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null | null | Negative | MESH:D012909 | null | null | envenomation | 2187 | null | Fab | null | 28,165,801 | BACKGROUND: Western Pygmy Rattlesnake (WPR) envenomation reportedly causes refractory and persistent coagulopathy when treated with CroFab( ) (Crotalidae Polyvalent Immune Fab). | null | null | null |
4 | 1 | Biomarker | C0043459 | Zellweger Syndrome | disease | ZS | 5192 | PEX10 | PEX10 | CTD_human | 10,862,081 | All four PEX10-deficient Zellweger Syndrome (ZS) patients were found to have nonsense, frameshift, or splice site mutations that remove large portions of the PEX10 coding region. | 0.400275 | All four <span class="gene" id="10862081-4-9-14">PEX10</span>-deficient <span class="disease" id="10862081-4-25-43">Zellweger Syndrome</span> (<span class="disease" id="10862081-4-45-47">ZS</span>) patients were found to have nonsense, frameshift, or splice site mutations that remove large portions of the <span class="gene" id="10862081-4-158-163">PEX10</span> coding region. | CTD_human;ORPHANET |
4 | 0 | Biomarker | C0023903 | Liver neoplasms | group | liver tumors | 9970 | NR1I3 | CAR | CTD_human | 24,449,422 | Phenobarbital (PB) is a prototypical nongenotoxic carcinogen that activates the constitutive androstane receptor (CAR) resulting in rodent liver tumors. | 0.200824 | Phenobarbital (PB) is a prototypical nongenotoxic carcinogen that activates the <span class="gene" id="24449422-2-80-112">constitutive androstane receptor</span> (<span class="gene" id="24449422-2-114-117">CAR</span>) resulting in rodent <span class="disease" id="24449422-2-139-151">liver tumors</span>. | CTD_human |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 15289 | null | HMGB1 | null | 28,025,989 | Furthermore, knockdown of HMGB1 enhanced cell proliferation whereas it inhibited the apoptosis and fibrosis of M6200 cells. | null | null | null |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 4293 | MAP3K9 | MAP3K9 | CTD_human | 22,197,930 | Attenuation of MAP3K9 function in melanoma cells using siRNA led to increased cell viability after temozolomide treatment, suggesting that decreased MAP3K pathway activity can lead to chemoresistance in melanoma. | 0.200549 | Attenuation of <span class="gene" id="22197930-7-15-21">MAP3K9</span> function in <span class="disease" id="22197930-7-34-42">melanoma</span> cells using siRNA led to increased cell viability after temozolomide treatment, suggesting that decreased MAP3K pathway activity can lead to chemoresistance in <span class="disease" id="22197930-7-203-211">melanoma</span>. | CTD_human |
6 | 11 | Biomarker | C1845862 | Creatine deficiency, X-linked | disease | X-linked creatine deficiency syndrome | 6535 | SLC6A8 | SLC6A8 | CTD_human | 12,210,795 | X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. | 0.68522 | <span class="disease" id="12210795-0-0-37">X-linked creatine deficiency syndrome</span>: a novel mutation in <span class="gene" id="12210795-0-59-79">creatine transporter</span> gene <span class="gene" id="12210795-0-85-91">SLC6A8</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D005870 | null | null | giant cell tumors | 8626 | null | p63 | null | 28,059,095 | Mutational status was compared with clinical data and, for giant cell tumors of the bone, with p63 immunostaining status. | null | null | null |
1 | 0 | Biomarker | C0006118 | Brain Neoplasms | group | brain tumours | 23411 | SIRT1 | Sirt-1 | CTD_human | 22,523,472 | Tissue scan microarray analysis of grade I-IV brain tumours cDNA revealed increased gene expression of Sirt-1 from grade I-III but surprisingly not in grade IV brain tumours. | 0.2 | Tissue scan microarray analysis of grade I-IV <span class="disease" id="22523472-6-46-59">brain tumours</span> cDNA revealed increased gene expression of <span class="gene" id="22523472-6-103-109">Sirt-1</span> from grade I-III but surprisingly not in grade IV <span class="disease" id="22523472-6-160-173">brain tumours</span>. | CTD_human |
null | null | Negative | MESH:D029424 | null | null | chronic obstructive pulmonary disease | 260431 | null | COPD | null | 28,182,569 | Acute exacerbations of chronic obstructive pulmonary disease (COPD) can be prevented by inhaled treatment. | null | null | null |
2 | 0 | Therapeutic | C0020619 | Hypogonadism | disease | hypogonadism | 3952 | LEP | leptin | CTD_human | 15,070,752 | Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. | 0.481099 | Phenotypic effects of <span class="gene" id="15070752-0-22-28">leptin</span> replacement on morbid obesity, diabetes mellitus, <span class="disease" id="15070752-0-79-91">hypogonadism</span>, and behavior in <span class="gene" id="15070752-0-109-115">leptin</span>-deficient adults. | CTD_human;HPO |
1 | 0 | Biomarker | C1609433 | Congenital absence of kidneys syndrome | disease | bilateral renal agenesis | 5979 | RET | RET | CTD_human | 18,252,215 | Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis. | 0.401374 | Mutations in <span class="gene" id="18252215-4-13-16">RET</span> were found in 7 of 19 fetuses with <span class="disease" id="18252215-4-52-76">bilateral renal agenesis</span> (37%) and 2 of 10 fetuses (20%) with unilateral agenesis. | CTD_human;ORPHANET |
4 | 0 | Biomarker | 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 |
