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1
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1.07k
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3 values
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8
12
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587 values
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1 value
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104k
28.2M
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39
1.09k
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0.2
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143
948
source
stringclasses
9 values
1
0
Biomarker
C0079744
Diffuse Large B-Cell Lymphoma
disease
DLBCL
5291
PIK3CB
PI3K
CTD_human
21,173,233
These results demonstrate a critical function of PI3K-PDK1 signaling upstream of MALT1 protease and NF-?B in distinct ABC DLBCL cells and provide a rationale for the pharmacologic use of PI3K inhibitors in DLBCL therapy.
0.204121
These results demonstrate a critical function of <span class="gene" id="21173233-6-49-53">PI3K</span>-PDK1 signaling upstream of MALT1 protease and NF-&kappa;B in distinct ABC DLBCL cells and provide a rationale for the pharmacologic use of <span class="gene" id="21173233-6-187-191">PI3K</span> inhibitors in <span class="disease" id="21173233-6-206-211">DLBCL</span> therapy.
CTD_human
null
null
Negative
MESH:D013274
null
null
GC
439990
null
LINC00857
null
28,042,329
As a result, we identified five novel plasma lncRNAs (TINCR, CCAT2, AOC4P, BANCR and LINC00857), which, when combined in the lncRNA-based Index I, outperformed the CEA-based Index II (P < 0.001) and could distinguish GC patients from healthy controls with an area under the receiver-operating curve (AUC) of 0.91 (95% confidence interval (CI): 0.88-0.95).
null
null
null
null
null
Negative
MESH:D003092
null
null
colitis
81897
null
toll-like receptor 9
null
28,191,009
Treatment with toll-like receptor 9 ligand CpG2216 significantly enhanced colitis in p47phox-/- mice, whereas tumor growth was simultaneously reduced.
null
null
null
null
null
Negative
MESH:D017827
null
null
wild type
14768
null
LanCL1
null
28,106,097
Very similar concentrations of LK (0.5-2.5 nmol/g tissue) were found in LanCL1 knock-out, TKO and wild type (WT) mouse brains, suggesting that LanCL proteins are not involved in lanthionine biosynthesis.
null
null
null
null
null
Negative
MESH:D009336
null
null
necrosis
22035
null
TRAIL
null
28,135,339
The tumor necrosis factor-related apoptosis inducing ligand (TRAIL) has been shown to induce apoptosis in a range of tumor cell types.
null
null
null
1
0
Therapeutic
C0574960
Sacroiliitis
disease
sacroiliitis
5443
POMC
ACTH
CTD_human
19,533,139
We report a case of acute sacroiliitis with severe disability after only 3 weeks of isotretinoin therapy with graduate reduction of pain, limitation and muscle incompetence after discontinuation of the drug and ACTH-depo injection and Ethodolac therapy.
0.2
We report a case of acute <span class="disease" id="19533139-1-26-38">sacroiliitis</span> with severe disability after only 3 weeks of isotretinoin therapy with graduate reduction of pain, limitation and muscle incompetence after discontinuation of the drug and <span class="gene" id="19533139-1-211-215">ACTH</span>-depo injection and Ethodolac therapy.
CTD_human
null
null
Negative
MESH:D013313
null
null
PTSD
382056
null
mTORC1
null
28,043,916
These results support the hypothesis that ketamine produces long-lasting mTORC1/protein synthesis and activity dependent effects on neuronal circuits that enhance the expression of extinction and could represent a novel approach for the treatment of PTSD.
null
null
null
2
0
Biomarker
C0036341
Schizophrenia
disease
schizophrenia
27185
DISC1
DISC1
CTD_human
20,531,374
Association of Disrupted in Schizophrenia 1 (DISC1) missense variants with ultra-resistant schizophrenia.
0.463891
Association of <span class="gene" id="20531374-0-15-43">Disrupted in Schizophrenia 1</span> (<span class="gene" id="20531374-0-45-50">DISC1</span>) missense variants with ultra-resistant <span class="disease" id="20531374-0-91-104">schizophrenia</span>.
CTD_human
null
null
Negative
MESH:D017827
null
null
WT
1432
null
p38
null
28,155,010
Western blot results showed that pIONL induced p38 but not JNK activation in the TG of WT mice.
null
null
null
null
null
Negative
MESH:D009101
null
null
multiple myeloma
6962
null
TCR
null
28,053,195
TCR-transduced T cells efficiently lysed primary B-cell leukemia, mantle cell lymphoma, and multiple myeloma in vitro.
null
null
null
1
0
Biomarker
C0039494
Temporomandibular Joint Disorders
group
TMD
1312
COMT
COMT
CTD_human
25,218,601
Results show that the COMT rs4680 (val(158)met) polymorphism is most strongly associated with outcome measures, such that individuals with the minor A allele (met) exhibit reduced COMT activity, increased TMD risk, and increased musculoskeletal pain.
0.207561
Results show that the <span class="gene" id="25218601-3-22-26">COMT</span> rs4680 (val(158)met) polymorphism is most strongly associated with outcome measures, such that individuals with the minor A allele (met) exhibit reduced <span class="gene" id="25218601-3-180-184">COMT</span> activity, increased <span class="disease" id="25218601-3-205-208">TMD</span> risk, and increased musculoskeletal pain.
