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However, in comparison of the severity of TD among genotypes using Poisson regression showed that Ile/Ile genotype of GST-P1 had higher AIMS score compared to Ile/Val + Val/Val genotypes (X(2) = 7.13, p = 0.008). | NA | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
118,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
75,
10
]
} |
In the subgroup of 199 metastatic NSCLC patients, patients with EGFR mutation were significantly associated with a smaller tumor size (P = 0.013) and earlier N stage (P = 0.033). | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
64,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
123,
5
]
} |
The interconnected Ras/ERK and PI3K/AKT pathways play a central role in colorectal tumorigenesis, and they are targets for elucidating mechanisms involved in attempts to induce colon cancer cell death. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
36,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
83,
13
]
} |
Lercanidipine boosts the efficacy of mesenchymal stem cell therapy in 3-NP-induced Huntington's disease model rats via modulation of the calcium/calcineurin/NFATc4 and Wnt/β-catenin signalling pathways. | biomarker | {
"id": 4776,
"name": "NFATC4",
"pos": [
157,
6
]
} | {
"id": "C0020179",
"name": "Huntington Disease",
"pos": [
83,
20
]
} |
Levels of both pipecolic acid and certain metabolites shown to be elevated in patients with PNPO mutations should be measured, and therapeutic trials of pyridoxal phosphate as well as pyridoxine should be considered early in the course of the management of infants and young children with intractable seizures. | genomic_alterations | {
"id": 55163,
"name": "PNPO",
"pos": [
92,
4
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
301,
8
]
} |
In the present study, we comprehensively examined the associations between common ADH variants [minor allele frequency (MAF) >0.05] and 11 neuropsychiatric and neurological disorders. | NA | {
"id": 4094,
"name": "MAF",
"pos": [
120,
3
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
160,
22
]
} |
MicroRNA-6809-5p mediates luteolin-induced anticancer effects against hepatoma by targeting flotillin 1. | biomarker | {
"id": 102465485,
"name": "MIR6809",
"pos": [
0,
13
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
70,
8
]
} |
Somatic mutations in JAK2, MPL and CALR are recurrently identified in most of the cases with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs). | genomic_alterations | {
"id": 4352,
"name": "MPL",
"pos": [
27,
3
]
} | {
"id": "C1292778",
"name": "Chronic myeloproliferative disorder",
"pos": [
156,
3
]
} |
X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by disproportionate short stature with a short trunk, barrel chest and absence of systemic complications. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
51,
3
]
} | {
"id": "C0264172",
"name": "Barrel chest",
"pos": [
214,
12
]
} |
RalGPS2 Is Essential for Survival and Cell Cycle Progression of Lung Cancer Cells Independently of Its Established Substrates Ral GTPases. | biomarker | {
"id": 55103,
"name": "RALGPS2",
"pos": [
0,
7
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
64,
11
]
} |
Deleted in lung and esophageal cancer 1 (DLEC1) gene was a new candidate tumor suppressor gene. | NA | {
"id": 9940,
"name": "DLEC1",
"pos": [
41,
5
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
20,
17
]
} |
Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
28,
3
]
} | {
"id": "C4551715",
"name": "Pigmentary retinopathy",
"pos": [
114,
22
]
} |
To investigate the association between the genotypes of the XRCC1-Arg399Gln (rs25487) and ERCC4-Arg415Gln (rs1800067) polymorphisms and smoking- and drinking-related larynx cancer in a Polish population. | NA | {
"id": 2072,
"name": "ERCC4",
"pos": [
90,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
136,
7
]
} |
Low C4A or C4B correlated well with RCCX mono-modular gene organization, but no association between C4 haplotypes and recurrent infections or autoimmunity was observed. | NA | {
"id": 720,
"name": "C4A",
"pos": [
11,
3
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
41,
4
]
} |
PlGF mRNA was barely detectable in keratinocytes at the ulcer margin and was not visibly increased after treatment. | NA | {
"id": 5228,
"name": "PGF",
"pos": [
0,
4
]
} | {
"id": "C0041582",
"name": "Ulcer",
"pos": [
56,
5
]
} |
There was an association between the A allele of beta2-AR G46A and greater blood pressure reduction and blunted aldosterone and PRA responses to the DASH diet. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