4 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 847 | CAT | Catalase | CTD_human | 15,245,787 | Catalase activity in cerebellum, hippocampus, frontal cortex and striatum after status epilepticus induced by pilocarpine in Wistar rats. | 0.2 | <span class="gene" id="15245787-0-0-8">Catalase</span> activity in cerebellum, hippocampus, frontal cortex and striatum after <span class="disease" id="15245787-0-80-98">status epilepticus</span> induced by pilocarpine in Wistar rats. | CTD_human |
null | null | Negative | MESH:D029424 | null | null | chronic obstructive pulmonary disease | 260431 | null | COPD | null | 28,104,604 | Cigarette smoke usage is prevalent in human immunodeficiency virus (HIV)-positive patients, and, despite highly active antiretroviral therapy, these individuals develop an accelerated form of chronic obstructive pulmonary disease (COPD). | null | null | null |
2 | 0 | Biomarker | C0004096 | Asthma | disease | asthmatics | 94103 | ORMDL3 | ORMDL3 | CTD_human | 25,256,354 | In summary, this study supports that there are differences in DNA methylation at this locus between asthmatics and controls; and both SNPs and CpG sites are independently associated with ORMDL3 expression. | 0.249823 | In summary, this study supports that there are differences in DNA methylation at this locus between <span class="disease" id="25256354-11-100-110">asthmatics</span> and controls; and both SNPs and CpG sites are independently associated with <span class="gene" id="25256354-11-187-193">ORMDL3</span> expression. | CTD_human |
null | null | Negative | MESH:D013789 | null | null | thalassemia | 1727 | null | b5R | null | 28,016,992 | We proposed that common African-American genetic polymorphisms such as G6PD A+, G6PD A-, African polymorphism of b5R, a thalassemia, and sickle trait could influence the development and course of this malignant disease. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 16193 | null | IL-6 | null | 28,134,325 | In addition to IL-4, basophils produce IL-6 and tumor necrosis factor (TNF)-a in response to immunoglobulin E (IgE) crosslinking. | null | null | null |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 4313 | MMP2 | matrix metalloproteinase-2 | CTD_human | 16,872,482 | Macrophage migration inhibitory factor: a mediator of matrix metalloproteinase-2 production in rheumatoid arthritis. | 0.212492 | Macrophage migration inhibitory factor: a mediator of <span class="gene" id="16872482-0-54-80">matrix metalloproteinase-2</span> production in <span class="disease" id="16872482-0-95-115">rheumatoid arthritis</span>. | CTD_human |
4 | 0 | Biomarker | C0376634 | Craniofacial Abnormalities | group | craniofacial abnormalities | 4487 | MSX1 | Msx1 | CTD_human | 14,654,219 | The Msx1 gene controls many aspects of craniofacial development, as evidenced by craniofacial abnormalities seen in Msx1(-/-) mice, including the arrest of tooth development and the absence of the alveolar bone. | 0.200275 | The <span class="gene" id="14654219-4-4-8">Msx1</span> gene controls many aspects of craniofacial development, as evidenced by <span class="disease" id="14654219-4-81-107">craniofacial abnormalities</span> seen in <span class="gene" id="14654219-4-116-120">Msx1</span>(-/-) mice, including the arrest of tooth development and the absence of the alveolar bone. | CTD_human |
null | null | Negative | MESH:C536352 | null | null | staphyloma | 875703 | null | mg/0.05 | null | 28,203,196 | Four consecutive, monthly injections of bevacizumab (1.25 mg/0.05 mL) were administered in the left eye; subsequently, the subretinal fluid gradually dissipated from the macula and became localized at the superior border of the staphyloma. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | stable disease | 2247 | null | FGF2 | null | 28,022,551 | Pts with RECIST response continued on open-label B, those with progressive disease (PD) went off study, and those with stable disease (SD) were randomized 1:1 to B or placebo (P), stratified by FGF2 expression (IHC + or -), until PD or unacceptable toxicity. | null | null | null |
null | null | Negative | MESH:C580334 | null | null | UPS | 4311 | null | CD10 | null | 28,079,637 | OBJECTIVE: The authors aimed to identify the clinical, histologic, and immunohistochemical expression of LN2, ezrin, and CD10 in AFX and UPS tumors. | null | null | null |
1 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | CRF | 2168 | FABP1 | L-FABP | CTD_human | 19,878,707 | CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A. | 0.2 | <span class="disease" id="19878707-5-0-3">CRF</span> resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (<span class="gene" id="19878707-5-505-511">L-FABP</span>), and CPT1A. | CTD_human |
null | null | Negative | OMIM:113900 | null | null | PCCD | 79868 | null | ALG13 | null | 28,178,702 | Recently, we identified a missense variant (p.T141L) in the short isoform 2 of the X-linked gene asparagine-linked glycosylation 13 (ALG13-is2), which segregated with focal segmental glomerulosclerosis and PCCD in a large Australian pedigree; however, any evidence of its pathogenicity was demonstrated. | null | null | null |
null | null | Negative | MESH:D000012 | null | null | ABL | 207 | null | AKT | null | 28,136,611 | Out of the 2,702 validated peptide targets and 6,173 kinase-substrate nodes we compiled, we chose a subset of 151 biological peptides predicted to specifically report on tyrosine / serine / threonine kinases, including EGFR, ERK, AKT, SRC, ABL. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 18024 | null | Nrf2 | null | 28,161,195 | CRS and ARS up-regulated mRNA levels of inflammation-related molecules (TNFa, IL-1b, IL-6 and TLR4) and oxidative stress molecules (gp91phox, iNOS and Nrf2) in the mouse hypothalamus. | null | null | null |
