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1 | 0 | Biomarker | C0027720 | Nephrosis | disease | nephrosis | 213 | ALB | albumin | CTD_human | 3,301,049 | Following stimulation of albumin synthesis by the induction of nephrosis, albumin mRNA was detected in the cytoplasm of the hepatocytes. | 0.200275 | Following stimulation of <span class="gene" id="3301049-8-25-32">albumin</span> synthesis by the induction of <span class="disease" id="3301049-8-63-72">nephrosis</span>, <span class="gene" id="3301049-8-74-81">albumin</span> mRNA was detected in the cytoplasm of the hepatocytes. | CTD_human |
1 | 0 | Biomarker | C0039685 | Tetralogy of Fallot | disease | TOF | 2303 | FOXC2 | FOXC2 | CTD_human | 25,093,829 | We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. | 0.4 | We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, <span class="gene" id="25093829-3-196-201">FOXC2</span>, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian <span class="disease" id="25093829-3-260-263">TOF</span> cases. | CTD_human;HPO |
null | null | Negative | MESH:C536648 | null | null | Pendred syndrome | 10804 | null | connexin 30 | null | 28,083,467 | Imaging studies, either CT temporal bones or MRI of the internal auditory canals without gadolinium, and genetic testing, in particular for connexin 26, connexin 30, and Pendred syndrome, are the most useful diagnostic tests. | null | null | null |
3 | 0 | Biomarker | C0030193 | Pain | phenotype | pain | 5443 | POMC | ACTH | CTD_human | 4,345,333 | Cortisol, growth hormone response, and pain following tetracosactrin depot and ACTH gel. | 0.202747 | Cortisol, growth hormone response, and <span class="disease" id="4345333-0-39-43">pain</span> following tetracosactrin depot and <span class="gene" id="4345333-0-79-83">ACTH</span> gel. | CTD_human |
3 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 7157 | TP53 | TP53 | CTD_human | 23,435,014 | While genetic changes in NSCLC are dominated by the effects of tobacco smoke, the increase of transversions in TP53 gene is consistent with a synergistic effect of asbestos. | 0.299582 | While genetic changes in <span class="disease" id="23435014-10-25-30">NSCLC</span> are dominated by the effects of tobacco smoke, the increase of transversions in <span class="gene" id="23435014-10-111-115">TP53</span> gene is consistent with a synergistic effect of asbestos. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24494 | null | IL-1b | null | 28,110,194 | The results demonstrated that compared to I/R group, TA reduced myocardial infarction area, declined serum creatinine kinase (CK), lactate dehydrogenase (LDH) levels, attenuated serum interleukin-6 (IL-6), IL-1b and tumour necrosis factor (TNF-a) production. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24494 | null | interleukin-1b | null | 28,092,336 | Compared with the control group, the experimental group showed more proinflammatory cytokines: interleukin-1b, interleukin-6, tumor necrosis factor-a, and macrophage migration inhibitory factor. | null | null | null |
1 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmune disease | 2833 | CXCR3 | CXCR3 | CTD_human | 12,517,959 | The CXCR3 chemokine receptor, a member of the CXCR family, has been linked to a pathological role in autoimmune disease, inflammatory disease, allograft rejection, and ischemia. | 0.201099 | The <span class="gene" id="12517959-1-4-9">CXCR3</span> chemokine receptor, a member of the CXCR family, has been linked to a pathological role in <span class="disease" id="12517959-1-101-119">autoimmune disease</span>, inflammatory disease, allograft rejection, and ischemia. | CTD_human |
null | null | Negative | MESH:C562591 | null | null | XPD | 6240 | null | RRM1 | null | 28,014,466 | ERCC1, RRM1 and XPD are involved in the NER pathway, and tumor upregulation of these genes can lead to chemotherapy failure. | null | null | null |
2 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 1543 | CYP1A1 | CYP1A1 | CTD_human | 20,634,294 | These results demonstrate that CYP1A1 is required for TCDD-induced cardiovascular superoxide anion production, endothelial dysfunction, and hypertension. | 0.204605 | These results demonstrate that <span class="gene" id="20634294-12-31-37">CYP1A1</span> is required for TCDD-induced cardiovascular superoxide anion production, endothelial dysfunction, and <span class="disease" id="20634294-12-140-152">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D008659 | null | null | metabolic syndrome | 71660 | null | chemerin | null | 28,029,186 | Considering that the association between metabolic syndrome and bone health remains unclear, the present study aimed to clarify the role of chemerin in the pathophysiology of bone loss induced by dyslipidemia, particularly modulating osteoclastogenesis. | null | null | null |
null | null | Negative | MESH:D002388 | null | null | catastrophic illness | 2571 | null | glutamic acid decarboxylase | null | 28,129,999 | Patients with type 1 diabetes (T1D), identified by glucagon C-peptide stimulation or glutamic acid decarboxylase (GAD) antibody blood tests and possession of a catastrophic illness certificate were excluded. | null | null | null |
1 | 0 | Biomarker | C0006413 | Burkitt Lymphoma | disease | Burkitt lymphomas | 6597 | SMARCA4 | SMARCA4 | CTD_human | 23,143,597 | We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4. | 0.200824 | We identified 70 genes that were recurrently mutated in <span class="disease" id="23143597-4-56-73">Burkitt lymphomas</span>, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and <span class="gene" id="23143597-4-142-149">SMARCA4</span>. | CTD_human |
