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1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 221035 | REEP3 | REEP3 | CTD_human | 17,290,275 | Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. | 0.203008 | Identification and characterization of the TRIP8 and <span class="gene" id="17290275-0-53-58">REEP3</span> genes on chromosome 10q21.3 as novel candidate genes for <span class="disease" id="17290275-0-116-122">autism</span>. | CTD_human |
null | null | Negative | MESH:D000386 | null | null | ARC | 29191 | null | neurokinin B | null | 28,009,489 | Neurones expressing kisspeptin, neurokinin B and dynorphin A, located in the arcuate nucleus of the hypothalamus (ARC), are important regulators of reproduction. | null | null | null |
null | null | Negative | MESH:D007079 | null | null | ileitis | 170750 | null | SAMP | null | 28,125,562 | Recently, we determined that the genetic deletion of the NOD2 gene decreased the severity of Th2-mediated chronic inflammation in a mouse strain characterized by suffering CD-like spontaneous progressive ileitis (SAMP1Yit/Fc; SAMP). | null | null | null |
null | null | Negative | MESH:D005316 | null | null | distress | 2234 | null | Feb 2 | null | 28,022,557 | METHODS: From Feb 2 to Apr 7, 2007, office patients were asked to rate their distress objectively using the validated distress scale developed by the National Comprehensive Cancer Network (NCCN). | null | null | null |
null | null | Negative | MESH:D009410 | null | null | neuronal loss | 15235 | null | Mst1 | null | 28,210,902 | In conclusion, the present study demonstrated that deletion of Mst1 attenuated neuronal loss and improved locomotor function in a mouse model of SCI, via preserving mitochondrial function, attenuating mitochondria-mediated apoptotic pathway, and suppressing inflammation, at least in part. | null | null | null |
null | null | Negative | MESH:D062787 | null | null | overdose | 26413 | null | extracellular signal-regulated kinase | null | 28,081,632 | Significantly, BA treatment can also decrease hepatic phosphorylated extracellular signal-regulated kinase (ERK) expression, which is induced by APAP overdose. | null | null | null |
null | null | Negative | MESH:D004679 | null | null | encephalomyelitis | 17441 | null | MOG | null | 28,147,248 | We studied whether prolonged electrical microstimulation of a hindbrain region (the nucleus raphe magnus) can attenuate experimental autoimmune encephalomyelitis, a murine model of MS induced by MOG<sub>35-55</sub>injection. | null | null | null |
null | null | Negative | MESH:D012893 | null | null | SE | 5673 | null | PSG | null | 28,199,710 | There was no statistically significant effect for PSG SE (p = .07). | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancers | 18708 | null | PI3K | null | 28,003,307 | Purpose: Metastatic breast cancers continue to elude current therapeutic strategies, including those utilizing PI3K inhibitors. | null | null | null |
2 | 0 | Biomarker | C3714756 | Intellectual Disability | group | intellectual disability | 284058 | KANSL1 | KANSL1 | CTD_human | 22,544,363 | We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. | 0.200824 | We show that haploinsufficiency of <span class="gene" id="22544363-1-35-41">KANSL1</span> is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by <span class="disease" id="22544363-1-142-165">intellectual disability</span>, hypotonia and distinctive facial features. | CTD_human |
null | null | Negative | MESH:D015838 | null | null | SC | 3479;3481 | null | IGF-I and -II | null | 28,089,088 | We conclude that the IGF/IGFBP system seems to contribute to the pathogenesis of SC, especially IGF-I and -II, and their effects enhancing binding protein 5. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | intestinal inflammation | 16176 | null | IL-1b | null | 28,025,954 | Oral administration of the microalgal biomass reduced TNBS-induced intestinal inflammation, evidenced by an inhibition of body weight loss, an improvement in colon morphology and a decrease in pro-inflammatory cytokines TNF-a, IL-1b, IL-6 and IL-17. | null | null | null |
2 | 0 | Biomarker | C0002888 | Anemia, Megaloblastic | disease | megaloblastic anemia | 1719 | DHFR | DHFR | CTD_human | 21,310,277 | Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. | 0.400275 | Dihydrofolate reductase deficiency due to a homozygous <span class="gene" id="21310277-0-55-59">DHFR</span> mutation causes <span class="disease" id="21310277-0-76-96">megaloblastic anemia</span> and cerebral folate deficiency leading to severe neurologic disease. | CTD_human;HPO |
null | null | Negative | MESH:D009422 | null | null | photothrombotic MCA damage | 13051 | null | Cx3CR1 | null | 28,003,156 | Two groups of heterozygote Cx3CR1-GFP reporter mice (to follow microglia) were subject to stroke injury either with coagulator-mediated occlusion or photothrombotic MCA damage. | null | null | null |
null | null | Negative | MESH:D006623 | null | null | VHL | 201161 | null | p30 | null | 28,143,252 | VHL p30 band intensities varied as a function of compound used, suggesting alternate post-translational processing. | null | null | null |
