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1
96
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0
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
pmid
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104k
28.2M
raw_sentence
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39
1.09k
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float64
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1
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143
948
source
stringclasses
9 values
null
null
Negative
MESH:D005234
null
null
hepatic steatosis
53791
null
Toll-like receptor 5
null
28,090,564
For example, mice lacking the flagellin receptor Toll-like receptor 5 (TLR5) show microbial dysbiosis and predisposition to high-fat diet (HFD)-induced hepatic steatosis.
null
null
null
null
null
Negative
MESH:D000860
null
null
hypoxia
22339
null
vascular endothelial growth factor
null
28,052,006
The miR-21 expression was positively correlated with both the mRNA and protein level of key angiogenic factors including vascular endothelial growth factor (VEGF)-A and hypoxia-inducible factor-1a (HIF-1a).
null
null
null
null
null
Negative
MESH:D010146
null
null
different pain
12965
null
NOP
null
28,116,100
Collectively the present results confirm and extend previous finding demonstrating that cebranopadol, by acting as mixed NOP/opioid receptor agonist, elicits robust analgesic effects in different pain models.
null
null
null
null
null
Negative
MESH:D017544
null
null
AbdoMinal aortic anEurysm
50968
null
FAME
null
28,049,491
METHODS/DESIGN: Fenofibrate in the management of AbdoMinal aortic anEurysm (FAME) is a multicentre, randomised, double-blind, placebo-controlled clinical trial to assess the effect of orally administered therapy with fenofibrate on key pathological markers of AAA in patients undergoing open AAA repair.
null
null
null
64
0
Therapeutic
C0002871
Anemia
disease
anaemia
2056
EPO
Epo
CTD_human
2,206,997
These results suggest that rHu Epo might be useful for the therapy of anaemia associated with anticancer chemotherapy.
0.24092
These results suggest that rHu <span class="gene" id="2206997-6-31-34">Epo</span> might be useful for the therapy of <span class="disease" id="2206997-6-70-77">anaemia</span> associated with anticancer chemotherapy.
CTD_human
2
0
Biomarker
C0024117
Chronic Obstructive Airway Disease
disease
COPD
3066
HDAC2
HDAC2
CTD_human
18,421,014
Histone deacetylase-2 (HDAC2), a critical component of the corticosteroid anti-inflammatory action, is impaired in lungs of patients with COPD and correlates with disease severity.
0.282747
<span class="gene" id="18421014-2-0-21">Histone deacetylase-2</span> (<span class="gene" id="18421014-2-23-28">HDAC2</span>), a critical component of the corticosteroid anti-inflammatory action, is impaired in lungs of patients with <span class="disease" id="18421014-2-138-142">COPD</span> and correlates with disease severity.
CTD_human
null
null
Negative
MESH:C566530
null
null
BSND
2706
null
GJB2
null
28,012,523
To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing.
null
null
null
2
0
Biomarker
C0033860
Psoriasis
disease
psoriasis
2706
GJB2
GJB2
CTD_human
20,953,187
We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P < 5 × 10??) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 × 10?²¹) in the European studies.
0.203506
We identified six new susceptibility loci associated with <span class="disease" id="20953187-2-58-67">psoriasis</span> in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, <span class="gene" id="20953187-2-141-145">GJB2</span>, SERPINB8 and ZNF816A (combined P &lt; 5 &times; 10??) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 &times; 10?²¹) in the European studies.
CTD_human
null
null
Negative
MESH:D004833
null
null
temporal lobe epilepsy
24257
null
CeA
null
28,060,294
We administer pilocarpine into the left central nucleus of the amygdala (CeA) to simulate focal temporal lobe epilepsy (TLE) in rats.
null
null
null
1
0
Therapeutic
C0030193
Pain
phenotype
pain
3060
HCRT
orexin
CTD_human
16,202,530
Furthermore we studied effects of histamine H1 and H2 receptor antagonists on orexin A-produced antinociception in C57BL/6 mice.The antinociceptive effects of i.c.v. orexin A were greater in histamine H1 receptor or H2 receptor knockout mice than in the wild-type mice in all four assays of pain.
0.200275
Furthermore we studied effects of histamine H1 and H2 receptor antagonists on <span class="gene" id="16202530-6-78-84">orexin</span> A-produced antinociception in C57BL/6 mice.The antinociceptive effects of i.c.v. <span class="gene" id="16202530-6-166-172">orexin</span> A were greater in histamine H1 receptor or H2 receptor knockout mice than in the wild-type mice in all four assays of <span class="disease" id="16202530-6-291-295">pain</span>.
CTD_human
null
null
Negative
MESH:D007239
null
null
infection
281246
null
IL-10
null
28,159,234
In addition, these two stages displayed lower reactivity to IL-10; which suggests a deficit of anti-inflammatory cytokines, suppressed immunity and persistence of the infection.
null
null
null
null
null
Negative
MESH:D009369
null
null
tumors
12505
null
CD44
null
28,098,914
miR-647 also reduced the expression levels of genes associated with proliferation and metastasis in tumors, including ANK2, FAK, MMP2, MMP12, CD44 and SNAIL1.
null
null
null
null
null
Negative
MESH:D003866
null
null
depression
12350;12346
null
CA3-CA1
null
28,193,523
Here we find that a systemic administration of the FAAH inhibitor PF3845 or an intra-CA1 application of AEA elicits an in vivo long-term depression (LTD) at excitatory glutamatergic CA3-CA1 synapses of the hippocampus.
null
null
null
1
0
Biomarker
C0007137
Squamous cell carcinoma
disease
squamous cell carcinomas
29108
PYCARD
TMS1
CTD_human
16,778,195
Hypermethylation of ASC/TMS1 is also associated with invasive cancers (41 of 152 or 27.0% of all lung cancer types) with variation in incidence between histopathologic types including 32.1% (26 of 81) of adenocarcinomas, 13.2% (7 of 53) of squamous cell carcinomas, 38.5% (5 of 13) of large-cell carcinomas, and 60% (3 of 5) of small-cell lung cancers.
