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6
11
Biomarker
C0917796
Optic Atrophy, Hereditary, Leber
disease
Leber's hereditary optic neuropathy
4535
ND1
ND1
CTD_human
15,505,787
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
0.612166
The <span class="gene" id="15505787-0-4-7">ND1</span> gene of complex I is a mutational hot spot for <span class="disease" id="15505787-0-55-90">Leber's hereditary optic neuropathy</span>.
CTD_human;HPO;ORPHANET;UNIPROT
null
null
Negative
MESH:D050197
null
null
atherosclerosis
11303
null
ABCA1
null
28,069,546
The results provide a strong rationale for G004 to be an efficient anti-atherosclerosis agent that improved vascular endothelial dysfunction by stimulating SIRT1/eNOS and promoted RCT by stimulating SIRT1/LXRa/ABCA1/G1.
null
null
null
null
null
Negative
MESH:C563733
null
null
carotid intima-media thickness
404677
null
CIMT
null
28,137,492
METHODS: We searched PUBMED, EMBASE for studies published before Aug 1st, 2016, on the association between COPD and carotid intima-media thickness (CIMT), prevalence of carotid plaques, flow-mediated dilation (FMD), pulse-wave velocity (PWV) and augmentation index (AIx).
null
null
null
1
0
Biomarker
C0598608
Hyperhomocysteinemia
disease
hyperhomocysteinemia
7124
TNF
tumor necrosis factor-alpha
CTD_human
12,615,666
Increased superoxide production in coronary arteries in hyperhomocysteinemia: role of tumor necrosis factor-alpha, NAD(P)H oxidase, and inducible nitric oxide synthase.
0.2
Increased superoxide production in coronary arteries in <span class="disease" id="12615666-0-56-76">hyperhomocysteinemia</span>: role of <span class="gene" id="12615666-0-86-113">tumor necrosis factor-alpha</span>, NAD(P)H oxidase, and inducible nitric oxide synthase.
CTD_human
1
1
Biomarker
C0242383
Age related macular degeneration
disease
AMD
8797
TNFRSF10A
TNFRSF10A
CTD_human
21,909,106
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).
0.200824
In addition to CFH (rs800292, P = 4.23 &times; 10(-15)) and ARMS2 (rs3750847, P = 8.67 &times; 10(-29)) loci, we identified two new susceptibility loci for exudative <span class="disease" id="21909106-3-154-157">AMD</span>: <span class="gene" id="21909106-3-159-168">TNFRSF10A</span>-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 &times; 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 &times; 10(-8), odds ratio = 1.30).
CTD_human
null
null
Negative
MESH:D005235
null
null
non-alcoholic steatohepatitis
19013
null
PPARA
null
28,077,274
2) Expression of PPARA in human liver is reduced in patients with non-alcoholic steatohepatitis or infected with the hepatitis C virus.
null
null
null
15
12
Biomarker
C0342549
Familial Testotoxicosis
disease
peripheral precocious puberty
3973
LHCGR
LHCGR
CTD_human
26,831,561
We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T).
0.608176
We report here two patients who presented with <span class="disease" id="26831561-5-47-76">peripheral precocious puberty</span> and an activating mutation in the <span class="gene" id="26831561-5-111-116">LHCGR</span> gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G&gt;T).
CTD_human;ORPHANET;UNIPROT
1
0
Biomarker
C0027627
Neoplasm Metastasis
phenotype
metastasis
5829
PXN
paxillin
CTD_human
18,492,274
Transfection produced a modest reduction on metastatic potential, indicating that: i) paxillin plays a role as inducer of melanoma metastasis; and ii) paxillin downregulation is not sufficient to explain the antimetastatic effect of 4-HC.
0.20467
Transfection produced a modest reduction on metastatic potential, indicating that: i) <span class="gene" id="18492274-13-86-94">paxillin</span> plays a role as inducer of melanoma <span class="disease" id="18492274-13-131-141">metastasis</span>; and ii) <span class="gene" id="18492274-13-151-159">paxillin</span> downregulation is not sufficient to explain the antimetastatic effect of 4-HC.
CTD_human
null
null
Negative
MESH:C562790
null
null
HCA2
3569
null
IL-6
null
28,186,140
We found that proinflammatory stimulants LPS, IL-6 and IL-1b up-regulated the expression of HCA2 on macrophages.
null
null
null
null
null
Negative
MESH:C537409
null
null
X-linked agammaglobulinemia
7097
null
TLR2
null
28,095,323
Altered TLR responses to TLR2 and 4 agonists are seen in chronic granulomatous disease (CGD) and X-linked agammaglobulinemia (XLA).
null
null
null
1
0
Biomarker
C0034067
Pulmonary Emphysema
disease
emphysema
3694
ITGB6
Itgb6
CTD_human
12,634,787
Here we report that Itgb6-null mice develop age-related emphysema that is completely abrogated either by transgenic expression of versions of the beta6 integrin subunit that support TGF-beta activation, or by the loss of Mmp12.
0.200824
Here we report that <span class="gene" id="12634787-4-20-25">Itgb6</span>-null mice develop age-related <span class="disease" id="12634787-4-56-65">emphysema</span> that is completely abrogated either by transgenic expression of versions of the beta6 integrin subunit that support TGF-beta activation, or by the loss of Mmp12.
