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1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 4139 | MARK1 | MARK1 | CTD_human | 18,492,799 | Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism. | 0.205689 | Convergent evidence identifying <span class="gene" id="18492799-0-32-76">MAP/microtubule affinity-regulating kinase 1</span> (<span class="gene" id="18492799-0-78-83">MARK1</span>) as a susceptibility gene for <span class="disease" id="18492799-0-114-120">autism</span>. | CTD_human |
null | null | Negative | MESH:D055113 | null | null | CP | 3586 | null | IL-10 | null | 28,099,577 | Significantly greater levels of IL-10 in GCF were verified in both SCP and CP groups (p<0.05). | null | null | null |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 15,851,630 | Cyclooxygenase-2 inhibitors attenuate angiotensin II-induced oxidative stress, hypertension, and cardiac hypertrophy in rats. | 0.52 | Cyclooxygenase-2 inhibitors attenuate <span class="gene" id="15851630-0-38-52">angiotensin II</span>-induced oxidative stress, <span class="disease" id="15851630-0-79-91">hypertension</span>, and cardiac hypertrophy in rats. | CTD_human |
null | null | Negative | MESH:D028361 | null | null | mitochondrial dysfunction | 24887 | null | Bax | null | 28,162,790 | An in vitro analysis with H9c2 cells exposed to redox-stress indicated that the transient over-expression of ErbB3 alone is able to increase cell survival (MTT assay), limiting mitochondrial dysfunction (JC-1 probe) and apoptotic signals (Bax/Bcl-2 ratio). | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | EPO | CTD_human | 7,529,132 | Intricate dose-response surfaces of the effects of the different treatments on colony-forming units-erythroid, reticulocytes, hematocrit, colony-forming units-granulocyte/macrophage, and absolute neutrophil count were obtained, which revealed that: (a) simultaneous EPO administration was able to maintain reticulocyte production and to protect mice from VP-16 induced anemia; (b) simultaneous G-CSF administration was able to maintain granulocyte production and to protect mice from VP-16 induced neutropenia; (c) VP-16 dose escalation was feasible when EPO or G-CSF were simultaneously administered; and (d) no increased myelotoxicity on erythroid or granuloid progenitors was observed when EPO or G-CSF was simultaneously administered with VP-16. | 0.24092 | Intricate dose-response surfaces of the effects of the different treatments on colony-forming units-erythroid, reticulocytes, hematocrit, colony-forming units-granulocyte/macrophage, and absolute neutrophil count were obtained, which revealed that: (a) simultaneous <span class="gene" id="7529132-4-266-269">EPO</span> administration was able to maintain reticulocyte production and to protect mice from VP-16 induced <span class="disease" id="7529132-4-369-375">anemia</span>; (b) simultaneous G-CSF administration was able to maintain granulocyte production and to protect mice from VP-16 induced neutropenia; (c) VP-16 dose escalation was feasible when <span class="gene" id="7529132-4-555-558">EPO</span> or G-CSF were simultaneously administered; and (d) no increased myelotoxicity on erythroid or granuloid progenitors was observed when <span class="gene" id="7529132-4-693-696">EPO</span> or G-CSF was simultaneously administered with VP-16. | CTD_human |
2 | 0 | Biomarker | C0878544 | Cardiomyopathies | group | cardiomyopathy | 6444 | SGCD | ?-sarcoglycan | CTD_human | 20,675,662 | Intolerance to ?-blockade in a mouse model of ?-sarcoglycan-deficient muscular dystrophy cardiomyopathy. | 0.202198 | Intolerance to ?-blockade in a mouse model of <span class="gene" id="20675662-0-46-59">δ-sarcoglycan</span>-deficient muscular dystrophy <span class="disease" id="20675662-0-89-103">cardiomyopathy</span>. | CTD_human |
null | null | Negative | MESH:D020521 | null | null | acute stroke | 100128998 | null | tissue plasminogen activator | null | 28,189,569 | OBJECTIVE: Our objective was to assess informed consent procedures for intravenous tissue plasminogen activator in acute stroke among New York State (NYS) Department of Health (DOH) designated stroke centers. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 689388 | null | Pentraxin-3 | null | 28,191,789 | RESULTS: Serum parameters indicating inflammation, serum tumor necrosis factoralpha, ischemia modified-albumin, IMA/albumin ratio and Pentraxin-3 levels, were observed to be high in the UPUO group and low in the UPUO/HBO treatment group. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 11687 | null | ALOX15 | null | 28,089,732 | ALOX15 expression is downregulated in colorectal cancer (CRC). | null | null | null |
null | null | Negative | MESH:D006526 | null | null | HCV infection | 678743 | null | TLL1 | null | 28,163,062 | CONCLUSIONS: In a GWAS, we identified the association between the SNP rs17047200, within the intron of TLL1, and development of HCC in patients who achieved an SVR to treatment for chronic HCV infection. | null | null | null |
4 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | MM | 8314 | BAP1 | BAP1 | CTD_human | 25,231,345 | Our data show that BAP1 mutations are very rare in patients with sporadic MM, and we report a new BAP1 mutation, extend the cancer types associated with these mutations, and suggest the existence of other yet unknown genes in the pathogenesis of familial MM. | 0.205495 | Our data show that <span class="gene" id="25231345-10-19-23">BAP1</span> mutations are very rare in patients with sporadic <span class="disease" id="25231345-10-74-76">MM</span>, and we report a new <span class="gene" id="25231345-10-98-102">BAP1</span> mutation, extend the cancer types associated with these mutations, and suggest the existence of other yet unknown genes in the pathogenesis of familial <span class="disease" id="25231345-10-255-257">MM</span>. | CTD_human |
