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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D006973 | null | null | hypertension | 65030 | null | Ephx2 | null | 28,105,924 | Four of them (Avpr1a, Hsd11b2, Agt, Ephx2) may provoke the hypertension development, and Mpo may contribute to insulin resistance and inflammation in the ISIAH rats. | null | null | null |
2 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's disease | 1565 | CYP2D6 | CYP2D6 | CTD_human | 15,174,030 | Further evidence that interactions between CYP2D6 and pesticide exposure increase risk for Parkinson's disease. | 0.254721 | Further evidence that interactions between <span class="gene" id="15174030-0-43-49">CYP2D6</span> and pesticide exposure increase risk for <span class="disease" id="15174030-0-91-110">Parkinson's disease</span>. | CTD_human |
2 | 0 | Biomarker | C0079774 | Peripheral T-Cell Lymphoma | disease | PTCL | 1788 | DNMT3A | DNMT3A | CTD_human | 24,413,734 | These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples. | 0.2 | These analyses identified highly recurrent epigenetic factor mutations in TET2, <span class="gene" id="24413734-3-80-86">DNMT3A</span> and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) <span class="disease" id="24413734-3-274-278">PTCL</span>, not otherwise specified (<span class="disease" id="24413734-3-305-309">PTCL</span>-NOS) samples. | CTD_human |
1 | 0 | Biomarker | C0018552 | Hamartoma | disease | Hamartomas | 1543 | CYP1A1 | cytochrome P450 1A1 | CTD_human | 21,998,131 | Hamartomas created a new compartment that concentrated TCDD up to 10-fold compared with serum and strongly expressed the TCDD-metabolizing enzyme cytochrome P450 1A1, thus representing a potentially significant source of enzymatic activity, which may add to the xenobiotic metabolism potential of the classical organs such as the liver. | 0.200275 | <span class="disease" id="21998131-6-0-10">Hamartomas</span> created a new compartment that concentrated TCDD up to 10-fold compared with serum and strongly expressed the TCDD-metabolizing enzyme <span class="gene" id="21998131-6-146-165">cytochrome P450 1A1</span>, thus representing a potentially significant source of enzymatic activity, which may add to the xenobiotic metabolism potential of the classical organs such as the liver. | CTD_human |
null | null | Negative | MESH:D003704 | null | null | dementia | 25978 | null | CHMP2B | null | 28,093,491 | Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. | null | null | null |
1 | 0 | Biomarker | C2607914 | Allergic rhinitis (disorder) | disease | allergic rhinitis | 3269 | HRH1 | H1R | CTD_human | 23,333,628 | It has been reported that the histamine H1 receptor (H1R) gene is up-regulated in patients with allergic rhinitis and H1R expression level strongly correlates with the severity of allergy symptoms. | 0.201374 | It has been reported that the histamine H1 receptor (<span class="gene" id="23333628-1-53-56">H1R</span>) gene is up-regulated in patients with <span class="disease" id="23333628-1-96-113">allergic rhinitis</span> and H1R expression level strongly correlates with the severity of allergy symptoms. | CTD_human |
1 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmune diseases | 7132 | TNFRSF1A | TNFR1 | CTD_human | 21,074,606 | Thus, our results suggest that TNFR1 mediates SBS and dysregulation of clock genes in autoimmune diseases. | 0.201923 | Thus, our results suggest that <span class="gene" id="21074606-7-31-36">TNFR1</span> mediates SBS and dysregulation of clock genes in <span class="disease" id="21074606-7-86-105">autoimmune diseases</span>. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24494 | null | interleukin-1 beta | null | 28,142,118 | The elevated concentration of inflammatory cytokines tumor necrosis factor-alpha (TNF-a), interleukin-1 beta (IL-1b) and IL-6 in MI rats were effectively reversed by the DGBUT administration. | null | null | null |
1 | 0 | Biomarker | C0243026 | Sepsis | disease | sepsis | 3929 | LBP | lipopolysaccharide binding protein | CTD_human | 22,167,001 | A functional variant of lipopolysaccharide binding protein predisposes to sepsis and organ dysfunction in patients with major trauma. | 0.208869 | A functional variant of <span class="gene" id="22167001-0-24-58">lipopolysaccharide binding protein</span> predisposes to <span class="disease" id="22167001-0-74-80">sepsis</span> and organ dysfunction in patients with major trauma. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 5563 | null | AMPK | null | 28,061,838 | CONCLUSION: CPT inhibiting mTORC1 pathway was mostly due to activation of AMPK-TSC2 axis rather than specific binding to mTORC1. | null | null | null |
2 | 0 | Biomarker | C0026848 | Myopathy | group | myopathy | 270 | AMPD1 | AMPD1 | CTD_human | 11,102,975 | First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. | 0.202682 | First missense mutations (R388W and R425H) of <span class="gene" id="11102975-0-46-51">AMPD1</span> accompanied with <span class="disease" id="11102975-0-69-77">myopathy</span> found in a Japanese patient. | CTD_human |
null | null | Negative | MESH:D007710 | null | null | Klebsiella | 81502 | null | spp | null | 28,108,677 | Methods: A total of 328 E. coli , 35 Klebsiella spp. | null | null | null |
null | null | Negative | MESH:D007938 | null | null | lineage leukemia-eleven nineteen leukemia | 64144 | null | ENL | null | 28,068,328 | We here explored this issue using an inducible mixed lineage leukemia-eleven nineteen leukemia (MLL-ENL) mouse model. | null | null | null |
