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1 | 0 | Biomarker | C0017150 | Gastrinoma | disease | gastrinomas | 4221 | MEN1 | menin | CTD_human | 17,961,653 | Somatic mutations of menin are present in about 20% of sporadic neoplasms, particularly gastrinomas and insulinomas.30-75% of patients with MEN1 have EPTs. | 0.213144 | Somatic mutations of <span class="gene" id="17961653-4-21-26">menin</span> are present in about 20% of sporadic neoplasms, particularly <span class="disease" id="17961653-4-88-99">gastrinomas</span> and insulinomas.30-75% of patients with MEN1 have EPTs. | CTD_human |
null | null | Negative | MESH:D017674 | null | null | hypophosphatemia | 116568 | null | gamma-glutamyl transferase | null | 28,141,910 | RESULTS: VPA-treated animals developed biochemical evidence of FS as judged by elevated serum gamma-glutamyl transferase (y-GT), alkaline phosphatase (ALP), creatinine (Cr), and blood urea nitrogen (BUN) along with hypokalemia, hypophosphatemia, and a decrease in serum uric acid. | null | null | null |
1 | 1 | Biomarker | C0004096 | Asthma | disease | asthmatics | 22806 | IKZF3 | IKAROS family zinc finger 3 (Aiolo | CTD_human | 25,256,354 | In the Swedish Search study, we found significant differences in DNA methylation between asthmatics and controls in five CpG sites; after adjusting for lymphocyte and neutrophil cell counts, three remained significant: one in IKZF3 [IKAROS family zinc finger 3 (Aiolos); cg16293631] and two in the CpG island (CGI) of ORMDL3 (cg02305874 and cg16638648). | 0.201099 | In the Swedish Search study, we found significant differences in DNA methylation between <span class="disease" id="25256354-5-89-99">asthmatics</span> and controls in five CpG sites; after adjusting for lymphocyte and neutrophil cell counts, three remained significant: one in <span class="gene" id="25256354-5-226-231">IKZF3</span> [<span class="gene" id="25256354-5-233-267">IKAROS family zinc finger 3 (Aiolo</span>s); cg16293631] and two in the CpG island (CGI) of ORMDL3 (cg02305874 and cg16638648). | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 4715;9595;730 | null | B1-1, B2-2, B3-1, C-7 | null | 28,020,127 | Of 12 tumors (B1-1, B2-2, B3-1, C-7, atypical carcinoid-1) evaluated for overexpression of HER2 by IHC, none was positive. | null | null | null |
null | null | Negative | MESH:D001327 | null | null | autoimmune diseases | 19696 | null | c-Rel | null | 28,202,908 | Taken together, our findings indicate that targeting c-Rel in macrophages dampens CNS-specific Th1 and Th17 immune responses, and can be effective for treating autoimmune diseases of the CNS. | null | null | null |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | adrenocorticotropic hormone | CTD_human | 16,620,303 | Atorvastatin prevented and partially reversed adrenocorticotropic hormone-induced hypertension in the rat. | 0.203846 | Atorvastatin prevented and partially reversed <span class="gene" id="16620303-0-46-73">adrenocorticotropic hormone</span>-induced <span class="disease" id="16620303-0-82-94">hypertension</span> in the rat. | CTD_human |
null | null | Negative | MESH:D010190 | null | null | pancreatic cancer | 338399;338412 | null | PS 0, 1 or 2 | null | 28,142,856 | RESULTS: From January 2006 to December 2010, 157 patients, PS 0, 1 or 2, with newly diagnosis of advanced pancreatic cancer were retrospectively enrolled. | null | null | null |
null | null | Negative | MESH:D008545 | null | null | metastatic melanoma | 22339 | null | vascular endothelial growth factor | null | 28,003,234 | Fingolimod has been found to inhibit metastatic melanoma growth in a mouse model that depends on vascular endothelial growth factor (VEGF)-induced angiogenesis for metastasis. | null | null | null |
null | null | Negative | MESH:D019851 | null | null | venous thrombosis | 25833 | null | PlA1/A2 | null | 28,081,621 | Polymorphism PlA1/A2 in the gene of GPIIb/IIIa is among the risk factors for the development of arterial and venous thrombosis. | null | null | null |
68 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 3,015,460 | Changes in pressor responsiveness do not explain ACTH hypertension. | 0.203846 | Changes in pressor responsiveness do not explain <span class="gene" id="3015460-6-49-53">ACTH</span> <span class="disease" id="3015460-6-54-66">hypertension</span>. | CTD_human |
1 | 0 | Biomarker | C0149721 | Left Ventricular Hypertrophy | disease | left ventricular hypertrophy | 9518 | GDF15 | growth-differentiation factor 15 | CTD_human | 19,505,289 | The haplotype of the growth-differentiation factor 15 gene is associated with left ventricular hypertrophy in human essential hypertension. | 0.202682 | The haplotype of the <span class="gene" id="19505289-0-21-53">growth-differentiation factor 15</span> gene is associated with <span class="disease" id="19505289-0-78-106">left ventricular hypertrophy</span> in human essential hypertension. | CTD_human |
null | null | Negative | MESH:D001745 | null | null | bladder distention | 310738 | null | NGF | null | 28,174,025 | At 4 or 8weeks after SCI, differences in the mean arterial blood pressure ( MAP) and heart rate ( MHR) during graded increases in intravesical pressure to 20, 40 and 60cm H2O from those before bladder distention and NGF protein levels in the bladder wall were evaluated in spinal intact and SCI rats under urethane anesthesia. | null | null | null |
null | null | Negative | MESH:D004342 | null | null | delayed-type hypersensitivity | 282665 | null | ovalbumin | null | 28,160,490 | Acute toxicity and local irritating effect, anaphylactic reactions to different antigens (vaccine and ovalbumin), delayed-type hypersensitivity to ram erythrocytes, humoral immune response in hemaggtination reaction, immunogenic activity was studied in laboratory animals of various species (mice, rats, guinea pigs). | null | null | null |
