Datasets:

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1
96
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0
1.07k
associationType
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3 values
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1.09k
score
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948
source
stringclasses
9 values
null
null
Negative
MESH:D009394
null
null
Alport's syndrome
60498
null
IgAN
null
28,197,459
The most common diagnostic entity was IgMN (46.6%) followed by IgAN (30%) along with few cases of class II LN, C1qN, minimal change disease (MCD), Alport's syndrome, focal segmental glomerulosclerosis (FSGS), thin basement membrane disease (TBMD), and fibrillary glomerulonephritis.
null
null
null
1
0
Biomarker
C0011849
Diabetes Mellitus
group
diabetes
23411
SIRT1
Sirt1
CTD_human
24,894,401
Thus, in diabetes, increase in oxidative stress inhibits Sirt1 and p65 is hyperacetylated, increasing the binding of p65 at MMP-9 promoter.
0.206044
Thus, in <span class="disease" id="24894401-12-9-17">diabetes</span>, increase in oxidative stress inhibits <span class="gene" id="24894401-12-57-62">Sirt1</span> and p65 is hyperacetylated, increasing the binding of p65 at MMP-9 promoter.
CTD_human
null
null
Negative
MESH:D057180
null
null
FTD
14824
null
GRN
null
28,093,491
Aberrant microglial function has also been implicated in FTD caused by GRN, MAPT and C9orf72 mutations.
null
null
null
null
null
Negative
MESH:D017827
null
null
wild-type
11450
null
adiponectin
null
28,073,830
To investigate the causal role of hypoadiponectinemia in GDM, adiponectin gene knockout (Adipoq-/- ) and wild-type (WT) mice were crossed to produce pregnant mouse models with or without adiponectin deficiency.
null
null
null
null
null
Negative
MESH:D002527
null
null
RN
8811
null
GalR2
null
28,013,000
Galanin receptor type 1 (GalR1)/type 2 (GalR2) antagonist M40, and a preferential GalR2 antagonist M871 were administered over 3days locally into either RN or LC by means of ALZET osmotic minipumps connected to locally implanted infusion cannulas.
null
null
null
3
0
Biomarker
C0017638
Glioma
disease
gliomas
4255
MGMT
O6-methylguanine-DNA methyltransferase
CTD_human
16,033,832
Prognostic significance of O6-methylguanine-DNA methyltransferase determined by promoter hypermethylation and immunohistochemical expression in anaplastic gliomas.
0.262095
Prognostic significance of <span class="gene" id="16033832-0-27-65">O6-methylguanine-DNA methyltransferase</span> determined by promoter hypermethylation and immunohistochemical expression in anaplastic <span class="disease" id="16033832-0-155-162">gliomas</span>.
CTD_human
1
0
Biomarker
C0020456
Hyperglycemia
disease
Hyperglycemia
4846
NOS3
endothelial nitric oxide synthase
CTD_human
11,696,579
Hyperglycemia inhibits endothelial nitric oxide synthase activity by posttranslational modification at the Akt site.
0.207063
<span class="disease" id="11696579-0-0-13">Hyperglycemia</span> inhibits <span class="gene" id="11696579-0-23-56">endothelial nitric oxide synthase</span> activity by posttranslational modification at the Akt site.
CTD_human
1
0
Biomarker
C1510586
Autism Spectrum Disorders
disease
ASD
5101
PCDH9
PCDH9
CTD_human
18,252,227
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
0.200275
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-<span class="gene" id="18252227-8-153-158">PCDH9</span> (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in <span class="disease" id="18252227-8-236-239">ASD</span> susceptibility.
CTD_human
null
null
Negative
MESH:D005910
null
null
glioma
574476
null
miR-520c
null
28,184,932
However, the clinical significance of miR-520c and its biological function in glioma remain largely unknown.
null
null
null
null
null
Negative
MESH:C535468
null
null
copper nanowires
717
null
CO2
null
28,094,953
Herein, we investigate the electrocatalytic activity of ultrathin (diameter 20 nm) 5-fold twinned copper nanowires (Cu NWs) for CO2 reduction.
null
null
null
null
null
Negative
MESH:D009369
null
null
tumor
15977
null
IFNb
null
28,015,893
IFNb-MSC doubled the survival of tumor-bearing mice (p=0.001) while SC injected IFNb was ineffective (p=0.021 vs p=0.4).
null
null
null
4
0
Biomarker
C0036457
Scrapie
disease
Scrapie
5621
PRNP
prion protein
CTD_human
18,717,736
Scrapie infection stimulated Gpc-1 autoprocessing and the generated HS degradation products colocalized with intracellular aggregates of the disease-related scrapie prion protein isoform (PrP(Sc)).
0.201374
<span class="disease" id="18717736-6-0-7">Scrapie</span> infection stimulated Gpc-1 autoprocessing and the generated HS degradation products colocalized with intracellular aggregates of the disease-related scrapie <span class="gene" id="18717736-6-165-178">prion protein</span> isoform (PrP(Sc)).
