypertension</span>. | CTD_human |
1 | 0 | Therapeutic | C0020545 | Hypertension, Renovascular | disease | renovascular hypertension | 4846 | NOS3 | eNOS | CTD_human | 18,641,695 | The data indicate that eNOS overexpression was able to prevent the development of 2K1C renovascular hypertension in mice, without affecting other characteristic cardiovascular dysfunctions. | 0.200275 | The data indicate that <span class="gene" id="18641695-9-23-27">eNOS</span> overexpression was able to prevent the development of 2K1C <span class="disease" id="18641695-9-87-112">renovascular hypertension</span> in mice, without affecting other characteristic cardiovascular dysfunctions. | CTD_human |
1 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | Hyperalgesia | 3552 | IL1A | IL-1 | CTD_human | 12,727,271 | Hyperalgesia induced by both PLA(2)s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B(2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1). | 0.2 | <span class="disease" id="12727271-7-0-12">Hyperalgesia</span> induced by both PLA(2)s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B(2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (<span class="gene" id="12727271-7-275-279">IL-1</span>). | CTD_human |
1 | 0 | Biomarker | C0020438 | Hypercalciuria | phenotype | hypercalciuria | 6569 | SLC34A1 | Npt2 | CTD_human | 9,560,283 | Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. | 0.481099 | Targeted inactivation of <span class="gene" id="9560283-0-25-29">Npt2</span> in mice leads to severe renal phosphate wasting, <span class="disease" id="9560283-0-79-93">hypercalciuria</span>, and skeletal abnormalities. | CTD_human;HPO |
null | null | Negative | MESH:C537751 | null | null | OIS | 7157 | null | TP53 | null | 28,002,790 | SV40-TAg inhibits TP53/CDKN1A and CDKN2A/RB1, two pathways critical for OIS induction and maintenance. | null | null | null |
2 | 0 | Therapeutic | C0033578 | Prostatic Neoplasms | group | prostate tumor | 4804 | NGFR | p75NTR | CTD_human | 17,409,433 | The aryl propionic acid R-flurbiprofen selectively induces p75NTR-dependent decreased survival of prostate tumor cells. | 0.200824 | The aryl propionic acid R-flurbiprofen selectively induces <span class="gene" id="17409433-0-59-65">p75NTR</span>-dependent decreased survival of <span class="disease" id="17409433-0-98-112">prostate tumor</span> cells. | CTD_human |
59 | 0 | Biomarker | C0038454 | Cerebrovascular accident | group | stroke | 5327 | PLAT | alteplase | CTD_human | 16,184,341 | Medline search identified one further study about the occurrence of alteplase-associated angioedema in stroke patients stratified to the use of ACEi. | 0.221398 | Medline search identified one further study about the occurrence of <span class="gene" id="16184341-15-68-77">alteplase</span>-associated angioedema in <span class="disease" id="16184341-15-103-109">stroke</span> patients stratified to the use of ACEi. | CTD_human |
1 | 0 | Biomarker | C0011884 | Diabetic Retinopathy | disease | diabetic retinopathy | 185 | AGTR1 | angiotensin II type 1 receptor | CTD_human | 16,601,577 | Role of the angiotensin II type 1 receptor in the pathogenesis of diabetic retinopathy: effects of blood pressure control and beyond. | 0.205415 | Role of the <span class="gene" id="16601577-0-12-42">angiotensin II type 1 receptor</span> in the pathogenesis of <span class="disease" id="16601577-0-66-86">diabetic retinopathy</span>: effects of blood pressure control and beyond. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 12540 | null | Cdc42 | null | 28,012,398 | The present work is aimed to study the modulating effect of JPBS on the lungs expressions of Rac1, Cdc42, SDF-1, and FN in a murine gastric cancer model showing spontaneous lung metastasis. | null | null | null |
2 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 594857 | NPS | NPS | CTD_human | 19,339,610 | Our results suggest that NPS receptors may be an important target for drug abuse research and treatment and that CRF(1) mediates the cocaine-seeking and locomotor stimulant effects of NPS, but not its effects on anxiety-like behavior. | 0.204121 | Our results suggest that <span class="gene" id="19339610-7-25-28">NPS</span> receptors may be an important target for drug abuse research and treatment and that CRF(1) mediates the cocaine-seeking and locomotor stimulant effects of <span class="gene" id="19339610-7-184-187">NPS</span>, but not its effects on <span class="disease" id="19339610-7-212-219">anxiety</span>-like behavior. | CTD_human |