1 | 0 | Biomarker | C0024299 | Lymphoma | group | malignant lymphoma | 4548 | MTR | MS | CTD_human | 16,799,656 | For the MS 2756 AG genotype polymorphism there was also a higher susceptibility to developing malignant lymphoma (OR=2.6; 95% CI 1.1- 6.4). | 0.215266 | For the <span class="gene" id="16799656-9-8-10">MS</span> 2756 AG genotype polymorphism there was also a higher susceptibility to developing <span class="disease" id="16799656-9-94-112">malignant lymphoma</span> (OR=2.6; 95% CI 1.1- 6.4). | CTD_human |
1 | 0 | Biomarker | C0497327 | Dementia | disease | dementia | 1786 | DNMT1 | DNMT1 | CTD_human | 21,532,572 | Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. | 0.401374 | Mutations in <span class="gene" id="21532572-0-13-18">DNMT1</span> cause hereditary sensory neuropathy with <span class="disease" id="21532572-0-60-68">dementia</span> and hearing loss. | CTD_human;HPO |
2 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 816 | CAMK2B | CaMKIIbeta | CTD_human | 20,336,626 | The elevated levels of CaMKIIbeta mRNA in the striatum suggest that this enzyme may increase D2(High) in animals and possibly in schizophrenia itself. | 0.205466 | The elevated levels of <span class="gene" id="20336626-9-23-33">CaMKIIbeta</span> mRNA in the striatum suggest that this enzyme may increase D2(High) in animals and possibly in <span class="disease" id="20336626-9-129-142">schizophrenia</span> itself. | CTD_human |
null | null | Negative | MESH:D013959 | null | null | hypothalamus-pituitary-thyroid (HPT) axis | 25360 | null | thyroid stimulating hormone receptor | null | 28,054,989 | DEHP treatment influenced the levels of rats' thyrotropin releasing hormone receptor (TRHr), Deiodinases 1 (D1), thyroid stimulating hormone beta (TSHb), sodium iodide symporter (NIS), thyroid stimulating hormone receptor (TSHr), thyroperoxidase (TPO), thyroid transcription factor 1 (TTF-1), and thyroglobulin (TG) mRNA/protein expression in the hypothalamus-pituitary-thyroid (HPT) axis and decreased urine iodine. | null | null | null |
null | null | Negative | MESH:D010146 | null | null | pain | 18126 | null | iNOS | 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 |
2 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | end-stage renal disease | 4627 | MYH9 | MYH9 | CTD_human | 18,794,854 | MYH9 is associated with nondiabetic end-stage renal disease in African Americans. | 0.213815 | <span class="gene" id="18794854-0-0-4">MYH9</span> is associated with nondiabetic <span class="disease" id="18794854-0-36-59">end-stage renal disease</span> in African Americans. | CTD_human |
null | null | Negative | MESH:D006333 | null | null | heart failure | 100126336 | 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 |
16 | 19 | Biomarker | C0162566 | Porphyria Cutanea Tarda | disease | PCT | 7389 | UROD | UROD | CTD_human | 12,030,801 | Porphyria cutanea tarda (PCT) is a metabolic disorder of heme biosynthesis, characterized by reduced uroporphyrinogen decarboxylase (UROD) activity and increased urinary excretion of eight and seven carboxyl group porphyrins. | 0.628672 | <span class="disease" id="12030801-1-0-23">Porphyria cutanea tarda</span> (<span class="disease" id="12030801-1-25-28">PCT</span>) is a metabolic disorder of heme biosynthesis, characterized by reduced <span class="gene" id="12030801-1-101-131">uroporphyrinogen decarboxylase</span> (<span class="gene" id="12030801-1-133-137">UROD</span>) activity and increased urinary excretion of eight and seven carboxyl group porphyrins. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D052177 | null | null | cystic kidneys | 406952 | null | miR-17 | null | 28,205,547 | Mechanistically, c-Myc upregulates miR-17 92 in cystic kidneys, which in turn aggravates cyst growth by inhibiting oxidative phosphorylation and stimulating proliferation through direct repression of Ppara. | null | null | null |
null | null | Negative | MESH:D051437 | null | null | kidney failure | 60498 | null | IgAN | null | 28,209,808 | IgA nephropathy (IgAN), an important cause of kidney failure, is characterized by glomerular IgA deposition and is associated with changes in O-glycosylation of the IgA1 molecule. | null | null | null |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 9993 | DGCR2 | DGCR2 | CTD_human | 21,822,266 | We identified 40 de novo mutations in 27 cases affecting 40 genes, including a potentially disruptive mutation in DGCR2, a gene located in the schizophrenia-predisposing 22q11.2 microdeletion region. | 0.208096 | We identified 40 de novo mutations in 27 cases affecting 40 genes, including a potentially disruptive mutation in <span class="gene" id="21822266-3-114-119">DGCR2</span>, a gene located in the <span class="disease" id="21822266-3-143-156">schizophrenia</span>-predisposing 22q11.2 microdeletion region. | CTD_human |
1 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 7124 | TNF | TNF | CTD_human | 17,192,785 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | 0.293672 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential <span class="disease" id="17192785-5-113-130">Alzheimer disease</span> susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and <span class="gene" id="17192785-5-231-234">TNF</span>) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | CTD_human |
1 | 0 | Biomarker | C0027947 | Neutropenia | disease | neutropenia | 7172 | TPMT | thiopurine methyltransferase | CTD_human | 18,662,289 | The study confirmed the association of thiopurine methyltransferase heterozygosity with leucopenia and neutropenia in ALL patients and reported a significant association between inosine triphosphatase IVS2+21A-->C variants with thrombocytopenia (P = 0.012). | 0.203781 | The study confirmed the association of <span class="gene" id="18662289-8-39-67">thiopurine methyltransferase</span> heterozygosity with leucopenia and <span class="disease" id="18662289-8-103-114">neutropenia</span> in ALL patients and reported a significant association between inosine triphosphatase IVS2+21A-->C variants with thrombocytopenia (P = 0.012). | CTD_human |