128,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
75,
14
]
} |
The binding capacities of several transcriptional factors, such as activating protein 2, specificity protein 1, ETS-related gene 2, and cAMP response element binding protein, which specifically bind to regions with altered methylation status decreased along with the pathological grade of glioma, and the differences between high-grade glioma and normal brain tissue were significant (P < 0.05). | NA | {
"id": 2078,
"name": "ERG",
"pos": [
112,
16
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
289,
6
]
} |
The difference of SNC19/matriptase expression was not significant in gastric cancer tissues of different histological differentiation status (P>0.05). | NA | {
"id": 6768,
"name": "ST14",
"pos": [
24,
10
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
69,
14
]
} |
We hypothesized that GSTM1 modulates NF-κB activation in bronchial epithelium in atopic asthmatics. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
21,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
81,
6
]
} |
To determine whether osteolysis after total hip arthroplasty (THA) is associated with common polymorphisms within the genes encoding the interleukin-1 (IL-1) family and IL-6, and to determine whether polymorphisms that are associated with osteolysis affect in vitro messenger RNA (mRNA) expression in human peripheral blood mononuclear cells (PBMCs) in response to wear particles. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
169,
4
]
} | {
"id": "C4721411",
"name": "Osteolysis",
"pos": [
239,
10
]
} |
AF10 was originally identified as a fusion partner of MLL in the t(10;11)(p12-p13;q23) observed in myeloid leukemia. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
78,
3
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
99,
16
]
} |
In control women delivering AGA infants, placental SPRY2 mRNA levels showed positive associations with a more adverse maternal metabolic status (higher maternal C-peptide and post-load glucose and lower HMW adiponectin), with more placental weight and with a more placental inflammatory phenotype (higher placental mRNA levels of MMP2,TNFα and CD163) (all p < 0.05 to p = 0.001). | NA | {
"id": 4313,
"name": "MMP2",
"pos": [
330,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
241,
6
]
} |
hHR23A is a modular protein containing an N-terminal ubiquitin-like (UBL) domain and two ubiquitin-associated domains (UBA1 and UBA2) separated by a xeroderma pigmentosum complementation group C binding (XPCB) domain. | NA | {
"id": 10054,
"name": "UBA2",
"pos": [
128,
4
]
} | {
"id": "C0043346",
"name": "Xeroderma Pigmentosum",
"pos": [
149,
21
]
} |
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. | NA | {
"id": 84708,
"name": "LNX1",
"pos": [
0,
4
]
} | {
"id": "C0339527",
"name": "Leber Congenital Amaurosis",
"pos": [
82,
26
]
} |
The findings raise the possibility that soluble KISS1, kisspeptins, or mimetics could be used to maintain tumor dormancy, rendering treatment of already disseminated tumor cells (i.e., micrometastases) a legitimate target. | biomarker | {
"id": 3814,
"name": "KISS1",
"pos": [
48,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
106,
5
]
} |
A spectrum of mild-to-severe CS-like symptoms occurs in Xpb, Xpd, and Xpg mice that genetically mimic patients with a disorder that combines CS symptoms with another NER syndrome, xeroderma pigmentosum. | NA | {
"id": 7376,
"name": "NR1H2",
"pos": [
166,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
14,
4
]
} |
However, allelic losses in the regions on chromosomal arms 19q and 1p harboring CIC and FUBP1 are a common feature of both, oligodendrogliomas and oligoastrocytomas. | NA | {
"id": 23152,
"name": "CIC",
"pos": [
80,
3
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
54,
4
]
} |
Because adipophilin blocks cholesterol efflux from lipid-laden cells, they may die and develop a necrotic lipid core, thereby destabilizing the plaque. | NA | {
"id": 123,
"name": "PLIN2",
"pos": [
8,
11
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
144,
6
]
} |
In the histological examination, massive hepatic necrosis induced by TA was almost completely protected by HGF produced by Ad.hHGF. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
107,
3
]
} | {
"id": "C0001364",
"name": "Massive Hepatic Necrosis",
"pos": [
33,
24
]
} |