1 | 0 | Biomarker | C0020502 | Hyperparathyroidism | disease | hyperparathyroidism | 595 | CCND1 | cyclin D1 | CTD_human | 21,541,686 | We previously reported the suppressive effect of cinacalcet on PTH secretion in vivo in a PHPT model mouse, in which parathyroid-targeted overexpression of the cyclin D1 oncogene caused chronic biochemical hyperparathyroidism and parathyroid cell hyperplasia. | 0.203832 | We previously reported the suppressive effect of cinacalcet on PTH secretion in vivo in a PHPT model mouse, in which parathyroid-targeted overexpression of the <span class="gene" id="21541686-2-160-169">cyclin D1</span> oncogene caused chronic biochemical <span class="disease" id="21541686-2-206-225">hyperparathyroidism</span> and parathyroid cell hyperplasia. | CTD_human |
1 | 0 | Biomarker | C0080178 | Spina Bifida | disease | spina bifida | 5130 | PCYT1A | PCYT1A | CTD_human | 17,184,542 | CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population. | 0.200275 | CHKA and <span class="gene" id="17184542-0-9-15">PCYT1A</span> gene polymorphisms, choline intake and <span class="disease" id="17184542-0-55-67">spina bifida</span> risk in a California population. | CTD_human |
1 | 0 | Therapeutic | C0026837 | Muscle Rigidity | phenotype | muscular rigidity | 4922 | NTS | neurotensin | CTD_human | 8,036,282 | Antagonization of fentanyl-induced muscular rigidity by neurotensin at the locus coeruleus of the rat. | 0.2 | Antagonization of fentanyl-induced <span class="disease" id="8036282-0-35-52">muscular rigidity</span> by <span class="gene" id="8036282-0-56-67">neurotensin</span> at the locus coeruleus of the rat. | CTD_human |
null | null | Negative | MESH:D020920 | null | null | hygienic | 80218 | null | San | null | 28,164,267 | This was compared against observed times dedicated to grooming, other hygienic behavior, and conversation among the Maya, Pum , San ma, Tsimane', Yanomam , and Ye'kwana (mean number of behavioral scans = 23,514). | null | null | null |
null | null | Negative | MESH:D008569 | null | null | memory damage | 116671 | null | P35 | null | 28,033,307 | However, VPA improved the memory damage caused by CSE in P35 rats. | null | null | null |
12 | 36 | Biomarker | C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | disease | CPVT | 6262 | RYR2 | RyR2 | CTD_human | 20,080,988 | Isolated murine ventricular myocytes harbouring a human RyR2 mutation (RyR2(R4496C+/-)) associated with CPVT were investigated in the absence and presence of 1 micromol/L JTV-519 (RyR2 stabilizer) followed by 100 micromol/L ouabain intervention to increase cytosolic [Na(+)] and SR Ca(2+) load. | 0.706099 | Isolated murine ventricular myocytes harbouring a human <span class="gene" id="20080988-4-56-60">RyR2</span> mutation (<span class="gene" id="20080988-4-71-75">RyR2</span>(R4496C+/-)) associated with <span class="disease" id="20080988-4-104-108">CPVT</span> were investigated in the absence and presence of 1 micromol/L JTV-519 (<span class="gene" id="20080988-4-180-184">RyR2</span> stabilizer) followed by 100 micromol/L ouabain intervention to increase cytosolic [Na(+)] and SR Ca(2+) load. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0948089 | Acute Coronary Syndrome | disease | ACS | 338382 | RAB7B | Ras-related protein Rab-7b | CTD_human | 21,751,358 | The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, ?-tubulin, ?-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients. | 0.2 | The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, β-tubulin, α-tubulin isotypes 1 and 2, vinculin, vimentin and two <span class="gene" id="21751358-4-152-178">Ras-related protein Rab-7b</span> isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from <span class="disease" id="21751358-4-492-495">ACS</span> patients compared to CAD patients. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 71648 | null | Optn | null | 28,192,730 | This study therefore provides novel information regarding the role of Optn during TCR activation, suggesting the possible importance of Optn during inflammation and/or autoimmune diseases. | null | null | null |
null | null | Negative | MESH:D010265 | null | null | monoclonal gammopathy | 100508689 | null | mucin | null | 28,099,617 | The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. | null | null | null |
null | null | Negative | MESH:D007029 | null | null | arcuate nucleus of the hypothalamus | 26119 | null | ARH | null | 28,063,803 | In the estradiol benzoate (EB) primed ovariectomized (OVX) rat, EB initially binds to ERa in the plasma membrane that complexes with and transactivates metabotropic glutamate receptor 1a to activate b-endorphin neurons in the arcuate nucleus of the hypothalamus (ARH) that project to the medial preoptic nucleus (MPN). | null | null | null |
3 | 0 | Biomarker | C0030193 | Pain | phenotype | pain | 5443 | POMC | beta-endorphin | CTD_human | 20,084,599 | The endogenous opioid beta-endorphin is a known indicator of stress and pain. | 0.202747 | The endogenous opioid <span class="gene" id="20084599-1-22-36">beta-endorphin</span> is a known indicator of stress and <span class="disease" id="20084599-1-72-76">pain</span>. | CTD_human |
