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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D030342 | null | null | autosomal recessive disorder | 3032 | null | HADHB | null | 28,132,977 | Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid beta-oxidation caused by HADHA or HADHB mutation. | null | null | null |
null | null | Negative | MESH:D050197 | null | null | atherosclerosis | 11816 | null | apolipoprotein-E | null | 28,069,704 | We investigated the role of Ang-1 in atherosclerosis-prone apolipoprotein-E (Apo-E) knockout mouse. | null | null | null |
null | null | Negative | MESH:D011014 | null | null | pulmonary inflammation | 12778 | null | CXCR7 | null | 28,188,248 | In conclusion, our data identified the pivotal role of the receptor CXCR7 in pulmonary inflammation with a predominant effect on the pulmonary epithelium and PMNs. | null | null | null |
null | null | Negative | MESH:D007938 | null | null | Leukemia | 315606 | null | MLL | null | 28,024,519 | UNASSIGNED: Leukemia carring translocation at the 11q23 locus is referred to MLL-rearranged (MLL-r) leukemia, and the occurrence of this genetic lesion is associated with a poor prognosis. | null | null | null |
1 | 0 | Biomarker | C0027796 | Neuralgia | phenotype | neuropathic pain | 7124 | TNF | TNF-? | CTD_human | 20,846,523 | Administration of spironolactone (10 and 20 mg/kg) significantly attenuated chronic constriction injury-induced pain related behaviour and foot deformity along with attenuation of TNF-? levels, without modulating vincristine-induced neuropathic pain. | 0.201374 | Administration of spironolactone (10 and 20 mg/kg) significantly attenuated chronic constriction injury-induced pain related behaviour and foot deformity along with attenuation of <span class="gene" id="20846523-8-180-185">TNF-α</span> levels, without modulating vincristine-induced <span class="disease" id="20846523-8-233-249">neuropathic pain</span>. | CTD_human |
1 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | AML-M3 | 3684 | ITGAM | CD11b | CTD_human | 16,764,927 | We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy. | 0.201923 | We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, <span class="gene" id="16764927-8-77-82">CD11b</span> and CD11c) in accurate prediction of <span class="disease" id="16764927-8-120-126">AML-M3</span>, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy. | CTD_human |
6 | 2 | Therapeutic | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 7157 | TP53 | p53 | CTD_human | 17,191,126 | Different levels of p53 induced either apoptosis or cell cycle arrest in a doxycycline-regulated hepatocellular carcinoma cell line in vitro. | 0.672301 | Different levels of <span class="gene" id="17191126-0-20-23">p53</span> induced either apoptosis or cell cycle arrest in a doxycycline-regulated <span class="disease" id="17191126-0-97-121">hepatocellular carcinoma</span> cell line in vitro. | CTD_human;HPO |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 2876 | GPX1 | glutathione peroxidase 1 | CTD_human | 19,195,803 | Genetic variant of glutathione peroxidase 1 in autism. | 0.202682 | Genetic variant of <span class="gene" id="19195803-0-19-43">glutathione peroxidase 1</span> in <span class="disease" id="19195803-0-47-53">autism</span>. | CTD_human |
2 | 0 | Therapeutic | C0033578 | Prostatic Neoplasms | group | prostate tumor | 11009 | IL24 | MDA7 | CTD_human | 21,671,747 | In conclusion, ASC expressing PEDF and MDA7 could effectively reduce prostate tumor growth in vivo, suggesting ASC-cytokine therapies might have translational applications, especially the PEDF modality. | 0.200549 | In conclusion, ASC expressing PEDF and <span class="gene" id="21671747-11-39-43">MDA7</span> could effectively reduce <span class="disease" id="21671747-11-69-83">prostate tumor</span> growth in vivo, suggesting ASC-cytokine therapies might have translational applications, especially the PEDF modality. | CTD_human |
null | null | Negative | MESH:C536227 | null | null | hematopoiesis | 2305 | null | FOXM1 | null | 28,154,085 | To understand the role of FOXM1 in normal hematopoiesis, human cord blood CD34<sup>+</sup>cells were transduced with FOXM1 short hairpin ribonucleic acid (shRNA) lentivirus. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 6197 | RPS6KA3 | RPS6KA3 | CTD_human | 22,561,517 | We found new recurrent alterations in four genes (ARID1A, RPS6KA3, NFE2L2 and IRF2) not previously described in HCC. | 0.200275 | We found new recurrent alterations in four genes (ARID1A, <span class="gene" id="22561517-4-58-65">RPS6KA3</span>, NFE2L2 and IRF2) not previously described in <span class="disease" id="22561517-4-112-115">HCC</span>. | CTD_human |
null | null | Negative | MESH:D009203 | null | null | MI | 24185 | null | Akt | null | 28,039,938 | CONCLUSIONS: The administration of P2X7 R RNAi during the acute inflammatory response phase prevented the process of sympathetic hyperinnervation after MI, which was associated in part with inhibiting the Akt and ERK1/2 pathways and NF-kB activation. | null | null | null |
null | null | Negative | MESH:C562463 | null | null | pancreatic carcinoma | 4150 | null | MYC-associated zinc finger protein | null | 28,008,270 | UNASSIGNED: This study aimed to investigate the expression and clinical significance of MYC-associated zinc finger protein (MAZ) in pancreatic carcinoma (PC), and the biological functions of MAZ in PC cells. | null | null | null |
6 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3553 | IL1B | IL-1 beta | CTD_human | 7,582,491 | These data suggest that IL-10 limits the inflammatory hyperalgesia evoked by carrageenin and bradykinin by two mechanisms: inhibition of cytokine production and inhibition of IL-1 beta evoked PGE2 production. | 0.280275 | These data suggest that IL-10 limits the inflammatory <span class="disease" id="7582491-7-54-66">hyperalgesia</span> evoked by carrageenin and bradykinin by two mechanisms: inhibition of cytokine production and inhibition of <span class="gene" id="7582491-7-175-184">IL-1 beta</span> evoked PGE2 production. | CTD_human |
