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1 | 0 | Biomarker | C0017638 | Glioma | disease | glioma | 482 | ATP1B2 | AMOG | CTD_human | 16,865,689 | Taken together, we identified interesting novel candidate genes that likely contribute to glioma progression and provide first evidence for a role of epigenetic silencing of AMOG in malignant glioma cells. | 0.203557 | Taken together, we identified interesting novel candidate genes that likely contribute to <span class="disease" id="16865689-7-90-96">glioma</span> progression and provide first evidence for a role of epigenetic silencing of <span class="gene" id="16865689-7-174-178">AMOG</span> in malignant glioma cells. | CTD_human |
null | null | Negative | MESH:D013345 | null | null | subarachnoid hemorrhage | 309757 | null | Silent information regulator family protein 1 | null | 28,017,962 | Silent information regulator family protein 1 (SIRT1), a member of the NAD+-dependent protein deacetylases, has been shown to exhibit neuroprotective activities in animal models of various pathologies, including ischemic brain injury, subarachnoid hemorrhage and several neurodegenerative diseases. | null | null | null |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anaemia | 2056 | EPO | erythropoietin | CTD_human | 12,713,065 | Normal erythropoietin response in chronic hepatitis C patients with ribavirin-induced anaemia. | 0.24092 | Normal <span class="gene" id="12713065-0-7-21">erythropoietin</span> response in chronic hepatitis C patients with ribavirin-induced <span class="disease" id="12713065-0-86-93">anaemia</span>. | CTD_human |
1 | 0 | Biomarker | C0021390 | Inflammatory Bowel Diseases | group | inflammatory bowel disease | 5743 | PTGS2 | COX-2 | CTD_human | 11,820,457 | In inflammatory bowel disease, increased production of prostaglandins by cyclooxygenase-2 (COX-2) contributes to bowel dysfunction, inflammatory edema, and hyperemia suggesting that inhibitors of COX-2 may have beneficial effect in gut inflammation. | 0.205704 | In <span class="disease" id="11820457-1-3-29">inflammatory bowel disease</span>, increased production of prostaglandins by <span class="gene" id="11820457-1-73-89">cyclooxygenase-2</span> (<span class="gene" id="11820457-1-91-96">COX-2</span>) contributes to bowel dysfunction, inflammatory edema, and hyperemia suggesting that inhibitors of <span class="gene" id="11820457-1-196-201">COX-2</span> may have beneficial effect in gut inflammation. | CTD_human |
1 | 0 | Biomarker | C0025312 | Meningomyelocele | disease | myelomeningocele | 8854 | ALDH1A2 | ALDH1A2 | CTD_human | 16,237,707 | These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans. | 0.203008 | These results may suggest that polymorphisms in <span class="gene" id="16237707-6-48-55">ALDH1A2</span> may influence the risk for lumbosacral <span class="disease" id="16237707-6-95-111">myelomeningocele</span> in humans. | CTD_human |
7 | 0 | Therapeutic | C0524909 | Hepatitis B, Chronic | disease | chronic hepatitis B | 3440 | IFNA2 | interferon alpha 2a | CTD_human | 16,944,240 | Lamivudine and high-dose interferon alpha 2a combination treatment in naïve HBeAg-positive immunoactive chronic hepatitis B in children: an East Mediterranean center's experience. | 0.206044 | Lamivudine and high-dose <span class="gene" id="16944240-0-25-44">interferon alpha 2a</span> combination treatment in naïve HBeAg-positive immunoactive <span class="disease" id="16944240-0-104-123">chronic hepatitis B</span> in children: an East Mediterranean center's experience. | CTD_human |
1 | 0 | Biomarker | C0020877 | Ileitis | disease | ileitis | 3684 | ITGAM | alphaM-MAC-1 | CTD_human | 10,647,630 | Effect of anti-CD11b (alphaM-MAC-1) and anti-CD54 (ICAM-1) monoclonal antibodies on indomethacin induced chronic ileitis in rats. | 0.2 | Effect of anti-<span class="gene" id="10647630-0-15-20">CD11b</span> (<span class="gene" id="10647630-0-22-34">alphaM-MAC-1</span>) and anti-CD54 (ICAM-1) monoclonal antibodies on indomethacin induced chronic <span class="disease" id="10647630-0-113-120">ileitis</span> in rats. | CTD_human |
6 | 14 | Biomarker | C0175701 | Aarskog syndrome | disease | Aarskog-Scott syndrome | 2245 | FGD1 | FGD1 | CTD_human | 14,560,308 | Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. | 0.607967 | Phenotypic and molecular characterisation of the <span class="disease" id="14560308-0-49-71">Aarskog-Scott syndrome</span>: a survey of the clinical variability in light of <span class="gene" id="14560308-0-122-126">FGD1</span> mutation analysis in 46 patients. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D003643 | null | null | BMDM death | 13030 | null | cathepsin B | null | 28,182,011 | Inhibition of the lysosomal protease, cathepsin B, partially blocked Tak1-deficient BMDM death, suggesting that leakage of the lysosomal contents is in part the cause of cell death. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 79116 | null | Apex1 | null | 28,094,306 | Gene expression profiles showed that Apex1 was significantly downregulated in the offspring of diabetic dams. | null | null | null |
null | null | Negative | MESH:D000230 | null | null | LC | 11545 | null | Parp-1 | null | 28,177,129 | We hypothesized that protein catabolism, proteolytic markers, muscle fiber phenotype, and muscle anabolism may improve in respiratory and limb muscles of LC-cachectic Parp-1-deficient (Parp-1(-/-) ) and Parp-2(-/-) mice. | null | null | null |
null | null | Negative | MESH:C562602 | null | null | GM | 1493 | null | CTLA-4 | null | 28,136,075 | UNASSIGNED: CRA9007 Background: CTLA-4 blockade and GM secreting tumor vaccine combinations demonstrate therapeutic synergy in multiple preclinical models. | null | null | null |