null | null | Negative | MESH:D014615 | null | null | vaccinia | 354 | null | prostate specific antigen | null | 28,137,128 | Vaccines were consisted of recombinant vaccinia and recombinant fowlpox encoded with 3 human costimulatory molecules (TRICOM), and prostate specific antigen (PSA), or carcinoembryonic antigen, and/or mucin-1. | null | null | null |
null | null | Negative | MESH:D012421 | null | null | corneal rupture | 7276 | null | transthyretin | null | 28,081,655 | The patient was a 49-year-old woman with V30M transthyretin (TTR) variant (p.TTRV50M), who underwent ophthalmectomy due to corneal rupture 10 years after liver transplantation (LT). | null | null | null |
35 | 277 | Biomarker | C0035372 | Rett Syndrome | disease | Rett syndrome | 4204 | MECP2 | MECP2 | CTD_human | 22,343,140 | Rett syndrome is an X-linked ASD caused by mutations in the epigenetic factor methyl-CpG binding protein 2 (MECP2). | 0.92 | <span class="disease" id="22343140-4-0-13">Rett syndrome</span> is an X-linked ASD caused by mutations in the epigenetic factor <span class="gene" id="22343140-4-78-106">methyl-CpG binding protein 2</span> (<span class="gene" id="22343140-4-108-113">MECP2</span>). | CTD_human;ORPHANET;UNIPROT |
8 | 7 | Biomarker | C0016719 | Friedreich Ataxia | disease | Friedreich Ataxia | 2395 | FXN | frataxin | CTD_human | 12,923,074 | Friedreich Ataxia (FRDA), the most common inherited ataxia, arises from defective expression of the mitochondrial protein frataxin, which leads to increased mitochondrial oxidative damage. | 0.505379 | <span class="disease" id="12923074-1-0-17">Friedreich Ataxia</span> (FRDA), the most common inherited ataxia, arises from defective expression of the mitochondrial protein <span class="gene" id="12923074-1-122-130">frataxin</span>, which leads to increased mitochondrial oxidative damage. | CTD_human;ORPHANET |
2 | 0 | Biomarker | C1319853 | Asthma, Aspirin-Induced | disease | AIA | 57105 | CYSLTR2 | CYSLTR2 | CTD_human | 16,502,481 | Increased expression of CYSLTR1 with CYLSTR1 and CYSLTR2 polymorphisms are new findings in AIA, while the ALOX5 promoter polymorphism has been noted in AIU. | 0.200275 | Increased expression of CYSLTR1 with CYLSTR1 and <span class="gene" id="16502481-4-49-56">CYSLTR2</span> polymorphisms are new findings in <span class="disease" id="16502481-4-91-94">AIA</span>, while the ALOX5 promoter polymorphism has been noted in AIU. | CTD_human |
1 | 0 | Biomarker | C0206637 | Chondrosarcoma, Mesenchymal | disease | mesenchymal chondrosarcoma | 596 | BCL2 | bcl-2 | CTD_human | 12,817,616 | In conclusion, molecular profiling of mesenchymal chondrosarcoma using a proteomic approach characterized the mesenchymal chondroblasts as possessing pathways that incorporate PKC-alpha and PDGFR-alpha signaling and anti-apoptotic bcl-2 expression. | 0.2 | In conclusion, molecular profiling of <span class="disease" id="12817616-5-38-64">mesenchymal chondrosarcoma</span> using a proteomic approach characterized the mesenchymal chondroblasts as possessing pathways that incorporate PKC-alpha and PDGFR-alpha signaling and anti-apoptotic <span class="gene" id="12817616-5-231-236">bcl-2</span> expression. | CTD_human |
null | null | Negative | MESH:D020159 | null | null | Thymidylate synthase | 7372 | null | orotate phosphoribosyltransferase | null | 28,020,545 | UNASSIGNED: e15003 Background: Thymidylate synthase (TS), thymidine kinase (TK) and orotate phosphoribosyltransferase (OPRT) are the key enzymes in the de novo and salvage DNA synthetic process. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 21926 | null | tumor necrosis factor | null | 28,011,152 | CGS21680 inhibited NASH development in steatotic mice and decreased cytokines and chemokines involved in Th cell recruitment or polarization (namely CXCL10, CCL2, tumor necrosis factor alfa [TNFa], tumor growth factor [TGFb], and IL-12). | null | null | null |
2 | 0 | Biomarker | C0265221 | Walker-Warburg congenital muscular dystrophy | disease | Walker-Warburg syndrome | 729920 | ISPD | ISPD | CTD_human | 22,522,421 | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan. | 0.401099 | Mutations in <span class="gene" id="22522421-0-13-17">ISPD</span> cause <span class="disease" id="22522421-0-24-47">Walker-Warburg syndrome</span> and defective glycosylation of α-dystroglycan. | CTD_human;ORPHANET |
1 | 2 | Biomarker | C1855840 | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME | disease | Sanjad-Sakati syndrome | 6905 | TBCE | HRD | CTD_human | 12,389,028 | The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. | 0.401099 | The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (<span class="gene" id="12389028-1-114-117">HRD</span> or <span class="disease" id="12389028-1-121-143">Sanjad-Sakati syndrome</span>; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | SE | 3162 | HMOX1 | Hsp32 | CTD_human | 20,971,094 | Interestingly, while Hsp32 and Hsp70 expression was transient, Hsp25 demonstrated a sustained induction pattern, which may reflect an additional role of Hsp25 in subsequent remodeling events in the days following SE. | 0.2 | Interestingly, while <span class="gene" id="20971094-5-21-26">Hsp32</span> and Hsp70 expression was transient, Hsp25 demonstrated a sustained induction pattern, which may reflect an additional role of Hsp25 in subsequent remodeling events in the days following <span class="disease" id="20971094-5-213-215">SE</span>. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | diabetes | 12566 | null | cyclin-dependent kinase 2 | null | 28,100,774 | Here, we show that the cell cycle regulator, cyclin-dependent kinase 2 (CDK2), couples primary b-cell dysfunction to the progressive deterioration of b-cell mass in diabetes. | null | null | null |