CTD_human
null
null
Negative
MESH:D030342
null
null
autosomal dominant disorder
6926
null
TBX3
null
28,145,909
UNASSIGNED: Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency.
null
null
null
null
null
Negative
MESH:D007951
null
null
myeloid differentiation protein 2
21898
null
Toll-like receptor 4
null
28,145,460
UNASSIGNED: Targeting myeloid differentiation protein 2 (MD-2) or Toll-like receptor 4 (TLR4) with small molecule inhibitor rescues the systemic inflammatory response syndrome (SIRS) in sepsis due to infection with Gram-negative bacteria but not other microbes.
null
null
null
1
0
Biomarker
C0038220
Status Epilepticus
disease
SE
3315
HSPB1
Hsp25
CTD_human
20,971,094
Interestingly, while Hsp32 and Hsp70 expression was transient, Hsp25 demonstrated a sustained induction pattern, which may reflect an additional role of Hsp25 in subsequent remodeling events in the days following SE.
0.2
Interestingly, while Hsp32 and Hsp70 expression was transient, <span class="gene" id="20971094-5-63-68">Hsp25</span> demonstrated a sustained induction pattern, which may reflect an additional role of <span class="gene" id="20971094-5-153-158">Hsp25</span> in subsequent remodeling events in the days following <span class="disease" id="20971094-5-213-215">SE</span>.
CTD_human
null
null
Negative
MESH:D055752
null
null
SCLC
6317
null
SCC
null
28,022,171
RESULTS: p characteristics: 51 males; median age, 59; 33 smokers, 26 ex-smokers; 49 adenocarcinoma, 10 large cell carcinoma (LCC), 18 squamous cell carcinoma (SCC), 8 SCLC.
null
null
null
null
null
Negative
OMIM:132100
null
null
photoparoxysmal EEG response
100528023
null
PPR
null
28,042,998
OBJECTIVE: To detect determinants for photoparoxysmal EEG response (PPR) in SCN1A-related Dravet syndrome (DS).
null
null
null
3
0
Biomarker
C0017638
Glioma
disease
gliomas
90
ACVR1
ACVR1
CTD_human
24,705,254
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
0.200275
Genomic analysis of diffuse intrinsic pontine <span class="disease" id="24705254-0-46-53">gliomas</span> identifies three molecular subgroups and recurrent activating <span class="gene" id="24705254-0-116-121">ACVR1</span> mutations.
CTD_human
1
0
Biomarker
C0025202
melanoma
disease
melanoma
79852
EPHX3
ABHD9
CTD_human
16,778,180
CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.
0.2
CGIs in putative promoter regions of 34 genes (<span class="gene" id="16778180-3-47-52">ABHD9</span>, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 <span class="disease" id="16778180-3-352-360">melanoma</span> cell lines but not in two cultured normal melanocytes.
CTD_human
null
null
Negative
MESH:D064146
null
null
CT
1956
null
EGFR
null
28,020,286
Pre-operative CT also provides a unique opportunity to identify tumour markers predictive of response to CT and anti-EGFR therapy.
null
null
null
1
0
Biomarker
C0019163
Hepatitis B
disease
hepatitis B
1548
CYP2A6
CYP2A6
CTD_human
8,864,187
In sections of liver infected with hepatitis B virus (HBV) or hepatitis C virus (HCV), the expression of CYP2A6 was markedly increased in hepatocytes immediately adjacent to areas of fibrosis and inflammation.
0.2
In sections of liver infected with <span class="disease" id="8864187-4-35-46">hepatitis B</span> virus (HBV) or hepatitis C virus (HCV), the expression of <span class="gene" id="8864187-4-105-111">CYP2A6</span> was markedly increased in hepatocytes immediately adjacent to areas of fibrosis and inflammation.
CTD_human
null
null
Negative
MESH:C535607
null
null
AGS
8743
null
TRAIL
null
28,032,027
Knock-down of VCP by siRNA enhanced sensitivity to TRAIL in AGS cells.
null
null
null
null
null
Negative
MESH:C566610
null
null
axis
7329
null
UBC9
null
28,143,738
These findings suggest that the UBC9/PML/RNF4 axis plays a critical role as an important SUMO pathway in cardiac fibrosis.
null
null
null
null
null
Negative
MESH:D000690
null
null
amyotrophic lateral sclerosis
362965
null
RanGap1
null
28,029,704
Double immunofluorescent analyses revealed nuclear retention and apparent colocalization of RanGap1 with Nup205, Gp210 with Nup205, and partial colocalization of Nup205 with Nup107; most of the ischemic changes above were similar to those observed in patients with C9orf72-genetic amyotrophic lateral sclerosis.
null
null
null
4
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
59272
ACE2
ACE2
CTD_human
17,473,847
We conclude that the ACE2 T allele confers a high risk for hypertension and reduced antihypertensive response to ACE inhibitors.
0.318481
We conclude that the <span class="gene" id="17473847-6-21-25">ACE2</span> T allele confers a high risk for <span class="disease" id="17473847-6-59-71">hypertension</span> and reduced antihypertensive response to ACE inhibitors.
CTD_human
null
null
Negative
MESH:D009336
null
null
necrosis
16193
null
IL-6
null
28,031,106
Concentrations of interleukin (IL)-10, IL-6, IL-1b and tumor necrosis factor (TNF)-a in sera were measured by ELISA.
null
null
null
17
0
Biomarker
C0020429
Hyperalgesia
phenotype
hyperalgesia
3827
KNG1
bradykinin
CTD_human
16,259,764
In addition, the ME of B. microstachya (3--300 mg kg(-1), i.p., 30 min earlier) inhibited, in a graded manner, the hyperalgesia induced by bradykinin (3.2 microg/paw), substance P (13.5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20.5, 17.9, 101.8, 54.2 and 99.7 mg kg(-1), respectively.