2 | 23 | Biomarker | C0028326 | Noonan Syndrome | disease | Noonan syndrome | 6654 | SOS1 | SOS1 | CTD_human | 17,603,482 | Mutations of PTPN11, KRAS and SOS1 in the RAS-MAPK pathway cause approximately 60% of cases of Noonan syndrome. | 0.433616 | Mutations of PTPN11, KRAS and <span class="gene" id="17603482-2-30-34">SOS1</span> in the RAS-MAPK pathway cause approximately 60% of cases of <span class="disease" id="17603482-2-95-110">Noonan syndrome</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0085109 | Corneal Neovascularization | disease | corneal neovascularization | 2247 | FGF2 | bFGF | CTD_human | 9,301,478 | Experiments examining thalidomide's enantiomers reveal-that the S(-)-enantiomer has the strongest antiangiogenic activity in VEGF-induced and bFGF-induced corneal neovascularization. | 0.203008 | Experiments examining thalidomide's enantiomers reveal-that the S(-)-enantiomer has the strongest antiangiogenic activity in VEGF-induced and <span class="gene" id="9301478-4-142-146">bFGF</span>-induced <span class="disease" id="9301478-4-155-181">corneal neovascularization</span>. | CTD_human |
1 | 0 | Therapeutic | C0011854 | Diabetes Mellitus, Insulin-Dependent | disease | type 1 diabetes | 26291 | FGF21 | FGF21 | CTD_human | 23,499,715 | Protective effect of FGF21 on type 1 diabetes-induced testicular apoptotic cell death probably via both mitochondrial- and endoplasmic reticulum stress-dependent pathways in the mouse model. | 0.2 | Protective effect of <span class="gene" id="23499715-0-21-26">FGF21</span> on <span class="disease" id="23499715-0-30-45">type 1 diabetes</span>-induced testicular apoptotic cell death probably via both mitochondrial- and endoplasmic reticulum stress-dependent pathways in the mouse model. | CTD_human |
null | null | Negative | MESH:D065626 | null | null | Non-alcoholic fatty liver | 28508 | null | DM2 | null | 28,062,870 | UNASSIGNED: Non-alcoholic fatty liver (NASH) is widely distributed around the world and is more common in subjects with dyslipidemia, metabolic syndrome obese and DM2 (34-74%). | null | null | null |
1 | 0 | Biomarker | C0029456 | Osteoporosis | disease | osteoporosis | 9365 | KL | klotho | CTD_human | 9,363,890 | A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, osteoporosis and emphysema. | 0.201099 | A defect in <span class="gene" id="9363890-2-12-18">klotho</span> gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, <span class="disease" id="9363890-2-172-184">osteoporosis</span> and emphysema. | CTD_human |
null | null | Negative | MESH:D007511 | null | null | ischemic injury | 24225 | null | BDNF | null | 28,116,292 | These results indicate that rehabilitation raining plus resveratrol can significantly improve the recovery of motor function in rats after cerebral ischemic injury, which is likely related to the upregulation of the BDNF/TrkB signaling pathway. | null | null | null |
null | null | Negative | MESH:D020159 | null | null | Thymidylate synthase | 2597 | null | GAPDH | null | 28,013,739 | Thymidylate synthase (TS), thymidine phosphorylase (TP), dihydropyrimidine dehydrogenase (DPD) and TNFa mRNA/GAPDH mRNA relative levels from tumor and adjacent tissue has been measured by means of Real Time PCR. | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anaemia | 2056 | EPO | erythropoietin | CTD_human | 12,713,065 | Normal erythropoietin response in chronic hepatitis C patients with ribavirin-induced anaemia. | 0.24092 | Normal <span class="gene" id="12713065-0-7-21">erythropoietin</span> response in chronic hepatitis C patients with ribavirin-induced <span class="disease" id="12713065-0-86-93">anaemia</span>. | CTD_human |
null | null | Negative | MESH:D007238 | null | null | infarct | 24494 | null | IL-1b | null | 28,152,042 | Pregabalin-treated rats showed significantly improved neurological function (31% decrease in score), reduced infarct size (by 33%), fewer apoptotic cells (by 63%), and lower expression levels of HMGB1, TLR4, p-NF-kB, IL-1b, and TNF- a, compared with control rats. | null | null | null |
null | null | Negative | MESH:D013953 | null | null | thymic stromal lymphopoietin | 53603 | null | TSLP | null | 28,115,699 | We previously reported that selective ablation of the nuclear receptors retinoid X receptor (RXR)-a and RXR-b in mouse epidermal keratinocytes (RXR-ab<sup>ep-/-</sup>) or a topical application of active vitamin D3 (VD3) and/or all-trans retinoic acid (RA) on wild-type mouse skin induces a human atopic dermatitis-like phenotype that is triggered by an increased expression of the thymic stromal lymphopoietin (TSLP) proinflammatory cytokine. | null | null | null |
null | null | Negative | MESH:D020191 | null | null | NOD | 14526 | null | GLP-1 | null | 28,182,934 | A single administration of rAd-GLP-1 via the tail vein into streptozotocin (STZ)-induced diabetic non-obese diabetic/severe combined immunodeficient (NOD/SCID) mice resulted in remission of diabetes within 10 days; normoglycemia remained until the experiment was terminated. | null | null | null |
null | null | Negative | MESH:D014842 | null | null | von Willebrand | 7422 | null | vascular endothelial growth factor | null | 28,017,358 | The expression of the endothelial-specific markers was determined by reverse transcriptase-quantitative PCR (RT-qPCR), while immunofluorescent analysis demonstrated that the induced hAF-MSCs expressed von Willebrand factor (vWF), vascular endothelial growth factor receptor 2 (VEGFR2), CD31 and endothelial nitric oxide synthase (eNOS). | null | null | null |