1 | 0 | Biomarker | C0079744 | Diffuse Large B-Cell Lymphoma | disease | DLBCL | 5293 | PIK3CD | PI3K | CTD_human | 21,173,233 | These results demonstrate a critical function of PI3K-PDK1 signaling upstream of MALT1 protease and NF-?B in distinct ABC DLBCL cells and provide a rationale for the pharmacologic use of PI3K inhibitors in DLBCL therapy. | 0.204396 | These results demonstrate a critical function of <span class="gene" id="21173233-6-49-53">PI3K</span>-PDK1 signaling upstream of MALT1 protease and NF-κB in distinct ABC DLBCL cells and provide a rationale for the pharmacologic use of <span class="gene" id="21173233-6-187-191">PI3K</span> inhibitors in <span class="disease" id="21173233-6-206-211">DLBCL</span> therapy. | CTD_human |
null | null | Negative | MESH:D010195 | null | null | pancreatic beta cell hyperplasia | 105613195 | null | insulin | null | 28,144,955 | Hypothyroidism in the sheep fetus resulted in an asymmetric pattern of organ growth, pancreatic beta cell hyperplasia, and elevated plasma insulin and leptin concentrations. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 20848 | null | STAT3 | null | 28,022,063 | SCV-07-treatment of B16 bearing mice slowed tumor growth and significantly decreased the STAT3-induced cytokines MCP-1 and IL-12p40 which are implicated in immune pathology. | null | null | null |
null | null | Negative | OMIM:612348 | null | null | activation domain | 855505 | null | Rap1 | null | 28,196,871 | We used Rap1<sup>AS</sup>to map and characterize a 41-amino acid activation domain (AD) within the Rap1 C terminus. | null | null | null |
1 | 0 | Biomarker | C0037822 | Speech Disorders | group | speech impairment | 2903 | GRIN2A | GluN2A | CTD_human | 23,933,820 | Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor ?2 subunit, GluN2A). | 0.200275 | Here we demonstrate that about 20% of cases of <span class="gene" id="23933820-4-47-50">LKS</span>, CSWSS and electroclinically atypical rolandic epilepsy often associated with <span class="disease" id="23933820-4-129-146">speech impairment</span> can have a genetic origin sustained by de novo or inherited mutations in the <span class="gene" id="23933820-4-224-230">GRIN2A</span> gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, <span class="gene" id="23933820-4-309-315">GluN2A</span>). | CTD_human |
96 | 174 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson's disease | 540 | ATP7B | ATP7B | CTD_human | 12,820,478 | ATP7B mutation is well-known as a cause of Wilson's disease. | 0.885769 | <span class="gene" id="12820478-5-0-5">ATP7B</span> mutation is well-known as a cause of <span class="disease" id="12820478-5-43-59">Wilson's disease</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C1269683 | Major Depressive Disorder | disease | major depression | 3558 | IL2 | IL-2 | CTD_human | 12,635,532 | A reduction in NK-cell activity and DHEA levels, and an increase in IL-2 levels appear to be associated with major depression. | 0.200275 | A reduction in NK-cell activity and DHEA levels, and an increase in <span class="gene" id="12635532-7-68-72">IL-2</span> levels appear to be associated with <span class="disease" id="12635532-7-109-125">major depression</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 237052 | null | P21 | null | 28,134,936 | Higher tumor incidence was accompanied by reduced P21 and upregulated c-MYC expression in the tumors. | null | null | null |
1 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 11127 | KIF3A | KIF3A | CTD_human | 21,912,604 | The association between KIF3A rs7737031 and asthma was validated in 3 independent populations, further substantiating the validity of our gene selection approach. | 0.200549 | The association between <span class="gene" id="21912604-9-24-29">KIF3A</span> rs7737031 and <span class="disease" id="21912604-9-44-50">asthma</span> was validated in 3 independent populations, further substantiating the validity of our gene selection approach. | CTD_human |
null | null | Negative | MESH:D009062 | null | null | OIT | 15111 | null | Th2 | null | 28,107,533 | OIT significantly downregulated Th2 immune response-related gene expression in the FA mouse colon, and decreased the level of mouse mast cell protease-1, a marker of mast cell degranulation in the FA mouse plasma. | null | null | null |
null | null | Negative | MESH:D053632 | null | null | SCID | 14081 | null | FACS | null | 28,142,489 | Stromal pericytes from tumors and adipose tissue were FACS sorted, mixed with B16 cells at a 3:1 ratio, and injected into SCID mice. | null | null | null |
2 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 84648 | LCE3D | LCE3D | CTD_human | 24,212,883 | We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance. | 0.200275 | We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in <span class="gene" id="24212883-2-112-117">LCE3D</span>, ERAP1, CARD14 and ZNF816A associated with <span class="disease" id="24212883-2-161-170">psoriasis</span> at genome-wide significance. | CTD_human |
null | null | Negative | MESH:D056486 | null | null | hepatic necrosis | 235504 | null | AST | null | 28,152,447 | RESULTS: ASX pretreatment before APAP increased the 5-day survival rate in a dose-dependent manner and reduced the ALT, AST, hepatic necrosis, reactive oxygen species (ROS) generation, lipid peroxidation (LPO), oxidative stress and pro-inflammatory factors. | null | null | null |