3 | 0 | Biomarker | C0598608 | Hyperhomocysteinemia | disease | hyperhomocysteinemia | 875 | CBS | Cb | CTD_human | 19,204,075 | In humans, severe hyperhomocysteinemia due to genetic alterations in cystathionine beta-synthase (Cbs) or methylenetetrahydrofolate reductase (Mthfr) results in neurological abnormalities and premature death from vascular complications. | 0.229249 | In humans, severe <span class="disease" id="19204075-2-18-38">hyperhomocysteinemia</span> due to genetic alterations in <span class="gene" id="19204075-2-69-96">cystathionine beta-synthase</span> (<span class="gene" id="19204075-2-98-100">Cb</span>s) or methylenetetrahydrofolate reductase (Mthfr) results in neurological abnormalities and premature death from vascular complications. | CTD_human |
9 | 1 | Biomarker | C0001815 | Primary Myelofibrosis | disease | idiopathic myelofibrosis | 3717 | JAK2 | JAK2 | CTD_human | 15,781,101 | A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. | 0.381891 | A single point mutation (Val617Phe) was identified in <span class="gene" id="15781101-7-54-58">JAK2</span> in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with <span class="disease" id="15781101-7-186-210">idiopathic myelofibrosis</span>. | CTD_human |
2 | 4 | Biomarker | C0079584 | Ichthyosis Vulgaris | disease | ichthyosis vulgaris | 2312 | FLG | filaggrin | CTD_human | 17,417,636 | Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. | 0.234036 | Comprehensive analysis of the gene encoding <span class="gene" id="17417636-0-44-53">filaggrin</span> uncovers prevalent and rare mutations in <span class="disease" id="17417636-0-95-114">ichthyosis vulgaris</span> and atopic eczema. | CTD_human |
1 | 0 | Biomarker | C0027794 | Neural Tube Defects | group | NTD | 5697 | PYY | PYY | CTD_human | 17,400,914 | PYY Y1 receptor antagonist prevented the occurrence of NTD induced not only by PYY but also by vitamin A, a well-known teratogen in humans and animals. | 0.2 | <span class="gene" id="17400914-5-0-3">PYY</span> Y1 receptor antagonist prevented the occurrence of <span class="disease" id="17400914-5-55-58">NTD</span> induced not only by <span class="gene" id="17400914-5-79-82">PYY</span> but also by vitamin A, a well-known teratogen in humans and animals. | CTD_human |
1 | 0 | Biomarker | C0018133 | Graft-vs-Host Disease | disease | graft-versus-host disease | 4524 | MTHFR | methylenetetrahydrofolate reductase | CTD_human | 16,518,429 | Donor methylenetetrahydrofolate reductase genotype is associated with graft-versus-host disease in hematopoietic stem cell transplant patients treated with methotrexate. | 0.223088 | Donor <span class="gene" id="16518429-0-6-41">methylenetetrahydrofolate reductase</span> genotype is associated with <span class="disease" id="16518429-0-70-95">graft-versus-host disease</span> in hematopoietic stem cell transplant patients treated with methotrexate. | CTD_human |
17 | 15 | Biomarker | C0265216 | X-linked hydrocephalus syndrome | disease | X-linked hydrocephalus | 3897 | L1CAM | L1CAM | CTD_human | 7,920,659 | We have previously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. | 0.612088 | We have previously shown that <span class="disease" id="7920659-2-30-52">X-linked hydrocephalus</span> is caused by mutations in the gene for <span class="gene" id="7920659-2-92-124">neural cell adhesion molecule L1</span> (<span class="gene" id="7920659-2-126-131">L1CAM</span>), an axonal glycoprotein involved in neuronal migration and differentiation. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C536751 | null | null | WT-1 | 3855 | null | CK 7 | null | 28,021,228 | Immunohistochemistry (IHC) for all patients included a large range of markers - the most helpful in diagnosis were CK 7 (positive 46/72%), CK 20 (positive 33/51%), CDX-2 (positive 28, 44%), WT-1 (positive 9, 14%) and Calretinin (positive 2, 3%). | null | null | null |
4 | 1 | Biomarker | C0036341 | Schizophrenia | disease | SZ | 5649 | RELN | reelin | CTD_human | 19,110,320 | This remodeling might contribute to reelin- and GAD(67)-promoter demethylation and might reverse the GABAergic-gene-expression downregulation associated with SZ morbidity. | 0.328957 | This remodeling might contribute to <span class="gene" id="19110320-6-36-42">reelin</span>- and GAD(67)-promoter demethylation and might reverse the GABAergic-gene-expression downregulation associated with <span class="disease" id="19110320-6-158-160">SZ</span> morbidity. | CTD_human |
27 | 1 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 6622 | SNCA | synuclein (? | CTD_human | 21,245,015 | We created a two-hit [neuroinflammation and mutant ?-synuclein (?-syn) overexpression] animal model to investigate mechanisms through which mutant ?-syn and inflammation work in concert to mediate chronic PD neurodegeneration. | 0.44 | We created a two-hit [neuroinflammation and mutant α-<span class="gene" id="21245015-2-53-65">synuclein (α</span>-syn) overexpression] animal model to investigate mechanisms through which mutant α-syn and inflammation work in concert to mediate chronic <span class="disease" id="21245015-2-205-207">PD</span> neurodegeneration. | CTD_human |
1 | 0 | Biomarker | C0400966 | Non-alcoholic Fatty Liver Disease | disease | NAFLD | 9370 | ADIPOQ | Adiponectin | CTD_human | 20,415,685 | Adiponectin generally predicts steatosis grade and severity of NAFLD, but it remains to be addressed to what extent this is a direct effect or related to the presence of more severe IR. | 0.283297 | <span class="gene" id="20415685-7-0-11">Adiponectin</span> generally predicts steatosis grade and severity of <span class="disease" id="20415685-7-63-68">NAFLD</span>, but it remains to be addressed to what extent this is a direct effect or related to the presence of more severe IR. | CTD_human |