1 | 0 | Biomarker | C0149521 | Pancreatitis, Chronic | disease | chronic pancreatitis | 6690 | SPINK1 | SPINK1 | CTD_human | 18,206,817 | Other genes--such as the anionic trypsinogen (PRSS2), the serine protease inhibitor Kazal type 1 (SPINK1), and the cystic fibrosis transmembrane conductance regulator (CFTR)--have also been found to be associated with chronic pancreatitis (idiopathic and hereditary). | 0.499711 | Other genes--such as the anionic trypsinogen (PRSS2), the <span class="gene" id="18206817-8-58-96">serine protease inhibitor Kazal type 1</span> (<span class="gene" id="18206817-8-98-104">SPINK1</span>), and the cystic fibrosis transmembrane conductance regulator (CFTR)--have also been found to be associated with <span class="disease" id="18206817-8-218-238">chronic pancreatitis</span> (idiopathic and hereditary). | CTD_human;HPO |
null | null | Negative | MESH:D009503 | null | null | Neutropenia | 1478091 | null | MK-1496 | null | 28,022,159 | Neutropenia caused by MK-1496 is a mechanism-based effect of PLK1 inhibition and can be used as a PD marker due to a trend of correlation with PK parameters. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 40 | ASIC2 | ACCN1 | CTD_human | 17,376,794 | Nominally significant single SNP and/or haplotype-based association results were detected in 15 genes, of which, MYO1D, ACCN1 and LASP1 stand out as genes with autism risk alleles requiring further study, with potential GRRs in the range of 1.34-2.29. | 0.202682 | Nominally significant single SNP and/or haplotype-based association results were detected in 15 genes, of which, MYO1D, <span class="gene" id="17376794-9-120-125">ACCN1</span> and LASP1 stand out as genes with <span class="disease" id="17376794-9-160-166">autism</span> risk alleles requiring further study, with potential GRRs in the range of 1.34-2.29. | CTD_human |
1 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | chronic renal failure | 2981 | GUCA2B | Uroguanylin | CTD_human | 15,780,094 | Uroguanylin concentrations are increased in patients with chronic renal failure, nephrotic syndrome, or those on dialysis. | 0.203008 | <span class="gene" id="15780094-3-0-11">Uroguanylin</span> concentrations are increased in patients with <span class="disease" id="15780094-3-58-79">chronic renal failure</span>, nephrotic syndrome, or those on dialysis. | CTD_human |
1 | 0 | Biomarker | C0023015 | Language Disorders | group | LI | 255239 | ANKK1 | ANKK1 | CTD_human | 23,691,092 | Our results show that smoking during pregnancy increases the risk for LI and poor performance on language tasks and that ANKK1/DRD2 contributes to language performance. | 0.200275 | Our results show that smoking during pregnancy increases the risk for <span class="disease" id="23691092-8-70-72">LI</span> and poor performance on language tasks and that <span class="gene" id="23691092-8-121-126">ANKK1</span>/DRD2 contributes to language performance. | CTD_human |
null | null | Negative | MESH:D001791 | null | null | platelet aggregation | 14061 | null | thrombin | null | 28,073,784 | Using multicolor confocal intravital microscopy in mouse models of sepsis, we observed profound platelet aggregation, thrombin activation, and fibrin clot formation within (and downstream of) NETs in vivo. | null | null | null |
4 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's disease | 6531 | SLC6A3 | SLC6A3 | CTD_human | 16,963,468 | 5' and 3' region variability in the dopamine transporter gene (SLC6A3), pesticide exposure and Parkinson's disease risk: a hypothesis-generating study. | 0.256248 | 5' and 3' region variability in the <span class="gene" id="16963468-0-36-56">dopamine transporter</span> gene (<span class="gene" id="16963468-0-63-69">SLC6A3</span>), pesticide exposure and <span class="disease" id="16963468-0-95-114">Parkinson's disease</span> risk: a hypothesis-generating study. | CTD_human |
null | null | Negative | MESH:D018805 | null | null | sepsis | 387173 | null | miR-155 | null | 28,131,302 | Noteworthy, miR-155 was also found to be upregulated in the plasma of patients with septic cardiac dysfunction compared to sepsis patients without cardiac dysfunction, indicating a potential clinical relevance of miR-155. | null | null | null |
5 | 3 | Biomarker | C0004096 | Asthma | disease | asthma | 9173 | IL1RL1 | IL1RL1 | CTD_human | 24,241,537 | Four of these, GSDMB, IL33, RAD50 and IL1RL1, were previously reported as asthma susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of asthma. | 0.225077 | Four of these, GSDMB, IL33, RAD50 and <span class="gene" id="24241537-5-38-44">IL1RL1</span>, were previously reported as <span class="disease" id="24241537-5-74-80">asthma</span> susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of <span class="disease" id="24241537-5-233-239">asthma</span>. | CTD_human |
1 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 353143 | LCE3B | LCE3B | CTD_human | 19,169,253 | Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. | 0.221636 | Deletion of the late cornified envelope <span class="gene" id="19169253-0-40-45">LCE3B</span> and LCE3C genes as a susceptibility factor for <span class="disease" id="19169253-0-93-102">psoriasis</span>. | CTD_human |
1 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 30009 | TBX21 | TBX21 | CTD_human | 15,806,396 | In order to examine whether polymorphisms in the candidate gene, TBX21, located on chromosome 17q21.32, are related to the risk of human asthma phenotypes, we have searched for genetic variations in the human TBX21 gene and identified 24 single nucleotide polymorphisms (SNPs), including five novel SNPs, by direct sequencing in Japanese subjects. | 0.431352 | In order to examine whether polymorphisms in the candidate gene, <span class="gene" id="15806396-4-65-70">TBX21</span>, located on chromosome 17q21.32, are related to the risk of human <span class="disease" id="15806396-4-137-143">asthma</span> phenotypes, we have searched for genetic variations in the human <span class="gene" id="15806396-4-209-214">TBX21</span> gene and identified 24 single nucleotide polymorphisms (SNPs), including five novel SNPs, by direct sequencing in Japanese subjects. | CTD_human;HPO |
