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null | null | Negative | MESH:D010190 | null | null | pancreatic islet tumors | 678640 | null | EGFL7 | null | 28,022,950 | Anti-EGFL7 prolongs survival of mice bearing invasive pancreatic islet tumors driven by the large T antigen, and reduces vascular density and perfusion in the tumors. | null | null | null |
3 | 0 | Therapeutic | C0036572 | Seizures | phenotype | seizure | 3350 | HTR1A | 5-HT(1A | CTD_human | 12,646,302 | Taken together, these results suggest that 5-HT(1A) receptor activation is a critical step in the activation of seizure-induced cell proliferation and survival in the dentate gyrus, however, not for the onset of spontaneously recurrent seizures and MFS. | 0.2 | Taken together, these results suggest that <span class="gene" id="12646302-8-43-50">5-HT(1A</span>) receptor activation is a critical step in the activation of <span class="disease" id="12646302-8-112-119">seizure</span>-induced cell proliferation and survival in the dentate gyrus, however, not for the onset of spontaneously recurrent seizures and MFS. | CTD_human |
null | null | Negative | MESH:D018288 | null | null | SCLC | 4807 | null | NSCL | null | 28,015,667 | RESULTS: Twelve pts are evaluabe for toxicity (7/5 M/F; median age 57; 3 NSCL; 2 pancreatic carcinoma; and 1 each SCLC, gastric, anal, unknown, H _ ENT, colon, and esophageal carcinomas; 10 pre-treated). | null | null | null |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | U87MG | 4318 | MMP9 | MMP-9 | CTD_human | 16,598,420 | Our results also show that treatment of U87MG cells with the two isoflavones induced decreases in the enzymatic activity of MMP-9 and the protein levels of MT1-MMP and uPAR. | 0.218624 | Our results also show that treatment of <span class="disease" id="16598420-9-40-45">U87MG</span> cells with the two isoflavones induced decreases in the enzymatic activity of <span class="gene" id="16598420-9-124-129">MMP-9</span> and the protein levels of MT1-MMP and uPAR. | CTD_human |
1 | 0 | Therapeutic | C0015695 | Fatty Liver | disease | hepatic steatosis | 412 | STS | STS | CTD_human | 24,497,646 | In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation. | 0.2 | In defining the functional relevance of <span class="gene" id="24497646-3-40-43">STS</span> induction in metabolic disease, we showed that overexpression of <span class="gene" id="24497646-3-109-112">STS</span> in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased <span class="disease" id="24497646-3-284-301">hepatic steatosis</span> and inflammation. | CTD_human |
2 | 0 | Biomarker | C0029422 | Osteochondrodysplasias | group | skeletal dysplasia | 3339 | HSPG2 | Hspg2 | CTD_human | 10,545,953 | The remaining Hspg2-/- mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities. | 0.403008 | The remaining <span class="gene" id="10545953-5-14-19">Hspg2</span>-/- mice died just after birth with <span class="disease" id="10545953-5-55-73">skeletal dysplasia</span> characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities. | CTD_human;HPO |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 6513 | SLC2A1 | GLUT 1 | CTD_human | 8,364,915 | Seven of 12 HCC contained many microvessels intensely stained for GLUT 1, a phenomenon never observed in normal liver. | 0.205205 | Seven of 12 <span class="disease" id="8364915-13-12-15">HCC</span> contained many microvessels intensely stained for <span class="gene" id="8364915-13-66-72">GLUT 1</span>, a phenomenon never observed in normal liver. | CTD_human |
null | null | Negative | MESH:D017695 | null | null | TMA | 7113 | null | TMPRSS2 | null | 28,023,903 | Concordance between the ERG IHC and TMPRSS2 FISH in this multi-sampled TMA was 71%. | null | null | null |
null | null | Negative | MESH:D009765 | null | null | obesity | 100035194 | null | Pbwg1.5 | null | 28,114,323 | Pbwg1.5, a quantitative trait locus (QTL) for resistance to obesity, was previously discovered from wild Mus musculus castaneus mice and was fine-mapped to a 2.1-Mb genomic region of mouse chromosome 2, where no known gene with an effect on white adipose tissue (WAT) has been reported. | null | null | null |
2 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 3107 | HLA-C | HLA-C | CTD_human | 20,953,190 | A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. | 0.34086 | A genome-wide association study identifies new <span class="disease" id="20953190-0-47-56">psoriasis</span> susceptibility loci and an interaction between <span class="gene" id="20953190-0-104-109">HLA-C</span> and ERAP1. | CTD_human |
2 | 3 | Biomarker | C0023434 | Chronic Lymphocytic Leukemia | disease | CLL | 596 | BCL2 | Bcl-2 | CTD_human | 21,750,559 | Resistance to therapy in CLL depends on the expression and activity of anti-apoptotic proteins of the Bcl-2 family. | 0.262189 | Resistance to therapy in <span class="disease" id="21750559-3-25-28">CLL</span> depends on the expression and activity of anti-apoptotic proteins of the <span class="gene" id="21750559-3-102-107">Bcl-2</span> family. | CTD_human |
6 | 2 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 169026 | SLC30A8 | SLC30A8 | CTD_human | 24,584,071 | Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. | 0.301703 | Loss-of-function mutations in <span class="gene" id="24584071-0-30-37">SLC30A8</span> protect against <span class="disease" id="24584071-0-54-69">type 2 diabetes</span>. | CTD_human |