null | null | Negative | MESH:D029424 | null | null | COPD | 404677 | null | CIMT | null | 28,137,492 | METHODS: We searched PUBMED, EMBASE for studies published before Aug 1st, 2016, on the association between COPD and carotid intima-media thickness (CIMT), prevalence of carotid plaques, flow-mediated dilation (FMD), pulse-wave velocity (PWV) and augmentation index (AIx). | null | null | null |
4 | 0 | Therapeutic | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3557 | IL1RN | IL-1ra | CTD_human | 15,317,861 | Similarly, intrathecal IL-1ra administered after the establishment of morphine tolerance reversed hyperalgesia and prevented the additional development of tolerance and allodynia. | 0.28 | Similarly, intrathecal <span class="gene" id="15317861-5-23-29">IL-1ra</span> administered after the establishment of morphine tolerance reversed <span class="disease" id="15317861-5-98-110">hyperalgesia</span> and prevented the additional development of tolerance and allodynia. | CTD_human |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 1,321,309 | The role of this increased pressor responsiveness in ACTH/steroid-induced hypertension remains to be determined. | 0.203846 | The role of this increased pressor responsiveness in <span class="gene" id="1321309-8-53-57">ACTH</span>/steroid-induced <span class="disease" id="1321309-8-74-86">hypertension</span> remains to be determined. | CTD_human |
2 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | ESRD | 847 | CAT | CAT | CTD_human | 16,518,626 | The activity of SOD, GSH-Px, CAT, concentrations of erythrocyte and plasma Se, Cu, Zn were lower in children with ESRD than in controls. | 0.282682 | The activity of SOD, GSH-Px, <span class="gene" id="16518626-8-29-32">CAT</span>, concentrations of erythrocyte and plasma Se, Cu, Zn were lower in children with <span class="disease" id="16518626-8-114-118">ESRD</span> than in controls. | CTD_human |
null | null | Negative | MESH:D015352 | null | null | dry eye | 303887 | null | rMuc4 | null | 28,009,531 | CONCLUSIONS: VApal promoted corneal rMuc4, conjunctival rMuc5AC, and conjunctival rMuc16 gene expression in a rat dry eye model after injury. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | Spinocerebellar Ataxia Functional Index | 9372 | null | SARA | null | 28,068,987 | Secondary objectives are to demonstrate that acetyl-DL-leucine is effective in improving (1) motor function measured by the Spinocerebellar Ataxia Functional Index (SCAFI) and SARA subscore items and (2) QoL (EuroQoL 5 dimensions and 5 level version, EQ-5D-5 L), depression (Beck Depression Inventory, BDI-II) and fatigue (Fatigue Severity Score, FSS). | null | null | null |
null | null | Negative | MESH:C537771 | null | null | anorectal malformations | 652 | null | Bone Morphogenetic Protein 4 | null | 28,057,877 | STUDY QUESTION: Are anorectal malformations (ARMs) associated with previous miscarriages or single nucleotide polymorphisms (SNPs) in the Bone Morphogenetic Protein 4 (BMP4) and GLI family zinc finger 2 (GLI2) genes? | null | null | null |
null | null | Negative | MESH:D001835 | null | null | body weight | 18024 | null | nuclear factor-like 2 | null | 28,192,751 | Lung weight/body weight index, lung tissue hydroxyproline, collagen, toll-like receptor 4 (TLR4), nuclear factor-like 2 (Nrf2), heme oxygenase-1 (HO-1), malondialdehyde (MDA), glutathione peroxidase (GPx) and catalase (CAT) were measured. | null | null | null |
1 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumor | 55256 | ADI1 | ADI1 | CTD_human | 17,786,183 | Immunohistochemistry of prostate tumor tissue microarrays showed that benign regions expressed more ADI1 than tumors, suggesting a suppressive role for ADI1 in prostate cancer. | 0.203008 | Immunohistochemistry of <span class="disease" id="17786183-6-24-38">prostate tumor</span> tissue microarrays showed that benign regions expressed more <span class="gene" id="17786183-6-100-104">ADI1</span> than tumors, suggesting a suppressive role for <span class="gene" id="17786183-6-152-156">ADI1</span> in prostate cancer. | CTD_human |
null | null | Negative | MESH:C566759 | null | null | cytokine release syndrome | 12478 | null | CD19 | null | 28,187,946 | However, B cell aplasia and cytokine release syndrome (CRS) secondary to the infusion of CD19.CAR-Ts remain significant drawbacks. | null | null | null |
null | null | Negative | MESH:C536528 | null | null | LPS | 57314 | null | Th1 | null | 28,142,300 | In contrast, high-dose LPS (20 g) favored the suppression of Th2 cytokines, IL-6 and IL-25, but failed to induce Th1 cytokines (e.g. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 20850 | null | STAT5A | null | 28,034,671 | Promoter analysis revealed that NOX5-L expression is regulated by STAT5A in breast cancer cells. | null | null | null |
1 | 0 | Biomarker | C0175693 | Russell-Silver syndrome | disease | Silver-Russell syndrome | 1442 | CSH1 | CSH1 | CTD_human | 14,642,004 | Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25. | 0.200824 | Characterization of genomic variants in <span class="gene" id="14642004-0-40-44">CSH1</span> and GH2, two candidate genes for <span class="disease" id="14642004-0-78-101">Silver-Russell syndrome</span> in 17q24-q25. | CTD_human |