CTD_human
null
null
Negative
MESH:D014929
null
null
Wolfram syndrome
493856
null
Miner1
null
28,082,676
Miner2 is a member of a new CDGSH iron-sulfur protein family that also includes two mitochondrial proteins: the type II diabetes-related mitoNEET and the Wolfram syndrome 2-linked Miner1.
null
null
null
1
0
Biomarker
C0007192
Cardiomyopathy, Alcoholic
disease
alcoholic cardiomyopathy
183
AGT
angiotensin II
CTD_human
22,497,828
Alcohol-induced nitrative stress and apoptosis, which are mediated by angiotensin II interaction with AT1 and subsequent activation of a PKC-?1-dependent NOX pathway, are a causal factor in the development of alcoholic cardiomyopathy.
0.2
Alcohol-induced nitrative stress and apoptosis, which are mediated by <span class="gene" id="22497828-13-70-84">angiotensin II</span> interaction with AT1 and subsequent activation of a PKC-&beta;1-dependent NOX pathway, are a causal factor in the development of <span class="disease" id="22497828-13-209-233">alcoholic cardiomyopathy</span>.
CTD_human
null
null
Negative
MESH:D011654
null
null
pulmonary edema
303413
null
myeloperoxidase
null
28,189,055
Afterwards, the influence of dopamine on histological changes, pulmonary edema, the lung wet/dry (W/D) ratio, myeloperoxidase (MPO) activity, polymorphonuclear(PMN)counts, inflammatory cytokine levels, and NLRP3 inflammasome protein expression were examined.
null
null
null
null
null
Negative
MESH:D030342
null
null
molecular dynamics
8654
null
PDE5
null
28,150,511
Moreover, molecular dynamics (MD) simulations of selected hits complexed with PDE5 and off-targets were performed in order to get insights for structural and dynamical behaviors of the selected molecules as selective PDE5 inhibitors.
null
null
null
1
0
Biomarker
C0038220
Status Epilepticus
disease
SE
2185
PTK2B
Pyk2
CTD_human
16,600,505
The onset of SE was accompanied by activation of Src-family tyrosine kinases and Pyk2 in the post-synaptic density, consistent with a role for these enzymes in SE-induced tyrosine phosphorylation.
0.2
The onset of <span class="disease" id="16600505-6-13-15">SE</span> was accompanied by activation of Src-family tyrosine kinases and <span class="gene" id="16600505-6-81-85">Pyk2</span> in the post-synaptic density, consistent with a role for these enzymes in <span class="disease" id="16600505-6-160-162">SE</span>-induced tyrosine phosphorylation.
CTD_human
2
0
Biomarker
C0027627
Neoplasm Metastasis
phenotype
metastatic cancer
4638
MYLK
MLCK
CTD_human
12,970,723
Dependence of metastatic cancer cell invasion on MLCK-catalyzed phosphorylation of myosin regulatory light chain.
0.200549
Dependence of <span class="disease" id="12970723-0-14-31">metastatic cancer</span> cell invasion on <span class="gene" id="12970723-0-49-53">MLCK</span>-catalyzed phosphorylation of myosin regulatory light chain.
CTD_human
null
null
Negative
MESH:D005729
null
null
pituitary gangliocytoma
4221
null
MEN1
null
28,079,577
Herein we present a unique case of a pituitary gangliocytoma associated with a prolactinoma and a corticotroph adenoma in a patient affected by MEN1.
null
null
null
1
0
Biomarker
C0026010
Microphthalmos
disease
microphthalmia
5309
PITX3
PITX3
CTD_human
16,565,358
Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment.
0.401099
Also studied were two siblings who were homozygous for the <span class="gene" id="16565358-3-59-64">PITX3</span> mutation who had <span class="disease" id="16565358-3-82-96">microphthalmia</span> and significant neurologic impairment.
CTD_human;HPO
1
0
Biomarker
C2931822
Nasopharyngeal carcinoma
disease
NPC
4313
MMP2
matrix metalloproteinase 2
CTD_human
20,461,718
The results showed that serum levels of all the four proteins were indeed higher in NPC patients versus healthy controls and that the use of a three-marker panel (cystatin A, manganese superoxide dismutase and matrix metalloproteinase 2) can contribute to a better NPC detection than each marker alone.
0.204396
The results showed that serum levels of all the four proteins were indeed higher in <span class="disease" id="20461718-4-84-87">NPC</span> patients versus healthy controls and that the use of a three-marker panel (cystatin A, manganese superoxide dismutase and <span class="gene" id="20461718-4-210-236">matrix metalloproteinase 2</span>) can contribute to a better <span class="disease" id="20461718-4-265-268">NPC</span> detection than each marker alone.
CTD_human
null
null
Negative
MESH:C567932
null
null
OS
28907
null
B-2
null
28,023,383
Patients which over-expressed both EGFR and C-erb B-2 fared worse in terms of OS (p=0.001)and DFS(p=0.002) due to additive effect of the prognostic power.
null
null
null
3
12
Biomarker
C0011860
Diabetes Mellitus, Non-Insulin-Dependent
disease
type 2 diabetes
54901
CDKAL1
CDKAL1
CTD_human
17,460,697
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
0.382528
A variant in <span class="gene" id="17460697-0-13-19">CDKAL1</span> influences insulin response and risk of <span class="disease" id="17460697-0-60-75">type 2 diabetes</span>.
CTD_human
1
0
Biomarker
C0023467
Leukemia, Myelocytic, Acute
disease
AML
10125
RASGRP1
Rasgrp1
CTD_human
21,441,929
We identified such mutations using a Sleeping Beauty transposon, which caused rapid-onset AML in 80% of mice with Npm1c, associated with mutually exclusive integrations in Csf2, Flt3 or Rasgrp1 in 55 of 70 leukemias.