null | null | Negative | MESH:D020209 | null | null | spared nerve injury | 12064 | null | BDNF | null | 28,111,162 | This study examines the role of BDNF in the spared nerve injury (SNI) mice model. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | inherited lysosomal storage disorder | 16534 | null | KCa3.1 | null | 28,197,106 | Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). | null | null | null |
null | null | Negative | MESH:D010015 | null | null | LD disappearance | 57111 | null | Rab25 | null | 28,038,427 | Down-regulation of Rab25 activity, using Rab25 siRNA, blocked the target recognition of autophagy on LDs, and inhibited LD disappearance of quiescent HSCs. | null | null | null |
4 | 0 | Therapeutic | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 796 | CALCA | calcitonin | CTD_human | 12,855,330 | The role of calcitonin gene-related peptide (CGRP) in the generation and maintenance of mechanical allodynia and hyperalgesia in rats after intradermal injection of capsaicin. | 0.280275 | The role of <span class="gene" id="12855330-0-12-22">calcitonin</span> gene-related peptide (CGRP) in the generation and maintenance of mechanical allodynia and <span class="disease" id="12855330-0-113-125">hyperalgesia</span> in rats after intradermal injection of capsaicin. | CTD_human |
null | null | Negative | MESH:D009135 | null | null | myopathies | 2489 | null | FSHD | null | 28,040,729 | FacioScapuloHumeral Muscular Dystrophy (FSHD), one of the most common myopathies, is characterized by a complex interplay of genetic and epigenetic events. | null | null | null |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 3688 | ITGB1 | integrin ?1 | CTD_human | 23,562,787 | Shikonin attenuates lung cancer cell adhesion to extracellular matrix and metastasis by inhibiting integrin ?1 expression and the ERK1/2 signaling pathway. | 0.21232 | Shikonin attenuates lung cancer cell adhesion to extracellular matrix and <span class="disease" id="23562787-0-74-84">metastasis</span> by inhibiting <span class="gene" id="23562787-0-99-110">integrin β1</span> expression and the ERK1/2 signaling pathway. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammatory cell infiltration | 18383 | null | osteoprotegerin | 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 |
null | null | Negative | MESH:D020159 | null | null | TS | 1956 | null | EGFR | null | 28,023,232 | Levels of TTF1, TS, folate receptor (FR), FPGS, estrogen receptor (ER), RRM1, EGFR and PTEN were assessed using immunohistochemistry assays from Ventana Medical Systems. | null | null | null |
null | null | Negative | MESH:D002181 | null | null | VVC | 54681 | null | pH 4 | null | 28,158,577 | Objectives: To evaluate the antifungal activity of CD101 against clinical VVC isolates of Candida spp., including azole-resistant strains, at pH 4. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | lipomatous tumor | 17246 | null | murine double minute 2 | null | 28,155,209 | We therefore wished to begin to explore this idea by evaluating atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) cells, because murine double minute 2 (MDM2) gene amplification, which leads to p53 hypofunction, is found in almost all ALT/WDLs. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 5156 | null | PDGFRA | null | 28,147,793 | Biomarker expression differences that did not meet statistical significance: ERCC1, MGMT, PDGFRA, RRM1, SPARC, TS and TOPO1. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | toxicities | 3344628 | null | CG0070 | null | 28,143,293 | CONCLUSIONS: CG0070 was well tolerated with minimal local and systemic toxicities. | null | null | null |
1 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | AML-M3 | 3687 | ITGAX | CD11c | 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. | 0.200549 | We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and <span class="gene" id="16764927-8-87-92">CD11c</span>) 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 |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 12775 | null | CCR7 | null | 28,137,279 | We recently reported that the chemokine receptor CCR7, a multi-functional regulator of breast cancer, maintains the stem-like cell population. | null | null | null |
20 | 0 | Biomarker | C0037769 | West Syndrome | disease | infantile spasms | 5443 | POMC | Adrenocorticotropic hormone | CTD_human | 8,980,841 | Adrenocorticotropic hormone and vigabatrin treatment of children with infantile spasms underlying cerebral palsy. | 0.203022 | <span class="gene" id="8980841-0-0-27">Adrenocorticotropic hormone</span> and vigabatrin treatment of children with <span class="disease" id="8980841-0-70-86">infantile spasms</span> underlying cerebral palsy. | CTD_human |
null | null | Negative | MESH:D020521 | null | null | stroke | 231004 | null | mRS | null | 28,028,149 | Outcome was assessed by the 7-point modified Rankin Scale (mRS) measured at 90 days after ischemic stroke. | null | null | null |
null | null | Negative | MESH:D003643 | null | null | death | 24494 | null | interleukin-1b | null | 28,054,940 | The activation of microglia may promote the neurodegenerative process through the release of proinflammatory cytokines, such as interleukin-1b (IL-1b) and tumor necrosis factor-a (TNFa), which may lead to neuronal damage and eventual death. | null | null | null |
