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587 values
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9 values
null
null
Negative
MESH:D007674
null
null
IgA nephropathy
60498
null
IgAN
null
28,203,107
AIMS: The aims of this study were to validate the diagnosis of IgA nephropathy (IgAN) in Swedish biopsy registers against patient charts and to describe the clinical characteristics of patients with a biopsy indicating IgAN.
null
null
null
7
23
Biomarker
C1848533
Ataxia with vitamin E deficiency
disease
ataxia with isolated vitamin E deficiency
7274
TTPA
alpha-TTP
CTD_human
18,458,655
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.
0.686044
A novel delins mutation in the <span class="gene" id="18458655-0-31-40">alpha-TTP</span> gene in a family segregating <span class="disease" id="18458655-0-70-111">ataxia with isolated vitamin E deficiency</span>.
CTD_human;ORPHANET;UNIPROT
28
0
Biomarker
C0007131
Non-Small Cell Lung Carcinoma
disease
nsclc
238
ALK
ALK
CTD_human
22,787,409
However, the benefits of these agents are not uniform across the spectrum of nsclc, and optimizing their utility requires some degree of subgrouping of nsclc by the presence or absence of certain biomarkers.The biomarkers of current or imminent value are EGFR and KRAS mutational status, ALK rearrangements, and MET immunohistochemistry.
0.28
However, the benefits of these agents are not uniform across the spectrum of <span class="disease" id="22787409-3-77-82">nsclc</span>, and optimizing their utility requires some degree of subgrouping of <span class="disease" id="22787409-3-152-157">nsclc</span> by the presence or absence of certain biomarkers.The biomarkers of current or imminent value are EGFR and KRAS mutational status, <span class="gene" id="22787409-3-288-291">ALK</span> rearrangements, and MET immunohistochemistry.
CTD_human
1
0
Biomarker
C1961102
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease
lymphoblastic lymphoma
63978
PRDM14
Prdm14
CTD_human
19,043,588
This study implicates Prdm14 as a proto-oncogene involved in lymphoblastic lymphoma formation.
0.2
This study implicates <span class="gene" id="19043588-9-22-28">Prdm14</span> as a proto-oncogene involved in <span class="disease" id="19043588-9-61-83">lymphoblastic lymphoma</span> formation.
CTD_human
1
0
Biomarker
C0030567
Parkinson Disease
disease
Parkinson disease
5243
ABCB1
ABCB1
CTD_human
20,558,393
Interaction between ABCB1 and professional exposure to organochlorine insecticides in Parkinson disease.
0.234532
Interaction between <span class="gene" id="20558393-0-20-25">ABCB1</span> and professional exposure to organochlorine insecticides in <span class="disease" id="20558393-0-86-103">Parkinson disease</span>.
CTD_human
1
0
Biomarker
C0007131
Non-Small Cell Lung Carcinoma
disease
NSCLC
4504
MT3
metallothionein 3
CTD_human
17,043,644
Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, metallothionein 3 and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in NSCLC cell lines and tumors.
0.200275
Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, <span class="gene" id="17043644-5-88-105">metallothionein 3</span> and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in <span class="disease" id="17043644-5-195-200">NSCLC</span> cell lines and tumors.
CTD_human
null
null
Negative
MESH:D009369
null
null
cancer
5595;5594
null
ERK1/2
null
28,022,187
UNASSIGNED: 3006^ Background: The Ras-Raf-MEK-extra-cellular signal-regulated kinase 1 and 2 (ERK1/2) pathway is frequently deregulated in human cancer.
null
null
null
1
0
Biomarker
C0004153
Atherosclerosis
disease
atherosclerosis
7422
VEGFA
VEGF
CTD_human
15,937,083
VEGF polymorphisms and severity of atherosclerosis.
0.227377
<span class="gene" id="15937083-0-0-4">VEGF</span> polymorphisms and severity of <span class="disease" id="15937083-0-35-50">atherosclerosis</span>.
CTD_human
2
0
Therapeutic
C0028754
Obesity
disease
obesity
9370
ADIPOQ
Acrp30
CTD_human
14,617,771
The long-term expression of recombinant adeno-associated virus-Acrp30 vectors was tested after intramuscular or intraportal injection in female Sprague-Dawley rats with diet-induced obesity.
0.389121
The long-term expression of recombinant adeno-associated virus-<span class="gene" id="14617771-5-63-69">Acrp30</span> vectors was tested after intramuscular or intraportal injection in female Sprague-Dawley rats with diet-induced <span class="disease" id="14617771-5-182-189">obesity</span>.
CTD_human
17
19
Biomarker
C0162568
Erythropoietic Protoporphyria
disease
EPP
2235
FECH
Ferrochelatase
CTD_human
17,600,043
Ferrochelatase-deficient (fch/fch) mice are an animal model for human EPP.
0.730919
<span class="gene" id="17600043-2-0-14">Ferrochelatase</span>-deficient (fch/fch) mice are an animal model for human <span class="disease" id="17600043-2-70-73">EPP</span>.
CTD_human;ORPHANET;UNIPROT
1
0
Biomarker
C0596263
Carcinogenesis
phenotype
tumorigenesis
1029
CDKN2A
Cdkn2a
CTD_human
21,526,190
Losses of both products of the Cdkn2a/Arf locus contribute to asbestos-induced mesothelioma development and cooperate to accelerate tumorigenesis.
0.28
Losses of both products of the <span class="gene" id="21526190-0-31-37">Cdkn2a</span>/Arf locus contribute to asbestos-induced mesothelioma development and cooperate to accelerate <span class="disease" id="21526190-0-132-145">tumorigenesis</span>.