2 | 7 | Biomarker | C1854520 | SEBASTIAN SYNDROME | disease | Fechtner Syndrome | 4627 | MYH9 | MYH9 | CTD_human | 10,973,259 | Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. | 0.694011 | Mutations in <span class="gene" id="10973259-0-13-17">MYH9</span> result in the <span class="disease" id="10973259-0-32-51">May-Hegglin anomaly</span>, and Fechtner and Sebastian syndromes. The May-Heggllin/<span class="disease" id="10973259-0-108-125">Fechtner Syndrome</span> Consortium. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C567932 | null | null | OS | 2064 | null | C-erb B-2 | null | 28,023,383 | Patients which over-expressed both EGFR and C-erb B-2 fared worse in terms of OS (p=0.001)and DFS(p=0.002) due to additive effect of the prognostic power. | null | null | null |
null | null | Negative | MESH:D000013 | null | null | stellar cooling anomalies | 470 | null | ALP | null | 28,106,460 | In this event, the Fermi LAT would probe large regions of the ALP parameter space invoked to explain the anomalous transparency of the Universe to y rays, stellar cooling anomalies, and cold dark matter. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | diseases and injuries | 9507 | null | ADAMTS-4 | null | 28,084,617 | In this review, we first focus on the modifications of ADAMTS-4 expression during CNS physiological and pathological conditions, including chronic diseases and injuries. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 835;841 | null | caspase-2 or -8 | null | 28,197,379 | Non-phosphorylatable eIF2a, depletion of PERK, caspase-2 or -8 compromised calreticulin exposure by cancer cells succumbing to HHP but could not inhibit death. | null | null | null |
2 | 0 | Biomarker | C1608393 | Megacystis microcolon intestinal hypoperistalsis syndrome | disease | MMIHS | 72 | ACTG2 | ACTG2 | CTD_human | 24,337,657 | In conclusion, our study suggests a pathogenic mechanism for MMIHS by identifying causative ACTG2 mutations. | 0.401374 | In conclusion, our study suggests a pathogenic mechanism for <span class="disease" id="24337657-7-61-66">MMIHS</span> by identifying causative <span class="gene" id="24337657-7-92-97">ACTG2</span> mutations. | CTD_human;ORPHANET |
null | null | Negative | MESH:D011475 | null | null | OS | 4255 | null | MGMT | null | 28,136,055 | CONCLUSIONS: CIL failed to prolong PFS or OS in patients with newly diagnosed glioblastoma and methylated MGMT gene promoter. | null | null | null |
null | null | Negative | MESH:C536528 | null | null | LPS | 18126 | null | iNOS | null | 28,152,476 | They also increased COX-2, 5-LOX, and iNOS concentration in macrophages, which was comparable to that of LPS stimulated macrophages. | null | null | null |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | SCC | 2810 | SFN | stratifin | CTD_human | 15,274,141 | At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins. | 0.206565 | At least, <span class="disease" id="15274141-8-10-13">SCC</span> antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, <span class="gene" id="15274141-8-151-160">stratifin</span> and galectin 7 are candidates for targeted proteins. | CTD_human |
1 | 0 | Biomarker | C0030297 | Pancreatic Neoplasm | disease | pancreatic tumor | 1269 | CNR2 | CB(2 | CTD_human | 16,818,650 | In conclusion, results presented here show that cannabinoids lead to apoptosis of pancreatic tumor cells via a CB(2) receptor and de novo synthesized ceramide-dependent up-regulation of p8 and the endoplasmic reticulum stress-related genes ATF-4 and TRB3. | 0.2 | In conclusion, results presented here show that cannabinoids lead to apoptosis of <span class="disease" id="16818650-10-82-98">pancreatic tumor</span> cells via a <span class="gene" id="16818650-10-111-115">CB(2</span>) receptor and de novo synthesized ceramide-dependent up-regulation of p8 and the endoplasmic reticulum stress-related genes ATF-4 and TRB3. | CTD_human |
