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null | null | Negative | MESH:D003027 | null | null | cluster differentiation | 21898 | null | Toll-like receptor 4 | null | 28,154,251 | Treatment with HSYA also alleviated increased expressions of tumor necrosis factor (TNF)-a, interleukin (IL)-1b, IL-6, transforming growth factor (TGF)-b1, collagen (Col) I, Col III, a-smooth muscle actin (a-SMA), myeloid differentiation (MD)-2, Toll-like receptor 4 (TLR4) and cluster differentiation (CD)14 at the mRNA (RT-PCR) and protein levels (Western blot and enzyme-linked immuno sorbent assay). | null | null | null |
null | null | Negative | MESH:C535338 | null | null | total scrotal irradiation | 1649 | null | CHOP | null | 28,016,176 | Patients who were consecutively treated from 1980-1995 were selected to reflect a change in treatment policy to combined-modality therapy, consisting of brief CHOP type chemotherapy for 3 cycles followed by total scrotal irradiation. | null | null | null |
1 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 348 | APOE | Apolipoprotein E | CTD_human | 16,433,808 | Apolipoprotein E gene polymorphisms are associated with psoriasis but do not determine disease response to acitretin. | 0.208869 | <span class="gene" id="16433808-0-0-16">Apolipoprotein E</span> gene polymorphisms are associated with <span class="disease" id="16433808-0-56-65">psoriasis</span> but do not determine disease response to acitretin. | CTD_human |
4 | 8 | Biomarker | C0796135 | Renpenning syndrome 1 | disease | Renpenning syndrome | 10084 | PQBP1 | PQBP1 | CTD_human | 15,782,410 | In acknowledgement of the historical importance of the original report of Renpenning syndrome [1962], we propose that the entities with PQBP1 mutations be combined under the name of Renpenning syndrome. | 0.402473 | In acknowledgement of the historical importance of the original report of <span class="disease" id="15782410-8-74-93">Renpenning syndrome</span> [1962], we propose that the entities with <span class="gene" id="15782410-8-136-141">PQBP1</span> mutations be combined under the name of <span class="disease" id="15782410-8-182-201">Renpenning syndrome</span>. | CTD_human;UNIPROT |
1 | 0 | Therapeutic | C0242339 | Dyslipidemias | group | dyslipidemia | 338 | APOB | apolipoprotein B-48 | CTD_human | 18,230,960 | Atherogenic dyslipidemia is associated with increased levels of chylomicrons and their remnants containing 3 main components: apolipoprotein B-48, triglycerides and cholesterol ester of intestinal origin. | 0.215774 | Atherogenic <span class="disease" id="18230960-12-12-24">dyslipidemia</span> is associated with increased levels of chylomicrons and their remnants containing 3 main components: <span class="gene" id="18230960-12-126-145">apolipoprotein B-48</span>, triglycerides and cholesterol ester of intestinal origin. | CTD_human |
1 | 0 | Biomarker | C0007222 | Cardiovascular Diseases | group | CVD | 3240 | HP | haptoglobin | CTD_human | 19,769,483 | The haptoglobin (Hp) 2-2 genotype is associated with increased risk of cardiovascular disease (CVD) in diabetes (DM). | 0.216547 | The <span class="gene" id="19769483-1-4-15">haptoglobin</span> (Hp) 2-2 genotype is associated with increased risk of <span class="disease" id="19769483-1-71-93">cardiovascular disease</span> (<span class="disease" id="19769483-1-95-98">CVD</span>) in diabetes (DM). | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 53366 | null | sm2 | null | 28,053,807 | In multivariate analysis, older age, male gender, tumor depth (sm2 and sm3 invasion), and venous invasion were independent risk factors for tumor recurrence. | null | null | null |
28 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small-cell lung cancer | 238 | ALK | ALK | CTD_human | 22,954,507 | Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study. | 0.28 | Activity and safety of crizotinib in patients with <span class="gene" id="22954507-0-51-54">ALK</span>-positive <span class="disease" id="22954507-0-64-90">non-small-cell lung cancer</span>: updated results from a phase 1 study. | CTD_human |
3 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 9378 | NRXN1 | NRXN1 | CTD_human | 21,424,692 | Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. | 0.309747 | Truncating mutations in NRXN2 and <span class="gene" id="21424692-0-34-39">NRXN1</span> in autism spectrum disorders and <span class="disease" id="21424692-0-73-86">schizophrenia</span>. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | Liver dysfunction | 18708 | null | PI3K | null | 28,188,779 | RESULTS: Liver dysfunction, hepatic pathological injury, infiltration of inflammatory cytokines, and hepatocyte apoptosis were observed after hepatic I/R, accompanied by inhibition of the PI3K-Akt pathway. | null | null | null |
2 | 0 | Biomarker | C0043459 | Zellweger Syndrome | disease | Zellweger syndrome | 5190 | PEX6 | PEX6 | CTD_human | 10,408,779 | Most of the mutations led to premature termination or large deletions of the PEX6 protein and resulted in the most severe peroxisome biogenesis disorder phenotype of Zellweger syndrome. | 0.401374 | Most of the mutations led to premature termination or large deletions of the <span class="gene" id="10408779-8-77-81">PEX6</span> protein and resulted in the most severe peroxisome biogenesis disorder phenotype of <span class="disease" id="10408779-8-166-184">Zellweger syndrome</span>. | CTD_human;ORPHANET |