CTD_human
null
null
Negative
MESH:C564145
null
null
HBD-2
3576
null
IL-8
null
28,147,379
Concentrations of pro- and anti-inflammatory mediators (interleukin [IL]-1b, IL-6, tumor necrosis factor [TNF]-a, IL-10, and TGF-b), chemokines (IL-8 and GCP-2), and human b-defensins (HBD-1, HBD-2, and HBD-3) were measured in the culture supernatants.
null
null
null
null
null
Negative
MESH:D008228
null
null
NHL
1019;1021
null
CDK 4/6
null
28,023,509
CONCLUSIONS: PD 0332991 represents a promising and specific inhibitor for therapeutic targeting of CDK 4/6 in DLBCL, and possibly other B-cell NHL.
null
null
null
null
null
Negative
MESH:D015862
null
null
choroidal thickness
64396
null
GCL
null
28,028,626
Patients and HC were examined with OCT. RNFL, ganglion cell layer (GCL), foveal thickness (FT), choroidal thickness (CT) and total macular volume (TMV) were calculated for right eyes (RE) and left eyes (LE).
null
null
null
2
0
Biomarker
C0020429
Hyperalgesia
phenotype
hyperalgesia
6869
TACR1
NK-1 receptor
CTD_human
17,123,731
Spinal NK-1 receptor expressing neurons mediate opioid-induced hyperalgesia and antinociceptive tolerance via activation of descending pathways.
0.2
Spinal <span class="gene" id="17123731-0-7-20">NK-1 receptor</span> expressing neurons mediate opioid-induced <span class="disease" id="17123731-0-63-75">hyperalgesia</span> and antinociceptive tolerance via activation of descending pathways.
CTD_human
null
null
Negative
MESH:D017827
null
null
WT
685
null
Btc
null
28,139,851
We show that Btc mRNA is strongly upregulated in immature and dedifferentiated Sox2<sup>+</sup>Schwann cells located in the sciatic nerve distal stump of WT mice, but not Wld<sup>S</sup>mutants.
null
null
null
null
null
Negative
MESH:D009202
null
null
cardiomyopathy
16905
null
lamin A/C
null
28,011,205
Mice with dilated cardiomyopathy caused by a lamin A/C gene mutation have abnormally increased cardiac ERK1/2 activity.
null
null
null
3
0
Biomarker
C0220633
Uveal melanoma
disease
uveal melanoma
8314
BAP1
BAP1
CTD_human
21,874,000
These results identify a BAP1-related cancer syndrome that is characterized by mesothelioma and uveal melanoma.
0.408791
These results identify a <span class="gene" id="21874000-6-25-29">BAP1</span>-related cancer syndrome that is characterized by mesothelioma and <span class="disease" id="21874000-6-96-110">uveal melanoma</span>.
CTD_human;HPO
1
0
Biomarker
C0033626
Protein Deficiency
disease
Protein deficiency
2936
GSR
glutathione reductase
CTD_human
15,865,262
Protein deficiency in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation.
0.2
<span class="disease" id="15865262-5-0-18">Protein deficiency</span> in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, <span class="gene" id="15865262-5-128-149">glutathione reductase</span>, and glutathione-S-transferase and the levels of lipid peroxidation.
CTD_human
1
0
Biomarker
C0023418
leukemia
disease
leukemia
367
AR
Androgen receptor
CTD_human
19,235,587
Androgen receptor CpG island methylation status in human leukemia cancer cells.
0.200549
<span class="gene" id="19235587-0-0-17">Androgen receptor</span> CpG island methylation status in human <span class="disease" id="19235587-0-57-65">leukemia</span> cancer cells.
CTD_human
null
null
Negative
MESH:D009203
null
null
MI
100038033
null
galectin-3
null
28,094,123
Myocardial and serum galectin-3 expression dynamics in response to the early cardiovascular outcomes after acute MI are not fully elucidated.
null
null
null
12
9
Biomarker
C0795953
MASA SYNDROME (disorder)
disease
SPG1
3897
L1CAM
HSAS
CTD_human
7,920,659
Here we report mutations of the L1 gene in MASA syndrome and SPG1, in addition to HSAS families.
0.685495
Here we report mutations of the L1 gene in <span class="disease" id="7920659-3-43-56">MASA syndrome</span> and <span class="disease" id="7920659-3-61-65">SPG1</span>, in addition to <span class="gene" id="7920659-3-82-86">HSAS</span> families.
CTD_human;ORPHANET;UNIPROT
6
0
Biomarker
C0033578
Prostatic Neoplasms
group
prostate tumours
2100
ESR2
ESR2
CTD_human
26,443,449
The mRNA levels of PPFIBP2 and ESR2 are differentially expressed in prostate tumours and paired normal tissues.
0.228977
The mRNA levels of PPFIBP2 and <span class="gene" id="26443449-5-31-35">ESR2</span> are differentially expressed in <span class="disease" id="26443449-5-68-84">prostate tumours</span> and paired normal tissues.
CTD_human
null
null
Negative
MESH:D006948
null
null
decline of locomotor activity
53581
null
Gclc
null
28,105,938
Gclc overexpression slowed down the age-dependent decline of locomotor activity and circadian rhythmicity, and resistance to stress treatments.
null
null
null
2
0
Biomarker
C0086543
Cataract
disease
cataracts
5309
PITX3
PITX3
CTD_human
16,565,358
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
0.404656
Heterozygous and homozygous mutations in <span class="gene" id="16565358-0-41-46">PITX3</span> in a large Lebanese family with posterior polar <span class="disease" id="16565358-0-95-104">cataracts</span> and neurodevelopmental abnormalities.