0.280824
In addition, the ME of B. microstachya (3--300 mg kg(-1), i.p., 30 min earlier) inhibited, in a graded manner, the <span class="disease" id="16259764-5-115-127">hyperalgesia</span> induced by <span class="gene" id="16259764-5-139-149">bradykinin</span> (3.2 microg/paw), substance P (13.5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20.5, 17.9, 101.8, 54.2 and 99.7 mg kg(-1), respectively.
CTD_human
1
0
Biomarker
C0036202
Sarcoidosis
disease
sarcoidosis
3123
HLA-DRB1
HLA-DRB1
CTD_human
14,508,706
HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites.
0.472692
<span class="gene" id="14508706-0-0-8">HLA-DRB1</span>*1101: a significant risk factor for <span class="disease" id="14508706-0-45-56">sarcoidosis</span> in blacks and whites.
CTD_human;ORPHANET
null
null
Negative
MESH:C535468
null
null
Copper deficiency
1356
null
ceruloplasmin
null
28,118,841
Copper deficiency, which leads to a defect in ceruloplasmin enzymatic activity, has a strong effect on iron homeostasis resulting in cellular iron retention.
null
null
null
69
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
183
AGT
angiotensin II
CTD_human
17,989,111
Purinergic receptors contribute to early mesangial cell transformation and renal vessel hypertrophy during angiotensin II-induced hypertension.
0.52
Purinergic receptors contribute to early mesangial cell transformation and renal vessel hypertrophy during <span class="gene" id="17989111-0-107-121">angiotensin II</span>-induced <span class="disease" id="17989111-0-130-142">hypertension</span>.
CTD_human
null
null
Negative
MESH:D002575
null
null
CSM
729
null
C2-7
null
28,168,336
CONCLUSIONS: Cervical alignment was compromised after laminoplasty in patients with CSM, and the degree of LCL was associated with preoperative T1 slope, C2-7 SVA, and CVLL.
null
null
null
null
null
Negative
MESH:D007896
null
null
leishmaniasis
16176
null
IL-1b
null
28,192,528
Using murine models of inflammation induced by the protozoan parasite leishmania, and data obtained from patients with cutaneous leishmaniasis, we uncovered a previously unrecognized role for NLRP3 inflammasome activation and IL-1b release as a detrimental consequence of CD8+ T cell-mediated cytotoxicity, ultimately resulting in chronic inflammation.
null
null
null
null
null
Negative
MESH:D011225
null
null
pre-eclampsia
22095
null
PET
null
28,113,071
OBJECTIVE: To determine whether fetuses in severe early onset pre-eclampsia (EO-PET) with or without intrauterine growth restriction has cardiac dysfunction across deteriorating stages of placental vascular resistance and whether this dysfunction influences perinatal outcome.
null
null
null
1
0
Biomarker
C0010346
Crohn Disease
disease
CD
151306
GPBAR1
TGR5
CTD_human
23,566,200
Among LPMCs, isolated CD14(+) intestinal M?s from patients with CD expressed TGR5.
0.2
Among LPMCs, isolated CD14(+) intestinal M?s from patients with <span class="disease" id="23566200-10-64-66">CD</span> expressed <span class="gene" id="23566200-10-77-81">TGR5</span>.
CTD_human
1
0
Therapeutic
C0027051
Myocardial Infarction
disease
MI
3816
KLK1
tissue kallikrein
CTD_human
12,411,458
Rats were subjected to coronary artery ligation to induce MI, and adenovirus carrying the human tissue kallikrein or luciferase gene was injected into the tail vein at 1 week after surgery.
0.201374
Rats were subjected to coronary artery ligation to induce <span class="disease" id="12411458-2-58-60">MI</span>, and adenovirus carrying the human <span class="gene" id="12411458-2-96-113">tissue kallikrein</span> or luciferase gene was injected into the tail vein at 1 week after surgery.
CTD_human
6
0
Therapeutic
C0019243
Angioedemas, Hereditary
disease
HAE
710
SERPING1
C1-INH
CTD_human
23,406,939
C1-INH replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of hereditary angioedema (HAE), a more common related disorder.
0.247499
<span class="gene" id="23406939-2-0-6">C1-INH</span> replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of <span class="disease" id="23406939-2-122-143">hereditary angioedema</span> (<span class="disease" id="23406939-2-145-148">HAE</span>), a more common related disorder.
CTD_human
null
null
Negative
MESH:D015458
null
null
splenic T
66889
null
GRAIL
null
28,114,324
CD4 T cell proliferation was assessed by CFSE staining, and the expression of GRAIL in splenic T cells was measured by real-time PCR, flow cytometry and Western blot.
null
null
null
null
null
Negative
MESH:D009362
null
null
metastasis
644914
null
p21
null
28,014,849
UNASSIGNED: 3109 Background: The ubiquitinin-proteosome proteolytic pathway regulates the metabolism of critical proteins involved in the cell cycle, apoptosis and metastasis such as p53, p21, p27 and NFkB.
null
null
null
null
null
Negative
MESH:C580335
null
null
NM
3460
null
AF 1
null
28,067,364
In particular, it has been proposed that the phase is actually composed of two phases, a low-pressure AF 1 phase and a higher pressure NM 0 phase [Crespo et al., Proc.
null
null
null
1
0
Biomarker
C0017638
Glioma
disease
glioma
7124
TNF
TNF-?
CTD_human
22,199,285
Resveratrol reduces TNF-?-induced U373MG human glioma cell invasion through regulating NF-?B activation and uPA/uPAR expression.