null | null | Negative | MESH:D020244 | null | null | MCAO | 81736 | null | NF-kB | null | 28,087,909 | Meanwhile triptolide also dramatically reduced the number of GFAP-positive astrocytes (P<0.05), alleviated protein expression of COX-2 (91.67 1.31), iNOS (95.24 5.07) and NF-kB (75.03 2.06) triggered by MCAO (all P<0.05), and induced a down-regulation of cell apoptosis as showed by TUNEL assay (64.15 3.52, P<0.05). | null | null | null |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | Grawitz tumor | 5443 | POMC | ACTH | CTD_human | 2,844,640 | We authors believe that this is the first documented case of ACTH-producing Grawitz tumor in the literature. | 0.200275 | We authors believe that this is the first documented case of <span class="gene" id="2844640-9-61-65">ACTH</span>-producing <span class="disease" id="2844640-9-76-89">Grawitz tumor</span> in the literature. | CTD_human |
17 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5972 | REN | renin | CTD_human | 12,600,921 | Endothelin-1 increases vascular superoxide via endothelin(A)-NADPH oxidase pathway in low-renin hypertension. | 0.363794 | Endothelin-1 increases vascular superoxide via endothelin(A)-NADPH oxidase pathway in low-<span class="gene" id="12600921-0-90-95">renin</span> <span class="disease" id="12600921-0-96-108">hypertension</span>. | CTD_human |
68 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 16,546,835 | N-acetylcysteine antagonizes the development but does not reverse ACTH-induced hypertension in the rat. | 0.203846 | N-acetylcysteine antagonizes the development but does not reverse <span class="gene" id="16546835-0-66-70">ACTH</span>-induced <span class="disease" id="16546835-0-79-91">hypertension</span> in the rat. | CTD_human |
1 | 0 | Therapeutic | C0007682 | CNS disorder | group | CNS disorders | 2056 | EPO | erythropoietin | CTD_human | 15,816,862 | Astroglial cytoprotection by erythropoietin pre-conditioning: implications for ischemic and degenerative CNS disorders. | 0.200275 | Astroglial cytoprotection by <span class="gene" id="15816862-0-29-43">erythropoietin</span> pre-conditioning: implications for ischemic and degenerative <span class="disease" id="15816862-0-105-118">CNS disorders</span>. | CTD_human |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 307 | ANXA4 | annexin IV | CTD_human | 15,108,329 | Overexpression of three proteins, alphabeta-crystallin, manganese superoxide dismutase (MnSOD), and annexin IV, most commonly observed in primary RCC cell cultures, were also observed by immunoblot analysis of proteins from the RCC tissues from which the primary cell cultures were derived. | 0.203282 | Overexpression of three proteins, alphabeta-crystallin, manganese superoxide dismutase (MnSOD), and <span class="gene" id="15108329-7-100-110">annexin IV</span>, most commonly observed in primary <span class="disease" id="15108329-7-146-149">RCC</span> cell cultures, were also observed by immunoblot analysis of proteins from the <span class="disease" id="15108329-7-228-231">RCC</span> tissues from which the primary cell cultures were derived. | CTD_human |
2 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | attention-deficit/hyperactivity disorder | 1816 | DRD5 | DRD5 | CTD_human | 14,732,906 | Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes. | 0.224201 | Joint analysis of the <span class="gene" id="14732906-0-22-26">DRD5</span> marker concludes association with <span class="disease" id="14732906-0-61-101">attention-deficit/hyperactivity disorder</span> confined to the predominantly inattentive and combined subtypes. | CTD_human |
11 | 4 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | AML | 2322 | FLT3 | FLT3 | CTD_human | 25,053,825 | BET protein antagonist JQ1 is synergistically lethal with FLT3 tyrosine kinase inhibitor (TKI) and overcomes resistance to FLT3-TKI in AML cells expressing FLT-ITD. | 0.52 | BET protein antagonist JQ1 is synergistically lethal with <span class="gene" id="25053825-0-58-62">FLT3</span> tyrosine kinase inhibitor (TKI) and overcomes resistance to <span class="gene" id="25053825-0-123-127">FLT3</span>-TKI in <span class="disease" id="25053825-0-135-138">AML</span> cells expressing FLT-ITD. | CTD_human |
2 | 17 | Biomarker | C0004903 | Beckwith-Wiedemann Syndrome | disease | Beckwith-Wiedemann syndrome | 1028 | CDKN1C | CDKN1C | CTD_human | 22,634,751 | All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, distinguishing them from the mutations of CDKN1C that cause Beckwith-Wiedemann syndrome, an overgrowth syndrome. | 0.427979 | All IMAGe-associated mutations clustered in the PCNA-binding domain of <span class="gene" id="22634751-6-71-77">CDKN1C</span> and resulted in loss of PCNA binding, distinguishing them from the mutations of <span class="gene" id="22634751-6-158-164">CDKN1C</span> that cause <span class="disease" id="22634751-6-176-203">Beckwith-Wiedemann syndrome</span>, an overgrowth syndrome. | CTD_human;UNIPROT |
null | null | Negative | MESH:D009410 | null | null | neuronal damage | 24494 | null | interleukin-1b | null | 28,054,940 | The activation of microglia may promote the neurodegenerative process through the release of proinflammatory cytokines, such as interleukin-1b (IL-1b) and tumor necrosis factor-a (TNFa), which may lead to neuronal damage and eventual death. | null | null | null |