null | null | Negative | MESH:D008831 | null | null | microcephaly | 321898 | null | PSMD12 | null | 28,132,691 | Our PSMD12 loss-of-function zebrafish CRISPR/Cas9 model exhibited microcephaly, decreased convolution of the renal tubules, and abnormal craniofacial morphology. | null | null | null |
1 | 0 | Biomarker | C0027720 | Nephrosis | disease | nephrosis | 7827 | NPHS2 | podocin | CTD_human | 15,684,566 | Nephrin and podocin expression around the onset of puromycin aminonucleoside nephrosis. | 0.203231 | Nephrin and <span class="gene" id="15684566-0-12-19">podocin</span> expression around the onset of puromycin aminonucleoside <span class="disease" id="15684566-0-77-86">nephrosis</span>. | CTD_human |
1 | 4 | Biomarker | C0175704 | LEOPARD Syndrome | disease | LEOPARD syndromes | 5894 | RAF1 | RAF1 | CTD_human | 17,603,483 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 0.408921 | Gain-of-function <span class="gene" id="17603483-0-17-21">RAF1</span> mutations cause Noonan and <span class="disease" id="17603483-0-49-66">LEOPARD syndromes</span> with hypertrophic cardiomyopathy. | CTD_human;ORPHANET |
null | null | Negative | MESH:C562710 | null | null | IRAN, type A | 3630 | null | insulin | null | 28,181,734 | Monoallelic defects result in milder insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN, type A). | null | null | null |
7 | 0 | Biomarker | C0009375 | Colonic Neoplasms | group | colon tumors | 324 | APC | Apc | CTD_human | 7,846,077 | Specific 5'-GGGA-3'-->5'-GGA-3' mutation of the Apc gene in rat colon tumors induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. | 0.311809 | Specific 5'-GGGA-3'-->5'-GGA-3' mutation of the <span class="gene" id="7846077-0-48-51">Apc</span> gene in rat <span class="disease" id="7846077-0-64-76">colon tumors</span> induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. | CTD_human |
null | null | Negative | MESH:D006528 | null | null | HCC | 71660 | null | chemerin | null | 28,166,197 | However, the role of chemerin in HCC remains unclear. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | type | 2896 | null | progranulin | null | 28,002,034 | INTRODUCTION: The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls. | null | null | null |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 729230 | CCR2 | CCR2 | CTD_human | 20,034,406 | Chemokine CCL2 and its receptor CCR2 are increased in the hippocampus following pilocarpine-induced status epilepticus. | 0.2 | Chemokine CCL2 and its receptor <span class="gene" id="20034406-0-32-36">CCR2</span> are increased in the hippocampus following pilocarpine-induced <span class="disease" id="20034406-0-100-118">status epilepticus</span>. | CTD_human |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | glioblastoma | 2668 | GDNF | GDNF | CTD_human | 19,138,852 | Pre-treatment of glioblastoma cell lines with GDNF but not the alternative ligand neurturin, promoted mitogenic behaviour and conferred chemoresistance to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU). | 0.201099 | Pre-treatment of <span class="disease" id="19138852-6-17-29">glioblastoma</span> cell lines with <span class="gene" id="19138852-6-46-50">GDNF</span> but not the alternative ligand neurturin, promoted mitogenic behaviour and conferred chemoresistance to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU). | CTD_human |
null | null | Negative | MESH:D013119 | null | null | spinal cord injury | 314322 | null | c-Fos | null | 28,024,908 | significantly relieved the central neuropathic pain induced by spinal cord injury (SCI), and inhibited c-Fos expression in lumbar (L) 4-L5 spinal segments. | null | null | null |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 3481 | IGF2 | insulin-like-growth factor II | CTD_human | 16,092,956 | Characterization of insulin-like-growth factor II (IGF II) mRNA positive hepatic altered foci and IGF II expression in hepatocellular carcinoma during diethylnitrosamine-induced hepatocarcinogenesis in rats. | 0.433914 | Characterization of <span class="gene" id="16092956-0-20-49">insulin-like-growth factor II</span> (IGF II) mRNA positive hepatic altered foci and IGF II expression in <span class="disease" id="16092956-0-119-143">hepatocellular carcinoma</span> during diethylnitrosamine-induced hepatocarcinogenesis in rats. | CTD_human;HPO |
6 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 4524 | MTHFR | MTHFR | CTD_human | 17,074,966 | The authors performed a meta-analysis of studies examining the association between polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, including MTHFR C677T and A1298C, and common psychiatric disorders, including unipolar depression, anxiety disorders, bipolar disorder, and schizophrenia. | 0.420798 | The authors performed a meta-analysis of studies examining the association between polymorphisms in the 5,10-methylenetetrahydrofolate reductase (<span class="gene" id="17074966-1-146-151">MTHFR</span>) gene, including MTHFR C677T and A1298C, and common psychiatric disorders, including unipolar depression, anxiety disorders, <span class="disease" id="17074966-1-277-293">bipolar disorder</span>, and schizophrenia. | CTD_human;PSYGENET |
null | null | Negative | MESH:D003866 | null | null | depression | 310218 | null | CA1 | null | 28,104,085 | METHODS: To model endogenous plasticity we induced long-term potentiation (LTP) and depression (LTD) at Schaffer collateral synapses in CA1 of rat hippocampal slices. | null | null | null |