null | null | Negative | MESH:D007511 | null | null | ischemia | 20346 | null | Sema3A | null | 28,013,333 | However, there is no known correlation between Sema3A and intestinal ischemia/reperfusion (I/R) injury. | null | null | null |
4 | 0 | Biomarker | C0007370 | Catalepsy | disease | catalepsy | 1813 | DRD2 | dopamine D2 receptor | CTD_human | 7,845,605 | In the catalepsy test, felbamate antagonized dopamine D2 receptor- but not D1 receptor-induced akinesia. | 0.2 | In the <span class="disease" id="7845605-2-7-16">catalepsy</span> test, felbamate antagonized <span class="gene" id="7845605-2-45-65">dopamine D2 receptor</span>- but not D1 receptor-induced akinesia. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 16193 | null | IL-6 | null | 28,174,688 | LPS induced kidney dysfunction via activation of NF-kB and mitogen-activated protein kinases (MAPKs), by excessive production of IL-6, tumor necrosis factor-a, inducible nitric oxide synthase, and COX-2, producing perturbance in energy metabolism and oxidative stress. | null | null | null |
null | null | Negative | MESH:D064726 | null | null | triple-negative breast cancer | 57650 | null | CIP2A | null | 28,027,514 | We investigated the efficacy and mechanism of TD52, an erlotinib derivative with minimal p-EGFR inhibition but significant CIP2A downregulation, in triple-negative breast cancer (TNBC) cells. | null | null | null |
null | null | Negative | MESH:D014947 | null | null | trauma | 16193 | null | IL-6 | null | 28,114,167 | Thus, the objective of our study was to evaluate a dose-dependent therapeutic impact of leptin with possible IL-6-dependency on immune actions and outcome in a trauma/sepsis model. | null | null | null |
null | null | Negative | MESH:D001927 | null | null | brain damage | 25742 | null | S100b | null | 28,101,164 | The results showed that administration of PF for 28 days significantly decreased the expression levels of NSE and S100b, both sensitive markers for brain damage, in vascular dementia (VD) model rats. | null | null | null |
null | null | Negative | MESH:C535706 | null | null | MADB | 7431 | null | vimentin | null | 28,050,601 | Interestingly, the assembly of the vimentin microfibrils in MADB fibroblasts improved with rapamycin and dimethylsulfoxide. | null | null | null |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 3362 | HTR6 | 5-HT(6 | CTD_human | 12,165,372 | An RT-PCR study of 5-HT(6) and 5-HT(7) receptor mRNAs in the hippocampal formation and prefrontal cortex in schizophrenia. | 0.220197 | An RT-PCR study of <span class="gene" id="12165372-0-19-25">5-HT(6</span>) and 5-HT(7) receptor mRNAs in the hippocampal formation and prefrontal cortex in <span class="disease" id="12165372-0-108-121">schizophrenia</span>. | CTD_human |
2 | 0 | Biomarker | C0011881 | Diabetic Nephropathy | disease | diabetic nephropathy | 7040 | TGFB1 | transforming growth factor-beta 1 | CTD_human | 19,960,420 | Mangiferin significantly inhibited glomerular extracellular matrix expansion and accumulation and transforming growth factor-beta 1 overexpression in glomeruli of diabetic nephropathy rats. | 0.32647 | Mangiferin significantly inhibited glomerular extracellular matrix expansion and accumulation and <span class="gene" id="19960420-5-98-131">transforming growth factor-beta 1</span> overexpression in glomeruli of <span class="disease" id="19960420-5-163-183">diabetic nephropathy</span> rats. | CTD_human |
1 | 0 | Biomarker | C1531773 | Currarino triad | disease | Currarino syndrome | 5125 | PCSK5 | Pcsk5 | CTD_human | 18,519,639 | VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. | 0.200275 | VACTERL/caudal regression/<span class="disease" id="18519639-0-26-44">Currarino syndrome</span>-like malformations in mice with mutation in the proprotein convertase <span class="gene" id="18519639-0-115-120">Pcsk5</span>. | CTD_human |
4 | 1 | Biomarker | C0010308 | Congenital Hypothyroidism | disease | congenital hypothyroidism | 7173 | TPO | TPO | CTD_human | 14,751,036 | The objective of this study was to screen and subsequently identify TPO gene mutations in patients with congenital hypothyroidism with evidence of total iodine organification defects (TIOD) or partial iodine organification defect (PIOD) as defined by the perchlorate discharge test. | 0.220561 | The objective of this study was to screen and subsequently identify <span class="gene" id="14751036-2-68-71">TPO</span> gene mutations in patients with <span class="disease" id="14751036-2-104-129">congenital hypothyroidism</span> with evidence of total iodine organification defects (TIOD) or partial iodine organification defect (PIOD) as defined by the perchlorate discharge test. | CTD_human |