0.200275
Hypermethylation of <span class="gene" id="16778195-5-20-23">ASC</span>/<span class="gene" id="16778195-5-24-28">TMS1</span> is also associated with invasive cancers (41 of 152 or 27.0% of all lung cancer types) with variation in incidence between histopathologic types including 32.1% (26 of 81) of adenocarcinomas, 13.2% (7 of 53) of <span class="disease" id="16778195-5-240-264">squamous cell carcinomas</span>, 38.5% (5 of 13) of large-cell carcinomas, and 60% (3 of 5) of small-cell lung cancers.
CTD_human
null
null
Negative
MESH:D008171
null
null
pulmonary alveoli
29467
null
CHOP
null
28,081,472
Morphological measurements showed that protein BAX and CHOP accumulated in the alveolar epithelium and the alveolar walls with epithelium were damaged and that the number of pulmonary alveoli decreased.
null
null
null
2
0
Biomarker
C0007222
Cardiovascular Diseases
group
CVD
7412
VCAM1
VCAM1
CTD_human
25,575,156
Of the 170 SNPs tested, multiplicative interactions between well-water arsenic and two SNPs, rs281432 in ICAM1 (padj = 0.0002) and rs3176867 in VCAM1 (padj = 0.035), were significant for CVD after adjustment for multiple testing.
0.209796
Of the 170 SNPs tested, multiplicative interactions between well-water arsenic and two SNPs, rs281432 in ICAM1 (padj = 0.0002) and rs3176867 in <span class="gene" id="25575156-6-144-149">VCAM1</span> (padj = 0.035), were significant for <span class="disease" id="25575156-6-187-190">CVD</span> after adjustment for multiple testing.
CTD_human
1
0
Biomarker
C1510586
Autism Spectrum Disorders
disease
ASD
5021
OXTR
OXTR
CTD_human
20,832,055
Furthermore, amygdala volume measured with magnetic resonance imaging could be a useful intermediate phenotype to uncover the complex link between OXTR and social dysfunction in ASD.
0.203297
Furthermore, amygdala volume measured with magnetic resonance imaging could be a useful intermediate phenotype to uncover the complex link between <span class="gene" id="20832055-10-147-151">OXTR</span> and social dysfunction in <span class="disease" id="20832055-10-178-181">ASD</span>.
CTD_human
null
null
Negative
MESH:D009336
null
null
tumor necrosis factor
21926
null
TNF
null
28,088,582
Etanercept, a tumor necrosis factor (TNF)-decoy receptor, was used to study the contribution of TNF-a during LPS-mediated liver injury.
null
null
null
1
0
Therapeutic
C1458155
Mammary Neoplasms
group
breast tumors
6518
SLC2A5
Glut5
CTD_human
15,449,313
The results imply an alternative way in treating breast tumor as the AS against Glut5, unlike tamoxifen, takes effect on breast tumor cells via suppressing the expression of Glut5 that they specifically possess, and regardless whether the breast tumors are estrogen dependent or not.
0.200549
The results imply an alternative way in treating <span class="disease" id="15449313-9-49-61">breast tumor</span> as the AS against <span class="gene" id="15449313-9-80-85">Glut5</span>, unlike tamoxifen, takes effect on <span class="disease" id="15449313-9-121-133">breast tumor</span> cells via suppressing the expression of <span class="gene" id="15449313-9-174-179">Glut5</span> that they specifically possess, and regardless whether the <span class="disease" id="15449313-9-239-252">breast tumors</span> are estrogen dependent or not.
CTD_human
3
0
Biomarker
C0020429
Hyperalgesia
phenotype
hyperalgesia
3569
IL6
IL-6
CTD_human
10,401,557
The ODQ potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.
0.28
The ODQ potentiated <span class="disease" id="10401557-10-20-32">hyperalgesia</span> induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, <span class="gene" id="10401557-10-91-95">IL-6</span> and IL-8.
CTD_human
null
null
Negative
MESH:D006943
null
null
hyperglycemia
20693
null
SPc
null
28,178,616
In addition, subchronic administration of PPc has shown more significant (P<= 0.05) amelioration of hyperglycemia, weight-loss and oxidative stress at all doses compared to SPc administration.
null
null
null
2
0
Biomarker
C1868720
Periventricular Nodular Heterotopia
disease
periventricular heterotopia
2316
FLNA
FLN1
CTD_human
11,914,408
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
0.490714
Familial <span class="disease" id="11914408-0-9-36">periventricular heterotopia</span>: missense and distal truncating mutations of the <span class="gene" id="11914408-0-86-90">FLN1</span> gene.
CTD_human;ORPHANET
3
0
Biomarker
C0036572
Seizures
phenotype
seizures
6750
SST
SRIF-14
CTD_human
20,134,357
SRA880 did not affect seizure severity and did not reverse the anticonvulsive action of SRIF-14 (1 microM) against pilocarpine-induced seizures, suggesting that hippocampal sst(1) receptors are not involved in the anticonvulsive effects of SRIF-14.