null | null | Negative | MESH:D008659 | null | null | metabolic disorders | 297508 | null | visfatin | null | 28,078,856 | UNASSIGNED: Hypertension is one of the major endocrine and metabolic disorders, in which visfatin plays a significant role. | null | null | null |
2 | 2 | Biomarker | C0010278 | Craniosynostosis | disease | craniosynostosis | 7291 | TWIST1 | Twist | CTD_human | 12,221,714 | Mice heterozygous for a null mutation of the Twist gene replicate certain features of Saethre-Chotzen syndrome, but have not been reported to exhibit craniosynostosis. | 0.626134 | Mice heterozygous for a null mutation of the <span class="gene" id="12221714-3-45-50">Twist</span> gene replicate certain features of Saethre-Chotzen syndrome, but have not been reported to exhibit <span class="disease" id="12221714-3-150-166">craniosynostosis</span>. | CTD_human;HPO;UNIPROT |
1 | 0 | Biomarker | C0021841 | Intestinal Neoplasms | group | intestinal tumors | 3784 | KCNQ1 | Kcnq1 | CTD_human | 23,975,432 | Results demonstrated that Kcnq1 is a tumor suppressor gene as Kcnq1 mutant mice developed significantly more intestinal tumors, especially in the proximal small intestine and colon, and some of these tumors progressed to become aggressive adenocarcinomas. | 0.200275 | Results demonstrated that <span class="gene" id="23975432-3-26-31">Kcnq1</span> is a tumor suppressor gene as <span class="gene" id="23975432-3-62-67">Kcnq1</span> mutant mice developed significantly more <span class="disease" id="23975432-3-109-126">intestinal tumors</span>, especially in the proximal small intestine and colon, and some of these tumors progressed to become aggressive adenocarcinomas. | CTD_human |
1 | 0 | Biomarker | C0242350 | Erectile dysfunction | disease | ED | 1909 | EDNRA | ET(A | CTD_human | 18,823,320 | ET(A) receptor blockade may represent an alternative therapeutic approach for ED associated with salt-sensitive hypertension and in pathological conditions where increased levels of ET-1 are present. | 0.2 | <span class="gene" id="18823320-16-0-4">ET(A</span>) receptor blockade may represent an alternative therapeutic approach for <span class="disease" id="18823320-16-78-80">ED</span> associated with salt-sensitive hypertension and in pathological conditions where increased levels of ET-1 are present. | CTD_human |
null | null | Negative | MESH:D004194 | null | null | various diseases | 3578 | null | IL-9 | null | 28,040,536 | Here, we review recent research on Th9 cells and IL-9 pertaining to cell differentiation, biological characteristics and pivotal cellular inter-relationships implicated in the development of various diseases. | null | null | null |
null | null | Negative | MESH:D015658 | null | null | simian immunodeficiency virus | 1490006 | null | Vpx | null | 28,067,901 | Recombinant SAMHD1 exhibited ara-CTPase activity in vitro, and cells in which SAMHD1 expression was transiently reduced by treatment with the simian immunodeficiency virus (SIV) protein Vpx were dramatically more sensitive to ara-C-induced cytotoxicity. | null | null | null |
1 | 2 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 5771 | PTPN2 | PTPN2 | CTD_human | 22,446,963 | Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2. | 0.206188 | Our study identified nine loci newly associated with <span class="disease" id="22446963-3-53-73">rheumatoid arthritis</span> at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and <span class="gene" id="22446963-3-185-190">PTPN2</span>. | CTD_human |
null | null | Negative | MESH:D004485 | null | null | eczematous dermatitis | 3497 | null | immunoglobulin E | null | 28,050,511 | UNASSIGNED: Job's syndrome or Hyperimmunoglobulin E Syndrome (HIES) is a rare primary immunodeficiency with marked increase in serum immunoglobulin E (IgE) levels and eczematous dermatitis. | null | null | null |
null | null | Negative | MESH:D017114 | null | null | ALF | 16175 | null | IL-1a | null | 28,145,460 | CGA-JK3 consequently interrupted IKKb-inducible NF-kB activation and NF-kB-regulated expression of TNF-a, IL-1a or HMGB-1 gene, thereby improving TLRs-associated redundant inflammatory responses in endotoxemia, polymicrobial sepsis and ALF. | null | null | null |
null | null | Negative | MESH:C535700 | null | null | mesenchymal tumor | 5156 | null | PDGFRA | null | 28,021,203 | UNASSIGNED: 10043 Background: GIST is the most common mesenchymal tumor of the GI tract, associated with somatic gain-of-function mutations in KIT and less often, PDGFRA. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24494 | null | interleukin-1 beta | null | 28,095,363 | Also, alcohol administration augmented lipid peroxidation, mitochondrial oxidized glutathione (GSSG), interleukin-1 beta (IL-1b), tumor necrosis factor-alpha (TNF-a) and Bax levels in isolated hippocampal tissues. | null | null | null |
null | null | Negative | MESH:D014657 | null | null | Kawasaki disease vasculitis | 383619 | null | AIM2 | null | 28,148,962 | In conclusion, QUC inhibits both the NLRP3 and AIM2 inflammasome by preventing ASC oligomerization and may be a potential therapeutic candidate for Kawasaki disease vasculitis and other IL-1 mediated inflammatory diseases. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 4524 | null | MTHFR | null | 28,020,537 | We also tested whether specific pattern of 13 polymorphisms in 8 genes (drug metabolism [GSTP, MTHFR and TS] and DNA repair [ERCC1, RAD51, XPD, XRCC1 and XRCC3]) predicted CO. METHODS: A total of 92 patients from the S0356 study were eligible for the molecular correlative study. | null | null | null |