24 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 6647 | SOD1 | SOD1 | CTD_human | 16,495,328 | Mutations in copper/zinc superoxide dismutase 1 (SOD1) are found in approximately 20% of familial and approximately 3% of sporadic ALS cases but are not associated with dementia. | 0.798512 | Mutations in copper/zinc <span class="gene" id="16495328-5-25-47">superoxide dismutase 1</span> (<span class="gene" id="16495328-5-49-53">SOD1</span>) are found in approximately 20% of familial and approximately 3% of sporadic <span class="disease" id="16495328-5-131-134">ALS</span> cases but are not associated with dementia. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D002575 | null | null | CSM | 717;718;720;727;729;730 | null | C2-7 | null | 28,168,336 | CONCLUSIONS: Cervical alignment was compromised after laminoplasty in patients with CSM, and the degree of LCL was associated with preoperative T1 slope, C2-7 SVA, and CVLL. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor-a | 16176 | null | interleukin-1b | null | 28,178,069 | In the present study, our results showed that treatment with montelukast could protect DA neurons against 6-hydroxydopamine (6-OHDA)-induced neurotoxicity and its administration significantly attenuated the production of neurotoxic cytokines such as tumor necrosis factor-a (TNFa) and interleukin-1b (IL-1b) from activated microglia in the substantia nigra (SN) and striatum following 6-OHDA treatment. | null | null | null |
3 | 0 | Biomarker | C0025202 | melanoma | disease | MM | 4157 | MC1R | MC1R | CTD_human | 21,559,390 | Furthermore, individuals carrying two or more mutations in MC1R, a well-known low penetrance melanoma-predisposing gene, had a decreased MM risk if concurrently bearing the SLC45A2 protective variant. | 0.568493 | Furthermore, individuals carrying two or more mutations in <span class="gene" id="21559390-12-59-63">MC1R</span>, a well-known low penetrance <span class="disease" id="21559390-12-93-101">melanoma</span>-predisposing gene, had a decreased <span class="disease" id="21559390-12-137-139">MM</span> risk if concurrently bearing the SLC45A2 protective variant. | CTD_human;HPO |
1 | 0 | Biomarker | C0025202 | melanoma | disease | malignant melanoma | 2739 | GLO1 | GLO1 | CTD_human | 20,093,988 | GLO1 overexpression in human malignant melanoma. | 0.200275 | <span class="gene" id="20093988-0-0-4">GLO1</span> overexpression in human <span class="disease" id="20093988-0-29-47">malignant melanoma</span>. | CTD_human |
null | null | Negative | MESH:D001855 | null | null | bone marrow cells deficient | 22065 | null | Transient Receptor Potential Canonical 3 | null | 28,186,192 | In previous work we reported that ApoeKO mice transplanted with bone marrow cells deficient in the Transient Receptor Potential Canonical 3 (TRPC3) channel have reduced necrosis and number of apoptotic macrophages in advanced atherosclerotic plaques. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumors | 17390 | null | MMP2 | null | 28,098,914 | miR-647 also reduced the expression levels of genes associated with proliferation and metastasis in tumors, including ANK2, FAK, MMP2, MMP12, CD44 and SNAIL1. | null | null | null |
1 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumors | 222546 | RFX6 | RFX6 | CTD_human | 24,390,282 | Finally, we observe a significant association between the risk-associated T allele at rs339331 and increased RFX6 mRNA levels in human prostate tumors. | 0.200275 | Finally, we observe a significant association between the risk-associated T allele at rs339331 and increased <span class="gene" id="24390282-7-109-113">RFX6</span> mRNA levels in human <span class="disease" id="24390282-7-135-150">prostate tumors</span>. | CTD_human |
null | null | Negative | MESH:D014947 | null | null | injury | 93759 | null | SIRT1 | null | 28,193,684 | However, the role of SIRT1 in spinal cord injury (SCI) is unknown. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 114788 | CSMD3 | CSMD3 | CTD_human | 18,270,536 | Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. | 0.200275 | Two patients with balanced translocations and <span class="disease" id="18270536-0-46-63">autistic disorder</span>: <span class="gene" id="18270536-0-65-70">CSMD3</span> as a candidate gene for <span class="disease" id="18270536-0-95-101">autism</span> found in their common 8q23 breakpoint area. | CTD_human |
null | null | Negative | MESH:D065310 | null | null | squamous lesions | 57026 | null | CIN | null | 28,015,575 | METHODS: The expression of p53, Bcl-2 and PCNA proteins were immunohistochemically examined using 31 normal cervical epithelium, 10 low grade squamous lesions (CIN I), 28 high grade squamous lesions (CIN II/III) and 36 invasive squamous cell carcinomas (ISCC). | null | null | null |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 6347 | CCL2 | CCL2 | CTD_human | 20,034,406 | Chemokine CCL2 and its receptor CCR2 are increased in the hippocampus following pilocarpine-induced status epilepticus. | 0.2 | Chemokine <span class="gene" id="20034406-0-10-14">CCL2</span> and its receptor CCR2 are increased in the hippocampus following pilocarpine-induced <span class="disease" id="20034406-0-100-118">status epilepticus</span>. | CTD_human |
2 | 0 | Biomarker | C0006118 | Brain Neoplasms | group | brain tumor | 1029 | CDKN2A | p16 | CTD_human | 15,144,691 | To study in series the p16 protein expression on the rat brain tumor induced transplacentally by ENU. | 0.216156 | To study in series the <span class="gene" id="15144691-1-23-26">p16</span> protein expression on the rat <span class="disease" id="15144691-1-57-68">brain tumor</span> induced transplacentally by ENU. | CTD_human |
null | null | Negative | MESH:C536108 | null | null | aminopeptidase N | 2028 | null | aminopeptidase A | null | 28,174,624 | BACKGROUND: Serum peptidases, such as angiotensin-converting enzyme (ACE), angiotensin-converting enzyme-2 (ACE2), neutral endopeptidase (NEP), aminopeptidase N (APN), and aminopeptidase A (APA), are important elements of the renin-angiotensin system (RAS). | null | null | null |