3 | 0 | Biomarker | C0019151 | Hepatic Encephalopathy | disease | hepatic encephalopathy | 4128 | MAOA | monoamine oxidase A | CTD_human | 9,048,767 | Increased density of catalytic sites and expression of brain monoamine oxidase A in humans with hepatic encephalopathy. | 0.200275 | Increased density of catalytic sites and expression of brain <span class="gene" id="9048767-0-61-80">monoamine oxidase A</span> in humans with <span class="disease" id="9048767-0-96-118">hepatic encephalopathy</span>. | CTD_human |
null | null | Negative | MESH:D016411 | null | null | peripheral T-cell lymphoma | 100037301 | null | DNA methyltransferase 3A | null | 28,157,189 | UNASSIGNED: Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. | null | null | null |
2 | 0 | Biomarker | C0751072 | Frontotemporal Lobar Degeneration | disease | FTLD | 23435 | TARDBP | TDP-43 | CTD_human | 24,019,256 | TDP-43 is an RNA binding protein found to accumulate in the cytoplasm of brain and spinal cord from patients affected with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). | 0.259275 | <span class="gene" id="24019256-1-0-6">TDP-43</span> is an RNA binding protein found to accumulate in the cytoplasm of brain and spinal cord from patients affected with amyotrophic lateral sclerosis (ALS) and <span class="disease" id="24019256-1-163-196">frontotemporal lobar degeneration</span> (<span class="disease" id="24019256-1-198-202">FTLD</span>). | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 22164 | null | OX40L | null | 28,069,723 | The activity of the mGITRL-FP was compared with an agonistic murine OX40L-FP targeting OX40, in CT26 and B16F10-Luc2 tumor models. | null | null | null |
1 | 0 | Biomarker | C0004134 | Ataxia | phenotype | coordination impairment | 348980 | HCN1 | HCN1 | CTD_human | 19,747,469 | In this study we showed that the motor coordination impairment observed in HCN1-/- mice is paralleled by a decline of GABA content in the cerebellum. | 0.2 | In this study we showed that the motor <span class="disease" id="19747469-4-39-62">coordination impairment</span> observed in <span class="gene" id="19747469-4-75-79">HCN1</span>-/- mice is paralleled by a decline of GABA content in the cerebellum. | CTD_human |
null | null | Negative | MESH:D007029 | null | null | hypothalamus | 2475 | null | mTOR | null | 28,130,174 | Overall, both voluntary and forced exercise increased p-mTOR-positive neurons in the medial prefrontal cortex, striatum, hippocampus, hypothalamus, and amygdala compared to locked wheel controls. | null | null | null |
null | null | Negative | MESH:D000163 | null | null | AIDS | 57379 | null | aid | null | 28,157,026 | Results Control of corruption and democratic accountability revealed an independent effect and interaction with the amount of HIV/AIDS aid on incidence of HIV/AIDS, respectively, while none of the two governance variables had a significant effect on HIV/AIDS prevalence. | null | null | null |
null | null | Negative | OMIM:168600 | null | null | PD | 5133 | null | PD1 | null | 28,084,337 | Recently, patients with metastatic desmoplastic melanoma (DM) have been shown to respond more favorably to anti-PD1/PD-L1 therapy than other melanoma subtypes. | null | null | null |
1 | 0 | Biomarker | C0020557 | Hypertriglyceridemia | phenotype | HTG | 1071 | CETP | CETP | CTD_human | 12,754,275 | Associations between CET, lipids, insulin resistance, CETP and PLTP activities, and PLTP mass were investigated in 18 HTG patients and 20 controls. | 0.212152 | Associations between CET, lipids, insulin resistance, <span class="gene" id="12754275-3-54-58">CETP</span> and PLTP activities, and PLTP mass were investigated in 18 <span class="disease" id="12754275-3-118-121">HTG</span> patients and 20 controls. | CTD_human |
null | null | Negative | MESH:D004194 | null | null | stable disease | 4807 | null | NSCL | null | 28,015,667 | Seven pts had stable disease (SD) lasting 12 or more weeks, 2 pts unconfirmed SD, and 1 patient (NSCL) progressed. | null | null | null |
3 | 52 | Biomarker | C0007194 | Hypertrophic Cardiomyopathy | disease | HCM | 4607 | MYBPC3 | Mybpc3 | CTD_human | 25,566,086 | Here we tested whether proteasome inhibition could also reverse the disease phenotype in a genetically-modified mouse model of hypertrophic cardiomyopathy (HCM), which carries a mutation in Mybpc3, encoding the myofilament protein cardiac myosin-binding protein C. At 7 weeks of age, homozygous mutant mice (KI) have 39% higher left ventricular mass-to-body-weight ratio and 29% lower fractional area shortening (FAS) than wild-type (WT) mice. | 0.496363 | Here we tested whether proteasome inhibition could also reverse the disease phenotype in a genetically-modified mouse model of <span class="disease" id="25566086-3-127-154">hypertrophic cardiomyopathy</span> (<span class="disease" id="25566086-3-156-159">HCM</span>), which carries a mutation in <span class="gene" id="25566086-3-190-196">Mybpc3</span>, encoding the myofilament protein cardiac myosin-binding protein C. At 7 weeks of age, homozygous mutant mice (KI) have 39% higher left ventricular mass-to-body-weight ratio and 29% lower fractional area shortening (FAS) than wild-type (WT) mice. | CTD_human;HPO |
null | null | Negative | MESH:D007249 | null | null | inflammation | 11450 | null | adiponectin | null | 28,145,500 | Furthermore, in obese mice (TAM)R2 promoted systemic effects including; decreased weight gain; reduced epididymal fat mass and inflammation; increased epididymal adipoQ expression; increased circulating adiponectin. | null | null | null |
null | null | Negative | MESH:D013959 | null | null | thyroid disorders | 100508689 | null | mucin | null | 28,099,617 | The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. | null | null | null |
