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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D000860 | null | null | hypoxia | 24185 | null | Akt | null | 28,173,835 | The eELCs showed higher protein expressions of CXCR4, phosphorylated Akt (pAkt), and endogenous NFkB and IkBa than MSCs under both normoxia and hypoxia conditions. | null | null | null |
null | null | Negative | MESH:D006509 | null | null | hepatitis B | 1084 | null | CEA | null | 28,053,931 | BACKGROUND: This study aimed to determine the role of tumor markers AFP, CA15-3, CA125, CA19-9 and CEA in patients with hepatitis B and C. METHODS: This descriptive cross-sectional study was performed from Oct 2012 to Oct 2014. | null | null | null |
1 | 1 | Biomarker | C0036421 | Systemic Scleroderma | disease | systemic sclerosis | 919 | CD247 | CD247 | CTD_human | 20,383,147 | Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. | 0.200824 | Genome-wide association study of <span class="disease" id="20383147-0-33-51">systemic sclerosis</span> identifies <span class="gene" id="20383147-0-63-68">CD247</span> as a new susceptibility locus. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancers | 561835 | null | RICTOR | null | 28,028,034 | Further investigation assessing the therapeutic potential of RICTOR amplification as a novel target across advanced cancers is needed. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 5879 | RAC1 | Rac1 | CTD_human | 18,506,888 | Melittin inhibits tumor cell metastasis by reducing cell motility and migration via the suppression of Rac1-dependent pathway, suggesting that melittin is a potential therapeutic agent for HCC. | 0.204381 | Melittin inhibits tumor cell metastasis by reducing cell motility and migration via the suppression of <span class="gene" id="18506888-8-103-107">Rac1</span>-dependent pathway, suggesting that melittin is a potential therapeutic agent for <span class="disease" id="18506888-8-189-192">HCC</span>. | CTD_human |
null | null | Negative | MESH:D016657 | null | null | cerebral amyloid angiopathy | 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 |
1 | 0 | Biomarker | C0038325 | Stevens-Johnson Syndrome | disease | Stevens-Johnson Syndrome | 5733 | PTGER3 | PTGER3 | CTD_human | 21,966,456 | In our earlier genome-wide association study on Stevens-Johnson Syndrome (SJS) and its severe variant, toxic epidermal necrolysis (TEN), we found that in Japanese patients with these severe ocular surface complications there was an association with prostaglandin E receptor 3 (EP3) gene (PTGER3) polymorphisms. | 0.200275 | In our earlier genome-wide association study on <span class="disease" id="21966456-1-48-72">Stevens-Johnson Syndrome</span> (SJS) and its severe variant, toxic epidermal necrolysis (TEN), we found that in Japanese patients with these severe ocular surface complications there was an association with prostaglandin E receptor 3 (<span class="gene" id="21966456-1-277-280">EP3</span>) gene (<span class="gene" id="21966456-1-288-294">PTGER3</span>) polymorphisms. | CTD_human |
null | null | Negative | MESH:D002311 | null | null | DCM | 14609 | null | connexin-43 | null | 28,085,920 | These Tg mice present with an E2F6 dose dependent DCM and deregulated connexin-43 (CX-43) levels in myocardium. | null | null | null |
null | null | Negative | MESH:D000312 | null | null | hypothalamus-pituitary-adrenal (HPA) axis | 12918 | null | corticotropin-releasing factor | null | 28,137,450 | The corticotropin-releasing factor (CRF) and the related hypothalamus-pituitary-adrenal (HPA) axis stress-responsive systems are activated by stimulant drugs. | null | null | null |
9 | 0 | Biomarker | C0038325 | Stevens-Johnson Syndrome | disease | Stevens-Johnson syndrome | 3106 | HLA-B | HLA-B | CTD_human | 15,057,820 | Here we show that there is a strong association in Han Chinese between a genetic marker, the human leukocyte antigen HLA-B*1502, and Stevens-Johnson syndrome induced by carbamazepine, a drug commonly prescribed for the treatment of seizures. | 0.457454 | Here we show that there is a strong association in Han Chinese between a genetic marker, the human leukocyte antigen <span class="gene" id="15057820-2-117-122">HLA-B</span>*1502, and <span class="disease" id="15057820-2-133-157">Stevens-Johnson syndrome</span> induced by carbamazepine, a drug commonly prescribed for the treatment of seizures. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0020437 | Hypercalcemia | disease | hypercalcaemia | 7124 | TNF | tumour necrosis factor alpha | CTD_human | 10,638,776 | The patient had hypercalcaemia associated with increased calcitriol serum levels; circulating interleukin-6 and tumour necrosis factor alpha levels were also elevated. | 0.200824 | The patient had <span class="disease" id="10638776-3-16-30">hypercalcaemia</span> associated with increased calcitriol serum levels; circulating interleukin-6 and <span class="gene" id="10638776-3-112-140">tumour necrosis factor alpha</span> levels were also elevated. | CTD_human |
null | null | Negative | MESH:C565128 | null | null | NPC | 8480 | null | RAE1 | null | 28,071,978 | Immunoprecipitation and bimolecular fluorescence complementation analyses revealed that Nup82 interacts with the NPC components Nup136 and RAE1. | null | null | null |
null | null | Negative | MESH:C536657 | null | null | REAL-TNF | 3725 | null | REAL-JUN | null | 28,031,022 | Moreover, the results of regulatory network showed that the anti-aging related target pairs with high correlated degrees of Kidney Yin-tonifying herbal medicines included TNF-PTGS2, TNF-CASP3, PTGS2-CASP3, CASP3-NOS2 and TNF-NOS2, and that of kidney Yang-tonifying herbal medicines included REAL-TNF, REAL-NFKBIA, REAL-JUN, PTGS2-SOD1 and TNF-IL6. | null | null | null |