CTD_human
null
null
Negative
MESH:D009369
null
null
tumor
667435
null
BT-20
null
28,015,256
METHODS: HT-29, LS174T, Moser (human colonic tumor lines), MCA38 and MCA38cea (murine colonic tumor lines), BT-20 (human breast tumor line) were grown in culture.
null
null
null
2
0
Biomarker
C0036996
Short Rib-Polydactyly Syndrome
disease
short-rib polydactyly syndrome
4750
NEK1
NEK1
CTD_human
21,211,617
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
0.200275
<span class="gene" id="21211617-0-0-4">NEK1</span> mutations cause <span class="disease" id="21211617-0-21-51">short-rib polydactyly syndrome</span> type majewski.
CTD_human
null
null
Negative
OMIM:188890
null
null
CSE
81631
null
LC3B
null
28,006,950
In addition, GSNO augmentation inhibits protein misfolding as CSE-induced colocalization of ubiquitinated proteins and LC3B (in autophagy bodies) is significantly reduced by GSNO/N6022 treatment.
null
null
null
1
0
Biomarker
C3714756
Intellectual Disability
group
intellectual disability
1788
DNMT3A
DNMT3A
CTD_human
24,614,070
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
0.200275
Mutations in the DNA methyltransferase gene <span class="gene" id="24614070-0-44-50">DNMT3A</span> cause an overgrowth syndrome with <span class="disease" id="24614070-0-85-108">intellectual disability</span>.
CTD_human
5
3
Biomarker
C0004096
Asthma
disease
asthma
9173
IL1RL1
IL1RL1
CTD_human
19,198,610
A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls).
0.225077
A SNP at <span class="gene" id="19198610-5-9-15">IL1RL1</span> associated with <span class="disease" id="19198610-5-32-38">asthma</span> (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls).
CTD_human
6
0
Biomarker
C0038358
Gastric ulcer
disease
gastric ulcerations
885
CCK
CCK
CTD_human
11,787,760
Leptin, a product of ob gene controlling food intake, has recently been detected in the stomach and shown to be released by CCK and implicated in gastroprotection against various noxious agents but it is unknown whether centrally applied leptin influences ischemia-reperfusion (I/R)-induced gastric erosions that progress into deeper gastric ulcerations.
0.2
Leptin, a product of ob gene controlling food intake, has recently been detected in the stomach and shown to be released by <span class="gene" id="11787760-1-124-127">CCK</span> and implicated in gastroprotection against various noxious agents but it is unknown whether centrally applied leptin influences ischemia-reperfusion (I/R)-induced gastric erosions that progress into deeper <span class="disease" id="11787760-1-334-353">gastric ulcerations</span>.
CTD_human
null
null
Negative
MESH:D003130
null
null
WARs
314322
null
c-Fos
null
28,188,855
Data from inferior colliculus (IC) c-Fos immunohistochemistry and electrographic recordings were gathered for both the control Wistar group and WARs.
null
null
null
null
null
Negative
MESH:D010146
null
null
pain
171056
null
CX3CR1
null
28,028,627
Neuron-microglia crosstalk, mediated by the purinergic P2X7 receptor (R)/fractalkine/CX3CR1 cascade in the spinal cord dorsal horn, plays a pivotal role in pain processing.
null
null
null
null
null
Negative
MESH:D009422
null
null
neuropathy
28508
null
DM2
null
28,138,246
CONCLUSION: Our results indicate a complex association between neuropathy and SRBDs in DM1 and DM2.
null
null
null
96
174
Biomarker
C0019202
Hepatolenticular Degeneration
disease
WD
540
ATP7B
ATP7B
CTD_human
25,134,866
OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells.
0.885769
OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing <span class="gene" id="25134866-4-87-92">ATP7B</span> and the common <span class="disease" id="25134866-4-108-110">WD</span>-causing mutant <span class="gene" id="25134866-4-126-131">ATP7B</span>(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells.
CTD_human;ORPHANET;UNIPROT
4
29
Biomarker
C1970431
PITT-HOPKINS SYNDROME
disease
Pitt-Hopkins syndrome
6925
TCF4
TCF4
CTD_human
17,436,254
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
0.607418
Mutations in <span class="gene" id="17436254-0-13-17">TCF4</span>, encoding a class I basic helix-loop-helix transcription factor, are responsible for <span class="disease" id="17436254-0-103-124">Pitt-Hopkins syndrome</span>, a severe epileptic encephalopathy associated with autonomic dysfunction.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D014947
null
null
injury of mitochondria
574045
null
HNP1
null
28,022,941
Our study also suggests that the damage on cell membranes and injury of mitochondria mediated by HNP1 may provide a new strategy for reverse of chemotherapy resistance.
null
null
null
1
0
Biomarker
C1510586
Autism Spectrum Disorders
disease
ASD
29123
ANKRD11
ANKRD11
CTD_human
18,252,227
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
0.200824
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), <span class="gene" id="18252227-8-178-185">ANKRD11</span>, DPYD, PTCHD1, 15q24, among others, for a role in <span class="disease" id="18252227-8-236-239">ASD</span> susceptibility.
CTD_human
1
0
Biomarker
C0036572
Seizures
phenotype
EXP1
7779
SLC30A1
ZnT-1
CTD_human
23,266,720
Among the total twelve genes, six genes were strongly up- (MT-3, ACAT1, clusterin and ApoE) or down- (ZnT-1 and PRG-3) regulated by developmental seizures (EXP1) compared with that in the CONT1.