0.200549
SRA880 did not affect <span class="disease" id="20134357-4-22-29">seizure</span> severity and did not reverse the anticonvulsive action of <span class="gene" id="20134357-4-88-95">SRIF-14</span> (1 microM) against pilocarpine-induced <span class="disease" id="20134357-4-135-143">seizures</span>, suggesting that hippocampal sst(1) receptors are not involved in the anticonvulsive effects of <span class="gene" id="20134357-4-240-247">SRIF-14</span>.
CTD_human
3
0
Biomarker
C0001418
Adenocarcinoma
group
adenocarcinomas
3845
KRAS
KRAS
CTD_human
20,101,149
The Kras mutational spectra of chemically induced lung tumors in different inbred mice mimics the spectra of KRAS mutations in adenocarcinomas in smokers versus nonsmokers.
0.404746
The Kras mutational spectra of chemically induced lung tumors in different inbred mice mimics the spectra of <span class="gene" id="20101149-0-109-113">KRAS</span> mutations in <span class="disease" id="20101149-0-127-142">adenocarcinomas</span> in smokers versus nonsmokers.
CTD_human
1
0
Biomarker
C0027627
Neoplasm Metastasis
phenotype
metastasis
301
ANXA1
Annexin A1
CTD_human
20,308,542
Annexin A1 regulates TGF-beta signaling and promotes metastasis formation of basal-like breast cancer cells.
0.283022
<span class="gene" id="20308542-0-0-10">Annexin A1</span> regulates TGF-beta signaling and promotes <span class="disease" id="20308542-0-53-63">metastasis</span> formation of basal-like breast cancer cells.
CTD_human
null
null
Negative
MESH:D017827
null
null
wild-type
196
null
Ahr
null
28,113,104
Female wild-type (WT) and Ahr-deficient (knockout; KO) mice (10-12 weeks old) were divided into four groups and fed either a control or 0.5% tryptophan diet.
null
null
null
1
0
Therapeutic
C0025149
Medulloblastoma
disease
MB
2100
ESR2
ER?
CTD_human
21,351,254
We next investigated the molecular mechanisms by which estrogen might influence tumor progression and show that ER?, but not ER?, is involved in modulation of MB development by estrogens.
0.201099
We next investigated the molecular mechanisms by which estrogen might influence tumor progression and show that <span class="gene" id="21351254-8-112-115">ER&beta;</span>, but not ER&alpha;, is involved in modulation of <span class="disease" id="21351254-8-159-161">MB</span> development by estrogens.
CTD_human
null
null
Negative
MESH:D018805
null
null
sepsis
261727
null
CrCl
null
28,077,047
Patients were excluded for the following: allergy to a cephalosporin, creatinine clearance (CrCl) < 50 mL/min, receipt of concurrent Gram-negative antimicrobial, sepsis, or solid tumor malignancy.
null
null
null
1
0
Biomarker
C0028754
Obesity
disease
obesity
3620
IDO1
IDO1
CTD_human
27,020,609
Inhibition of the aryl hydrocarbon receptor prevents Western diet-induced obesity. Model for AHR activation by kynurenine via oxidized-LDL, TLR2/4, TGF?, and IDO1.
0.2
Inhibition of the aryl hydrocarbon receptor prevents Western diet-induced <span class="disease" id="27020609-0-74-81">obesity</span>. Model for AHR activation by kynurenine via oxidized-LDL, TLR2/4, TGF&beta;, and <span class="gene" id="27020609-0-158-162">IDO1</span>.
CTD_human
null
null
Negative
MESH:D029424
null
null
chronic obstructive pulmonary disease
260431
null
COPD
null
28,005,831
METHODS: We determined whether complications in patients undergoing moderate sedation bronchoscopy differ in those without obstruction compared with chronic obstructive pulmonary disease (COPD).
null
null
null
1
0
Biomarker
C0037274
Dermatologic disorders
group
skin diseases
56547
MMP26
MMP-26
CTD_human
16,984,259
Expression of MMP-26 was detected by immunohistochemistry in granulomatous skin diseases and actinic elastosis.
0.200549
Expression of <span class="gene" id="16984259-7-14-20">MMP-26</span> was detected by immunohistochemistry in granulomatous <span class="disease" id="16984259-7-75-88">skin diseases</span> and actinic elastosis.
CTD_human
5
0
Biomarker
C0011581
Depressive disorder
disease
depression
1269
CNR2
CB2-R
CTD_human
18,286,196
Our data demonstrate the functional expression of CB2-Rs in brain that may provide novel targets for the effects of cannabinoids in depression and substance abuse disorders beyond neuro-immunocannabinoid activity.
0.401099
Our data demonstrate the functional expression of <span class="gene" id="18286196-10-50-55">CB2-R</span>s in brain that may provide novel targets for the effects of cannabinoids in <span class="disease" id="18286196-10-132-142">depression</span> and substance abuse disorders beyond neuro-immunocannabinoid activity.
CTD_human;PSYGENET
1
0
Biomarker
C0034069
Pulmonary Fibrosis
disease
pulmonary fibrosis
1437
CSF2
granulocyte-macrophage colony stimulating factor
CTD_human
17,894,541
Increased granulocyte-colony stimulating factor (G-CSF) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced pulmonary fibrosis.
0.200275
Increased granulocyte-colony stimulating factor (G-CSF) and <span class="gene" id="17894541-0-60-108">granulocyte-macrophage colony stimulating factor</span> (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced <span class="disease" id="17894541-0-184-202">pulmonary fibrosis</span>.