1 | 1 | Biomarker | C3714756 | Intellectual Disability | group | mental retardation | 10743 | RAI1 | RAI1 | CTD_human | 19,752,160 | Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. | 0.400275 | Haploinsufficiency of <span class="gene" id="19752160-2-22-26">RAI1</span> results in developmental delay, <span class="disease" id="19752160-2-59-77">mental retardation</span>, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. | CTD_human;HPO |
1 | 0 | Biomarker | C0005283 | beta Thalassemia | disease | beta-thalassemia | 57817 | HAMP | hepcidin | CTD_human | 16,755,567 | We found decreased expression of hepcidin and TfR2 and increased expression of TfR1 and NGAL in the beta-thalassemia mouse models, compared with the control mice. | 0.206253 | We found decreased expression of <span class="gene" id="16755567-7-33-41">hepcidin</span> and TfR2 and increased expression of TfR1 and NGAL in the <span class="disease" id="16755567-7-100-116">beta-thalassemia</span> mouse models, compared with the control mice. | CTD_human |
null | null | Negative | MESH:D054058 | null | null | acute coronary syndromes | 84680 | null | NSTE-ACS | null | 28,089,498 | BACKGROUND: The most recent joint guidelines from the American Heart Association (AHA) and American College of Cardiology (ACC) on the management of non-ST-elevation acute coronary syndromes (NSTE-ACS) are a result of a substantial and considered undertaking, and those involved deserve much recognition for their efforts. | null | null | null |
14 | 97 | Biomarker | C0265354 | CHARGE Syndrome | disease | CHARGE syndrome | 55636 | CHD7 | Chd7 | CTD_human | 21,532,573 | Regulation of disease-associated genes by a Sox2-Chd7 complex provides a plausible explanation for several malformations associated with SOX2 anophthalmia syndrome or CHARGE syndrome. | 0.70988 | Regulation of disease-associated genes by a Sox2-<span class="gene" id="21532573-5-49-53">Chd7</span> complex provides a plausible explanation for several malformations associated with SOX2 anophthalmia syndrome or <span class="disease" id="21532573-5-167-182">CHARGE syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D002340 | null | null | carotid atherosclerosis | 404677 | null | CIMT | null | 28,150,294 | CONCLUSIONS: The results suggest that CIMT and risk of carotid atherosclerosis are significantly cor-related with PSV and upper body MS, more closely for the PSV than for the MS after adjustment for po-tential confounders. | null | null | null |
2 | 2 | Biomarker | C0339527 | Leber Congenital Amaurosis | disease | Leber congenital amaurosis | 57096 | RPGRIP1 | RPGRIP1 | CTD_human | 11,528,500 | Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. | 0.403846 | Complete exon-intron structure of the RPGR-interacting protein (<span class="gene" id="11528500-0-64-71">RPGRIP1</span>) gene allows the identification of mutations underlying <span class="disease" id="11528500-0-128-154">Leber congenital amaurosis</span>. | CTD_human;ORPHANET |
null | null | Negative | OMIM:612348 | null | null | FAP | 5747 | null | FAK | null | 28,014,425 | Given the extensive desmoplasia characteristic of pancreatic adenocarcinoma, we hypothesized that FAP and FAK would be overexpressed in pancreatic cancer and contribute to poor outcome. | null | null | null |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 406991 | MIR21 | MIR21 | CTD_human | 21,063,030 | Upregulation of microRNA 21 (MIR21) and DICER1 transcripts suggests roles for microRNAs (miRNAs) in the pathogenesis of severe versus mild endometriosis, potentially through regulation of gene silencing and epigenetic mechanisms. | 0.200549 | Upregulation of <span class="gene" id="21063030-9-16-27">microRNA 21</span> (<span class="gene" id="21063030-9-29-34">MIR21</span>) and DICER1 transcripts suggests roles for microRNAs (miRNAs) in the pathogenesis of severe versus mild <span class="disease" id="21063030-9-139-152">endometriosis</span>, potentially through regulation of gene silencing and epigenetic mechanisms. | CTD_human |
null | null | Negative | MESH:D010051 | null | null | Chinese hamster ovary | 5595;5594 | null | ERK1/2 | null | 28,169,296 | In Chinese hamster ovary (CHO) cells stably transfected with human FPR1 or FPR2, Compd17b is biased away from potentially detrimental FPR1/2-mediated calcium mobilization, but retains the pro-survival signalling, ERK1/2 and Akt phosphorylation, relative to Compd43. | null | null | null |