0.22059
Resveratrol reduces <span class="gene" id="22199285-0-20-25">TNF-&alpha;</span>-induced U373MG human <span class="disease" id="22199285-0-47-53">glioma</span> cell invasion through regulating NF-&kappa;B activation and uPA/uPAR expression.
CTD_human
3
0
Therapeutic
C0012739
Disseminated Intravascular Coagulation
disease
DIC
462
SERPINC1
antithrombin III
CTD_human
9,637,888
He was then given heparin and antithrombin III, and his DIC symptoms improved soon thereafter.
0.200824
He was then given heparin and <span class="gene" id="9637888-3-30-46">antithrombin III</span>, and his <span class="disease" id="9637888-3-56-59">DIC</span> symptoms improved soon thereafter.
CTD_human
null
null
Negative
MESH:C536751
null
null
WT
24068
null
SR-A1
null
28,193,223
METHODS: To test this hypothesis, C57BL/6 WT and SR-A1 KO mice were nasally instilled with 50 g/mL of SPD-MAA for 3 weeks (wks).
null
null
null
null
null
Negative
MESH:C563010
null
null
neutrophilia
644914
null
p21
null
28,020,562
CONCLUSIONS: Our experience suggests the utility of de HIF1a, CAIX, PTEN, p21, thrombocytosis and neutrophilia as prognostic factors in patients with advanced RCC.
null
null
null
null
null
Negative
MESH:D003920
null
null
diabetes mellitus
24185
null
Akt
null
28,142,314
CONTEXT: Metformin attenuates type-2 diabetes mellitus (T2DM)-induced hepatic dysfunction and altered PI3K/Akt/GLUT-4 signalling in experimental studies.
null
null
null
1
0
Biomarker
C0009324
Ulcerative Colitis
disease
ulcerative colitis
64127
NOD2
NOD2
CTD_human
20,452,301
The present study was aimed at describing expression of innate immunity genes (NOD2, RIP2, ?-defensins HD5 and HD6) in inflamed colon and in ileum of children with ulcerative colitis.
0.315643
The present study was aimed at describing expression of innate immunity genes (<span class="gene" id="20452301-2-79-83">NOD2</span>, RIP2, &alpha;-defensins HD5 and HD6) in inflamed colon and in ileum of children with <span class="disease" id="20452301-2-164-182">ulcerative colitis</span>.
CTD_human
null
null
Negative
MESH:C535575
null
null
head and neck squamous cell carcinoma
20848
null
STAT3
null
28,138,036
Signal transducer and activator of transcription 3 (STAT3) is involved in the tumor growth and metastasis of human head and neck squamous cell carcinoma (HNSCC) and is therefore a target with therapeutic potential.
null
null
null
null
null
Negative
MESH:D008080
null
null
LPS
406937
null
miR-145
null
28,036,291
Here, we evaluated miR-155, miR-21, miR-143, miR-145 and miR-451 that are implicated in LPS, as novel FFPE tissue biomarkers.A total of 83 FFPE tissue specimens from primary LPS and lipomas (LPM) were analyzed.
null
null
null
1
0
Biomarker
C0014549
Tonic-Clonic Epilepsy
disease
tonic-clonic convulsions
627
BDNF
BDNF
CTD_human
16,023,256
At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.
0.2
At 4 h following pilocarpine-induced seizures, expression of NGF, <span class="gene" id="16023256-5-66-70">BDNF</span>, HB-EGF, and FGF-2 increased only in the mice manifesting <span class="disease" id="16023256-5-129-153">tonic-clonic convulsions</span> and not in mice without seizures.
CTD_human
null
null
Negative
MESH:D011502
null
null
energy balance dysregulation
57084
null
vesicular glutamate transporter 2
null
28,077,715
Here, we used neuroanatomical tracing, immunofluorescence, and confocal imaging to demonstrate that virtually all NTS > lPBN and lPBN > CeA CGRP projections coexpress vesicular glutamate transporter 2 (VGLUT2), providing evidence that excitatory projections mediate cisplatin-induced energy balance dysregulation.
null
null
null
null
null
Negative
MESH:D004342
null
null
delayed type hypersensitivity
13866
null
HER-2
null
28,022,330
A secondary outcome was delayed type hypersensitivity (DTH) to the MHC Class II HER-2 epitopes p369 and p776.
null
null
null
null
null
Negative
MESH:D064420
null
null
cytotoxicity
16176
null
IL-1b
null
28,192,528
Using murine models of inflammation induced by the protozoan parasite leishmania, and data obtained from patients with cutaneous leishmaniasis, we uncovered a previously unrecognized role for NLRP3 inflammasome activation and IL-1b release as a detrimental consequence of CD8+ T cell-mediated cytotoxicity, ultimately resulting in chronic inflammation.
null
null
null
null
null
Negative
MESH:D020295
null
null
Stemness
4072
null
EpCAM
null
28,114,366
Stemness features of tumoral hepatocytes (EpCAM, K19, Oct3/4, c-KIT, c-MET, and CD133), and tumor stromal cells expressing a-smooth muscle actin (a-SMA), CD68, CD163, and IL-6 were analyzed in 36 low grade dysplastic nodules (DNs), 48 high grade DNs, 30 early HCCs (eHCCs), and 51 progressed HCCs (pHCCs) by immunohistochemistry or real-time PCR.
null
null
null
null
null
Negative
MESH:D006528
null
null
HCC
14711
null
Glycine N-methyltransferase
null
28,205,209
Glycine N-methyltransferase (GNMT) is downregulated in almost all HCC and its gene knockout mice developed HCC with high penetrance.