1 | 0 | Biomarker | C0027794 | Neural Tube Defects | group | neural tube defect | 27443 | CECR2 | Cecr2 | CTD_human | 15,640,247 | Mice homozygous for the Cecr2 genetrap-induced mutation show a high penetrance of the neural tube defect exencephaly, the human equivalent of anencephaly, in a strain-dependent fashion. | 0.200824 | Mice homozygous for the <span class="gene" id="15640247-6-24-29">Cecr2</span> genetrap-induced mutation show a high penetrance of the <span class="disease" id="15640247-6-86-104">neural tube defect</span> exencephaly, the human equivalent of anencephaly, in a strain-dependent fashion. | CTD_human |
null | null | Negative | MESH:D051436 | null | null | chronic kidney disease | 19226 | null | PTH | null | 28,094,278 | UNASSIGNED: Secondary hyperparathyroidism, in which parathyroid hormone (PTH) is excessively secreted in response to factors such as hyperphosphataemia, hypocalcaemia, and low 1,25-dihydroxyvitamin D (1,25(OH)2D) levels, is commonly observed in patients with chronic kidney disease (CKD), and is accompanied by high levels of fibroblast growth factor 23 (FGF23). | null | null | null |
1 | 0 | Biomarker | C0007758 | Cerebellar Ataxia | phenotype | ataxia | 6334 | SCN8A | SCN8A | CTD_human | 16,236,810 | Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. | 0.401099 | Heterozygosity for a protein truncation mutation of sodium channel <span class="gene" id="16236810-0-67-72">SCN8A</span> in a patient with cerebellar atrophy, <span class="disease" id="16236810-0-111-117">ataxia</span>, and mental retardation. | CTD_human;HPO |
1 | 0 | Biomarker | C1876203 | Frontonasal dysplasia | disease | frontonasal dysplasia | 10736 | SIX2 | Six2 | CTD_human | 18,570,229 | Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. | 0.200275 | Misexpression of <span class="gene" id="18570229-0-17-21">Six2</span> is associated with heritable <span class="disease" id="18570229-0-51-72">frontonasal dysplasia</span> and renal hypoplasia in 3H1 Br mice. | CTD_human |
null | null | Negative | MESH:D010538 | null | null | peritonitis | 21898 | null | TLR4 | null | 28,060,378 | In mice, mild, TLR4-dependent inflammation in the lungs and peritoneum caused a rapid increase in macrophage Adora2a and Adora2b levels, and CD73 was required to limit neutrophil influx in this peritonitis model. | null | null | null |
1 | 0 | Therapeutic | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 959 | CD40LG | CD40L | CTD_human | 20,348,957 | A therapy using a monoclonal antibody to CD40L was developed that slows weight loss, delays paralysis and extends survival in an ALS mouse model. | 0.200275 | A therapy using a monoclonal antibody to <span class="gene" id="20348957-4-41-46">CD40L</span> was developed that slows weight loss, delays paralysis and extends survival in an <span class="disease" id="20348957-4-129-132">ALS</span> mouse model. | CTD_human |
6 | 0 | Biomarker | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | disease | ALCL | 238 | ALK | ALK | CTD_human | 16,151,469 | LY293111 inhibited proliferation of both ALK(+) and ALK(-) ALCL cell in a dose-dependent fashion and induced complete G(1)-S cell cycle arrest, which was accompanied by upregulation of p27 and downregulation of cyclin E. Pretreatment with LY293111 for 4 h resulted in profound inhibition of serum-induced phosphorylation of extracellular-regulated kinases-1 and 2 and Akt and a concomitant increase in the phosphorylation of the stress-activated kinase c-jun N-terminal kinases (JNK). | 0.304596 | LY293111 inhibited proliferation of both <span class="gene" id="16151469-4-41-44">ALK</span>(+) and <span class="gene" id="16151469-4-52-55">ALK</span>(-) <span class="disease" id="16151469-4-59-63">ALCL</span> cell in a dose-dependent fashion and induced complete G(1)-S cell cycle arrest, which was accompanied by upregulation of p27 and downregulation of cyclin E. Pretreatment with LY293111 for 4 h resulted in profound inhibition of serum-induced phosphorylation of extracellular-regulated kinases-1 and 2 and Akt and a concomitant increase in the phosphorylation of the stress-activated kinase c-jun N-terminal kinases (JNK). | CTD_human |
null | null | Negative | MESH:D038061 | null | null | lower limb fatigue | 9971 | null | HRR1 | null | 28,082,094 | Heart rate recovery at the first minute (HRR1) and perceived effort Borg scale for dyspnea and lower limb fatigue were recorded in both tests scenarios. | null | null | null |
null | null | Negative | MESH:D001835 | null | null | body weight | 25105 | null | brain natriuretic peptide | null | 28,212,445 | Heart weight/body weight ratio (HW/BW), hemodynamic parameters (anaesthetized rats) and plasma brain natriuretic peptide (BNP, ELISA) were assessed in 21-day, 6-month and 22-month old rats. | null | null | null |
null | null | Negative | MESH:D017695 | null | null | TFPI | 2147 | null | thrombin | null | 28,058,802 | Results C26 mice with significant weight loss and highly elevated IL-6 had elevated thrombin generation, fibrinogen, ESR, platelets and TFPI compared with all control groups. | null | null | null |
null | null | Negative | MESH:D016609 | null | null | routine-treatment | 5125 | null | PC6 | null | 28,105,066 | The selected participants were randomly allocated to two groups: routine-treatment (RT) and EA group receiving EA at PC6, ST36, and ST37. | null | null | null |