4 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 26047 | CNTNAP2 | CNTNAP2 | CTD_human | 20,157,312 | At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. | 0.304644 | At a gene level, CAM genes associated in all three samples (NRXN1 and <span class="gene" id="20157312-8-70-77">CNTNAP2</span>), which were previously implicated in specific language disorder, <span class="disease" id="20157312-8-144-150">autism</span> and schizophrenia. | CTD_human |
1 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | pulmonary fibrosis | 6351 | CCL4 | MIP-1 beta | CTD_human | 17,720,292 | Elevated levels of MCP-1, MIP-alpha and MIP-1 beta in the bronchoalveolar lavage (BAL) fluid of patients with mustard gas-induced pulmonary fibrosis. | 0.200275 | Elevated levels of MCP-1, MIP-alpha and <span class="gene" id="17720292-0-40-50">MIP-1 beta</span> in the bronchoalveolar lavage (BAL) fluid of patients with mustard gas-induced <span class="disease" id="17720292-0-130-148">pulmonary fibrosis</span>. | CTD_human |
1 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | ESRD | 51094 | ADIPOR1 | Adiponectin receptor-1 | CTD_human | 19,539,174 | Adiponectin receptor-1 and monocyte chemoattractant protein-1 mRNA expressions were significantly higher in visceral but not in subcutaneous adipose tissue of the ESRD group. | 0.280824 | <span class="gene" id="19539174-9-0-22">Adiponectin receptor-1</span> and monocyte chemoattractant protein-1 mRNA expressions were significantly higher in visceral but not in subcutaneous adipose tissue of the <span class="disease" id="19539174-9-163-167">ESRD</span> group. | CTD_human |
null | null | Negative | MESH:D015179 | null | null | CRC | 693198 | null | miR-613 | null | 28,078,018 | However, the precise role of miR-613 in CRC progression is unclear. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxic | 18613 | null | PECAM | null | 28,065,731 | NCs targeting the epitope PECAM strongly accumulated in the lungs, but were shunted away from inflamed lung regions due to hypoxic vasoconstriction (HVC). | null | null | null |
2 | 25 | Biomarker | C0221757 | alpha 1-Antitrypsin Deficiency | disease | Alpha 1-antitrypsin deficiency | 5265 | SERPINA1 | alpha 1-antitrypsin | CTD_human | 3,485,249 | Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes. | 0.482141 | <span class="disease" id="3485249-0-0-30">Alpha 1-antitrypsin deficiency</span> and emphysema caused by homozygous inheritance of non-expressing <span class="gene" id="3485249-0-96-115">alpha 1-antitrypsin</span> genes. | CTD_human;ORPHANET |
null | null | Negative | MESH:D006332 | null | null | cardiac hypertrophy | 100313996 | null | miR-10a | null | 28,100,873 | Our study aimed to investigate the role of miR-10a in cardiac hypertrophy development and the underlying regulatory mechanism.Transverse abdominal aortic constriction (TAAC) surgery was performed to establish a cardiac hypertrophy rat model, and angiotensin II (AngII) was used to induce cardiac hypertrophy in cultured neonatal rat cardiomyocytes. | null | null | null |
1 | 0 | Biomarker | C0023290 | Leishmaniasis, Visceral | disease | visceral leishmaniasis | 3117 | HLA-DQA1 | HLA-DQA1 | CTD_human | 23,291,585 | Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. | 0.200275 | Common variants in the HLA-DRB1-<span class="gene" id="23291585-0-32-40">HLA-DQA1</span> HLA class II region are associated with susceptibility to <span class="disease" id="23291585-0-99-121">visceral leishmaniasis</span>. | CTD_human |
null | null | Negative | OMIM:188890 | null | null | CSE | 20309 | null | interleukin 8 | null | 28,185,985 | In vitro results indicated that ATF3 inhibition significantly increased the expression of proinflammatory cytokines interleukin 6 (IL6) and interleukin 8 (IL8) in CSE-stimulated HBE cells. | null | null | null |
8 | 2 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 775 | CACNA1C | CACNA1C | CTD_human | 21,926,972 | Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4. | 0.425013 | Finally, a combined GWAS analysis of schizophrenia and <span class="disease" id="21926972-5-55-71">bipolar disorder</span> yielded strong association evidence for SNPs in <span class="gene" id="21926972-5-120-127">CACNA1C</span> and in the region of NEK4-ITIH1-ITIH3-ITIH4. | CTD_human;PSYGENET |
1 | 0 | Biomarker | C1336708 | Testicular Germ Cell Tumor | disease | TGCT | 55159 | RFWD3 | RFWD3 | CTD_human | 23,666,239 | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.200275 | In the combined analysis, risk of <span class="disease" id="23666239-4-34-38">TGCT</span> was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in <span class="gene" id="23666239-4-311-316">RFWD3</span> (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | CTD_human |
null | null | Negative | MESH:C538037 | null | null | Kr ppel-like factor 15 | 85497 | null | KLF15 | null | 28,064,408 | The expression and signaling of Kr ppel-like factor 15 (KLF15) were determined by immunoblot and qPCR analyses, respectively. | null | null | null |
1 | 3 | Biomarker | C0206368 | Exfoliation Syndrome | disease | XFS | 4016 | LOXL1 | LOXL1 | CTD_human | 25,706,626 | Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease. | 0.297555 | Our findings represent the first genetic locus outside of <span class="gene" id="25706626-5-58-63">LOXL1</span> surpassing genome-wide significance for <span class="disease" id="25706626-5-104-107">XFS</span> and provide insight into the biology and pathogenesis of the disease. | CTD_human |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | dTGR | CTD_human | 20,429,690 | Untreated dTGR developed severe hypertension as well as cardiac hypertrophy, and showed pronounced cardiovascular mortality compared with normotensive SD rats. | 0.52 | Untreated <span class="gene" id="20429690-6-10-14">dTGR</span> developed severe <span class="disease" id="20429690-6-32-44">hypertension</span> as well as cardiac hypertrophy, and showed pronounced cardiovascular mortality compared with normotensive SD rats. | CTD_human |