null
null
null
null
null
Negative
MESH:D005910
null
null
glioma
100886964
null
PTCSC3
null
28,187,755
However, the biological function and molecular mechanism of lncRNA PTCSC3 in glioma are still unknown.
null
null
null
null
null
Negative
MESH:D012640
null
null
seizures
24772
null
SDF-1
null
28,104,461
We examined whether the enhanced neurogenesis and improved cognitive functions induced by EE following seizures were mediated by SDF-1/CXCR4 pathway.
null
null
null
null
null
Negative
MESH:C562390
null
null
aqueous humor
24835
null
TNF-a
null
28,112,125
The serum and aqueous humor (AH) TNF-a, interleukin (IL)-6, and IL-10 levels were measured by ELISA at 4, 24, and 72 h post-LPS injection.
null
null
null
1
0
Biomarker
C0004352
Autistic Disorder
disease
autistic
3569
IL6
IL-6
CTD_human
8,964,908
Since autoimmune response involves immune activation, the plasma levels of interferon-alpha (IFN-alpha), interferon-gamma (IFN-gamma), interleukin-12 (IL-12), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), and soluble intercellular adhesion molecule-1 (sICAM-1) were measured in autistic patients and age-matched normal controls.
0.200549
Since autoimmune response involves immune activation, the plasma levels of interferon-alpha (IFN-alpha), interferon-gamma (IFN-gamma), interleukin-12 (IL-12), <span class="gene" id="8964908-2-159-172">interleukin-6</span> (<span class="gene" id="8964908-2-174-178">IL-6</span>), tumor necrosis factor-alpha (TNF-alpha), and soluble intercellular adhesion molecule-1 (sICAM-1) were measured in <span class="disease" id="8964908-2-295-303">autistic</span> patients and age-matched normal controls.
CTD_human
1
0
Biomarker
C0004096
Asthma
disease
airway hyperreactivity
4843
NOS2
NOS2
CTD_human
19,800,904
We found that administration of nor-NOHA significantly decreased airway hyperreactivity and eosinophilic airway inflammation in ovalbumin-exposed C57BL/6 mice, but these parameters were unchanged in ovalbumin-exposed NOS2-/- mice.
0.230766
We found that administration of nor-NOHA significantly decreased <span class="disease" id="19800904-5-65-87">airway hyperreactivity</span> and eosinophilic airway inflammation in ovalbumin-exposed C57BL/6 mice, but these parameters were unchanged in ovalbumin-exposed <span class="gene" id="19800904-5-217-221">NOS2</span>-/- mice.
CTD_human
null
null
Negative
MESH:C563010
null
null
neutrophilia
23476
null
BRD4
null
28,077,651
We also find that BRD4 independently regulates CDK9/phospho-Ser 2 CTD RNA Pol II recruitment to the IRF3-dependent IFN-stimulated genes (ISGs).<i>In vivo</i>, poly(I C)-induced neutrophilia and mucosal chemokine production are blocked by a small-molecule BRD4 bromodomain inhibitor.
null
null
null
5
0
Biomarker
C0919267
ovarian neoplasm
disease
ovarian tumours
672
BRCA1
BRCA1
CTD_human
7,795,652
Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.
0.382528
Somatic mutations in the <span class="gene" id="7795652-0-25-30">BRCA1</span> gene in sporadic <span class="disease" id="7795652-0-48-63">ovarian tumours</span>.
CTD_human
2
0
Therapeutic
C0040822
Tremor
phenotype
tremor
7200
TRH
TRH
CTD_human
416,961
Similarly, of these peptides only TRH and MK-771 induced a tremor of the forepaws in pentobarbital-anesthetized mice.
0.2
Similarly, of these peptides only <span class="gene" id="416961-3-34-37">TRH</span> and MK-771 induced a <span class="disease" id="416961-3-59-65">tremor</span> of the forepaws in pentobarbital-anesthetized mice.
CTD_human
6
4
Biomarker
C0010346
Crohn Disease
disease
Crohn's disease
64127
NOD2
CARD15
CTD_human
18,371,140
NOD2/CARD15 gene variants are linked to failure of antibiotic treatment in perianal fistulating Crohn's disease.
0.52
<span class="gene" id="18371140-0-0-4">NOD2</span>/<span class="gene" id="18371140-0-5-11">CARD15</span> gene variants are linked to failure of antibiotic treatment in perianal fistulating <span class="disease" id="18371140-0-96-111">Crohn's disease</span>.
CTD_human
1
0
Biomarker
C0014556
Epilepsy, Temporal Lobe
disease
TLE
2914
GRM4
mGluR4
CTD_human
15,694,259
Here, we examine the transcription levels of mGluRs class I (mGluR1 and 5) and III (mGluR4 and 7) in experimental TLE and correlate differential mGluR subunit expression with mouse-strain-dependent susceptibility to TLE induced by pilocarpine.
0.2
Here, we examine the transcription levels of mGluRs class I (mGluR1 and 5) and III (<span class="gene" id="15694259-6-84-90">mGluR4</span> and 7) in experimental <span class="disease" id="15694259-6-114-117">TLE</span> and correlate differential mGluR subunit expression with mouse-strain-dependent susceptibility to <span class="disease" id="15694259-6-216-219">TLE</span> induced by pilocarpine.