0.200824
We identified such mutations using a Sleeping Beauty transposon, which caused rapid-onset <span class="disease" id="21441929-5-90-93">AML</span> in 80% of mice with Npm1c, associated with mutually exclusive integrations in Csf2, Flt3 or <span class="gene" id="21441929-5-186-193">Rasgrp1</span> in 55 of 70 leukemias.
CTD_human
1
0
Biomarker
C1961099
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease
T-cell acute lymphoblastic leukemia
4849
CNOT3
CNOT3
CTD_human
23,263,491
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.
0.200275
Exome sequencing identifies mutation in <span class="gene" id="23263491-0-40-45">CNOT3</span> and ribosomal genes RPL5 and RPL10 in <span class="disease" id="23263491-0-84-119">T-cell acute lymphoblastic leukemia</span>.
CTD_human
3
0
Therapeutic
C0036572
Seizures
phenotype
seizures
6750
SST
somatostatin
CTD_human
16,771,832
Involvement of the somatostatin-2 receptor in the anti-convulsant effect of angiotensin IV against pilocarpine-induced limbic seizures in rats.
0.200549
Involvement of the <span class="gene" id="16771832-0-19-31">somatostatin</span>-2 receptor in the anti-convulsant effect of angiotensin IV against pilocarpine-induced limbic <span class="disease" id="16771832-0-126-134">seizures</span> in rats.
CTD_human
7
0
Therapeutic
C0242422
Parkinsonian Disorders
group
parkinsonism
5071
PARK2
PARK2
CTD_human
12,764,051
Mutations in the parkin gene, PARK2, are a common cause of parkinsonism in familial as well as isolated cases with an age of onset <40 years and should be considered in the diagnostic work up of young-onset parkinsonism.
0.4517
Mutations in the <span class="gene" id="12764051-1-17-23">parkin</span> gene, <span class="gene" id="12764051-1-30-35">PARK2</span>, are a common cause of <span class="disease" id="12764051-1-59-71">parkinsonism</span> in familial as well as isolated cases with an age of onset &lt;40 years and should be considered in the diagnostic work up of young-onset <span class="disease" id="12764051-1-207-219">parkinsonism</span>.
CTD_human;HPO
1
0
Biomarker
C0004352
Autistic Disorder
disease
autism
7432
VIP
VIP
CTD_human
17,521,630
The current study examined the blockage of VIP during embryogenesis as a model for the behavioral deficits of autism.
0.200275
The current study examined the blockage of <span class="gene" id="17521630-5-43-46">VIP</span> during embryogenesis as a model for the behavioral deficits of <span class="disease" id="17521630-5-110-116">autism</span>.
CTD_human
null
null
Negative
MESH:D030361
null
null
HPV infections
5506
null
RG1
null
28,056,100
In conclusion, RG1-based VLP are promising next generation vaccine candidates to target cutaneous HPV infections.
null
null
null
9
52
Biomarker
C0238052
Xanthomatosis, Cerebrotendinous
disease
cerebrotendinous xanthomatosis
1593
CYP27A1
sterol 27-hydroxylase
CTD_human
17,444,890
Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.
0.638911
Unique patient with <span class="disease" id="17444890-0-20-50">cerebrotendinous xanthomatosis</span>. Evidence for presence of a defect in a gene that is not identical to <span class="gene" id="17444890-0-121-142">sterol 27-hydroxylase</span>.
CTD_human;ORPHANET;UNIPROT
12
0
Therapeutic
C0027947
Neutropenia
disease
neutropenia
1440
CSF3
granulocyte colony-stimulating factor
CTD_human
16,761,898
Sulfur mustard-induced neutropenia: treatment with granulocyte colony-stimulating factor.
0.21537
Sulfur mustard-induced <span class="disease" id="16761898-0-23-34">neutropenia</span>: treatment with <span class="gene" id="16761898-0-51-88">granulocyte colony-stimulating factor</span>.
CTD_human
null
null
Negative
MESH:D001859
null
null
CIBP
171209
null
ASIC3
null
28,103,434
Expression of TRPV1, TRPV4, ASIC1, ASIC2, and ASIC3 in the CIBP with quetiapine treatment group was significantly lower than that in the CIBP group.
null
null
null
1
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
111
ADCY5
AC V
CTD_human
12,717,102
To assess the contributions of hypertension, left ventricular hypertrophy (LVH), the renin-angiotensin-aldosterone system (RAS), and the sympathetic nervous system to these changes, ventricular expression of AC V mRNA was measured at different ages in spontaneously hypertensive rats (SHRs).
0.2
To assess the contributions of <span class="disease" id="12717102-4-31-43">hypertension</span>, left ventricular hypertrophy (LVH), the renin-angiotensin-aldosterone system (RAS), and the sympathetic nervous system to these changes, ventricular expression of <span class="gene" id="12717102-4-208-212">AC V</span> mRNA was measured at different ages in spontaneously hypertensive rats (SHRs).
CTD_human
null
null
Negative
MESH:D030342
null
null
autosomal recessively inherited leukodystrophy
118454
null
Cx47
null
28,100,454
Pelizaeus-Merzbacher-like disease or hypomyelinating leukodystrophy-2 is an autosomal recessively inherited leukodystrophy with childhood onset resulting from mutations in the gene encoding the gap junction protein connexin 47 (Cx47, encoded by GJC2).
null
null
null
1
0
Biomarker
C0271650
Impaired glucose tolerance
phenotype
glucose intolerance
948
CD36
Cd36
CTD_human
14,640,889
Transgenic expression of Cd36 in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and glucose intolerance but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.