CTD_human;HPO
24
0
Biomarker
C0002736
Amyotrophic Lateral Sclerosis
disease
amyotrophic lateral sclerosis
6647
SOD1
SOD1
CTD_human
10,930,589
Increased reactive oxygen species in familial amyotrophic lateral sclerosis with mutations in SOD1.
0.798512
Increased reactive oxygen species in familial <span class="disease" id="10930589-0-46-75">amyotrophic lateral sclerosis</span> with mutations in <span class="gene" id="10930589-0-94-98">SOD1</span>.
CTD_human;HPO;ORPHANET
null
null
Negative
MESH:D013927
null
null
thrombosis
56760
null
CLEC-2
null
28,028,907
CLEC-2 depletion prolongs cancer survival by suppressing thrombosis and inflammation.
null
null
null
null
null
Negative
MESH:D000795
null
null
Fabry disease
53947
null
Gb3
null
28,108,302
We thus investigated relationships between Fabry disease biomarkers (such as globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3)/related analogues) and age, gender, enzyme activity, clinical manifestations and severity of the disease in these patients.
null
null
null
1
0
Biomarker
C0007137
Squamous cell carcinoma
disease
squamous cell carcinoma
3066
HDAC2
HDAC2
CTD_human
21,527,555
Physical association of HDAC1 and HDAC2 with p63 mediates transcriptional repression and tumor maintenance in squamous cell carcinoma.
0.200549
Physical association of HDAC1 and <span class="gene" id="21527555-0-34-39">HDAC2</span> with p63 mediates transcriptional repression and tumor maintenance in <span class="disease" id="21527555-0-110-133">squamous cell carcinoma</span>.
CTD_human
null
null
Negative
MESH:D004342
null
null
visceral hypersensitivity
22073
null
trypsin-3
null
28,096,305
CONCLUSIONS: In IBS, the intestinal epithelium produces and releases the active protease trypsin-3, which is able to signal to enteric neurons and to induce visceral hypersensitivity.
null
null
null
25
0
Biomarker
C0004153
Atherosclerosis
disease
atherosclerosis
348
APOE
apolipoprotein E
CTD_human
11,947,894
Low density lipoprotein receptor deficient (LDLR-KO) and apolipoprotein E deficient (apo E-KO) mice both develop hyperlipidemia and atherosclerosis by different mechanisms.
0.587329
Low density lipoprotein receptor deficient (LDLR-KO) and <span class="gene" id="11947894-1-57-73">apolipoprotein E</span> deficient (apo E-KO) mice both develop hyperlipidemia and <span class="disease" id="11947894-1-132-147">atherosclerosis</span> by different mechanisms.
CTD_human;HPO
null
null
Negative
MESH:D009369
null
null
tumor
21929
null
A20
null
28,004,776
UNASSIGNED: The ubiquitin-modifying enzyme A20, an important negative feedback regulator of NF-kB, impairs the expansion of tumor-specific CD8(+) T cells but augments the proliferation of autoimmune CD4(+) T cells.
null
null
null
null
null
Negative
MESH:D012162
null
null
inherited retinal degeneration
11545
null
PARP
null
28,004,814
This study affirms the role of PARP in inherited retinal degeneration and for the first time shows that a clinically approved PARP inhibitor can prevent photoreceptor degeneration in an RP model.
null
null
null
2
0
Biomarker
C0152013
Adenocarcinoma of lung (disorder)
disease
adenocarcinoma of the lung
1956
EGFR
EGFR
CTD_human
22,135,231
We examined epidermal growth factor receptor (EGFR), Kirsten rate sarcoma viral oncogene homolog (KRAS), v-Raf murine sarcoma viral oncogene homolog B1 (BRAF), human epidermal growth factor receptor 2 (HER2), PIK3CA, v-akt murine thymoma vial oncogene homolog 1 (AKT1), v-ras neuroblastoma viral oncogene homolog (NRAS), dual specificity mitogen-activated protein kinase kinase 1 (MEK1), and anaplastic lymphoma kinase (ALK) in patients with adenocarcinoma of the lung to identify driver mutations.
0.28
We examined <span class="gene" id="22135231-4-12-44">epidermal growth factor receptor</span> (<span class="gene" id="22135231-4-46-50">EGFR</span>), Kirsten rate sarcoma viral oncogene homolog (KRAS), v-Raf murine sarcoma viral oncogene homolog B1 (BRAF), human epidermal growth factor receptor 2 (HER2), PIK3CA, v-akt murine thymoma vial oncogene homolog 1 (AKT1), v-ras neuroblastoma viral oncogene homolog (NRAS), dual specificity mitogen-activated protein kinase kinase 1 (MEK1), and anaplastic lymphoma kinase (ALK) in patients with <span class="disease" id="22135231-4-442-468">adenocarcinoma of the lung</span> to identify driver mutations.
CTD_human
2
3
Biomarker
C0027819
Neuroblastoma
disease
neuroblastoma
580
BARD1
BARD1
CTD_human
19,412,175
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
0.202198
Common variations in <span class="gene" id="19412175-0-21-26">BARD1</span> influence susceptibility to high-risk <span class="disease" id="19412175-0-65-78">neuroblastoma</span>.
CTD_human
1
0
Biomarker
C0024141
Lupus Erythematosus, Systemic
disease
systemic lupus erythematosus
1445
CSK
CSK
CTD_human
23,042,117
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.
0.200549
<span class="gene" id="23042117-0-0-3">CSK</span> regulatory polymorphism is associated with <span class="disease" id="23042117-0-47-75">systemic lupus erythematosus</span> and influences B-cell signaling and activation.