We focus on Apolipoprotein D (ApoD), a Lipocalin expressed by glia and strongly induced upon aging, injury or neurodegeneration. | NA | {
"id": 347,
"name": "APOD",
"pos": [
12,
16
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
110,
17
]
} |
There was a decrease in blood pressure in the patients carrying the DD genotype (SBP=18.5±8.1 mmHg, DBP=15.29±7.1 mmHg) rather than the ID (SBP=4.1±3.3 mmHg, DBP=9.1±3.5 mmHg) and II genotypes (SBP= 3.0±0.2 mmHg, DBP 0.11±6.1 mmHg) of the ACE gene. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
239,
8
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
24,
14
]
} |
Targeting CD43 in A549 lung cancer cells, increased homotypic adhesion, decreased heterotypic adhesion and transendothelial migration, increased susceptibility to apoptosis and increased vulnerability to lysis by NK cells. | NA | {
"id": 6693,
"name": "SPN",
"pos": [
10,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
94,
8
]
} |
Then, siRNA against Drp1 was transfected into cells to evaluate the influence of mitochondrial fission in cancer survival. | biomarker | {
"id": 1400,
"name": "CRMP1",
"pos": [
20,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
106,
6
]
} |
Thirty-two APE patients, 32 healthy controls, and 22 non-APE patients (reported dyspnea, chest pain, or cough) were enrolled in this study. | NA | {
"id": 328,
"name": "APEX1",
"pos": [
57,
3
]
} | {
"id": "C0008031",
"name": "Chest Pain",
"pos": [
89,
10
]
} |
The role of CYP1A1, GSTM1, GSTT1, EPHX1, and NAT2 genotypes in susceptibility to malignant mesothelioma (MM) was compared in two case-control studies, previously conducted in two countries where different types of asbestos fibers have been used [Hirvonen et al., 1995. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
27,
5
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
91,
12
]
} |
They include a nonsense mutation affecting the RUNX1 gene, which is a known mutational target in AML, and a missense mutation in the putative tumor suppressor gene TLE4, which encodes a RUNX1 interacting protein. | genomic_alterations | {
"id": 861,
"name": "RUNX1",
"pos": [
47,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
142,
5
]
} |
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | genomic_alterations | {
"id": 102724560,
"name": "CBSL",
"pos": [
299,
24
]
} | {
"id": "C4521042",
"name": "Complete Trisomy 21 Syndrome",
"pos": [
372,
2
]
} |
The CX3CL1-CX3CR1 axis may be a novel target for the therapeutic intervention of bone resorbing diseases such as rheumatoid arthritis, osteoporosis, and cancer bone metastasis. | biomarker | {
"id": 1524,
"name": "CX3CR1",
"pos": [
11,
6
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
113,
20
]
} |
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
132,
10
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
121,
10
]
} |
Most end-stage renal disease kidneys display accumulation of extracellular matrix (ECM) in the renal tubular compartment (tubular interstitial fibrosis - TIF) which is strongly correlated with the future loss of renal function. | NA | {
"id": 7301,
"name": "TYRO3",
"pos": [
154,
3
]
} | {
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
5,
23
]
} |
The low dose of IGF-II that prevented hyperalgesia in contrast had no effect on hyperglycemia or obesity. | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
16,
6
]
} | {
"id": "C0020429",
"name": "Hyperalgesia",
"pos": [
38,
12
]
} |
Statistically significant trends in the relationship between alcohol consumption and hormone level dependent on oxidative capacity (ADH3 genotype) were observed for dehydroepiandrosterone sulfate and sex hormone-binding globulin (P < 0.05). | NA | {
"id": 6462,
"name": "SHBG",
"pos": [
200,
28
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
61,
19
]
} |
Members of BRCAX families are also at increased risk of pancreatic cancer, pointing to the existence of other genetic factors that increase the risk of both pancreatic cancer and breast cancer. | NA | {
"id": 60500,
"name": "BRCA3",
"pos": [
11,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
157,
17
]
} |
We have carried out a study on BRCA1 and BRCA2 along with p53 gene mutations in both sporadic as well as familial breast cancer patients from India where breast cancer is fast emerging as a major cancer among premenopausal urban women. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
31,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
85,
8
]
} |