1 | 0 | Biomarker | C0011615 | Dermatitis, Atopic | disease | atopic dermatitis | 84433 | CARD11 | CARD11 | CTD_human | 23,042,114 | On the basis of data from a genome-wide association study (GWAS) and a validation study comprising a total of 3,328 subjects with atopic dermatitis and 14,992 controls in the Japanese population, we report here 8 new susceptibility loci: IL1RL1-IL18R1-IL18RAP (P(combined) = 8.36 × 10(-18)), the major histocompatibility complex (MHC) region (P = 8.38 × 10(-20)), OR10A3-NLRP10 (P = 1.54 × 10(-22)), GLB1 (P = 2.77 × 10(-16)), CCDC80 (P = 1.56 × 10(-19)), CARD11 (P = 7.83 × 10(-9)), ZNF365 (P = 5.85 × 10(-20)) and CYP24A1-PFDN4 (P = 1.65 × 10(-8)). | 0.2 | On the basis of data from a genome-wide association study (GWAS) and a validation study comprising a total of 3,328 subjects with <span class="disease" id="23042114-2-130-147">atopic dermatitis</span> and 14,992 controls in the Japanese population, we report here 8 new susceptibility loci: IL1RL1-IL18R1-IL18RAP (P(combined) = 8.36 × 10(-18)), the major histocompatibility complex (MHC) region (P = 8.38 × 10(-20)), OR10A3-NLRP10 (P = 1.54 × 10(-22)), GLB1 (P = 2.77 × 10(-16)), CCDC80 (P = 1.56 × 10(-19)), <span class="gene" id="23042114-2-456-462">CARD11</span> (P = 7.83 × 10(-9)), ZNF365 (P = 5.85 × 10(-20)) and CYP24A1-PFDN4 (P = 1.65 × 10(-8)). | CTD_human |
null | null | Negative | MESH:C536987 | null | null | MCC | 8379 | null | MAD1 | null | 28,102,834 | A marked acceleration in MAD2 conversion and MCC assembly was observed when monopolar spindle 1 (MPS1) kinase phosphorylated the MAD1-MAD2 complex, triggering it to act as the template for MAD2 conversion and therefore contributing to the establishment of a physical platform for MCC assembly. | null | null | null |
1 | 0 | Biomarker | C0008479 | Chondrosarcoma | disease | chondrosarcoma | 1280 | COL2A1 | COL2A1 | CTD_human | 23,770,606 | Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. | 0.200824 | Frequent mutation of the major <span class="gene" id="23770606-0-31-49">cartilage collagen</span> gene <span class="gene" id="23770606-0-55-61">COL2A1</span> in <span class="disease" id="23770606-0-65-79">chondrosarcoma</span>. | CTD_human |
2 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 383 | ARG1 | ARG1 | CTD_human | 19,281,908 | The association between ARG1 variation and asthma might depend on atopy and ambient ozone levels. | 0.210294 | The association between <span class="gene" id="19281908-11-24-28">ARG1</span> variation and <span class="disease" id="19281908-11-43-49">asthma</span> might depend on atopy and ambient ozone levels. | CTD_human |
null | null | Negative | MESH:C562645 | null | null | ALP | 13395 | null | distal-less homeobox 5 | null | 28,082,041 | Collectively, our findings indicate that curculactones A or B induced osteoblast differentiation through osteogenic expression of genes such as distal-less homeobox 5 (Dlx5), runt-related transcription factor 2 (Runx2), ALP, and osteocalcin (OC). | null | null | null |
null | null | Negative | MESH:C536915 | null | null | papillary thyroid carcinoma | 4684 | null | CD56 | null | 28,214,214 | AIM: To evaluate Cytokeratin 19 (CK19) and CD56 immunostains as useful diagnostic markers in distinguishing papillary thyroid carcinoma from other mimicking thyroid lesions. | null | null | null |
null | null | Negative | MESH:D008133 | null | null | SPS | 24261 | null | nAchR | null | 28,039,041 | In another experiment, we found that intrathecal injection of PHA-543613, a selective a7 nAchR agonist, attenuated the SPS-evoked allodynia in a dose dependent manner. | null | null | null |
4 | 12 | Biomarker | C0265325 | Turcot syndrome (disorder) | disease | childhood cancer syndrome | 5395 | PMS2 | PMS2 | CTD_human | 15,077,197 | Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. | 0.603846 | Novel <span class="gene" id="15077197-0-6-10">PMS2</span> pseudogenes can conceal recessive mutations causing a distinctive <span class="disease" id="15077197-0-77-102">childhood cancer syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 18,265,628 | High dose of erythropoietin in management of interferon/ribavirin induced anemia. | 0.24092 | High dose of <span class="gene" id="18265628-0-13-27">erythropoietin</span> in management of interferon/ribavirin induced <span class="disease" id="18265628-0-74-80">anemia</span>. | CTD_human |
null | null | Negative | MESH:D010190 | null | null | pancreatitis | 292808 | null | prolidase | null | 28,125,890 | This study was performed to determine if prolidase enzyme, which plays a role in collagen metabolism, could be used as a parameter to assess the severity of pancreatitis in experimentally induced mild and severe pancreatitis. | null | null | null |
null | null | Negative | MESH:D016393 | null | null | diffuse large B-cell lymphoma | 257144 | null | GCET2 | null | 28,056,299 | UNASSIGNED: Objective: To prepare a rabbit monoclonal antibody GCET2 and to investigate its diagnostic value in the workup of diffuse large B-cell lymphoma (DLBCL). | null | null | null |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 5080 | PAX6 | PAX6 | 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, HOXD12, HOXD13, p14ARF, <span class="gene" id="16778180-3-214-218">PAX6</span>, 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 |