null | null | Negative | MESH:D018205 | null | null | white adipose tissue | 18576 | null | PDE3B | null | 28,084,425 | In epididymal white adipose tissue (eWAT) of PDE3B KO mice on a SvJ129 background, cAMP/protein kinase A (PKA) and AMP-activated protein kinase (AMPK) signaling pathways are activated, resulting in "browning" phenotype, with a smaller increases in body weight under high-fat diet, smaller fat deposits, increased b-oxidation of fatty acids (FAO) and oxygen consumption. | null | null | null |
5 | 0 | Biomarker | C0242350 | Erectile dysfunction | disease | impotence | 5617 | PRL | prolactin | CTD_human | 4,001,434 | The patients who developed impotence were maintained on higher doses of sulpiride and exhibited higher prolactin levels in comparison to the potent patients. | 0.200275 | The patients who developed <span class="disease" id="4001434-5-27-36">impotence</span> were maintained on higher doses of sulpiride and exhibited higher <span class="gene" id="4001434-5-103-112">prolactin</span> levels in comparison to the potent patients. | CTD_human |
null | null | Negative | MESH:D006130 | null | null | HGF | 24848 | null | TPH | null | 28,049,228 | An attenuated Salmonella typhimurium that stably expressed high HGF (named as TPH) was constructed, and the antiulcerogenic effect of TPH was evaluated in a rat model of gastric ulcers that created by acetic acid subserosal injection. | null | null | null |
1 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 10280 | SIGMAR1 | sigma-1 receptor | CTD_human | 24,885,036 | Lack of synergistic effect of resveratrol and sigma-1 receptor agonist (PRE-084) in SOD1G?³A ALS mice: overlapping effects or limited therapeutic opportunity? | 0.402198 | Lack of synergistic effect of resveratrol and <span class="gene" id="24885036-0-46-62">sigma-1 receptor</span> agonist (PRE-084) in SOD1G?³A <span class="disease" id="24885036-0-93-96">ALS</span> mice: overlapping effects or limited therapeutic opportunity? | CTD_human;HPO |
null | null | Negative | MESH:D009369 | null | null | tumor | 67997 | null | DDX59 | null | 28,090,355 | DDX59 knockdown reduced cell proliferation, anchorage-independent cell growth, and caused reduction of tumor formation in immunocompromised mice. | null | null | null |
null | null | Negative | MESH:C565957 | null | null | ALS | 20655 | null | SOD1 | null | 28,057,013 | BACKGROUND: Dominant mutations in Cu/Zn-superoxide dismutase (SOD1) gene cause a familial form of amyotrophic lateral sclerosis (SOD1-ALS) with accumulation of misfolded SOD1 proteins as intracellular inclusions in spinal motor neurons. | null | null | null |
null | null | Negative | MESH:D006509 | null | null | hepatitis E virus ORF2 | 400668 | null | ORF2-NSP4 | null | 28,138,375 | OBJECTIVES: The aim of this study was designing a recombinant hepatitis E virus ORF2 and Rotavirus NSP4 (ORF2-NSP4) and to evaluating construction these recombinant proteins in the BES. | null | null | null |
1 | 0 | Biomarker | C1691228 | Cystic Kidney Diseases | group | cystic kidney disease | 79633 | FAT4 | Fat4 | CTD_human | 18,604,206 | Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease. | 0.2 | Loss of <span class="gene" id="18604206-0-8-12">Fat4</span> disrupts PCP signaling and oriented cell division and leads to <span class="disease" id="18604206-0-76-97">cystic kidney disease</span>. | CTD_human |
null | null | Negative | MESH:D004194 | null | null | residual disease | 94025 | null | CA125 | null | 28,023,688 | Complete SCR was associated with six variables: FIGO stage (OR=1.32), residual disease after primary cytoreduction (OR=1.69), progression-free interval (OR=2.27), ECOG performance status (OR=2.23), CA125 (OR=1.85) and ascites at recurrence (OR=2.79). | null | null | null |
2 | 0 | Therapeutic | C0878773 | Overactive Bladder | disease | OAB | 8989 | TRPA1 | TRPA1 | CTD_human | 21,367,919 | The present data show that the TRPA1 activation and upregulation seem to exert an important role in OAB following SCI. | 0.28 | The present data show that the <span class="gene" id="21367919-10-31-36">TRPA1</span> activation and upregulation seem to exert an important role in <span class="disease" id="21367919-10-100-103">OAB</span> following SCI. | CTD_human |
1 | 0 | Biomarker | C0021390 | Inflammatory Bowel Diseases | group | inflammatory bowel disease | 11186 | RASSF1 | Rassf1a | CTD_human | 24,146,755 | Rassf1a knockout mice displayed clinical symptoms of inflammatory bowel disease including: increased intestinal permeability, enhanced cytokine/chemokine production, elevated nuclear factor of kappa light polypeptide gene enhancer in B-cells (NF?B) activity, elevated colonic cell death and epithelial cell injury. | 0.2 | <span class="gene" id="24146755-3-0-7">Rassf1a</span> knockout mice displayed clinical symptoms of <span class="disease" id="24146755-3-53-79">inflammatory bowel disease</span> including: increased intestinal permeability, enhanced cytokine/chemokine production, elevated nuclear factor of kappa light polypeptide gene enhancer in B-cells (NFκB) activity, elevated colonic cell death and epithelial cell injury. | CTD_human |
1 | 3 | Biomarker | C0007193 | Cardiomyopathy, Dilated | group | dilated cardiomyopathy | 7137 | TNNI3 | TNNI3 | CTD_human | 15,070,570 | We used mutation analysis suitable for identification of both dominant and recessive mutations to investigate the sarcomeric gene for cardiac troponin I (TNNI3) in 235 patients with dilated cardiomyopathy. | 0.418223 | We used mutation analysis suitable for identification of both dominant and recessive mutations to investigate the sarcomeric gene for <span class="gene" id="15070570-3-134-152">cardiac troponin I</span> (<span class="gene" id="15070570-3-154-159">TNNI3</span>) in 235 patients with <span class="disease" id="15070570-3-182-204">dilated cardiomyopathy</span>. | CTD_human;HPO |