3 | 2 | Biomarker | C0400966 | Non-alcoholic Fatty Liver Disease | disease | nonalcoholic fatty liver disease | 80339 | PNPLA3 | PNPLA3 | CTD_human | 18,820,647 | Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. | 0.231044 | Genetic variation in <span class="gene" id="18820647-0-21-27">PNPLA3</span> confers susceptibility to <span class="disease" id="18820647-0-54-86">nonalcoholic fatty liver disease</span>. | CTD_human |
1 | 0 | Therapeutic | C0017636 | Glioblastoma | disease | glioblastoma | 3558 | IL2 | Interleukin-2 | CTD_human | 7,719,933 | Interleukin-2 gene therapy in a patient with glioblastoma. | 0.201923 | <span class="gene" id="7719933-0-0-13">Interleukin-2</span> gene therapy in a patient with <span class="disease" id="7719933-0-45-57">glioblastoma</span>. | CTD_human |
null | null | Negative | MESH:D019636 | null | null | neurodegeneration | 21898 | null | TLR4 | null | 28,000,223 | In conclusion, WD-feeding results in increased levels of FFA and microbiota that, even in absence of hyperglycaemia or overt endotoxaemia, synergistically induce TLR4-mediated neurodegeneration and dysmotility. | null | null | null |
null | null | Negative | MESH:C566021 | null | null | TSC2 | 7248 | null | TSC1 | null | 28,211,972 | TSC is caused by pathogenic variants in either TSC1 or TSC2. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 25721 | null | aspartate aminotransferase | null | 28,111,217 | RESULTS _ DISCUSSION: MEPF treatment significantly reduced hyperglycaemia, serum creatinine, blood urea nitrogen (BUN), bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), triglycerides (TRIGs), and total cholesterol (TCHOL) levels in the diabetic rats, whereas it significantly restored GFR and serum albumin level. | null | null | null |
null | null | Negative | MESH:D008659 | null | null | metabolic disorders | 230784 | null | sesn2 | null | 28,215,577 | BACKGROUND _ OBJECTIVE: Sestrin2 (sesn2) has recently gained attention as an important regulator for various metabolic disorders. | null | null | null |
null | null | Negative | MESH:D009216 | null | null | myopia | 373931 | null | EGR1 | null | 28,063,778 | Expression microarray analyses revealed that myopia suppressive gene EGR1 was upregulated by VL exposure. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 6091 | ROBO1 | ROBO1 | CTD_human | 18,270,976 | Expressions of ROBO1 (P = 0.018) and ROBO2 (P = 0.023) were significantly reduced in the autistic group; the possibility of using the altered expressions of ROBO as peripheral markers for autism, may be explored. | 0.200275 | Expressions of <span class="gene" id="18270976-11-15-20">ROBO1</span> (P = 0.018) and ROBO2 (P = 0.023) were significantly reduced in the <span class="disease" id="18270976-11-89-97">autistic</span> group; the possibility of using the altered expressions of ROBO as peripheral markers for <span class="disease" id="18270976-11-188-194">autism</span>, may be explored. | CTD_human |
null | null | Negative | MESH:D014388 | null | null | lymph node | 50943 | null | Foxp3 | null | 28,021,039 | METHODS: We examined T regulatory cells (Tregs: Foxp3+), myeloid dendritic cells (myDCs: CD11c+), and mature dendritic cells (maDCs: CD86+) in lymph node (LN) and primary tissues from 84 melanoma patients prospectively accrued and followed up at New York University Medical Center using immunohistochemistry to detect Foxp3, CD11c, and CD86. | null | null | null |
1 | 0 | Biomarker | C0023418 | leukemia | disease | leukemia | 5781 | PTPN11 | Ptpn11 | CTD_human | 15,273,746 | Our results clarify the relationship between Noonan syndrome and leukemia and show that a single Ptpn11 gain-of-function mutation evokes all major features of Noonan syndrome by acting on multiple developmental lineages in a gene dosage-dependent and pathway-selective manner. | 0.217972 | Our results clarify the relationship between Noonan syndrome and <span class="disease" id="15273746-8-65-73">leukemia</span> and show that a single <span class="gene" id="15273746-8-97-103">Ptpn11</span> gain-of-function mutation evokes all major features of Noonan syndrome by acting on multiple developmental lineages in a gene dosage-dependent and pathway-selective manner. | CTD_human |
null | null | Negative | MESH:D014947 | null | null | untreated injury | 287115 | null | PgP | null | 28,088,077 | Relative to untreated injury only, PgP/siRhoA polyplexes significantly reduced RhoA mRNA and protein expression for up to 4 weeks post-injury. | null | null | null |
1 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 2006 | ELN | elastin | CTD_human | 25,106,431 | This reveals that the SPC-TNF? model is a suitable model to study processes underlying matrix remodeling and in particular elastin breakdown as seen in COPD. | 0.205755 | This reveals that the SPC-TNFα model is a suitable model to study processes underlying matrix remodeling and in particular <span class="gene" id="25106431-11-123-130">elastin</span> breakdown as seen in <span class="disease" id="25106431-11-152-156">COPD</span>. | CTD_human |
1 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmune diseases | 26191 | PTPN22 | PTPN22 | CTD_human | 21,341,673 | The lymphoid tyrosine phosphatase LYP, encoded by the PTPN22 gene, is a critical regulator of signaling in T cells and recently emerged as a candidate target for therapy of autoimmune diseases. | 0.517867 | The lymphoid tyrosine phosphatase <span class="gene" id="21341673-1-34-37">LYP</span>, encoded by the <span class="gene" id="21341673-1-54-60">PTPN22</span> gene, is a critical regulator of signaling in T cells and recently emerged as a candidate target for therapy of <span class="disease" id="21341673-1-173-192">autoimmune diseases</span>. | CTD_human;HPO |