2 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 1869 | E2F1 | E2F1 | CTD_human | 15,574,415 | Eugenol causes melanoma growth suppression through inhibition of E2F1 transcriptional activity. | 0.213144 | Eugenol causes <span class="disease" id="15574415-0-15-23">melanoma</span> growth suppression through inhibition of <span class="gene" id="15574415-0-65-69">E2F1</span> transcriptional activity. | CTD_human |
28 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 238 | ALK | ALK | CTD_human | 23,686,600 | Crizotinib appears to be efficacious and well tolerated in patients with NSCLC and may have future potential applications in treating lymphomas and other cancers driven by ALK or c-MET gene mutations. | 0.28 | Crizotinib appears to be efficacious and well tolerated in patients with <span class="disease" id="23686600-9-73-78">NSCLC</span> and may have future potential applications in treating lymphomas and other cancers driven by <span class="gene" id="23686600-9-172-175">ALK</span> or c-MET gene mutations. | CTD_human |
1 | 2 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 7325 | UBE2E2 | UBE2E2 | CTD_human | 20,818,381 | A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. | 0.203506 | A genome-wide association study in the Japanese population identifies susceptibility loci for <span class="disease" id="20818381-0-94-109">type 2 diabetes</span> at <span class="gene" id="20818381-0-113-119">UBE2E2</span> and C2CD4A-C2CD4B. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | OS | 1084 | null | CEA | null | 28,022,666 | To correlate PET and CEA with survivals, OS and PFS were calculated from date of first follow-up PET scans and compared by log-rank test. | null | null | null |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | glioblastoma | 590 | BCHE | BuChE | CTD_human | 2,317,787 | Our findings confirm previous genetic linkage mapping of the functional CHE gene to the 3q26-ter position and demonstrate that extended functional mRNA transcripts encoding a BuChE form with two modified amino acids are produced from this gene in glioblastoma and neuroblastoma cells. | 0.200275 | Our findings confirm previous genetic linkage mapping of the functional CHE gene to the 3q26-ter position and demonstrate that extended functional mRNA transcripts encoding a <span class="gene" id="2317787-9-175-180">BuChE</span> form with two modified amino acids are produced from this gene in <span class="disease" id="2317787-9-247-259">glioblastoma</span> and neuroblastoma cells. | CTD_human |
1 | 0 | Biomarker | C0022876 | Premature Obstetric Labor | phenotype | preterm labor | 6347 | CCL2 | CCL-2 | CTD_human | 18,606,702 | Monocyte chemoattractant protein-1 (CCL-2) integrates mechanical and endocrine signals that mediate term and preterm labor. | 0.205964 | <span class="gene" id="18606702-0-0-34">Monocyte chemoattractant protein-1</span> (<span class="gene" id="18606702-0-36-41">CCL-2</span>) integrates mechanical and endocrine signals that mediate term and <span class="disease" id="18606702-0-109-122">preterm labor</span>. | CTD_human |
1 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2D | 60685 | ZFAND3 | ZFAND3 | CTD_human | 22,158,537 | The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. | 0.2 | The combined analysis identified eight new <span class="disease" id="22158537-3-43-46">T2D</span> loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and <span class="gene" id="22158537-3-179-185">ZFAND3</span>. | CTD_human |
null | null | Negative | MESH:D009205 | null | null | myocarditis | 100124433 | null | MiR-208b | null | 28,065,693 | MiR-208b was also upregulated in DCM patients, but not in heart failure patients due to ischemic heart disease or myocarditis. | null | null | null |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 8165 | AKAP1 | AKAP1 | CTD_human | 20,975,297 | Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects. | 0.2 | Several genes and transcripts involved in lipolysis were down-regulated, such as <span class="gene" id="20975297-3-81-86">AKAP1</span>, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing <span class="disease" id="20975297-3-168-173">obese</span> to lean subjects. | CTD_human |
null | null | Negative | MESH:D020159 | null | null | TS | 6373 | null | BR-1 | null | 28,173,941 | This work has contributed to the development of a BRCA2-targeting antisense oligdeoxynucleotide (ASO) "BR-1" which we will test in vivo in combination with our TS-targeting ASO "SARI 83" and attempt early clinical trials in the future. | null | null | null |
null | null | Negative | MESH:D010505 | null | null | FMF | 1230 | null | chemokine (C-C motif ) receptor-1 | null | 28,149,656 | In the CD14+ monocytes population, chemokine (C-C motif ) receptor-1 (CCR1) was upregulated both in BD and FMF patients compared to that in the controls, whereas CCL5 was downregulated. | null | null | null |
1 | 0 | Biomarker | C0014008 | Empty Sella Syndrome | disease | empty sella | 30813 | VSX1 | RINX | CTD_human | 15,051,220 | VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. | 0.2 | <span class="gene" id="15051220-0-0-4">VSX1</span> (<span class="gene" id="15051220-0-6-10">RINX</span>) mutation with craniofacial anomalies, <span class="disease" id="15051220-0-50-61">empty sella</span>, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. | CTD_human |