3 | 1 | Biomarker | C1275808 | Congenital central hypoventilation | disease | congenital central hypoventilation syndrome | 8929 | PHOX2B | PHOX2b | CTD_human | 14,608,649 | Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. | 0.710364 | Idiopathic <span class="disease" id="14608649-0-11-54">congenital central hypoventilation syndrome</span>: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in <span class="gene" id="14608649-0-177-183">PHOX2b</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 11186 | RASSF1 | RASSF1A | CTD_human | 18,337,602 | In a multivariate model, promoter methylation of the cyclin-dependent kinase inhibitor 2A gene p16, the H-cadherin gene CDH13, the Ras association domain family 1 gene RASSF1A, and the adenomatous polyposis coli gene APC in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of NSCLC stage, age, sex, race, smoking history, and histologic characteristics of the tumor. | 0.215044 | In a multivariate model, promoter methylation of the cyclin-dependent kinase inhibitor 2A gene p16, the H-cadherin gene CDH13, the Ras association domain family 1 gene <span class="gene" id="18337602-5-168-175">RASSF1A</span>, and the adenomatous polyposis coli gene APC in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of <span class="disease" id="18337602-5-335-340">NSCLC</span> stage, age, sex, race, smoking history, and histologic characteristics of the tumor. | CTD_human |
1 | 0 | Biomarker | C0025958 | Microcephaly | disease | microcephaly | 8573 | CASK | CASK | CTD_human | 19,165,920 | Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. | 0.201923 | Mutations of <span class="gene" id="19165920-0-13-17">CASK</span> cause an X-linked brain malformation phenotype with <span class="disease" id="19165920-0-70-82">microcephaly</span> and hypoplasia of the brainstem and cerebellum. | CTD_human |
null | null | Negative | MESH:D001168 | null | null | arthritis | 14824 | null | Progranulin | null | 28,011,648 | Progranulin (PGRN) restrains inflammation and is therapeutic against inflammatory arthritis; however, the underlying immunological mechanism remains unknown. | null | null | null |
7 | 23 | Biomarker | C1848533 | Ataxia with vitamin E deficiency | disease | Ataxia with vitamin E deficiency | 7274 | TTPA | TTPA | CTD_human | 12,470,185 | Ataxia with vitamin E deficiency is a recessive autosomal neurodegenerative disorder resembling the Friedreich ataxia phenotype but is due to mutations in the alpha-tocopherol transfer protein (TTPA) gene. | 0.686044 | <span class="disease" id="12470185-1-0-32">Ataxia with vitamin E deficiency</span> is a recessive autosomal neurodegenerative disorder resembling the Friedreich ataxia phenotype but is due to mutations in the alpha-tocopherol transfer protein (<span class="gene" id="12470185-1-194-198">TTPA</span>) gene. | CTD_human;ORPHANET;UNIPROT |
1 | 1 | Biomarker | C0268474 | Hydroxykynureninuria | phenotype | Xanthurenic aciduria | 8942 | KYNU | kynureninase | CTD_human | 17,334,708 | Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. | 0.600275 | <span class="disease" id="17334708-0-0-20">Xanthurenic aciduria</span> due to a mutation in <span class="gene" id="17334708-0-42-46">KYNU</span> encoding <span class="gene" id="17334708-0-56-68">kynureninase</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D009205 | null | null | viral myocarditis | 77125 | null | IL-33 | null | 28,041,873 | However, the functional role of IL-33 in viral myocarditis has not been investigated. | null | null | null |
null | null | Negative | MESH:D009765 | null | null | obesity | 24952 | null | GLP-1 | null | 28,161,724 | PURPOSE: Increasing secretion and production of glucagon-like peptide-1 (GLP-1) by continuous ingestion of certain food components has been expected to prevent glucose intolerance and obesity. | null | null | null |
null | null | Negative | MESH:D010146 | null | null | pain | 104443 | null | NPFFR2 | null | 28,179,153 | The aim of this study was to delineate the role of NPFFR2 in pain transmission. | null | null | null |
1 | 0 | Biomarker | C0027889 | Hereditary Sensory and Autonomic Neuropathies | group | hereditary sensory and autonomic neuropathy | 1786 | DNMT1 | DNMT1 | CTD_human | 21,532,572 | Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss. | 0.201374 | Here we show that mutations in <span class="gene" id="21532572-3-31-36">DNMT1</span> cause both central and peripheral neurodegeneration in one form of <span class="disease" id="21532572-3-104-147">hereditary sensory and autonomic neuropathy</span> with dementia and hearing loss. | CTD_human |
1 | 0 | Biomarker | C0017638 | Glioma | disease | gliomas | 9444 | QKI | QKI | CTD_human | 26,829,751 | We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas. | 0.200549 | We identified MYB-<span class="gene" id="26829751-3-18-21">QKI</span> fusions as a specific and single candidate driver event in angiocentric <span class="disease" id="26829751-3-94-101">gliomas</span>. | CTD_human |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | RA | 3486 | IGFBP3 | insulin-like growth factor binding protein 3 | CTD_human | 17,379,860 | Treatment with methotrexate resulted in the reversion of the RA-related expression profile of genes associated with growth and apoptosis including insulin-like growth factor binding protein 3, retinoic acid induced 3, and caveolin 2 as well as in the re-expression of the cell adhesion molecule integrin alpha6. | 0.200549 | Treatment with methotrexate resulted in the reversion of the <span class="disease" id="17379860-6-61-63">RA</span>-related expression profile of genes associated with growth and apoptosis including <span class="gene" id="17379860-6-147-191">insulin-like growth factor binding protein 3</span>, retinoic acid induced 3, and caveolin 2 as well as in the re-expression of the cell adhesion molecule integrin alpha6. | CTD_human |