1 | 0 | Biomarker | C0020619 | Hypogonadism | disease | hypogonadism | 55315 | SLC29A3 | SLC29A3 | CTD_human | 20,140,240 | Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. | 0.200275 | Recently germline mutations in <span class="gene" id="20140240-8-31-38">SLC29A3</span> were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and <span class="disease" id="20140240-8-280-292">hypogonadism</span>; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatoma | 1012 | CDH13 | T-cadherin | CTD_human | 18,425,332 | To provide a functional link between T-cadherin promoter methylation and T-cadherin growth regulation, we used the HepG2 hepatoma cell line that exhibits T-cadherin promoter methylation. | 0.209023 | To provide a functional link between <span class="gene" id="18425332-8-37-47">T-cadherin</span> promoter methylation and T-cadherin growth regulation, we used the HepG2 <span class="disease" id="18425332-8-121-129">hepatoma</span> cell line that exhibits <span class="gene" id="18425332-8-154-164">T-cadherin</span> promoter methylation. | CTD_human |
null | null | Negative | MESH:D004482 | null | null | MGS | 5697 | null | PYY | null | 28,106,168 | The pain-related behaviors induced by AITC were significantly exaggerated by PYY deletion, whereas the MGS readout and the referred hyperalgesia were not significantly affected. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast tumor | 667435 | null | BT-20 | null | 28,015,256 | METHODS: HT-29, LS174T, Moser (human colonic tumor lines), MCA38 and MCA38cea (murine colonic tumor lines), BT-20 (human breast tumor line) were grown in culture. | null | null | null |
null | null | Negative | MESH:D009133 | null | null | muscle atrophy | 102350883 | null | mstn | null | 28,184,997 | This study aimed to clone myostatin (mstn/Mstn), a factor associated with disuse muscle atrophy in mammals, from the skeletal muscle of the African lungfish Protopterus annectens, and to determine its mRNA expression level and protein abundance therein during the induction, maintenance, and arousal phases of aestivation. | null | null | null |
1 | 0 | Biomarker | C0013421 | Dystonia | phenotype | dystonia | 6342 | SCP2 | SCPx | CTD_human | 16,685,654 | Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. | 0.200275 | Mutations in the gene encoding peroxisomal <span class="gene" id="16685654-0-43-67">sterol carrier protein X</span> (<span class="gene" id="16685654-0-69-73">SCPx</span>) cause leukencephalopathy with <span class="disease" id="16685654-0-105-113">dystonia</span> and motor neuropathy. | CTD_human |
null | null | Negative | MESH:C531629 | null | null | GBS infection | 7040 | null | TGF-b | null | 28,147,379 | RESULTS: DSCs showed a significant increase in IL-6 (p < 0.05), TNF-a (p < 0.05), IL-10 (p < 0.01), and TGF-b (p < 0.05) secretion after GBS infection, while these changes were not observed in infected ESCs. | null | null | null |
34 | 131 | Biomarker | C0017921 | Glycogen storage disease type II | disease | GSD II | 2548 | GAA | GAA | CTD_human | 18,176,891 | Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1,4-glucosidase(GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25.2-q 25.3). | 0.55161 | <span class="disease" id="18176891-1-0-32">Glycogen storage disease type II</span> (<span class="disease" id="18176891-1-34-40">GSD II</span>) is an autosomal recessive deficiency of acidalpha-1,4-glucosidase(GAA) caused by mutations in the <span class="gene" id="18176891-1-140-143">GAA</span> gene located on human chromosome 17 (17q 25.2-q 25.3). | CTD_human;UNIPROT |
14 | 0 | Biomarker | C0018995 | Hemochromatosis | disease | hemochromatosis | 3077 | HFE | HFE | CTD_human | 23,705,020 | Both iron and manganese absorption are regulated by iron status, but the relationships between the transport pathways of these metals and how they are affected by HFE-associated hemochromatosis remain poorly understood. | 0.44 | Both iron and manganese absorption are regulated by iron status, but the relationships between the transport pathways of these metals and how they are affected by <span class="gene" id="23705020-2-163-166">HFE</span>-associated <span class="disease" id="23705020-2-178-193">hemochromatosis</span> remain poorly understood. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 24560 | null | CD200 | null | 28,164,283 | The expression of brain pro-inflammatory cytokines (i.e., tumor necrosis factor alpha, IL-1b) and CD200-CD200R1 signaling were measured by quantitative RT-PCR. | null | null | null |
null | null | Negative | MESH:D010146 | null | null | pain | 25439 | null | PAR1 | null | 28,059,686 | Intrathecal thrombin induced transient pain that was prevented by blocking spinal PAR1 before its injection. | null | null | null |
1 | 0 | Biomarker | C0030305 | Pancreatitis | disease | pancreatitis | 885 | CCK | cholecystokinin | CTD_human | 16,499,907 | Beneficial effect of resveratrol on cholecystokinin-induced experimental pancreatitis. | 0.200824 | Beneficial effect of resveratrol on <span class="gene" id="16499907-0-36-51">cholecystokinin</span>-induced experimental <span class="disease" id="16499907-0-73-85">pancreatitis</span>. | CTD_human |
2 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 999 | CDH1 | CDH1 | CTD_human | 26,901,067 | Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer. | 0.213078 | Frequent somatic <span class="gene" id="26901067-0-17-21">CDH1</span> loss-of-function mutations in plasmacytoid variant <span class="disease" id="26901067-0-73-87">bladder cancer</span>. | CTD_human |
null | null | Negative | MESH:D014390 | null | null | TB | 888895 | null | Rv0774c | null | 28,161,108 | Rv0774c was annotated as membrane exported hypothetical protein in TB database. | null | null | null |