3 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | pulmonary fibrosis | 1490 | CTGF | connective tissue growth factor | CTD_human | 26,817,844 | Last, the in vivo silencing efficacy of SAMiRNAs was evaluated by targeting amphiregulin and connective tissue growth factor in bleomycin or TGF-? transgenic animal models of pulmonary fibrosis. | 0.402747 | Last, the in vivo silencing efficacy of SAMiRNAs was evaluated by targeting amphiregulin and <span class="gene" id="26817844-6-93-124">connective tissue growth factor</span> in bleomycin or TGF-β transgenic animal models of <span class="disease" id="26817844-6-175-193">pulmonary fibrosis</span>. | CTD_human;HPO |
1 | 0 | Therapeutic | C0012739 | Disseminated Intravascular Coagulation | disease | disseminated intravascular coagulation | 7056 | THBD | MR-33 | CTD_human | 9,134,660 | Human urinary soluble thrombomodulin (MR-33) improves disseminated intravascular coagulation without affecting bleeding time in rats: comparison with low molecular weight heparin. | 0.200824 | Human urinary soluble <span class="gene" id="9134660-0-22-36">thrombomodulin</span> (<span class="gene" id="9134660-0-38-43">MR-33</span>) improves <span class="disease" id="9134660-0-54-92">disseminated intravascular coagulation</span> without affecting bleeding time in rats: comparison with low molecular weight heparin. | CTD_human |
null | null | Negative | MESH:D050723 | null | null | fractures | 250 | null | ALP | null | 28,137,094 | CONCLUSIONS: This analysis of 2,328 men shows degarelix-treated men had lower ALP, significantly fewer fractures, a lower incidence of urinary tract symptoms and higher overall survival than pts receiving an LHRH agonist over one year. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 6194 | RPS6 | ribosomal protein S6 | CTD_human | 21,147,110 | In HCC cell lines, the AKT-mammalian target of rapamycin complex 1-ribosomal protein S6 pathway promoted lipogenesis via transcriptional and post-transcriptional mechanisms that included inhibition of fatty acid synthase ubiquitination by the USP2a de-ubiquitinase and disruption of the SREBP1 and SREBP2 degradation complexes. | 0.200275 | In <span class="disease" id="21147110-8-3-6">HCC</span> cell lines, the AKT-mammalian target of rapamycin complex 1-<span class="gene" id="21147110-8-67-87">ribosomal protein S6</span> pathway promoted lipogenesis via transcriptional and post-transcriptional mechanisms that included inhibition of fatty acid synthase ubiquitination by the USP2a de-ubiquitinase and disruption of the SREBP1 and SREBP2 degradation complexes. | CTD_human |
1 | 2 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 4794 | NFKBIE | NFKBIE | CTD_human | 22,446,963 | Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2. | 0.202682 | Our study identified nine loci newly associated with <span class="disease" id="22446963-3-53-73">rheumatoid arthritis</span> at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, <span class="gene" id="22446963-3-147-153">NFKBIE</span>, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2. | CTD_human |
null | null | Negative | MESH:C566847 | null | null | PKD | 387 | null | RhoA | null | 28,017,639 | We previously demonstrated that S1P confers cardioprotection against ischemia/reperfusion by activating RhoA and its downstream effector PKD. | null | null | null |
null | null | Negative | MESH:D013119 | null | null | SCI | 29527 | null | cyclooxygenase-2 | null | 28,085,110 | GRg3 also attenuated the over-production of cyclooxygenase-2 and inducible nitric oxide synthase after SCI. | null | null | null |
1 | 0 | Therapeutic | C0025500 | Mesothelioma | disease | mesothelioma | 3458 | IFNG | IFN-gamma | CTD_human | 12,768,194 | In order to evaluate the effect of local delivery of cytokines such as interferon gamma (IFN-gamma) by gene transfer, we characterized and used a murine model, AK7, which appeared very similar to human mesothelioma. | 0.200549 | In order to evaluate the effect of local delivery of cytokines such as <span class="gene" id="12768194-4-71-87">interferon gamma</span> (<span class="gene" id="12768194-4-89-98">IFN-gamma</span>) by gene transfer, we characterized and used a murine model, AK7, which appeared very similar to human <span class="disease" id="12768194-4-202-214">mesothelioma</span>. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 3458 | null | IFN-y | null | 28,212,865 | CKIP-1 expression was strongly induced by pro-inflammatory M1 stimuli (LPS and IFN-y) and robustly suppressed by M2 stimuli (IL-4 and IL-13) in human and murine macrophage. | null | null | null |
3 | 0 | Biomarker | C0027794 | Neural Tube Defects | group | neural tube defects | 5077 | PAX3 | Pax3 | CTD_human | 12,854,658 | This study examines interactions of a mutation in Pax3, embryonic sex, advanced maternal age, and arsenite exposure in the splotch (Sp) mouse model, with the aim of describing gene-environment interactions for neural tube defects and embryonic lethality. | 0.206579 | This study examines interactions of a mutation in <span class="gene" id="12854658-1-50-54">Pax3</span>, embryonic sex, advanced maternal age, and arsenite exposure in the splotch (Sp) mouse model, with the aim of describing gene-environment interactions for <span class="disease" id="12854658-1-210-229">neural tube defects</span> and embryonic lethality. | CTD_human |