CTD_human
null
null
Negative
MESH:D004194
null
null
early disease
2026
null
neuron-specific enolase
null
28,127,669
In all patients, early disease stage, good ECOG, normal neuron-specific enolase (NSE), thoracic radiotherapy, >= 4 cycles of chemotherapy, prophylactic cranial irradiation, good response to initial therapy were independent favorable prognostic factors for OS, along with gender, age, CEA and CA125.
null
null
null
null
null
Negative
MESH:D002292
null
null
RCC tumor
20344
null
P-selectin
null
28,104,442
Pharmacologic inhibition or knockdown of endothelial P-selectin blocks EP4-mediated cancer cell TEM, and inhibition of P-selectin prevents RCC tumor intravasation in CAM assay.
null
null
null
1
0
Biomarker
C0022661
Kidney Failure, Chronic
disease
CRF
1374
CPT1A
CPT1A
CTD_human
19,878,707
CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.
0.200275
<span class="disease" id="19878707-5-0-3">CRF</span> resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and <span class="gene" id="19878707-5-518-523">CPT1A</span>.
CTD_human
2
0
Biomarker
C0004903
Beckwith-Wiedemann Syndrome
disease
Beckwith-Wiedemann syndrome
3481
IGF2
insulin-like growth factor 2
CTD_human
8,252,039
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
0.222737
Disruption of <span class="gene" id="8252039-0-14-42">insulin-like growth factor 2</span> imprinting in <span class="disease" id="8252039-0-57-84">Beckwith-Wiedemann syndrome</span>.
CTD_human
null
null
Negative
MESH:D003920
null
null
diabetic
22339
null
VEGF
null
28,091,556
However, the contribution and mechanism of VEGF-B in diabetic peripheral neuropathy remains unclear.
null
null
null
1
0
Biomarker
C0027794
Neural Tube Defects
group
NTD
635
BHMT
BHMT
CTD_human
17,035,141
In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase.
0.202956
In 304 Caucasian American <span class="disease" id="17035141-4-26-29">NTD</span> families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, <span class="gene" id="17035141-4-465-503">betaine-homocysteine methyltransferase</span> (<span class="gene" id="17035141-4-505-509">BHMT</span>), and cystathionine-beta-synthase.
CTD_human
null
null
Negative
MESH:D009136
null
null
muscular dystrophy
26092
null
TOR1AIP1
null
28,110,863
A recently identified muscular dystrophy gene TOR1AIP1 was detected as a hub gene in dysferlinopathy.
null
null
null
null
null
Negative
MESH:C564145
null
null
HBD-2
7124
null
tumor necrosis factor
null
28,147,379
Concentrations of pro- and anti-inflammatory mediators (interleukin [IL]-1b, IL-6, tumor necrosis factor [TNF]-a, IL-10, and TGF-b), chemokines (IL-8 and GCP-2), and human b-defensins (HBD-1, HBD-2, and HBD-3) were measured in the culture supernatants.
null
null
null
null
null
Negative
MESH:D053448
null
null
prostate specific antigen
26872
null
STEAP1
null
28,023,416
UNASSIGNED: 4535 Background: CV9103 is a prostate cancer (PCA) vaccine that contains the four antigens PSA (prostate specific antigen), PSCA, PSMA and STEAP1 as self-adjuvanted full-length mRNAs.
null
null
null
null
null
Negative
MESH:D001919
null
null
bradycardia
28938
null
l-1
null
28,067,629
There was a varying extent of bradycardia and ventricular contractile impairment with different anesthetic drugs and doses, with tricaine 0.75 mmol l-1 having a relatively more favorable profile.
null
null
null
4
0
Biomarker
C0003469
Anxiety Disorders
group
anxiety
135
ADORA2A
adenosine A2A receptor
CTD_human
16,118,787
Interindividual variation in anxiety response to amphetamine: possible role for adenosine A2A receptor gene variants.
0.205154
Interindividual variation in <span class="disease" id="16118787-0-29-36">anxiety</span> response to amphetamine: possible role for <span class="gene" id="16118787-0-80-102">adenosine A2A receptor</span> gene variants.
CTD_human
1
0
Biomarker
C0025202
melanoma
disease
melanoma
26507
CNNM1
CNNM1
CTD_human
16,778,180
CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.
0.2
CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, <span class="gene" id="16778180-3-69-74">CNNM1</span>, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 <span class="disease" id="16778180-3-352-360">melanoma</span> cell lines but not in two cultured normal melanocytes.
CTD_human
null
null
Negative
MESH:D001008
null
null
anxiety
314322
null
c-Fos
null
28,049,558
Relative to RHA rats, RLA rats exhibit enhanced anxiety/fearfulness, augmented hippocampal/amygdala c-Fos expression following exposure to novelty/conflict, increased hippocampal neuronal density and higher endocrine responses to stress.
null
null
null
null
null
Negative
MESH:D001943
null
null
MBC
13866
null
HER-2
null
28,022,330
Here, we test the hypothesis that CY-modulated vaccination with weekly Trastuzumab (T) can induce clinically-relevant HER-2-specific immunity in HER-2+ MBC patients.
null
null
null
null
null
Negative
MESH:D003240
null
null
connective tissue disorder
1281
null
COL3A1
null
28,183,226
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene.
null
null
null
1
0
Biomarker
C0038356
Stomach Neoplasms
group
gastric tumors
116135
LRRC3B
LRRC3B
CTD_human
18,757,430
Pyrosequencing analysis of the promoter region revealed that LRRC3B was significantly hypermethylated in gastric tumors.
0.203008
Pyrosequencing analysis of the promoter region revealed that <span class="gene" id="18757430-5-61-67">LRRC3B</span> was significantly hypermethylated in <span class="disease" id="18757430-5-105-119">gastric tumors</span>.