null | null | Negative | MESH:C563365 | null | null | adenoma-carcinoma | 2475 | null | MTOR | null | 28,179,590 | Our WES data is largely matched with the earlier 'adenoma-carcinoma model' (APC, KRAS, NRAS and GNAS mutations), but there are newly identified SMAD4, MTOR, ACVR1B, GNAQ, ATM, CNOT1, EP300, ARID2, RET and MAP2K4 mutations in this study. | null | null | null |
null | null | Negative | MESH:D007319 | null | null | MCM | 853504 | null | Cdt1 | null | 28,191,894 | During G1 phase, two Cdt1-Mcm2-7 heptamers are loaded onto each replication origin by the origin-recognition complex (ORC) and Cdc6 to form an inactive MCM double hexamer (DH), but the detailed loading mechanism remains unclear. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 11622 | null | aryl hydrocarbon receptor | null | 28,113,104 | Tryptophan metabolites are recognized to function as endogenous ligands for aryl hydrocarbon receptor (Ahr), which is a critical regulator of inflammation and immunity. | null | null | null |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 2100 | ESR2 | estrogen receptor 2 | CTD_human | 17,625,110 | Promoter methylation regulates estrogen receptor 2 in human endometrium and endometriosis. | 0.229388 | Promoter methylation regulates <span class="gene" id="17625110-0-31-50">estrogen receptor 2</span> in human endometrium and <span class="disease" id="17625110-0-76-89">endometriosis</span>. | CTD_human |
14 | 1 | Biomarker | C0032463 | Polycythemia Vera | disease | polycythemia vera | 3717 | JAK2 | JAK2 | CTD_human | 19,287,384 | Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) is observed in most individuals with polycythemia vera, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events that contribute to the pathogenesis of these phenotypically distinct disorders. | 0.907397 | Given that the identical somatic activating mutation in the <span class="gene" id="19287384-2-60-64">JAK2</span> tyrosine kinase gene (<span class="gene" id="19287384-2-87-91">JAK2</span>(V617F)) is observed in most individuals with <span class="disease" id="19287384-2-137-154">polycythemia vera</span>, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events that contribute to the pathogenesis of these phenotypically distinct disorders. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D004194 | null | null | amelioration of disease | 2592 | null | GALT | null | 28,087,077 | While examining the therapeutic value of anti-CD52 antibody against EAE/MS, we identified a unique subset of CD39+ Tregs in repopulating GALT tissues, a major lymphoid reservoir, which was accompanied by amelioration of disease. | null | null | null |
1 | 0 | Biomarker | C0086543 | Cataract | disease | cataracts | 4284 | MIP | MIP | CTD_human | 10,802,646 | Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. | 0.403571 | Missense mutations in <span class="gene" id="10802646-0-22-25">MIP</span> underlie autosomal dominant 'polymorphic' and lamellar <span class="disease" id="10802646-0-81-90">cataracts</span> linked to 12q. | CTD_human;HPO |
1 | 0 | Biomarker | C0019337 | Heroin Dependence | disease | heroin addiction | 3952 | LEP | leptin | CTD_human | 15,717,844 | In conclusion, circulating concentrations of leptin, adiponectin and resistin are markedly altered in patients with chronic heroin addiction. | 0.2 | In conclusion, circulating concentrations of <span class="gene" id="15717844-6-45-51">leptin</span>, adiponectin and resistin are markedly altered in patients with chronic <span class="disease" id="15717844-6-124-140">heroin addiction</span>. | CTD_human |
1 | 0 | Biomarker | C0027726 | Nephrotic Syndrome | group | nephrotic syndrome | 2152 | F3 | tissue factor | CTD_human | 17,513,194 | Simvastatin inhibits tissue factor and plasminogen activator inhibitor-1 secretion by peripheral blood mononuclear cells in patients with primary nephrotic syndrome. | 0.202733 | Simvastatin inhibits <span class="gene" id="17513194-0-21-34">tissue factor</span> and plasminogen activator inhibitor-1 secretion by peripheral blood mononuclear cells in patients with primary <span class="disease" id="17513194-0-146-164">nephrotic syndrome</span>. | CTD_human |
null | null | Negative | MESH:D054058 | null | null | acute coronary syndrome | 84680 | null | NSTE-ACS | null | 28,191,514 | OBJECTIVE: To assess the anticoagulant therapy for non-ST-segment elevation acute coronary syndrome (NSTE-ACS) in China and to offer the rationale for establishing reasonable strategies to improve the prognosis of NSTE-ACS. | null | null | null |
1 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | ADHD | 6869 | TACR1 | TACR1 | CTD_human | 19,204,064 | NK1 (TACR1) receptor gene 'knockout' mouse phenotype predicts genetic association with ADHD. | 0.280549 | NK1 (<span class="gene" id="19204064-0-5-10">TACR1</span>) receptor gene 'knockout' mouse phenotype predicts genetic association with <span class="disease" id="19204064-0-87-91">ADHD</span>. | CTD_human |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 2557 | GABRA4 | GABRA4 | CTD_human | 16,080,114 | Through the convergence of all analyses, we conclude that GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. | 0.208045 | Through the convergence of all analyses, we conclude that <span class="gene" id="16080114-16-58-64">GABRA4</span> is involved in the etiology of <span class="disease" id="16080114-16-96-102">autism</span> and potentially increases <span class="disease" id="16080114-16-129-135">autism</span> risk through interaction with GABRB1. | CTD_human |