A 26-year-old woman affected by CD with secondary amenorrhea, carrier of a homozygous 5,10-methylenetetrahydrofolate reductase mutation with hyperhomocysteinemia, was affected by two occipital ischemic strokes within a period of 5 mo. | NA | {
"id": 4524,
"name": "MTHFR",
"pos": [
86,
40
]
} | {
"id": "C0232940",
"name": "Secondary physiologic amenorrhea",
"pos": [
40,
20
]
} |
However the role of BNIP3 in the hypoxia response has proved difficult to define and remains controversial. | NA | {
"id": 664,
"name": "BNIP3",
"pos": [
20,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
33,
7
]
} |
The relationships between serum THBS1 level and obesity/diabetes traits as well as the diagnostic components of metabolic syndrome were assessed in 164 normal-weight or overweight/obese subjects (78 males and 86 females; mean age, 50.4; mean BMI, 29.8) with analysis of covariance (ANCOVA) and regression analyses. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
32,
5
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
169,
10
]
} |
Previous work from our group demonstrated that mice deficient in Regulator of G-protein Signaling 10 (RGS10), a microglia-enriched GTPase activating protein (GAP) for G-protein α subunits, displayed increased microglial burden in the CNS at birth and developed a parkinsonian phenotype after exposure to chronic systemic inflammation, implicating a neuroprotective role for RGS10 in the nigrostriatal pathway. | NA | {
"id": 5921,
"name": "RASA1",
"pos": [
158,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
321,
12
]
} |
Loss of cervical lordosis and ROM was significantly larger in the cervical LF group (P = 0.0296, P = 0.0004). | biomarker | {
"id": 6094,
"name": "ROM1",
"pos": [
30,
3
]
} | {
"id": "C0948722",
"name": "Loss of cervical lordosis",
"pos": [
0,
25
]
} |
The monosomy of chromosome 19, which bears the intercellular cell adhesion molecule-1, newly found in this case, may be related to the unique tumour embolisation of IVL. | NA | {
"id": 3713,
"name": "IVL",
"pos": [
165,
3
]
} | {
"id": "C0026499",
"name": "Monosomy",
"pos": [
4,
8
]
} |
In this study, we investigated three of the LOXL1 polymorphisms in POAG in a southern Chinese population of Hong Kong and northern Chinese from Beijing. | genomic_alterations | {
"id": 4016,
"name": "LOXL1",
"pos": [
44,
5
]
} | {
"id": "C0339573",
"name": "Glaucoma, Primary Open Angle",
"pos": [
67,
4
]
} |
Two translocation breakpoints in 11p13 (one associated with familial aniridia and one with a sporadic case of congenital renal dysfunction resulting from urethral and ureteral atresia) map within this SRO. | NA | {
"id": 161003,
"name": "STOML3",
"pos": [
201,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
93,
8
]
} |
Chromatin immunoprecipitation analysis showed that HDACi caused the dissociation of SP1, HDAC3 and CBP from EGFR promoter. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
108,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
68,
12
]
} |
In the Harderian gland, the incidences of hyperplasia and adenomas were significantly lower in Cyp2e1-/- compared to Cyp2e+/+ mice at the 10 mg/kg dose, with no significant differences observed at the high or low doses. | NA | {
"id": 1571,
"name": "CYP2E1",
"pos": [
95,
6
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
42,
11
]
} |
Pin1 is a peptidyl-prolyl cis/trans isomerase that stabilizes beta-catenin by inhibiting its binding to the adenomatous polyposis coli gene product and subsequent glycogen synthase kinase 3beta (GSK-3beta)-dependent degradation. | NA | {
"id": 23037,
"name": "PDZD2",
"pos": [
0,
4
]
} | {
"id": "C0032580",
"name": "Adenomatous Polyposis Coli",
"pos": [
108,
26
]
} |
The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve. | NA | {
"id": 3643,
"name": "INSR",
"pos": [
82,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
229,
6
]
} |
Recently, the presence of novel tissue specific autoantibodies (TSAs), SP-1, CA6, and PSP, has been observed in the early stages of SS. | biomarker | {
"id": 140683,
"name": "BPIFA2",
"pos": [
86,
3
]
} | {
"id": "C1527336",
"name": "Sjogren's Syndrome",
"pos": [
132,
2
]
} |
We evaluated the association between MPO G-463A polymorphism and the prevalence of proteinuria and estimated GFR (eGFR) in 1448 Japanese type 2 diabetic subjects. | NA | {
"id": 9771,
"name": "RAPGEF5",
"pos": [
109,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
83,
11
]
} |
Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43. | NA | {
"id": 2697,
"name": "GJA1",
"pos": [
179,
11
]
} | {
"id": "C4318382",
"name": "Cardiac Conduction Defects",
"pos": [
33,
26
]