0.203557
Transgenic expression of <span class="gene" id="14640889-5-25-29">Cd36</span> in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and <span class="disease" id="14640889-5-149-168">glucose intolerance</span> but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.
CTD_human
null
null
Negative
MESH:D009360
null
null
AMOC
717
null
CO2
null
28,070,560
By correcting the model biases, we show that the AMOC collapses 300 years after the atmospheric CO2 concentration is abruptly doubled from the 1990 level.
null
null
null
2
23
Biomarker
C0028326
Noonan Syndrome
disease
Noonan syndrome
6654
SOS1
SOS1
CTD_human
17,603,483
Increased RAS signaling owing to PTPN11, SOS1 and KRAS mutations causes approximately 60% of Noonan syndrome cases, and PTPN11 mutations cause 90% of LEOPARD syndrome cases.
0.433616
Increased RAS signaling owing to PTPN11, <span class="gene" id="17603483-2-41-45">SOS1</span> and KRAS mutations causes approximately 60% of <span class="disease" id="17603483-2-93-108">Noonan syndrome</span> cases, and PTPN11 mutations cause 90% of LEOPARD syndrome cases.
CTD_human;ORPHANET
null
null
Negative
MESH:D002277
null
null
mammary carcinoma
17975
null
nucleolin
null
28,028,501
In this study, AS1411 aptamer was conjugated to Fe3O4@Au nanoparticles for specific targeting of mouse mammary carcinoma (4T1) cells that overexpress nucleolin.
null
null
null
null
null
Negative
MESH:D015493
null
null
Tropical Spastic Paraparesis
7057
null
HAM/TSP
null
28,040,482
HTLV-1 is the causal agent of Adult T cell Leukemia/lymphoma (ATLL) and HTLV-1-associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP).
null
null
null
null
null
Negative
MESH:D016778
null
null
falciparum
84717
null
hrp2
null
28,177,502
Deletions of the Plasmodium falciparum hrp2 (pfhrp2) gene cause false-negative RDT results and have never been investigated on a national level.
null
null
null
null
null
Negative
MESH:D009369
null
null
tumor
2768677
null
p53
null
28,049,824
The function of tumor suppressor p53 has been under intense investigation.
null
null
null
null
null
Negative
MESH:D062788
null
null
adenomyosis
2796
null
gonadotropin-releasing hormone
null
28,057,126
Objective: To investigate the value of using gonadotropin-releasing hormone agonist (GnRH-a) pretreatment in adenomyosis patients before adenomyomectomy.
null
null
null
null
null
Negative
MESH:D018487
null
null
decreases left ventricular fibrosis
26395;26396
null
MEK1/2
null
28,011,205
In these mice, this novel MEK1/2 inhibitor is well tolerated, improves left ventricular systolic function, decreases left ventricular fibrosis, has beneficial effects on skeletal muscle structure and pathology and prolongs survival.
null
null
null
null
null
Negative
MESH:D000377
null
null
time-of-flight
55079
null
TOF
null
28,062,597
The purpose of this study was to evaluate the effect of susceptibility artifacts related to metallic implants on adjacent metabolically active lesions in clinical simultaneous PET/MR scanning for both time-of-flight (TOF) and non-TOF reconstructed PET images.
null
null
null
null
null
Negative
MESH:C566250
null
null
AIP
6822
null
DHEAS
null
28,095,038
ABBREVIATIONS: ACA = adrenocortical adenoma ACC = adrenocortical carcinoma AIP = aryl hydrocarbon receptor-interacting protein DHEAS = dehydroepiandrosterone sulfate; GH growth hormone PASAT = pure androgen-secreting adrenal tumor.
null
null
null
1
0
Therapeutic
C0020437
Hypercalcemia
disease
hypercalcemia
799
CALCR
Calcitonin receptor
CTD_human
18,627,265
Calcitonin receptor plays a physiological role to protect against hypercalcemia in mice.
0.200275
<span class="gene" id="18627265-0-0-19">Calcitonin receptor</span> plays a physiological role to protect against <span class="disease" id="18627265-0-66-79">hypercalcemia</span> in mice.
CTD_human
35
84
Biomarker
C0022716
Menkes Kinky Hair Syndrome
disease
Menkes disease
538
ATP7A
Atp7a
CTD_human
22,815,746
Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC).
0.727934
Prenatal treatment of mosaic mice (<span class="gene" id="22815746-0-35-40">Atp7a</span> mo-ms) mouse model for <span class="disease" id="22815746-0-64-78">Menkes disease</span>, with copper combined by dimethyldithiocarbamate (DMDTC).
CTD_human;ORPHANET;UNIPROT
1
0
Biomarker
C0025500
Mesothelioma
disease
mesotheliomas
2662
GDF10
BMP3b
CTD_human
18,949,431
The aberrant promoter methylation of BMP3b and BMP6 in malignant pleural mesotheliomas.
0.203008
The aberrant promoter methylation of <span class="gene" id="18949431-0-37-42">BMP3b</span> and BMP6 in malignant pleural <span class="disease" id="18949431-0-73-86">mesotheliomas</span>.