2 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | PF | 3576 | CXCL8 | IL-8 | CTD_human | 17,894,541 | IL-8 and G-CSF levels in BAL fluid correlate only with the percentage and the absolute number of neutrophils of the BAL fluid in patients with PF (p = 0.02/p = 0.01; p = 0.01/p = 0.01; respectively). | 0.200275 | <span class="gene" id="17894541-7-0-4">IL-8</span> and G-CSF levels in BAL fluid correlate only with the percentage and the absolute number of neutrophils of the BAL fluid in patients with <span class="disease" id="17894541-7-143-145">PF</span> (p = 0.02/p = 0.01; p = 0.01/p = 0.01; respectively). | CTD_human |
4 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 185 | AGTR1 | AT1R | CTD_human | 23,603,059 | Taken together, our results indicate that arsenic indeed upregulates the AT1R expression, thus highlighting a role of arsenic-induced aberrant AT1R signaling in the pathogenesis of hypertension. | 0.442969 | Taken together, our results indicate that arsenic indeed upregulates the <span class="gene" id="23603059-7-73-77">AT1R</span> expression, thus highlighting a role of arsenic-induced aberrant AT1R signaling in the pathogenesis of <span class="disease" id="23603059-7-181-193">hypertension</span>. | CTD_human |
1 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | ADHD | 28964 | GIT1 | Git1 | CTD_human | 21,499,268 | Hyperactivity in Git1(-/-) mice is reversed by amphetamine and methylphenidate, psychostimulants commonly used to treat ADHD. | 0.280549 | Hyperactivity in <span class="gene" id="21499268-5-17-21">Git1</span>(-/-) mice is reversed by amphetamine and methylphenidate, psychostimulants commonly used to treat <span class="disease" id="21499268-5-120-124">ADHD</span>. | CTD_human |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 2560 | GABRB1 | GABRB1 | CTD_human | 16,080,114 | Through the convergence of all analyses, we conclude that GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. | 0.200824 | Through the convergence of all analyses, we conclude that GABRA4 is involved in the etiology of <span class="disease" id="16080114-16-96-102">autism</span> and potentially increases <span class="disease" id="16080114-16-129-135">autism</span> risk through interaction with <span class="gene" id="16080114-16-166-172">GABRB1</span>. | CTD_human |
1 | 0 | Biomarker | C0033375 | Prolactinoma | disease | prolactinoma | 652 | BMP4 | BMP-4 | CTD_human | 16,809,920 | Bone morphogenetic protein-4 (BMP-4), a member of the transforming growth factor-Beta(TGF-Beta) family, is overexpressed in different prolactinoma models and induces the development of these lineage adenomas. | 0.200824 | <span class="gene" id="16809920-1-0-28">Bone morphogenetic protein-4</span> (<span class="gene" id="16809920-1-30-35">BMP-4</span>), a member of the transforming growth factor-Beta(TGF-Beta) family, is overexpressed in different <span class="disease" id="16809920-1-134-146">prolactinoma</span> models and induces the development of these lineage adenomas. | CTD_human |
1 | 0 | Biomarker | C0029408 | Degenerative polyarthritis | disease | OA | 8200 | GDF5 | GDF-5 | CTD_human | 18,830,904 | Stimulation with prednisolone and TNFalpha reduced GDF-5 expression in OA and RA fibroblasts, whereas MTX and IL-1beta revealed minor or no relevant change. | 0.231707 | Stimulation with prednisolone and TNFalpha reduced <span class="gene" id="18830904-9-51-56">GDF-5</span> expression in <span class="disease" id="18830904-9-71-73">OA</span> and RA fibroblasts, whereas MTX and IL-1beta revealed minor or no relevant change. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 3356 | HTR2A | 5-HT2A | CTD_human | 17,097,612 | Increased hypothalamic 5-HT2A receptor gene expression and effects of pharmacologic 5-HT2A receptor inactivation in obese Ay mice. | 0.214508 | Increased hypothalamic <span class="gene" id="17097612-0-23-29">5-HT2A</span> receptor gene expression and effects of pharmacologic <span class="gene" id="17097612-0-84-90">5-HT2A</span> receptor inactivation in <span class="disease" id="17097612-0-116-121">obese</span> Ay mice. | CTD_human |
null | null | Negative | MESH:D053448 | null | null | prostate specific antigen | 2346 | null | PSMA | null | 28,023,416 | UNASSIGNED: 4535 Background: CV9103 is a prostate cancer (PCA) vaccine that contains the four antigens PSA (prostate specific antigen), PSCA, PSMA and STEAP1 as self-adjuvanted full-length mRNAs. | null | null | null |
16 | 61 | Biomarker | C0175694 | Smith-Lemli-Opitz Syndrome | disease | SLOS | 1717 | DHCR7 | DHCR7 | CTD_human | 17,994,283 | SLOS is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (DHCR7; EC 1.3.1.21), which maps to chromosome 11q12-13. | 0.734741 | <span class="disease" id="17994283-2-0-4">SLOS</span> is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (<span class="gene" id="17994283-2-88-93">DHCR7</span>; EC 1.3.1.21), which maps to chromosome 11q12-13. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C566273 | null | null | neutrophil serine proteases | 19152 | null | proteinase 3 | null | 28,192,517 | There is now renewed attention on neutrophils and neutrophil serine proteases (NSPs) such as neutrophil elastase (NE), proteinase 3 (PR3), and cathepsin G (CG) in inflammation and autoimmunity. | null | null | null |
48 | 353 | Biomarker | C0024796 | Marfan Syndrome | disease | MFS | 2200 | FBN1 | Fbn1 | CTD_human | 22,772,368 | Mice that harbor both a mutant Marfan syndrome (MFS) allele (Fbn1(C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-? signaling and phenotypic worsening in association with normalization of TGF-?2 expression and high expression of TGF-?1. | 0.843543 | Mice that harbor both a mutant <span class="disease" id="22772368-4-31-46">Marfan syndrome</span> (<span class="disease" id="22772368-4-48-51">MFS</span>) allele (<span class="gene" id="22772368-4-61-65">Fbn1</span>(C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-β signaling and phenotypic worsening in association with normalization of TGF-β2 expression and high expression of TGF-β1. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0032460 | Polycystic Ovary Syndrome | disease | PCOS | 3952 | LEP | leptin | CTD_human | 22,381,227 | These data suggested that sex steroid converting enzymes expression was different in SAT of PCOS patients that might contribute to abnormal testosterone and leptin level of PCOS patients. | 0.218009 | These data suggested that sex steroid converting enzymes expression was different in SAT of <span class="disease" id="22381227-8-92-96">PCOS</span> patients that might contribute to abnormal testosterone and <span class="gene" id="22381227-8-157-163">leptin</span> level of <span class="disease" id="22381227-8-173-177">PCOS</span> patients. | CTD_human |