0.2
Among the total twelve genes, six genes were strongly up- (MT-3, ACAT1, clusterin and ApoE) or down- (<span class="gene" id="23266720-8-102-107">ZnT-1</span> and PRG-3) regulated by developmental <span class="disease" id="23266720-8-146-154">seizures</span> (<span class="disease" id="23266720-8-156-160">EXP1</span>) compared with that in the CONT1.
CTD_human
null
null
Negative
MESH:D003110
null
null
colon cancer
338399
null
PS 1
null
28,016,662
RESULTS: Two patients (pts) (PS 1; age:72 and 74) with measurable liver metastasis (colon cancer), non measurable but symptomatic bone metastasis (prostate cancer), and elevated baseline PSA values (12.5 and 255 ng/ml) were evaluable for toxicity and response.
null
null
null
20
0
Therapeutic
C0037769
West Syndrome
disease
west syndrome
5443
POMC
ACTH
CTD_human
19,039,989
[Case of west syndrome associated with transient marked sinus dysfunction during ACTH therapy].
0.203022
[Case of <span class="disease" id="19039989-0-9-22">west syndrome</span> associated with transient marked sinus dysfunction during <span class="gene" id="19039989-0-81-85">ACTH</span> therapy].
CTD_human
2
1
Biomarker
C2931788
Atypical Hemolytic Uremic Syndrome
disease
HUS
3075
CFH
FH
CTD_human
14,978,182
Four children with homozygous or heterozygous FH deficiency and HUS underwent renal transplantation, which was successful in three but failed as a result of recurrence of HUS in one patient.
0.315309
Four children with homozygous or heterozygous <span class="gene" id="14978182-5-46-48">FH</span> deficiency and <span class="disease" id="14978182-5-64-67">HUS</span> underwent renal transplantation, which was successful in three but failed as a result of recurrence of <span class="disease" id="14978182-5-171-174">HUS</span> in one patient.
CTD_human
1
0
Biomarker
C0004096
Asthma
disease
asthma
6347
CCL2
MCP-1
CTD_human
19,373,627
These findings suggest a possible role for MCP-1 in the pathogenesis of asthma and a potential role for its use in anti-asthma treatment in the future.
0.214782
These findings suggest a possible role for <span class="gene" id="19373627-10-43-48">MCP-1</span> in the pathogenesis of <span class="disease" id="19373627-10-72-78">asthma</span> and a potential role for its use in anti-<span class="disease" id="19373627-10-120-126">asthma</span> treatment in the future.
CTD_human
1
0
Biomarker
C0149521
Pancreatitis, Chronic
disease
chronic pancreatitis
1357
CPA1
CPA1
CTD_human
23,955,596
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
0.200549
Variants in <span class="gene" id="23955596-0-12-16">CPA1</span> are strongly associated with early onset <span class="disease" id="23955596-0-58-78">chronic pancreatitis</span>.
CTD_human
2
0
Biomarker
C1319853
Asthma, Aspirin-Induced
disease
AIA
5743
PTGS2
COX-2
CTD_human
16,502,481
Several single nucleotide polymorphisms (SNPs) in the promoters of EP2, TBX21, COX-2, Fc epsilon RIbeta, and TBXA2R were associated with AIA, while an Fc epsilon RIalpha promoter polymorphism was associated with AIU.
0.200275
Several single nucleotide polymorphisms (SNPs) in the promoters of EP2, TBX21, <span class="gene" id="16502481-6-79-84">COX-2</span>, Fc epsilon RIbeta, and TBXA2R were associated with <span class="disease" id="16502481-6-137-140">AIA</span>, while an Fc epsilon RIalpha promoter polymorphism was associated with AIU.
CTD_human
1
3
Biomarker
C0206754
Neuroendocrine Tumors
group
neuroendocrine tumors
1027
CDKN1B
CDKN1B
CTD_human
24,185,511
Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.
0.203557
Somatic mutation of <span class="gene" id="24185511-0-20-26">CDKN1B</span> in small intestine <span class="disease" id="24185511-0-46-67">neuroendocrine tumors</span>.
CTD_human
1
0
Biomarker
C0011881
Diabetic Nephropathy
disease
diabetic nephropathy
10628
TXNIP
thioredoxin interacting protein
CTD_human
17,582,205
A possible role of thioredoxin interacting protein in the pathogenesis of streptozotocin-induced diabetic nephropathy.
0.201374
A possible role of <span class="gene" id="17582205-0-19-50">thioredoxin interacting protein</span> in the pathogenesis of streptozotocin-induced <span class="disease" id="17582205-0-97-117">diabetic nephropathy</span>.
CTD_human
null
null
Negative
MESH:D055370
null
null
lung injury
15568
null
ELAVL-1
null
28,196,122
Utilizing ventilator-induced lung injury or intra-tracheal installation of hydrochloric acid to induce ARDS in mice, we observed increased mRNA and protein expression of ELAVL-1/HuR and GSK3b.
null
null
null
null
null
Negative
OMIM:135300
null
null
HGF
4233
null
c-Met
null
28,023,034
Dysregulation of the HGF/c-Met pathway is a rational therapeutic target in AGEC.
null
null
null
null
null
Negative
MESH:D054221
null
null
MDS
84868
null
T-cell immunoglobulin mucin-3
null
28,159,737
Overexpression of several markers such as interleukin-1 (IL-1) receptor accessory protein (IL1RAP), CD99, T-cell immunoglobulin mucin-3, and CD123 have begun to differentiate MDS HSPCs from healthy counterparts.
null
null
null
null
null
Negative
MESH:D053632
null
null
SCID
19225
null
COX-2
null
28,015,089
METHODS: Human lung adenocarcinoma cells expressing EGFR and COX-2 (ATCC-CRL5908) were implanted in the left upper lobe of SCID mice (2*10(6) cells/25uL).
null
null
null
1
0
Biomarker
C0020757
Ichthyoses
disease
ichthyosis
6832
SUPV3L1
Supv3L1
CTD_human
19,145,458
Conditional ablation of Supv3L1 in keratinocytes confirmed atrophic changes in the skin and ichthyosis-like changes.