} |
The biologic aggressiveness of this tumor type may, in part, be related to its lack of CD44 expression. | NA | {
"id": 960,
"name": "CD44",
"pos": [
87,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
13,
14
]
} |
Since inhalation is the most likely route of exposure to OP nerve agents on the battlefield or in public places, the aim of this study was to evaluate the efficacy of Hu BChE against whole-body inhalation exposure to sarin (GB) vapor. | NA | {
"id": 590,
"name": "BCHE",
"pos": [
170,
4
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
6,
10
]
} |
The ability of HDAC1 to cause muscle atrophy required its deacetylase activity and was linked to the induction of several atrophy genes by HDAC1, including atrogin-1, which required deacetylation of FoxO3a. | NA | {
"id": 3065,
"name": "HDAC1",
"pos": [
139,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
122,
7
]
} |
Our data indicate an association between Th1 and Th2 immune responses and the development of gastric cancer and peptic ulcer disease respectively. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
41,
3
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
93,
14
]
} |
Hence, PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR. | NA | {
"id": 5251,
"name": "PHEX",
"pos": [
7,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
42,
8
]
} |
Bullous pemphigoid (BP) is an autoimmune blistering disease caused by IgG autoantibodies targeting the noncollagenous 16A (NC16A) domain of human collagen 17 (hCOL17), which triggers blister formation via complement activation. | NA | {
"id": 537,
"name": "ATP6AP1",
"pos": [
118,
3
]
} | {
"id": "C0005758",
"name": "Bulla",
"pos": [
183,
7
]
} |
In the present study, we found that in prostate cancer LNCaP cells dihydrotestosterone enhanced the expression of GLUT-1, one of the HIF-1 target genes, and also that hypoxia enhanced the expression of prostate-specific antigen (PSA) that is one of the AR target genes and is involved in tumor invasion. | NA | {
"id": 354,
"name": "KLK3",
"pos": [
229,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
167,
7
]
} |
SGCE) provides a potentially valuable diagnostic tool in the rapid screening of methylation errors in placental disorders. | NA | {
"id": 8910,
"name": "SGCE",
"pos": [
0,
4
]
} | {
"id": "C0032045",
"name": "Placenta Disorders",
"pos": [
102,
19
]
} |
Human T-cell leukemia virus type I (HTLV-I) is the etiologic agent of the adult T-cell leukemia, an aggressive and often fatal malignancy of activated human CD4 T cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
157,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
127,
10
]
} |
The findings indicate a direct involvement of HTLV-I in the neurodegeneration of HAM/TSP. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
85,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
60,
17
]
} |
These results correlated with a significant decrease of LT viral load and p24 immunoexpression, a recovery of LT architecture, and a significant increase of CD4+ cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
157,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
59,
10
]
} |
It has recently been reported that mutations in PALB2 increase the risk of breast cancer by 8-9-fold by age 40 and the life time risk is ∼3-4-fold. | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
48,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
75,
13
]
} |
Kallistatin attenuated VEGF- or bFGF-induced capillary density and hemoglobin content in subcutaneously implanted Matrigel plugs in mice. | NA | {
"id": 5267,
"name": "SERPINA4",
"pos": [
0,
11
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
67,
10
]
} |
Increasing evidence suggests that substance P (SP) neurokinin-1 (NK1) receptors are involved in stress and emotional responses, representing a potential target for the treatment of anxiety and depression in humans. | biomarker | {
"id": 27087,
"name": "B3GAT1",
"pos": [
65,
3
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
193,
10
]
} |
HG upregulated TLR2 and TLR4 mRNA and protein and increased both MyD88 and non-MyD88 pathways, NF-κB p65, inflammatory biomediators, and monocyte adhesion to HMAECs. | NA | {
"id": 4615,
"name": "MYD88",
"pos": [
79,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
146,
8
]
} |
Formation of der(19)t(1;19)(q23;p13) in acute lymphoblastic leukemia. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
32,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
40,
28
]
} |