1 | 0 | Therapeutic | C0034063 | Pulmonary Edema | phenotype | pulmonary edema | 4846 | NOS3 | eNOS | CTD_human | 16,844,920 | In conclusion, low-dose simvastatin therapy significantly improves survival and cardiac function and reduces both cardiac hypertrophy and pulmonary edema via an eNOS-dependent mechanism in a murine model of CHF. | 0.205415 | In conclusion, low-dose simvastatin therapy significantly improves survival and cardiac function and reduces both cardiac hypertrophy and <span class="disease" id="16844920-9-138-153">pulmonary edema</span> via an <span class="gene" id="16844920-9-161-165">eNOS</span>-dependent mechanism in a murine model of CHF. | CTD_human |
null | null | Negative | MESH:D013953 | null | null | thymic stromal lymphopoietin | 20182 | null | RXR-b | null | 28,115,699 | We previously reported that selective ablation of the nuclear receptors retinoid X receptor (RXR)-a and RXR-b in mouse epidermal keratinocytes (RXR-ab<sup>ep-/-</sup>) or a topical application of active vitamin D3 (VD3) and/or all-trans retinoic acid (RA) on wild-type mouse skin induces a human atopic dermatitis-like phenotype that is triggered by an increased expression of the thymic stromal lymphopoietin (TSLP) proinflammatory cytokine. | null | null | null |
1 | 0 | Biomarker | C0030305 | Pancreatitis | disease | pancreatitis | 9075 | CLDN2 | CLDN2 | CTD_human | 23,143,602 | Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. | 0.200275 | Common genetic variants in the <span class="gene" id="23143602-0-31-36">CLDN2</span> and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic <span class="disease" id="23143602-0-102-114">pancreatitis</span>. | CTD_human |
2 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 4318 | MMP9 | MMP-9 | CTD_human | 11,742,282 | Murine TDI-induced asthma includes findings of (1) increased inflammatory cells, including neutrophils, lymphocytes, and eosinophils; (2) histologic changes, including infiltration of inflammatory cells around bronchioles, thickened airway epithelium, and accumulation of mucus and debris in the bronchioles; (3) increased MMP-9 activity in inflammatory cells in the airway lumen; and (4) airway hyperresponsiveness. | 0.226878 | Murine TDI-induced <span class="disease" id="11742282-7-19-25">asthma</span> includes findings of (1) increased inflammatory cells, including neutrophils, lymphocytes, and eosinophils; (2) histologic changes, including infiltration of inflammatory cells around bronchioles, thickened airway epithelium, and accumulation of mucus and debris in the bronchioles; (3) increased <span class="gene" id="11742282-7-323-328">MMP-9</span> activity in inflammatory cells in the airway lumen; and (4) airway hyperresponsiveness. | CTD_human |
22 | 50 | Biomarker | C0031069 | Familial Mediterranean Fever | disease | familial Mediterranean fever | 4210 | MEFV | pyrin | CTD_human | 15,805,719 | A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I. | 0.872795 | A Japanese patient with <span class="disease" id="15805719-0-24-52">familial Mediterranean fever</span> associated with compound heterozygosity for <span class="gene" id="15805719-0-97-102">pyrin</span> variant E148Q/M694I. | CTD_human;ORPHANET;UNIPROT |
3 | 1 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 159296 | NKX2-3 | NKX2-3 | CTD_human | 18,438,405 | Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. | 0.215658 | Among these loci, we identified variants in 3p21.31, <span class="gene" id="18438405-2-53-59">NKX2-3</span> and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with <span class="disease" id="18438405-2-183-201">ulcerative colitis</span> in our sample collection. | CTD_human |
1 | 3 | Biomarker | C0206624 | Hepatoblastoma | disease | hepatoblastoma | 1499 | CTNNB1 | CTNNB1 | CTD_human | 21,237,236 | In CTNNB1-mutated hepatoblastoma, expression of GS was only detected in tumour areas with epithelial, not with mesenchymal differentiation. | 0.208227 | In <span class="gene" id="21237236-7-3-9">CTNNB1</span>-mutated <span class="disease" id="21237236-7-18-32">hepatoblastoma</span>, expression of GS was only detected in tumour areas with epithelial, not with mesenchymal differentiation. | CTD_human |
1 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumors | 861 | RUNX1 | Runx1 | CTD_human | 17,909,013 | We found that prostate tumors from the Low-T mutant mice share a similar gene expression profile as androgen-independent prostate tumors from these mutant mice, which includes the deregulated expression of several genes that are up-regulated in human hormone-refractory prostate cancer, such as Vav3 and Runx1. | 0.2 | We found that <span class="disease" id="17909013-3-14-29">prostate tumors</span> from the Low-T mutant mice share a similar gene expression profile as androgen-independent <span class="disease" id="17909013-3-121-136">prostate tumors</span> from these mutant mice, which includes the deregulated expression of several genes that are up-regulated in human hormone-refractory prostate cancer, such as Vav3 and <span class="gene" id="17909013-3-304-309">Runx1</span>. | CTD_human |
7 | 6 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 288 | ANK3 | ANK3 | CTD_human | 18,711,365 | Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. | 0.416953 | Collaborative genome-wide association analysis supports a role for <span class="gene" id="18711365-0-67-71">ANK3</span> and CACNA1C in <span class="disease" id="18711365-0-87-103">bipolar disorder</span>. | CTD_human;PSYGENET |
null | null | Negative | MESH:D004194 | null | null | neurovisceral disease | 18145 | null | NPC1 | null | 28,167,839 | UNASSIGNED: Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. | null | null | null |