null | null | Negative | MESH:D015461 | null | null | T-PLL | 4843 | null | NOS | null | 28,129,454 | These two diseases can often be confused with each other; therefore, we aimed to determine the clinical and pathological differences between T-PLL and PTCL, NOS. | null | null | null |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | Angiotensin II | CTD_human | 12,084,390 | The aim of this study was to investigate the effects of Angiotensin II (ANG II) receptor antagonist losartan on the blood-brain barrier (BBB) permeability in L-NAME-induced hypertension and/or in ANG II-induced acute hypertension in normotensive and hypertensive rats. | 0.52 | The aim of this study was to investigate the effects of <span class="gene" id="12084390-2-56-70">Angiotensin II</span> (ANG II) receptor antagonist losartan on the blood-brain barrier (BBB) permeability in L-NAME-induced <span class="disease" id="12084390-2-173-185">hypertension</span> and/or in ANG II-induced acute <span class="disease" id="12084390-2-217-229">hypertension</span> in normotensive and hypertensive rats. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 20296 | null | monocyte chemotactic protein-1 | null | 28,109,017 | The messenger RNA levels of monocyte chemotactic protein-1 and tumor necrosis factor-a in the liver and epididymal fat tissue were increased in the HFD group compared with the control group and were downregulated in the HFD + CB group. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | stable disease | 2247 | null | FGF2 | null | 28,021,070 | Pts with stable disease (SD) were randomized 1:1 to B or placebo (P), stratified by FGF2 expression (IHC + or -), until PD or unacceptable toxicity. | null | null | null |
null | null | Negative | MESH:D011502 | null | null | HCD | 3569 | null | interleukin-6 | null | 28,193,578 | We observed elevated colonic mucosal interleukin-6 (IL-6) expression in HCD-consuming pigs compared to standard diet controls (SD, P=.04), and IL-6 strongly correlated with Ki-67 proliferative index and zone, early biomarkers of colon cancer risk (r=0.604 and 0.743 and P=.017 and .002, respectively). | null | null | null |
null | null | Negative | MESH:D009101 | null | null | MM | 9622;51155 | null | arms 1 and 2 | null | 28,016,923 | METHODS: Patients with symptomatic Durie-Salmon stage I, or stage II/III previously untreated MM were randomized to one of 2 induction regimens given for 12 cycles: arms 1 and 2 -melphalan 9mg/m2 po and prednisone 100 mg po daily for 4 days q 4 weeks; arms 3 and 4 - melphalan as above and DEX 40 mg for 4 days q 4 weeks. | null | null | null |
1 | 0 | Biomarker | C0162671 | MELAS Syndrome | disease | MELAS syndrome | 4574 | TRNS1 | MTTS1 | CTD_human | 17,894,844 | MELAS syndrome in a patient with a point mutation in MTTS1. | 0.400275 | <span class="disease" id="17894844-0-0-14">MELAS syndrome</span> in a patient with a point mutation in <span class="gene" id="17894844-0-53-58">MTTS1</span>. | CTD_human;ORPHANET |
4 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 2571 | GAD1 | GAD1 | CTD_human | 17,942,719 | Alterations in schizophrenia included decreased GAD1 expression and H3K4-trimethylation, predominantly in females and in conjunction with a risk haplotype at the 5' end of GAD1. | 0.246224 | Alterations in <span class="disease" id="17942719-3-15-28">schizophrenia</span> included decreased <span class="gene" id="17942719-3-48-52">GAD1</span> expression and H3K4-trimethylation, predominantly in females and in conjunction with a risk haplotype at the 5' end of <span class="gene" id="17942719-3-172-176">GAD1</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 18126 | null | iNOS | null | 28,161,195 | CRS and ARS up-regulated mRNA levels of inflammation-related molecules (TNFa, IL-1b, IL-6 and TLR4) and oxidative stress molecules (gp91phox, iNOS and Nrf2) in the mouse hypothalamus. | null | null | null |
1 | 0 | Biomarker | C0026764 | Multiple Myeloma | disease | multiple myeloma | 1029 | CDKN2A | p16 | CTD_human | 16,008,847 | [Hypermethylation of CpG island of p16 gene and arsenic trioxide induced p16 gene demethylation in multiple myeloma]. | 0.215081 | [Hypermethylation of CpG island of <span class="gene" id="16008847-0-35-38">p16</span> gene and arsenic trioxide induced <span class="gene" id="16008847-0-73-76">p16</span> gene demethylation in <span class="disease" id="16008847-0-99-115">multiple myeloma</span>]. | CTD_human |
2 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 3383 | ICAM1 | ICAM1 | CTD_human | 25,003,170 | Both ICAM1 and ETS, and interactions between these two factors are likely to be involved in the development of asthma in childhood. | 0.218218 | Both <span class="gene" id="25003170-10-5-10">ICAM1</span> and ETS, and interactions between these two factors are likely to be involved in the development of <span class="disease" id="25003170-10-111-117">asthma</span> in childhood. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | endothelial dysfunction | 24179 | null | angiotensin II | null | 28,105,253 | In the renal arteries of Wistar-Kyoto rats (WKY), DMC prevented the endothelial dysfunction caused by angiotensin II. | null | null | null |
null | null | Negative | MESH:C567886 | null | null | XPC | 2067 | null | ERCC1 | 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 |
2 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 2908 | NR3C1 | glucocorticoid receptor | CTD_human | 20,659,135 | The glucocorticoid receptor is required for experimental adrenocorticotrophic hormone-induced hypertension in mice. | 0.415108 | The <span class="gene" id="20659135-0-4-27">glucocorticoid receptor</span> is required for experimental adrenocorticotrophic hormone-induced <span class="disease" id="20659135-0-94-106">hypertension</span> in mice. | CTD_human;HPO |
null | null | Negative | MESH:D009369 | null | null | cancer | 21926 | null | TNF-a | null | 28,212,561 | In addition, the combination therapy enhanced systemic anti-cancer immunity by increasing the abundances of T cell populations expressing IFN-y and TNF-a. | null | null | null |