CTD_human
null
null
Negative
MESH:D009369
null
null
tumor
18792
null
urokinase plasminogen activator
null
28,060,552
It also significantly reduced the B19-NS1-exacerbated hepatic matrix metalloproteinase-9 (MMP-9) and urokinase plasminogen activator (uPA) expressions by downregulating tumor necrosis factor (TNF)-a/NF-kB (p65) signaling.
null
null
null
null
null
Negative
MESH:D002277
null
null
vascular invasive carcinoma
12165
null
BMP9
null
28,142,420
BMP9 is upregulated in the RIP1-Tag2 murine model of vascular invasive carcinoma; treatment with a murine version of dalantercept (RAP-041) can inhibit tumor growth.
null
null
null
null
null
Negative
MESH:D020521
null
null
stroke
723819
null
miR-181c
null
28,053,821
However, the roles of miR-181c in stroke are not known.
null
null
null
null
null
Negative
MESH:D014947
null
null
injury to villi/crypts and villus length
24835
null
TNFa
null
28,060,943
The following end-points were analyzed: 7-day survival; biomarkers of enterocyte viability (L-lactate, I-FABP); histology (morphologic injury to villi/crypts and villus length); intestinal permeability (Ussing chamber); endotoxin translocation (Lipopolysaccharide assay); cytokines (IL-6, IL-1-b, TNFa, IFN-y IL-10, IL-13); apoptosis (cleaved caspase-3); and autophagy (LC3, p62).
null
null
null
null
null
Negative
MESH:D011475
null
null
overall survival
1956
null
epidermal growth factor receptor
null
28,131,635
BACKGROUND: To investigate the effect of combined epidermal growth factor receptor (EGFR) and vascular endothelial growth factor (VEGF) receptor (VEGFR) pathway inhibitors on progression-free survival (PFS) and overall survival (OS) in patients with non-small-cell lung cancer (NSCLC).
null
null
null
1
1
Biomarker
C0002736
Amyotrophic Lateral Sclerosis
disease
amyotrophic lateral sclerosis
1804
DPP6
DPP6
CTD_human
18,084,291
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
0.211877
Genetic variation in <span class="gene" id="18084291-0-21-25">DPP6</span> is associated with susceptibility to <span class="disease" id="18084291-0-63-92">amyotrophic lateral sclerosis</span>.
CTD_human
null
null
Negative
MESH:D001929
null
null
brain edema
83810
null
TRPV1
null
28,199,737
Then, infarct volume, brain edema, body temperature, mRNA expression of TRPV1, and serum concentrations of tumor necrosis factor-alpha (TNF-a) and IL-10 were measured.
null
null
null
3
0
Biomarker
C0023530
Leukopenia
disease
leucopenia
7172
TPMT
thiopurine S-methyltransferase
CTD_human
22,535,280
The variant genotype thiopurine S-methyltransferase has been associated with the occurrence of leucopenia.
0.214979
The variant genotype <span class="gene" id="22535280-10-21-51">thiopurine S-methyltransferase</span> has been associated with the occurrence of <span class="disease" id="22535280-10-95-105">leucopenia</span>.
CTD_human
null
null
Negative
MESH:D007153
null
null
defines antibody deficiency
260431
null
COPD
null
28,212,436
We describe here an important observation that defines antibody deficiency as a potential risk factor for frequent COPD exacerbations.
null
null
null
null
null
Negative
MESH:D020151
null
null
protein kinase C
26419
null
c-Jun N-terminal kinase
null
28,130,265
The aim of the present study was to investigate whether tolerance to opioid-induced respiratory depression is mediated by protein kinase C (PKC) and/or c-Jun N-terminal kinase (JNK).
null
null
null
null
null
Negative
MESH:D066253
null
null
pulmonary vascular remodeling
29560
null
HIF-1a
null
28,100,330
CONCLUSIONS: In neonatal rats with HPH, HSP70 transfection can increase the expression of HSP70 in lung tissues, downregulate the expression of HIF-1a, ET-1, and iNOS, alleviate pulmonary vascular remodeling, and reduce pulmonary artery pressure; therefore, it may become a new strategy for the treatment of HPH in neonates.
null
null
null
null
null
Negative
MESH:D050723
null
null
fracture
19227
null
parathyroid hormone-related protein
null
28,178,186
To demonstrate whether an exogenous supply of parathyroid hormone-related protein (PTHrP) helps in bone fracture healing, closed mid-diaphyseal femur fractures were created and stabilized with intramedullary pins in eight-week-old wild-type (WT) PTHrP+/+ and PTHrP+/- mice.
null
null
null
5
0
Biomarker
C0026848
Myopathy
group
myopathy
10599
SLCO1B1
SLCO1B1
CTD_human
21,243,006
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin.
0.214965
Differential effect of the rs4149056 variant in <span class="gene" id="21243006-0-48-55">SLCO1B1</span> on <span class="disease" id="21243006-0-59-67">myopathy</span> associated with simvastatin and atorvastatin.
CTD_human
20
0
Biomarker
C0037769
West Syndrome
disease
infantile spasms
5443
POMC
ACTH
CTD_human
20,078,871
Clinical profile and treatment of infantile spasms using vigabatrin and ACTH--a developing country perspective.
0.203022
Clinical profile and treatment of <span class="disease" id="20078871-0-34-50">infantile spasms</span> using vigabatrin and <span class="gene" id="20078871-0-72-76">ACTH</span>--a developing country perspective.