null | null | Negative | MESH:D015212 | null | null | IBD | 24058 | null | SIGIRR | null | 28,153,604 | Single Ig domain containing IL-1 receptor-related molecule (SIGIRR), a negative regulator of the TLR signaling pathway, whether had a therapeutic effect in a mouse model of IBD, and the underlying mechanism has not been investigated. | null | null | null |
null | null | Negative | MESH:D056487 | null | null | chronic liver injury | 20303 | null | CCl4 | null | 28,058,188 | For the induction of chronic liver injury, mice were repetitively administered twice a week with CCl4, a well-known hepatotoxin, for a period of 4 weeks. | null | null | null |
null | null | Negative | MESH:D016609 | null | null | time on treatment | 3439 | null | IFN | null | 28,023,954 | METHODS: We compared the time on treatment (TOT), post-treatment survival (PTS), overall survival (OS), and tumor growth rate constants (g) of patients (pts) with mRCC randomized to either SU or IFN. | null | null | null |
25 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 348 | APOE | apolipoprotein E | CTD_human | 19,124,646 | Using a high-fat diet-induced atherosclerosis apolipoprotein E(-/-) mouse model, we demonstrate that administration of the potent PARP inhibitor, thieno[2,3-c]isoquinolin-5-one (TIQ-A), when combined with a regular diet regimen during treatment, induced regression of established plaques. | 0.587329 | Using a high-fat diet-induced <span class="disease" id="19124646-4-30-45">atherosclerosis</span> <span class="gene" id="19124646-4-46-62">apolipoprotein E</span>(-/-) mouse model, we demonstrate that administration of the potent PARP inhibitor, thieno[2,3-c]isoquinolin-5-one (TIQ-A), when combined with a regular diet regimen during treatment, induced regression of established plaques. | CTD_human;HPO |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 2056 | EPO | epo | CTD_human | 16,699,298 | Erythropoietin (Epo) and the epo-receptor (EpoR) have been implicated in tumor growth, invasion and metastasis. | 0.203282 | <span class="gene" id="16699298-1-0-14">Erythropoietin</span> (<span class="gene" id="16699298-1-16-19">Epo</span>) and the <span class="gene" id="16699298-1-29-32">epo</span>-receptor (EpoR) have been implicated in tumor growth, invasion and <span class="disease" id="16699298-1-100-110">metastasis</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 17329 | null | CXCL9 | null | 28,022,729 | UNASSIGNED: e21158 Background: In murine cancer models, the two IFN-y inducible chemokines CXCL9 and CXCL10, those bind to the common receptor CXCR3, recruit NK cells and tumor-suppressive lymphocytes into the tumor site and impair tumor growth and metastatic spread. | null | null | null |
null | null | Negative | MESH:D012507 | null | null | sarcoidosis | 7249 | null | TSC2 | null | 28,092,373 | Collectively, TSC2 maintains macrophage quiescence and prevents mTORC1-dependent granulomatous disease with clinical implications for sarcoidosis. | null | null | null |
null | null | Negative | MESH:C566404 | null | null | atopic epidermis | 85480 | null | thymic stromal lymphopoietin | null | 28,057,434 | Upon activation of the ORAI1 calcium channel, atopic epidermis releases large amounts of thymic stromal lymphopoietin (TSLP), which initiates the Th2 and Th22 immune response. | null | null | null |
null | null | Negative | MESH:D006331 | null | null | Advanced Cardiac Life Support | 396995 | null | vasopressin | null | 28,140,438 | INTRODUCTION: The American Heart Association (AHA) recommends intravenous (IV) or intraosseous (IO) vasopressin in Advanced Cardiac Life Support (ACLS). | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 2263 | null | FGFR2 | null | 28,023,375 | Despite including these covariates in the PGx analyses,five SNPs in IL8, FGFR2, NR1I2and ABCB1showed nominally significant association with OS (P<= 0.05). | null | null | null |
null | null | Negative | MESH:D009410 | null | null | neuronal apoptosis | 140908 | null | CDK5 | null | 28,045,138 | Abundant evidence indicates that CDK5 hyperactivities associated with neuronal apoptosis and death following ischemic stroke. | null | null | null |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 3238 | HOXD12 | HOXD12 | CTD_human | 16,778,180 | CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes. | 0.2 | CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, <span class="gene" id="16778180-3-190-196">HOXD12</span>, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 <span class="disease" id="16778180-3-352-360">melanoma</span> cell lines but not in two cultured normal melanocytes. | CTD_human |
5 | 3 | Biomarker | C0004096 | Asthma | disease | asthma | 9173 | IL1RL1 | IL1RL1 | CTD_human | 21,804,549 | Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. | 0.225077 | Four were at previously reported loci on 17q21, near <span class="gene" id="21804549-3-53-59">IL1RL1</span>, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with <span class="disease" id="21804549-3-164-170">asthma</span> risk in three ethnic groups. | CTD_human |