1 | 0 | Biomarker | C0030354 | Papilloma | disease | papillomas | 595 | CCND1 | Cyclin D1 | CTD_human | 12,151,359 | Cyclin D1 overexpression was observed in 26 of 47 (55%) PN hyperplasias, 3 of 4 (75%) papillomas, and 10 of 18 (56%) TCCs. | 0.200824 | <span class="gene" id="12151359-17-0-9">Cyclin D1</span> overexpression was observed in 26 of 47 (55%) PN hyperplasias, 3 of 4 (75%) <span class="disease" id="12151359-17-86-96">papillomas</span>, and 10 of 18 (56%) TCCs. | CTD_human |
1 | 0 | Biomarker | C0032460 | Polycystic Ovary Syndrome | disease | PCOS | 2549 | GAB1 | GAB1 | CTD_human | 21,411,543 | Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), S100P, and claudin-4 were significantly lower in PCOS endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated. | 0.200549 | Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), <span class="gene" id="21411543-11-107-140">GRB2-associated binding protein 1</span> (<span class="gene" id="21411543-11-142-146">GAB1</span>), S100P, and claudin-4 were significantly lower in <span class="disease" id="21411543-11-198-202">PCOS</span> endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated. | CTD_human |
55 | 13 | Biomarker | C0002395 | Alzheimer's Disease | disease | AD | 351 | APP | APP | CTD_human | 20,111,991 | Amyloid beta peptide (Abeta), generated by proteolytic cleavage of the amyloid precursor protein (APP), plays a pivotal role in the pathogenesis of Alzheimer's disease (AD). | 0.885734 | Amyloid beta peptide (Abeta), generated by proteolytic cleavage of the <span class="gene" id="20111991-1-71-96">amyloid precursor protein</span> (<span class="gene" id="20111991-1-98-101">APP</span>), plays a pivotal role in the pathogenesis of <span class="disease" id="20111991-1-148-167">Alzheimer's disease</span> (<span class="disease" id="20111991-1-169-171">AD</span>). | CTD_human;HPO;ORPHANET;UNIPROT |
null | null | Negative | MESH:C562592 | null | null | XPF | 21750 | null | TRF2 | null | 28,088,627 | In our previous study, we showed that low-dose gemcitabine caused telomere shortening by stabilizing TRF2 that was required for XPF-dependent telomere loss. | null | null | null |
3 | 2 | Biomarker | C0035334 | Retinitis Pigmentosa | disease | retinitis pigmentosa | 6121 | RPE65 | RPE65 | CTD_human | 16,272,259 | Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. | 0.612804 | Identification of mutations in the AIPL1, CRB1, GUCY2D, <span class="gene" id="16272259-0-56-61">RPE65</span>, and RPGRIP1 genes in patients with juvenile <span class="disease" id="16272259-0-107-127">retinitis pigmentosa</span>. | CTD_human;HPO;ORPHANET |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic | 5175 | PECAM1 | PECAM-1 | CTD_human | 17,509,538 | There was a negative correlation between serum levels of PECAM-1 and head circumference at birth in the autistic subjects. | 0.202733 | There was a negative correlation between serum levels of <span class="gene" id="17509538-7-57-64">PECAM-1</span> and head circumference at birth in the <span class="disease" id="17509538-7-104-112">autistic</span> subjects. | CTD_human |
null | null | Negative | MESH:D002280 | null | null | basal cell carcinomas | 261726 | null | tip | null | 28,108,241 | Over the past 5 years, 24 patients received nasal tip reconstruction with this flap following the resection of basal cell carcinomas. | null | null | null |
null | null | Negative | MESH:D005235 | null | null | NASH | 20296 | null | MCP-1 | null | 28,076,416 | These data suggest that therapeutic interventions for NASH directed at the MCP-1/CCR2 pathway should be initiated early. | null | null | null |
11 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumors | 2099 | ESR1 | ESR1 | CTD_human | 24,185,512 | We conducted a comprehensive genetic analysis of two independent cohorts of metastatic ER-positive breast tumors and identified mutations in ESR1 affecting the ligand-binding domain (LBD) in 14 of 80 cases. | 0.379256 | We conducted a comprehensive genetic analysis of two independent cohorts of metastatic <span class="gene" id="24185512-3-87-89">ER</span>-positive <span class="disease" id="24185512-3-99-112">breast tumors</span> and identified mutations in <span class="gene" id="24185512-3-141-145">ESR1</span> affecting the ligand-binding domain (LBD) in 14 of 80 cases. | CTD_human |
1 | 0 | Biomarker | C0017601 | Glaucoma | disease | glaucoma | 1030 | CDKN2B | CDKN2B | CTD_human | 21,532,571 | We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. | 0.201099 | We also show that CDKN2A and <span class="gene" id="21532571-5-29-35">CDKN2B</span> are upregulated in the retina of a rat model of <span class="disease" id="21532571-5-84-92">glaucoma</span>. | CTD_human |
null | null | Negative | MESH:D005764 | null | null | gastroesophageal reflux disease | 221937 | null | MNF | null | 28,040,500 | MATERIALS _ METHODS: We prospectively compared 40 consecutive patients with gastroesophageal reflux disease who underwent anti-reflux surgery: 20 Nissen fundoplication (NF) and 20 the MNF approach. | null | null | null |
null | null | Negative | MESH:D000544 | null | null | AD | 12569 | null | p35 | null | 28,085,018 | injections of a modified truncated 24-aa peptide (TFP5), derived from the cdk5 activator p35, penetrated the blood-brain barrier and significantly rescued AD-like pathology in 5XFAD model mice. | null | null | null |
null | null | Negative | MESH:D006623 | null | null | VHL | 1956 | null | EGFR | null | 28,143,107 | The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 2067 | null | ERCC1 | null | 28,147,793 | Biomarker expression differences that did not meet statistical significance: ERCC1, MGMT, PDGFRA, RRM1, SPARC, TS and TOPO1. | null | null | null |