null | null | Negative | MESH:D007239 | null | null | multiplicity-of-infection | 16153 | null | IL-10 | null | 28,140,445 | Interestingly, H37Rv, but not H37Ra, impaired DC surface molecule expression (CD80, CD86 and MHC class II) due to prominent interleukin-10 (IL-10) production while augmenting the expression of tolerogenic molecules including PD-L1, CD103, Tim-3 and indoleamine 2,3-dioxygenase on DCs in a multiplicity-of-infection (MOI) -dependent manner. | null | null | null |
2 | 0 | Biomarker | C0020557 | Hypertriglyceridemia | phenotype | HTG | 4023 | LPL | LPL | CTD_human | 20,657,596 | Through GWAS, we identified common variants in APOA5, GCKR, LPL and APOB associated with HTG. | 0.306491 | Through GWAS, we identified common variants in APOA5, GCKR, <span class="gene" id="20657596-5-60-63">LPL</span> and APOB associated with <span class="disease" id="20657596-5-89-92">HTG</span>. | CTD_human |
1 | 0 | Biomarker | C0086543 | Cataract | disease | cataract | 1414 | CRYBB1 | CRYBB1 | CTD_human | 12,360,425 | Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family. | 0.408748 | Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of <span class="gene" id="12360425-4-105-111">CRYBB1</span> was found to cosegregate with <span class="disease" id="12360425-4-142-150">cataract</span> in the family. | CTD_human;HPO |
null | null | Negative | MESH:D009187 | null | null | myelitis | 6818 | null | STM | null | 28,067,584 | BACKGROUND: Some patients with neuromyelitis optica spectrum disorders (NMOSD) present with spinal cord lesions extending fewer than three vertebral segments (short transverse myelitis, STM), hindering an early diagnosis. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 7422 | null | VEGF | null | 28,022,460 | The genes studied were Kras, PIK3CA, PTEN, ERCC1, ERCC2/XPD, p53, MLH1, MSH2, MGMT, XRCC1, VEGF, FCGR3A, ABCG2, ABCB1, GSTP1, CCND1, MTHFR, TS and DPD. | null | null | null |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 7,323,490 | Most of these effects of angiotensin II were opposite to the effects of hypertension caused by phenylephrine and aortic balloon inflation. | 0.52 | Most of these effects of <span class="gene" id="7323490-5-25-39">angiotensin II</span> were opposite to the effects of <span class="disease" id="7323490-5-72-84">hypertension</span> caused by phenylephrine and aortic balloon inflation. | CTD_human |
1 | 2 | Biomarker | C0242383 | Age related macular degeneration | disease | age-related macular degeneration | 717 | C2 | C2 | CTD_human | 16,518,403 | Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. | 0.248308 | Variation in factor B (BF) and complement component 2 (<span class="gene" id="16518403-0-55-57">C2</span>) genes is associated with <span class="disease" id="16518403-0-84-116">age-related macular degeneration</span>. | CTD_human |
2 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | Autism spectrum disorder | 139411 | PTCHD1 | PTCHD1 | CTD_human | 20,844,286 | Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | 0.201923 | Disruption at the <span class="gene" id="20844286-0-18-24">PTCHD1</span> Locus on Xp22.11 in <span class="disease" id="20844286-0-45-69">Autism spectrum disorder</span> and intellectual disability. | CTD_human |
3 | 0 | Biomarker | C0021846 | Intestinal Polyps | phenotype | intestinal polyps | 324 | APC | Apc | CTD_human | 12,189,188 | When Apc gene knockout mice (APC1309 mice) were given 600 or 1200 p.p.m. mofezolac in their diet for 8 weeks, the numbers of intestinal polyps were also dose-dependently decreased, with reduction to 59% of that in the control diet group at the higher dose. | 0.205154 | When <span class="gene" id="12189188-6-5-8">Apc</span> gene knockout mice (APC1309 mice) were given 600 or 1200 p.p.m. mofezolac in their diet for 8 weeks, the numbers of <span class="disease" id="12189188-6-125-142">intestinal polyps</span> were also dose-dependently decreased, with reduction to 59% of that in the control diet group at the higher dose. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | longitudinal axis | 1361 | null | TAFI | null | 28,135,035 | Methods Immunohistochemistry in serial sections along the longitudinal axis of endarterectomies from patients with symptomatic carotid stenosis (n = 19) were studied using an antibody specific for free PAI-1 (I205), an antibody with high affinity for TAFI/TAFIa (CP17) and established antibodies for smooth muscle cells (a-actin), endothelial cells (von Willebrand factor [VWF]), macrophages (CD68) and platelets (CD42). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | primary tumor | 672;675 | null | BRCA-1/2 | null | 28,022,858 | Evaluate biomarkers in primary tumor that could predict response to PARPi such as BRCA-1/2, FANCD2 nuclear foci formation (using the FA Triple Stain Immunofluroscence test/FATSI) and expression of miR 155 (oncogenic miR that targets DNA repair genes). | null | null | null |
null | null | Negative | MESH:D043183 | null | null | BO | 310738 | null | nerve growth factor | null | 28,079,757 | We tested the hypothesis that mechanical stress in obstruction upregulates expression of nociception mediator nerve growth factor (NGF) in gut smooth muscle cells (SMCs), and NGF sensitizes primary sensory nerve to contribute to pain in BO. | null | null | null |