CTD_human
null
null
Negative
MESH:D009202
null
null
cardiomyopathy
64529
null
CTSB
null
28,074,340
However, the information regarding the role of cysteine cathepsin L (CTSL) and cathepsin B (CTSB) in dilated cardiomyopathy (DCM) is limited.
null
null
null
4
0
Biomarker
C0011881
Diabetic Nephropathy
disease
diabetic nephropathy
1636
ACE
angiotensin I--converting enzyme
CTD_human
7,909,524
Genetic predisposition to diabetic nephropathy. Evidence for a role of the angiotensin I--converting enzyme gene.
0.416577
Genetic predisposition to <span class="disease" id="7909524-0-26-46">diabetic nephropathy</span>. Evidence for a role of the <span class="gene" id="7909524-0-75-107">angiotensin I--converting enzyme</span> gene.
CTD_human
1
0
Biomarker
C0004096
Asthma
disease
asthmatic
3553
IL1B
IL-1
CTD_human
9,176,529
Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (IL-1 ra) expression in asthmatic bronchial epithelium.
0.236144
Effect of inhaled glucocorticoids on <span class="gene" id="9176529-0-37-46">IL-1 beta</span> and <span class="gene" id="9176529-0-51-55">IL-1</span> receptor antagonist (IL-1 ra) expression in <span class="disease" id="9176529-0-100-109">asthmatic</span> bronchial epithelium.
CTD_human
null
null
Negative
MESH:D003424
null
null
CD
170750
null
SAMP
null
28,125,562
Recently, we determined that the genetic deletion of the NOD2 gene decreased the severity of Th2-mediated chronic inflammation in a mouse strain characterized by suffering CD-like spontaneous progressive ileitis (SAMP1Yit/Fc; SAMP).
null
null
null
null
null
Negative
MESH:D013119
null
null
SCI
12367
null
caspase-3
null
28,210,902
Deletion of Mst1 in mice reduced apoptosis via suppressing cytochrome c release and caspase-3 activation following SCI.
null
null
null
null
null
Negative
MESH:C536751
null
null
WT-1
3855;54474
null
CK 7/20
null
28,021,228
CONCLUSIONS: Uniform and limited IHC including CK 7/20; CDX-2, WT-1 and Calretinin are the most helpful first tier IHC in determining the cancer profile and choosing the best treatment strategy for isolated carcinomatosis CUP patients.
null
null
null
null
null
Negative
MESH:D030342
null
null
autosomal recessive disorder
1589
null
CYP21A2
null
28,161,392
UNASSIGNED: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene.
null
null
null
null
null
Negative
MESH:D006623
null
null
VHL
2272
null
FHIT
null
28,143,107
The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@.
null
null
null
1
0
Biomarker
C0339573
Glaucoma, Primary Open Angle
disease
primary open-angle glaucoma
64778
FNDC3B
FNDC3B
CTD_human
23,291,589
FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls).
0.200549
<span class="gene" id="23291589-4-0-6">FNDC3B</span> was also associated with <span class="disease" id="23291589-4-32-59">primary open-angle glaucoma</span> (P = 5.6 &times; 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls).
CTD_human
null
null
Negative
MESH:D001014
null
null
aortic aneurysm
74499
null
SOST
null
28,062,506
The aim of this study was to assess the role of SOST in aortic aneurysm (AA) and atherosclerosis using human samples, a mouse model, and in vitro investigations.
null
null
null
1
2
Biomarker
C0011615
Dermatitis, Atopic
disease
atopic dermatitis
22891
ZNF365
ZNF365
CTD_human
23,042,114
On the basis of data from a genome-wide association study (GWAS) and a validation study comprising a total of 3,328 subjects with atopic dermatitis and 14,992 controls in the Japanese population, we report here 8 new susceptibility loci: IL1RL1-IL18R1-IL18RAP (P(combined) = 8.36 × 10(-18)), the major histocompatibility complex (MHC) region (P = 8.38 × 10(-20)), OR10A3-NLRP10 (P = 1.54 × 10(-22)), GLB1 (P = 2.77 × 10(-16)), CCDC80 (P = 1.56 × 10(-19)), CARD11 (P = 7.83 × 10(-9)), ZNF365 (P = 5.85 × 10(-20)) and CYP24A1-PFDN4 (P = 1.65 × 10(-8)).
0.2
On the basis of data from a genome-wide association study (GWAS) and a validation study comprising a total of 3,328 subjects with <span class="disease" id="23042114-2-130-147">atopic dermatitis</span> and 14,992 controls in the Japanese population, we report here 8 new susceptibility loci: IL1RL1-IL18R1-IL18RAP (P(combined) = 8.36 &times; 10(-18)), the major histocompatibility complex (MHC) region (P = 8.38 &times; 10(-20)), OR10A3-NLRP10 (P = 1.54 &times; 10(-22)), GLB1 (P = 2.77 &times; 10(-16)), CCDC80 (P = 1.56 &times; 10(-19)), CARD11 (P = 7.83 &times; 10(-9)), <span class="gene" id="23042114-2-484-490">ZNF365</span> (P = 5.85 &times; 10(-20)) and CYP24A1-PFDN4 (P = 1.65 &times; 10(-8)).