null | null | Negative | MESH:D009123 | null | null | hypotonia | 208869 | null | Dock3 | null | 28,195,318 | Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. | null | null | null |
1 | 0 | Biomarker | C0026764 | Multiple Myeloma | disease | MM | 2952 | GSTT1 | GSTT1 | CTD_human | 16,949,155 | Individuals who carried polymorphisms for GSTT1 null and/or high activity microsomal epoxide hydrolase (mEH 113YY+139HR or 113YY+139RR or 113YH+139RR) and/or low activity NAD(P)H:quinone oxidoreductase 1 (NQO1 187PS/SS) were 1.65, 2.49 and 13 times more likely to have MM (P(trend)=0.001). | 0.206188 | Individuals who carried polymorphisms for <span class="gene" id="16949155-3-42-47">GSTT1</span> null and/or high activity microsomal epoxide hydrolase (mEH 113YY+139HR or 113YY+139RR or 113YH+139RR) and/or low activity NAD(P)H:quinone oxidoreductase 1 (NQO1 187PS/SS) were 1.65, 2.49 and 13 times more likely to have <span class="disease" id="16949155-3-269-271">MM</span> (P(trend)=0.001). | CTD_human |
1 | 0 | Biomarker | C0023418 | leukemia | disease | leukemia | 8877 | SPHK1 | sphingosine kinase 1 | CTD_human | 18,283,525 | Implications of sphingosine kinase 1 expression level for the cellular sphingolipid rheostat: relevance as a marker for daunorubicin sensitivity of leukemia cells. | 0.200275 | Implications of <span class="gene" id="18283525-0-16-36">sphingosine kinase 1</span> expression level for the cellular sphingolipid rheostat: relevance as a marker for daunorubicin sensitivity of <span class="disease" id="18283525-0-148-156">leukemia</span> cells. | CTD_human |
1 | 0 | Biomarker | C0339527 | Leber Congenital Amaurosis | disease | Leber congenital amaurosis | 9227 | LRAT | LRAT | CTD_human | 19,339,306 | Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans. | 0.401374 | Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (<span class="gene" id="19339306-1-94-98">LRAT</span>) genes cause <span class="disease" id="19339306-1-112-138">Leber congenital amaurosis</span> (LCA), a severe visual impairment in humans. | CTD_human;ORPHANET |
6 | 24 | Biomarker | C0403814 | Congenital bilateral aplasia of vas deferens | disease | Congenital bilateral absence of the vas deferens | 1080 | CFTR | cystic fibrosis transmembrane conductance regulator | CTD_human | 11,119,745 | Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. | 0.711528 | <span class="disease" id="11119745-0-0-48">Congenital bilateral absence of the vas deferens</span>: clinical characteristics, biological parameters, <span class="gene" id="11119745-0-99-150">cystic fibrosis transmembrane conductance regulator</span> gene mutations, and implications for genetic counseling. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D003677 | null | null | deficient epidermis | 74244 | null | Atg7 | null | 28,012,437 | Similarly, in both, PQ treated mouse tail skin explants and in UVA irradiated mouse tail skin, we found a strong increase in yH2AX positive nuclei within the basal layer of Atg7 deficient epidermis. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | inherited disorders | 394436 | null | UGT1A1 | null | 28,213,806 | BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. | null | null | null |
22 | 0 | Therapeutic | C0025202 | melanoma | disease | melanoma | 3558 | IL2 | interleukin-2 | CTD_human | 16,432,458 | Twenty-three patients with advanced inoperable melanoma were hospitalized for 5-6 days for the following treatment: cisplatin 20 mg/m daily for 4 days, vinblastine 1.6 mg/m daily for 4 days and oral temozolomide 250 mg/m daily for 5 days, with 18 x 10 IU/m intravenous interleukin-2 by continuous infusion for 4 days (the dose was cut daily by 50%) and 5 x 10 U/m interferon-alfa subcutaneously daily for 5 days, repeated at 28-day intervals for a maximum of nine courses. | 0.234261 | Twenty-three patients with advanced inoperable <span class="disease" id="16432458-2-47-55">melanoma</span> were hospitalized for 5-6 days for the following treatment: cisplatin 20 mg/m daily for 4 days, vinblastine 1.6 mg/m daily for 4 days and oral temozolomide 250 mg/m daily for 5 days, with 18 x 10 IU/m intravenous <span class="gene" id="16432458-2-269-282">interleukin-2</span> by continuous infusion for 4 days (the dose was cut daily by 50%) and 5 x 10 U/m interferon-alfa subcutaneously daily for 5 days, repeated at 28-day intervals for a maximum of nine courses. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | triple negative breast carcinoma | 100037293 | null | PD-1 | null | 28,072,971 | Objective: To investigate the correlation between the expression of PD-1, PD-L1 and clinicopathologic parameters in triple negative breast carcinoma (TNBC). | null | null | null |
null | null | Negative | MESH:D012175 | null | null | Rb | 22060 | null | p53 | null | 28,099,924 | Rb depletion in p53-null mouse-derived soft tissue sarcoma cells induced a spherogenic phenotype. | null | null | null |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 153 | ADRB1 | ADRB1 | CTD_human | 12,032,746 | Association between obesity and a polymorphism in the beta(1)-adrenoceptor gene (Gly389Arg ADRB1) in Caucasian women. | 0.231357 | Association between <span class="disease" id="12032746-0-20-27">obesity</span> and a polymorphism in the <span class="gene" id="12032746-0-54-74">beta(1)-adrenoceptor</span> gene (Gly389Arg <span class="gene" id="12032746-0-91-96">ADRB1</span>) in Caucasian women. | CTD_human |
null | null | Negative | MESH:D003677 | null | null | Mule deficiency | 9314 | null | KLF4 | null | 28,084,302 | Mule is elevated in T cells upon TCR engagement, and Mule deficiency in T cells blocks proliferation because KLF4 accumulates and drives upregulation of its transcriptional targets E2F2 and the cyclin-dependent kinase inhibitors p21 and p27. | null | null | null |