0.200275
Conditional ablation of <span class="gene" id="19145458-9-24-31">Supv3L1</span> in keratinocytes confirmed atrophic changes in the skin and <span class="disease" id="19145458-9-92-102">ichthyosis</span>-like changes.
CTD_human
null
null
Negative
MESH:D009369
null
null
cancer
9173;292
null
T1/T2
null
28,141,132
METHODS: Using the National Cancer Database (NCDB), we evaluated women who underwent a mastectomy or BCT for T1/T2, any N breast cancer between 1998 and 2011.
null
null
null
2
0
Biomarker
C0028754
Obesity
disease
obesity
5443
POMC
POMC
CTD_human
16,289,378
Decrease in brain POMC mRNA expression and onset of obesity in guinea pigs exposed to 2-chloroethyl ethyl sulfide, a mustard analogue.
0.528115
Decrease in brain <span class="gene" id="16289378-0-18-22">POMC</span> mRNA expression and onset of <span class="disease" id="16289378-0-52-59">obesity</span> in guinea pigs exposed to 2-chloroethyl ethyl sulfide, a mustard analogue.
CTD_human;HPO
null
null
Negative
MESH:D009369
null
null
inha/Tag adrenal tumors
14683
null
Gnas
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
null
null
Negative
MESH:C564286
null
null
zinc deficiency
1432
null
p38 MAPK
null
28,158,919
Administration of SB203580 to HFD mice or specific siRNA in palmitate-treated cardiomyocytes eliminated the HFD and zinc deficiency activation of p38 MAPK, but did not significantly impact the expression of BCL10 and CARD9.
null
null
null
1
0
Biomarker
C0279626
Squamous cell carcinoma of esophagus
disease
ESCC
3872
KRT17
KRT17
CTD_human
21,517,111
Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in ESCC.
0.2
Among these identified proteins, 33 proteins including <span class="gene" id="21517111-5-55-65">keratin 17</span> (<span class="gene" id="21517111-5-67-72">KRT17</span>), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in <span class="disease" id="21517111-5-500-504">ESCC</span>.
CTD_human
null
null
Negative
MESH:D007759
null
null
inner plexiform layer
64396
null
GCL
null
28,135,360
Optical coherence tomography was used to characterize the association between pupillary response characteristics and alterations in retinal architecture, specifically, the thickness of the retinal ganglion cell layer and inner plexiform layer (GCL + IPL).
null
null
null
6
0
Therapeutic
C0038358
Gastric ulcer
disease
gastric ulcer
3952
LEP
leptin
CTD_human
16,015,682
Mechanisms of action of leptin in preventing gastric ulcer.
0.2
Mechanisms of action of <span class="gene" id="16015682-0-24-30">leptin</span> in preventing <span class="disease" id="16015682-0-45-58">gastric ulcer</span>.
CTD_human
null
null
Negative
MESH:C563256
null
null
FCD type Ia
56666
null
Panx2
null
28,036,289
In this study, we investigated the expression of Panx1 and Panx2 in surgical samples from patients with FCD type Ia (FCDIa), type IIa (FCDIIa), and type IIb (FCDIIb) and in age-matched autopsy control samples.
null
null
null
null
null
Negative
MESH:D050197
null
null
atherosclerosis
16835
null
low-density lipoprotein receptor
null
28,062,509
To induce atherosclerosis, mice were crossed onto the low-density lipoprotein receptor (Ldlr)-deficient background.
null
null
null
null
null
Negative
MESH:D018205
null
null
adiposity
11814
null
APOC3
null
28,115,523
APOC3 neither exacerbated diet-induced adiposity nor aggravated the degree of steatosis in high fructose or high fat-fed APOC3-transgenic mice.
null
null
null
28
0
Biomarker
C0007131
Non-Small Cell Lung Carcinoma
disease
non-small-cell lung cancer
238
ALK
ALK
CTD_human
21,933,749
Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: a retrospective analysis.
0.28
Effect of crizotinib on overall survival in patients with advanced <span class="disease" id="21933749-0-67-93">non-small-cell lung cancer</span> harbouring <span class="gene" id="21933749-0-105-108">ALK</span> gene rearrangement: a retrospective analysis.