CTD_human
null
null
Negative
MESH:D064726
null
null
triple negative
672;675
null
BRCA1/2
null
28,021,525
Group A: triple negative (TN); Group B: HER-2 overexpressed (HER-2+); and Group C: BRCA1/2 mutation carriers.
null
null
null
1
0
Biomarker
C0034069
Pulmonary Fibrosis
disease
lung fibrosis
1232
CCR3
CCR3
CTD_human
16,314,464
Together, these data suggest that CCL11 and CCR3 are important in the pulmonary recruitment of granulocytes and play significant pathogenic roles in blm-induced lung fibrosis.
0.200275
Together, these data suggest that CCL11 and <span class="gene" id="16314464-10-44-48">CCR3</span> are important in the pulmonary recruitment of granulocytes and play significant pathogenic roles in blm-induced <span class="disease" id="16314464-10-161-174">lung fibrosis</span>.
CTD_human
null
null
Negative
MESH:D000860
null
null
hypoxia
24185
null
AKT
null
28,186,348
We found that hypoxia can increase the expansion and migration of MSCs by activating the PI3K/AKT and hypoxia-inducible factor-1a/CXC chemokine receptor-4 pathways.
null
null
null
1
0
Biomarker
C0038220
Status Epilepticus
disease
status epilepticus
4208
MEF2C
MEF2C
CTD_human
18,949,272
Myocyte-specific enhancer binding factor 2C (MEF2C) expression in the dentate gyrus during development and after pilocarpine-induced status epilepticus: a preliminary report.
0.2
Myocyte-specific enhancer binding factor 2C (<span class="gene" id="18949272-0-45-50">MEF2C</span>) expression in the dentate gyrus during development and after pilocarpine-induced <span class="disease" id="18949272-0-133-151">status epilepticus</span>: a preliminary report.
CTD_human
null
null
Negative
MESH:D009135
null
null
VML injury
14173
null
basic fibroblast growth factor
null
28,162,053
Herein, KN hydrogels with and without the addition of skeletal muscle progenitor cells (MPCs) and/or insulin-like growth factor 1 (IGF-1) and/or basic fibroblast growth factor (bFGF) were implanted in an established murine model of surgically induced VML injury to the latissimus dorsi (LD) muscle.
null
null
null
2
0
Biomarker
C0043459
Zellweger Syndrome
disease
Zellweger syndrome
5194
PEX13
PEX13
CTD_human
19,449,432
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
0.400549
<span class="disease" id="19449432-0-0-18">Zellweger syndrome</span> caused by <span class="gene" id="19449432-0-29-34">PEX13</span> deficiency: report of two novel mutations.
CTD_human;ORPHANET
null
null
Negative
MESH:D000230
null
null
adenocarcinoma
285782
null
cT3
null
28,133,202
Biopsy specimens revealed mixed squamous- and adenocarcinoma: MtLtUtAeG, 13 cm, type 2, cT3, IM1-St, cN3, cM1(liver, lungs, and stomach), cStage IV b esophagealcarcinoma.
null
null
null
null
null
Negative
MESH:D004194
null
null
organ injury/dysfunction
84027
null
glycogen synthase kinase-3b
null
28,059,970
CONCLUSIONS: Artesunate attenuated the organ injury/dysfunction associated with HS by a mechanism that involves the activation of the Akt-endothelial nitric oxide synthase survival pathway, and the inhibition of glycogen synthase kinase-3b and nuclear factor kappa B.
null
null
null
null
null
Negative
MESH:D010024
null
null
osteoporosis
286779
null
ATP6V1H
null
28,158,191
We identified two generations of individuals in which short stature and osteoporosis co-segregated with a mutation in ATP6V1H.
null
null
null
null
null
Negative
MESH:D002764
null
null
cholecystitis
100326838
null
AST
null
28,014,041
No hospital death and PI-related morbidity were observed (elevation of AST/ALT in 1 CTR and 1 PIG, and cholecystitis in 1 CTR patients).
null
null
null
68
0
Therapeutic
C0020538
Hypertensive disease
group
hypertension
5443
POMC
ACTH
CTD_human
2,992,854
Potentiation of ACTH hypertension in man with salt loading.
0.203846
Potentiation of <span class="gene" id="2992854-0-16-20">ACTH</span> <span class="disease" id="2992854-0-21-33">hypertension</span> in man with salt loading.
CTD_human
1
0
Biomarker
C0025958
Microcephaly
disease
microcephaly
7283
TUBG1
TUBG1
CTD_human
23,603,762
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
0.2
Mutations in <span class="gene" id="23603762-0-13-18">TUBG1</span>, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and <span class="disease" id="23603762-0-93-105">microcephaly</span>.
CTD_human
1
0
Biomarker
C1956346
Coronary Artery Disease
disease
coronary artery disease
9365
KL
KLOTHO
CTD_human
12,669,274
KLOTHO allele status and the risk of early-onset occult coronary artery disease.
0.202747
<span class="gene" id="12669274-0-0-6">KLOTHO</span> allele status and the risk of early-onset occult <span class="disease" id="12669274-0-56-79">coronary artery disease</span>.