null | null | Negative | MESH:D016609 | null | null | TMAT | 8128 | null | STx | null | 28,037,027 | TMAT delivery was implemented on Varian TrueBeamTM STx via XML scripts. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | cytotoxicity | 60505 | null | IL-21 | null | 28,015,280 | CONCLUSIONS: In both in vitro and in vivo studies, IL-21 synergistically enhanced rituximab mediated cytotoxicity. | null | null | null |
1 | 0 | Therapeutic | C0004364 | Autoimmune Diseases | group | autoimmunity | 567 | B2M | ?2-microglobulin | CTD_human | 21,793,797 | ?2-microglobulin is required for the full expression of xenobiotic-induced systemic autoimmunity. | 0.200275 | <span class="gene" id="21793797-0-0-16">β2-microglobulin</span> is required for the full expression of xenobiotic-induced systemic <span class="disease" id="21793797-0-84-96">autoimmunity</span>. | CTD_human |
1 | 0 | Biomarker | C0006840 | Candidiasis | disease | candidiasis | 326 | AIRE | AIRE | CTD_human | 12,050,215 | The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations. | 0.208437 | The only association between the phenotype and the <span class="gene" id="12050215-6-51-55">AIRE</span> genotype was the higher prevalence of <span class="disease" id="12050215-6-94-105">candidiasis</span> in the patients with the most common mutation, R257X, than in those with other mutations. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | EPO | CTD_human | 7,602,351 | r-Hu-EPO at a dose of either 150 or 300 IU/kg three times weekly delays the onset of anemia and reduces RBC transfusion requirements in patients who undergo intensive chemotherapy for SCLC. | 0.24092 | r-Hu-<span class="gene" id="7602351-12-5-8">EPO</span> at a dose of either 150 or 300 IU/kg three times weekly delays the onset of <span class="disease" id="7602351-12-85-91">anemia</span> and reduces RBC transfusion requirements in patients who undergo intensive chemotherapy for SCLC. | CTD_human |
null | null | Negative | MESH:D014972 | null | null | juvenile xanthogranuloma | 4763 | null | NF-1 | null | 28,189,268 | The association of NF-1, juvenile xanthogranuloma (JXG), and juvenile myelomonocytic leukemia has been described in the literature. | null | null | null |
3 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 2 | A2M | Alpha-2 macroglobulin | CTD_human | 9,697,696 | Alpha-2 macroglobulin is genetically associated with Alzheimer disease. | 0.263324 | <span class="gene" id="9697696-0-0-21">Alpha-2 macroglobulin</span> is genetically associated with <span class="disease" id="9697696-0-53-70">Alzheimer disease</span>. | CTD_human |
4 | 12 | Biomarker | C0265325 | Turcot syndrome (disorder) | disease | Turcot's syndrome | 5395 | PMS2 | PMS2 | CTD_human | 10,763,829 | Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. | 0.603846 | Evidence for a recessive inheritance of <span class="disease" id="10763829-0-40-57">Turcot's syndrome</span> caused by compound heterozygous mutations within the <span class="gene" id="10763829-0-111-115">PMS2</span> gene. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 5020 | OXT | oxytocin | CTD_human | 15,288,368 | Could oxytocin administration during labor contribute to autism and related behavioral disorders?--A look at the literature. | 0.217097 | Could <span class="gene" id="15288368-0-6-14">oxytocin</span> administration during labor contribute to <span class="disease" id="15288368-0-57-63">autism</span> and related behavioral disorders?--A look at the literature. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 29624 | null | flap | null | 28,027,237 | In the random skin flap model, flap necrosis is caused by both arterial and venous insufficiency. | null | null | null |
null | null | Negative | MESH:D018205 | null | null | white adipose tissue | 25325 | null | IL-10 | null | 28,077,915 | Glucose, nonesterified free fatty acids (NEFAs), insulin, leptin, and corticosterone were measured in plasma and tumor necrosis factor- (TNF-) a, interleukin- (IL-) 1b, IL-6, and IL-10 in plasma, and subcutaneous, intraperitoneal, and visceral compartments of white adipose tissue (WAT). | null | null | null |
3 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 7450 | VWF | vWf | CTD_human | 12,149,661 | The levels of adhesion molecules (intercellular cell adhesion molecule-1 [ICAM-1], E-selectin, P-selectin), von Willebrand factor (vWf) and endothelin-1 were measured in patients with hypertension without any other risk factors of atherosclerosis before and after treatment with quinapril (n = 22) and in normotensive controls (n = 22). | 0.203781 | The levels of adhesion molecules (intercellular cell adhesion molecule-1 [ICAM-1], E-selectin, P-selectin), <span class="gene" id="12149661-3-108-129">von Willebrand factor</span> (<span class="gene" id="12149661-3-131-134">vWf</span>) and endothelin-1 were measured in patients with <span class="disease" id="12149661-3-184-196">hypertension</span> without any other risk factors of atherosclerosis before and after treatment with quinapril (n = 22) and in normotensive controls (n = 22). | CTD_human |