CTD_human
null
null
Negative
MESH:C538248
null
null
cerebral amyloidosis
11820
null
APP
null
28,070,672
Consistent with the human data, subsequent analyses using the APPswe/PS1 E9 (APP/PS1) mouse model of cerebral amyloidosis show that PGRN deficiency has no exacerbating effects on Ab pathology.
null
null
null
2
0
Biomarker
C0010308
Congenital Hypothyroidism
disease
CH
50506
DUOX2
DUOX2
CTD_human
16,134,168
Only one study reported mutations in DUOX2 gene in congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients.
0.414532
Only one study reported mutations in <span class="gene" id="16134168-2-37-42">DUOX2</span> gene in <span class="disease" id="16134168-2-51-76">congenital hypothyroidism</span> (<span class="disease" id="16134168-2-78-80">CH</span>) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients.
CTD_human;HPO
1
0
Biomarker
C0001824
Agranulocytosis
disease
agranulocytosis
4835
NQO2
NQO2
CTD_human
14,617,031
NQO2 gene is associated with clozapine-induced agranulocytosis.
0.202682
<span class="gene" id="14617031-0-0-4">NQO2</span> gene is associated with clozapine-induced <span class="disease" id="14617031-0-47-62">agranulocytosis</span>.
CTD_human
1
0
Biomarker
C0021390
Inflammatory Bowel Diseases
group
IBD
1670
DEFA5
DEFA5
CTD_human
18,394,979
The SNPs genotyped in our study were surrogates for common variants, and observed associations between these and IBD status are likely due to linkage disequilibrium with a functional common DEFA5 variant.
0.205415
The SNPs genotyped in our study were surrogates for common variants, and observed associations between these and <span class="disease" id="18394979-12-113-116">IBD</span> status are likely due to linkage disequilibrium with a functional common <span class="gene" id="18394979-12-190-195">DEFA5</span> variant.
CTD_human
1
0
Biomarker
C0017662
Glomerulonephritis, Membranoproliferative
disease
membranoproliferative glomerulonephritis
3075
CFH
factor h
CTD_human
14,978,182
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
0.212059
Heterozygous and homozygous <span class="gene" id="14978182-0-28-36">factor h</span> deficiencies associated with hemolytic uremic syndrome or <span class="disease" id="14978182-0-95-135">membranoproliferative glomerulonephritis</span>: report and genetic analysis of 16 cases.
CTD_human
1
0
Biomarker
C0152013
Adenocarcinoma of lung (disorder)
disease
lung adenocarcinoma
6794
STK11
lkb1
CTD_human
24,793,789
The MZF1/c-MYC axis mediates lung adenocarcinoma progression caused by wild-type lkb1 loss.
0.204121
The MZF1/c-MYC axis mediates <span class="disease" id="24793789-0-29-48">lung adenocarcinoma</span> progression caused by wild-type <span class="gene" id="24793789-0-81-85">lkb1</span> loss.
CTD_human
null
null
Negative
MESH:D009336
null
null
tumor necrosis factor a
24451
null
heme oxygenase 1
null
28,061,403
It also significantly restored hippocampal level of reactive oxygen species (ROS), glutathione (GSH), nuclear factor (erythroid-derived 2)-like 2 (Nrf2), activity of catalase and caspase 3, nuclear factor-<kappa>B (NF-kB), toll-like receptor 4 (TLR4), tumor necrosis factor a (TNFa), interleukin-1b (IL-1b), neural cell adhesion molecule (NCAM), glial fibrillary acidic protein (GFAP), cathepsin D, and heme oxygenase 1 (HO-1).
null
null
null
null
null
Negative
MESH:C535607
null
null
AGS
7040
null
TGF-b1
null
28,042,090
In the present study, we used real-time PCR assay to demonstrate TGF-b1-induced miR-574-3p upregulation in AGS cells, which was inhibited by TGF-b receptor I inhibitor SB431542.
null
null
null
null
null
Negative
MESH:D016773
null
null
cutaneous leishmaniasis
216799
null
NLRP3
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
1
0
Biomarker
C1142166
Brugada Syndrome (disorder)
disease
Brugada syndrome
23493
HEY2
HEY2
CTD_human
23,872,634
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
0.200824
Common variants at SCN5A-SCN10A and <span class="gene" id="23872634-0-36-40">HEY2</span> are associated with <span class="disease" id="23872634-0-61-77">Brugada syndrome</span>, a rare disease with high risk of sudden cardiac death.
CTD_human
null
null
Negative
MESH:D004715
null
null
endometriosis
16193
null
Il-6
null
28,138,997
RESULTS: Lipopolysaccharide increased total number, size, and mRNA expression of Ptgs-2, Vegf, Ccl-2, and Il-6 in endometriosis-like lesions.
null
null
null
null
null
Negative
MESH:D014777
null
null
viral infection
85480
null
TSLP
null
28,127,565
CRSwNP epithelial cells release TSLP and IL-25 when stimulated by poly(I:C) but not by DP or AF, suggesting that viral infection may contribute to maintain and amplify the T2 immune response seen in CRSwNP.
null
null
null
null
null
Negative
MESH:D001249
null
null
asthma
296320
null
rNAP
null
28,087,613
Here, we sought to determine whether systemic or mucosal pre-administration of recombinant H. pylori NAP (rNAP) could prevent ovalbumin (OVA)-induced allergic asthma in mice.
null
null
null
null
null
Negative
MESH:D003920
null
null
type 2 diabetes mellitus
14526
null
GLP-1
null
28,213,324
Qing-Hua Granule (QHG), the modified formulation of a classical Chinese prescription named Gegen Qinlian Decoction, was clinically employed to treat type 2 diabetes mellitus (T2DM) through regulation of glucagon-like peptide-1 (GLP-1).
null
null
null
1
0
Biomarker
C0026837
Muscle Rigidity
phenotype
rigid
2643
GCH1
GTP cyclohydrolase 1
CTD_human
17,368,676
We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life.