null | null | Negative | MESH:D053632 | null | null | SCID | 13649 | null | EGFR | null | 28,015,089 | METHODS: Human lung adenocarcinoma cells expressing EGFR and COX-2 (ATCC-CRL5908) were implanted in the left upper lobe of SCID mice (2*10(6) cells/25uL). | null | null | null |
1 | 0 | Biomarker | C0027404 | Narcolepsy | disease | narcolepsy | 3123 | HLA-DRB1 | DRB1 | CTD_human | 20,711,174 | To further define the genetic basis of narcolepsy risk, we performed a genome-wide association study (GWAS) in 562 European individuals with narcolepsy (cases) and 702 ethnically matched controls, with independent replication in 370 cases and 495 controls, all heterozygous for DRB1*1501-DQB1*0602. | 0.437489 | To further define the genetic basis of <span class="disease" id="20711174-3-39-49">narcolepsy</span> risk, we performed a genome-wide association study (GWAS) in 562 European individuals with <span class="disease" id="20711174-3-141-151">narcolepsy</span> (cases) and 702 ethnically matched controls, with independent replication in 370 cases and 495 controls, all heterozygous for <span class="gene" id="20711174-3-278-282">DRB1</span>*1501-DQB1*0602. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | disease | MCL | 1978 | EIF4EBP1 | eIF4E binding protein 1 | CTD_human | 17,148,679 | Total eIF4E binding protein 1 and eukaryotic initiation factor 4E were expressed in 13 of 14 (93%) and 16 of 29 (55%) MCL tumors, respectively. | 0.200824 | Total <span class="gene" id="17148679-9-6-29">eIF4E binding protein 1</span> and eukaryotic initiation factor 4E were expressed in 13 of 14 (93%) and 16 of 29 (55%) <span class="disease" id="17148679-9-118-121">MCL</span> tumors, respectively. | CTD_human |
null | null | Negative | MESH:D040181 | null | null | X-linked choroideremia | 1121 | null | CHM | null | 28,112,135 | PURPOSE: This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM). | null | null | null |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 10481 | HOXB13 | HOXB13 | CTD_human | 17,145,863 | Reexpression of either of two of the silenced genes, HOXB13 and SYK, resulted in reduced colony formation in vitro and diminished tumor formation in vivo, indicating that these genes function as tumor suppressors in melanoma. | 0.203008 | Reexpression of either of two of the silenced genes, <span class="gene" id="17145863-6-53-59">HOXB13</span> and SYK, resulted in reduced colony formation in vitro and diminished tumor formation in vivo, indicating that these genes function as tumor suppressors in <span class="disease" id="17145863-6-216-224">melanoma</span>. | CTD_human |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 2944 | GSTM1 | GSTM1 | CTD_human | 18,566,013 | In the largest RCC case-control study with genotype information conducted to date, we observed that risk associated with pesticide exposure was exclusive to individuals with active GSTM1/T1 genotypes. | 0.213474 | In the largest <span class="disease" id="18566013-9-15-18">RCC</span> case-control study with genotype information conducted to date, we observed that risk associated with pesticide exposure was exclusive to individuals with active <span class="gene" id="18566013-9-181-186">GSTM1</span>/T1 genotypes. | CTD_human |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 27232 | GNMT | GNMT | CTD_human | 19,146,867 | Therefore, GNMT is a tumor suppressor for HCC and it exerts protective effects in hepatocytes via direct interaction with AFB(1), resulting in reduced AFB(1)-DNA adducts formation and cell death. | 0.290136 | Therefore, <span class="gene" id="19146867-12-11-15">GNMT</span> is a tumor suppressor for <span class="disease" id="19146867-12-42-45">HCC</span> and it exerts protective effects in hepatocytes via direct interaction with AFB(1), resulting in reduced AFB(1)-DNA adducts formation and cell death. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 1012 | CDH13 | T-cadherin | CTD_human | 18,553,387 | Upon pharmacological treatment with demethylating agent 5-aza-2'-deoxycytidine or histone deacetylase inhibitor trichostatin A, T-cadherin promoter hypermethylation and/or histone deacetylation was frequently observed in HCC samples and cell lines. | 0.209023 | Upon pharmacological treatment with demethylating agent 5-aza-2'-deoxycytidine or histone deacetylase inhibitor trichostatin A, <span class="gene" id="18553387-7-128-138">T-cadherin</span> promoter hypermethylation and/or histone deacetylation was frequently observed in <span class="disease" id="18553387-7-221-224">HCC</span> samples and cell lines. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicity | 12367 | null | caspase-3 | null | 28,106,099 | In addition, nesfatin-1 antagonized 1-methyl-4-phenylpyridillium ion (MPP(+))-induced toxicity by restoring mitochondrial function, inhibiting cytochrome C release and preventing caspase-3 activation in MPP(+)-treated MES23.5 dopaminergic cells. | null | null | null |
1 | 0 | Biomarker | C0014859 | Esophageal Neoplasms | group | esophageal cancer | 406937 | MIR145 | miR-145 | CTD_human | 21,248,297 | Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e.g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR. | 0.201099 | Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with <span class="disease" id="21248297-2-79-96">esophageal cancer</span> who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e.g., let-7a, let-7g, miR-21, miR-134, <span class="gene" id="21248297-2-324-331">miR-145</span>, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | facial disorders | 1482 | null | Nkx2.5 | null | 28,109,039 | These studies illustrate a new function for Nkx2.5 in embryonic development and provide new avenues with which to pursue potential mechanisms underlying human facial disorders. | null | null | null |