8 | 0 | Therapeutic | C0011849 | Diabetes Mellitus | group | diabetes | 3630 | INS | INS | CTD_human | 18,162,506 | Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. | 0.537453 | Insulin mutation screening in 1,044 patients with <span class="disease" id="18162506-0-50-58">diabetes</span>: mutations in the <span class="gene" id="18162506-0-77-80">INS</span> gene are a common cause of neonatal diabetes but a rare cause of <span class="disease" id="18162506-0-146-154">diabetes</span> diagnosed in childhood or adulthood. | CTD_human;HPO |
1 | 0 | Therapeutic | C0007789 | Cerebral Palsy | disease | cerebral palsy | 5443 | POMC | Adrenocorticotropic hormone | CTD_human | 8,980,841 | Adrenocorticotropic hormone and vigabatrin treatment of children with infantile spasms underlying cerebral palsy. | 0.200275 | <span class="gene" id="8980841-0-0-27">Adrenocorticotropic hormone</span> and vigabatrin treatment of children with infantile spasms underlying <span class="disease" id="8980841-0-98-112">cerebral palsy</span>. | CTD_human |
1 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | MM | 6354 | CCL7 | MCP-3 | CTD_human | 25,162,674 | A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in MM patients: IL-12(p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p<0.001). | 0.2 | A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in <span class="disease" id="25162674-8-139-141">MM</span> patients: IL-12(p40), IL-3, IL-1 alpha, <span class="gene" id="25162674-8-182-187">MCP-3</span>, beta-NGF, TNF-beta, RANTES (p<0.001). | CTD_human |
1 | 0 | Biomarker | C0029456 | Osteoporosis | disease | osteoporosis | 1588 | CYP19A1 | CYP19 | CTD_human | 20,723,554 | Dysfunction of the enzyme aromatase (CYP19) is associated with endocrine pathologies such as osteoporosis, impaired fertility and development of hormone-dependent cancers. | 0.410071 | Dysfunction of the enzyme aromatase (<span class="gene" id="20723554-1-37-42">CYP19</span>) is associated with endocrine pathologies such as <span class="disease" id="20723554-1-93-105">osteoporosis</span>, impaired fertility and development of hormone-dependent cancers. | CTD_human;HPO |
null | null | Negative | MESH:D000783 | null | null | aneurysm | 56717 | null | mechanistic target of rapamycin | null | 28,213,405 | Taken together, these results highlight the important role of the mTOR cascade in aneurysm progression and the potential application of rapamycin as a therapeutic candidate for AAA.NEW _ NOTEWORTHY This study provides novel observations that mechanistic target of rapamycin (mTOR) signaling is overactivated in aortic smooth muscle cells and contributes to mouse abdominal aortic aneurysm (AAA) and that rapamycin protects against aneurysm development. | null | null | null |
null | null | Negative | MESH:D011087 | null | null | PV | 3716 | null | JAK1 | null | 28,023,502 | In a phase II study in HU-resistant or -intolerant PV patients, INC424, a potent and selective inhibitor of JAK1 and JAK2, was well tolerated and achieved rapid and durable clinical responses including phlebotomy independence, resolution of splenomegaly, and improvements in white blood cell counts, platelet counts, and disease-related symptoms (Verstovsek S, et al. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 17969 | null | p47phox | null | 28,191,009 | In this study, we investigated the impact of the NADPH oxidase protein p47phox, which negatively regulates IL-12 in dendritic cells, on colon cancer development in a colitis-associated colon cancer model. | null | null | null |
null | null | Negative | MESH:D013734 | null | null | AIS | 619405 | null | AIS 4 | null | 28,188,356 | Stepwise logistic regression analysis identified age >= 65 years, hypotension on admission, AIS 4 and AIS 5 as independent predictors for mortality. | null | null | null |
null | null | Negative | MESH:D001927 | null | null | increases in total cortical brain | 21336 | null | NK-1R | null | 28,202,084 | In addition, we demonstrate that this selective NK-1R antagonist also prevents increases in total cortical brain NK-1R expression and decreases in the expression of the astrocyte marker, glial fibrillary acidic protein, associated with B. burgdorferi infection. | null | null | null |
1 | 0 | Biomarker | C0400966 | Non-alcoholic Fatty Liver Disease | disease | nonalcoholic fatty liver disease | 53345 | TM6SF2 | TM6SF2 | CTD_human | 24,531,328 | Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease. | 0.205495 | Exome-wide association study identifies a <span class="gene" id="24531328-0-42-48">TM6SF2</span> variant that confers susceptibility to <span class="disease" id="24531328-0-88-120">nonalcoholic fatty liver disease</span>. | CTD_human |
null | null | Negative | MESH:D010523 | null | null | diabetic peripheral neuropathy | 22339 | null | VEGF | null | 28,091,556 | However, the contribution and mechanism of VEGF-B in diabetic peripheral neuropathy remains unclear. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | neuroinflammatory diseases | 5005 | null | ORM2 | null | 28,193,696 | ORM2 can be therapeutically exploited for the treatment of neuroinflammatory diseases.Significance StatementNeural cell interactions are important for brain physiology and pathology. | null | null | null |
1 | 0 | Biomarker | C0013338 | Pituitary dwarfism | disease | Pituitary dwarfism | 5449 | POU1F1 | Pit-1 | CTD_human | 9,392,392 | Pituitary dwarfism in the R271W Pit-1 gene mutation. | 0.201099 | <span class="disease" id="9392392-0-0-18">Pituitary dwarfism</span> in the R271W <span class="gene" id="9392392-0-32-37">Pit-1</span> gene mutation. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 196528 | ARID2 | ARID2 | CTD_human | 21,822,264 | Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma. | 0.201648 | Inactivating mutations of the chromatin remodeling gene <span class="gene" id="21822264-0-56-61">ARID2</span> in <span class="disease" id="21822264-0-65-89">hepatocellular carcinoma</span>. | CTD_human |