2 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 16,813,604 | Genetic association between endothelial nitric oxide synthase and Alzheimer disease. | 0.236288 | Genetic association between <span class="gene" id="16813604-0-28-61">endothelial nitric oxide synthase</span> and <span class="disease" id="16813604-0-66-83">Alzheimer disease</span>. | CTD_human |
2 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 5265 | SERPINA1 | AAT | CTD_human | 17,659,342 | Proportion of reactive airway disease, obstructive pulmonary disease, and pre-existing anxiety disorder or bipolar disorder were significantly increased in persons carrying AAT non-M polymorphisms compared to normal MM genotype (respectively, 10, 20, 21, and 33% compared to 8, 12, 11, and 9%; contingency table, pulmonary: chi2 37, p=0.0001; affective disorder: chi2=171, p=0.0001). | 0.400824 | Proportion of reactive airway disease, obstructive pulmonary disease, and pre-existing anxiety disorder or <span class="disease" id="17659342-8-107-123">bipolar disorder</span> were significantly increased in persons carrying <span class="gene" id="17659342-8-173-176">AAT</span> non-M polymorphisms compared to normal MM genotype (respectively, 10, 20, 21, and 33% compared to 8, 12, 11, and 9%; contingency table, pulmonary: chi2 37, p=0.0001; affective disorder: chi2=171, p=0.0001). | CTD_human;PSYGENET |
null | null | Negative | MESH:D030342 | null | null | GaMD | 1131 | null | M3 muscarinic receptor | null | 28,034,310 | Further GaMD simulations have captured folding of the chignolin and binding of the acetylcholine (ACh) endogenous agonist to the M3 muscarinic receptor. | null | null | null |
null | null | Negative | MESH:D009410 | null | null | neuronal damage | 289623 | null | LIG | null | 28,169,530 | This study investigates the ability of intranasal Z-LIG pretreatment to enhance protection against neuronal damage in rats with middle cerebral artery occlusion (MCAO) and the role of cellular stress response mechanisms Nrf2 and HSP70. | null | null | null |
1 | 0 | Therapeutic | C0030567 | Parkinson Disease | disease | Parkinson's disease | 54541 | DDIT4 | RTP801 | CTD_human | 17,005,863 | RTP801 is elevated in Parkinson brain substantia nigral neurons and mediates death in cellular models of Parkinson's disease by a mechanism involving mammalian target of rapamycin inactivation. | 0.201099 | <span class="gene" id="17005863-0-0-6">RTP801</span> is elevated in Parkinson brain substantia nigral neurons and mediates death in cellular models of <span class="disease" id="17005863-0-105-124">Parkinson's disease</span> by a mechanism involving mammalian target of rapamycin inactivation. | CTD_human |
1 | 0 | Therapeutic | C0878544 | Cardiomyopathies | group | cardiomyopathy | 116 | ADCYAP1 | pituitary adenylate cyclase-activating polypeptide | CTD_human | 20,378,996 | Cardioprotective effect of endogenous pituitary adenylate cyclase-activating polypeptide on Doxorubicin-induced cardiomyopathy in mice. | 0.2 | Cardioprotective effect of endogenous <span class="gene" id="20378996-0-38-88">pituitary adenylate cyclase-activating polypeptide</span> on Doxorubicin-induced <span class="disease" id="20378996-0-112-126">cardiomyopathy</span> in mice. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | diabetes | 1401;718 | null | C-reactive protein, and complement C3 | null | 28,057,772 | Multivariate Cox regression models (adjusted for age, diabetes, sex, and duration of dialysis or fibrinogen, C-reactive protein, and complement C3) confirmed that denser clots are independently related to mortality risk. | null | null | null |
null | null | Negative | MESH:D020214 | null | null | brain injury | 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 |
null | null | Negative | MESH:D005891 | null | null | gingivitis | 5346 | null | peri | null | 28,033,066 | However, the literature suggests that differences exist in the microbial insult and inflammatory responses leading to gingivitis and peri-implant mucositis. | null | null | null |
null | null | Negative | MESH:D051556 | null | null | neonatal hyperbilirubinemia | 18671 | null | Abcb1a | null | 28,025,333 | However, their role in reducing the risk of developing neurological damage and death during neonatal development is still unknown.To this end, we mated Abcb1a/b(-/-) and Abcc1(-/-) strains with Ugt1(-/-) mice, which develop severe neonatal hyperbilirubinemia. | null | null | null |
6 | 0 | Biomarker | C0030193 | Pain | phenotype | pain | 3827 | KNG1 | BK | CTD_human | 1,281,941 | We also verified that L-NAME (50 mg/kg i.c.) reduced the BK-, but not the CAP- and/or RCM-induced pain responses which suggests that an L-arginine-derived NO or related compound is involved in BK activation of perivascular nociceptors.Indeed, we found that i.c. injection of 20 mg of S-nitrosocysteine, a putative EDRF, caused BK-like responses. | 0.202473 | We also verified that L-NAME (50 mg/kg i.c.) reduced the <span class="gene" id="1281941-5-57-59">BK</span>-, but not the CAP- and/or RCM-induced <span class="disease" id="1281941-5-98-102">pain</span> responses which suggests that an L-arginine-derived NO or related compound is involved in <span class="gene" id="1281941-5-193-195">BK</span> activation of perivascular nociceptors.Indeed, we found that i.c. injection of 20 mg of S-nitrosocysteine, a putative EDRF, caused <span class="gene" id="1281941-5-327-329">BK</span>-like responses. | CTD_human |
null | null | Negative | MESH:D011125 | null | null | adenomatous polyposis coli | 11789 | null | APC | null | 28,184,015 | In human colorectal cancers,<i>PIK3CA</i>mutations most commonly occur concomitantly with loss of adenomatous polyposis coli (APC). | null | null | null |