null | null | Negative | MESH:D001039 | null | null | high expression group | 9235 | null | IL-32 | null | 28,143,101 | The cases with staining intensities from 0 to 2 were included in the IL-32 low expression group (LEG); whereas, those with staining intensity of 3 were considered the IL-32 high expression group (HEG). | null | null | null |
null | null | Negative | MESH:D006333 | null | null | heart failure | 29715 | null | Na+/Ca2+ exchanger | null | 28,149,313 | Digoxin increases the intracellular sodium concentration by inhibition of Na+/K+-ATPase that affects Na+/Ca2+ exchanger (NCX), which raises intracellular calcium and thus attenuates heart failure. | null | null | null |
1 | 0 | Biomarker | C1136249 | Mental Retardation, X-Linked | disease | X-linked mental retardation | 186 | AGTR2 | AGTR2 | CTD_human | 12,089,445 | AGTR2 mutations in X-linked mental retardation. | 0.205741 | <span class="gene" id="12089445-0-0-5">AGTR2</span> mutations in <span class="disease" id="12089445-0-19-46">X-linked mental retardation</span>. | CTD_human |
null | null | Negative | MESH:D014842 | null | null | Von Willebrand | 1351 | null | VIII | null | 28,090,594 | Using platelet poor plasma we will measure thrombin generation, fibrinogen, D-dimer, factor V and VIII, and Von Willebrand factor. | null | null | null |
null | null | Negative | MESH:D002289 | null | null | NSCLC | 338412 | null | PS 2 | null | 28,016,136 | CALGB study 9730 compared median and 1-year survival in 99 PS 2 NSCLC patients. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 100034204 | null | IL-2 | null | 28,092,612 | The expression levels of interferon-alpha 1 (IFN-a1), interferon-gamma (IFN-y), interleukin-1b, (IL-1b), IL-2, IL-4, IL-13 and tumor necrosis factor alpha (TNF-a) were measured in the serum obtained from control and RAO-susceptible horses during crisis. | null | null | null |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | Epo | CTD_human | 16,511,603 | Present studies reveal that, unlike steady-state erythropoiesis, erythropoiesis during anemia depends sharply on an Epo receptor-phosphotyrosine-343-Stat5 signaling axis. | 0.24092 | Present studies reveal that, unlike steady-state erythropoiesis, erythropoiesis during <span class="disease" id="16511603-2-87-93">anemia</span> depends sharply on an <span class="gene" id="16511603-2-116-119">Epo</span> receptor-phosphotyrosine-343-Stat5 signaling axis. | CTD_human |
null | null | Negative | MESH:D003677 | null | null | Mule deficiency | 10671 | null | p27 | null | 28,084,302 | Mule is elevated in T cells upon TCR engagement, and Mule deficiency in T cells blocks proliferation because KLF4 accumulates and drives upregulation of its transcriptional targets E2F2 and the cyclin-dependent kinase inhibitors p21 and p27. | null | null | null |
null | null | Negative | MESH:D007938 | null | null | leukemia | 5896;5897 | null | RAG1/2 | null | 28,179,379 | We confirmed that RAG1/2 also mobilizes genomic DNA into independent physiological breaks by identifying similar insertions in human lymphoma and leukemia. | null | null | null |
null | null | Negative | OMIM:612348 | null | null | neurotrophic activity | 5595;5594 | null | Erk1/2 | null | 28,163,105 | NGF61/100 displays a neurotrophic activity on DRG neurons comparable to that of control NGF61, despite a reduced activation of PLCy, Akt and Erk1/2. | null | null | null |
21 | 1 | Biomarker | C0025202 | melanoma | disease | melanoma | 673 | BRAF | BRAF | CTD_human | 23,237,741 | We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme. | 0.391291 | We have treated 45 patients with V600 mutated <span class="disease" id="23237741-5-46-54">melanoma</span> including patients with V600R mutation between July 2011 and October 2012 with the selective <span class="gene" id="23237741-5-148-152">BRAF</span> inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme. | CTD_human |
1 | 0 | Biomarker | C0010068 | Coronary heart disease | disease | coronary heart disease | 338 | APOB | apolipoprotein B | CTD_human | 17,658,632 | High levels of apolipoprotein B-containing lipoproteins, most prominently carried by low-density lipoprotein (LDL) particles, are an important risk factor for coronary heart disease. | 0.259285 | High levels of <span class="gene" id="17658632-3-15-31">apolipoprotein B</span>-containing lipoproteins, most prominently carried by low-density lipoprotein (LDL) particles, are an important risk factor for <span class="disease" id="17658632-3-159-181">coronary heart disease</span>. | CTD_human |
null | null | Negative | MESH:D007410 | null | null | intestinal injury | 12950 | null | CLP | null | 28,170,292 | To explore its role in septic intestinal injury, a non-anticoagulant heparanase inhibitor, N-desulfated/re- N-acetylated heparin (NAH), was administrated to a mouse sepsis model induced by cecal ligation and puncture (CLP). | null | null | null |
null | null | Negative | MESH:D030342 | null | null | related disorders | 706 | null | TSPO | null | 28,093,569 | It remains unclear, however, whether TSPO imaging can accurately capture low-grade inflammatory processes such as those present in schizophrenia and related disorders. | null | null | null |
null | null | Negative | MESH:D010190 | null | null | pancreatitis | 11699 | null | Ulinastatin | null | 28,191,863 | Ulinastatin (UTI), a drug used to treat shock and acute pancreatitis in clinic, has attracted attention for its protective effects through immunomodulatory and anti-inflammatory properties. | null | null | null |