null | null | Negative | MESH:D009402 | null | null | minimal change disease | 60498 | null | IgAN | null | 28,197,459 | The most common diagnostic entity was IgMN (46.6%) followed by IgAN (30%) along with few cases of class II LN, C1qN, minimal change disease (MCD), Alport's syndrome, focal segmental glomerulosclerosis (FSGS), thin basement membrane disease (TBMD), and fibrillary glomerulonephritis. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 50787 | null | HS6ST3 | null | 28,017,727 | This study aimed to analyze the expression and function of HS6ST3 in breast cancer. | null | null | null |
null | null | Negative | MESH:D014766 | null | null | viremia | 59271 | null | B19 | null | 28,142,135 | B19 DNA was detected in 10% of the cases, and 10% showed B19 IgG and viremia simultaneously. | null | null | null |
12 | 0 | Therapeutic | C0027947 | Neutropenia | disease | neutropenia | 1440 | CSF3 | G-CSF | CTD_human | 12,884,814 | Neutropenia was a dose limiting factor with half of the cases (7/14) presenting with severe neutropenia (grade 3-4), but a response was observed in all of them on administration of G-CSF. | 0.21537 | <span class="disease" id="12884814-10-0-11">Neutropenia</span> was a dose limiting factor with half of the cases (7/14) presenting with severe <span class="disease" id="12884814-10-92-103">neutropenia</span> (grade 3-4), but a response was observed in all of them on administration of <span class="gene" id="12884814-10-181-186">G-CSF</span>. | CTD_human |
null | null | Negative | MESH:D054069 | null | null | EMA | 596 | null | bcl-2 | null | 28,045,832 | Pan-cytokeratin (AE1/AE3), desmin, alpha-SMA, EMA, bcl-2, p53, and remarkably retinoblastoma protein (pRb) were negative. | null | null | null |
null | null | Negative | MESH:D005955 | null | null | phosphate-buffered saline | 16173 | null | IL-18 | null | 28,176,248 | Three groups of normal chow diet-fed, male Apo E-/- mice, aged 12 weeks (n = 6/group) were employed: Gp I, phosphate-buffered saline (PBS) (2 mo): Gp II, recombinant IL-18 (rIL-18) (1 mo) followed by PBS (1 mo); Gp III, rIL-18 (1 mo) followed by pyrrolidine dithiocarbamate (PDTC) (1 mo). | null | null | null |
1 | 0 | Therapeutic | C0009241 | Cognition Disorders | group | cognitive deficits | 7432 | VIP | VIP | CTD_human | 8,208,360 | Thus, VIP appears to have an ameliorating effect on spatial cognitive deficits induced by scopolamine in the rat. | 0.2 | Thus, <span class="gene" id="8208360-3-6-9">VIP</span> appears to have an ameliorating effect on spatial <span class="disease" id="8208360-3-60-78">cognitive deficits</span> induced by scopolamine in the rat. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 16153 | null | interleukin (IL)-10 | null | 28,031,106 | Concentrations of interleukin (IL)-10, IL-6, IL-1b and tumor necrosis factor (TNF)-a in sera were measured by ELISA. | null | null | null |
null | null | Negative | MESH:D001260 | null | null | T-helper 2 | 16191 | null | IL-5 | null | 28,078,033 | Intravenous injection of BMSCs significantly reduced allergic symptoms, eosinophil infiltration, OVA-specific immunoglobulin E (IgE), T-helper 2 (Th2) cytokine profile (interleukin (IL)-4, IL-5 and IL-13) and regulatory cytokines (IL-10). | null | null | null |
null | null | Negative | MESH:D012892 | null | null | energy deprivation | 5079 | null | PAX5 | null | 28,192,788 | Our metabolic analyses revealed that PAX5 and IKZF1 enforce a state of chronic energy deprivation, resulting in constitutive activation of the energy-stress sensor AMPK. | null | null | null |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | Hypertension | 5443 | POMC | ACTH | CTD_human | 3,001,556 | [Hypertension induced by adrenocorticotropin (ACTH)]. | 0.203846 | [<span class="disease" id="3001556-0-1-13">Hypertension</span> induced by <span class="gene" id="3001556-0-25-44">adrenocorticotropin</span> (<span class="gene" id="3001556-0-46-50">ACTH</span>)]. | CTD_human |
2 | 0 | Biomarker | C0393576 | Chorea Acanthocytosis Syndrome | disease | neuroacanthocytosis | 7504 | XK | McLeod syndrome | CTD_human | 8,619,554 | A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. | 0.200824 | A novel point mutation in the <span class="gene" id="8619554-0-30-45">McLeod syndrome</span> gene in <span class="disease" id="8619554-0-54-73">neuroacanthocytosis</span>. | CTD_human |
52 | 416 | Biomarker | C0010674 | Cystic Fibrosis | disease | cystic fibrosis | 1080 | CFTR | cystic fibrosis transmembrane conductance regulator | CTD_human | 17,347,447 | No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. | 1 | No detectable improvements in <span class="gene" id="17347447-0-30-81">cystic fibrosis transmembrane conductance regulator</span> by nasal aminoglycosides in patients with <span class="disease" id="17347447-0-124-139">cystic fibrosis</span> with stop mutations. | CTD_human;ORPHANET;UNIPROT |
6 | 2 | Therapeutic | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2DM | 169026 | SLC30A8 | ZnT-8 | CTD_human | 21,461,562 | In this study, we aimed to explore the expression of ZnT-8 in the development of T2DM. | 0.301703 | In this study, we aimed to explore the expression of <span class="gene" id="21461562-3-53-58">ZnT-8</span> in the development of <span class="disease" id="21461562-3-81-85">T2DM</span>. | CTD_human |
null | null | Negative | MESH:C567886 | null | null | XPC | 2068 | null | ERCC2 | 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 |