1 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 4323 | MMP14 | MMP14 | CTD_human | 19,661,247 | Taken together, these findings implicate acrolein-induced MMP14 expression and activity in mucin production in COPD. | 0.205415 | Taken together, these findings implicate acrolein-induced <span class="gene" id="19661247-14-58-63">MMP14</span> expression and activity in mucin production in <span class="disease" id="19661247-14-111-115">COPD</span>. | CTD_human |
2 | 0 | Therapeutic | C0017638 | Glioma | disease | glioma | 8743 | TNFSF10 | TRAIL | CTD_human | 16,820,965 | The results of the present study show that the anti-diabetic drug troglitazone sensitizes human glioma and neuroblastoma cells to TRAIL-induced apoptosis. | 0.22409 | The results of the present study show that the anti-diabetic drug troglitazone sensitizes human <span class="disease" id="16820965-3-96-102">glioma</span> and neuroblastoma cells to <span class="gene" id="16820965-3-130-135">TRAIL</span>-induced apoptosis. | CTD_human |
1 | 0 | Biomarker | C0026764 | Multiple Myeloma | disease | myeloma | 598 | BCL2L1 | Bcl-XL | CTD_human | 12,429,644 | MM cells express multiple Bcl-2 family members, including Bcl-2, Bcl-XL, and Mcl-1, which are thought to play a key role in the survival and drug resistance of myeloma. | 0.204931 | MM cells express multiple Bcl-2 family members, including Bcl-2, <span class="gene" id="12429644-2-65-71">Bcl-XL</span>, and Mcl-1, which are thought to play a key role in the survival and drug resistance of <span class="disease" id="12429644-2-160-167">myeloma</span>. | CTD_human |
null | null | Negative | MESH:C535918 | null | null | cat eye syndrome | 51816 | null | adenosine deaminase 2 | null | 28,024,309 | Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. | null | null | null |
null | null | Negative | MESH:D007027 | null | null | Hypothalamic | 18976 | null | pro-opiomelanocortin | null | 28,190,775 | Hypothalamic pro-opiomelanocortin (POMC) neurons regulate energy and glucose metabolism. | null | null | null |
4 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | RA | 7124 | TNF | TNF | CTD_human | 2,001,072 | TNF thus appears an additional component of RA subclinical alveolitis in RA, but its prognostic value and its precise role in lung damage remain to be determined. | 0.50559 | <span class="gene" id="2001072-7-0-3">TNF</span> thus appears an additional component of <span class="disease" id="2001072-7-44-46">RA</span> subclinical alveolitis in <span class="disease" id="2001072-7-73-75">RA</span>, but its prognostic value and its precise role in lung damage remain to be determined. | CTD_human |
1 | 0 | Biomarker | C0038358 | Gastric ulcer | disease | gastric ulcer healing | 7422 | VEGFA | vascular endothelial growth factor | CTD_human | 11,353,854 | Platelets modulate gastric ulcer healing: role of endostatin and vascular endothelial growth factor release. | 0.207114 | Platelets modulate <span class="disease" id="11353854-0-19-40">gastric ulcer healing</span>: role of endostatin and <span class="gene" id="11353854-0-65-99">vascular endothelial growth factor</span> release. | CTD_human |
2 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small-cell lung carcinoma | 4780 | NFE2L2 | NRF2 | CTD_human | 22,684,020 | Regulatory role of KEAP1 and NRF2 in PPAR? expression and chemoresistance in human non-small-cell lung carcinoma cells. | 0.207143 | Regulatory role of KEAP1 and <span class="gene" id="22684020-0-29-33">NRF2</span> in PPARγ expression and chemoresistance in human <span class="disease" id="22684020-0-83-112">non-small-cell lung carcinoma</span> cells. | CTD_human |
1 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2DM | 11132 | CAPN10 | CAPN-10 | CTD_human | 23,349,674 | Chronic exposure to iAs seems to be a risk factor for T2DM in humans through the reduction of beta-cell function, with an enhanced effect seen in the presence of the at-risk genotype of SNP-43 in CAPN-10. | 0.328526 | Chronic exposure to iAs seems to be a risk factor for <span class="disease" id="23349674-10-54-58">T2DM</span> in humans through the reduction of beta-cell function, with an enhanced effect seen in the presence of the at-risk genotype of SNP-43 in <span class="gene" id="23349674-10-196-203">CAPN-10</span>. | CTD_human |
null | null | Negative | MESH:C535970 | null | null | morning glory syndrome | 5362 | null | OCT | null | 28,040,527 | PURPOSE: To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies. | null | null | null |
1 | 0 | Biomarker | C0001403 | Addison Disease | disease | primary adrenal insufficiency | 23274 | CLEC16A | CLEC16A | CTD_human | 18,593,762 | Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. | 0.203506 | Polymorphisms in <span class="gene" id="18593762-0-17-24">CLEC16A</span> and CIITA at 16p13 are associated with <span class="disease" id="18593762-0-64-93">primary adrenal insufficiency</span>. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | liver disease | 4938;4939;4940 | null | OAS1-3 | null | 28,139,728 | The aim was to analyze the association between 2'5'oligoadenylate synthetase 1,2 and 3 (OAS1-3) and myxovirus resistance proteins 1 (Mx1) polymorphisms and severity of liver disease in human immunodeficiency virus (HIV)/hepatitis C virus (HCV) coinfected patients. | null | null | null |