1 | 0 | Biomarker | C0023470 | Myeloid Leukemia | disease | myeloid leukaemia | 3066 | HDAC2 | histone deacetylase 2 | CTD_human | 21,535,412 | Further investigations revealed that knock-down of AGO2 by custom-made AGO2 siRNA in HEK-293 cells resulted in silencing of the expression of target genes vascular endothelial growth factor A and histone deacetylase 2, which are known to be involved in the development of myeloid leukaemia. | 0.200275 | Further investigations revealed that knock-down of AGO2 by custom-made AGO2 siRNA in HEK-293 cells resulted in silencing of the expression of target genes vascular endothelial growth factor A and <span class="gene" id="21535412-5-196-217">histone deacetylase 2</span>, which are known to be involved in the development of <span class="disease" id="21535412-5-272-289">myeloid leukaemia</span>. | CTD_human |
null | null | Negative | MESH:D006526 | null | null | HCV | 10411 | null | EpaC | null | 28,083,865 | EpaC wanted to provide a real number of diagnosed patients, eligible to new anti-HCV therapies. | null | null | null |
2 | 0 | Biomarker | C0041327 | Tuberculosis, Pulmonary | disease | pulmonary tuberculosis | 6347 | CCL2 | monocyte chemoattractant protein-1 | CTD_human | 16,352,737 | A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. | 0.216808 | A functional promoter polymorphism in <span class="gene" id="16352737-0-38-72">monocyte chemoattractant protein-1</span> is associated with increased susceptibility to <span class="disease" id="16352737-0-120-142">pulmonary tuberculosis</span>. | CTD_human |
null | null | Negative | MESH:D001927 | null | null | endometriosis-like lesions | 16193 | null | Il-6 | null | 28,138,997 | RESULTS: Lipopolysaccharide increased total number, size, and mRNA expression of Ptgs-2, Vegf, Ccl-2, and Il-6 in endometriosis-like lesions. | null | null | null |
1 | 0 | Therapeutic | C0027627 | Neoplasm Metastasis | phenotype | tumor metastasis | 3732 | CD82 | CD82 | CTD_human | 20,075,392 | CD82 is recognized as a wide-spectrum tumor metastasis suppressor that inhibits cancer cell motility and invasiveness. | 0.24909 | <span class="gene" id="20075392-1-0-4">CD82</span> is recognized as a wide-spectrum <span class="disease" id="20075392-1-38-54">tumor metastasis</span> suppressor that inhibits cancer cell motility and invasiveness. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | NE | 396349 | null | mitogen-activated protein kinase, kinase 2 | null | 28,111,433 | Overall, gga-miR-20b-5p was significantly downregulated in the NE-induced M5.1 chickens and this was associated with the upregulation of its top-ranking target gene, mitogen-activated protein kinase, kinase 2. | null | null | null |
null | null | Negative | MESH:D008171 | null | null | pulmonary vascular resistance | 19012 | null | mPAP | null | 28,090,291 | POPH cases were defined as a mean pulmonary arterial pressure (mPAP) >= 25 mmHg and pulmonary vascular resistance (PVR) >240 dynes s cm(-5). | null | null | null |
null | null | Negative | MESH:C566021 | null | null | TSC2 | 7248 | null | TSC1 | null | 28,178,598 | OBJECTIVE: The study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC). | null | null | null |
1 | 0 | Biomarker | C0010346 | Crohn Disease | disease | Crohn's disease | 3123 | HLA-DRB1 | HLA-DRB1 | CTD_human | 25,559,196 | To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. | 0.228857 | To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for <span class="gene" id="25559196-4-156-164">HLA-DRB1</span>*01:03 in both <span class="disease" id="25559196-4-179-194">Crohn's disease</span> and ulcerative colitis. | CTD_human |
null | null | Negative | MESH:D018149 | null | null | impaired insulin sensitivity and glucose tolerance | 11516 | null | PACAP | null | 28,044,141 | Feeding with high-fat diet (HFD) impaired insulin sensitivity and glucose tolerance in wild type mice, whereas these changes were prevented in PACAP null mice. | null | null | null |
7 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 3084 | NRG1 | NRG1 | CTD_human | 17,460,065 | Furthermore, we showed that NRG1+/- mutant mice display behavioral abnormalities that are reversed by clozapine, an atypical antipsychotic drug used for the treatment of schizophrenia. | 0.413846 | Furthermore, we showed that <span class="gene" id="17460065-2-28-32">NRG1</span>+/- mutant mice display behavioral abnormalities that are reversed by clozapine, an atypical antipsychotic drug used for the treatment of <span class="disease" id="17460065-2-170-183">schizophrenia</span>. | CTD_human |
null | null | Negative | MESH:D005334 | null | null | hyperthermia | 29184 | null | CD36 | null | 28,090,559 | The aims of the present study were to use a chronic exercise model (swimming for two consecutive hours per day, five days per wk for six wk) to increase FAT/CD36 expression in order to: 1) determine the contribution of FAT/CD36 in MDMA (20 mg/kg, s.c.)-mediated hyperthermia; and 2) examine the effects of the FAT/CD36 inhibitor, SSO (sulfo-N-succinimidyl oleate), on MDMA-induced hyperthermia in chronic exercise and sedentary control rats. | null | null | null |
2 | 0 | Biomarker | C0017658 | Glomerulonephritis | disease | glomerulonephritis | 133 | ADM | adrenomedullin | CTD_human | 15,063,164 | Mycophenolate mofetil prevents autoimmune glomerulonephritis and alterations of intrarenal adrenomedullin in rats. | 0.200275 | Mycophenolate mofetil prevents autoimmune <span class="disease" id="15063164-0-42-60">glomerulonephritis</span> and alterations of intrarenal <span class="gene" id="15063164-0-91-105">adrenomedullin</span> in rats. | CTD_human |