CTD_human
null
null
Negative
MESH:D001943
null
null
TNBC
53378
null
syndecan-binding protein
null
28,141,839
Our previous study showed that downregulating syndecan-binding protein (SDCBP) in TNBC inhibits the proliferation of TNBC cells.
null
null
null
null
null
Negative
MESH:D009069
null
null
intellectual disability
22589
null
ATRX
null
28,093,507
A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and nonsyndromic intellectual disability.
null
null
null
null
null
Negative
MESH:D006963
null
null
Hyperphagia
59301
null
ghrelin
null
28,054,308
Hyperphagia induced by the intracerebroventricular (icv) administration of ghrelin was significantly suppressed for at least 2 h by pretreatment with icv administration of DORA.
null
null
null
null
null
Negative
MESH:D050197
null
null
atherosclerosis
11600
null
Ang-1
null
28,069,704
We investigated the role of Ang-1 in atherosclerosis-prone apolipoprotein-E (Apo-E) knockout mouse.
null
null
null
21
87
Biomarker
C0033847
Pseudoxanthoma Elasticum
disease
pseudoxanthoma elasticum
368
ABCC6
MRP6
CTD_human
11,880,368
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
0.77791
Loss of ATP-dependent transport activity in <span class="disease" id="11880368-0-44-68">pseudoxanthoma elasticum</span>-associated mutants of human <span class="gene" id="11880368-0-97-102">ABCC6</span> (<span class="gene" id="11880368-0-104-108">MRP6</span>).
CTD_human;ORPHANET;UNIPROT
1
0
Biomarker
C0040953
Trichotillomania
disease
trichotillomania
3218
HOXB8
Hoxb8
CTD_human
11,779,477
The aberrant behavior observed in Hoxb8 mutants is not unlike that of humans suffering from the OC-spectrum disorder, trichotillomania.
0.280275
The aberrant behavior observed in <span class="gene" id="11779477-8-34-39">Hoxb8</span> mutants is not unlike that of humans suffering from the OC-spectrum disorder, <span class="disease" id="11779477-8-118-134">trichotillomania</span>.
CTD_human
2
0
Biomarker
C0242422
Parkinsonian Disorders
group
parkinsonism
7054
TH
tyrosine hydroxylase
CTD_human
8,817,341
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
0.403846
Recessively inherited L-DOPA-responsive <span class="disease" id="8817341-0-40-52">parkinsonism</span> in infancy caused by a point mutation (L205P) in the <span class="gene" id="8817341-0-106-126">tyrosine hydroxylase</span> gene.
CTD_human;HPO
null
null
Negative
MESH:D014808
null
null
VD
18036
null
IkB
null
28,055,298
Finally, the ability of VD to deactivate NF-kB signaling, via p65 and IkB phosphorylation inhibition in murine adipocyte, was observed and could constitute a driving molecular mechanism.
null
null
null
1
0
Biomarker
C0036341
Schizophrenia
disease
SZ
3123
HLA-DRB1
HLA-DRB1
CTD_human
16,223,876
Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.
0.211067
Implementing this systematic approach, we: (i) discovered 177 putative <span class="disease" id="16223876-4-71-73">SZ</span> risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, <span class="gene" id="16223876-4-337-345">HLA-DRB1</span>, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.
CTD_human
1
0
Biomarker
C0023267
Fibroid Tumor
disease
leiomyomas
2099
ESR1
ER-alpha
CTD_human
18,701,604
Further analysis of the DNA methylation status by bisulfite restriction mapping among 11 paired samples of myometrium and leiomyoma indicated that CpG sites in the distal region of ER-alpha promoter are hypomethylated in leiomyomas of nine patients.
0.243463
Further analysis of the DNA methylation status by bisulfite restriction mapping among 11 paired samples of myometrium and <span class="disease" id="18701604-7-122-131">leiomyoma</span> indicated that CpG sites in the distal region of <span class="gene" id="18701604-7-181-189">ER-alpha</span> promoter are hypomethylated in <span class="disease" id="18701604-7-221-231">leiomyomas</span> of nine patients.
CTD_human
null
null
Negative
MESH:D009369
null
null
tumor
20296
null
monocyte chemotactic protein 1
null
28,074,537
Moreover, the TG mice displayed a pro-inflammatory profile, with significant increases in monocyte chemotactic protein 1, tumor necrosis factor alpha, and interleukin-10.
null
null
null
1
0
Biomarker
C1832200
Peroxisome biogenesis disorders
group
peroxisome-biogenesis disorders
55670
PEX26
PEX26
CTD_human
12,851,857
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
0.201099
Mutations in novel peroxin gene <span class="gene" id="12851857-0-32-37">PEX26</span> that cause <span class="disease" id="12851857-0-49-80">peroxisome-biogenesis disorders</span> of complementation group 8 provide a genotype-phenotype correlation.
CTD_human
1
0
Biomarker
C0152427
Polydactyly
disease
polydactyly
60529
ALX4
Alx4
CTD_human
9,847,249
First, mutation of Cart1 exacerbates Alx4-dependent polydactyly in a manner that is dependent on gene dosage.
0.2
First, mutation of Cart1 exacerbates <span class="gene" id="9847249-8-37-41">Alx4</span>-dependent <span class="disease" id="9847249-8-52-63">polydactyly</span> in a manner that is dependent on gene dosage.
CTD_human
null
null
Negative
MESH:D000592
null
null
HA
12505
null
CD44
null
28,208,014
In particular, HPN treatment dramatically inhibited tumor growth, likely because of the specific tumor-targeting affinity of HA for CD44-overexpressed cancer cells.
null
null
null
7
0
Biomarker
C0033578
Prostatic Neoplasms
group
prostate tumor
6648
SOD2
SOD2
CTD_human
19,074,884
In a low-selenium population, SOD2-Ala16+ men homozygous for SEPP1-Ala234 are at an increased risk of prostate cancer/aggressive prostate cancer especially if ever-smokers, because they are likely to produce more mitochondrial H(2)O(2) that they cannot remove, thereby promoting prostate tumor cell proliferation and migration.
0.219354
In a low-selenium population, <span class="gene" id="19074884-13-30-34">SOD2</span>-Ala16+ men homozygous for SEPP1-Ala234 are at an increased risk of prostate cancer/aggressive prostate cancer especially if ever-smokers, because they are likely to produce more mitochondrial H(2)O(2) that they cannot remove, thereby promoting <span class="disease" id="19074884-13-279-293">prostate tumor</span> cell proliferation and migration.