16 | 16 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | nsclc | 1956 | EGFR | EGFR | CTD_human | 22,787,412 | As more health authorities approve targeted compounds in a variety of treatment lines, use of this approach is expected only to increase.Gefitinib, an oral tyrosine kinase inhibitor (tki), is approved by Health Canada in the first-line setting of advanced non-small-cell lung carcinoma (nsclc) for tumours that harbour the EGFR gene mutation. | 0.345967 | As more health authorities approve targeted compounds in a variety of treatment lines, use of this approach is expected only to increase.Gefitinib, an oral tyrosine kinase inhibitor (tki), is approved by Health Canada in the first-line setting of advanced <span class="disease" id="22787412-2-256-285">non-small-cell lung carcinoma</span> (<span class="disease" id="22787412-2-287-292">nsclc</span>) for tumours that harbour the <span class="gene" id="22787412-2-323-327">EGFR</span> gene mutation. | CTD_human |
null | null | Negative | MESH:C564481 | null | null | X-linked retinitis pigmentosa | 1121 | null | CHM | null | 28,112,135 | Sequencing data were analyzed for the CHM, RPGR, and RP2 genes that have been implicated in CHM and X-linked retinitis pigmentosa (XLRP), respectively. | null | null | null |
2 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | malignant mesothelioma | 4162 | MCAM | CD146 | CTD_human | 22,784,439 | Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, ?-catenin, melan-A, glucose transporter-1, cytokeratin CAM5.2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma. | 0.28 | Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, β-catenin, melan-A, glucose transporter-1, cytokeratin CAM5.2, Wilms tumor antigen-1, D2-40, <span class="gene" id="22784439-5-177-182">CD146</span>, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of <span class="disease" id="22784439-5-264-286">malignant mesothelioma</span>. | CTD_human |
null | null | Negative | MESH:D054877 | null | null | WHS | 6323 | null | SCN1A | null | 28,102,593 | Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. | null | null | null |
1 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | end-stage renal disease | 4803 | NGF | Nerve growth factor | CTD_human | 24,244,623 | Nerve growth factor serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, end-stage renal disease and, particularly, in renal transplant. | 0.200275 | <span class="gene" id="24244623-2-0-19">Nerve growth factor</span> serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, <span class="disease" id="24244623-2-144-167">end-stage renal disease</span> and, particularly, in renal transplant. | CTD_human |
1 | 0 | Therapeutic | C1168401 | Squamous cell carcinoma of the head and neck | disease | head and neck squamous cell carcinoma | 3814 | KISS1 | KiSS1 | CTD_human | 21,383,688 | KiSS1 mediates platinum sensitivity and metastasis suppression in head and neck squamous cell carcinoma. | 0.200275 | <span class="gene" id="21383688-0-0-5">KiSS1</span> mediates platinum sensitivity and metastasis suppression in <span class="disease" id="21383688-0-66-103">head and neck squamous cell carcinoma</span>. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 11,828,949 | Double-blind randomized control trial of the effect of recombinant human erythropoietin on chemotherapy-induced anemia in patients with non-small cell lung cancer. | 0.24092 | Double-blind randomized control trial of the effect of recombinant human <span class="gene" id="11828949-0-73-87">erythropoietin</span> on chemotherapy-induced <span class="disease" id="11828949-0-112-118">anemia</span> in patients with non-small cell lung cancer. | CTD_human |
1 | 0 | Biomarker | C0024299 | Lymphoma | group | lymphoma | 4851 | NOTCH1 | Notch1 | CTD_human | 18,798,262 | Notch1 is a frequent mutational target in chemically induced lymphoma in mouse. | 0.212869 | <span class="gene" id="18798262-0-0-6">Notch1</span> is a frequent mutational target in chemically induced <span class="disease" id="18798262-0-61-69">lymphoma</span> in mouse. | CTD_human |
null | null | Negative | MESH:D052517 | null | null | MSD | 3569 | null | IL-6 | null | 28,132,942 | Then five other cytokines of interest (IL-1b, IL-6, IL-10, IL-12p70 and IFN-y) were simultaneously quantified with a MSD( ) multiplex assay. | null | null | null |
2 | 0 | Therapeutic | C0014544 | Epilepsy | disease | epileptic | 4852 | NPY | neuropeptide Y | CTD_human | 20,064,661 | Results suggest that neuropeptide Y (as anticonvulsant) might act in protective mechanisms occurred during epileptic phenomena. | 0.201374 | Results suggest that <span class="gene" id="20064661-13-21-35">neuropeptide Y</span> (as anticonvulsant) might act in protective mechanisms occurred during <span class="disease" id="20064661-13-107-116">epileptic</span> phenomena. | CTD_human |
null | null | Negative | MESH:D000012 | null | null | ABL | 2322 | null | FLT3 | null | 28,019,981 | In preclinical models, ponatinib also inhibits the FLT3/ITD mutant prevalent in AML with potency similar to that of BCR-ABL (IC50 2 nM). | null | null | null |
1 | 0 | Biomarker | C0009404 | Colorectal Neoplasms | group | colorectal tumors | 7849 | PAX8 | PAX8 | CTD_human | 26,075,790 | We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). | 0.200275 | We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for <span class="gene" id="26075790-3-222-226">PAX8</span> at 2q13 in <span class="disease" id="26075790-3-238-255">colorectal tumors</span> (P = 0.03, FDR = 0.09). | CTD_human |
null | null | Negative | MESH:D003072 | null | null | cognitive deficits | 19164 | null | PS1 | null | 28,065,587 | Taken together, our data demonstrated that the reversal effect of FFPM on cognitive deficits in APP/PS1 transgenic mice might be related to stimulation of the cAMP/PKA/CREB/BDNF pathway and anti-inflammatory effects. | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anaemia | 2056 | EPO | erythropoietin | CTD_human | 16,637,862 | Ribavirin-induced anaemia was treated with high doses of erythropoietin and low doses of iron.Blood-transfusions were not needed. | 0.24092 | Ribavirin-induced <span class="disease" id="16637862-8-18-25">anaemia</span> was treated with high doses of <span class="gene" id="16637862-8-57-71">erythropoietin</span> and low doses of iron.Blood-transfusions were not needed. | CTD_human |