null | null | Negative | MESH:D001265 | null | null | athletes | 5621 | null | PRP | null | 28,002,896 | This randomized controlled trial aims to investigate the effect of intra-articular Hybrid Hyaluronic Acid injections compared to PRP for the treatment of cartilage lesions among athletes at the end of their career. | null | null | null |
null | null | Negative | MESH:D008107 | null | null | liver regeneration | 72289 | null | MALAT1 | null | 28,075,444 | The present study was designed to investigate the biological role of lncRNA MALAT1 in liver regeneration. | null | null | null |
null | null | Negative | MESH:D007674 | null | null | kidney fibrosis | 19264 | null | CD45 | null | 28,052,876 | Our studies demonstrate local synthesis of complement by both PDGFRb-positive pericytes and CD45-positive cells in kidney fibrosis. | null | null | null |
3 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmune condition | 2091 | FBL | fibrillarin | CTD_human | 19,077,085 | Treatment with gold in the form of aurothiomaleate, silver or mercury (Hg) in genetically susceptible mouse strains (H-2(s)) induces a systemic autoimmune condition characterized by anti-nuclear antibodies targeting the 34-kDa nucleolar protein fibrillarin, as well as lymphoproliferation and systemic immune-complex (IC) deposits. | 0.200275 | Treatment with gold in the form of aurothiomaleate, silver or mercury (Hg) in genetically susceptible mouse strains (H-2(s)) induces a systemic <span class="disease" id="19077085-1-144-164">autoimmune condition</span> characterized by anti-nuclear antibodies targeting the 34-kDa nucleolar protein <span class="gene" id="19077085-1-245-256">fibrillarin</span>, as well as lymphoproliferation and systemic immune-complex (IC) deposits. | CTD_human |
null | null | Negative | MESH:D009410 | null | null | neuronal apoptosis | 12367 | null | caspase -3 | null | 28,000,893 | In addition, CA3 neurons in the HFD group indicated apparent injuries and increased neuronal apoptosis, which are associated with the expression of Bcl -2, Bax, and caspase -3. | null | null | null |
null | null | Negative | MESH:D050031 | null | null | Hashimoto thyroiditis | 596 | null | Bcl-2 | null | 28,187,375 | PURPOSE: To investigate whether the oxidative stress is involved in the evolution of Graves' disease (GD) and Hashimoto thyroiditis (HT) into Papillary Thyroid Carcinoma (PTC), 8-hydroxy-2'-deoxyguanosine (8-OHdG) and cancer related proteins (Bcl-2, p53 and Ki-67) expressions were evaluated in these pathologies. | null | null | null |
1 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumors | 1958 | EGR1 | EGR1 | CTD_human | 16,552,752 | In many prostate tumors, the activity of the transcription factor EGR1 (early growth response gene 1) is elevated due to overexpression of EGR1 and/or downregulation of the co-repressor, NAB2. | 0.210397 | In many <span class="disease" id="16552752-3-8-23">prostate tumors</span>, the activity of the transcription factor <span class="gene" id="16552752-3-66-70">EGR1</span> (early growth response gene 1) is elevated due to overexpression of <span class="gene" id="16552752-3-139-143">EGR1</span> and/or downregulation of the co-repressor, NAB2. | CTD_human |
null | null | Negative | MESH:C567886 | null | null | XPC | 2071 | null | ERCC3 | null | 28,115,302 | Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5). | null | null | null |
1 | 0 | Biomarker | C0752347 | Lewy Body Disease | disease | DLB | 4803 | NGF | nerve growth factor | CTD_human | 19,276,553 | IGF-I and IGF-II resistance was present in DLB but not PD frontal cortex, and associated with reduced expression of Hu, nerve growth factor, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity. | 0.200275 | IGF-I and IGF-II resistance was present in <span class="disease" id="19276553-4-43-46">DLB</span> but not PD frontal cortex, and associated with reduced expression of Hu, <span class="gene" id="19276553-4-120-139">nerve growth factor</span>, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity. | CTD_human |
5 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 7124 | TNF | tumor necrosis factor | CTD_human | 12,356,572 | Role of tumor necrosis factor in toluene diisocyanate asthma. | 0.350679 | Role of <span class="gene" id="12356572-0-8-29">tumor necrosis factor</span> in toluene diisocyanate <span class="disease" id="12356572-0-54-60">asthma</span>. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | Breast Cancer | 13866 | null | HER2 | null | 28,087,106 | Trastuzumab is a humanized monoclonal antibody (mAb) employed for the treatment of HER2 Positive Breast Cancer. | null | null | null |
2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 407041 | MIR34B | miR-34b | CTD_human | 21,339,737 | A microRNA, miR-34b, that suppresses the expression of ?4 through specific binding to the 3'-untranslated region of ?4 is downregulated in transformed or human lung tumors. | 0.200275 | A microRNA, <span class="gene" id="21339737-7-12-19">miR-34b</span>, that suppresses the expression of α4 through specific binding to the 3'-untranslated region of α4 is downregulated in transformed or human <span class="disease" id="21339737-7-160-171">lung tumors</span>. | CTD_human |