52 | 416 | Biomarker | C0010674 | Cystic Fibrosis | disease | Cystic fibrosis | 1080 | CFTR | CFTR | CTD_human | 17,541,014 | Cystic fibrosis results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. | 1 | <span class="disease" id="17541014-1-0-15">Cystic fibrosis</span> results from mutations in the <span class="gene" id="17541014-1-46-97">cystic fibrosis transmembrane conductance regulator</span> (<span class="gene" id="17541014-1-99-103">CFTR</span>) gene. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D009369 | null | null | tumors | 17131 | null | SMAD7 | null | 28,134,936 | Here, we show that conditional (TTR-Cre) hepatocyte-specific SMAD7 knockout (KO) mice develop more tumors than wild-type and corresponding SMAD7 transgenic mice 9 months after diethylnitrosamine (DEN) challenge, verifying SMAD7 as a tumor suppressor in HCC. | null | null | null |
null | null | Negative | MESH:D014511 | null | null | uremia | 16396 | null | itch | null | 28,176,353 | ABSTRACT: Intractable and continuous itch sensations often accompany diseases such as atopic dermatitis, neurogenic lesions, uremia and cholestasis. | null | null | null |
2 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 23327 | NEDD4L | Nedd4-2 | CTD_human | 18,524,855 | Salt-sensitive hypertension and cardiac hypertrophy in mice deficient in the ubiquitin ligase Nedd4-2. | 0.227037 | Salt-sensitive <span class="disease" id="18524855-0-15-27">hypertension</span> and cardiac hypertrophy in mice deficient in the ubiquitin ligase <span class="gene" id="18524855-0-94-101">Nedd4-2</span>. | CTD_human |
1 | 0 | Biomarker | C1336708 | Testicular Germ Cell Tumor | disease | TGCT | 27306 | HPGDS | HPGDS | CTD_human | 23,666,239 | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.200549 | In the combined analysis, risk of <span class="disease" id="23666239-4-34-38">TGCT</span> was significantly associated with markers at four previously unreported loci: 4q22.2 in <span class="gene" id="23666239-4-127-132">HPGDS</span> (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | CTD_human |
1 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumours | 8614 | STC2 | STC2 | CTD_human | 18,492,817 | Breast tumour gene profiling studies have demonstrated significantly upregulated STC2 expression in hormone-responsive positive breast tumours; therefore, the purpose of this study was to investigate STC2 hormonal regulation and function in breast cancer cells. | 0.205741 | <span class="disease" id="18492817-2-0-13">Breast tumour</span> gene profiling studies have demonstrated significantly upregulated <span class="gene" id="18492817-2-81-85">STC2</span> expression in hormone-responsive positive <span class="disease" id="18492817-2-128-142">breast tumours</span>; therefore, the purpose of this study was to investigate <span class="gene" id="18492817-2-200-204">STC2</span> hormonal regulation and function in breast cancer cells. | CTD_human |
1 | 0 | Biomarker | C0009241 | Cognition Disorders | group | Cognitive deficits | 7248 | TSC1 | Tsc1 | CTD_human | 18,067,135 | Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures. | 0.2 | <span class="disease" id="18067135-0-0-18">Cognitive deficits</span> in <span class="gene" id="18067135-0-22-26">Tsc1</span>+/- mice in the absence of cerebral lesions and seizures. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 17086 | null | NKp46 | null | 28,134,248 | UNASSIGNED: Natural killer (NK) cells eradicate infected cells and tumors following the triggering of activating receptors, like the Natural Cytotoxicity Receptors (NCRs), which include NKp30, NKp44 and NKp46. | null | null | null |
6 | 0 | Biomarker | C0002874 | Aplastic Anemia | disease | aplastic anemia | 1440 | CSF3 | G-CSF | CTD_human | 10,629,575 | Ticlopidine-induced aplastic anemia and quick recovery with G-CSF: case report and literature review. | 0.201923 | Ticlopidine-induced <span class="disease" id="10629575-0-20-35">aplastic anemia</span> and quick recovery with <span class="gene" id="10629575-0-60-65">G-CSF</span>: case report and literature review. | CTD_human |
3 | 50 | Biomarker | C0007193 | Cardiomyopathy, Dilated | group | dilated cardiomyopathy | 4000 | LMNA | lamin A/C | CTD_human | 21,689,390 | Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy. | 0.457851 | Late gadolinium enhanced cardiovascular magnetic resonance of <span class="gene" id="21689390-0-62-71">lamin A/C</span> gene mutation related <span class="disease" id="21689390-0-94-116">dilated cardiomyopathy</span>. | CTD_human;HPO |
1 | 0 | Therapeutic | C0038325 | Stevens-Johnson Syndrome | disease | Stevens-Johnson syndrome | 213 | ALB | albumin | CTD_human | 12,239,465 | Her hepatic failure and symptoms of Stevens-Johnson syndrome were successfully treated with intravenous prednisolone and infusion of fresh-frozen plasma or albumin, as the occasion demanded. | 0.2 | Her hepatic failure and symptoms of <span class="disease" id="12239465-2-36-60">Stevens-Johnson syndrome</span> were successfully treated with intravenous prednisolone and infusion of fresh-frozen plasma or <span class="gene" id="12239465-2-156-163">albumin</span>, as the occasion demanded. | CTD_human |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 3,158,602 | The effects of the calcium entry blocker nitrendipine on blood pressure (BP) and renal hemodynamics were studied in rats with angiotensin II (ANG II)-induced hypertension. | 0.52 | The effects of the calcium entry blocker nitrendipine on blood pressure (BP) and renal hemodynamics were studied in rats with <span class="gene" id="3158602-1-126-140">angiotensin II</span> (ANG II)-induced <span class="disease" id="3158602-1-158-170">hypertension</span>. | CTD_human |