null | null | Negative | MESH:D018205 | null | null | AT | 84649 | null | DGAT2 | null | 28,145,418 | In omnivores the intervention led to an increased expression of lipogenic genes (DGAT2, FASN, PPARy, SCD1) in AT. | null | null | null |
null | null | Negative | MESH:C535600 | null | null | 2-hydroxypropyl-b-cyclodextrin | 3569 | null | IL-6 | null | 28,033,682 | This study compared the in-vitro effects of ropivacaine (ropi) in plain, liposomal (MLV) or 2-hydroxypropyl-b-cyclodextrin (HP-b-CD) formulations on cell viability, apoptosis and cytokine (IL-1a, TNF-a, IL-6 and IL-10) release. | null | null | null |
null | null | Negative | MESH:D015493 | null | null | HAM | 8784 | null | glucocorticoid-induced tumor necrosis factor receptor-related protein | null | 28,101,786 | In the current study, proviral load (PVL), factor forkhead box p3 (Foxp3), and glucocorticoid-induced tumor necrosis factor receptor-related protein (GITR) gene expression and regulatory T cells (Tregs) counts of 21 HAM/TSP patients and 16 HTLV-1 healthy carriers (ACs) were measured using real-time PCR, TaqMan method, and flow cytometry. | null | null | null |
null | null | Negative | OMIM:168600 | null | null | PD-L2 | 80380 | null | PDCD1LG2 | null | 28,112,728 | We also discovered amplifications in immune targets CD274 (also known as PD-L1) and PDCD1LG2 (also known as PD-L2), and the BCAR4 long non-coding RNA, which has been associated with response to lapatinib. | null | null | null |
null | null | Negative | MESH:D012598 | null | null | arteriolar sclerosis | 23435 | null | TDP-43 | null | 28,082,297 | macro- and microscopic infarcts, atherosclerosis, arteriolar sclerosis, and cerebral amyloid angiopathy), Lewy bodies, transactive response DNA-binding protein 43 (TDP-43) pathology, and hippocampal sclerosis. | null | null | null |
null | null | Negative | MESH:D006948 | null | null | hyperactivity | 18040 | null | neurofilament-M | null | 28,085,018 | injections in these mice decrease cdk5 hyperactivity, tau, neurofilament-M/H hyperphosphorylation, and restore synaptic function and behavior (i.e., spatial working memory, motor deficit using Rota-rod). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 22035 | null | TRAIL | null | 28,189,478 | Our data showed that different effects of rosarin and rosavin on TRAIL expression can involve distinct action on ERK signaling and hence highlighted their potential to manipulate TRAIL as a tool to rescue the resistance to apoptosis in autoimmune diseases and cancer. | null | null | null |
1 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2D | 894 | CCND2 | CCND2 | CTD_human | 24,464,100 | A low-frequency (1.47%) variant in intron 1 of CCND2, rs76895963[G], reduces risk of T2D by half (odds ratio (OR) = 0.53, P = 5.0 × 10(-21)) and is correlated with increased CCND2 expression. | 0.202956 | A low-frequency (1.47%) variant in intron 1 of <span class="gene" id="24464100-2-47-52">CCND2</span>, rs76895963[G], reduces risk of <span class="disease" id="24464100-2-85-88">T2D</span> by half (odds ratio (OR) = 0.53, P = 5.0 × 10(-21)) and is correlated with increased <span class="gene" id="24464100-2-174-179">CCND2</span> expression. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 17128 | null | SMAD4 | null | 28,174,172 | The chromosome 18q21 deletion in nearly one third of pancreatic adenocarcinomas eliminates not only the tumor suppressor SMAD4, but also neighboring genes with important cellular roles, such as ME2 This is tolerated by cancer cells only because ME2 has a functionally redundant paralog, ME3, elsewhere in the genome. | null | null | null |
null | null | Negative | MESH:D014842 | null | null | von Willebrand disease | 7450 | null | VWD | null | 28,151,804 | UNASSIGNED: The risk of pregnancy loss in von Willebrand disease (VWD) has been inconsistently reported. | null | null | null |
2 | 0 | Therapeutic | C0878544 | Cardiomyopathies | group | cardiomyopathy | 3082 | HGF | Hepatocyte growth factor | CTD_human | 16,109,756 | Hepatocyte growth factor delivered by ultrasound-mediated destruction of microbubbles induces proliferation of cardiomyocytes and amelioration of left ventricular contractile function in Doxorubicin-induced cardiomyopathy. | 0.200824 | <span class="gene" id="16109756-0-0-24">Hepatocyte growth factor</span> delivered by ultrasound-mediated destruction of microbubbles induces proliferation of cardiomyocytes and amelioration of left ventricular contractile function in Doxorubicin-induced <span class="disease" id="16109756-0-207-221">cardiomyopathy</span>. | CTD_human |
2 | 0 | Biomarker | C0023891 | Liver Cirrhosis, Alcoholic | disease | alcoholic cirrhosis | 4353 | MPO | Myeloperoxidase | CTD_human | 19,731,237 | Myeloperoxidase and superoxide dismutase 2 polymorphisms comodulate the risk of hepatocellular carcinoma and death in alcoholic cirrhosis. | 0.202682 | <span class="gene" id="19731237-0-0-15">Myeloperoxidase</span> and superoxide dismutase 2 polymorphisms comodulate the risk of hepatocellular carcinoma and death in <span class="disease" id="19731237-0-118-137">alcoholic cirrhosis</span>. | CTD_human |