8 | 5 | Biomarker | C0015306 | Hereditary Multiple Exostoses | disease | MO | 2131 | EXT1 | Ext1 | CTD_human | 20,080,592 | Mice heterozygous for Ext1 or Ext2, modeling the human genotypes that cause MO, occasionally develop solitary osteochondroma-like structures on ribs [Lin et al. | 0.738359 | Mice heterozygous for <span class="gene" id="20080592-3-22-26">Ext1</span> or Ext2, modeling the human genotypes that cause <span class="disease" id="20080592-3-76-78">MO</span>, occasionally develop solitary osteochondroma-like structures on ribs [Lin et al. | CTD_human;HPO;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0023418 | leukemia | disease | leukemia | 2246 | FGF1 | FGF1 | CTD_human | 17,219,402 | Zebrafish fgf1 is syntenic to human FGF1, which maps to a critically deleted region in human del(5q) syndrome posing an increased risk of leukemia to patients. | 0.200275 | Zebrafish <span class="gene" id="17219402-7-10-14">fgf1</span> is syntenic to human <span class="gene" id="17219402-7-36-40">FGF1</span>, which maps to a critically deleted region in human del(5q) syndrome posing an increased risk of <span class="disease" id="17219402-7-138-146">leukemia</span> to patients. | CTD_human |
null | null | Negative | MESH:D009103 | null | null | MS | 51029 | null | DESI | null | 28,112,301 | UNASSIGNED: Analysis of neurological smears by desorption electrospray ionization mass spectrometry (DESI-MS) is an emerging diagnostic strategy for intraoperative consultation in brain tumor resection. | null | null | null |
1 | 0 | Therapeutic | C0020443 | Hypercholesterolemia | disease | hypercholesterolemia | 1581 | CYP7A1 | cholesterol 7 alpha-hydroxylase | CTD_human | 8,245,718 | Bile acid excretion and cholesterol 7 alpha-hydroxylase expression in hypercholesterolemia-resistant rabbits. | 0.407771 | Bile acid excretion and <span class="gene" id="8245718-0-24-55">cholesterol 7 alpha-hydroxylase</span> expression in <span class="disease" id="8245718-0-70-90">hypercholesterolemia</span>-resistant rabbits. | CTD_human;HPO |
1 | 0 | Biomarker | C0027430 | Nasal Polyps | disease | nasal polyps | 4254 | KITLG | SCF | CTD_human | 15,813,808 | For the whole group of patients, the number of polypectomies correlated with expression of SCF mRNA (r = 0.62; P < 0.005), SCF protein in the NPECs supernatants (r = 0.39; P < 0.05) and with density of mast cells in epithelial layer (r = 0.37; P < 0.05) and stromal layer (r = 0.5; P < 0.01) of nasal polyps. | 0.200549 | For the whole group of patients, the number of polypectomies correlated with expression of SCF mRNA (r = 0.62; P < 0.005), <span class="gene" id="15813808-6-123-126">SCF</span> protein in the NPECs supernatants (r = 0.39; P < 0.05) and with density of mast cells in epithelial layer (r = 0.37; P < 0.05) and stromal layer (r = 0.5; P < 0.01) of <span class="disease" id="15813808-6-295-307">nasal polyps</span>. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | autosomal recessive disease | 472 | null | Atm | null | 28,007,901 | UNASSIGNED: Ataxia-telangiectasia (A-T), an autosomal recessive disease caused by mutations in the ATM gene is characterised by cerebellar atrophy and progressive neurodegeneration which has been poorly recapitulated in Atm mutant mice. | null | null | null |
null | null | Negative | MESH:C565169 | null | null | C3-deficient | 12273 | null | C5aR | null | 28,045,880 | IgM and C3d colocalized within allografts from wild type and C3aR/C5aR-deficient recipients indicating IgM-mediated complement activation, and C3d deposition was almost absent in allografts from C3-deficient and CR2-Crry-treated recipients. | null | null | null |
2 | 0 | Therapeutic | C1458155 | Mammary Neoplasms | group | breast tumors | 2886 | GRB7 | GRB7 | CTD_human | 19,075,277 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. | 0.203282 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, <span class="gene" id="19075277-3-69-73">GRB7</span>, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive <span class="disease" id="19075277-3-142-155">breast tumors</span> using quantitative reverse-transcriptase polymerase chain reaction. | CTD_human |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 1012 | CDH13 | CDH13 | CTD_human | 18,337,602 | In a multivariate model, promoter methylation of the cyclin-dependent kinase inhibitor 2A gene p16, the H-cadherin gene CDH13, the Ras association domain family 1 gene RASSF1A, and the adenomatous polyposis coli gene APC in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of NSCLC stage, age, sex, race, smoking history, and histologic characteristics of the tumor. | 0.201923 | In a multivariate model, promoter methylation of the cyclin-dependent kinase inhibitor 2A gene p16, the <span class="gene" id="18337602-5-104-114">H-cadherin</span> gene <span class="gene" id="18337602-5-120-125">CDH13</span>, the Ras association domain family 1 gene RASSF1A, and the adenomatous polyposis coli gene APC in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of <span class="disease" id="18337602-5-335-340">NSCLC</span> stage, age, sex, race, smoking history, and histologic characteristics of the tumor. | CTD_human |
1 | 0 | Biomarker | C0011581 | Depressive disorder | disease | depressive disorders | 5444 | PON1 | PON1 | CTD_human | 19,272,368 | Decreased PON1 and ghrelin levels as well as fluctuations in lipid profiles may be involved in the etiology of depressive disorders. | 0.401099 | Decreased <span class="gene" id="19272368-8-10-14">PON1</span> and ghrelin levels as well as fluctuations in lipid profiles may be involved in the etiology of <span class="disease" id="19272368-8-111-131">depressive disorders</span>. | CTD_human;HPO |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 7436 | VLDLR | VLDLR | CTD_human | 15,820,235 | Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor VLDLR mRNA demonstrate impairments in the Reelin signaling system in autism, accounting for some of the brain structural and cognitive deficits observed in the disorder. | 0.200549 | Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor <span class="gene" id="15820235-8-85-90">VLDLR</span> mRNA demonstrate impairments in the Reelin signaling system in <span class="disease" id="15820235-8-154-160">autism</span>, accounting for some of the brain structural and cognitive deficits observed in the disorder. | CTD_human |