5 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | infantile autism | 2332 | FMR1 | FMR1 | CTD_human | 9,806,479 | CGG repeat interruptions in the FMR1 gene in patients with infantile autism. | 0.497987 | CGG repeat interruptions in the <span class="gene" id="9806479-0-32-36">FMR1</span> gene in patients with <span class="disease" id="9806479-0-59-75">infantile autism</span>. | CTD_human;HPO |
null | null | Negative | MESH:D002545 | null | null | cerebral ischemia | 83810 | null | TRPV1 | null | 28,199,737 | In this study, the effects of TRPV1 agonist (capsaicin) and antagonist (AMG9810) on cerebral ischemia were investigated. | null | null | null |
1 | 0 | Biomarker | C1136249 | Mental Retardation, X-Linked | disease | X-linked mental retardation | 1741 | DLG3 | DLG3 | CTD_human | 15,185,169 | Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. | 0.204121 | Mutations in the <span class="gene" id="15185169-0-17-21">DLG3</span> gene cause nonsyndromic <span class="disease" id="15185169-0-46-73">X-linked mental retardation</span>. | CTD_human |
7 | 0 | Biomarker | C0018801 | Heart failure | disease | heart failure | 1906 | EDN1 | endothelin-1 | CTD_human | 16,762,801 | The prognostic value of big endothelin-1 in more than 2,300 patients with heart failure enrolled in the Valsartan Heart Failure Trial (Val-HeFT). | 0.298065 | The prognostic value of big <span class="gene" id="16762801-0-28-40">endothelin-1</span> in more than 2,300 patients with <span class="disease" id="16762801-0-74-87">heart failure</span> enrolled in the Valsartan Heart Failure Trial (Val-HeFT). | CTD_human |
null | null | Negative | MESH:D007238 | null | null | infarct | 13609 | null | S1P | null | 28,017,639 | S1P treatment reduced infarct size induced by ischemia/reperfusion in Langendorff perfused wild-type (WT) hearts and this protection was abolished in the S1P<sub>3</sub>KO mouse heart. | null | null | null |
1 | 0 | Biomarker | C0013274 | Patent ductus arteriosus | disease | patency of the ductus arteriosus | 5740 | PTGIS | prostacyclin synthase | CTD_human | 19,336,370 | Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants. | 0.200275 | Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and <span class="gene" id="19336370-12-147-168">prostacyclin synthase</span> in the persistent <span class="disease" id="19336370-12-187-219">patency of the ductus arteriosus</span> seen in preterm infants. | CTD_human |
1 | 0 | Biomarker | C0021364 | Male infertility | phenotype | male infertility | 2054 | STX2 | Epim | CTD_human | 18,277,055 | We therefore concluded that the male infertility of the repro34/repro34 mouse is caused by the interruption of spermatogenesis during transition from the spermatocyte to spermatid and that the nonsense mutation of the Stx2/Epim gene is responsible for the interruption of spermatogenesis. | 0.2 | We therefore concluded that the <span class="disease" id="18277055-11-32-48">male infertility</span> of the repro34/repro34 mouse is caused by the interruption of spermatogenesis during transition from the spermatocyte to spermatid and that the nonsense mutation of the <span class="gene" id="18277055-11-218-222">Stx2</span>/<span class="gene" id="18277055-11-223-227">Epim</span> gene is responsible for the interruption of spermatogenesis. | CTD_human |
1 | 0 | Biomarker | C0036202 | Sarcoidosis | disease | sarcoidosis | 3606 | IL18 | interleukin-18 | CTD_human | 16,100,009 | Endotoxin up-regulates interleukin-18: potential role for gram-negative colonization in sarcoidosis. | 0.2209 | Endotoxin up-regulates <span class="gene" id="16100009-0-23-37">interleukin-18</span>: potential role for gram-negative colonization in <span class="disease" id="16100009-0-88-99">sarcoidosis</span>. | CTD_human |
null | null | Negative | OMIM:612348 | null | null | neurotrophic activity | 310738 | null | NGF61 | null | 28,163,105 | NGF61/100 displays a neurotrophic activity on DRG neurons comparable to that of control NGF61, despite a reduced activation of PLCy, Akt and Erk1/2. | null | null | null |
null | null | Negative | MESH:D052517 | null | null | MSD | 3553 | null | IL-1b | 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 |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 26470 | SEZ6L2 | SEZ6L2 | CTD_human | 19,242,545 | We found a significant association between autism and a coding variant in the seizure-related gene SEZ6L2 (12/1106 autism vs. 3/1161 controls; p = 0.018). | 0.202682 | We found a significant association between <span class="disease" id="19242545-8-43-49">autism</span> and a coding variant in the seizure-related gene <span class="gene" id="19242545-8-99-105">SEZ6L2</span> (12/1106 <span class="disease" id="19242545-8-115-121">autism</span> vs. 3/1161 controls; p = 0.018). | CTD_human |
1 | 0 | Biomarker | C0027796 | Neuralgia | phenotype | neuropathic pain | 3146 | HMGB1 | HMGB1 | CTD_human | 25,014,009 | Identification of a functional interaction of HMGB1 with Receptor for Advanced Glycation End-products in a model of neuropathic pain. | 0.200275 | Identification of a functional interaction of <span class="gene" id="25014009-0-46-51">HMGB1</span> with Receptor for Advanced Glycation End-products in a model of <span class="disease" id="25014009-0-116-132">neuropathic pain</span>. | CTD_human |