1 | 0 | Biomarker | C0024145 | Chilblain lupus 1 | disease | chilblain lupus | 25939 | SAMHD1 | SAMHD1 | CTD_human | 27,566,796 | Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. | 0.4 | Familial <span class="disease" id="27566796-1-9-24">chilblain lupus</span> is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or <span class="gene" id="27566796-1-141-147">SAMHD1</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C1168401 | Squamous cell carcinoma of the head and neck | disease | HNSCC | 7157 | TP53 | TP53 | CTD_human | 25,086,664 | The TP53-3p interaction is specific to chromosome 3p and validates in HNSCC and pan-cancer cohorts. | 0.255979 | The <span class="gene" id="25086664-4-4-8">TP53</span>-3p interaction is specific to chromosome 3p and validates in <span class="disease" id="25086664-4-70-75">HNSCC</span> and pan-cancer cohorts. | CTD_human |
null | null | Negative | MESH:D017827 | null | null | Wild type | 4854 | null | Notch3 | null | 28,131,704 | APPROACH AND RESULTS: Wild type (WT) and Notch3 knockout (Notch3KO) mice were subjected to MI by the ligation of left anterior descending coronary artery (LAD). | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild-type | 569575 | null | Pgr | null | 28,111,234 | In this study, we examined expression of all transcripts using RNA-Seq in preovulatory follicular cells collected following the final oocyte maturation, but prior to ovulation, from wild-type (WT) or Pgr-KO fish. | null | null | null |
8 | 1 | Biomarker | C0001973 | Alcoholic Intoxication, Chronic | disease | alcohol dependence | 125 | ADH1B | ADH1B | CTD_human | 16,404,797 | The hypothesized mechanism underlying the associations of the ADH1B and ALDH2 polymorphisms with alcohol dependence is that the isoenzymes encoded by these alleles lead to an accumulation of acetaldehyde during alcohol metabolism. | 0.509396 | The hypothesized mechanism underlying the associations of the <span class="gene" id="16404797-5-62-67">ADH1B</span> and ALDH2 polymorphisms with <span class="disease" id="16404797-5-97-115">alcohol dependence</span> is that the isoenzymes encoded by these alleles lead to an accumulation of acetaldehyde during alcohol metabolism. | CTD_human;PSYGENET |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | SE | 627 | BDNF | neurotrophin | CTD_human | 8,635,431 | These results provide a complete description of changes in mRNA levels of neurotrophins and their receptors in the forebrain after SE and supply additional data supporting the view that neurotrophin gene expression is related to abnormal neuronal activity. | 0.280824 | These results provide a complete description of changes in mRNA levels of neurotrophins and their receptors in the forebrain after <span class="disease" id="8635431-9-131-133">SE</span> and supply additional data supporting the view that <span class="gene" id="8635431-9-186-198">neurotrophin</span> gene expression is related to abnormal neuronal activity. | CTD_human |
null | null | Negative | MESH:D017573 | null | null | epithelial membrane antigen | 947 | null | CD34 | null | 28,134,725 | DFSPs from our tissue archives were screened for tumors with a sclerosing pattern, and then studied with epithelial membrane antigen (EMA), CD34, and elastic tissue staining to investigate whether such stains can differentiate sclerosing DFSP from sclerotic fibroma. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor a | 29260 | null | toll-like receptor 4 | null | 28,061,403 | It also significantly restored hippocampal level of reactive oxygen species (ROS), glutathione (GSH), nuclear factor (erythroid-derived 2)-like 2 (Nrf2), activity of catalase and caspase 3, nuclear factor-<kappa>B (NF-kB), toll-like receptor 4 (TLR4), tumor necrosis factor a (TNFa), interleukin-1b (IL-1b), neural cell adhesion molecule (NCAM), glial fibrillary acidic protein (GFAP), cathepsin D, and heme oxygenase 1 (HO-1). | null | null | null |
null | null | Negative | MESH:C564589 | null | null | SMC | 18538 | null | PCNA | null | 28,025,048 | This effect was mainly due to a substantial reduction the number of cells that stained positive for SMC (a-SMA) and PCNA in the vessel walls. | null | null | null |
3 | 7 | Biomarker | C1840333 | Barakat syndrome | disease | HDR-syndrome | 2625 | GATA3 | GATA-3 | CTD_human | 20,006,695 | Based on observations that mutations of GATA-3 are responsible for the HDR-syndrome (hypoparathyroidism, deafness, renal defects) and that GATA-transcription factors have an important role to play in inner ear development, we hypothesized that these transcription factors may be involved in regulatory changes of prestin transcription. | 0.689066 | Based on observations that mutations of <span class="gene" id="20006695-1-40-46">GATA-3</span> are responsible for the <span class="disease" id="20006695-1-71-83">HDR-syndrome</span> (hypoparathyroidism, deafness, renal defects) and that GATA-transcription factors have an important role to play in inner ear development, we hypothesized that these transcription factors may be involved in regulatory changes of prestin transcription. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | lung fibrosis | 6356 | CCL11 | CCL11 | CTD_human | 16,314,464 | Together, these data suggest that CCL11 and CCR3 are important in the pulmonary recruitment of granulocytes and play significant pathogenic roles in blm-induced lung fibrosis. | 0.203008 | Together, these data suggest that <span class="gene" id="16314464-10-34-39">CCL11</span> and CCR3 are important in the pulmonary recruitment of granulocytes and play significant pathogenic roles in blm-induced <span class="disease" id="16314464-10-161-174">lung fibrosis</span>. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 10,713,657 | In this study, we demonstrated that anemia in cancer patients was caused by blunted erythropoietin response, rather than its quantitative deficiency. | 0.24092 | In this study, we demonstrated that <span class="disease" id="10713657-11-36-42">anemia</span> in cancer patients was caused by blunted <span class="gene" id="10713657-11-84-98">erythropoietin</span> response, rather than its quantitative deficiency. | CTD_human |