6 | 2 | Therapeutic | C2239176 | Liver carcinoma | disease | hepatocellular carcinomas | 7157 | TP53 | p53 | CTD_human | 18,477,611 | We have therefore generated 'knock-in' mouse embryonic stem (ES) cells to investigate the effects of expressing a commonly found hot-spot p53 mutant, R246S -- the mouse equivalent of human R249S, which is associated with hepatocellular carcinomas. | 0.672301 | We have therefore generated 'knock-in' mouse embryonic stem (ES) cells to investigate the effects of expressing a commonly found hot-spot <span class="gene" id="18477611-4-138-141">p53</span> mutant, R246S -- the mouse equivalent of human R249S, which is associated with <span class="disease" id="18477611-4-221-246">hepatocellular carcinomas</span>. | CTD_human;HPO |
1 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | APL | 2152 | F3 | TF | CTD_human | 16,206,674 | Abnormal high expression of TF in APL cell was downregulated in patients treated with ATRA or As2O3. | 0.203571 | Abnormal high expression of <span class="gene" id="16206674-7-28-30">TF</span> in <span class="disease" id="16206674-7-34-37">APL</span> cell was downregulated in patients treated with ATRA or As2O3. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrotic | 27045 | null | NIT-1 | null | 28,004,006 | Here we observed that atorvastatin (AS) can increase intracellular reactive oxygen species (ROS) and induce necrotic cell death and autophagy in NIT-1 cells, whereas pravastatin (PS) does not cause ROS and cell death but also induces autophagy. | null | null | null |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 54715 | RBFOX1 | FOX1 | CTD_human | 17,503,474 | Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. | 0.202198 | Cytogenetic and molecular characterization of A2BP1/<span class="gene" id="17503474-0-52-56">FOX1</span> as a candidate gene for <span class="disease" id="17503474-0-81-87">autism</span>. | CTD_human |
null | null | Negative | MESH:D014517 | null | null | UUO | 107527 | null | IL-36 receptor | null | 28,179,433 | In contrast, the kidneys of IL-36 receptor (IL-36R) knockout mice exhibit attenuated TILs after UUO. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 17345 | null | Ki67 | null | 28,100,275 | Four consecutive cancer sections were stained with antibodies specific for E-cadherin for CIC detection, cleaved caspase-3 for apoptosis, H3K9Me for senescence and Ki67 as a proliferation marker. | null | null | null |
1 | 0 | Biomarker | C0042870 | Vitamin D Deficiency | disease | vitamin D deficiency | 4036 | LRP2 | Megalin | CTD_human | 10,052,453 | Megalin-/- mice are unable to retrieve the steroid from the glomerular filtrate and develop vitamin D deficiency and bone disease. | 0.200275 | <span class="gene" id="10052453-5-0-7">Megalin</span>-/- mice are unable to retrieve the steroid from the glomerular filtrate and develop <span class="disease" id="10052453-5-92-112">vitamin D deficiency</span> and bone disease. | CTD_human |
null | null | Negative | MESH:D020159 | null | null | TS | 2099 | null | estrogen receptor | null | 28,023,232 | Levels of TTF1, TS, folate receptor (FR), FPGS, estrogen receptor (ER), RRM1, EGFR and PTEN were assessed using immunohistochemistry assays from Ventana Medical Systems. | null | null | null |
null | null | Negative | MESH:D012769 | null | null | heat shock | 30591 | null | HSP90 | null | 28,089,856 | After chronic (100d) acclimation of fish to 5, 15 and 25 C, triploid erythrocytes had lower HSP70, HSP90, heat shock factor 1 (HSF1) and ubiquitin (free and total) levels than diploids in both species. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | CRA | 14460 | null | GATA-1 | null | 28,052,733 | Our results demonstrated that either MSCs or its subpopulation could effectively recover CRA erythropoiesis through GATA-1/GATA-2 signaling, which outstrips the traditional symptomatic therapy. | null | null | null |
null | null | Negative | MESH:D015223 | null | null | liposomes | 348 | null | apolipoprotein E | null | 28,008,255 | UNASSIGNED: b-Amyloid (Ab)-targeting liposomes (LIP) with surface serotonin modulator (SM) and apolipoprotein E (ApoE) were utilized to facilitate the delivery of nerve growth factor (NGF) across the blood-brain barrier (BBB) for neuroprotection in the hippocampus. | null | null | null |
1 | 0 | Biomarker | C1850343 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME | disease | mosaic variegated aneuploidy syndrome | 9702 | CEP57 | CEP57 | CTD_human | 21,552,266 | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | 0.400549 | Mutations in <span class="gene" id="21552266-0-13-18">CEP57</span> cause <span class="disease" id="21552266-0-25-62">mosaic variegated aneuploidy syndrome</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | RA | 3239 | HOXD13 | HOXD13 | CTD_human | 17,568,789 | HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA. | 0.200275 | HOXD10, HOXD11, <span class="gene" id="17568789-4-16-22">HOXD13</span>, CCL8 and LIM homeobox 2 were highly and exclusively expressed in <span class="disease" id="17568789-4-89-91">RA</span> and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA. | CTD_human |
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