CTD_human
null
null
Negative
MESH:D054221
null
null
Miller-Dieker syndrome
1398
null
CRK
null
28,186,603
Both deletions have overlapped with the critical region of Miller-Dieker syndrome (MDS) and involved candidate genes such as PAFAH1B1, YWHAE and CRK.
null
null
null
null
null
Negative
MESH:D000230
null
null
adenocarcinomas
109264
null
ME3
null
28,174,172
The chromosome 18q21 deletion in nearly one third of pancreatic adenocarcinomas eliminates not only the tumor suppressor SMAD4, but also neighboring genes with important cellular roles, such as ME2 This is tolerated by cancer cells only because ME2 has a functionally redundant paralog, ME3, elsewhere in the genome.
null
null
null
null
null
Negative
MESH:D001201
null
null
ascites
15977
null
IFN-b
null
28,129,467
Interferon-b (IFN-b) has been used to treat several cancer indications; however, little is known about the efficacy of IFN-b on malignant ascites.
null
null
null
null
null
Negative
MESH:D007249
null
null
Inflammation
21926
null
TNF
null
28,187,456
Inflammation and pro-inflammatory cytokines produced by Th1 and Th17 cells like IL-6, TNF, IL-17 and IL-23 promote the development and growth of colorectal cancer (CRC).
null
null
null
3
0
Therapeutic
C2239176
Liver carcinoma
disease
HCC
3439
IFNA1
IFN-alpha
CTD_human
18,665,156
These results suggest that IFN-alpha gene therapy is a promising strategy to treat HCC patients who have concomitant liver cirrhosis.
0.207692
These results suggest that <span class="gene" id="18665156-8-27-36">IFN-alpha</span> gene therapy is a promising strategy to treat <span class="disease" id="18665156-8-83-86">HCC</span> patients who have concomitant liver cirrhosis.
CTD_human
2
0
Therapeutic
C0023473
Myeloid Leukemia, Chronic
disease
chronic myeloid leukemia
240
ALOX5
Alox5
CTD_human
19,503,090
Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia.
0.201374
Loss of the <span class="gene" id="19503090-0-12-17">Alox5</span> gene impairs leukemia stem cells and prevents <span class="disease" id="19503090-0-64-88">chronic myeloid leukemia</span>.
CTD_human
68
0
Therapeutic
C0020538
Hypertensive disease
group
hypertension
5443
POMC
ACTH
CTD_human
17,324,744
Given that BH(4) failed to prevent ACTH or Dex hypertension, folic acid is unlikely to be acting through increased BH(4) production.
0.203846
Given that BH(4) failed to prevent <span class="gene" id="17324744-13-35-39">ACTH</span> or Dex <span class="disease" id="17324744-13-47-59">hypertension</span>, folic acid is unlikely to be acting through increased BH(4) production.
CTD_human
null
null
Negative
MESH:D003875
null
null
eruptions
109880
null
BRAF
null
28,188,628
Differential diagnosis can be difficult with CMPE provoked by other therapies as was seen in our comparison group of anti-BRAF-induced eruptions.
null
null
null
1
0
Biomarker
C0014556
Epilepsy, Temporal Lobe
disease
temporal lobe epilepsy
7421
VDR
vitamin D receptor
CTD_human
18,534,255
Expression of vitamin D receptor mRNA in the hippocampal formation of rats submitted to a model of temporal lobe epilepsy induced by pilocarpine.
0.200549
Expression of <span class="gene" id="18534255-0-14-32">vitamin D receptor</span> mRNA in the hippocampal formation of rats submitted to a model of <span class="disease" id="18534255-0-99-121">temporal lobe epilepsy</span> induced by pilocarpine.
CTD_human
2
0
Biomarker
C0853897
Diabetic Cardiomyopathies
disease
diabetic cardiomyopathy
186
AGTR2
AT2
CTD_human
16,025,228
A high expression of AT2 may accelerate the apoptosis of cardiomyocytes in diabetic rats and play a role in precipitating diabetic cardiomyopathy; taurine may protect diabetic rats from developing cardiomyopathy also by downregulating AT2 receptors.
0.2
A high expression of AT2 may accelerate the apoptosis of cardiomyocytes in diabetic rats and play a role in precipitating <span class="disease" id="16025228-19-122-145">diabetic cardiomyopathy</span>; taurine may protect diabetic rats from developing cardiomyopathy also by downregulating <span class="gene" id="16025228-19-235-238">AT2</span> receptors.
CTD_human
1
0
Biomarker
C0027819
Neuroblastoma
disease
neuroblastoma
26038
CHD5
CHD5
CTD_human
26,121,086
Recurrent alterations at relapse included mutations in the putative CHD5 neuroblastoma tumor suppressor, chromosome 9p losses, DOCK8 mutations, inactivating mutations in PTPN14 and a relapse-specific activity pattern for the PTPN14 target YAP.
0.203571
Recurrent alterations at relapse included mutations in the putative <span class="gene" id="26121086-6-68-72">CHD5</span> <span class="disease" id="26121086-6-73-86">neuroblastoma</span> tumor suppressor, chromosome 9p losses, DOCK8 mutations, inactivating mutations in PTPN14 and a relapse-specific activity pattern for the PTPN14 target YAP.
CTD_human
null
null
Negative
MESH:D014947
null
null
neuropathic injury
29251
null
thrombin
null
28,059,686
CONCLUSIONS The findings of this study suggest a potent role for spinal thrombin and its activation of PAR1 in pain onset following neuropathic injury.
null
null
null
1
0
Biomarker
C0014859
Esophageal Neoplasms
group
esophageal cancer
406991
MIR21
miR-21
CTD_human
21,248,297
Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e.g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.
0.203846
Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with <span class="disease" id="21248297-2-79-96">esophageal cancer</span> who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e.g., let-7a, let-7g, <span class="gene" id="21248297-2-307-313">miR-21</span>, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.