null | null | Negative | MESH:D020522 | null | null | mantle cell lymphoma | 328483 | null | TCR | null | 28,053,195 | TCR-transduced T cells efficiently lysed primary B-cell leukemia, mantle cell lymphoma, and multiple myeloma in vitro. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 56221 | null | CCL24 | null | 28,042,950 | CCL24 was injected to nude mice to monitor tumor formation and pulmonary metastasis; qRT-PCR, western blot and Immunohistochemistry were used to explore potential mechanism. | null | null | null |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 4909 | NTF4 | neurotrophin 4 | CTD_human | 11,357,950 | In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). | 0.202407 | In archived neonatal blood of children with <span class="disease" id="11357950-2-44-52">autistic</span> spectrum disorders (n = 69), mental retardation without <span class="disease" id="11357950-2-109-115">autism</span> (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and <span class="gene" id="11357950-2-540-554">neurotrophin 4</span>/5 (NT4/5). | CTD_human |
null | null | Negative | MESH:D015352 | null | null | dry eye | 100508689 | null | mucin | null | 28,009,531 | PURPOSE: We examined the wound-healing effect of retinol palmitate (VApal) on mucin gene and protein expressions in a rat dry eye model based on lacrimal gland (LG) resection after injury. | null | null | null |
null | null | Negative | MESH:C567703 | null | null | Rat Intestinal Epithelial | 1591 | null | CYP24A1 | null | 28,104,492 | Young Adult Mouse Colon (YAMC) and Rat Intestinal Epithelial (RIE) cell lines with stable expression of mutant H-RAS had suppressed 1,25(OH)2D-mediated induction of CYP24A1 mRNA. | null | null | null |
null | null | Negative | MESH:C567932 | null | null | OS | 3479 | null | IGF-I | null | 28,020,518 | IGF-1R staining was evaluated by immunohistochemistry (IHC), and serum free IGF-I, total IGF-II and IGFBP-1 and -3 were measured by ELISA (Beckman Coulter/DSL) at baseline, and studied for correlation with PFS, OS, and stable disease (SD). | null | null | null |
null | null | Negative | MESH:D013736 | null | null | testis | 2746 | null | hGDH1 | null | 28,208,702 | hGDH2 is co-expressed with hGDH1 in human brain, kidney, testis and steroidogenic organs, but not in the liver. | null | null | null |
null | null | Negative | MESH:D020521 | null | null | acute ischemic stroke | 100128998 | null | tissue plasminogen activator | null | 28,053,009 | OBJECTIVE: To explore rural-urban differences and trends in tissue plasminogen activator (tPA) utilization among acute ischemic stroke (AIS) patients and examine the association between primary stroke center (PSC) growth and geographic disparity in tPA use. | null | null | null |
1 | 0 | Biomarker | C0008370 | Cholestasis | disease | cholestasis | 1593 | CYP27A1 | sterol 27-hydroxylase | CTD_human | 15,795,599 | Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. | 0.200275 | Mutation in the <span class="gene" id="15795599-0-16-37">sterol 27-hydroxylase</span> gene associated with fatal <span class="disease" id="15795599-0-65-76">cholestasis</span> in infancy. | CTD_human |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 7040;7422 | null | TGF-Beta Signalling and VEGF | null | 28,028,298 | Analysis on the microRNA target genes revealed that most genes targeted by miR-19b and miR-20a involve in TGF-Beta Signalling and VEGF, hypoxia and angiogenesis pathways. | null | null | null |
null | null | Negative | MESH:D007951 | null | null | Myeloid differentiation 2 | 29260 | null | TLR4 | null | 28,013,347 | Myeloid differentiation 2 (MD2), a molecule that physically binds to TLR4, confers lipopolysaccharide responsiveness and may also be involved in mediating the actions of Ang II. | null | null | null |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 448830 | null | MD2 | null | 28,013,347 | Using a specific small molecule MD2 blocker L6H21 and the MD2 knockout mice, we show that MD2 deficiency significantly reduces cardiac inflammation and subsequent fibrosis, hypertrophy, and dysfunction in mice challenged with subcutaneous injection of Ang II. | null | null | null |
null | null | Negative | MESH:D007238 | null | null | infarct | 83810 | null | TRPV1 | null | 28,199,737 | Then, infarct volume, brain edema, body temperature, mRNA expression of TRPV1, and serum concentrations of tumor necrosis factor-alpha (TNF-a) and IL-10 were measured. | null | null | null |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | Erythropoietin | CTD_human | 11,245,434 | Erythropoietin restores the anemia-induced reduction in cyclophosphamide cytotoxicity in rat tumors. | 0.24092 | <span class="gene" id="11245434-0-0-14">Erythropoietin</span> restores the <span class="disease" id="11245434-0-28-34">anemia</span>-induced reduction in cyclophosphamide cytotoxicity in rat tumors. | CTD_human |
null | null | Negative | MESH:D017728 | null | null | ALCL | 2526 | null | CD15 | null | 28,013,563 | We report a rare case of ALK-negative ALCL, which was positive for PAX-5 and CD15, mimicking CHL by immunohistochemistry, resulting in a diagnostic dilemma. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | overall survival | 1493 | null | CTLA-4 | null | 28,021,003 | The primary end point was overall survival (OS) defined as the time from the 1(st) anti-CTLA-4 treatment to the last contact or death. | null | null | null |