CTD_human
null
null
Negative
MESH:D009369
null
null
cancer
3438
null
IFN-a
null
28,022,317
METHODS: Patients with renal cancer and requiring first-line treatment for metastatic disease were randomized 1:1 to receive MVA-5T4 or placebo alongside Sunitinib, IL-2 or IFN-a in a multi-centre phase III trial.
null
null
null
69
0
Therapeutic
C0020538
Hypertensive disease
group
hypertension
183
AGT
angiotensin II
CTD_human
18,420,994
Administration of resveratrol suppressed AT1R expression in the mouse aorta and blunted angiotensin II-induced hypertension.
0.52
Administration of resveratrol suppressed AT1R expression in the mouse aorta and blunted <span class="gene" id="18420994-9-88-102">angiotensin II</span>-induced <span class="disease" id="18420994-9-111-123">hypertension</span>.
CTD_human
3
0
Biomarker
C0220633
Uveal melanoma
disease
uveal melanoma
2767
GNA11
GNA11
CTD_human
22,733,540
Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner.
0.408242
Combination small molecule MEK and PI3K inhibition enhances <span class="disease" id="22733540-0-60-74">uveal melanoma</span> cell death in a mutant GNAQ- and <span class="gene" id="22733540-0-108-113">GNA11</span>-dependent manner.
CTD_human;ORPHANET
null
null
Negative
MESH:D056486
null
null
liver injury
68585
null
Nogo-B
null
28,090,670
Liver specimens from wild-type (WT) and Nogo-B knockout (KO) mice fed a control or Lieber-DeCarli ethanol liquid diet (5% ethanol) for 6 weeks were analyzed for liver injury and steatosis.
null
null
null
null
null
Negative
MESH:D014552
null
null
UTI
54113
null
VUR
null
28,087,926
The risk of renal scarring is highest in children under 1 year of age with febrile UTI and high-grade vesicoureteral reflux (VUR).
null
null
null
null
null
Negative
MESH:D012640
null
null
CRF
46
null
ACLS
null
28,009,533
Cardiovascular disease risk was determined using published age- and sex-adjusted values for low, moderate, and high CRF from the Aerobics Center Longitudinal Study (ACLS).
null
null
null
1
0
Biomarker
C0004096
Asthma
disease
asthma
632
BGLAP
osteocalcin
CTD_human
8,429,434
Effects on bone formation were difficult to assess because asthma per se caused a significant reduction in osteocalcin, a sensitive marker of bone formation.
0.2
Effects on bone formation were difficult to assess because <span class="disease" id="8429434-11-59-65">asthma</span> per se caused a significant reduction in <span class="gene" id="8429434-11-107-118">osteocalcin</span>, a sensitive marker of bone formation.
CTD_human
96
174
Biomarker
C0019202
Hepatolenticular Degeneration
disease
Wilson disease
540
ATP7B
Atp7b
CTD_human
14,574,444
The Long-Evans cinnamon (LEC) rat, an authentic model for Wilson disease, is characterized by a mutation in the Atp7b gene leading to a defective copper excretion and, as a consequence, to an accumulation of the metal in the liver and copper-associated hepatotoxicity.
0.885769
The Long-Evans cinnamon (LEC) rat, an authentic model for <span class="disease" id="14574444-1-58-72">Wilson disease</span>, is characterized by a mutation in the <span class="gene" id="14574444-1-112-117">Atp7b</span> gene leading to a defective copper excretion and, as a consequence, to an accumulation of the metal in the liver and copper-associated hepatotoxicity.
CTD_human;ORPHANET;UNIPROT
96
174
Biomarker
C0019202
Hepatolenticular Degeneration
disease
WD
540
ATP7B
ATP7B
CTD_human
22,677,543
In 78 selected patients of the cohort with two mutations in ATP7B, we have examined genotype-phenotype correlation between the detected changes in Atox1 and COMMD1 genes, and the presentation of the WD patients.
0.885769
In 78 selected patients of the cohort with two mutations in <span class="gene" id="22677543-9-60-65">ATP7B</span>, we have examined genotype-phenotype correlation between the detected changes in Atox1 and COMMD1 genes, and the presentation of the <span class="disease" id="22677543-9-199-201">WD</span> patients.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D017674
null
null
Hypophosphatemia
64654
null
fibroblast growth factor 23
null
28,005,411
Hypophosphatemia in ARHR results from increased circulating levels of the phosphaturic hormone, fibroblast growth factor 23 (FGF23).
null
null
null
null
null
Negative
MESH:D009369
null
null
tumor
21926
null
TNF
null
28,013,186
RESULTS: Treatment with PT or PO inhibited the secretion of interleukin (IL)-8 and tumor necrosis factor (TNF) in ethanol- or LPS-stimulated KATO III cells.
null
null
null
null
null
Negative
MESH:D020370
null
null
sedentary knee osteoarthritis
5892
null
TRAD
null
28,108,936
The objective of the present study was to compare a group-mediated cognitive behavioral (GMCB) physical activity intervention with traditional exercise therapy (TRAD) upon select social cognitive outcomes in sedentary knee osteoarthritis (knee OA) patients.
null
null
null
null
null
Negative
MESH:D020191
null
null
NOD
3560
null
CD122
null
28,164,571
1 x 107 SKM-1 cells were inoculated into anti-mouse CD122 monoantibody conditioned nonobese diabetic severe combined immunodeficiency (NOD/SCID) mice by intravenous injection.
null
null
null
12
8
Biomarker
C0795864
Smith-Magenis syndrome
disease
SMS
10743
RAI1
RAI1
CTD_human
19,236,431
Validation using real-time quantitative reverse transcriptase polymerase chain reaction confirmed the gene expression profile of 75% of the selected genes analyzed in both HEK293T RAI1 knockdown cells and SMS lymphoblastoid cell lines.