CTD_human
null
null
Negative
MESH:D018149
null
null
OGD
12125
null
Bim
null
28,093,478
Silencing of Malat1 also significantly aggravated OGD-induced expression of the proapoptotic factor Bim and proinflammatory cytokines MCP-1, IL-6, and E-selectin.
null
null
null
null
null
Negative
MESH:C565957
null
null
ALS
6647
null
SOD1
null
28,126,529
The example examined in this review is the ALS associated protein SOD1 that apparently retains its in-vitro properties in vivo.
null
null
null
null
null
Negative
MESH:D008414
null
null
bovine mastitis
280846
null
lactoferrin
null
28,169,551
This minireview describes lactoferrin research concerning bovine mastitis.
null
null
null
null
null
Negative
MESH:D005355
null
null
fibrosis
24498
null
IL-6
null
28,115,235
Pirfenidone, a recently approved treatment for idiopathic pulmonary fibrosis (IPF), significantly counteracted bleomycin-induced pro-fibrotic genes expression, but did not exert significant effects on IL-1b and IL-6.
null
null
null
null
null
Negative
MESH:D016066
null
null
MPE
238
null
ALK
null
28,018,791
CASE DESCRIPTION: A 50-year old man diagnosed with stage IV lung adenocarcinoma presented with MPE and an ALK fusion gene mutation.
null
null
null
1
0
Biomarker
C0004352
Autistic Disorder
disease
autistic
3346
HTN1
histatin 1
CTD_human
19,367,726
Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p < 0.0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p < 0.005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%).
0.2
Phosphorylation level of four specific salivary phospho-peptides, namely statherin, <span class="gene" id="19367726-2-84-94">histatin 1</span> (both, p &lt; 0.0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p &lt; 0.005) was found significantly lower in <span class="disease" id="19367726-2-229-237">autistic</span> patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%).
CTD_human
null
null
Negative
MESH:D007863
null
null
PAT
55625
null
DHHC7
null
28,057,756
Here we report that among 23 mammalian DHHC proteins, DHHC7 is the major Glut4 PAT, based on evidence that ectopic expression of DHHC7 increased Glut4 palmitoylation, whereas DHHC7 knockdown in 3T3-L1 adipocytes and DHHC7 KO in adipose tissue and muscle decreased Glut4 palmitoylation.
null
null
null
null
null
Negative
MESH:D030342
null
null
progressive disease
2247
null
FGF2
null
28,022,551
Pts with RECIST response continued on open-label B, those with progressive disease (PD) went off study, and those with stable disease (SD) were randomized 1:1 to B or placebo (P), stratified by FGF2 expression (IHC + or -), until PD or unacceptable toxicity.
null
null
null
69
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
183
AGT
angiotensin II
CTD_human
20,231,528
Sex chromosome effects unmasked in angiotensin II-induced hypertension.
0.52
Sex chromosome effects unmasked in <span class="gene" id="20231528-0-35-49">angiotensin II</span>-induced <span class="disease" id="20231528-0-58-70">hypertension</span>.
CTD_human
1
0
Biomarker
C0011849
Diabetes Mellitus
group
diabetes
3667
IRS1
IRS-1
CTD_human
10,591,678
Besides the increased frequency of diabetes, carriers showed a more atherogenic lipid profile, suggesting a potential role of the IRS-1 gene in the pathogenesis of lipid abnormalities associated with CAD.
0.210099
Besides the increased frequency of <span class="disease" id="10591678-15-35-43">diabetes</span>, carriers showed a more atherogenic lipid profile, suggesting a potential role of the <span class="gene" id="10591678-15-130-135">IRS-1</span> gene in the pathogenesis of lipid abnormalities associated with CAD.
CTD_human
1
0
Biomarker
C0027051
Myocardial Infarction
disease
MI
7137
TNNI3
cTnI
CTD_human
12,359,538
Most patients with cTnI elevations meet CK-MB criteria for MI, as well as have a high incidence of underlying significant disease.
0.206015
Most patients with <span class="gene" id="12359538-11-19-23">cTnI</span> elevations meet CK-MB criteria for <span class="disease" id="12359538-11-59-61">MI</span>, as well as have a high incidence of underlying significant disease.
CTD_human
4
0
Biomarker
C0020473
Hyperlipidemia
disease
hyperlipidemia
348
APOE
apolipoprotein(E
CTD_human
12,871,831
In aortae from apolipoprotein(E)-deficient mice (apoE(0)) with hyperlipidemia and atherosclerosis, superoxide production is largely derived from NADPH oxidase.
0.385767
In aortae from <span class="gene" id="12871831-7-15-31">apolipoprotein(E</span>)-deficient mice (apoE(0)) with <span class="disease" id="12871831-7-63-77">hyperlipidemia</span> and atherosclerosis, superoxide production is largely derived from NADPH oxidase.
CTD_human
null
null
Negative
MESH:D016720
null
null
Pneumocystis
3239
null
SPD1
null
28,012,778
RESULTS: Normal mice infected with Pneumocystis mounted a serum IgG antibody response to SPD1.
null
null
null
1
0
Biomarker
C0020538
Hypertensive disease
group
hypertension
7421
VDR
vitamin D receptor
CTD_human
11,335,187
Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes.
0.207012
Associations of blood pressure and <span class="disease" id="11335187-0-35-47">hypertension</span> with lead dose measures and polymorphisms in the <span class="gene" id="11335187-0-97-115">vitamin D receptor</span> and delta-aminolevulinic acid dehydratase genes.
CTD_human
1
0
Biomarker
C0345967
Malignant mesothelioma
disease
MM
596
BCL2
bcl-2
CTD_human
16,850,164
This speculation was partially confirmed by the detection of elevated bcl-2 expression levels in CD4 + peripheral blood T cells from patients with MM compared with those from patients with ASB or healthy donors.