null | null | Negative | MESH:D002318 | null | null | cardiovascular disease | 109821 | null | FXI | null | 28,148,841 | Our results outline a coagulation-inflammation circuit that promotes vascular dysfunction, and highlight the possible utility of FXI-targeted anticoagulants in treating hypertension, beyond their application as antithrombotic agents in cardiovascular disease. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | chronic inflammation | 216799 | null | NLRP3 | null | 28,192,528 | Using murine models of inflammation induced by the protozoan parasite leishmania, and data obtained from patients with cutaneous leishmaniasis, we uncovered a previously unrecognized role for NLRP3 inflammasome activation and IL-1b release as a detrimental consequence of CD8+ T cell-mediated cytotoxicity, ultimately resulting in chronic inflammation. | null | null | null |
3 | 0 | Biomarker | C1848519 | WAARDENBURG SYNDROME, TYPE 4A | disease | Waardenburg syndrome type IV | 1908 | EDN3 | endothelin 3 | CTD_human | 17,516,928 | A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. | 0.401648 | A mouse model of <span class="disease" id="17516928-0-17-45">Waardenburg syndrome type IV</span> resulting from an ENU-induced mutation in <span class="gene" id="17516928-0-88-100">endothelin 3</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D018205 | null | null | WAT | 19017 | null | Pgc1a | null | 28,107,769 | CL-316243 injection markedly elevated thermogenic and mitochondrial gene expression, including peroxisome proliferator-activated receptor y coactivator 1a (Pgc1a) in the subcutaneous WAT of Ifrd1 knockout mice compared with gene expression in wild-type mice. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | GI disease | 1401 | null | C-reactive protein | null | 28,093,196 | BACKGROUND: Whilst C-reactive protein (CRP) is an established serum marker of inflammation, its use in gastroenterology has been limited by its poor sensitivity and specificity for GI disease. | null | null | null |
6 | 1,072 | Biomarker | C0020445 | Hypercholesterolemia, Familial | disease | familial hypercholesterolemia | 3949 | LDLR | LDL-receptor | CTD_human | 12,522,687 | Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. | 0.622857 | Interaction between the <span class="gene" id="12522687-0-24-36">LDL-receptor</span> gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member <span class="disease" id="12522687-0-151-180">familial hypercholesterolemia</span> kindred. | CTD_human;HPO |
1 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | ASD | 57502 | NLGN4X | NLGN4 | CTD_human | 18,252,227 | Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. | 0.204121 | Notwithstanding complexities, our results further implicate the SHANK3-<span class="gene" id="18252227-8-71-76">NLGN4</span>-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in <span class="disease" id="18252227-8-236-239">ASD</span> susceptibility. | CTD_human |
1 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmunity | 3569 | IL6 | IL-6 | CTD_human | 19,077,085 | Therefore, the attenuated autoimmunity following loss of IL-4 and IL-6 is dose-dependent, as higher doses of Hg are able to override the attenuation observed using lower doses. | 0.41936 | Therefore, the attenuated <span class="disease" id="19077085-7-26-38">autoimmunity</span> following loss of IL-4 and <span class="gene" id="19077085-7-66-70">IL-6</span> is dose-dependent, as higher doses of Hg are able to override the attenuation observed using lower doses. | CTD_human;HPO |
1 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 3725 | JUN | AP-1 | CTD_human | 20,716,630 | Our results support the concept that AP-1 is a key regulator of mouse lung tumorigenesis, and identify AP-1-dependent transcription as a potential target to prevent lung tumor progression. | 0.202733 | Our results support the concept that <span class="gene" id="20716630-10-37-41">AP-1</span> is a key regulator of mouse lung tumorigenesis, and identify <span class="gene" id="20716630-10-103-107">AP-1</span>-dependent transcription as a potential target to prevent <span class="disease" id="20716630-10-165-175">lung tumor</span> progression. | CTD_human |
null | null | Negative | MESH:D052016 | null | null | mucositis | 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 |
1 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 10887 | PROKR1 | pkr1 | CTD_human | 16,793,879 | In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused hyperalgesia and sensitized to the actions of capsaicin. pkr1-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2). | 0.2 | In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused <span class="disease" id="16793879-5-68-80">hyperalgesia</span> and sensitized to the actions of capsaicin. <span class="gene" id="16793879-5-125-129">pkr1</span>-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2). | CTD_human |
27 | 1 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 6622 | SNCA | SNCA | CTD_human | 19,915,576 | By comparing results of a GWAS performed on individuals of European ancestry, we identified PARK16, SNCA and LRRK2 as shared risk loci for PD and BST1 and MAPT as loci showing population differences. | 0.44 | By comparing results of a GWAS performed on individuals of European ancestry, we identified PARK16, <span class="gene" id="19915576-4-100-104">SNCA</span> and LRRK2 as shared risk loci for <span class="disease" id="19915576-4-139-141">PD</span> and BST1 and MAPT as loci showing population differences. | CTD_human |