null | null | Negative | MESH:C538322 | null | null | MSI-H | 5395 | null | PMS2 | null | 28,020,315 | Tumor tissue was assessed for morphology, microsatellite instability (MSI-H), microsatellite stability (MSS), Kras and Braf mutations, and expression of mismatch repair (MMR) proteins (MSH2, MLH1, MSH6, PMS2). | null | null | null |
3 | 9 | Biomarker | C0272302 | Gray Platelet Syndrome | disease | gray platelet syndrome | 23218 | NBEAL2 | NBEAL2 | CTD_human | 21,765,411 | Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. | 0.682198 | Exome sequencing identifies <span class="gene" id="21765411-0-28-34">NBEAL2</span> as the causative gene for <span class="disease" id="21765411-0-61-83">gray platelet syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D000783 | null | null | aneurysm | 407024 | null | miR-29b | null | 28,214,880 | BACKGROUND/AIMS: Our previous microarray results identified numerous microRNAs (miRNAs), including miR-29b, that were differentially expressed in the serum of intracranial aneurysm (IA) patients. | null | null | null |
1 | 0 | Therapeutic | C0242422 | Parkinsonian Disorders | group | Parkinsonian syndrome | 4803 | NGF | NGF | CTD_human | 19,694,610 | The present study investigates brain delivery of NGF adsorbed on poly(butyl cyanoacrylate) (PBCA) nanoparticles coated with polysorbate 80 and the pharmacological efficacy of this delivery system in the model of acute scopolamine-induced amnesia in rats as well as in the model of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced Parkinsonian syndrome. | 0.2 | The present study investigates brain delivery of <span class="gene" id="19694610-7-49-52">NGF</span> adsorbed on poly(butyl cyanoacrylate) (PBCA) nanoparticles coated with polysorbate 80 and the pharmacological efficacy of this delivery system in the model of acute scopolamine-induced amnesia in rats as well as in the model of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced <span class="disease" id="19694610-7-341-362">Parkinsonian syndrome</span>. | CTD_human |
69 | 0 | Therapeutic | 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 |
2 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | PF | 3576 | CXCL8 | IL-8 | CTD_human | 17,266,442 | A significant negative correlation was observed between the percentage of D(LCO) and IL-8 levels in BAL fluid in patients with PF (r = -0.47, p = 0.04). | 0.200275 | A significant negative correlation was observed between the percentage of D(LCO) and <span class="gene" id="17266442-7-85-89">IL-8</span> levels in BAL fluid in patients with <span class="disease" id="17266442-7-127-129">PF</span> (r = -0.47, p = 0.04). | CTD_human |
1 | 2 | Biomarker | C0341106 | Eosinophilic esophagitis | disease | EoE | 85480 | TSLP | TSLP | CTD_human | 20,208,534 | These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region. | 0.201923 | These data implicate the 5q22 locus in the pathogenesis of <span class="disease" id="20208534-4-59-62">EoE</span> and identify <span class="gene" id="20208534-4-76-80">TSLP</span> as the most likely candidate gene in the region. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 791075 | null | miR-761 | null | 28,054,302 | METHODS: First, we measured the expression of miR-761 in primary breast cancer tissues and breast cancer-derived cell lines using qRT-PCR. | null | null | null |
1 | 0 | Therapeutic | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 4982 | TNFRSF11B | osteoprotegerin | CTD_human | 16,769,263 | CFA-induced hyperalgesia was significantly suppressed by the bisphosphonates, zoledronic acid (ZOL) and alendronate and osteoprotegerin. c-src-deficient mice in which osteoclasts are inherently dysfunctional exhibited reduced CFA-induced hyperalgesia. | 0.2 | CFA-induced <span class="disease" id="16769263-6-12-24">hyperalgesia</span> was significantly suppressed by the bisphosphonates, zoledronic acid (ZOL) and alendronate and <span class="gene" id="16769263-6-120-135">osteoprotegerin</span>. c-src-deficient mice in which osteoclasts are inherently dysfunctional exhibited reduced CFA-induced <span class="disease" id="16769263-6-238-250">hyperalgesia</span>. | CTD_human |
3 | 0 | Biomarker | C0008370 | Cholestasis | disease | cholestasis | 8647 | ABCB11 | ABCB11 | CTD_human | 24,713,091 | Drug-induced cholestasis is a frequently observed side effect of drugs and is often caused by an unexpected interaction with the bile salt export pump (BSEP/ABCB11). | 0.214704 | Drug-induced <span class="disease" id="24713091-1-13-24">cholestasis</span> is a frequently observed side effect of drugs and is often caused by an unexpected interaction with the <span class="gene" id="24713091-1-129-150">bile salt export pump</span> (<span class="gene" id="24713091-1-152-156">BSEP</span>/<span class="gene" id="24713091-1-157-163">ABCB11</span>). | CTD_human |
1 | 0 | Biomarker | C0162835 | Hypopigmentation disorder | disease | hypopigmentation | 2737 | GLI3 | Gli3 | CTD_human | 18,397,875 | Complementation tests using a second allele of Gli3 (Gli3(Xt-J)) confirmed that a null mutation of Gli3 causes the increased hypopigmentation in Sox10(LacZ/+);Gli3(Mos1/)(+) double heterozygotes. | 0.200275 | Complementation tests using a second allele of <span class="gene" id="18397875-6-47-51">Gli3</span> (<span class="gene" id="18397875-6-53-63">Gli3(Xt-J)</span>) confirmed that a null mutation of <span class="gene" id="18397875-6-99-103">Gli3</span> causes the increased <span class="disease" id="18397875-6-125-141">hypopigmentation</span> in Sox10(LacZ/+);<span class="gene" id="18397875-6-159-163">Gli3</span>(Mos1/)(+) double heterozygotes. | CTD_human |
null | null | Negative | MESH:D004194 | null | null | organ injury/dysfunction | 4846 | null | endothelial nitric oxide synthase | null | 28,059,970 | CONCLUSIONS: Artesunate attenuated the organ injury/dysfunction associated with HS by a mechanism that involves the activation of the Akt-endothelial nitric oxide synthase survival pathway, and the inhibition of glycogen synthase kinase-3b and nuclear factor kappa B. | null | null | null |