0.4
We report on a <span class="gene" id="17368676-1-15-35">GTP cyclohydrolase 1</span> mutation-confirmed heterozygous case presenting with an infantile hypokinetic <span class="disease" id="17368676-1-114-119">rigid</span> syndrome and delay in attainment of motor milestones starting from the first year of life.
CTD_human;HPO
null
null
Negative
MESH:D009369
null
null
tumor
403885
null
MMP-9
null
28,215,146
The docking of TIMP-3 protein with MMP-2 and MMP-9 to represent conformational structure of these two proteins which interact with each other but if mislead resulting the progression of tumor in canine.
null
null
null
null
null
Negative
MESH:D012174
null
null
adRP
23020
null
SNRNP200
null
28,076,437
Finally, we expanded the molecular spectrum of PRPH2, PRPF8, RHO, RP1, SNRNP200, and TOPORS-associated adRP by the identification of 17 novel mutations.
null
null
null
null
null
Negative
MESH:D007249
null
null
inflammation
18787
null
PAI-1
null
28,205,266
Our results could suggest that PNP downregulates VSMC proliferation and migration, mediated by PAI-1 and TSP-1, and reduces inflammation and oxidative stress in vessels.
null
null
null
1
0
Biomarker
C0022661
Kidney Failure, Chronic
disease
CRF
213
ALB
serum albumin
CTD_human
11,938,814
Membranous nephropathy model was induced by cationized bovine serum albumin intravenous administration in rats for 7 weeks and developed to CRF.
0.203571
Membranous nephropathy model was induced by cationized bovine <span class="gene" id="11938814-2-62-75">serum albumin</span> intravenous administration in rats for 7 weeks and developed to <span class="disease" id="11938814-2-140-143">CRF</span>.
CTD_human
6
0
Biomarker
C0020429
Hyperalgesia
phenotype
hyperalgesia
3553
IL1B
IL-1
CTD_human
20,937,348
The present study suggests that an IL-1 receptor antagonist effectively attenuates or blocks long-lasting hyperalgesia and microglia activation produced by LPS exposure in the neonatal period of rats.
0.280275
The present study suggests that an <span class="gene" id="20937348-9-35-39">IL-1</span> receptor antagonist effectively attenuates or blocks long-lasting <span class="disease" id="20937348-9-106-118">hyperalgesia</span> and microglia activation produced by LPS exposure in the neonatal period of rats.
CTD_human
null
null
Negative
MESH:D012512
null
null
Ewing family tumors
256646
null
NUT
null
28,176,137
Sinonasal NUT-midline carcinoma, adamantinoma-like Ewing family tumors and most recently, SMARCB1(INI1)-deficient sinonasal carcinoma are the main entities defined by specific genetic aberrations.
null
null
null
2
1
Biomarker
C0025202
melanoma
disease
melanoma
51151
SLC45A2
SLC45A2
CTD_human
21,559,390
A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene.
0.218391
A customized pigmentation SNP array identifies a novel SNP associated with <span class="disease" id="21559390-0-75-83">melanoma</span> predisposition in the <span class="gene" id="21559390-0-106-113">SLC45A2</span> gene.
CTD_human
null
null
Negative
MESH:D003528
null
null
adenoid cystic carcinoma
56477
null
MEC
null
28,139,061
CRTC1/MAML2 and MYB/NFIB were also analyzed in MEC and adenoid cystic carcinoma cases, respectively.
null
null
null
4
0
Biomarker
C0919267
ovarian neoplasm
disease
ovarian tumors
6597
SMARCA4
SMARCA4
CTD_human
24,658,001
We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors.
0.200275
We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene <span class="gene" id="24658001-2-99-106">SMARCA4</span> in 75% (9/12) of SCCOHT cases in addition to <span class="gene" id="24658001-2-152-159">SMARCA4</span> protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary <span class="disease" id="24658001-2-247-261">ovarian tumors</span>.
CTD_human
1
0
Biomarker
C0162871
Aortic Aneurysm, Abdominal
disease
abdominal aortic aneurysm
5743
PTGS2
cyclooxygenase-2
CTD_human
16,514,081
Selective cyclooxygenase-2 inhibition with celecoxib decreases angiotensin II-induced abdominal aortic aneurysm formation in mice.
0.200549
Selective <span class="gene" id="16514081-0-10-26">cyclooxygenase-2</span> inhibition with celecoxib decreases angiotensin II-induced <span class="disease" id="16514081-0-86-111">abdominal aortic aneurysm</span> formation in mice.
CTD_human
null
null
Negative
OMIM:217000
null
null
C2 tumors
11186
null
RASSF1
null
28,142,444
Moreover, we discriminated HB tumors in C1 and C2 subclasses by using the 16-gene signature and correlation of these subtypes with the methylation status of RASSF1 showed a significant association (p=0.0037) for aggressive C2 tumors (8/11), but not C1 tumors (1/10).
null
null
null
2
0
Biomarker
C0007131
Non-Small Cell Lung Carcinoma
disease
NSCLC
1029
CDKN2A
cyclin-dependent kinase inhibitor 2A
CTD_human
18,337,602
In a multivariate model, promoter methylation of the cyclin-dependent kinase inhibitor 2A gene p16, the H-cadherin gene CDH13, the Ras association domain family 1 gene RASSF1A, and the adenomatous polyposis coli gene APC in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of NSCLC stage, age, sex, race, smoking history, and histologic characteristics of the tumor.