1 | 0 | Biomarker | C0020550 | Hyperthyroidism | disease | hyperthyroidism | 9607 | CARTPT | cocaine- and amphetamine-regulated transcript | CTD_human | 12,395,121 | These data indicate that the increments in food intake in hyperthyroidism could be mediated, at least in some extent, by a decreased expression, at the paraventricular nucleus of the hypothalamus, of the anorexigenic cocaine- and amphetamine-regulated transcript peptides. | 0.2 | These data indicate that the increments in food intake in <span class="disease" id="12395121-6-58-73">hyperthyroidism</span> could be mediated, at least in some extent, by a decreased expression, at the paraventricular nucleus of the hypothalamus, of the anorexigenic <span class="gene" id="12395121-6-217-262">cocaine- and amphetamine-regulated transcript</span> peptides. | CTD_human |
null | null | Negative | MESH:D003092 | null | null | colitis | 24835 | null | tumor necrosis factor-a | null | 28,040,845 | Biochemical experiments showed elevated levels of colonic MPO activity, interleukin 1b (IL-1b), interleukin 6 (IL-6) and tumor necrosis factor-a (TNF-a) in colitis control group. | null | null | null |
null | null | Negative | MESH:C565310 | null | null | intraductal papillary neoplasm | 29126 | null | PD-L1 | null | 28,139,862 | In cases of occupational cholangiocarcinoma, occasional PD-L1 expression was also noted in precancerous/preinvasive lesions such as biliary intraepithelial neoplasia and intraductal papillary neoplasm of the bile duct. | null | null | null |
null | null | Negative | MESH:D001172 | null | null | rheumatoid arthritis | 20361 | null | Sema7A | null | 28,109,308 | We examined the role of Sema7A in modulating cellular immune responses and to provide experimental data validating the therapeutic potential of Sema7A in rheumatoid arthritis (RA). | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24494 | null | IL-)1b | null | 28,086,121 | The animals were killed 7days after the treatments, and the mandibles were histologically processed to assess morphological and immunohistochemical profile, while gingival tissues were removed for quantification of tumor necrosis factor (TNF)-a, interleukin (IL-)1b and IL-10 expression (by ELISA). | null | null | null |
1 | 0 | Therapeutic | C0878544 | Cardiomyopathies | group | cardiomyopathy | 847 | CAT | catalase | CTD_human | 11,800,590 | The results indicate that catalase elevation in the heart prevents doxorubicin chronic cardiomyopathy. | 0.200549 | The results indicate that <span class="gene" id="11800590-9-26-34">catalase</span> elevation in the heart prevents doxorubicin chronic <span class="disease" id="11800590-9-87-101">cardiomyopathy</span>. | CTD_human |
null | null | Negative | MESH:D012164 | null | null | retinopathy | 59086 | null | TGF-b | null | 28,162,229 | The roles of transforming growth factor (TGF)-b in extracellular matrix production and vascular remodeling, coupled with increased TGF-b expression and signaling in diabetes, suggest TGF-b as an important contributor to the microangiopathy of diabetic retinopathy and nephropathy. | null | null | null |
null | null | Negative | MESH:D012164 | null | null | retinal injury | 104795671 | null | miR-15a | null | 28,173,719 | We postulate that miR-15a, produced in pancreatic b-cells, can enter the bloodstream and contribute to retinal injury. | null | null | null |
null | null | Negative | MESH:D002294 | null | null | squamous cell carcinoma | 100302273 | null | miR-1254 | null | 28,161,631 | AIM: This study aimed to determine the effect of miR-1254 on oral squamous cell carcinoma (OSCC) metastasis and the specific mechanism involved. | null | null | null |
null | null | Negative | MESH:D002372 | null | null | booster inoculations | 1437 | null | GM-CSF | null | 28,146,721 | Patients are randomized to receive either AE37+GM-CSF or GM-CSF alone in 6 monthly intradermal inoculations followed by booster inoculations administered every 6 months. | null | null | null |