1 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 4846 | NOS3 | eNOS | CTD_human | 21,843,929 | Reduced levels of endothelial NOS (eNOS) and elevated levels of inducible NOS (iNOS) in the skeletal muscle of COPD patients have been recently reported. | 0.219149 | Reduced levels of <span class="gene" id="21843929-3-18-33">endothelial NOS</span> (<span class="gene" id="21843929-3-35-39">eNOS</span>) and elevated levels of inducible NOS (iNOS) in the skeletal muscle of <span class="disease" id="21843929-3-111-115">COPD</span> patients have been recently reported. | CTD_human |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 6423 | SFRP2 | sFRP2 | CTD_human | 18,404,682 | This is the first report indicating that aberrant DNA methylation and histone modifications work together to silence the sFRP2 gene in RCC cells. | 0.203832 | This is the first report indicating that aberrant DNA methylation and histone modifications work together to silence the <span class="gene" id="18404682-13-121-126">sFRP2</span> gene in <span class="disease" id="18404682-13-135-138">RCC</span> cells. | CTD_human |
null | null | Negative | MESH:D016511 | null | null | radiosensitive severe combined immunodeficiency | 64421 | null | RS-SCID | null | 28,082,683 | Loss of ARTEMIS function therefore results in radiosensitive severe combined immunodeficiency (RS-SCID). | null | null | null |
3 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 2950 | GSTP1 | GSTP1 | CTD_human | 11,994,713 | These data suggest that homozygosity for the GSTP1*Val allele confers protection against TDI-induced asthma and airway hyperresponsiveness. | 0.305203 | These data suggest that homozygosity for the <span class="gene" id="11994713-8-45-50">GSTP1</span>*Val allele confers protection against TDI-induced <span class="disease" id="11994713-8-101-107">asthma</span> and airway hyperresponsiveness. | CTD_human |
null | null | Negative | MESH:D014085 | null | null | migration | 21926 | null | TNFa | null | 28,160,574 | The role of TNFa on tumor growth and migration was examined in vitro. | null | null | null |
null | null | Negative | MESH:D015266 | null | null | Merkel cell carcinoma | 6317 | null | SCC | null | 28,097,368 | Objective: To determine the incidence and evaluate the risk factors for posttransplant skin cancer, including squamous cell carcinoma (SCC), melanoma (MM), and Merkel cell carcinoma (MCC) in a cohort of US OTRs receiving a primary organ transplant in 2003 or 2008. | null | null | null |
null | null | Negative | MESH:C562803 | null | null | HIBCH | 4524 | null | MTHFR | null | 28,097,321 | In 5 of these families, potentially treatable disorders were diagnosed (mutations in PAH, CBS, MTHFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified. | null | null | null |
2 | 0 | Therapeutic | C0028756 | Obesity, Morbid | disease | morbid obesity | 3952 | LEP | leptin | CTD_human | 15,070,752 | Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. | 0.210649 | Phenotypic effects of <span class="gene" id="15070752-0-22-28">leptin</span> replacement on <span class="disease" id="15070752-0-44-58">morbid obesity</span>, diabetes mellitus, hypogonadism, and behavior in <span class="gene" id="15070752-0-109-115">leptin</span>-deficient adults. | CTD_human |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | EPO | CTD_human | 19,015,056 | One third to half of patients with hypothyroidism have anemia due to some decrease in normal red blood cell mass and erythropoietin (EPO) resistance. | 0.24092 | One third to half of patients with hypothyroidism have <span class="disease" id="19015056-2-55-61">anemia</span> due to some decrease in normal red blood cell mass and <span class="gene" id="19015056-2-117-131">erythropoietin</span> (<span class="gene" id="19015056-2-133-136">EPO</span>) resistance. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 16153 | null | IL-10 | null | 28,011,648 | In this study, we demonstrated that anti-inflammatory cytokine IL-10 was a critical mediator for PGRN-mediated anti-inflammation in collagen-induced arthritis by using PGRN and IL-10 genetically modified mouse models. | null | null | null |
null | null | Negative | MESH:D007022 | null | null | CP | 1423;5394 | null | P1, P2, P3, and P4 | null | 28,007,380 | CP at P1, P2, P3, and P4 was 18.7 11.6, 26.7 14.4, 22.3 12.4, and 20.6 12.6 cmH2O, respectively. | null | null | null |
4 | 0 | Biomarker | C0038454 | Cerebrovascular accident | group | Stroke | 213 | ALB | ALB | CTD_human | 16,809,570 | After adjusting for the tPA effect, the probability of good outcome (defined as modified Rankin Scale 0 to 1 or NIH Stroke Scale 0 to 1 at 3 months) at the highest three ALB doses was 81% greater than in the lower dose-tiers (relative risk [RR], 1.81; 95% confidence interval [CI], 1.11 to 2.94) and was 95% greater than in the comparable NINDS rt-PA Stroke Study cohort (RR, 1.95; 95% CI, 1.47 to 2.57). | 0.200549 | After adjusting for the tPA effect, the probability of good outcome (defined as modified Rankin Scale 0 to 1 or NIH <span class="disease" id="16809570-9-116-122">Stroke</span> Scale 0 to 1 at 3 months) at the highest three <span class="gene" id="16809570-9-170-173">ALB</span> doses was 81% greater than in the lower dose-tiers (relative risk [RR], 1.81; 95% confidence interval [CI], 1.11 to 2.94) and was 95% greater than in the comparable NINDS rt-PA <span class="disease" id="16809570-9-351-357">Stroke</span> Study cohort (RR, 1.95; 95% CI, 1.47 to 2.57). | CTD_human |
1 | 0 | Biomarker | C0026552 | Morphine Dependence | disease | morphine dependence | 4318 | MMP9 | MMP-9 | CTD_human | 20,519,536 | Thus, we hypothesize that spinal MMP-9 may contribute to the development of morphine dependence primarily through neuronal activation and interaction with NR1 and NR2B receptors via integrin-beta1 and NO pathways. | 0.2 | Thus, we hypothesize that spinal <span class="gene" id="20519536-9-33-38">MMP-9</span> may contribute to the development of <span class="disease" id="20519536-9-76-95">morphine dependence</span> primarily through neuronal activation and interaction with NR1 and NR2B receptors via integrin-beta1 and NO pathways. | CTD_human |