1 | 0 | Biomarker | C0008441 | Chondroblastoma | disease | chondroblastoma | 3021 | H3F3B | H3F3B | CTD_human | 24,162,739 | Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. | 0.200549 | Distinct H3F3A and <span class="gene" id="24162739-0-19-24">H3F3B</span> driver mutations define <span class="disease" id="24162739-0-49-64">chondroblastoma</span> and giant cell tumor of bone. | CTD_human |
1 | 0 | Biomarker | C0007193 | Cardiomyopathy, Dilated | group | dilated cardiomyopathy | 5894 | RAF1 | RAF1 | CTD_human | 24,777,450 | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 0.400275 | <span class="gene" id="24777450-0-0-4">RAF1</span> mutations in childhood-onset <span class="disease" id="24777450-0-34-56">dilated cardiomyopathy</span>. | CTD_human;HPO |
6 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small-cell lung cancer | 27436 | EML4 | EML4 | CTD_human | 17,625,570 | Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. | 0.236264 | Identification of the transforming <span class="gene" id="17625570-0-35-39">EML4</span>-ALK fusion gene in <span class="disease" id="17625570-0-59-85">non-small-cell lung cancer</span>. | CTD_human |
null | null | Negative | MESH:D020512 | null | null | CP | 1769 | null | ATPase | null | 28,115,689 | The base of the RP is formed by a heterohexameric AAA<sup>+</sup>ATPase module, which unfolds and translocates substrates into the CP. | null | null | null |
null | null | Negative | MESH:C538054 | null | null | aerobic training | 3479 | null | insulin-like growth factor 1 | null | 28,205,203 | OBJECTIVES: To investigate the influence of resistance training (RT), aerobic training (AT), or combination training (CT) interventions on the body composition, muscle strength performance, and insulin-like growth factor 1 (IGF-1) of patients with sarcopenic obesity. | null | null | null |
1 | 0 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson's disease | 4015 | LOX | lysyl oxidase | CTD_human | 16,023,247 | Abnormal deposition of collagen around hepatocytes in Wilson's disease is associated with hepatocyte specific expression of lysyl oxidase and lysyl oxidase like protein-2. | 0.203282 | Abnormal deposition of collagen around hepatocytes in <span class="disease" id="16023247-0-54-70">Wilson's disease</span> is associated with hepatocyte specific expression of <span class="gene" id="16023247-0-124-137">lysyl oxidase</span> and lysyl oxidase like protein-2. | CTD_human |
null | null | Negative | MESH:D005955 | null | null | phosphate-buffered saline | 29197 | null | rIL-18 | null | 28,176,248 | Three groups of normal chow diet-fed, male Apo E-/- mice, aged 12 weeks (n = 6/group) were employed: Gp I, phosphate-buffered saline (PBS) (2 mo): Gp II, recombinant IL-18 (rIL-18) (1 mo) followed by PBS (1 mo); Gp III, rIL-18 (1 mo) followed by pyrrolidine dithiocarbamate (PDTC) (1 mo). | null | null | null |
2 | 0 | Biomarker | C0037286 | Skin Neoplasms | group | skin tumor | 4953 | ODC1 | ODC | CTD_human | 2,591,024 | The induction of epidermal ornithine decarboxylase (ODC) activity by benzoyl peroxide (BPO) was characterized to evaluate the usefulness of this effect as a short-term marker of BPO-induced mouse skin tumor promotion. | 0.200275 | The induction of epidermal <span class="gene" id="2591024-1-27-50">ornithine decarboxylase</span> (<span class="gene" id="2591024-1-52-55">ODC</span>) activity by benzoyl peroxide (BPO) was characterized to evaluate the usefulness of this effect as a short-term marker of BPO-induced mouse <span class="disease" id="2591024-1-196-206">skin tumor</span> promotion. | CTD_human |
null | null | Negative | MESH:D003876 | null | null | atopic dermatitis | 16396 | null | itch | null | 28,176,353 | ABSTRACT: Intractable and continuous itch sensations often accompany diseases such as atopic dermatitis, neurogenic lesions, uremia and cholestasis. | null | null | null |
null | null | Negative | MESH:D014842 | null | null | haemostatic protein von Willebrand | 7450 | null | VWF | null | 28,004,844 | Biogenesis of the WPB occurs at the Golgi apparatus in a process that is dependent on the main component of the WPB, the haemostatic protein von Willebrand Factor (VWF). | null | null | null |
3 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 5444 | PON1 | paraoxonase 1 | CTD_human | 16,297,937 | High levels of homocysteine and low serum paraoxonase 1 arylesterase activity in children with autism. | 0.200549 | High levels of homocysteine and low serum <span class="gene" id="16297937-0-42-55">paraoxonase 1</span> arylesterase activity in children with <span class="disease" id="16297937-0-95-101">autism</span>. | CTD_human |
4 | 0 | Biomarker | C0026847 | Spinal Muscular Atrophy | disease | SMA | 6606 | SMN1 | SMN | CTD_human | 15,862,279 | Depletion of SMN protein by RNA interference in control fibroblasts increased caspase-3 activity, whereas transfection of SMA fibroblasts with wild-type SMN decreased caspase-3 activity. | 0.569786 | Depletion of <span class="gene" id="15862279-7-13-16">SMN</span> protein by RNA interference in control fibroblasts increased caspase-3 activity, whereas transfection of <span class="disease" id="15862279-7-122-125">SMA</span> fibroblasts with wild-type <span class="gene" id="15862279-7-153-156">SMN</span> decreased caspase-3 activity. | CTD_human;HPO |