1 | 0 | Biomarker | C0152013 | Adenocarcinoma of lung (disorder) | disease | ADC | 84444 | DOT1L | DOT1L | CTD_human | 27,158,780 | New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types. | 0.2 | New significantly mutated genes included PPP3CA, <span class="gene" id="27158780-3-49-54">DOT1L</span>, and FTSJD1 in lung <span class="disease" id="27158780-3-75-78">ADC</span>, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types. | CTD_human |
14 | 4 | Biomarker | C0032580 | Adenomatous Polyposis Coli | disease | familial adenomatous polyposis | 324 | APC | APC | CTD_human | 18,704,758 | Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence. | 0.897769 | Identification of somatic <span class="gene" id="18704758-0-26-29">APC</span> mutations in recurrent desmoid tumors in a patient with <span class="disease" id="18704758-0-86-116">familial adenomatous polyposis</span> to determine actual recurrence of the original tumor or de novo occurrence. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 2915 | GRM5 | mGluR5 | CTD_human | 17,634,364 | Loss of metabotropic glutamate receptor-dependent long-term depression via downregulation of mGluR5 after status epilepticus. | 0.2 | Loss of metabotropic glutamate receptor-dependent long-term depression via downregulation of <span class="gene" id="17634364-0-93-99">mGluR5</span> after <span class="disease" id="17634364-0-106-124">status epilepticus</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 1950 | EGF | EGF | CTD_human | 17,626,784 | SNP analyses of growth factor genes EGF, TGFbeta-1, and HGF reveal haplotypic association of EGF with autism. | 0.200275 | SNP analyses of growth factor genes <span class="gene" id="17626784-0-36-39">EGF</span>, TGFbeta-1, and HGF reveal haplotypic association of <span class="gene" id="17626784-0-93-96">EGF</span> with <span class="disease" id="17626784-0-102-108">autism</span>. | CTD_human |
1 | 0 | Biomarker | C0031511 | Pheochromocytoma | disease | pheochromocytomas | 4763 | NF1 | neurofibromatosis | CTD_human | 11,151,443 | Transplantable tumors and cell lines have been developed from pheochromocytomas arising in mice with a heterozygous knockout mutation of the neurofibromatosis gene, Nf1. | 0.208711 | Transplantable tumors and cell lines have been developed from <span class="disease" id="11151443-1-62-79">pheochromocytomas</span> arising in mice with a heterozygous knockout mutation of the <span class="gene" id="11151443-1-141-158">neurofibromatosis</span> gene, Nf1. | CTD_human |
1 | 0 | Biomarker | C0011881 | Diabetic Nephropathy | disease | diabetic nephropathy | 6648 | SOD2 | SOD2 | CTD_human | 24,819,633 | SOD2 allelic variations were associated with the incidence and the progression of diabetic nephropathy, with a faster decline in eGFR and with plasma AOPP concentration and SOD activity in subjects with type 1 diabetes. | 0.208371 | <span class="gene" id="24819633-13-0-4">SOD2</span> allelic variations were associated with the incidence and the progression of <span class="disease" id="24819633-13-82-102">diabetic nephropathy</span>, with a faster decline in eGFR and with plasma AOPP concentration and SOD activity in subjects with type 1 diabetes. | CTD_human |
2 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 6347 | CCL2 | CCL2 | CTD_human | 18,486,454 | Patients with schizophrenia show raised serum levels of the pro-inflammatory chemokine CCL2: association with the metabolic syndrome in patients? | 0.205154 | Patients with schizophrenia show raised serum levels of the pro-inflammatory chemokine <span class="gene" id="18486454-0-87-91">CCL2</span>: association with the <span class="disease" id="18486454-0-114-132">metabolic syndrome</span> in patients? | CTD_human |
2 | 0 | Biomarker | C0025958 | Microcephaly | disease | microcephaly | 6513 | SLC2A1 | SLC2A1 | CTD_human | 10,980,529 | Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1). | 0.201923 | Fifteen children presenting with infantile seizures, acquired <span class="disease" id="10980529-1-62-74">microcephaly</span>, and developmental delay were found to have novel heterozygous mutations in the <span class="gene" id="10980529-1-155-160">GLUT1</span> (<span class="gene" id="10980529-1-162-168">SLC2A1</span>). | CTD_human |