1 | 0 | Biomarker | C0024530 | Malaria | disease | malaria | 1401 | CRP | C-reactive protein | CTD_human | 8,730,300 | C-reactive protein and haptoglobin in the evaluation of a community-based malaria control programme. | 0.201648 | <span class="gene" id="8730300-0-0-18">C-reactive protein</span> and haptoglobin in the evaluation of a community-based <span class="disease" id="8730300-0-74-81">malaria</span> control programme. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 3569 | null | IL-6 | null | 28,138,552 | Using IgG from patients we investigated the effect of these autoantibodies on monocytes and found that anti-myeloperoxidase antibodies (MPO-ANCA) reduced both IL-10 and IL-6 secretion in response to LPS. | null | null | null |
null | null | Negative | MESH:D009133 | null | null | muscle atrophy | 733657 | null | MAFbx | null | 28,064,564 | In addition, Asp increased protein and RNA contents in muscles, and decreased mRNA expression of muscle atrophy F-box (MAFbx) and muscle RING finger 1 (MuRF1). | null | null | null |
1 | 0 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 8289 | ARID1A | ARID1A | CTD_human | 23,202,128 | Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. | 0.200275 | Integrated genomic analyses identify <span class="gene" id="23202128-0-37-43">ARID1A</span> and ARID1B alterations in the childhood cancer <span class="disease" id="23202128-0-91-104">neuroblastoma</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 16193 | null | IL6 | null | 28,193,514 | MIR301A-knockout mice were resistant to the development of colitis following administration of DSS; their colon tissues expressed lower levels of interleukin 1b (IL1b), IL6, IL8, and tumor necrosis factor than colons of control mice. | null | null | null |
null | null | Negative | MESH:D007029 | null | null | hypothalamic-pituitary-gonadal (HPG) axis | 16410 | null | CD51 | null | 28,090,714 | Here, we explore the potential therapeutic benefits of CD51<sup>+</sup>SLCs transplantation and whether these transplanted cells can be regulated by the hypothalamic-pituitary-gonadal (HPG) axis. | null | null | null |
1 | 0 | Biomarker | C0032019 | Pituitary Neoplasms | group | pituitary tumor | 2688 | GH1 | GH | CTD_human | 19,420,816 | Endocrine examination revealed elevated plasma levels of growth hormone (GH) and insulin-like growth factor (IGF)-1, and an oral glucose tolerance test failed to suppress plasma GH levels, consistent with the diagnosis of GH-producing pituitary tumor. | 0.217019 | Endocrine examination revealed elevated plasma levels of <span class="gene" id="19420816-3-57-71">growth hormone</span> (<span class="gene" id="19420816-3-73-75">GH</span>) and insulin-like growth factor (IGF)-1, and an oral glucose tolerance test failed to suppress plasma <span class="gene" id="19420816-3-178-180">GH</span> levels, consistent with the diagnosis of <span class="gene" id="19420816-3-222-224">GH</span>-producing <span class="disease" id="19420816-3-235-250">pituitary tumor</span>. | CTD_human |
1 | 0 | Biomarker | C0152013 | Adenocarcinoma of lung (disorder) | disease | ADC | 5530 | PPP3CA | PPP3CA | CTD_human | 27,158,780 | New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types. | 0.2 | New significantly mutated genes included <span class="gene" id="27158780-3-41-47">PPP3CA</span>, DOT1L, and FTSJD1 in lung <span class="disease" id="27158780-3-75-78">ADC</span>, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types. | CTD_human |
25 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 348 | APOE | apolipoprotein E | CTD_human | 24,017,971 | Dietary quercetin attenuates oxidant-induced endothelial dysfunction and atherosclerosis in apolipoprotein E knockout mice fed a high-fat diet: a critical role for heme oxygenase-1. | 0.587329 | Dietary quercetin attenuates oxidant-induced endothelial dysfunction and <span class="disease" id="24017971-0-73-88">atherosclerosis</span> in <span class="gene" id="24017971-0-92-108">apolipoprotein E</span> knockout mice fed a high-fat diet: a critical role for heme oxygenase-1. | CTD_human;HPO |
2 | 3 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 111 | ADCY5 | ADCY5 | CTD_human | 20,081,858 | We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. | 0.210243 | We also demonstrated association of <span class="gene" id="20081858-5-36-41">ADCY5</span>, PROX1, GCK, GCKR and DGKB-TMEM195 with <span class="disease" id="20081858-5-82-97">type 2 diabetes</span>. | CTD_human |
3 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 1956 | EGFR | EGFR | CTD_human | 17,575,224 | A marked decrease on EGFR phosphorylation (P < 0.01) and c-Myc activation (P = 0.02) was observed in patients with R497K polymorphism, which is associated with decreased invasion (P = 0.01), lower nodal involvement (P = 0.02), reduced subsequent metastasis (P < 0.01), and longer disease-free (P < 0.01) as well as overall (P < 0.01) survival in stage II/III colorectal carcinoma patients who had received curative surgery. | 0.316631 | A marked decrease on <span class="gene" id="17575224-5-21-25">EGFR</span> phosphorylation (P < 0.01) and c-Myc activation (P = 0.02) was observed in patients with R497K polymorphism, which is associated with decreased invasion (P = 0.01), lower nodal involvement (P = 0.02), reduced subsequent <span class="disease" id="17575224-5-246-256">metastasis</span> (P < 0.01), and longer disease-free (P < 0.01) as well as overall (P < 0.01) survival in stage II/III colorectal carcinoma patients who had received curative surgery. | CTD_human |