CTD_human
null
null
Negative
MESH:D001749
null
null
bladder cancer
574058
null
PD-L1
null
28,214,651
Several checkpoint targets (programmed death ligand-1 [PD-L1] programmed cell death protien-1 [PD-1], and cytotoxic T-lymphocyte associated protein 4 [CTLA4]) have received the most attention in the treatment of bladder cancer, and have inhibitor agents either approved or in late-stage development.
null
null
null
1
8
Biomarker
C1843807
Basal ganglia disease, biotin-responsive
disease
Biotin-responsive basal ganglia disease
80704
SLC19A3
SLC19A3
CTD_human
15,871,139
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
0.602747
<span class="disease" id="15871139-0-0-39">Biotin-responsive basal ganglia disease</span> maps to 2q36.3 and is due to mutations in <span class="gene" id="15871139-0-82-89">SLC19A3</span>.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D015456
null
null
B-cell acute lymphoblastic leukemia
56371
null
Fzr1
null
28,143,883
In an Fzr1 gene-trap mouse model of B-cell acute lymphoblastic leukemia (B-ALL), mice with Fzr1-deficient B-ALL survived longer than those with Fzr1-intact disease, and sensitivity of Fzr1-deficient B-ALL cells to DNA damage appeared increased.
null
null
null
1
0
Biomarker
C0022665
Kidney Neoplasm
disease
kidney tumor
1978
EIF4EBP1
4EBP1
CTD_human
21,813,464
The data indicate that Raf-1/MEK/ERK participates in crosstalk with 4EBP1, which represents a novel pathway interaction leading to increased protein synthesis, cell growth, and kidney tumor formation.
0.200275
The data indicate that Raf-1/MEK/ERK participates in crosstalk with <span class="gene" id="21813464-10-68-73">4EBP1</span>, which represents a novel pathway interaction leading to increased protein synthesis, cell growth, and <span class="disease" id="21813464-10-177-189">kidney tumor</span> formation.
CTD_human
null
null
Negative
MESH:D019446
null
null
endotoxemia
16150
null
IKKb
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
2
1
Biomarker
C0009324
Ulcerative Colitis
disease
ulcerative colitis
6774
STAT3
STAT3
CTD_human
18,438,405
Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection.
0.214899
Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and <span class="gene" id="18438405-2-151-156">STAT3</span> were associated only with <span class="disease" id="18438405-2-183-201">ulcerative colitis</span> in our sample collection.
CTD_human
null
null
Negative
MESH:D001862
null
null
bone resorption
17700
null
GDF8
null
28,074,479
Intraperitoneal injection of recombinant GDF8 repressed bone formation and accelerated bone resorption in mice.
null
null
null
null
null
Negative
MESH:D007249
null
null
inflammation
397422
null
CCL2
null
28,013,313
RESULTS: Only severe NEC cases (score of 5-6) were associated with the upregulation of genes involved in inflammation (CCL2, CCL3, CD14, CD163, CXCL8, HP, IL1B, IL1RN, IL6,IL10, NFKBIA, PTGS2 and TNFAIP3) compared to pigs that appeared healthy (score of 1-2) or showed mild NEC (score of 3-4).
null
null
null
null
null
Negative
MESH:D015430
null
null
weight gain
12491
null
fat
null
28,197,827
Phloretin treatment significantly blocks high-fat diet-induced weight gain but did not induce weight loss in obese animals.
null
null
null
null
null
Negative
MESH:D018805
null
null
sepsis
21926
null
TNF-a
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:D009133
null
null
muscle atrophy
81736
null
NF-kB
null
28,009,536
The mRNA expression of NF-kB, muscle atrophy F-box (MAFbx), and muscle ring finger 1 (MuRF1) was upregulated by the LPS challenge in gastrocnemius muscles, but was downregulated by Leu supplementation.
null
null
null
null
null
Negative
MESH:C536528
null
null
LPS
9933
null
PUFA
null
28,125,622
Subjects received n-3 PUFA (n = 8; 3600mg/day EPA/DHA) or matched placebo (n = 6) for 6-8 weeks, before completing an endotoxin challenge (LPS 0.6 ng/kg).
null
null
null
1
0
Biomarker
C0025202
melanoma
disease
melanoma
2776
GNAQ
GNAQ
CTD_human
23,432,625
The mutations, such as those in NRAS, BRAF, GNAQ and GNA11, promote the growth of melanoma cells in most part through the mitogen-activated protein kinase (MAPK) pathway.
0.217581
The mutations, such as those in NRAS, BRAF, <span class="gene" id="23432625-2-44-48">GNAQ</span> and GNA11, promote the growth of <span class="disease" id="23432625-2-82-90">melanoma</span> cells in most part through the mitogen-activated protein kinase (MAPK) pathway.
CTD_human
2
7
Biomarker
C0266313
Allanson Pantzar McLeod syndrome
disease
renal tubular dysgenesis
1636
ACE
angiotensin converting enzyme
CTD_human
16,116,425
We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.
0.601099
We studied 11 individuals with <span class="disease" id="16116425-3-31-55">renal tubular dysgenesis</span>, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, <span class="gene" id="16116425-3-201-230">angiotensin converting enzyme</span> or angiotensin II receptor type 1.
CTD_human;HPO;ORPHANET
null
null
Negative
MESH:D000860
null
null
Hypoxia
15251
null
HIF-1a
null
28,039,264
Hypoxia-inducible factor-1a (HIF-1a) induces the expression of proteins associated with stemness and is highly upregulated in TNBC.
null
null
null
1
0
Biomarker
C0023264
Leigh Disease
disease
Leigh syndrome
4722
NDUFS3
NDUFS3
CTD_human
14,729,820
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
0.400549
Mutant <span class="gene" id="14729820-0-7-13">NDUFS3</span> subunit of mitochondrial complex I causes <span class="disease" id="14729820-0-56-70">Leigh syndrome</span>.