0.233726
In a multivariate model, promoter methylation of the <span class="gene" id="18337602-5-53-89">cyclin-dependent kinase inhibitor 2A</span> gene p16, the H-cadherin gene CDH13, the Ras association domain family 1 gene RASSF1A, and the adenomatous polyposis coli gene APC in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of <span class="disease" id="18337602-5-335-340">NSCLC</span> stage, age, sex, race, smoking history, and histologic characteristics of the tumor.
CTD_human
6
0
Biomarker
C0149721
Left Ventricular Hypertrophy
disease
LV hypertrophy
183
AGT
angiotensin II
CTD_human
24,688,123
In contrast to TAC, antagonizing the function of CTGF had no effect on LV dysfunction or LV hypertrophy in mice subjected to 4-week angiotensin II infusion.
0.254301
In contrast to TAC, antagonizing the function of CTGF had no effect on LV dysfunction or <span class="disease" id="24688123-7-89-103">LV hypertrophy</span> in mice subjected to 4-week <span class="gene" id="24688123-7-132-146">angiotensin II</span> infusion.
CTD_human
1
0
Biomarker
C0026848
Myopathy
group
myopathy
84466
MEGF10
MEGF10
CTD_human
22,101,682
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
0.201099
Mutations in <span class="gene" id="22101682-0-13-19">MEGF10</span>, a regulator of satellite cell myogenesis, cause early onset <span class="disease" id="22101682-0-81-89">myopathy</span>, areflexia, respiratory distress and dysphagia (EMARDD).
CTD_human
null
null
Negative
MESH:C562591
null
null
XPD
1643
null
DDB2
null
28,115,302
Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5).
null
null
null
null
null
Negative
MESH:D009369
null
null
tumor
397603
null
IDH2
null
28,157,189
All the RHOA and IDH2 mutations were confined to the PD1+ cells, indicating that some, including RHOA and IDH2 mutations, being specific events in tumor cells.
null
null
null
null
null
Negative
MESH:D017827
null
null
wild-type
27643
null
GDX
null
28,131,743
We identified altered gene expression in prepubertally gonadectomized (GDX) inha/Tag and wild-type (WT) mice.
null
null
null
4
0
Biomarker
C0345967
Malignant mesothelioma
disease
MM
8314
BAP1
BAP1
CTD_human
26,463,840
BAP1 mutations occurred in asbestos-exposed MM.
0.205495
<span class="gene" id="26463840-13-0-4">BAP1</span> mutations occurred in asbestos-exposed <span class="disease" id="26463840-13-44-46">MM</span>.
CTD_human
null
null
Negative
MESH:D001796
null
null
protein aggregation
616199
null
aldose reductase
null
28,192,136
The effect of selected flavonoids was observed on glycation induced lens opacity, AGE fluorescence, carbonyl group formation (a biomarker of glycation), protein aggregation and aldose reductase (AR) inhibition.
null
null
null
null
null
Negative
MESH:C566610
null
null
axis
83430
null
IL-23
null
28,191,009
In tumor tissue of p47phox-/- mice, the IL-23/IL-17 axis was crucially hampered.
null
null
null
null
null
Negative
MESH:D001145
null
null
ventricular arrhythmia
100008935
null
Cx43
null
28,158,934
CONCLUSION: A single exposure of the dog heart to (12) C irradiation attenuated vulnerability to ventricular arrhythmia after the induction of MI for at least 1 year through the modulation of Cx43 expression.
null
null
null
1
0
Biomarker
C0002395
Alzheimer's Disease
disease
AD
3479
IGF1
IGF-I
CTD_human
15,750,215
The strikingly reduced CNS expression of genes encoding insulin, IGF-I, and IGF-II, as well as the insulin and IGF-I receptors, suggests that AD may represent a neuro-endocrine disorder that resembles, yet is distinct from diabetes mellitus.
0.213642
The strikingly reduced CNS expression of genes encoding insulin, <span class="gene" id="15750215-6-65-70">IGF-I</span>, and IGF-II, as well as the insulin and <span class="gene" id="15750215-6-111-116">IGF-I</span> receptors, suggests that <span class="disease" id="15750215-6-142-144">AD</span> may represent a neuro-endocrine disorder that resembles, yet is distinct from diabetes mellitus.
CTD_human
1
0
Biomarker
C0010674
Cystic Fibrosis
disease
cystic fibrosis
7132
TNFRSF1A
TNFRSF1A
CTD_human
16,463,024
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
0.205415
The TNFalpha receptor <span class="gene" id="16463024-0-22-30">TNFRSF1A</span> and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in <span class="disease" id="16463024-0-111-126">cystic fibrosis</span>.
CTD_human
null
null
Negative
MESH:D013901
null
null
neurovascular injury
111345
null
SAA
null
28,190,474
HYPOTHESIS: The aim of present study was to investigate the relationship between the effectiveness of SAA against neurovascular injury and its effects on calpain activation and endothelial nitric oxide synthase (eNOS) uncoupling.
null
null
null
null
null
Negative
MESH:D009336
null
null
necrosis
56532
null
RIP3
null
28,127,258
Moreover, the up-regulation of RIP3 (a necroptosis marker) by 5-FU, and the activation of RIP3 by TNF-a, synergistically triggered necroptosis (programmed necrosis).
null
null
null
null
null
Negative
MESH:D009765
null
null
obesity
18596
null
Pdgfrb
null
28,122,789
Consequently, diet-induced obesity and the associated deterioration of glucose metabolism in wild-type mice were absent in Pdgfrb-knockout mice.
null
null
null
1
2
Biomarker
C0003873
Rheumatoid Arthritis
disease
rheumatoid arthritis
122618
PLD4
PLD4
CTD_human
22,446,963
Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2.