1 | 0 | Therapeutic | C0020473 | Hyperlipidemia | disease | lipidemia | 5465 | PPARA | PPAR? | CTD_human | 21,640,707 | Activation of peroxisome proliferator-activated receptor-? (PPAR?) suppresses postprandial lipidemia through fatty acid oxidation in enterocytes. | 0.204605 | Activation of <span class="gene" id="21640707-0-14-58">peroxisome proliferator-activated receptor-α</span> (<span class="gene" id="21640707-0-60-65">PPARα</span>) suppresses postprandial <span class="disease" id="21640707-0-91-100">lipidemia</span> through fatty acid oxidation in enterocytes. | CTD_human |
null | null | Negative | MESH:D054179 | null | null | Hereditary angioedema | 710;3183 | null | C1-INH | null | 28,178,173 | Hereditary angioedema (HAE) with deficiency of C1 inhibitor (C1-INH) is an autosomal-dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. | null | null | null |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | ESCC | 3860 | KRT13 | KRT13 | CTD_human | 21,517,111 | Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in ESCC. | 0.200275 | Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), <span class="gene" id="21517111-5-275-285">keratin 13</span> (<span class="gene" id="21517111-5-287-292">KRT13</span>), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in <span class="disease" id="21517111-5-500-504">ESCC</span>. | CTD_human |
28 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 238 | ALK | ALK | CTD_human | 21,102,269 | Rapid and dramatic radiographic and clinical response to an ALK inhibitor (crizotinib, PF02341066) in an ALK translocation-positive patient with non-small cell lung cancer. | 0.28 | Rapid and dramatic radiographic and clinical response to an <span class="gene" id="21102269-0-60-63">ALK</span> inhibitor (crizotinib, PF02341066) in an <span class="gene" id="21102269-0-105-108">ALK</span> translocation-positive patient with <span class="disease" id="21102269-0-145-171">non-small cell lung cancer</span>. | CTD_human |
null | null | Negative | MESH:D015470 | null | null | AML | 12608 | null | CEBPB | null | 28,068,328 | Finally, CEBPB-mediated transdifferentation of committed and otherwise leukemia-incompetent B-cell progenitors imbued these cells with leukemic competence for AML. | null | null | null |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplastic syndromes | 8877 | SPHK1 | SPHK1 | CTD_human | 18,283,525 | We recently reported increased sphingosine kinase 1 (SPHK1) and decreased neutral sphingomyelinase 2 (NSMase2) gene expression in myelodysplastic syndromes and acute leukemia. | 0.2 | We recently reported increased <span class="gene" id="18283525-1-31-51">sphingosine kinase 1</span> (<span class="gene" id="18283525-1-53-58">SPHK1</span>) and decreased neutral sphingomyelinase 2 (NSMase2) gene expression in <span class="disease" id="18283525-1-130-155">myelodysplastic syndromes</span> and acute leukemia. | CTD_human |
1 | 0 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson's disease | 4017 | LOXL2 | lysyl oxidase like protein-2 | CTD_human | 16,023,247 | Abnormal deposition of collagen around hepatocytes in Wilson's disease is associated with hepatocyte specific expression of lysyl oxidase and lysyl oxidase like protein-2. | 0.203008 | Abnormal deposition of collagen around hepatocytes in <span class="disease" id="16023247-0-54-70">Wilson's disease</span> is associated with hepatocyte specific expression of lysyl oxidase and <span class="gene" id="16023247-0-142-170">lysyl oxidase like protein-2</span>. | CTD_human |
null | null | Negative | MESH:D019636 | null | null | neurodegeneration | 19255 | null | MPTP | null | 28,178,510 | Eight weeks after transplantation, the mice were injected with the neurotoxin, MPTP, for 7 days to induce dopaminergic neurodegeneration. | null | null | null |
null | null | Negative | MESH:D009410 | null | null | neuron death | 41957 | null | Akt | null | 28,011,637 | Our results suggest that a self-amplifying feed-forward loop among Trib3, Akt, and FoxO1 in Ab-treated neurons induces both apoptosis and autophagy, culminating in neuron death. | null | null | null |
1 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 2052 | EPHX1 | mEPHX | CTD_human | 9,288,046 | The proportion of individuals with innate slow mEPHX activity (homozygotes) was significantly higher in both the COPD group and the emphysema group than in the control group (COPD 13 [19%] vs control 13 [6%]; emphysema 21 [22%] vs 13 [6%]). | 0.252048 | The proportion of individuals with innate slow <span class="gene" id="9288046-5-47-52">mEPHX</span> activity (homozygotes) was significantly higher in both the <span class="disease" id="9288046-5-113-117">COPD</span> group and the emphysema group than in the control group (COPD 13 [19%] vs control 13 [6%]; emphysema 21 [22%] vs 13 [6%]). | CTD_human |
2 | 0 | Biomarker | C0008370 | Cholestasis | disease | cholestasis | 9971 | NR1H4 | FXR | CTD_human | 23,178,280 | FXR deficiency in mice results in cholestasis, metabolic disorders, and tumorigenesis in liver and intestine. | 0.20603 | <span class="gene" id="23178280-2-0-3">FXR</span> deficiency in mice results in <span class="disease" id="23178280-2-34-45">cholestasis</span>, metabolic disorders, and tumorigenesis in liver and intestine. | CTD_human |
1 | 3 | Biomarker | C0152013 | Adenocarcinoma of lung (disorder) | disease | lung adenocarcinoma | 8626 | TP63 | TP63 | CTD_human | 24,880,342 | We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. | 0.202198 | We also showed an association between common variation at 3q28 (<span class="gene" id="24880342-3-64-68">TP63</span>, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and <span class="disease" id="24880342-3-117-136">lung adenocarcinoma</span> that had been previously reported only in Asians. | CTD_human |
null | null | Negative | MESH:D003677 | null | null | deficiency | 2592 | null | GALT | null | 28,078,493 | Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. | null | null | null |