1 | 0 | Biomarker | C0019151 | Hepatic Encephalopathy | disease | portal-systemic encephalopathy | 2752 | GLUL | glutamine synthetase | CTD_human | 10,564,534 | In portal-systemic encephalopathy resulting from chronic liver failure, astrocytes manifest altered expression of several key proteins and enzymes including monoamine oxidase B, glutamine synthetase, and the so-called peripheral-type benzodiazepine receptors. | 0.2 | In <span class="disease" id="10564534-5-3-33">portal-systemic encephalopathy</span> resulting from chronic liver failure, astrocytes manifest altered expression of several key proteins and enzymes including monoamine oxidase B, <span class="gene" id="10564534-5-178-198">glutamine synthetase</span>, and the so-called peripheral-type benzodiazepine receptors. | CTD_human |
null | null | Negative | MESH:D015456 | null | null | pre-B ALL | 5079 | null | PAX5 | null | 28,192,788 | Reconstitution of PAX5 and IKZF1 in samples from patients with pre-B ALL restored a non-permissive state and induced energy crisis and cell death. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 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 |
1 | 0 | Biomarker | C0021364 | Male infertility | phenotype | male infertility | 196 | AHR | aryl hydrocarbon receptor | CTD_human | 21,613,234 | Assessment of an association between an aryl hydrocarbon receptor gene (AHR) polymorphism and risk of male infertility. | 0.200824 | Assessment of an association between an <span class="gene" id="21613234-0-40-65">aryl hydrocarbon receptor</span> gene (AHR) polymorphism and risk of <span class="disease" id="21613234-0-102-118">male infertility</span>. | CTD_human |
null | null | Negative | MESH:C535761 | null | null | CNF | 931;25802 | null | B1, D1, E and F | null | 28,015,488 | Immunohistochemistry (IHC) was used to detect cyclin A, B1, D1, E and F (CNA, CNB1, CND1, CNE, CNF), Ki67, and ER. | null | null | null |
null | null | Negative | MESH:D003643 | null | null | death | 309122 | null | H19 | null | 28,203,482 | Inhibition of lncRNA H19 and autophagy protected cells from OGD/R-induced death, respectively. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 17709 | null | COX2 | null | 28,054,242 | Moreover, SFN counteracted CCI enhancement of COX2 and iNOS in injured nerves, two key enzymes implicated in inflammation and neuropathic pain. | null | null | null |
1 | 0 | Biomarker | C0017638 | Glioma | disease | glioma | 7494 | XBP1 | XBP1 | CTD_human | 21,138,464 | Targeting X box-binding protein-1 (XBP1) enhances sensitivity of glioma cells to oxidative stress. | 0.200549 | Targeting <span class="gene" id="21138464-0-10-33">X box-binding protein-1</span> (<span class="gene" id="21138464-0-35-39">XBP1</span>) enhances sensitivity of <span class="disease" id="21138464-0-65-71">glioma</span> cells to oxidative stress. | CTD_human |
1 | 0 | Biomarker | C0027947 | Neutropenia | disease | neutropenia | 3553 | IL1B | IL-1 beta | CTD_human | 1,884,014 | Fewer days of neutropenia were noted after 5-FU plus IL-1 beta than after 5-FU alone; however, this difference did not reach statistical significance. | 0.202407 | Fewer days of <span class="disease" id="1884014-7-14-25">neutropenia</span> were noted after 5-FU plus <span class="gene" id="1884014-7-53-62">IL-1 beta</span> than after 5-FU alone; however, this difference did not reach statistical significance. | CTD_human |
null | null | Negative | MESH:D018149 | null | null | OGD | 16193 | null | IL-6 | null | 28,093,478 | Silencing of Malat1 also significantly aggravated OGD-induced expression of the proapoptotic factor Bim and proinflammatory cytokines MCP-1, IL-6, and E-selectin. | null | null | null |
2 | 0 | Biomarker | C0243026 | Sepsis | disease | sepsis | 3146 | HMGB1 | HMGB1 | CTD_human | 19,265,175 | Quercetin delivery, a strategy to pharmacologically inhibit HMGB1 release that is effective at clinically achievable concentrations, now warrants further evaluation in sepsis and other systemic inflammatory disorders. | 0.214415 | Quercetin delivery, a strategy to pharmacologically inhibit <span class="gene" id="19265175-8-60-65">HMGB1</span> release that is effective at clinically achievable concentrations, now warrants further evaluation in <span class="disease" id="19265175-8-168-174">sepsis</span> and other systemic inflammatory disorders. | CTD_human |
null | null | Negative | MESH:D001927 | null | null | Brain infection | 15977 | null | interferon-b | null | 28,095,439 | Brain infection with DENV-2 is associated with the induction of interferon-b (IFN-b) and IFN-stimulated gene (ISG) expression including viperin, Ifi27l2a, IRF7, and CXCL10 without any significant differences between WT and SK1-/- mice. | null | null | null |
1 | 0 | Biomarker | C0265210 | Weaver syndrome | disease | Weaver syndrome | 64324 | NSD1 | NSD1 | CTD_human | 12,807,965 | We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series. | 0.401374 | We conclude therefore that <span class="gene" id="12807965-8-27-31">NSD1</span> mutations account for most cases of Sotos syndrome and a significant number of <span class="disease" id="12807965-8-111-126">Weaver syndrome</span> cases in our series. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0027831 | Neurofibromatosis 1 | disease | neurofibromatosis 1 | 161742 | SPRED1 | SPRED1 | CTD_human | 17,704,776 | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 0.211393 | Germline loss-of-function mutations in <span class="gene" id="17704776-0-39-45">SPRED1</span> cause a <span class="disease" id="17704776-0-54-73">neurofibromatosis 1</span>-like phenotype. | CTD_human |
null | null | Negative | MESH:D002543 | null | null | ICH | 24887 | null | Bax | null | 28,098,881 | Western blotting was used to detect the protein expression of GRP75, active caspase -3, Bax, Bcl -2, p -Akt and Akt in brain tissues following ICH. | null | null | null |