CTD_human;ORPHANET
null
null
Negative
MESH:D015775
null
null
endoplasmic reticulum stress
14824
null
progranulin
null
28,143,512
METHODS: In the present study, progranulin was administered to 3T3-L1 adipocytes and C57BL/6 J mice with/without specific inhibitors of oxidative stress and endoplasmic reticulum stress, and metabolic parameters, oxidative stress, endoplasmic reticulum stress and autophagy markers were assessed.
null
null
null
96
174
Biomarker
C0019202
Hepatolenticular Degeneration
disease
WD
540
ATP7B
ATP7B
CTD_human
11,405,812
After cloning of ATP7B, the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations.
0.885769
After cloning of <span class="gene" id="11405812-2-17-22">ATP7B</span>, the spectrum of mutations and their clinical consequences have been investigated in patients with <span class="disease" id="11405812-2-122-124">WD</span> in different ethnic populations.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
OMIM:168600
null
null
PD
3183;717
null
C1 and 2
null
28,022,973
PBMCs will be collected prior to and during C1 and 2 for PD and PK analyses.
null
null
null
1
4
Biomarker
C0017612
Glaucoma, Open-Angle
disease
open angle glaucoma
100048912
CDKN2B-AS1
CDKN2B-AS1
CTD_human
21,532,571
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
0.200824
Genome-wide association study identifies susceptibility loci for <span class="disease" id="21532571-0-65-84">open angle glaucoma</span> at TMCO1 and <span class="gene" id="21532571-0-98-108">CDKN2B-AS1</span>.
CTD_human
1
0
Biomarker
C0004352
Autistic Disorder
disease
autism
2890
GRIA1
AMPA 1
CTD_human
11,706,102
The mRNA levels of several genes were significantly increased in autism, including excitatory amino acid transporter 1 and glutamate receptor AMPA 1, two members of the glutamate system.
0.2
The mRNA levels of several genes were significantly increased in <span class="disease" id="11706102-7-65-71">autism</span>, including excitatory amino acid transporter 1 and glutamate receptor <span class="gene" id="11706102-7-142-148">AMPA 1</span>, two members of the glutamate system.
CTD_human
3
0
Biomarker
C0003123
Anorexia
disease
anorectic
4852
NPY
NPY
CTD_human
16,084,549
To determine if c-fos or c-jun was involved in the anorectic response of AMPH, infusions of antisense oligonucleotide into the brain were performed at 1 h before daily AMPH treatment in freely moving rats, and the results showed that c-fos or c-jun knockdown could block this anorectic response and restore NPY mRNA level.
0.281923
To determine if c-fos or c-jun was involved in the <span class="disease" id="16084549-5-51-60">anorectic</span> response of AMPH, infusions of antisense oligonucleotide into the brain were performed at 1 h before daily AMPH treatment in freely moving rats, and the results showed that c-fos or c-jun knockdown could block this <span class="disease" id="16084549-5-276-285">anorectic</span> response and restore <span class="gene" id="16084549-5-307-310">NPY</span> mRNA level.
CTD_human
1
0
Biomarker
C0030567
Parkinson Disease
disease
PD
4803
NGF
nerve growth factor
CTD_human
19,276,553
IGF-I and IGF-II resistance was present in DLB but not PD frontal cortex, and associated with reduced expression of Hu, nerve growth factor, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity.
0.200824
IGF-I and IGF-II resistance was present in DLB but not <span class="disease" id="19276553-4-55-57">PD</span> frontal cortex, and associated with reduced expression of Hu, <span class="gene" id="19276553-4-120-139">nerve growth factor</span>, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity.
CTD_human
1
0
Biomarker
C0023467
Leukemia, Myelocytic, Acute
disease
AML
1978
EIF4EBP1
4E-BP1
CTD_human
19,458,359
We identified the Pim-2 serine/threonine kinase as mainly responsible for 4E-BP1 phosphorylation on the S(65) residue and subsequent translation control in AML.
0.201923
We identified the Pim-2 serine/threonine kinase as mainly responsible for <span class="gene" id="19458359-7-74-80">4E-BP1</span> phosphorylation on the S(65) residue and subsequent translation control in <span class="disease" id="19458359-7-156-159">AML</span>.
CTD_human
1
0
Biomarker
C1458155
Mammary Neoplasms
group
breast tumours
1364
CLDN4
claudin-4
CTD_human
19,142,967
This relationship between increased claudin-4 expression and adverse outcome was validated at the mRNA level in a DNA microarray dataset of 295 breast tumours.
0.200549
This relationship between increased <span class="gene" id="19142967-9-36-45">claudin-4</span> expression and adverse outcome was validated at the mRNA level in a DNA microarray dataset of 295 <span class="disease" id="19142967-9-144-158">breast tumours</span>.
CTD_human
null
null
Negative
MESH:D009103
null
null
MS
6697
null
SPR
null
28,132,898
After luciferase reporter assays revealed that the G-quadruplex could inhibit the activity of the FGFR2 promoter, MS and SPR showed binding affinity and selectivity of the ligand.
null
null
null
1
1
Biomarker
C0030305
Pancreatitis
disease
pancreatitis
5644
PRSS1
PRSS1
CTD_human
23,143,602
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
0.494169
Common genetic variants in the CLDN2 and <span class="gene" id="23143602-0-41-46">PRSS1</span>-PRSS2 loci alter risk for alcohol-related and sporadic <span class="disease" id="23143602-0-102-114">pancreatitis</span>.