96 | 174 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson's disease | 540 | ATP7B | ATP7B | CTD_human | 22,455,587 | These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), ATP7B (Wilson's disease), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2. | 0.885769 | These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), <span class="gene" id="22455587-6-290-295">ATP7B</span> (<span class="disease" id="22455587-6-297-313">Wilson's disease</span>), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 6648 | SOD2 | MnSOD | CTD_human | 23,956,348 | Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese-NGT and obese-GDM, compared with NW women. | 0.203781 | Electron transport complex-II and manganese superoxide dismutase (<span class="gene" id="23956348-5-66-71">MnSOD</span>) enzyme activities were decreased in <span class="disease" id="23956348-5-109-114">obese</span>-NGT and <span class="disease" id="23956348-5-123-128">obese</span>-GDM, compared with NW women. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicity | 11835 | null | AR | null | 28,003,546 | We report that cyclin-dependent kinase 2 (CDK2) phosphorylates polyQ-AR specifically at Ser<sup>96</sup>Phosphorylation of polyQ-AR by CDK2 increased protein stabilization and toxicity and is negatively regulated by the adenylyl cyclase (AC)/protein kinase A (PKA) signaling pathway. | null | null | null |
2 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 5265 | SERPINA1 | AAT | CTD_human | 25,579,632 | Lung AAT amount is inversely correlated with chronic obstructive pulmonary disease (COPD), a serious and often deadly condition, with increasing frequency in the aging population. | 0.462609 | Lung <span class="gene" id="25579632-3-5-8">AAT</span> amount is inversely correlated with <span class="disease" id="25579632-3-45-82">chronic obstructive pulmonary disease</span> (<span class="disease" id="25579632-3-84-88">COPD</span>), a serious and often deadly condition, with increasing frequency in the aging population. | CTD_human;HPO |
null | null | Negative | MESH:D035583 | null | null | RSS | 24385 | null | glucokinase | null | 28,209,058 | We investigated whether long-term administration of RSS maintains glucose tolerance and whether the underlying mechanism involves hepatic glucokinase translocation. | null | null | null |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | SCC | 5478 | PPIA | cyclophilin A | CTD_human | 15,274,141 | At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins. | 0.2 | At least, <span class="disease" id="15274141-8-10-13">SCC</span> antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, <span class="gene" id="15274141-8-136-149">cyclophilin A</span>, stratifin and galectin 7 are candidates for targeted proteins. | CTD_human |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 21803 | null | TGF-b | null | 28,057,611 | Previous studies pointed to a connection between WNT-5A and the fibrogenic factor TGF-b warranting further studies into the functional role of WNT-5A in liver fibrosis. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | overall survival | 1956 | null | EGFR | null | 28,020,853 | They were evaluated for clinicopathological features, EGFR, k-ras and b-raf mutations, erlotinib treatment, time to progression (TTP) and overall survival (OS). | null | null | null |
1 | 0 | Biomarker | C1168401 | Squamous cell carcinoma of the head and neck | disease | HNSCC | 5290 | PIK3CA | PI3K | CTD_human | 23,873,848 | Although consistent inhibition of the PI3K pathway was not evident in HNSCC, we identified a combination of PI3K/TP53 events necessary, but not sufficient, for rigosertib sensitivity. | 0.210989 | Although consistent inhibition of the <span class="gene" id="23873848-10-38-42">PI3K</span> pathway was not evident in <span class="disease" id="23873848-10-70-75">HNSCC</span>, we identified a combination of <span class="gene" id="23873848-10-108-112">PI3K</span>/TP53 events necessary, but not sufficient, for rigosertib sensitivity. | CTD_human |
20 | 0 | Biomarker | C0037769 | West Syndrome | disease | infantile spasms | 5443 | POMC | adrenocorticotropic hormone | CTD_human | 1,656,808 | The seizures occurred following the suppression of infantile spasms with adrenocorticotropic hormone therapy and disappeared following the cessation of clonazepam administration. | 0.203022 | The seizures occurred following the suppression of <span class="disease" id="1656808-2-51-67">infantile spasms</span> with <span class="gene" id="1656808-2-73-100">adrenocorticotropic hormone</span> therapy and disappeared following the cessation of clonazepam administration. | CTD_human |
null | null | Negative | MESH:D011471 | null | null | prostate cancer | 18548 | null | PC3 | null | 28,134,352 | In this study, we used n-butyl alcohol extract of Litchi seed (NLS) to treat prostate cancer PC3, DU145, RM1 and C4-2B cells. | null | null | null |
1 | 0 | Biomarker | C0023269 | leiomyosarcoma | disease | leiomyosarcomas | 5743 | PTGS2 | COX-2 | CTD_human | 18,645,019 | Similarly, we found that HMGA1a and COX-2 are overexpressed in human leiomyosarcomas, a highly malignant uterine cancer. | 0.200275 | Similarly, we found that HMGA1a and <span class="gene" id="18645019-5-36-41">COX-2</span> are overexpressed in human <span class="disease" id="18645019-5-69-84">leiomyosarcomas</span>, a highly malignant uterine cancer. | CTD_human |