null | null | Negative | MESH:D003027 | null | null | cluster of differentiation | 3002 | null | granzyme B | null | 28,105,157 | TIL subsets were enumerated by immunohistochemical staining for cluster of differentiation (CD)3, CD4, CD8, Foxp3 and granzyme B in the intra-tumoral areas of tissue blocks. | null | null | null |
1 | 0 | Biomarker | C0002622 | Amnesia | disease | amnesia | 5443 | POMC | ACTH | CTD_human | 2,841,920 | Naloxone had no effect of its own and did not influence the reversal of ACTH-induced amnesia caused by pretest ACTH in the afternoon. | 0.2 | Naloxone had no effect of its own and did not influence the reversal of <span class="gene" id="2841920-6-72-76">ACTH</span>-induced <span class="disease" id="2841920-6-85-92">amnesia</span> caused by pretest <span class="gene" id="2841920-6-111-115">ACTH</span> in the afternoon. | CTD_human |
4 | 0 | Biomarker | C0020437 | Hypercalcemia | disease | hypercalcaemia | 5744 | PTHLH | parathyroid hormone-related protein | CTD_human | 12,358,896 | Superior vena cava syndrome and hypercalcaemia in a patient with a primary mediastinal B-cell lymphoma secreting parathyroid hormone-related protein. | 0.226866 | Superior vena cava syndrome and <span class="disease" id="12358896-0-32-46">hypercalcaemia</span> in a patient with a primary mediastinal B-cell lymphoma secreting <span class="gene" id="12358896-0-113-148">parathyroid hormone-related protein</span>. | CTD_human |
2 | 0 | Biomarker | C0282193 | Iron Overload | disease | iron overload | 57817 | HAMP | hepcidin | CTD_human | 20,801,540 | Iron accumulation in aceruloplasminemia is a result of defective cellular iron export, where hepcidin regulation is appropriate for the degree of iron overload. | 0.332688 | Iron accumulation in aceruloplasminemia is a result of defective cellular iron export, where <span class="gene" id="20801540-11-93-101">hepcidin</span> regulation is appropriate for the degree of <span class="disease" id="20801540-11-146-159">iron overload</span>. | CTD_human |
null | null | Negative | MESH:D063646 | null | null | carcinogenesis | 6367 | null | CCL22 | null | 28,086,903 | It may therefore be that, in microenvironment of cervical squamous cell carcinoma, along with the context of HPV infection, negative immune regulators FoxP3, CCL22 and CCR4 might overwhelm positive immune factors OX40L, OX40 and Smad3, giving rise to an immunosuppressive status and promote the progression of cervical carcinogenesis. | null | null | null |
null | null | Negative | MESH:D015427 | null | null | attenuated IR injury | 81722 | null | RAGE | null | 28,181,586 | Thus, mangiferin attenuated IR injury in diabetic rats by modulation of AGE-RAGE/MAPK pathways which further prevented oxidative stress, inflammation and apoptosis in the myocardium. | null | null | null |
3 | 0 | Therapeutic | C0036572 | Seizures | phenotype | seizure | 4852 | NPY | neuropeptide Y | CTD_human | 16,194,568 | Differential effects of vigabatrin and zonisamide on the neuropeptide Y system in the hippocampus of seizure prone gerbil. | 0.282747 | Differential effects of vigabatrin and zonisamide on the <span class="gene" id="16194568-0-57-71">neuropeptide Y</span> system in the hippocampus of <span class="disease" id="16194568-0-101-108">seizure</span> prone gerbil. | CTD_human |
null | null | Negative | MESH:C563551 | null | null | transient abnormal myelopoiesis | 8205 | null | TAM | null | 28,202,857 | Infants with Down Syndrome (DS) are at risk of developing a transient abnormal myelopoiesis (TAM). | null | null | null |
null | null | Negative | MESH:D007410 | null | null | intestinal diseases | 16171 | null | IL-17 | null | 28,138,329 | These findings highlight the importance of intestinal GABA signaling in intestinal IL-17 expression during intestinal infection and indicate the potential of intestinal microbiota-GABA signaling in IL-17-associated intestinal diseases. | null | null | null |
null | null | Negative | MESH:D016411 | null | null | peripheral T-cell lymphoma | 396849 | null | RHOA | null | 28,157,189 | UNASSIGNED: Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. | null | null | null |
6 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizures | 1392 | CRH | CRH | CTD_human | 1,914,160 | CRH-induced seizures occurred prior to any changes in serum corticosterone, and were eliminated by the administration of a CRH antagonist, as well as of phenytoin. | 0.200275 | <span class="gene" id="1914160-4-0-3">CRH</span>-induced <span class="disease" id="1914160-4-12-20">seizures</span> occurred prior to any changes in serum corticosterone, and were eliminated by the administration of a <span class="gene" id="1914160-4-123-126">CRH</span> antagonist, as well as of phenytoin. | CTD_human |
1 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | acute promyelocytic leukemia | 5573 | PRKAR1A | PRKAR1A | CTD_human | 17,712,046 | The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia. | 0.400549 | The <span class="gene" id="17712046-0-4-11">PRKAR1A</span> gene is fused to RARA in a new variant <span class="disease" id="17712046-0-51-79">acute promyelocytic leukemia</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0014356 | Enterocolitis | disease | enterocolitis | 58484 | NLRC4 | NLRC4 | CTD_human | 25,217,960 | Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. | 0.200275 | Mutation of <span class="gene" id="25217960-0-12-17">NLRC4</span> causes a syndrome of <span class="disease" id="25217960-0-39-52">enterocolitis</span> and autoinflammation. | CTD_human |