CTD_human;HPO
24
0
Biomarker
C0002736
Amyotrophic Lateral Sclerosis
disease
amyotrophic lateral sclerosis
6647
SOD1
SOD1
CTD_human
11,590,119
Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans.
0.798512
Oxidative stress causes abnormal accumulation of familial <span class="disease" id="11590119-0-58-87">amyotrophic lateral sclerosis</span>-related mutant <span class="gene" id="11590119-0-103-107">SOD1</span> in transgenic Caenorhabditis elegans.
CTD_human;HPO;ORPHANET
7
0
Biomarker
C0011581
Depressive disorder
disease
depression
4852
NPY
NPY
CTD_human
17,572,454
The data support our hypothesis that the NPY system dysregulation constitutes one of the biological underpinnings of depression and that one common mechanism of action of antidepressive treatment modalities may be effects on NPY and its receptors.
0.483571
The data support our hypothesis that the <span class="gene" id="17572454-9-41-44">NPY</span> system dysregulation constitutes one of the biological underpinnings of <span class="disease" id="17572454-9-117-127">depression</span> and that one common mechanism of action of antidepressive treatment modalities may be effects on <span class="gene" id="17572454-9-225-228">NPY</span> and its receptors.
CTD_human;PSYGENET
2
0
Biomarker
C2239176
Liver carcinoma
disease
hepatocellular carcinomas
598
BCL2L1
bcl-xs
CTD_human
11,509,945
To examine the effect of the bcl-xs gene on the sequence from hepatic precancerous lesions, foci and neoplastic nodules, to hepatocellular carcinomas, Sprague-Dawley rats were given water containing 175 mg/l N-nitrosomorpholine (NNM) for 8 weeks.
0.213679
To examine the effect of the <span class="gene" id="11509945-1-29-35">bcl-xs</span> gene on the sequence from hepatic precancerous lesions, foci and neoplastic nodules, to <span class="disease" id="11509945-1-124-149">hepatocellular carcinomas</span>, Sprague-Dawley rats were given water containing 175 mg/l N-nitrosomorpholine (NNM) for 8 weeks.
CTD_human
4
0
Biomarker
C0030297
Pancreatic Neoplasm
disease
pancreatic tumor
5743
PTGS2
COX-2
CTD_human
15,705,899
These findings imply that assessing the COX-2 profile of the pancreatic tumor is mandatory before initiating therapy with a selective COX-2 inhibitor.
0.214112
These findings imply that assessing the <span class="gene" id="15705899-14-40-45">COX-2</span> profile of the <span class="disease" id="15705899-14-61-77">pancreatic tumor</span> is mandatory before initiating therapy with a selective <span class="gene" id="15705899-14-134-139">COX-2</span> inhibitor.
CTD_human
1
0
Biomarker
C1263846
Attention deficit hyperactivity disorder
disease
ADHD
1312
COMT
COMT
CTD_human
10,490,706
Haplotype relative risk study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD): association of the high-enzyme activity Val allele with ADHD impulsive-hyperactive phenotype.
0.457338
Haplotype relative risk study of <span class="gene" id="10490706-0-33-61">catechol-O-methyltransferase</span> (<span class="gene" id="10490706-0-63-67">COMT</span>) and <span class="disease" id="10490706-0-73-113">attention deficit hyperactivity disorder</span> (<span class="disease" id="10490706-0-115-119">ADHD</span>): association of the high-enzyme activity Val allele with <span class="disease" id="10490706-0-178-182">ADHD</span> impulsive-hyperactive phenotype.
CTD_human;HPO
null
null
Negative
MESH:D012163
null
null
bracket detachment
717
null
CO2
null
28,140,147
All polycrystalline brackets debonded with the CO2 laser resulted in a complete bracket detachment without bracket failure.
null
null
null
1
0
Biomarker
C0004153
Atherosclerosis
disease
atherosclerosis
196
AHR
aryl hydrocarbon receptor
CTD_human
22,228,805
Inherent and benzo[a]pyrene-induced differential aryl hydrocarbon receptor signaling greatly affects life span, atherosclerosis, cardiac gene expression, and body and heart growth in mice.
0.200824
Inherent and benzo[a]pyrene-induced differential <span class="gene" id="22228805-0-49-74">aryl hydrocarbon receptor</span> signaling greatly affects life span, <span class="disease" id="22228805-0-112-127">atherosclerosis</span>, cardiac gene expression, and body and heart growth in mice.
CTD_human
1
0
Biomarker
C0265202
Seckel syndrome
disease
Seckel syndrome
5116
PCNT
pericentrin
CTD_human
18,157,127
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
0.401374
Mutations in <span class="gene" id="18157127-0-13-24">pericentrin</span> cause <span class="disease" id="18157127-0-31-46">Seckel syndrome</span> with defective ATR-dependent DNA damage signaling.
CTD_human;ORPHANET
1
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
2796
GNRH1
LHRH
CTD_human
6,350,720
In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.
0.2
In addition, intraventricular administration of TRH, <span class="gene" id="6350720-5-53-57">LHRH</span> or LH caused tachycardia, <span class="disease" id="6350720-5-84-96">hypertension</span> and a reduction in the epinephrine-induced reflex bradycardia.