CTD_human
null
null
Negative
MESH:D001943
null
null
BC
672;675
null
BRCA1/2
null
28,023,740
We also analyzed 24 BC patients with a family history (BRCAPRO scores > 80%; Manchester score >40) without BRCA1/2 mutations.
null
null
null
11
0
Biomarker
C0020429
Hyperalgesia
phenotype
hyperalgesia
7124
TNF
tumor necrosis factor alpha
CTD_human
16,472,913
Neither of these inhibitors, however, affected tumor necrosis factor alpha, prostaglandin E2 or epinephrine hyperalgesia.
0.280549
Neither of these inhibitors, however, affected <span class="gene" id="16472913-5-47-74">tumor necrosis factor alpha</span>, prostaglandin E2 or epinephrine <span class="disease" id="16472913-5-108-120">hyperalgesia</span>.
CTD_human
1
0
Biomarker
C0026769
Multiple Sclerosis
disease
MS
348
APOE
APOE
CTD_human
15,048,896
Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4.
0.316713
Accelerated evolution of brain atrophy and "black holes" in <span class="disease" id="15048896-0-60-62">MS</span> patients with <span class="gene" id="15048896-0-77-81">APOE</span>-epsilon 4.
CTD_human
null
null
Negative
MESH:D002545
null
null
HIE
362119
null
C5a
null
28,002,390
RESULTS: We found that HT increased systemic expression of C3a and decreased expression of C5a after HIE.
null
null
null
null
null
Negative
MESH:D002908
null
null
chronic disorder
3630
null
insulin
null
28,198,081
Diabetes mellitus is a chronic disorder caused by relative or absolute insulin deficiency and characterized by chronic hyperglycaemia.
null
null
null
69
0
Therapeutic
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:C536293
null
null
JS
9851
null
KIAA0753
null
28,125,082
RESULTS: We identified the causative gene in 94% of the families; 126 (27 novel) unique potentially pathogenic variants were found in 20 genes, including KIAA0753 and CELSR2, which had not previously been associated with JS.
null
null
null
1
0
Biomarker
C0035412
Rhabdomyosarcoma
disease
rhabdomyosarcoma
5395
PMS2
PMS2
CTD_human
19,293,170
In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue.
0.400275
In family 2, immunohistochemistry analysis showed isolated loss of <span class="gene" id="19293170-7-67-71">PMS2</span> expression in all tumours in the affected patients, including <span class="disease" id="19293170-7-134-150">rhabdomyosarcoma</span> itself and the surrounding normal tissue.
CTD_human;HPO
2
1
Biomarker
C0026691
Mucocutaneous Lymph Node Syndrome
disease
Kawasaki disease
2212
FCGR2A
FCGR2A
CTD_human
22,446,962
We also replicated the association of a functional SNP of FCGR2A (rs1801274, P = 1.6 × 10(-6)) identified in a recently reported GWAS of Kawasaki disease.
0.205429
We also replicated the association of a functional SNP of <span class="gene" id="22446962-4-58-64">FCGR2A</span> (rs1801274, P = 1.6 &times; 10(-6)) identified in a recently reported GWAS of <span class="disease" id="22446962-4-137-153">Kawasaki disease</span>.
CTD_human
null
null
Negative
MESH:D009369
null
null
inha/Tag adrenal tumors
18019
null
Nfatc2
null
28,131,743
Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inha/Tag adrenal tumors.
null
null
null
3
0
Biomarker
C0027627
Neoplasm Metastasis
phenotype
metastasis
7040
TGFB1
TGF-?1
CTD_human
23,146,760
Resveratrol inhibits TGF-?1-induced epithelial-to-mesenchymal transition and suppresses lung cancer invasion and metastasis.
0.231797
Resveratrol inhibits <span class="gene" id="23146760-0-21-27">TGF-&beta;1</span>-induced epithelial-to-mesenchymal transition and suppresses lung cancer invasion and <span class="disease" id="23146760-0-113-123">metastasis</span>.
CTD_human
1
0
Biomarker
C0014544
Epilepsy
disease
epilepsy
22953
P2RX2
P2X2
CTD_human
12,941,474
Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil.
0.2
Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic <span class="disease" id="12941474-4-90-98">epilepsy</span> model, the expressions of both <span class="gene" id="12941474-4-130-134">P2X2</span> and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil.
CTD_human
1
0
Biomarker
C0003615
Appendicitis
disease
appendicitis
3586
IL10
IL-10
CTD_human
16,367,942
The increased IFN-gamma may support the notion of gangrenous appendicitis as an uncontrolled Th1 mediated inflammatory response and increased IL-10 may speculatively indicate the involvement of cytotoxic cells in the progression to perforation.
0.2
The increased IFN-gamma may support the notion of gangrenous <span class="disease" id="16367942-10-61-73">appendicitis</span> as an uncontrolled Th1 mediated inflammatory response and increased <span class="gene" id="16367942-10-142-147">IL-10</span> may speculatively indicate the involvement of cytotoxic cells in the progression to perforation.
CTD_human
null
null
Negative
MESH:D008107
null
null
liver dysfunction
12364
null
Casp12
null
28,098,217
However, a subgroup of (pre)pubertal knockout mice (runts) exhibits a pronounced male prevalent liver dysfunction characterized by downregulated amino acid metabolism and elevated Casp12.
null
null
null
1
0
Biomarker
C0023492
Leukemia, T-Cell
disease
T-cell leukemia
4005
LMO2
Rhom-2
CTD_human
2,034,676
Therefore, chromosome bands 11p15 (rhombotin) and 11p13 (Rhom-2) are consistent sites of chromosome translocation in T-cell leukemia, with the 11p15 target more rarely involved.