35 | 84 | Biomarker | C0022716 | Menkes Kinky Hair Syndrome | disease | Menkes disease | 538 | ATP7A | ATP7A | CTD_human | 25,247,420 | Here, we analyzed changes in the systemic iron metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter. | 0.727934 | Here, we analyzed changes in the systemic iron metabolism using an animal model of <span class="disease" id="25247420-4-83-97">Menkes disease</span>: copper-deficient mosaic mutant mice with dysfunction of the <span class="gene" id="25247420-4-159-164">ATP7A</span> copper transporter. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Therapeutic | C0003123 | Anorexia | disease | anorexia | 3557 | IL1RN | IL-1RA | CTD_human | 25,392,278 | While, the type 1 IL-1 receptor (IL-1R1) antagonist IL-1RA dose-dependently attenuated both IL-1?- and DON-induced anorexia. | 0.28 | While, the type 1 IL-1 receptor (IL-1R1) antagonist <span class="gene" id="25392278-8-52-58">IL-1RA</span> dose-dependently attenuated both IL-1β- and DON-induced <span class="disease" id="25392278-8-115-123">anorexia</span>. | CTD_human |
1 | 0 | Therapeutic | C0028840 | Ocular Hypertension | disease | ocular hypertension | 4312 | MMP1 | MMP1 | CTD_human | 20,089,869 | Treatment of sheep steroid-induced ocular hypertension with a glucocorticoid-inducible MMP1 gene therapy virus. | 0.2 | Treatment of sheep steroid-induced <span class="disease" id="20089869-0-35-54">ocular hypertension</span> with a glucocorticoid-inducible <span class="gene" id="20089869-0-87-91">MMP1</span> gene therapy virus. | CTD_human |
null | null | Negative | MESH:D001847 | null | null | bone health | 71660 | null | chemerin | null | 28,029,186 | Considering that the association between metabolic syndrome and bone health remains unclear, the present study aimed to clarify the role of chemerin in the pathophysiology of bone loss induced by dyslipidemia, particularly modulating osteoclastogenesis. | null | null | null |
2 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 3636 | INPPL1 | SHIP2 | CTD_human | 12,086,927 | The gene INPPL1, encoding the lipid phosphatase SHIP2, is a candidate for type 2 diabetes in rat and man. | 0.202198 | The gene <span class="gene" id="12086927-0-9-15">INPPL1</span>, encoding the lipid phosphatase <span class="gene" id="12086927-0-48-53">SHIP2</span>, is a candidate for <span class="disease" id="12086927-0-74-89">type 2 diabetes</span> in rat and man. | CTD_human |
20 | 0 | Biomarker | C0037769 | West Syndrome | disease | infantile spasms | 5443 | POMC | ACTH | CTD_human | 6,259,007 | In spite of conflicting views as to the long-term effects of ACTH, prompt treatment seems to be mandatory, at least in cryptogenic cases of infantile spasms. | 0.203022 | In spite of conflicting views as to the long-term effects of <span class="gene" id="6259007-11-61-65">ACTH</span>, prompt treatment seems to be mandatory, at least in cryptogenic cases of <span class="disease" id="6259007-11-140-156">infantile spasms</span>. | CTD_human |
null | null | Negative | MESH:D040181 | null | null | X-linked intellectual disability syndromes | 10084 | null | polyglutamine-binding protein 1 | null | 28,073,926 | Renpenning syndrome is a group of X-linked intellectual disability syndromes caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. | null | null | null |
null | null | Negative | MESH:D004342 | null | null | hypersensitivity | 16176 | null | IL-1b | null | 28,054,242 | We observed that SFN dose-dependently attenuated CCI-induced pain behavioral hypersensitivity, accompanied by reduction in pro-inflammatory cytokines (TNF-a, IL-1b, IL-6) and upregulation of an anti-inflammatory cytokine (IL-10). | null | null | null |
59 | 0 | Therapeutic | C0038454 | Cerebrovascular accident | group | stroke | 5327 | PLAT | alteplase | CTD_human | 8,598,594 | The higher rate of stroke in women after treatment with alteplase (2.0% vs 1.9% with streptokinase and intravenous heparin) was offset by a greater relative reduction in mortality (10.3% vs 11.1%). | 0.221398 | The higher rate of <span class="disease" id="8598594-13-19-25">stroke</span> in women after treatment with <span class="gene" id="8598594-13-56-65">alteplase</span> (2.0% vs 1.9% with streptokinase and intravenous heparin) was offset by a greater relative reduction in mortality (10.3% vs 11.1%). | CTD_human |
1 | 0 | Biomarker | C0039239 | Sinus Tachycardia | disease | sinus tachycardia | 1543 | CYP1A1 | CYP1A1 | CTD_human | 26,988,683 | CYP1A1 mRNA expression level was significantly higher in residents with sinus tachycardia or bradycardia than in residents with normal heart rate (1.47×10(-3)(0.87×10(-3), 2.77×10(-3)) vs.1.24×10(-3)(0.64×10(-3), 2.31×10(-3)), P<0.05). | 0.2 | <span class="gene" id="26988683-8-0-6">CYP1A1</span> mRNA expression level was significantly higher in residents with <span class="disease" id="26988683-8-72-89">sinus tachycardia</span> or bradycardia than in residents with normal heart rate (1.47×10(-3)(0.87×10(-3), 2.77×10(-3)) vs.1.24×10(-3)(0.64×10(-3), 2.31×10(-3)), P<0.05). | CTD_human |