CTD_human
35
84
Biomarker
C0022716
Menkes Kinky Hair Syndrome
disease
MD
538
ATP7A
ATP7A
CTD_human
22,728,746
Menkes disease (MD) is a disorder of copper transport caused by ATP7A mutations.
0.727934
<span class="disease" id="22728746-1-0-14">Menkes disease</span> (<span class="disease" id="22728746-1-16-18">MD</span>) is a disorder of copper transport caused by <span class="gene" id="22728746-1-64-69">ATP7A</span> mutations.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D009223
null
null
DM2
28509
null
DM1
null
28,210,870
METHODS: Three hundred and forty-five people with diabetes mellitus type 2 (DM2, n = 336, 229 without and 107 with insulin therapy) and type 1 (DM1, n = 9) were interviewed with the PAID questionnaire in the period from 1 October 2015 to 31 December 2015 in a general practice.
null
null
null
null
null
Negative
MESH:D010024
null
null
postmenopausal osteoporosis
21926
null
TNF-a
null
28,002,602
Furthermore, APS also markedly reduced osteocalcin and TNF-a concentration in OVX-induced postmenopausal osteoporosis mice model.
null
null
null
35
84
Biomarker
C0022716
Menkes Kinky Hair Syndrome
disease
Menkes disease
538
ATP7A
ATP7A
CTD_human
21,667,063
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
0.727934
The copper-transporting capacity of <span class="gene" id="21667063-0-36-41">ATP7A</span> mutants associated with <span class="disease" id="21667063-0-66-80">Menkes disease</span> is ameliorated by COMMD1 as a result of improved protein expression.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D014657
null
null
Kawasaki disease vasculitis
216799
null
NLRP3
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:D004802
null
null
eosinophilia
216799
null
NLRP3
null
28,194,433
This correlated with blunted induction of NF-kB, the NLRP3 inflammasome, and eosinophilia in transgenic mice.
null
null
null
1
0
Biomarker
C0948089
Acute Coronary Syndrome
disease
ACS
7431
VIM
vimentin
CTD_human
21,751,358
The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, ?-tubulin, ?-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.
0.2
The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, &beta;-tubulin, &alpha;-tubulin isotypes 1 and 2, vinculin, <span class="gene" id="21751358-4-135-143">vimentin</span> and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from <span class="disease" id="21751358-4-492-495">ACS</span> patients compared to CAD patients.
CTD_human
null
null
Negative
MESH:D011125
null
null
APC
23635
null
SSBP2
null
28,147,335
MATERIALS AND METHODS: Sixteen primary matched tumor and serum were analyzed by quantitative methylation specific PCR (QMSP) to determine analytical and clinical sensitivity of the genes tested (SSBP2, MCAM, ERa, ERb, APC, CCND2, MGMT, GSTP1, p16 and RARb2).
null
null
null
1
0
Biomarker
C0028754
Obesity
disease
obesity
2778
GNAS
GNAS
CTD_human
17,062,894
The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome.
0.401923
The CC genotype of the <span class="gene" id="17062894-0-23-27">GNAS</span> T393C polymorphism is associated with <span class="disease" id="17062894-0-66-73">obesity</span> and insulin resistance in women with polycystic ovary syndrome.
CTD_human;HPO
null
null
Negative
MESH:C537354
null
null
ND
11450
null
adiponectin
null
28,170,448
HFD-fed mice showed higher serum concentrations of leptin (P < 0.001) and insulin (P < 0.01) than those in the ND group, whereas serum IGF-1 and adiponectin concentrations did not differ between the two dietary groups.
null
null
null
null
null
Negative
OMIM:604588
null
null
mitosis
2324
null
VEGFR3
null
28,004,478
CS2164 inhibited the angiogenesis-related kinases (VEGFR2, VEGFR1, VEGFR3, PDGFRa and c-Kit), mitosis-related kinase Aurora B and chronic inflammation-related kinase CSF-1R in a high potency manner with the IC50 at a single-digit nanomolar range.
null
null
null
null
null
Negative
MESH:D009369
null
null
primary tumors
16728
null
L1CAM
null
28,022,953
One of these, L1CAM, a neuronal cell adhesion molecule involved in axon motility and tracking, was upregulated 1.6-fold in the brain metastases relative to the primary tumors (p= 0.037).
null
null
null
1
0
Biomarker
C0345967
Malignant mesothelioma
disease
malignant mesothelioma
794
CALB2
calretinin
CTD_human
22,784,439
Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, ?-catenin, melan-A, glucose transporter-1, cytokeratin CAM5.2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma.
0.201374
Immunohistochemical analysis for epithelial membrane antigen, <span class="gene" id="22784439-5-62-72">calretinin</span>, vimentin, &beta;-catenin, melan-A, glucose transporter-1, cytokeratin CAM5.2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of <span class="disease" id="22784439-5-264-286">malignant mesothelioma</span>.
CTD_human
null
null
Negative
MESH:D014842
null
null
von Willebrand
1351
null
VIII
null
28,043,678
We have examined the association between the coagulation markers fibrinogen, von Willebrand Factor (VWF), Factors VII, VIII and IX, D-dimer, activated protein C (APC) and activated partial thromboplastin time (aPPT) with NT-proBNP and incident HF.
null
null
null