0.203022
Therefore, chromosome bands 11p15 (rhombotin) and 11p13 (<span class="gene" id="2034676-10-57-63">Rhom-2</span>) are consistent sites of chromosome translocation in <span class="disease" id="2034676-10-117-132">T-cell leukemia</span>, with the 11p15 target more rarely involved.
CTD_human
null
null
Negative
MESH:D001855
null
null
bone marrow toxicity
16551
null
Eg5
null
28,022,538
RESULTS: The bone marrow toxicity and DNA damage seen with other Eg5 inhibitors were not evident with ARQ 621.
null
null
null
1
0
Biomarker
C0018801
Heart failure
disease
heart failure
156
GRK2
GRK2
CTD_human
26,670,611
Conversely, the dual-specific GRK2 and ERK cascade inhibitor, RKIP (Raf kinase inhibitor protein), triggered dysfunctional cardiomyocyte energetics and the expression of heart failure-promoting Pparg-regulated genes.
0.208176
Conversely, the dual-specific <span class="gene" id="26670611-8-30-34">GRK2</span> and ERK cascade inhibitor, RKIP (Raf kinase inhibitor protein), triggered dysfunctional cardiomyocyte energetics and the expression of <span class="disease" id="26670611-8-170-183">heart failure</span>-promoting Pparg-regulated genes.
CTD_human
6
2
Biomarker
C2239176
Liver carcinoma
disease
hepatocellular carcinoma
7157
TP53
p53
CTD_human
17,191,126
Different levels of p53 induced either apoptosis or cell cycle arrest in a doxycycline-regulated hepatocellular carcinoma cell line in vitro.
0.672301
Different levels of <span class="gene" id="17191126-0-20-23">p53</span> induced either apoptosis or cell cycle arrest in a doxycycline-regulated <span class="disease" id="17191126-0-97-121">hepatocellular carcinoma</span> cell line in vitro.
CTD_human;HPO
null
null
Negative
MESH:D009362
null
null
metastasis
17381
null
MMP12
null
28,098,914
miR-647 also reduced the expression levels of genes associated with proliferation and metastasis in tumors, including ANK2, FAK, MMP2, MMP12, CD44 and SNAIL1.
null
null
null
14
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
1906
EDN1
endothelin-1
CTD_human
11,847,185
No study has yet determined the impact of this polymorphism on vascular reactivity, although a functional role for endothelin-1 in the pathophysiology of hypertension has been clarified.
0.339563
No study has yet determined the impact of this polymorphism on vascular reactivity, although a functional role for <span class="gene" id="11847185-2-115-127">endothelin-1</span> in the pathophysiology of <span class="disease" id="11847185-2-154-166">hypertension</span> has been clarified.
CTD_human
null
null
Negative
MESH:D024801
null
null
tauopathy
5563
null
AMPK
null
28,202,389
The introduction of miR-101b mimics or small interfering RNAs (siRNAs) against AMPK blocked HDAC2-induced tauopathy and dendritic impairments in vitro.
null
null
null
14
181
Biomarker
C0175695
Sotos' syndrome
disease
Sotos syndrome
64324
NSD1
NSD1
CTD_human
16,188,863
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.
0.627551
Auxological data in patients clinically suspected of <span class="disease" id="16188863-0-53-67">Sotos syndrome</span> with <span class="gene" id="16188863-0-73-77">NSD1</span> gene alterations.
CTD_human;ORPHANET;UNIPROT
2
0
Biomarker
C1832200
Peroxisome biogenesis disorders
group
peroxisome biogenesis disorders
5190
PEX6
peroxisome assembly factor-2
CTD_human
10,408,779
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
0.201648
Genomic structure and identification of 11 novel mutations of the <span class="gene" id="10408779-0-66-70">PEX6</span> (<span class="gene" id="10408779-0-72-100">peroxisome assembly factor-2</span>) gene in patients with <span class="disease" id="10408779-0-124-155">peroxisome biogenesis disorders</span>.
CTD_human
1
0
Biomarker
C2239176
Liver carcinoma
disease
hepatocellular carcinoma
4313
MMP2
MMP-2
CTD_human
20,084,675
Our results reveal that BA exerts its anti-metastatic effect against DEN-induced hepatocellular carcinoma by inhibiting the activities and expressions of MMP-2 and MMP-9.
0.221609
Our results reveal that BA exerts its anti-metastatic effect against DEN-induced <span class="disease" id="20084675-9-81-105">hepatocellular carcinoma</span> by inhibiting the activities and expressions of <span class="gene" id="20084675-9-154-159">MMP-2</span> and MMP-9.
CTD_human
1
0
Biomarker
C0011882
Diabetic Neuropathies
group
diabetic neuropathy
4313
MMP2
MMP-2
CTD_human
20,213,226
The results of the present study suggest that MMP-2 and MMP-9 inhibition in the presence of COX inhibitor prevents the development of experimental diabetic neuropathy in rats and can be a potential approach for the treatment.
0.2
The results of the present study suggest that <span class="gene" id="20213226-5-46-51">MMP-2</span> and MMP-9 inhibition in the presence of COX inhibitor prevents the development of experimental <span class="disease" id="20213226-5-147-166">diabetic neuropathy</span> in rats and can be a potential approach for the treatment.
CTD_human