null | null | Negative | MESH:D007029 | null | null | neurohypophysis | 4842 | null | NOS | null | 28,091,880 | At the time points 0, 4, 6, 18 and 24 h after sepsis induction the animals were decapitated and neurohypophysis and hypothalamus were removed for analysis of vasopressin content and NOS activity, respectively. | null | null | null |
2 | 0 | Biomarker | C0014457 | Eosinophilia | disease | eosinophilia | 3567 | IL5 | interleukin-5 | CTD_human | 11,006,010 | Regulation of cyclophosphamide-induced eosinophilia in contact sensitivity: functional roles of interleukin-5-producing CD4(+) lymphocytes. | 0.309287 | Regulation of cyclophosphamide-induced <span class="disease" id="11006010-0-39-51">eosinophilia</span> in contact sensitivity: functional roles of <span class="gene" id="11006010-0-96-109">interleukin-5</span>-producing CD4(+) lymphocytes. | CTD_human |
2 | 0 | Therapeutic | C0027947 | Neutropenia | disease | neutropenia | 1437 | CSF2 | GM-CSF | CTD_human | 7,875,148 | GM-CSF given subcutaneously at a dose of 5 micrograms/kg daily for ten days was well tolerated, reversed neutropenia rapidly and reduced the number of secondary infections in patients with leishmaniasis. | 0.202747 | <span class="gene" id="7875148-9-0-6">GM-CSF</span> given subcutaneously at a dose of 5 micrograms/kg daily for ten days was well tolerated, reversed <span class="disease" id="7875148-9-105-116">neutropenia</span> rapidly and reduced the number of secondary infections in patients with leishmaniasis. | CTD_human |
2 | 0 | Therapeutic | C0040822 | Tremor | phenotype | tremor | 7200 | TRH | TRH | CTD_human | 103,733 | 20 microgram TRH injected bilaterally into the caudate-putamen, tuberculum olfactorium, nucleus accumbens, amygdala, lateral ventricles, midbrain or cerebral cortex failed to induce any increase in locomotor activity (measured using photocells), although other behavioural changes were observed after each injection, and included body shakes, limb tremor, repetitive head and limb movements, biting, scratching and an alert appearance. | 0.2 | 20 microgram <span class="gene" id="103733-1-13-16">TRH</span> injected bilaterally into the caudate-putamen, tuberculum olfactorium, nucleus accumbens, amygdala, lateral ventricles, midbrain or cerebral cortex failed to induce any increase in locomotor activity (measured using photocells), although other behavioural changes were observed after each injection, and included body <span class="disease" id="103733-1-335-341">shakes</span>, limb <span class="disease" id="103733-1-348-354">tremor</span>, repetitive head and limb movements, biting, scratching and an alert appearance. | CTD_human |
null | null | Negative | MESH:D004314 | null | null | DS | 1859 | null | dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | null | 28,172,997 | Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. | null | null | null |
1 | 0 | Biomarker | C0010068 | Coronary heart disease | disease | CHD | 4524 | MTHFR | MTHFR | CTD_human | 16,792,904 | These results suggested that maternal MTHFR 677TT genotype was one of the risks to the occurrence of CHD in offspring but parents' CBS gene 833 T-->C mutation did not get involved in CHD. | 0.321976 | These results suggested that maternal <span class="gene" id="16792904-5-38-43">MTHFR</span> 677TT genotype was one of the risks to the occurrence of <span class="disease" id="16792904-5-101-104">CHD</span> in offspring but parents' CBS gene 833 T-->C mutation did not get involved in <span class="disease" id="16792904-5-183-186">CHD</span>. | CTD_human |
null | null | Negative | MESH:C535575 | null | null | head and neck squamous cell carcinoma | 171285 | null | TIM3 | null | 28,102,051 | T-cell immunoglobulin mucin 3 (TIM3) contributes to immune suppression during progression of many cancers, but the precise role of TIM3 in head and neck squamous cell carcinoma (HNSCC) is not clearly understood. | null | null | null |
4 | 0 | Biomarker | C0026847 | Spinal Muscular Atrophy | disease | SMA | 6606 | SMN1 | SMN1 | CTD_human | 21,350,916 | Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disease that is a result of a deletion or mutation of the SMN1 (Survival Motor Neuron) gene. | 0.569786 | <span class="disease" id="21350916-1-0-23">Spinal Muscular Atrophy</span> (<span class="disease" id="21350916-1-25-28">SMA</span>) is an autosomal recessive neurodegenerative disease that is a result of a deletion or mutation of the <span class="gene" id="21350916-1-132-136">SMN1</span> (Survival Motor Neuron) gene. | CTD_human;HPO |
1 | 0 | Biomarker | C0008925 | Cleft Palate | disease | cleft palate | 8626 | TP63 | p63 | CTD_human | 11,462,173 | We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. | 0.405364 | We performed <span class="gene" id="11462173-2-13-16">p63</span> mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, <span class="disease" id="11462173-2-263-275">cleft palate</span>, and mammary-gland abnormalities. | CTD_human;HPO |
3 | 0 | Biomarker | C0339527 | Leber Congenital Amaurosis | disease | leber congenital amaurosis | 6121 | RPE65 | RPE65 | CTD_human | 9,501,220 | Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. | 0.417033 | Mutations in the <span class="gene" id="9501220-0-17-22">RPE65</span> gene in patients with autosomal recessive retinitis pigmentosa or <span class="disease" id="9501220-0-89-115">leber congenital amaurosis</span>. | CTD_human;ORPHANET |