null | null | Negative | MESH:D003643 | null | null | death | 625249 | null | GPx4 | null | 28,203,523 | Cytotoxicity measured through LDH activity, lipid peroxidation immunostained for 4-hydroxynonenal, cell viability, and cell death were compared between cells transfected with either GPx4 siRNA or scrambled control siRNA. | null | null | null |
1 | 0 | Biomarker | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | disease | acute lymphoblastic leukemia | 64109 | CRLF2 | CRLF2 | CTD_human | 19,838,194 | Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. | 0.20467 | Rearrangement of <span class="gene" id="19838194-0-17-22">CRLF2</span> in B-progenitor- and Down syndrome-associated <span class="disease" id="19838194-0-69-97">acute lymphoblastic leukemia</span>. | CTD_human |
null | null | Negative | MESH:C537475 | null | null | multicatalytic endopeptidase complex-like 1 | 16913 | null | LMP7 | null | 28,157,553 | To study the effect of immunoproteasomes on LPS- or TNF-a-induced NF-kB activation, we used IFN-y stimulated peritoneal macrophages and mouse embryonic fibroblasts derived from mice deficient for the immunoproteasome subunits low molecular mass polypeptide (LMP) 2, or LMP7 and multicatalytic endopeptidase complex-like 1 (MECL-1). | null | null | null |
null | null | Negative | MESH:C564276 | null | null | TCP | 6554 | null | NTCP | null | 28,048,236 | We defined a theoretical framework to correlate these genes with radiotherapy outcomes as TCP and NTCP biological dose tools. | null | null | null |
1 | 0 | Biomarker | C0007370 | Catalepsy | disease | catalepsy | 2641 | GCG | glucagon | CTD_human | 9,798,264 | Moreover, glucagon inhibited the locomotor and exploratory activity as well as the amphetamine-induced hyperactivity and enhanced haloperidol-induced catalepsy. | 0.2 | Moreover, <span class="gene" id="9798264-11-10-18">glucagon</span> inhibited the locomotor and exploratory activity as well as the amphetamine-induced hyperactivity and enhanced haloperidol-induced <span class="disease" id="9798264-11-150-159">catalepsy</span>. | CTD_human |
null | null | Negative | MESH:D005355 | null | null | tubulointerstitial fibrosis | 17246 | null | MDM2 | null | 28,100,501 | Here we investigated the role of MDM2 in tubulointerstitial fibrosis (TIF). | null | null | null |
51 | 124 | Biomarker | C1142166 | Brugada Syndrome (disorder) | disease | Brugada syndrome | 6331 | SCN5A | SCN5A | CTD_human | 20,174,578 | Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects. | 0.843536 | Loss-of-function mutations in <span class="gene" id="20174578-1-30-35">SCN5A</span>, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and <span class="disease" id="20174578-1-138-154">Brugada syndrome</span>, which both exhibit variable phenotypic penetrance of conduction defects. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes mellitus risk | 2944 | GSTM1 | GSTM1 | CTD_human | 22,652,274 | The role of GSTM1, GSTT1, GSTP1, and OGG1 polymorphisms in type 2 diabetes mellitus risk: a case-control study in a Turkish population. | 0.224201 | The role of <span class="gene" id="22652274-0-12-17">GSTM1</span>, GSTT1, GSTP1, and OGG1 polymorphisms in <span class="disease" id="22652274-0-59-88">type 2 diabetes mellitus risk</span>: a case-control study in a Turkish population. | CTD_human |
3 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizure | 6750 | SST | somatostatin | CTD_human | 7,913,897 | [Effect of intracerebral injections of somatostatin and neurotensin on motor functions in seizure]. | 0.200549 | [Effect of intracerebral injections of <span class="gene" id="7913897-0-39-51">somatostatin</span> and neurotensin on motor functions in <span class="disease" id="7913897-0-90-97">seizure</span>]. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | cytotoxicity | 17766 | null | MTH1 | null | 28,067,232 | Increased cytotoxicity following MTH1 knockout or treatment with MTH1 inhibitor suggests the oxidation of precursor nucleotides. | null | null | null |
null | null | Negative | MESH:D007674 | null | null | renal fibrosis | 13590 | null | Lefty | null | 28,213,468 | Lefty A, a potent inhibitor of transforming growth factor (TGF)-b signaling, has been shown to have promising antifibrotic ability in vitro for the treatment of renal fibrosis and other potential organ fibroses. | null | null | null |
1 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | ASD | 25942 | SIN3A | SIN3A | CTD_human | 27,399,968 | Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature. | 0.2 | Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (<span class="gene" id="27399968-2-148-153">SIN3A</span>; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and <span class="disease" id="27399968-2-243-246">ASD</span>, share striking features, including facial dysmorphisms, microcephaly and short stature. | CTD_human |
null | null | Negative | MESH:C562591 | null | null | XPD | 2073 | null | ERCC5 | null | 28,115,302 | Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5). | null | null | null |