null | null | Negative | MESH:D009765 | null | null | obesity | 100861189 | null | ghrelin | null | 28,003,581 | These results suggest that triterpenes may have the potential as obesity-preventing agents with suppressive effect on octanoylated ghrelin production. | null | null | null |
1 | 6 | Biomarker | C1876203 | Frontonasal dysplasia | disease | frontonasal dysplasia | 257 | ALX3 | ALX3 | CTD_human | 19,409,524 | Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. | 0.601374 | <span class="disease" id="19409524-0-0-11">Frontorhiny</span>, a distinctive presentation of <span class="disease" id="19409524-0-43-64">frontonasal dysplasia</span> caused by recessive mutations in the <span class="gene" id="19409524-0-102-106">ALX3</span> homeobox gene. | CTD_human;ORPHANET;UNIPROT |
16 | 8 | Biomarker | C0003076 | Aniridia | disease | aniridia | 5080 | PAX6 | Pax6 | CTD_human | 18,322,702 | Pax6 3' deletion results in aniridia, autism and mental retardation. | 0.729422 | <span class="gene" id="18322702-0-0-4">Pax6</span> 3' deletion results in <span class="disease" id="18322702-0-28-36">aniridia</span>, autism and mental retardation. | CTD_human;HPO;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | MetS | 6462 | SHBG | SHBG | CTD_human | 16,968,811 | Further studies are needed to support the notion that raising SHBG is a potential therapeutic target for prevention and treatment of MetS. | 0.203571 | Further studies are needed to support the notion that raising <span class="gene" id="16968811-13-62-66">SHBG</span> is a potential therapeutic target for prevention and treatment of <span class="disease" id="16968811-13-133-137">MetS</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 12367 | null | caspase 3 | null | 28,055,017 | Our data demonstrated that s-RNY/Ro60 complex induces caspase 3-dependent cell death and NF-kB-dependent inflammation, when added to the medium of cultured monocytes/macrophages. | null | null | null |
null | null | Negative | MESH:D020244 | null | null | middle cerebral artery occlusion | 83619 | null | Nrf2 | null | 28,169,530 | This study investigates the ability of intranasal Z-LIG pretreatment to enhance protection against neuronal damage in rats with middle cerebral artery occlusion (MCAO) and the role of cellular stress response mechanisms Nrf2 and HSP70. | null | null | null |
null | null | Negative | MESH:D007238 | null | null | infarcts | 23435 | null | TDP-43 | null | 28,082,297 | macro- and microscopic infarcts, atherosclerosis, arteriolar sclerosis, and cerebral amyloid angiopathy), Lewy bodies, transactive response DNA-binding protein 43 (TDP-43) pathology, and hippocampal sclerosis. | null | null | null |
null | null | Negative | MESH:D001168 | null | null | inflammatory arthritis | 21926 | null | TNFa | null | 28,188,029 | Here we use mice with TNFa-induced inflammatory arthritis, a model of rheumatoid arthritis, to identify the roles of PAD2 and PAD4 in citrullination, NETosis, and arthritis. | null | null | null |
2 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 8000 | PSCA | PSCA | CTD_human | 20,083,643 | Genetic variation in PSCA and bladder cancer susceptibility in a Chinese population. | 0.204121 | Genetic variation in <span class="gene" id="20083643-0-21-25">PSCA</span> and <span class="disease" id="20083643-0-30-44">bladder cancer</span> susceptibility in a Chinese population. | CTD_human |
1 | 0 | Therapeutic | C0596263 | Carcinogenesis | phenotype | tumorigenesis | 406986 | MIR203A | miR-203 | CTD_human | 23,968,727 | Hyper-methylated miR-203 dysregulates ABL1 and contributes to the nickel-induced tumorigenesis. | 0.201374 | Hyper-methylated <span class="gene" id="23968727-0-17-24">miR-203</span> dysregulates ABL1 and contributes to the nickel-induced <span class="disease" id="23968727-0-81-94">tumorigenesis</span>. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 22,214,961 | Airway resistance, inflammation and oxidative stress following exposure to diesel exhaust particle in angiotensin II-induced hypertension in mice. | 0.52 | Airway resistance, inflammation and oxidative stress following exposure to diesel exhaust particle in <span class="gene" id="22214961-0-102-116">angiotensin II</span>-induced <span class="disease" id="22214961-0-125-137">hypertension</span> in mice. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 6720 | SREBF1 | SREBP-1 | CTD_human | 10,900,012 | SREBP-1 overexpression, which is prevented by troglitazone, may play a role in the ectopic lipogenesis and lipotoxicity complicating obesity in Zucker diabetic fatty rats. | 0.211891 | <span class="gene" id="10900012-9-0-7">SREBP-1</span> overexpression, which is prevented by troglitazone, may play a role in the ectopic lipogenesis and lipotoxicity complicating <span class="disease" id="10900012-9-133-140">obesity</span> in Zucker diabetic fatty rats. | CTD_human |
35 | 84 | Biomarker | C0022716 | Menkes Kinky Hair Syndrome | disease | MNK | 538 | ATP7A | ATP7A | CTD_human | 14,579,150 | The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. | 0.727934 | The genes for two copper-transporting ATPases, <span class="gene" id="14579150-1-47-52">ATP7A</span> and ATP7B, are defective in the heritable disorders of copper imbalance, <span class="disease" id="14579150-1-126-140">Menkes disease</span> (<span class="disease" id="14579150-1-142-145">MNK</span>) and Wilson disease (WND), respectively. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0031117 | Peripheral Neuropathy | group | PN | 1780 | DYNC1I1 | DYNC1I1 | CTD_human | 21,228,734 | Genes associated with immune function (CTLA4, CTSS), reflexive coupling within Schwann cells (GJE1), drug binding (PSMB1), and neuron function (TCF4, DYNC1I1) associated with bortezomib-induced PN in this study. | 0.200275 | Genes associated with immune function (CTLA4, CTSS), reflexive coupling within Schwann cells (GJE1), drug binding (PSMB1), and neuron function (TCF4, <span class="gene" id="21228734-10-150-157">DYNC1I1</span>) associated with bortezomib-induced <span class="disease" id="21228734-10-194-196">PN</span> in this study. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 382056 | null | mTORC1 | null | 28,178,522 | Here, we demonstrate that MNK sustains mTORC1 activity following rapamycin treatment and contributes to mTORC1 signaling following T cell activation and growth stimuli in cancer cells. | null | null | null |