This leads to chronic inflammation, which also contributes to development of cancer.Association with <i>H. pylori</i> increases the risk of gastric carcinoma, and coexistence with EBV enhances proliferation of infected cells.Further, <i>H. pylori</i>-EBV coinfection causes chronic inflammation in pediatric patients.We have established an <i>H. pylori</i>-EBV coinfection model system using human gastric epithelial cells.We showed that <i>H. pylori</i> infection can increase the oncogenic phenotype of EBV-infected cells and that the cytotoxin-associated gene (CagA) protein encoded by <i>H. pylori</i> stimulated EBV-mediated cell proliferation in this coinfection model system. | genomic_alterations | {
"id": 6279,
"name": "S100A8",
"pos": [
612,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
77,
6
]
} |
We investigated the effect of functional polymorphisms in the MHC2TA gene (CIITA), and two additional genes; C-type lectin domain 16A (CLEC16A), in linkage disequilibrium with CIITA and Interferon-γ (IFNG), an inducer of CIITA; on bone density, bone resorption markers, bone loss and fracture risk in 75 year-old women followed for up to 10 years (OPRA n = 1003) and in young adult women (PEAK-25 n = 999). | NA | {
"id": 3458,
"name": "IFNG",
"pos": [
200,
4
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
231,
12
]
} |
In striated muscle progenitor cells (myoblasts), both, metavinculin and the R975W mutant show significantly reduced, albeit distinctive residency and exchange rates in adhesion sites as compared to vinculin. | NA | {
"id": 7414,
"name": "VCL",
"pos": [
55,
12
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
168,
8
]
} |
No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e.g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints. | NA | {
"id": 56937,
"name": "PMEPA1",
"pos": [
131,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
37,
13
]
} |
Certain hub genes were identified in the constructed differential co‑expression network, including matrix metalloproteinase 1 (MMP1), smoothened (SMO), ewing sarcoma breakpoint region 1 (EWSR1) and fasciculation and elongation protein ζ‑1 (FEZ1). | NA | {
"id": 6608,
"name": "SMO",
"pos": [
146,
3
]
} | {
"id": "C0015644",
"name": "Muscular fasciculation",
"pos": [
198,
13
]
} |
As a prelude to isolation of the gene(s) involved in this translocation, we have mapped the 18q21 breakpoint region by fluorescence in situ hybridization (FISH) of YAC and PAC clones. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
155,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
58,
13
]
} |
Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. | genomic_alterations | {
"id": 5308,
"name": "PITX2",
"pos": [
6,
5
]
} | {
"id": "C0008073",
"name": "Developmental Disabilities",
"pos": [
90,
22
]
} |
This study aimed to evaluate serum levels of sFlt-1, PlGF and endoglin in women with primary and secondary antiphospholipid Syndrome (APS) and systemic lupus erythematosus (SLE) longitudinally through pregnancy. | biomarker | {
"id": 2022,
"name": "ENG",
"pos": [
62,
8
]
} | {
"id": "C0409983",
"name": "Secondary antiphospholipid syndrome",
"pos": [
97,
35
]
} |
Intense glomerular Mx1 expression was observed in biopsy specimens from patients with LN, whereas negative staining occurred in specimens from patients with IgA nephropathy or purpura nephritis. | NA | {
"id": 4599,
"name": "MX1",
"pos": [
19,
3
]
} | {
"id": "C0034150",
"name": "Purpura",
"pos": [
176,
7
]
} |
The inactivation of Stk11 in 27% (6/22) of IPMNs versus 7% (4/56) of pancreatic adenocarcinomas suggests genetic disparities in the pathogenesis of these closely related neoplasms. | genomic_alterations | {
"id": 6794,
"name": "STK11",
"pos": [
20,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
170,
9
]
} |
Hippocampal sst(1) receptors are autoreceptors and do not affect seizures in rats. | therapeutic | {
"id": 6750,
"name": "SST",
"pos": [
12,
3
]
} | {
"id": "C4048158",
"name": "Convulsions",
"pos": [
65,
8
]
} |
weight, height, BMI, waist circumference (WC), waist-to-hip ratio (WHR), body fat distribution (DXA), serum CRP and IL-6, insulin sensitivity/resistance indices, and IL-6 174G_C gene polymorphism, in healthy non-obese Polish subjects: 232 women (age 31.4 +/- 5.5 years) and 199 men (age 30.3 +/- 6.0 years). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
166,
4
]
} | {
"id": "C0205682",
"name": "Waist-Hip Ratio",
"pos": [
47,
18
]
} |