6 | 0 | Biomarker | C0011581 | Depressive disorder | disease | depression | 121278 | TPH2 | TPH2 | CTD_human | 17,950,541 | The results of the present study suggest that TPH2 gene expression in the midbrain part of the DRN is implicated in depression and stress response, as well as in the antidepressant fluoxetine action. | 0.406593 | The results of the present study suggest that <span class="gene" id="17950541-7-46-50">TPH2</span> gene expression in the midbrain part of the DRN is implicated in <span class="disease" id="17950541-7-116-126">depression</span> and stress response, as well as in the antidepressant fluoxetine action. | CTD_human;PSYGENET |
null | null | Negative | OMIM:143890 | null | null | familial hypercholesterolemia | 7941 | null | lipoprotein-associated phospholipase A2 | null | 28,156,151 | ABBREVIATIONS: A1C = hemoglobin A1C ACE = American College of Endocrinology ACS = acute coronary syndrome AHA = American Heart Association ASCVD = atherosclerotic cardiovascular disease ATP = Adult Treatment Panel apo = apolipoprotein BEL = best evidence level CKD = chronic kidney disease CPG = clinical practice guidelines CVA = cerebrovascular accident EL = evidence level FH = familial hypercholesterolemia HDL-C = high-density lipoprotein cholesterol HeFH = heterozygous familial hypercholesterolemia HIV = human immunodeficiency virus HoFH = homozygous familial hypercholesterolemia hsCRP = high-sensitivity C-reactive protein LDL-C = low-density lipoprotein cholesterol Lp-PLA2 = lipoprotein-associated phospholipase A2 MESA = Multi-Ethnic Study of Atherosclerosis MetS = metabolic syndrome MI = myocardial infarction NCEP = National Cholesterol Education Program PCOS = polycystic ovary syndrome PCSK9 = proprotein convertase subtilisin/kexin type 9 T1DM = type 1 diabetes mellitus T2DM = type 2 diabetes mellitus TG = triglycerides VLDL-C = very low-density lipoprotein cholesterol. | null | null | null |
null | null | Negative | MESH:D040181 | null | null | X-linked IAP | 13982 | null | ERa | null | 28,154,167 | Mechanistically, it preferentially recruits X-linked IAP (XIAP) rather than cellular IAP1, to degrade ERa via the ubiquitin-proteasome pathway. | null | null | null |
1 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 3371 | TNC | tenascin-C | CTD_human | 16,115,819 | Coding SNP in tenascin-C Fn-III-D domain associates with adult asthma. | 0.210345 | Coding SNP in <span class="gene" id="16115819-0-14-24">tenascin-C</span> Fn-III-D domain associates with adult <span class="disease" id="16115819-0-63-69">asthma</span>. | CTD_human |
null | null | Negative | MESH:D015212 | null | null | inflammatory bowel disease | 671 | null | Bactericidal/permeability increasing protein | null | 28,035,462 | OBJECTIVE: Bactericidal/permeability increasing protein (BPI) gene polymorphisms have been extensively investigated in terms of their associations with inflammatory bowel disease (IBD), with contradictory results. | null | null | null |
1 | 0 | Therapeutic | C0029463 | Osteosarcoma | disease | osteosarcoma | 442894 | MIR302B | miR-302b | CTD_human | 23,845,851 | Epirubicin-mediated expression of miR-302b is involved in osteosarcoma apoptosis and cell cycle regulation. | 0.2 | Epirubicin-mediated expression of <span class="gene" id="23845851-0-34-42">miR-302b</span> is involved in <span class="disease" id="23845851-0-58-70">osteosarcoma</span> apoptosis and cell cycle regulation. | CTD_human |
1 | 0 | Biomarker | C0919267 | ovarian neoplasm | disease | ovarian tumors | 2516 | NR5A1 | steroidogenic factor?1 | CTD_human | 23,291,911 | Genetic and epigenetic alterations of steroidogenic factor?1 in ovarian tumors. | 0.200549 | Genetic and epigenetic alterations of <span class="gene" id="23291911-0-38-60">steroidogenic factor?1</span> in <span class="disease" id="23291911-0-64-78">ovarian tumors</span>. | CTD_human |
null | null | Negative | MESH:D001661 | null | null | biliary tract cancer | 1084 | null | carcinoembryonic antigen | null | 28,111,425 | PURPOSE: While tumor markers (carbohydrate antigen 19-9 [CA 19-9] and carcinoembryonic antigen [CEA]) can aid in the diagnosis of biliary tract cancer, their prognostic role has not been clearly elucidated. | null | null | null |
null | null | Negative | MESH:D003715 | null | null | dengue | 3565;3586 | null | IL-4 and -10 | null | 28,195,094 | The serum levels of IL-4 and -10 were significantly raised in severe dengue cases as compared to nonsevere dengue cases. | null | null | null |
1 | 0 | Therapeutic | C0014544 | Epilepsy | disease | epilepsy | 57282 | SLC4A10 | Slc4a10 | CTD_human | 18,165,320 | Hence, Slc4a10 is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure. | 0.200549 | Hence, <span class="gene" id="18165320-8-7-14">Slc4a10</span> is a promising pharmacological target for the therapy of <span class="disease" id="18165320-8-72-80">epilepsy</span> or elevated intracranial pressure. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 5141 | PDE4A | PDE4A | CTD_human | 18,090,323 | Our results demonstrate altered expressions of the PDE4A and PDE4B proteins in the brains of subjects with autism and might provide new therapeutic avenues for the treatment of this debilitating disorder. | 0.200275 | Our results demonstrate altered expressions of the <span class="gene" id="18090323-6-51-56">PDE4A</span> and PDE4B proteins in the brains of subjects with <span class="disease" id="18090323-6-107-113">autism</span> and might provide new therapeutic avenues for the treatment of this debilitating disorder. | CTD_human |