null | null | Negative | MESH:D003643 | null | null | deaths | 84357 | null | rUK | null | 28,062,643 | Between the 1950s and 2000s, 'excess deaths' by age 80 per 100 000 population associated with living in Scotland grew from 4341 to 7203 compared with rUK, and from 4132 to 8828 compared with rWE. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 12165 | null | BMP9 | null | 28,142,420 | BMP9 is upregulated in the RIP1-Tag2 murine model of vascular invasive carcinoma; treatment with a murine version of dalantercept (RAP-041) can inhibit tumor growth. | null | null | null |
null | null | Negative | MESH:D000230 | null | null | adenocarcinomas | 107029 | null | ME2 | 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:C562719 | null | null | TN | 2064 | null | Her-2 | null | 28,105,662 | This study aims to determine if preoperative MRI is associated with reduced IBTR rates in the longer term and evaluate IBTR rates of a high risk (TN and Her-2 positive) subgroup in those receiving MRI or not. | null | null | null |
6 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 5444 | PON1 | PON1 | CTD_human | 21,629,682 | Human serum paraoxonase-1 (PON1) prevents oxidation of low density lipoprotein cholesterol (LDL-C) and hydrolyzes the oxidized form, therefore preventing the development of atherosclerosis. | 0.286433 | Human serum <span class="gene" id="21629682-1-12-25">paraoxonase-1</span> (<span class="gene" id="21629682-1-27-31">PON1</span>) prevents oxidation of low density lipoprotein cholesterol (LDL-C) and hydrolyzes the oxidized form, therefore preventing the development of <span class="disease" id="21629682-1-173-188">atherosclerosis</span>. | CTD_human |
3 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 5581 | PRKCE | PKCepsilon | CTD_human | 12,582,831 | Injection of 5- and 12-lipoxygenase produced hyperalgesia that was not antagonized by inhibitors of PKA, PKCepsilon or MAPK.These findings suggest that: (1). lipoxygenase products of arachidonic acid function as second messengers in the peripheral hyperalgesia induced by agents that act directly on primary afferent nociceptors (epinephrine and prostaglandin E(2)), (2). products of the 5-lipoxygenase and 12-lipoxygenase pathway are involved in this function, and (3). these lipoxygenase products contribute to hyperalgesia at or downstream of protein kinase A and PKCepsilon. | 0.202733 | Injection of 5- and 12-lipoxygenase produced <span class="disease" id="12582831-5-45-57">hyperalgesia</span> that was not antagonized by inhibitors of PKA, <span class="gene" id="12582831-5-105-115">PKCepsilon</span> or MAPK.These findings suggest that: (1). lipoxygenase products of arachidonic acid function as second messengers in the peripheral <span class="disease" id="12582831-5-248-260">hyperalgesia</span> induced by agents that act directly on primary afferent nociceptors (epinephrine and prostaglandin E(2)), (2). products of the 5-lipoxygenase and 12-lipoxygenase pathway are involved in this function, and (3). these lipoxygenase products contribute to <span class="disease" id="12582831-5-513-525">hyperalgesia</span> at or downstream of protein kinase A and <span class="gene" id="12582831-5-567-577">PKCepsilon</span>. | CTD_human |
1 | 0 | Biomarker | C0029463 | Osteosarcoma | disease | osteosarcoma | 4015 | LOX | LOX | CTD_human | 23,886,186 | Interactive effect of bisphenol A (BPA) exposure with -22G/C polymorphism in LOX gene on the risk of osteosarcoma. | 0.201099 | Interactive effect of bisphenol A (BPA) exposure with -22G/C polymorphism in <span class="gene" id="23886186-0-77-80">LOX</span> gene on the risk of <span class="disease" id="23886186-0-101-113">osteosarcoma</span>. | CTD_human |
1 | 0 | Biomarker | C0598608 | Hyperhomocysteinemia | disease | hHcy | 834 | CASP1 | caspase 1 | CTD_human | 22,647,887 | Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition. | 0.2 | Pathologically, <span class="disease" id="22647887-7-16-20">hHcy</span>s-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by <span class="gene" id="22647887-7-230-239">caspase 1</span> inhibition. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 10135 | NAMPT | NAMPT | CTD_human | 23,834,033 | Elevated microRNA-34a in obesity reduces NAD+ levels and SIRT1 activity by directly targeting NAMPT. | 0.213265 | Elevated microRNA-34a in <span class="disease" id="23834033-0-25-32">obesity</span> reduces NAD+ levels and SIRT1 activity by directly targeting <span class="gene" id="23834033-0-94-99">NAMPT</span>. | CTD_human |
2 | 0 | Biomarker | C3714756 | Intellectual Disability | group | intellectual disability | 26040 | SETBP1 | SETBP1 | CTD_human | 25,217,958 | These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. | 0.400275 | These genetic changes include haploinsufficiency of <span class="gene" id="25217958-6-52-58">SETBP1</span> associated with <span class="disease" id="25217958-6-75-98">intellectual disability</span> and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. | CTD_human;HPO |
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