0.48989
Validation using real-time quantitative reverse transcriptase polymerase chain reaction confirmed the gene expression profile of 75% of the selected genes analyzed in both HEK293T <span class="gene" id="19236431-7-180-184">RAI1</span> knockdown cells and <span class="disease" id="19236431-7-205-208">SMS</span> lymphoblastoid cell lines.
CTD_human;ORPHANET
4
0
Therapeutic
C0003873
Rheumatoid Arthritis
disease
rheumatoid arthritis
7124
TNF
TNFalpha
CTD_human
12,566,094
Because interleukin-1beta (IL-1beta) and tumor necrosis factor-alpha (TNFalpha) are central to the progression of inflammation and joint tissue injury in patients with rheumatoid arthritis, we investigated human monocyte IL-1beta and TNFalpha responses after the addition of AjA to cells in vitro.
0.50559
Because interleukin-1beta (IL-1beta) and <span class="gene" id="12566094-2-41-68">tumor necrosis factor-alpha</span> (<span class="gene" id="12566094-2-70-78">TNFalpha</span>) are central to the progression of inflammation and joint tissue injury in patients with <span class="disease" id="12566094-2-168-188">rheumatoid arthritis</span>, we investigated human monocyte IL-1beta and <span class="gene" id="12566094-2-234-242">TNFalpha</span> responses after the addition of AjA to cells in vitro.
CTD_human
1
0
Biomarker
C0004352
Autistic Disorder
disease
autism
7133
TNFRSF1B
tumor necrosis factor receptor II
CTD_human
16,139,734
In sera from 35 persons with autism, among cytokines, only tumor necrosis factor receptor II was elevated compared with controls (P < 0.02).
0.2
In sera from 35 persons with <span class="disease" id="16139734-4-29-35">autism</span>, among cytokines, only <span class="gene" id="16139734-4-59-92">tumor necrosis factor receptor II</span> was elevated compared with controls (P &lt; 0.02).
CTD_human
null
null
Negative
MESH:D030342
null
null
autosomal recessive genetic disorder
445
null
argininosuccinate synthetase 1
null
28,132,756
OBJECTIVES: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme.
null
null
null
6
0
Therapeutic
C0019243
Angioedemas, Hereditary
disease
HAE
710
SERPING1
C1-INH
CTD_human
23,634,741
In the past, few treatment options were available; however, several new therapies with proven efficacy have recently become available to treat and prevent HAE attacks, such as plasma-derived and recombinant C1-INHs that replace the deficient protein, bradykinin receptor antagonist (icatibant) that blocks bradykinin activity and kallikrein inhibitor (ecallantide) that prevents bradykinin release.
0.247499
In the past, few treatment options were available; however, several new therapies with proven efficacy have recently become available to treat and prevent <span class="disease" id="23634741-4-155-158">HAE</span> attacks, such as plasma-derived and recombinant <span class="gene" id="23634741-4-207-213">C1-INH</span>s that replace the deficient protein, bradykinin receptor antagonist (icatibant) that blocks bradykinin activity and kallikrein inhibitor (ecallantide) that prevents bradykinin release.
CTD_human
null
null
Negative
MESH:D006623
null
null
VHL
3091
null
HIF1a
null
28,143,140
We experimentally validated VHL and HIF1a as likely direct targets of miR-17 and miR-224.
null
null
null
1
0
Biomarker
C0004114
Astrocytoma
disease
astroglioma
4314
MMP3
MMP-3
CTD_human
20,188,714
In the present study, we found that glycitein, a bacterial metabolite of the isoflavone glycitin, inhibits the expression of MMP-3 and MMP-9 at promoter, mRNA, and protein levels in PMA-stimulated U87MG human astroglioma cells.
0.203231
In the present study, we found that glycitein, a bacterial metabolite of the isoflavone glycitin, inhibits the expression of <span class="gene" id="20188714-3-125-130">MMP-3</span> and MMP-9 at promoter, mRNA, and protein levels in PMA-stimulated U87MG human <span class="disease" id="20188714-3-209-220">astroglioma</span> cells.
CTD_human
2
6
Biomarker
C0011860
Diabetes Mellitus, Non-Insulin-Dependent
disease
T2D
6934
TCF7L2
TCF7L2
CTD_human
17,460,697
We conducted a genome-wide association study for type 2 diabetes (T2D) in Icelandic cases and controls, and we found that a previously described variant in the transcription factor 7-like 2 gene (TCF7L2) gene conferred the most significant risk.
0.37913
We conducted a genome-wide association study for <span class="disease" id="17460697-1-49-64">type 2 diabetes</span> (<span class="disease" id="17460697-1-66-69">T2D</span>) in Icelandic cases and controls, and we found that a previously described variant in the <span class="gene" id="17460697-1-160-189">transcription factor 7-like 2</span> gene (<span class="gene" id="17460697-1-196-202">TCF7L2</span>) gene conferred the most significant risk.
CTD_human
null
null
Negative
MESH:D006470
null
null
bleeding
26193
null
ND-1
null
28,097,150
In this manuscript we reported a novel naphthalenic derivative compound ND-1 with potent antithrombotic effect and lower bleeding risk.
null
null
null