null | null | Negative | MESH:D001523 | null | null | nociceptive behaviors | 21336 | null | NK1 receptor | null | 28,131,781 | pretreatment with takykinin NK1 receptor antagonists eliminated the nociceptive behaviors induced by 0.02 amol of spermine, but did not affect the nociceptive behaviors induced by 10 pmol of spermine. | null | null | null |
96 | 174 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | WND | 540 | ATP7B | ATP7B | CTD_human | 23,963,605 | In Wilson's disease (WND), biallelic ATP7B gene mutation is responsible for pathological copper accumulation in the liver, brain and other organs. | 0.885769 | In <span class="disease" id="23963605-1-3-19">Wilson's disease</span> (<span class="disease" id="23963605-1-21-24">WND</span>), biallelic <span class="gene" id="23963605-1-37-42">ATP7B</span> gene mutation is responsible for pathological copper accumulation in the liver, brain and other organs. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D030342 | null | null | Molecular dynamics | 1017 | null | CDK2 | null | 28,125,165 | Molecular dynamics (MD) simulations of inhibitors bound to CDK2 and CDK7 generated possible models of inhibitor binding. | null | null | null |
null | null | Negative | MESH:D018805 | null | null | sepsis | 14182 | null | FGFR1 | null | 28,187,268 | Although sepsis-released HS fragments maintained this ability to activate FGFR1, sepsis was associated with the downstream absence of reparative pulmonary endothelial FGFR1 induction. | null | null | null |
2 | 0 | Biomarker | C3501848 | Nephrosis, congenital | disease | congenital nephrotic syndrome | 4868 | NPHS1 | NPHS1 | CTD_human | 11,012,881 | The recently identified gene NPHS1 with its mutations causing congenital nephrotic syndrome of the Finnish type (CNF) is highly promising in providing new understanding of pathophysiology of proteinuria. | 0.416693 | The recently identified gene <span class="gene" id="11012881-1-29-34">NPHS1</span> with its mutations causing <span class="disease" id="11012881-1-62-91">congenital nephrotic syndrome</span> of the Finnish type (CNF) is highly promising in providing new understanding of pathophysiology of proteinuria. | CTD_human;HPO |
null | null | Negative | MESH:D004194 | null | null | multisystem disorder | 7249 | null | TSC2 | null | 28,053,551 | Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | apoptosis | 596 | null | Bcl-2 | null | 28,128,446 | Beclin1 interacts with Bcl-2, an anti-apoptotic protein thereby engaging it to facilitate apoptosis upon AGE stimulation. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | type 2 diabetes mellitus | 14652 | null | glucagon-like peptide-1 receptor | null | 28,138,003 | UNASSIGNED: Liraglutide is the glucagon-like peptide-1 receptor agonist widely used for the treatment of type 2 diabetes mellitus. | null | null | null |
1 | 1 | Biomarker | C0023434 | Chronic Lymphocytic Leukemia | disease | CLL | 25865 | PRKD2 | PRKD2 | CTD_human | 18,758,461 | We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)). | 0.207496 | We identified six previously unreported <span class="disease" id="18758461-2-40-43">CLL</span> risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, <span class="gene" id="18758461-2-293-298">PRKD2</span>; P = 3.96 x 10(-9)). | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | rHuEPO-beta | CTD_human | 12,820,454 | Our data suggest that rHuEPO-beta correctable CAB-induced anemia occurs in 14.3% of prostate cancer patients after 6 months of therapy. | 0.24092 | Our data suggest that <span class="gene" id="12820454-14-22-33">rHuEPO-beta</span> correctable CAB-induced <span class="disease" id="12820454-14-58-64">anemia</span> occurs in 14.3% of prostate cancer patients after 6 months of therapy. | CTD_human |
1 | 0 | Biomarker | C0018798 | Congenital Heart Defects | group | heart defects | 27125 | AFF4 | AFF4 | CTD_human | 25,730,767 | Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). | 0.200275 | Using exome sequencing, we discovered missense mutations in <span class="gene" id="25730767-3-60-64">AFF4</span>, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for <span class="disease" id="25730767-3-293-306">heart defects</span>, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). | CTD_human |
null | null | Negative | MESH:D028361 | null | null | mitochondrial dysfunction | 31607 | null | PINK1 | null | 28,137,779 | Neurodegeneration is also connected to changes in lipid homeostasis, but how these are related to PINK1-induced mitochondrial dysfunction is unknown. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | genetic instability | 14056 | null | Ezh2 | null | 28,173,837 | Although none of the treatments induced genetic instability or enhanced mutagenesis, mutations in Ezh2 and Hras were enriched in X10/IGF1 treatment tumors. | null | null | null |
1 | 0 | Biomarker | C0162871 | Aortic Aneurysm, Abdominal | disease | AAA | 185 | AGTR1 | AT1aR | CTD_human | 22,539,767 | These data reveal an unrecognized role of transient sex hormone exposures during neonatal development as long-lasting mediators of regional aortic AT1aR expression and sexual dimorphism of AAAs. | 0.214009 | These data reveal an unrecognized role of transient sex hormone exposures during neonatal development as long-lasting mediators of regional aortic <span class="gene" id="22539767-13-147-152">AT1aR</span> expression and sexual dimorphism of <span class="disease" id="22539767-13-189-192">AAA</span>s. | CTD_human |