1 | 6 | Biomarker | C0796013 | Zimmerman Laband syndrome | disease | Zimmermann-Laband syndrome | 3756 | KCNH1 | KCNH1 | CTD_human | 25,915,598 | Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. | 0.600824 | Mutations in <span class="gene" id="25915598-0-13-18">KCNH1</span> and ATP6V1B2 cause <span class="disease" id="25915598-0-38-64">Zimmermann-Laband syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumors | 7480 | WNT10B | WNT10B | CTD_human | 12,437,293 | Elevated levels of estrogen and heightened expression of the WNT10B proto-oncogene have been implicated in the development of human malignant breast tumors because they enhance the proliferation of mammary tissue. | 0.200549 | Elevated levels of estrogen and heightened expression of the <span class="gene" id="12437293-3-61-67">WNT10B</span> proto-oncogene have been implicated in the development of human malignant <span class="disease" id="12437293-3-142-155">breast tumors</span> because they enhance the proliferation of mammary tissue. | CTD_human |
6 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3553 | IL1B | IL-1 beta | CTD_human | 10,401,557 | The ODQ potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8. | 0.280275 | The ODQ potentiated <span class="disease" id="10401557-10-20-32">hyperalgesia</span> induced by carrageenan, bradykinin, TNF alpha, <span class="gene" id="10401557-10-80-89">IL-1 beta</span>, IL-6 and IL-8. | CTD_human |
1 | 0 | Biomarker | C0206637 | Chondrosarcoma, Mesenchymal | disease | MC | 5156 | PDGFRA | PDGFR-alpha | CTD_human | 12,817,616 | The results showed that malignant mesenchymal chondroblasts exhibit stronger expressions of CD99, IL-1alpha, cPKC-alpha, p-PKC-alpha/betaII, PDGFR-alpha, p-JNK, Ki-67, and bcl-2 antigens than their more mature-appearing chondrocytic counterparts in MC. | 0.2 | The results showed that malignant mesenchymal chondroblasts exhibit stronger expressions of CD99, IL-1alpha, cPKC-alpha, p-PKC-alpha/betaII, <span class="gene" id="12817616-4-141-152">PDGFR-alpha</span>, p-JNK, Ki-67, and bcl-2 antigens than their more mature-appearing chondrocytic counterparts in <span class="disease" id="12817616-4-249-251">MC</span>. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicities | 12355 | null | CAR | null | 28,187,946 | The inclusion of safety switches into the vector encoding the CAR is seen as the safest method to terminate the effects of CD19.CAR-Ts in case of severe toxicities or after achieving long-term sustained remissions. | null | null | null |
2 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | ASD | 85358 | SHANK3 | SHANK3 | CTD_human | 18,252,227 | Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. | 0.208517 | Notwithstanding complexities, our results further implicate the <span class="gene" id="18252227-8-64-70">SHANK3</span>-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in <span class="disease" id="18252227-8-236-239">ASD</span> susceptibility. | CTD_human |
1 | 0 | Biomarker | C0023470 | Myeloid Leukemia | disease | myeloid leukemias | 55904 | KMT2E | MLL5 | CTD_human | 18,854,576 | Human MLL5 is located on chromosome 7q22, which frequently is deleted in myeloid leukemias, suggesting a possible role in hemopoiesis. | 0.203008 | Human <span class="gene" id="18854576-2-6-10">MLL5</span> is located on chromosome 7q22, which frequently is deleted in <span class="disease" id="18854576-2-73-90">myeloid leukemias</span>, suggesting a possible role in hemopoiesis. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 21926 | null | TNF -a | null | 28,204,823 | We previously reported that p70 S6 kinase limits the tumor necrosis factor -a (TNF -a) -stimulated interleukin-6 (IL -6) synthesis in osteoblast -like MC3T3 -E1 cells. | null | null | null |
2 | 0 | Biomarker | C0085084 | Motor Neuron Disease | disease | motor neuron disease | 10908 | PNPLA6 | Neuropathy target esterase | CTD_human | 18,313,024 | Neuropathy target esterase gene mutations cause motor neuron disease. | 0.203832 | <span class="gene" id="18313024-0-0-26">Neuropathy target esterase</span> gene mutations cause <span class="disease" id="18313024-0-48-68">motor neuron disease</span>. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | OS | 5728 | null | PTEN | null | 28,022,876 | In pts with PIK3CA mutation and/or PTEN loss OS was shorter compared to wild-type cases (p=0.009). | null | null | null |
4 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 1636 | ACE | ACE | CTD_human | 9,916,793 | Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease. | 0.319446 | Variation in <span class="gene" id="9916793-0-13-17">DCP1</span>, encoding <span class="gene" id="9916793-0-28-31">ACE</span>, is associated with susceptibility to <span class="disease" id="9916793-0-70-87">Alzheimer disease</span>. | CTD_human |
2 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 27185 | DISC1 | DISC1 | CTD_human | 20,561,508 | Disruption of thermal nociceptive behaviour in mice mutant for the schizophrenia-associated genes NRG1, COMT and DISC1. | 0.463891 | Disruption of thermal nociceptive behaviour in mice mutant for the <span class="disease" id="20561508-0-67-80">schizophrenia</span>-associated genes NRG1, COMT and <span class="gene" id="20561508-0-113-118">DISC1</span>. | CTD_human |
1 | 1 | Biomarker | C1319853 | Asthma, Aspirin-Induced | disease | AIA | 3115 | HLA-DPB1 | DPB1 | CTD_human | 16,502,481 | An HLA study suggested that DPB1*0301 is a strong genetic marker for AIA, and that HLA DRB1*1302 and DQB1*0609 are markers for AIU susceptibility. | 0.200549 | An HLA study suggested that <span class="gene" id="16502481-5-28-32">DPB1</span>*0301 is a strong genetic marker for <span class="disease" id="16502481-5-69-72">AIA</span>, and that HLA DRB1*1302 and DQB1*0609 are markers for AIU susceptibility. | CTD_human |
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