0.200275
This speculation was partially confirmed by the detection of elevated <span class="gene" id="16850164-5-70-75">bcl-2</span> expression levels in CD4 + peripheral blood T cells from patients with <span class="disease" id="16850164-5-147-149">MM</span> compared with those from patients with ASB or healthy donors.
CTD_human
null
null
Negative
MESH:C566273
null
null
neutrophil serine proteases
13035
null
cathepsin G
null
28,192,517
There is now renewed attention on neutrophils and neutrophil serine proteases (NSPs) such as neutrophil elastase (NE), proteinase 3 (PR3), and cathepsin G (CG) in inflammation and autoimmunity.
null
null
null
null
null
Negative
MESH:D017695
null
null
TMA
51438
null
MAGEC2
null
28,021,061
The TMA was stained with a panel of antibodies against the following CTAg: MAGE-A1, MAGE-A3/4, NY-ESO-1, GAGE, SAGE1, NXF2/CT39, ACTL8/CT57, MAGEC1/CT7, MAGEC2/CT10 and CT45.
null
null
null
null
null
Negative
MESH:D053632
null
null
SCID
1822
null
NOD
null
28,030,837
Accordingly, the senescent HCT116 cells treated with BAF A1 when injected into NOD/SCID mice formed tumors, in contrast to the controls.Our results suggest that senescent cancer cells that appear during therapy, can be considered as dormant cells that contribute to cancer re-growth, when chemotherapeutic treatment is stopped.
null
null
null
null
null
Negative
MESH:C536528
null
null
LPS
280943
null
TNFa
null
28,166,928
Functional analysis showed that the same haplotype was a more potent inducer of IL8 expression in BEND cells in response to LPS and TNFa stimulation.
null
null
null
1
0
Biomarker
C0004096
Asthma
disease
asthma
8989
TRPA1
TRPA1
CTD_human
19,458,046
TRPA1 may represent a promising pharmacological target for the treatment of asthma and other allergic inflammatory conditions.
0.2
<span class="gene" id="19458046-13-0-5">TRPA1</span> may represent a promising pharmacological target for the treatment of <span class="disease" id="19458046-13-76-82">asthma</span> and other allergic inflammatory conditions.
CTD_human
null
null
Negative
MESH:C562645
null
null
ALP
12393
null
runt-related transcription factor 2
null
28,082,041
Collectively, our findings indicate that curculactones A or B induced osteoblast differentiation through osteogenic expression of genes such as distal-less homeobox 5 (Dlx5), runt-related transcription factor 2 (Runx2), ALP, and osteocalcin (OC).
null
null
null
null
null
Negative
MESH:D007249
null
null
inflammation
331623
null
bEnd.3
null
28,131,884
Transmission electron microscopy and blocking experiments revealed that during inflammation VSOP were endocytosed by bEnd.3.
null
null
null
1
1
Biomarker
C1863753
LIMB-MAMMARY SYNDROME
disease
LMS
8626
TP63
p63
CTD_human
11,462,173
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
0.400549
We performed <span class="gene" id="11462173-2-13-16">p63</span> mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition <span class="disease" id="11462173-2-194-215">limb-mammary syndrome</span> (<span class="disease" id="11462173-2-217-220">LMS</span>), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
CTD_human;ORPHANET
1
0
Therapeutic
C0007134
Renal Cell Carcinoma
disease
renal cell carcinoma
3440
IFNA2
interferon alpha-2B
CTD_human
8,886,046
[Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and interferon alpha-2B (IFN alpha-2B) for advanced renal cell carcinoma].
0.200549
[Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and <span class="gene" id="8886046-0-70-89">interferon alpha-2B</span> (IFN alpha-2B) for advanced <span class="disease" id="8886046-0-118-138">renal cell carcinoma</span>].
CTD_human
null
null
Negative
MESH:D018235
null
null
ASM
79784
null
myosin
null
28,126,731
Ultimately, this pressurizing stretches the ASM and may disturb the acto-myosin cross-bridges in a manner similar to LO; however, it is of a static rather than dynamic nature.
null
null
null
3
0
Biomarker
C0008370
Cholestasis
disease
cholestasis
1244
ABCC2
Mrp2
CTD_human
10,869,290
Mrp2 is essential for estradiol-17beta(beta-D-glucuronide)-induced cholestasis in rats.
0.282198
<span class="gene" id="10869290-0-0-4">Mrp2</span> is essential for estradiol-17beta(beta-D-glucuronide)-induced <span class="disease" id="10869290-0-67-78">cholestasis</span> in rats.
CTD_human
13
31
Biomarker
C0004779
Basal Cell Nevus Syndrome
disease
nevoid basal cell carcinoma syndrome
5727
PTCH1
PTCH1
CTD_human
25,876,211
The Hh signaling pathway is involved in the pathogenesis of several tumors, including nevoid basal cell carcinoma syndrome that is associated with an alteration of the patched-1 (PTCH1) gene.
0.73619
The Hh signaling pathway is involved in the pathogenesis of several tumors, including <span class="disease" id="25876211-4-86-122">nevoid basal cell carcinoma syndrome</span> that is associated with an alteration of the <span class="gene" id="25876211-4-168-177">patched-1</span> (<span class="gene" id="25876211-4-179-184">PTCH1</span>) gene.