1 | 0 | Biomarker | C0020452 | Hyperemia | disease | hyperemia | 5743 | PTGS2 | COX-2 | CTD_human | 11,820,457 | In inflammatory bowel disease, increased production of prostaglandins by cyclooxygenase-2 (COX-2) contributes to bowel dysfunction, inflammatory edema, and hyperemia suggesting that inhibitors of COX-2 may have beneficial effect in gut inflammation. | 0.2 | In inflammatory bowel disease, increased production of prostaglandins by <span class="gene" id="11820457-1-73-89">cyclooxygenase-2</span> (<span class="gene" id="11820457-1-91-96">COX-2</span>) contributes to bowel dysfunction, inflammatory edema, and <span class="disease" id="11820457-1-156-165">hyperemia</span> suggesting that inhibitors of <span class="gene" id="11820457-1-196-201">COX-2</span> may have beneficial effect in gut inflammation. | CTD_human |
1 | 0 | Therapeutic | C0034063 | Pulmonary Edema | phenotype | pulmonary edema | 7039 | TGFA | TGF-alpha | CTD_human | 11,919,079 | In the TGF-alpha transgenic mouse model, TGF-alpha protects against nickel-induced acute lung injury, at least in part, by attenuating the inflammatory response, reducing pulmonary edema, and preserving levels of SP-B. | 0.2 | In the <span class="gene" id="11919079-6-7-16">TGF-alpha</span> transgenic mouse model, <span class="gene" id="11919079-6-41-50">TGF-alpha</span> protects against nickel-induced acute lung injury, at least in part, by attenuating the inflammatory response, reducing <span class="disease" id="11919079-6-171-186">pulmonary edema</span>, and preserving levels of SP-B. | CTD_human |
1 | 0 | Biomarker | C0014859 | Esophageal Neoplasms | group | esophageal cancer | 2920 | CXCL2 | CXCL2 | CTD_human | 21,509,778 | The analyses pointed out the potential importance of CXCL2, and monitoring CXCL2 with quantitative videomicroscopy indicated that its biologic activity was silenced in OE21 esophageal cancer cells. | 0.200275 | The analyses pointed out the potential importance of <span class="gene" id="21509778-5-53-58">CXCL2</span>, and monitoring <span class="gene" id="21509778-5-75-80">CXCL2</span> with quantitative videomicroscopy indicated that its biologic activity was silenced in OE21 <span class="disease" id="21509778-5-173-190">esophageal cancer</span> cells. | CTD_human |
2 | 2 | Biomarker | C0015625 | Fanconi Anemia | disease | Fanconi anemia | 2189 | FANCG | FANCG | CTD_human | 10,807,541 | Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. | 0.413158 | Novel mutations of the <span class="gene" id="10807541-0-23-28">FANCG</span> gene causing alternative splicing in Japanese <span class="disease" id="10807541-0-75-89">Fanconi anemia</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D008107 | null | null | liver carcinogenesis | 24817 | null | Hnf1a | null | 28,013,212 | Importantly, the results of the present study show an association between gene-specific histone H3K9 deacetylation and a reduced expression of critical cancer-related genes, including prospero homeobox 1 (Prox1), HNF1 homebox A (Hnf1a), and peroxisome proliferator activated receptor alpha (Ppara), which provides a mechanistic link between methapyrilene-induced epigenetic aberrations and liver carcinogenesis. | null | null | null |
1 | 0 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | AML | 3082 | HGF | HGF | CTD_human | 22,683,780 | Our results show a widespread dependence of AML cells on autocrine activation of MET, as well as the key role of compensatory upregulation of HGF expression in maintaining leukemogenic signaling by this receptor. | 0.203008 | Our results show a widespread dependence of <span class="disease" id="22683780-8-44-47">AML</span> cells on autocrine activation of MET, as well as the key role of compensatory upregulation of <span class="gene" id="22683780-8-142-145">HGF</span> expression in maintaining leukemogenic signaling by this receptor. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | CC | 81687 | null | Mmp9 | null | 28,053,001 | The Collagen1A1, Collagen3A1, Mmp2 and Mmp9 mRNA levels were upregulated only in MEAT in CC. | null | null | null |
null | null | Negative | MESH:D015518 | null | null | Rett syndrome | 3479 | null | IGF-1 | null | 28,110,691 | IGF-1 has started to prove its efficacy in improving symptoms of children with Rett syndrome, a genetic disorder that shares several clinical similarities with ASD. | null | null | null |
null | null | Negative | MESH:D006509 | null | null | MHV | 57762 | null | NS2 | null | 28,003,490 | Here we report that additional coronavirus superfamily members, including lineage A betacoronaviruses and toroviruses infecting both humans and animals, encode 2',5'-PDEs capable of antagonizing RNase L. We used a chimeric MHV system (MHV<sup>Mut</sup>) in which exogenous PDEs were expressed from an MHV backbone lacking the gene for a functional NS2 protein, the endogenous RNase L antagonist. | null | null | null |
1 | 0 | Biomarker | C0001430 | Adenoma | group | adenoma | 6414 | SELENOP | SEPP1 | CTD_human | 18,483,336 | Consistent with the individual SNP results, we observed a significant overall association with adenoma risk for SEPP1 and TXNRD1 (global P = 0.02 and 0.008, respectively) but not for the four GPX genes. | 0.205964 | Consistent with the individual SNP results, we observed a significant overall association with <span class="disease" id="18483336-10-95-102">adenoma</span> risk for <span class="gene" id="18483336-10-112-117">SEPP1</span> and TXNRD1 (global P = 0.02 and 0.008, respectively) but not for the four GPX genes. | CTD_human |
1 | 0 | Therapeutic | C0027720 | Nephrosis | disease | nephrosis | 6647 | SOD1 | Cu, Zn-superoxide dismutase | CTD_human | 2,273,594 | [Effects of human Cu, Zn-superoxide dismutase in aminonucleoside nephrosis--evaluation of the morphology and glomerular basement membrane anionic charge sites]. | 0.2 | [Effects of human <span class="gene" id="2273594-0-18-45">Cu, Zn-superoxide dismutase</span> in aminonucleoside <span class="disease" id="2273594-0-65-74">nephrosis</span>--evaluation of the morphology and glomerular basement membrane anionic charge sites]. | CTD_human |
null | null | Negative | MESH:D006973 | null | null | hypertension | 56632 | null | SphK2 | null | 28,082,452 | Specifically, SphK2 evolves as key player in immune cell trafficking and vascular dysfunction contributing to the development of overt hypertension. | null | null | null |
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