1 | 0 | Therapeutic | C0002622 | Amnesia | disease | memory loss | 2922 | GRP | gastrin-releasing peptide | CTD_human | 11,564,462 | Posttraining administration of gastrin-releasing peptide improves memory loss in scopolamine- and hypoxia-induced amnesic mice. | 0.2 | Posttraining administration of <span class="gene" id="11564462-0-31-56">gastrin-releasing peptide</span> improves <span class="disease" id="11564462-0-66-77">memory loss</span> in scopolamine- and hypoxia-induced amnesic mice. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | infectious diabetic wound | 22339 | null | VEGF | null | 28,125,663 | Interestingly, IL-22 treatment showed superior efficacy compared to PDGF or VEGF in an infectious diabetic wound model. | null | null | null |
null | null | Negative | MESH:D008659 | null | null | metabolic syndrome | 11450 | null | adiponectin | null | 28,188,344 | The hormone, adiponectin (ApN), which is decreased in the metabolic syndrome, exhibits anti-inflammatory properties on skeletal muscle and alleviates the dystrophic phenotype of mdx mice. | null | null | null |
null | null | Negative | MESH:D009765 | null | null | obesity | 11545 | null | Parp1 | null | 28,203,708 | DNA damage repair genes Prkdc, Parp1, and Rad51 mRNA were unaltered by obesity, however, Atm and Xrcc6 mRNA were increased (P < 0.05) while Brca1 was reduced (P < 0.05). | null | null | null |
1 | 1 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 400935 | IL17REL | IL17REL | CTD_human | 20,228,798 | Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). | 0.200275 | Genome-wide association study for <span class="disease" id="20228798-0-34-52">ulcerative colitis</span> identifies risk loci at 7q22 and 22q13 (<span class="gene" id="20228798-0-93-100">IL17REL</span>). | CTD_human |
null | null | Negative | MESH:C538175 | null | null | modified Rankin scale | 231004 | null | mRS | null | 28,104,836 | The optimal cut points for each assessment variable were then used in a backward logic regression to predict modified Rankin scale (mRS) score of 0 to 1 and 5 to 6. | null | null | null |
null | null | Negative | MESH:D018288 | null | null | SS | 542761 | null | Sh2 | null | 28,174,576 | "True" orthologs of maize Sh2 (AGPase LS) and Bt2 (AGPase SS) were identified in seven other monocots and three dicots; structure of the enzyme at protein level was also studied. | null | null | null |
null | null | Negative | MESH:C566847 | null | null | PKC | 5578 | null | protein kinase C alpha | null | 28,050,122 | CDECM also suppressed nuclear factor-kappa B (NF-kB) activation and the phosphorylation of p38 mitogen-activated protein kinase (MAPK), protein kinase C alpha (PKCa), and PKC . | null | null | null |
1 | 0 | Biomarker | C0014544 | Epilepsy | disease | epilepsy | 2316 | FLNA | FLN1 | CTD_human | 11,914,408 | Missense mutations and distal truncations consistent with partial loss of FLN1 function cause familial BPNH with the classical clinical phenotype including epilepsy and mild mental retardation, if any. | 0.401099 | Missense mutations and distal truncations consistent with partial loss of <span class="gene" id="11914408-9-74-78">FLN1</span> function cause familial BPNH with the classical clinical phenotype including <span class="disease" id="11914408-9-156-164">epilepsy</span> and mild mental retardation, if any. | CTD_human;HPO |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 5816 | PVALB | parvalbumin | CTD_human | 16,927,643 | Our study provides further evidence that CK7 and parvalbumin immunostains may be useful in differentiating oncocytoma from chromophobe RCC in problematic cases. | 0.201099 | Our study provides further evidence that CK7 and <span class="gene" id="16927643-11-49-60">parvalbumin</span> immunostains may be useful in differentiating oncocytoma from chromophobe <span class="disease" id="16927643-11-135-138">RCC</span> in problematic cases. | CTD_human |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 5245 | PHB | prohibitin | CTD_human | 21,472,284 | These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP)70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, ?-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, ?-1-antitrypsin and nm23-H1, may play a role in the development of HCC. | 0.201099 | These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP)70, HSP27, manganese superoxide dismutase, <span class="gene" id="21472284-9-142-152">prohibitin</span>, DJ1, α-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, α-1-antitrypsin and nm23-H1, may play a role in the development of <span class="disease" id="21472284-9-320-323">HCC</span>. | CTD_human |
1 | 0 | Therapeutic | C0853897 | Diabetic Cardiomyopathies | disease | diabetic cardiomyopathy | 335 | APOA1 | apolipoprotein A-I | CTD_human | 18,332,268 | Human apolipoprotein A-I gene transfer reduces the development of experimental diabetic cardiomyopathy. | 0.200275 | Human <span class="gene" id="18332268-0-6-24">apolipoprotein A-I</span> gene transfer reduces the development of experimental <span class="disease" id="18332268-0-79-102">diabetic cardiomyopathy</span>. | CTD_human |
1 | 0 | Biomarker | C0080178 | Spina Bifida | disease | spina bifida | 1072 | CFL1 | CFL1 | CTD_human | 17,352,815 | Association between CFL1 gene polymorphisms and spina bifida risk in a California population. | 0.203008 | Association between <span class="gene" id="17352815-0-20-24">CFL1</span> gene polymorphisms and <span class="disease" id="17352815-0-48-60">spina bifida</span> risk in a California population. | CTD_human |