1 | 0 | Biomarker | C0031117 | Peripheral Neuropathy | group | Peripheral neuropathy | 2707 | GJB3 | GJB3 | CTD_human | 11,309,368 | Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders. | 0.201099 | <span class="disease" id="11309368-7-0-21">Peripheral neuropathy</span> is the third phenotypic alteration linked to <span class="gene" id="11309368-7-67-71">GJB3</span> mutations, which enlarges the list of genes that cause this group of heterogeneous disorders. | CTD_human |
1 | 0 | Therapeutic | C0001883 | Airway Obstruction | group | airway obstruction | 7035 | TFPI | Tissue factor pathway inhibitor | CTD_human | 23,727,623 | Tissue factor pathway inhibitor prevents airway obstruction, respiratory failure and death due to sulfur mustard analog inhalation. | 0.2 | <span class="gene" id="23727623-0-0-31">Tissue factor pathway inhibitor</span> prevents <span class="disease" id="23727623-0-41-59">airway obstruction</span>, respiratory failure and death due to sulfur mustard analog inhalation. | CTD_human |
96 | 174 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | WND | 540 | ATP7B | ATP7B | 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. | 0.885769 | The genes for two copper-transporting ATPases, ATP7A and <span class="gene" id="14579150-1-57-62">ATP7B</span>, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and <span class="disease" id="14579150-1-151-165">Wilson disease</span> (<span class="disease" id="14579150-1-167-170">WND</span>), respectively. | CTD_human;ORPHANET;UNIPROT |
6 | 1,072 | Biomarker | C0020445 | Hypercholesterolemia, Familial | disease | familial hypercholesterolemia | 3949 | LDLR | LDL-receptor | CTD_human | 12,009,418 | A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. | 0.622857 | A "de novo" mutation of the <span class="gene" id="12009418-0-28-40">LDL-receptor</span> gene as the cause of <span class="disease" id="12009418-0-62-91">familial hypercholesterolemia</span>. | CTD_human;HPO |
null | null | Negative | MESH:D009369 | null | null | mammary tumor | 21803 | null | TGF-b1 | null | 28,078,601 | Canine metastatic mammary tumor cell line CF41 was stably transduced with a shRNA-lentivirus, reducing expression level of TGF-b1. | null | null | null |
2 | 0 | Biomarker | C0751072 | Frontotemporal Lobar Degeneration | disease | FTLD | 23435 | TARDBP | TDP-43 | CTD_human | 24,252,504 | TAR DNA-binding protein 43 (TDP-43) is a protein that is involved in the pathology of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD). | 0.259275 | <span class="gene" id="24252504-1-0-26">TAR DNA-binding protein 43</span> (<span class="gene" id="24252504-1-28-34">TDP-43</span>) is a protein that is involved in the pathology of Amyotrophic Lateral Sclerosis (ALS) and <span class="disease" id="24252504-1-126-159">Frontotemporal Lobar Degeneration</span> (<span class="disease" id="24252504-1-161-165">FTLD</span>). | CTD_human |
11 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 1392 | CRH | CRF | CTD_human | 12,438,692 | CRF elicited a wide range of behaviors, which fell into three broad categories: anxiety-like, depressive-like, and externally oriented. | 0.206868 | <span class="gene" id="12438692-5-0-3">CRF</span> elicited a wide range of behaviors, which fell into three broad categories: <span class="disease" id="12438692-5-80-87">anxiety</span>-like, depressive-like, and externally oriented. | CTD_human |
4 | 0 | Therapeutic | C0023530 | Leukopenia | disease | leukopenia | 1440 | CSF3 | G-CSF | CTD_human | 16,120,623 | Accidentally, we observed a complete response (CR) in a patient undergoing chemotherapy with bleomycin, vincristine or Oncovin, CCNU or lomustine, dacarbazine (BOLD) regimen for metastatic melanoma including brain metastases, who was also treated with G-CSF to manage a concomitant leukopenia. | 0.212912 | Accidentally, we observed a complete response (CR) in a patient undergoing chemotherapy with bleomycin, vincristine or Oncovin, CCNU or lomustine, dacarbazine (BOLD) regimen for metastatic melanoma including brain metastases, who was also treated with <span class="gene" id="16120623-2-252-257">G-CSF</span> to manage a concomitant <span class="disease" id="16120623-2-282-292">leukopenia</span>. | CTD_human |
5 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 7124 | TNF | TNF | CTD_human | 16,456,144 | The TNF-308 GG genotype may have a protective role in asthma pathogenesis, depending on airway oxidative stress levels. | 0.350679 | The <span class="gene" id="16456144-11-4-7">TNF</span>-308 GG genotype may have a protective role in <span class="disease" id="16456144-11-54-60">asthma</span> pathogenesis, depending on airway oxidative stress levels. | CTD_human |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinomas | 406906 | MIR122 | miR-122 | CTD_human | 16,924,677 | Downregulation of miR-122 in the rodent and human hepatocellular carcinomas. | 0.231825 | Downregulation of <span class="gene" id="16924677-0-18-25">miR-122</span> in the rodent and human <span class="disease" id="16924677-0-50-75">hepatocellular carcinomas</span>. | CTD_human |
null | null | Negative | MESH:D006984 | null | null | hypertrophy | 25125 | null | Signal transducer and activator of transcription 3 | null | 28,031,326 | Signal transducer and activator of transcription 3 (STAT-3)-mediated signaling in relation to upregulated collagen expression in fibroblasts during cardiac hypertrophy is well defined. | null | null | null |
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