3 | 0 | Biomarker | C0009375 | Colonic Neoplasms | group | colon tumor | 5743 | PTGS2 | cyclooxygenase-2 | CTD_human | 21,081,470 | Western blots revealed overexpression of ?-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and cyclooxygenase-2 in colon tumor samples. | 0.240473 | Western blots revealed overexpression of β-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and <span class="gene" id="21081470-8-106-122">cyclooxygenase-2</span> in <span class="disease" id="21081470-8-126-137">colon tumor</span> samples. | CTD_human |
null | null | Negative | MESH:C536108 | null | null | aminopeptidase N | 4311 | null | NEP | null | 28,174,624 | BACKGROUND: Serum peptidases, such as angiotensin-converting enzyme (ACE), angiotensin-converting enzyme-2 (ACE2), neutral endopeptidase (NEP), aminopeptidase N (APN), and aminopeptidase A (APA), are important elements of the renin-angiotensin system (RAS). | null | null | null |
null | null | Negative | MESH:D014652 | null | null | deficiency impairs vascular maturation | 18131 | null | Notch3 | null | 28,131,704 | OBJECTIVE: This study is to test whether Notch3 deficiency impairs vascular maturation and blunts cardiac functional recovery post-MI. | null | null | null |
1 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 1237 | CCR8 | CCR8 | CTD_human | 17,181,556 | CCR7, CCR8, CCR9 and CCR10 in the mouse hippocampal CA1 area and the dentate gyrus during and after pilocarpine-induced status epilepticus. | 0.2 | CCR7, <span class="gene" id="17181556-0-6-10">CCR8</span>, CCR9 and CCR10 in the mouse hippocampal CA1 area and the dentate gyrus during and after pilocarpine-induced <span class="disease" id="17181556-0-120-138">status epilepticus</span>. | CTD_human |
1 | 0 | Biomarker | C0152013 | Adenocarcinoma of lung (disorder) | disease | lung adenocarcinoma | 7508 | XPC | xeroderma pigmentosum complementation group C | CTD_human | 21,327,329 | Expression of xeroderma pigmentosum complementation group C protein predicts cisplatin resistance in lung adenocarcinoma patients. | 0.200549 | Expression of <span class="gene" id="21327329-0-14-59">xeroderma pigmentosum complementation group C</span> protein predicts cisplatin resistance in <span class="disease" id="21327329-0-101-120">lung adenocarcinoma</span> patients. | CTD_human |
null | null | Negative | MESH:C538265 | null | null | attenuates atherosclerosis | 57314 | null | Th1 | null | 28,181,012 | These results indicate that R037 attenuates atherosclerosis by inducing tolerogenic DCs, which suppress Th1-driven inflammation and the proliferative activity of CD4<sup>+</sup> T cells. | null | null | null |
null | null | Negative | OMIM:604588 | null | null | mitosis | 115207 | null | pfetin | null | 28,020,938 | According to multivariate analysis using these 5 factors, tumor mitosis and pfetin were the most significant risk (p=0.059). | null | null | null |
2 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 3294 | HSD17B2 | HSD17B2 | CTD_human | 18,815,356 | In 8-Br-cAMP-treated hESF from eutopic endometrium of women with endometriosis, the balance in estradiol (E2) and P4 biosynthetic and metabolizing enzymes is disturbed (decreased HSD3B1 and HSD17B2, and increased HSD17B1 and aromatase), with the equilibrium being shifted towards an E2-enriched milieu. | 0.20629 | In 8-Br-cAMP-treated hESF from eutopic endometrium of women with <span class="disease" id="18815356-5-65-78">endometriosis</span>, the balance in estradiol (E2) and P4 biosynthetic and metabolizing enzymes is disturbed (decreased HSD3B1 and <span class="gene" id="18815356-5-190-197">HSD17B2</span>, and increased HSD17B1 and aromatase), with the equilibrium being shifted towards an E2-enriched milieu. | CTD_human |
null | null | Negative | MESH:D005512 | null | null | food allergy | 3497 | null | IgE | null | 28,213,955 | OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE-mediated food allergy. | null | null | null |
1 | 0 | Biomarker | C0013336 | Dwarfism | disease | dwarfism | 7038 | TG | thyroglobulin | CTD_human | 24,582,622 | A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats. | 0.200275 | A novel mutation in the <span class="gene" id="24582622-0-24-37">thyroglobulin</span> gene that causes goiter and <span class="disease" id="24582622-0-66-74">dwarfism</span> in Wistar Hannover GALAS rats. | CTD_human |
8 | 5 | Biomarker | C0221043 | Liddle Syndrome | disease | Liddle's syndrome | 6338 | SCNN1B | SCNN1B | CTD_human | 18,398,334 | The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome. | 0.683022 | The aim of the study was to search for mutations of <span class="gene" id="18398334-1-52-58">SCNN1B</span> and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with <span class="disease" id="18398334-1-179-196">Liddle's syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D009369 | null | null | tumor | 24887 | null | Bax | null | 28,152,042 | Western blot analysis was performed to determine protein expression of high-mobility group box 1 (HMGB1), toll-like receptor-4 (TLR-4), phosphorylated nuclear factor-kappa B (p-NF-kB), interleukin-1beta (IL-1b), tumor necrosis factor-alpha (TNF-a), phosphorylated inducible and endothelial nitric oxide synthase (p-iNOS, p-eNOS), Bcl-2, Bax, Cytochrome C, and caspase-3 in the brain. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor a | 24494 | null | interleukin-1b | 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 |