4 | 3 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 51752 | ERAP1 | ERAP1 | CTD_human | 23,291,587 | Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Beh?et's disease. | 0.203571 | Three risk loci shared with ankylosing spondylitis and <span class="disease" id="23291587-8-55-64">psoriasis</span> (the MHC class I region, <span class="gene" id="23291587-8-90-95">ERAP1</span> and IL23R and the MHC class I-<span class="gene" id="23291587-8-126-131">ERAP1</span> interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and BehÇet's disease. | CTD_human |
null | null | Negative | MESH:D009362 | null | null | metastasis | 382056 | null | mTORC1 | null | 28,184,024 | AKT activation was linked to mTORC1 and GSK-3b/b-catenin signaling, which are primarily associated with tumor cell growth and metastasis, respectively. | null | null | null |
20 | 0 | Therapeutic | C0037769 | West Syndrome | disease | infantile spasm | 5443 | POMC | ACTH | CTD_human | 6,107,850 | [Lethal side effects from ACTH-therapy in infantile spasm (author's transl)]. | 0.203022 | [Lethal side effects from <span class="gene" id="6107850-0-26-30">ACTH</span>-therapy in <span class="disease" id="6107850-0-42-57">infantile spasm</span> (author's transl)]. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | Liver dysfunction | 11651 | null | Akt | null | 28,188,779 | RESULTS: Liver dysfunction, hepatic pathological injury, infiltration of inflammatory cytokines, and hepatocyte apoptosis were observed after hepatic I/R, accompanied by inhibition of the PI3K-Akt pathway. | null | null | null |
3 | 0 | Biomarker | C0011881 | Diabetic Nephropathy | disease | diabetic nephropathy | 84735 | CNDP1 | CNDP1 | CTD_human | 21,393,041 | Association of variants in the carnosine peptidase 1 gene (CNDP1) with diabetic nephropathy in American Indians. | 0.228187 | Association of variants in the carnosine peptidase 1 gene (<span class="gene" id="21393041-0-59-64">CNDP1</span>) with <span class="disease" id="21393041-0-71-91">diabetic nephropathy</span> in American Indians. | CTD_human |
2 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 3952 | LEP | leptin | CTD_human | 18,515,891 | However, both leptin genotype and smoking were significantly associated with metabolic syndrome. | 0.2991 | However, both <span class="gene" id="18515891-6-14-20">leptin</span> genotype and smoking were significantly associated with <span class="disease" id="18515891-6-77-95">metabolic syndrome</span>. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | diabetic | 21908 | null | T cell leukemia homeobox 1 | null | 28,135,283 | Previously, we reported that T cell leukemia homeobox 1 (Tlx1)+ stem cells in the spleen effectively regenerated into insulin-producing cells in the pancreas of non-obese diabetic mice with end-stage disease. | null | null | null |
null | null | Negative | MESH:D005910 | null | null | glioma | 18208 | null | netrin-1 | null | 28,069,038 | METHODS: Glioma tissue microarrays were stained with immunohistochemistry and the results were used to evaluate the association between netrin-1 and survival of glioma patients. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | toxicity | 282665 | null | ovalbumin | null | 28,160,490 | Acute toxicity and local irritating effect, anaphylactic reactions to different antigens (vaccine and ovalbumin), delayed-type hypersensitivity to ram erythrocytes, humoral immune response in hemaggtination reaction, immunogenic activity was studied in laboratory animals of various species (mice, rats, guinea pigs). | null | null | null |
1 | 0 | Biomarker | C0020615 | Hypoglycemia | disease | hypoglycemia | 3481 | IGF2 | insulin-like growth factor II | CTD_human | 3,185,662 | Synthesis and secretion of insulin-like growth factor II by a leiomyosarcoma with associated hypoglycemia. | 0.204945 | Synthesis and secretion of <span class="gene" id="3185662-0-27-56">insulin-like growth factor II</span> by a leiomyosarcoma with associated <span class="disease" id="3185662-0-93-105">hypoglycemia</span>. | CTD_human |
21 | 1 | Biomarker | C0025202 | melanoma | disease | melanoma | 673 | BRAF | BRAF | CTD_human | 23,432,625 | Current clinical investigations have shown great promise with the combination of trametinib and dabrafenib in patients with BRAF-mutant melanoma; a number of clinical trials of trametinib in combination with other targeted drugs are underway. | 0.391291 | Current clinical investigations have shown great promise with the combination of trametinib and dabrafenib in patients with <span class="gene" id="23432625-9-124-128">BRAF</span>-mutant <span class="disease" id="23432625-9-136-144">melanoma</span>; a number of clinical trials of trametinib in combination with other targeted drugs are underway. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 20779 | null | Src | null | 28,023,117 | Recently, in vitro and bone metastasis enrichment mouse models have identified a number of factors including Src that induce breast cancer metastasis to bones. | null | null | null |
null | null | Negative | MESH:C538265 | null | null | attenuated astrogliosis | 11820;19164 | null | APP/PS1 | null | 28,105,015 | Highlights: (1) Blockade of KCa3.1 in APP/PS1 transgenic mice attenuated astrogliosis and neuron loss, and an attenuation of memory deficits. | null | null | null |
2 | 1 | Biomarker | C1855627 | HAIM-MUNK SYNDROME | disease | Haim-Munk syndrome | 1075 | CTSC | cathepsin C | CTD_human | 10,662,807 | Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. | 0.601374 | <span class="disease" id="10662807-0-0-18">Haim-Munk syndrome</span> and Papillon-Lefèvre syndrome are allelic mutations in <span class="gene" id="10662807-0-74-85">cathepsin C</span>. | CTD_human;ORPHANET;UNIPROT |
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