2 | 0 | Biomarker | C0019569 | Hirschsprung Disease | disease | Hirschsprung disease | 2668 | GDNF | GDNF | CTD_human | 8,968,758 | De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. | 0.620929 | De novo mutation of <span class="gene" id="8968758-0-20-24">GDNF</span>, ligand for the RET/GDNFR-alpha receptor complex, in <span class="disease" id="8968758-0-78-98">Hirschsprung disease</span>. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D009369 | null | null | tumors | 12937 | null | CNR | null | 28,004,770 | Intraperitoneal ovarian tumors (Hey-A8 or OVCAR3) in mice enhanced on MR two days after intravenous DM-Dual Gd-ICG injection compared to controls (SNR, CNR, p < 0.05, n = 6). | null | null | null |
null | null | Negative | MESH:C536915 | null | null | papillary thyroid cancer | 8555 | null | CDC14B | null | 28,181,547 | We found a significant association between the localization of RET mutations and the expression of three genes: NNAT (suggested to be a tumour suppressor gene), CDC14B (involved in cell cycle control) and NTRK3 (tyrosine receptor kinase that undergoes rearrangement in papillary thyroid cancer). | null | null | null |
null | null | Negative | MESH:D010024 | null | null | osteoporosis | 29751 | null | semaphorin 3A | null | 28,135,705 | PURPOSE: Increasing evidence supported that semaphorin 3A (Sema3A), insulin-like growth factor (IGF)-1 and b-catenin were involved in the development of osteoporosis and diabetes. | null | null | null |
null | null | Negative | MESH:D004408 | null | null | dysgeusia | 2834 | null | Gr 2/3 | null | 28,022,657 | Other drug-related AEs include Gr 1/2 fatigue, nausea, vomiting, alopecia, diarrhea, mucositis and dysgeusia and Gr 2/3 anemia. | null | null | null |
null | null | Negative | MESH:D014085 | null | null | migration | 7040 | null | TGFb-1 | null | 28,181,132 | Furthermore, the restrained hUC-MSCs proliferation and migration induced by SB-431542 could be reversed by si-TGFb-1. | null | null | null |
17 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3827 | KNG1 | bradykinin | CTD_human | 3,061,568 | Characterization of the arachidonic acid metabolites mediating bradykinin and noradrenaline hyperalgesia. | 0.280824 | Characterization of the arachidonic acid metabolites mediating <span class="gene" id="3061568-0-63-73">bradykinin</span> and noradrenaline <span class="disease" id="3061568-0-92-104">hyperalgesia</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancers | 20674 | null | SOX2 | null | 28,077,873 | Using a mouse model of inducible SOX2, which is broadly expressed in oncogenic RAS-associated cancers, we show that despite widespread reductions in translation and protein synthesis, certain oncogenic mRNAs are spared. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 50557 | null | PTEN | null | 28,140,697 | In the present study, phosphatase and tensin homolog (PTEN) and tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) genes were loaded to zein nanoparticles (ZNPs). | null | null | null |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 2,822,310 | Effect of sodium depletion on pressor responsiveness in ACTH-induced hypertension in man. | 0.203846 | Effect of sodium depletion on pressor responsiveness in <span class="gene" id="2822310-0-56-60">ACTH</span>-induced <span class="disease" id="2822310-0-69-81">hypertension</span> in man. | CTD_human |
null | null | Negative | MESH:D011471 | null | null | PCa | 14056 | null | EZH2 | null | 28,184,935 | In this study, we found that histone methyltransferase enhancer of zeste homolog 2 (EZH2) dysregulated in PCa development regulated cellular growth and aerobic glycolysis through miR-181b/hexokinase 2 (HK2) axis. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 21943 | null | RANKL | null | 28,082,403 | In a preclinical mouse model of breast cancer, CCL21-mediated recruitment of ILC3 to tumors stimulated the production of the CXCL13 by TME stromal cells, which in turn promoted ILC3-stromal interactions and production of the cancer cell motile factor RANKL. | null | null | null |
1 | 0 | Biomarker | C0010674 | Cystic Fibrosis | disease | CF | 6340 | SCNN1G | SCNN1G | CTD_human | 16,463,024 | The finding that TNFRSF1A, SCNN1B and SCNN1G are clinically relevant modulators of CF disease supports current concepts that the depletion of airway surface liquid and inadequate host inflammatory responses trigger pulmonary disease in CF. | 0.211654 | The finding that TNFRSF1A, SCNN1B and <span class="gene" id="16463024-8-38-44">SCNN1G</span> are clinically relevant modulators of <span class="disease" id="16463024-8-83-85">CF</span> disease supports current concepts that the depletion of airway surface liquid and inadequate host inflammatory responses trigger pulmonary disease in <span class="disease" id="16463024-8-236-238">CF</span>. | CTD_human |
null | null | Negative | MESH:D000544 | null | null | AD | 19164 | null | PS1 | null | 28,189,498 | Here, we tested whether Bacillus Calmette-Gu rin (BCG) immunization alters AD pathology and cognitive dysfunction in APP/PS1 AD mouse model, and with 4Ab1-15 vaccination as positive control. | null | null | null |
null | null | Negative | MESH:D011507 | null | null | proteinuria | 60498 | null | IgAN | null | 28,057,871 | Results: In IgAN patients [male: 72%, age: 42 13 years, mean arterial pressure (MAP): 101 12 mmHg, proteinuria: 1.4 (0.7-2.3) g/day, estimated glomerular filtration rate (eGFR): 48 21 mL/min/1.73 m 2 ] median copeptin was 9.4 (5.3-18.4) pmol/L. | null | null | null |