2 | 0 | Therapeutic | C0878544 | Cardiomyopathies | group | cardiomyopathy | 3082 | HGF | hepatocyte growth factor | CTD_human | 18,083,897 | Treatment with an adenoviral vector encoding hepatocyte growth factor mitigates established cardiac dysfunction in doxorubicin-induced cardiomyopathy. | 0.200824 | Treatment with an adenoviral vector encoding <span class="gene" id="18083897-0-45-69">hepatocyte growth factor</span> mitigates established cardiac dysfunction in doxorubicin-induced <span class="disease" id="18083897-0-135-149">cardiomyopathy</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammatory cell infiltration | 17395 | null | matrix metalloproteinase-9 | null | 28,062,506 | Decreased inflammatory cell infiltration and a reduction in the expression of wingless-type mouse mammary virus integration site/b-catenin responsive genes, including matrix metalloproteinase-9, osteoprotegerin, and osteopontin, were observed in the aortas of SOST(Tg) .ApoE(-/-) mice. | null | null | null |
1 | 0 | Biomarker | C0019829 | Hodgkin Disease | disease | Hodgkin lymphoma | 5770 | PTPN1 | PTPN1 | CTD_human | 24,531,327 | Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma. | 0.200275 | Recurrent somatic mutations of <span class="gene" id="24531327-0-31-36">PTPN1</span> in primary mediastinal B cell lymphoma and <span class="disease" id="24531327-0-80-96">Hodgkin lymphoma</span>. | CTD_human |
3 | 5 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 149233 | IL23R | IL23R | CTD_human | 24,212,883 | We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance. | 0.270331 | We discovered two independent missense SNVs in <span class="gene" id="24212883-2-47-52">IL23R</span> and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with <span class="disease" id="24212883-2-161-170">psoriasis</span> at genome-wide significance. | CTD_human |
null | null | Negative | MESH:D008545 | null | null | melanoma | 13190 | null | tyrosinase-related protein-2 | null | 28,130,732 | In addition, Pt5 inhibited the expression of TYR, tyrosinase-related protein-1 (TRP-1), tyrosinase-related protein-2 (TRP-2), and microphthalmia-associated transcription factor (MITF) in B16F10 melanoma cells and reduced the intracellular cyclic adenosine monophosphate (cAMP) concentration in the cells, but it did not affect the cellular contents of pERK1/2 and b-catenin, suggesting that Pt5 regulates melanin biosynthesis via cAMP signaling pathway rather than Wnt and MAPK pathways. | null | null | null |
null | null | Negative | MESH:D003922 | null | null | T1D | 21803 | null | TGF-b | null | 28,110,219 | Considering immunomodulatory effect of MSC, in this study, we engineered MSCs with TGF-b gene to increase MSC potency for T1D therapy in mouse model. | null | null | null |
2 | 0 | Biomarker | C0014084 | Enchondromatosis | disease | Ollier disease | 3417 | IDH1 | IDH1 | CTD_human | 22,057,234 | Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. | 0.601923 | Somatic mosaic <span class="gene" id="22057234-0-15-19">IDH1</span> and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in <span class="disease" id="22057234-0-102-116">Ollier disease</span> and Maffucci syndrome. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D064420 | null | null | cytotoxicity | 15978 | null | interferon-gamma | null | 28,186,087 | We found that BV directly stimulated NK cells, induced the expression of the activation marker CD69 and promoted interferon-gamma (IFN-y) production and cytotoxicity. | null | null | null |
1 | 0 | Biomarker | C0038525 | Subarachnoid Hemorrhage | disease | SAH | 134 | ADORA1 | AR-A1 | CTD_human | 18,950,269 | Interestingly, E2 appears to effectively prevent cerebral vasospasm subsequent to SAH as well as attenuate secondary injury by reducing both apoptosis and a compensatory increase in AR-A1 expression in the dentate gyrus. | 0.2 | Interestingly, E2 appears to effectively prevent cerebral vasospasm subsequent to <span class="disease" id="18950269-14-82-85">SAH</span> as well as attenuate secondary injury by reducing both apoptosis and a compensatory increase in <span class="gene" id="18950269-14-182-187">AR-A1</span> expression in the dentate gyrus. | CTD_human |
null | null | Negative | MESH:D028361 | null | null | mitochondrial structural deficits | 83619 | null | Nrf2 | null | 28,002,926 | Conclusion: Antioxidant defense systems of old rats were compromised by Nrf2 deficiency, which could lead to the deleterious accumulation and release of ROS and probably mitochondrial structural deficits in aged tongue tissues. | null | null | null |
4 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder tumors | 7157 | TP53 | p53 tumor suppressor | CTD_human | 9,610,789 | We examined 19 cyclophosphamide-related bladder tumors to test the hypothesis that they might contain somatic mutations in the p53 tumor suppressor gene that could link a specific metabolite to the etiology of these cancers. | 0.399216 | We examined 19 cyclophosphamide-related <span class="disease" id="9610789-3-40-54">bladder tumors</span> to test the hypothesis that they might contain somatic mutations in the <span class="gene" id="9610789-3-127-147">p53 tumor suppressor</span> gene that could link a specific metabolite to the etiology of these cancers. | CTD_human |