Leptin and total and high-molecular-weight adiponectin were measured in plasma of 16 BSCL1/AGPAT2 and 19 BSCL2/seipin patients and compared with heterozygous (n = 22) or nonmutated relatives (controls, n = 30); patients with Dunnigan-type partial lipodystrophy due to lamin A/C mutations (n = 23), HIV-related lipodystrophy (n = 124), and insulin receptor dysfunctions caused by mutations or autoantibodies (n = 17). | NA | {
"id": 10555,
"name": "AGPAT2",
"pos": [
91,
6
]
} | {
"id": "C4316789",
"name": "Partial lipodystrophy",
"pos": [
239,
21
]
} |
Here, we describe a girl with a novel heterozygous NEDD4L missense variant, p.Tyr679His, and characteristic clinical findings, including bilateral periventricular nodular heterotopia, cleft palate and mild toe syndactyly. | genomic_alterations | {
"id": 23327,
"name": "NEDD4L",
"pos": [
51,
6
]
} | {
"id": "C4551969",
"name": "Bilateral Periventricular Nodular Heterotopia",
"pos": [
137,
45
]
} |
The aim of this study was to determine whether genetic variability in the encoding of genes for glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1) contributes to individual differences in susceptibility to pre-eclampsia, eclampsia, or hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
167,
5
]
} | {
"id": "C0013537",
"name": "Eclampsia",
"pos": [
248,
9
]
} |
Expression of SP-B, -C, and ABCA3 are coregulated during late gestation by transcriptional programs influenced by thyroid transcription factor-1 and forkhead box a2, transcription factors that regulate both differentiation of the respiratory epithelium and transcription of genes required for perinatal adaptation to air breathing. | NA | {
"id": 6439,
"name": "SFTPB",
"pos": [
14,
4
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
321,
9
]
} |
We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls. | NA | {
"id": 8455,
"name": "ATRN",
"pos": [
132,
4
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
61,
12
]
} |
Fluvastatin-combined with PEG-IFN/ribavirin therapy significantly improves SVR rates in patients with HCV genotype 1b and high viral load. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
30,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
127,
10
]
} |
For Latin Americans, a significant difference in individual cases versus controls was observed for FMO3 158 and 257 for schizophrenia delusions as well as hallucinations and delusions. | NA | {
"id": 2328,
"name": "FMO3",
"pos": [
99,
4
]
} | {
"id": "C0018524",
"name": "Hallucinations",
"pos": [
155,
14
]
} |
Although the replication family sample showed only a trend, combined family data remained consistent with the hypothesis of MICA-250 association independent from shared epitope (SE) alleles (TDT: P = 0.027; regression model: OR 0.56, 95% CI 0.38 to 0.83, P = 0.003). | NA | {
"id": 100507436,
"name": "MICA",
"pos": [
124,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
207,
10
]
} |
In conclusion, serum nucleosomes is more sensitive but less specific marker than CEA and CA15.3 for diagnosis of early-stage breast cancer. | NA | {
"id": 1048,
"name": "CEACAM5",
"pos": [
81,
3
]
} | {
"id": "C2986665",
"name": "Early-Stage Breast Carcinoma",
"pos": [
113,
25
]
} |
Western blot analysis showed that overexpression of hypoxia-inducible factor-1α (HIF-1α), a transcription factor, upregulated the expression of ADAM17 and HIF-1α silencing downregulated the expression of ADAM17 in hypoxia-treated HCC cells, indicating the regulation of ADAM17 by HIF-1α. | NA | {
"id": 6868,
"name": "ADAM17",
"pos": [
270,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
214,
7
]
} |
Association of the DAT1 genotype with inattentive behavior is mediated by reading ability in a general population sample. | NA | {
"id": 55885,
"name": "LMO3",
"pos": [
19,
4
]
} | {
"id": "C0424101",
"name": "Inattention",
"pos": [
38,
11
]
} |
Collectively, the data indicate that transformed HBE cells release exosomes containing miR-21, stimulating proliferation in neighboring normal HBE cells and supporting the concept that exosomal miRNAs are involved in cell-cell communication during carcinogenesis induced by environmental chemicals. | NA | {
"id": 3046,
"name": "HBE1",
"pos": [
143,
3
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
248,
14
]
} |
Hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene (TNNT2) has been associated with a high risk of sudden cardiac death (SCD) and mild left ventricular hypertrophy. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
72,
6
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
158,
4
]
} |
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