0.2
Our study identified nine loci newly associated with <span class="disease" id="22446963-3-53-73">rheumatoid arthritis</span> at a threshold of P &lt; 5.0 &times; 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, <span class="gene" id="22446963-3-176-180">PLD4</span> and PTPN2.
CTD_human
null
null
Negative
MESH:D008067
null
null
lipomas
574411
null
miR-451
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
Therapeutic
C0018801
Heart failure
disease
HF
3315
HSPB1
Hsp27
CTD_human
17,481,944
Transgenic mice (TG) with cardiac specific over-expression of Hsp27 and their wild type littermates (WT) were challenged with doxorubicin (25 mg/kg, IP) to induce HF.
0.2
Transgenic mice (TG) with cardiac specific over-expression of <span class="gene" id="17481944-4-62-67">Hsp27</span> and their wild type littermates (WT) were challenged with doxorubicin (25 mg/kg, IP) to induce <span class="disease" id="17481944-4-163-165">HF</span>.
CTD_human
8
2
Biomarker
C0005586
Bipolar Disorder
disease
bipolar disorder
775
CACNA1C
CACNA1C
CTD_human
18,711,365
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
0.425013
Collaborative genome-wide association analysis supports a role for ANK3 and <span class="gene" id="18711365-0-76-83">CACNA1C</span> in <span class="disease" id="18711365-0-87-103">bipolar disorder</span>.
CTD_human;PSYGENET
1
0
Biomarker
C0032927
Precancerous Conditions
phenotype
premalignant
1029
CDKN2A
p16
CTD_human
24,991,542
Promoter region hypermethylation and mRNA expression of MGMT and p16 genes in tissue and blood samples of human premalignant oral lesions and oral squamous cell carcinoma.
0.214155
Promoter region hypermethylation and mRNA expression of MGMT and <span class="gene" id="24991542-0-65-68">p16</span> genes in tissue and blood samples of human <span class="disease" id="24991542-0-112-124">premalignant</span> oral lesions and oral squamous cell carcinoma.
CTD_human
null
null
Negative
MESH:D010003
null
null
osteoarthritis
20343
null
L-selectin
null
28,087,905
UNASSIGNED: Objective: To observe the influence of matrix metalloproteinases-2 (MMP-2), monocyte chemoattractant protein-1 (MCP-1), CD47, L-selectin and advanced oxidation proteinproducts (AOPP) in osteoarthritis and the intervention of curcumin.
null
null
null
1
1
Biomarker
C0002395
Alzheimer's Disease
disease
Alzheimer's disease
5649
RELN
Reelin
CTD_human
20,610,758
Reduced Reelin expression accelerates amyloid-beta plaque formation and tau pathology in transgenic Alzheimer's disease mice.
0.209536
Reduced <span class="gene" id="20610758-0-8-14">Reelin</span> expression accelerates amyloid-beta plaque formation and tau pathology in transgenic <span class="disease" id="20610758-0-100-119">Alzheimer's disease</span> mice.
CTD_human
null
null
Negative
MESH:C567932
null
null
OS
672
null
BRCA1
null
28,021,523
AIM: To investigate the prognostic significance of BRCA1 PM with respect to RFS and OS in patients receiving chemotherapy for stage I-III TNBC.
null
null
null
null
null
Negative
MESH:D001523
null
null
reduced arbor complexity
174305
null
IRE-1
null
28,114,319
PVD neurons of nematodes lacking ire-1 display reduced arbor complexity, whereas mutations in genes encoding other ER stress sensors displayed normal PVD dendrites, specifying IRE-1 as a selective ER stress sensor that is essential for PVD dendrite morphogenesis.
null
null
null
1
0
Biomarker
C1956346
Coronary Artery Disease
disease
coronary artery disease
959
CD40LG
CD40 ligand
CTD_human
16,368,305
Effect of atorvastatin on circulating proinflammatory T-lymphocyte subsets and soluble CD40 ligand in patients with stable coronary artery disease--a randomized, placebo-controlled study.
0.286015
Effect of atorvastatin on circulating proinflammatory T-lymphocyte subsets and soluble <span class="gene" id="16368305-0-87-98">CD40 ligand</span> in patients with stable <span class="disease" id="16368305-0-123-146">coronary artery disease</span>--a randomized, placebo-controlled study.
CTD_human
96
174
Biomarker
C0019202
Hepatolenticular Degeneration
disease
WD
540
ATP7B
Atp7b
CTD_human
21,364,284
The present study focuses on the structural mitochondrial alterations that precede clinical symptoms in the livers of rats lacking Atp7b, an animal model for WD.
0.885769
The present study focuses on the structural mitochondrial alterations that precede clinical symptoms in the livers of rats lacking <span class="gene" id="21364284-2-131-136">Atp7b</span>, an animal model for <span class="disease" id="21364284-2-158-160">WD</span>.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D007249
null
null
inflammation
19164
null
PS1
null
28,189,498
Then, we demonstrated the enhanced recruitment of inflammation-resolving monocytes across the choroid plexus and perivascular spaces to cerebral sites of plaque pathology in APP/PS1 mice immunized with BCG.
null
null
null