2 | 0 | Biomarker | C0242350 | Erectile dysfunction | disease | erectile dysfunction | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 17,071,732 | Mesenchymal stem cells alone or ex vivo gene modified with endothelial nitric oxide synthase reverse age-associated erectile dysfunction. | 0.226883 | Mesenchymal stem cells alone or ex vivo gene modified with <span class="gene" id="17071732-0-59-92">endothelial nitric oxide synthase</span> reverse age-associated <span class="disease" id="17071732-0-116-136">erectile dysfunction</span>. | CTD_human |
13 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 3952 | LEP | leptin | CTD_human | 9,502,777 | Troglitazone also caused a dramatic decrease in the expression levels of leptin, which were increased by 4-10-fold in the white adipose tissues of obese rats. | 0.72 | Troglitazone also caused a dramatic decrease in the expression levels of <span class="gene" id="9502777-9-73-79">leptin</span>, which were increased by 4-10-fold in the white adipose tissues of <span class="disease" id="9502777-9-147-152">obese</span> rats. | CTD_human;HPO |
2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 2305 | FOXM1 | Foxm1 | CTD_human | 16,489,016 | We show that Mx-Cre Foxm1-/- mice exhibit diminished proliferation of lung tumor cells causing a significant reduction in number and size of lung adenomas. | 0.201374 | We show that Mx-Cre <span class="gene" id="16489016-5-20-25">Foxm1</span>-/- mice exhibit diminished proliferation of <span class="disease" id="16489016-5-70-80">lung tumor</span> cells causing a significant reduction in number and size of lung adenomas. | CTD_human |
null | null | Negative | MESH:D011470 | null | null | prostatic stromal hyperplasia | 21803 | null | transforming growth factor-b | null | 28,191,756 | In this study, we show that aberrant activation of transforming growth factor-b (TGF-b) mobilizes mesenchymal/stromal stem cells (MSCs) in circulating blood, which are recruited for the prostatic stromal hyperplasia. | null | null | null |
null | null | Negative | MESH:D058866 | null | null | Osteoporotic Fractures | 8011 | null | MrOS | null | 28,177,140 | To investigate the association of P with bone mineral density (BMD) and fracture risk, we assessed two population-based cohorts: the Dutch Rotterdam Study (RS-I, RS-II, RS-III; n = 6791) and the US Osteoporotic Fractures in Men (MrOS; n = 5425) study. | null | null | null |
null | null | Negative | MESH:D006623 | null | null | von Hippel Lindau | 30956 | null | SDH | null | 28,036,268 | Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1a stabilization. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 2950 | null | GSTP1 | null | 28,014,577 | CONCLUSION: Genomic polymorphisms in XPD, GSTP1, TS, and COX2 promoter may predict toxicity to 5-FU/oxaliplatin chemotherapy. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 5914 | RARA | Rara | CTD_human | 18,026,104 | We further show that deletion of a single retinoic acid receptor alpha (Rara) allele in a Trim24-null background suppresses HCC development and restores wild-type expression of retinoic acid-responsive genes in the liver, thus demonstrating that in this genetic background Rara expresses an oncogenic activity correlating with a dysregulation of the retinoic acid signaling pathway. | 0.201374 | We further show that deletion of a single <span class="gene" id="18026104-5-42-70">retinoic acid receptor alpha</span> (<span class="gene" id="18026104-5-72-76">Rara</span>) allele in a Trim24-null background suppresses <span class="disease" id="18026104-5-124-127">HCC</span> development and restores wild-type expression of retinoic acid-responsive genes in the liver, thus demonstrating that in this genetic background <span class="gene" id="18026104-5-273-277">Rara</span> expresses an oncogenic activity correlating with a dysregulation of the retinoic acid signaling pathway. | CTD_human |
17 | 19 | Therapeutic | C0162568 | Erythropoietic Protoporphyria | disease | erythropoietic protoporphyria | 2235 | FECH | ferrochelatase | CTD_human | 15,793,285 | BALB/c Fech(m1Pas) mice have a mutated ferrochelatase gene resulting in protoporphyria that models the hepatic injury occurring sporadically in human erythropoietic protoporphyria. | 0.730919 | BALB/c Fech(m1Pas) mice have a mutated <span class="gene" id="15793285-1-39-53">ferrochelatase</span> gene resulting in <span class="disease" id="15793285-1-72-86">protoporphyria</span> that models the hepatic injury occurring sporadically in human <span class="disease" id="15793285-1-150-179">erythropoietic protoporphyria</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D014947 | null | null | constriction injury | 24257 | null | CeA | null | 28,057,459 | Furthermore, chronic constriction injury bilaterally augments nociceptive amygdala (in the central nucleus of the amygdala [CeA]) PACAP immunoreactivity, extracellular signal-regulated kinase phosphorylation, and c-Fos activation, in parallel with heightened anxiety-like behavior and nociceptive hypersensitivity. | null | null | null |
null | null | Negative | MESH:D013734 | null | null | androgen receptor | 5241 | null | progesterone receptor | null | 28,041,593 | Western blot-, mRNA expression- and immunohistochemical analyses were performed to assess the expression profile of the sex hormone receptors - androgen receptor (AR), progesterone receptor (PR), estrogen receptor a (ERa) and b (ERb). | null | null | null |
null | null | Negative | MESH:D017827 | null | null | Wild type | 18131 | null | Notch3 | null | 28,131,704 | APPROACH AND RESULTS: Wild type (WT) and Notch3 knockout (Notch3KO) mice were subjected to MI by the ligation of left anterior descending coronary artery (LAD). | null | null | null |