null | null | Negative | MESH:D001064 | null | null | pediatric appendicitis | 1401 | null | C-reactive protein | null | 28,044,133 | To evaluate the performance of ultrasound in pediatric appendicitis and the integration of US with the pediatric appendicitis score (PAS) and C-reactive protein (CRP). | null | null | null |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | Glioblastoma | 51426 | POLK | DNA Polymerase Kappa | CTD_human | 26,651,356 | Kynurenine Signaling Increases DNA Polymerase Kappa Expression and Promotes Genomic Instability in Glioblastoma Cells. | 0.200275 | Kynurenine Signaling Increases <span class="gene" id="26651356-0-31-51">DNA Polymerase Kappa</span> Expression and Promotes Genomic Instability in <span class="disease" id="26651356-0-99-111">Glioblastoma</span> Cells. | CTD_human |
null | null | Negative | MESH:C564276 | null | null | TCP gains | 6554 | null | NTCP | null | 28,038,272 | Simulation for one time iso- NTCP DGART starts after half of the total dose was done for 10 patients to investigate if TCP gains could be achieved. | null | null | null |
2 | 0 | Therapeutic | C0005695 | Bladder Neoplasm | disease | bladder cancer | 3558 | IL2 | interleukin 2 | CTD_human | 3,495,671 | Reduction of bladder cancer growth in mice treated with intravesical Bacillus Calmette Guerin and systemic interleukin 2. | 0.201648 | Reduction of <span class="disease" id="3495671-0-13-27">bladder cancer</span> growth in mice treated with intravesical Bacillus Calmette Guerin and systemic <span class="gene" id="3495671-0-107-120">interleukin 2</span>. | CTD_human |
2 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 3569 | IL6 | IL-6 | CTD_human | 20,141,834 | Dietary and genetic obesity promote liver inflammation and tumorigenesis by enhancing IL-6 and TNF expression. | 0.376374 | Dietary and genetic <span class="disease" id="20141834-0-20-27">obesity</span> promote liver inflammation and tumorigenesis by enhancing <span class="gene" id="20141834-0-86-90">IL-6</span> and TNF expression. | CTD_human |
5 | 0 | Biomarker | C0151744 | Myocardial Ischemia | disease | myocardial ischemia | 7422 | VEGFA | VEGF | CTD_human | 14,503,966 | These results indicate an arteriogenic effect of VEGF in a large mammalian model of myocardial ischemia and encourage the use of VEGF to promote arteriolar growth in patients with severe coronary artery disease. | 0.210649 | These results indicate an arteriogenic effect of <span class="gene" id="14503966-8-49-53">VEGF</span> in a large mammalian model of <span class="disease" id="14503966-8-84-103">myocardial ischemia</span> and encourage the use of <span class="gene" id="14503966-8-129-133">VEGF</span> to promote arteriolar growth in patients with severe coronary artery disease. | CTD_human |
null | null | Negative | MESH:D006935 | null | null | hypercapnia | 17708 | null | COX-1 | null | 28,137,973 | We demonstrate that hypercapnia (increased CO2) evokes an increase in astrocyte [Ca2+]i and stimulates COX-1 activity. | null | null | null |
6 | 8 | Biomarker | C0028754 | Obesity | disease | obesity | 79068 | FTO | FTO | CTD_human | 19,151,714 | In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)). | 0.36 | In addition to <span class="gene" id="19151714-3-15-18">FTO</span> and MC4R, we detected significant association of <span class="disease" id="19151714-3-68-75">obesity</span> with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)). | CTD_human |
2 | 0 | Biomarker | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | disease | Acute lymphoblastic leukemia | 4297 | KMT2A | MLL | CTD_human | 24,736,461 | Acute lymphoblastic leukemia in infants (< 1 year-of-age) is characterized by a high incidence of MLL rearrangements. | 0.330131 | <span class="disease" id="24736461-1-0-28">Acute lymphoblastic leukemia</span> in infants (< 1 year-of-age) is characterized by a high incidence of <span class="gene" id="24736461-1-98-101">MLL</span> rearrangements. | CTD_human |
1 | 0 | Biomarker | C0024115 | Lung diseases | group | lung disease | 9446 | GSTO1 | GSTO1-1 | CTD_human | 22,293,942 | The polymorphism A140D of GSTO1-1 has been not only associated with distinct urinary profile of arsenic metabolites in populations chronically exposed to iAs in drinking water, but also with higher risk of childhood leukemia and lung disease in non-exposed populations, suggesting that GSTO1-1 involvement in other physiologic processes different from toxics metabolism could be more relevant than is thought. | 0.200275 | The polymorphism A140D of <span class="gene" id="22293942-4-26-33">GSTO1-1</span> has been not only associated with distinct urinary profile of arsenic metabolites in populations chronically exposed to iAs in drinking water, but also with higher risk of childhood leukemia and <span class="disease" id="22293942-4-229-241">lung disease</span> in non-exposed populations, suggesting that <span class="gene" id="22293942-4-286-293">GSTO1-1</span> involvement in other physiologic processes different from toxics metabolism could be more relevant than is thought. | CTD_human |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | glioblastomas | 2335 | FN1 | fibronectin | CTD_human | 17,099,729 | Transglutaminase 2 inhibitor, KCC009, disrupts fibronectin assembly in the extracellular matrix and sensitizes orthotopic glioblastomas to chemotherapy. | 0.202198 | Transglutaminase 2 inhibitor, KCC009, disrupts <span class="gene" id="17099729-0-47-58">fibronectin</span> assembly in the extracellular matrix and sensitizes orthotopic <span class="disease" id="17099729-0-122-135">glioblastomas</span> to chemotherapy. | CTD_human |