CTD_human;ORPHANET;UNIPROT
null
null
Negative
MESH:D009369
null
null
tumor
16153
null
IL-10
null
28,068,646
Differences in nitric oxide (NO), tumor necrosis factor alpha (TNF-a), interleukin-1 beta (IL-1b), IL-6, and IL-10 were found in the bronchoalveolar lavage fluid (BALF) 6h after LPS-induced lung injury.
null
null
null
null
null
Negative
MESH:D030342
null
null
progressive disease
28509
null
DM1
null
28,146,686
Patients (pts) received T-DM1 (3.6 mg/kg IV q3w) or X (1,000 mg/m(2)PO bid, days 1-14 q3w) + L (1,250 mg PO daily) until progressive disease (PD) or unmanageable toxicity.
null
null
null
8
1
Biomarker
C0001973
Alcoholic Intoxication, Chronic
disease
alcoholism
125
ADH1B
ADH1B
CTD_human
17,590,986
To date, the only genes that have been consistently replicated across racial and ethnic groups to influence alcoholism vulnerability are polymorphisms in the alcohol-metabolizing enzymes, i.e. cytosolic alcohol dehydrogenase 1B (ADH1B) and mitochondrial aldehyde dehydrogenase 2 (ALDH2).
0.509396
To date, the only genes that have been consistently replicated across racial and ethnic groups to influence <span class="disease" id="17590986-1-108-118">alcoholism</span> vulnerability are polymorphisms in the alcohol-metabolizing enzymes, i.e. cytosolic <span class="gene" id="17590986-1-203-227">alcohol dehydrogenase 1B</span> (<span class="gene" id="17590986-1-229-234">ADH1B</span>) and mitochondrial aldehyde dehydrogenase 2 (ALDH2).
CTD_human;PSYGENET
null
null
Negative
MESH:D004827
null
null
epilepsy
20272
null
NAX
null
28,098,336
SIGNIFICANCE: These studies further suggest the potential utility of NAX 810-2 as a novel therapy for epilepsy.
null
null
null
2
0
Biomarker
C0014544
Epilepsy
disease
epilepsy
2903
GRIN2A
NR2A
CTD_human
20,890,276
Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy.
0.404121
Either GRIN2B or <span class="gene" id="20890276-3-17-23">GRIN2A</span>, encoding the NMDA receptor subunits NR2B and <span class="gene" id="20890276-3-70-74">NR2A</span>, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or <span class="disease" id="20890276-3-188-196">epilepsy</span>.
CTD_human;HPO
null
null
Negative
MESH:D009369
null
null
Neuroendocrine neoplasms
30956
null
SDH
null
28,036,268
Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1a stabilization.
null
null
null
null
null
Negative
MESH:D009369
null
null
cancer
21926
null
TNF-a
null
28,089,732
ALOX15 suppressed the TNF-a, IL-1b/NF-kB, and IL-6/STAT3 signaling pathways, which play major roles in promotion of colorectal cancer by chronic inflammation.
null
null
null
null
null
Negative
MESH:D004681
null
null
EAE
18024
null
nuclear factor-E2-related factor
null
28,050,123
To address this gap in research, we sought to determine how a deficiency in the master antioxidant transcription factor (using nuclear factor-E2-related factor [Nrf2]-deficient mice) affects visual pathology in the EAE model.
null
null
null
1
0
Biomarker
C0002452
Amelogenesis Imperfecta
disease
amelogenesis imperfecta
4054
LTBP3
LTBP3
CTD_human
25,669,657
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
0.400275
Mutations in the <span class="gene" id="25669657-0-17-50">latent TGF-beta binding protein 3</span> (<span class="gene" id="25669657-0-52-57">LTBP3</span>) gene cause brachyolmia with <span class="disease" id="25669657-0-87-110">amelogenesis imperfecta</span>.
CTD_human;HPO
1
0
Biomarker
C0079744
Diffuse Large B-Cell Lymphoma
disease
DLBCL
8085
KMT2D
MLL2
CTD_human
21,804,550
This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells.
0.201099
This analysis also revealed mutations in genes not previously implicated in <span class="disease" id="21804550-4-76-81">DLBCL</span> pathogenesis, including those regulating chromatin methylation (<span class="gene" id="21804550-4-146-150">MLL2</span>; 24% of samples) and immune recognition by T cells.
CTD_human
1
0
Biomarker
C0002940
Aneurysm
disease
aneurysms
4312
MMP1
MMP-1
CTD_human
21,742,783
In this study, we demonstrate that matrix metalloproteinase-1 (MMP-1), a collagenase expressed in atherosclerosis and aneurysms but not in the normal vessel wall, is induced in the aortic endothelium of rabbits exposed to cigarette smoke.
0.200549
In this study, we demonstrate that <span class="gene" id="21742783-2-35-61">matrix metalloproteinase-1</span> (<span class="gene" id="21742783-2-63-68">MMP-1</span>), a collagenase expressed in atherosclerosis and <span class="disease" id="21742783-2-118-127">aneurysms</span> but not in the normal vessel wall, is induced in the aortic endothelium of rabbits exposed to cigarette smoke.
CTD_human
2
0
Biomarker
C0162557
Liver Failure, Acute
disease
fulminant hepatic failure
2638
GC
Gc-globulin
CTD_human
8,666,322
Admission levels of serum Gc-globulin: predictive value in fulminant hepatic failure.
0.205466
Admission levels of serum <span class="gene" id="8666322-0-26-37">Gc-globulin</span>: predictive value in <span class="disease" id="8666322-0-59-84">fulminant hepatic failure</span>.
CTD_human
null
null
Negative
MESH:D056486
null
null
Hepatic malondialdehyde
58962
null
glutathione S-transferase
null
28,065,777
Hepatic malondialdehyde (MDA), myeloperoxidase (MPO), superoxide dismutase (SOD), glutathione S-transferase (GST), and nitric monoxide (NO) in liver were measured to explore the possible protective mechanisms.
null
null
null