4 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 7442 | TRPV1 | TRPV1 | CTD_human | 18,234,885 | Because TRPV1 and TRPA1 channels play important roles in controlling hyperalgesia in inflammatory pain models, we investigated their modulation by WIN and AM1241. | 0.289037 | Because <span class="gene" id="18234885-2-8-13">TRPV1</span> and TRPA1 channels play important roles in controlling <span class="disease" id="18234885-2-69-81">hyperalgesia</span> in inflammatory pain models, we investigated their modulation by WIN and AM1241. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicity | 28509 | null | DM1 | null | 28,140,802 | Patients (pts) received T-DM1 (3.6 mg/kg IV q3w) or X (1000 mg/m(2) PO bid, days 1-14 q3w) + L (1,250 mg PO daily) until progressive disease (PD) or unmanageable toxicity. | null | null | null |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 3570 | IL6R | IL-6R | CTD_human | 22,552,503 | Therefore, we suggest that IL-6R is both a viable target for the development of CSC-directed lung cancer therapeutics and a potential CSC marker in NSCLC. | 0.200275 | Therefore, we suggest that <span class="gene" id="22552503-12-27-32">IL-6R</span> is both a viable target for the development of CSC-directed lung cancer therapeutics and a potential CSC marker in <span class="disease" id="22552503-12-148-153">NSCLC</span>. | CTD_human |
1 | 0 | Therapeutic | C0079218 | Fibromatosis, Aggressive | disease | desmoid tumor | 7124 | TNF | TNF | CTD_human | 19,944,662 | Common peroneal nerve palsy following TNF-based isolated limb perfusion for irresectable extremity desmoid tumor. | 0.2 | Common peroneal nerve palsy following <span class="gene" id="19944662-0-38-41">TNF</span>-based isolated limb perfusion for irresectable extremity <span class="disease" id="19944662-0-99-112">desmoid tumor</span>. | CTD_human |
4 | 1 | Biomarker | C0043459 | Zellweger Syndrome | disease | Zellweger syndrome | 5192 | PEX10 | PEX10 | CTD_human | 9,683,594 | A Zellweger syndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open reading frame. | 0.400275 | A <span class="disease" id="9683594-5-2-20">Zellweger syndrome</span> patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the <span class="gene" id="9683594-5-144-149">PEX10</span> open reading frame. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 6573 | SLC19A1 | SLC19A1 | CTD_human | 21,760,912 | Expression of RFC/SLC19A1 is associated with tumor type in bladder cancer patients. | 0.200275 | Expression of <span class="gene" id="21760912-0-14-17">RFC</span>/<span class="gene" id="21760912-0-18-25">SLC19A1</span> is associated with tumor type in <span class="disease" id="21760912-0-59-73">bladder cancer</span> patients. | CTD_human |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 29221 | null | arginase 1 | null | 28,061,780 | METHODS: Sprague-Dawley (SD) rats were pretreated with or without RCE and then exposed to a simulated altitude of 8000 m in a hypobaric hypoxia chamber for 9 h. The expression of cardiac arginase 1 (Arg-1) and endothelial nitric oxide synthase (eNOS) and the activity of associated signaling pathways was examined. | null | null | null |
1 | 0 | Biomarker | C0026769 | Multiple Sclerosis | disease | multiple sclerosis | 3394 | IRF8 | IRF8 | CTD_human | 19,525,953 | Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. | 0.211826 | Meta-analysis of genome scans and replication identify CD6, <span class="gene" id="19525953-0-60-64">IRF8</span> and TNFRSF1A as new <span class="disease" id="19525953-0-85-103">multiple sclerosis</span> susceptibility loci. | CTD_human |
1 | 0 | Therapeutic | C0023418 | leukemia | disease | leukemia | 366 | AQP9 | AQP9 | CTD_human | 15,336,539 | Drug uptake and pharmacological modulation of drug sensitivity in leukemia by AQP9. | 0.200275 | Drug uptake and pharmacological modulation of drug sensitivity in <span class="disease" id="15336539-0-66-74">leukemia</span> by <span class="gene" id="15336539-0-78-82">AQP9</span>. | CTD_human |
null | null | Negative | MESH:C531816 | null | null | CD | 7040 | null | DPD1 | null | 28,014,652 | DNA was obtained from peripheral blood cells at baseline, and allelic discrimination assay with ABI Prism 7700 was used to analyze SNPs at CD Lys27Gln, DPD1 Arg16Cys and DPD2 Ile530Val. | null | null | null |
null | null | Negative | MESH:D015352 | null | null | dry eye | 65202 | 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 |
2 | 2 | Biomarker | C0152013 | Adenocarcinoma of lung (disorder) | disease | adenocarcinoma of the lung | 673 | BRAF | BRAF | CTD_human | 22,135,231 | We examined epidermal growth factor receptor (EGFR), Kirsten rate sarcoma viral oncogene homolog (KRAS), v-Raf murine sarcoma viral oncogene homolog B1 (BRAF), human epidermal growth factor receptor 2 (HER2), PIK3CA, v-akt murine thymoma vial oncogene homolog 1 (AKT1), v-ras neuroblastoma viral oncogene homolog (NRAS), dual specificity mitogen-activated protein kinase kinase 1 (MEK1), and anaplastic lymphoma kinase (ALK) in patients with adenocarcinoma of the lung to identify driver mutations. | 0.205495 | We examined epidermal growth factor receptor (EGFR), Kirsten rate sarcoma viral oncogene homolog (KRAS), <span class="gene" id="22135231-4-105-151">v-Raf murine sarcoma viral oncogene homolog B1</span> (<span class="gene" id="22135231-4-153-157">BRAF</span>), human epidermal growth factor receptor 2 (HER2), PIK3CA, v-akt murine thymoma vial oncogene homolog 1 (AKT1), v-ras neuroblastoma viral oncogene homolog (NRAS), dual specificity mitogen-activated protein kinase kinase 1 (MEK1), and anaplastic lymphoma kinase (ALK) in patients with <span class="disease" id="22135231-4-442-468">adenocarcinoma of the lung</span> to identify driver mutations. | CTD_human |
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