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The most common familial TTR variants were stabilized substantially by flufenamic acid and inhibitor 1, and to a lesser extent by diflunisal, against acid-mediated fibril formation and chaotrope denaturation, suggesting that this chemotherapeutic option is viable for patients with familial transthyretin amyloidosis. | biomarker | {
"id": 5502,
"name": "PPP1R1A",
"pos": [
91,
11
]
} | {
"id": "C2751492",
"name": "AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",
"pos": [
291,
25
]
} |
The high rate of p16 gene alterations in malignant neoplasms suggests the important effect of this tumor-suppressor gene mutation on the malignant behavior of tumoral lesions. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
17,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
99,
5
]
} |
One case of der(21) duplication with ETV6/RUNX1 exhibited a novel MLL translocation variant t(6;11)(p21.1p23;q13q25), with translocation of 3' telomeric MLL and deletion of 5' centromeric MLL. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
100,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
123,
13
]
} |
Lisch nodules appear before cutaneous neurofibromas and are a useful clinical aid in the assessment of unusual cases, those in whom the diagnosis is equivocal, and children with multiple CAL spots but no family history of NF-1. | NA | {
"id": 54751,
"name": "FBLIM1",
"pos": [
187,
3
]
} | {
"id": "C0162678",
"name": "Neurofibromatoses",
"pos": [
38,
13
]
} |
Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1. | NA | {
"id": 2067,
"name": "ERCC1",
"pos": [
107,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
58,
4
]
} |
This translocation generates a CDH11-USP6 fusion gene in which the strong promoter of osteoblast cadherin 11 gene at 16q22 is fused to the entire ubiquitin-specific protease 6 coding sequence at 17p13. | NA | {
"id": 9098,
"name": "USP6",
"pos": [
146,
29
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
5,
13
]
} |
The translocation t(8;9)(p22;p24) is a rare event that results in the fusion of JAK2 to PCM1 and thus leads to the activation of the Janus Kinase 2. | NA | {
"id": 4152,
"name": "MBD1",
"pos": [
88,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
Of special note, we report new hypoxia-inducible and SOX9-regulated genes, Gdf10 and Chm-I. | biomarker | {
"id": 11061,
"name": "CNMD",
"pos": [
85,
5
]
} | {
"id": "C0003130",
"name": "Anoxia",
"pos": [
31,
7
]
} |
Among molecules related to amyloid-β metabolism, the regional distribution of PSD95 strongly correlated with the regional pattern of amyloid-β₄₂ accumulation in sporadic Alzheimer's disease and pathological ageing, whereas the regional distribution of APP as well as β-C-terminal fragment of APP were strongly associated with the regional pattern of amyloid-β₄₂ accumulation in familial Alzheimer's disease. | NA | {
"id": 351,
"name": "APP",
"pos": [
292,
3
]
} | {
"id": "C0001811",
"name": "Aging",
"pos": [
207,
6
]
} |
In vivo, administration of FIIa reduced hepatic and renal damage, increased the concentration of fibrinogen, the activities of protein C, the platelet count, APTT, PT, FDP, the level of AT-III and t-PA, decreased the level of PAI-1, and increased survival rate in LPS-induced DIC rabbits. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
127,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
97,
10
]
} |
Considering the essential role of autophagy in EGFR-TKIs treatments, we hypothesized that genetic variants in autophagy core genes might contribute to outcomes of advanced lung adenocarcinoma treated with gefitinib. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
47,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
172,
19
]
} |
Folliculin (FLCN) is a tumor-suppressor protein mutated in the Birt-Hogg-Dubé (BHD) syndrome, which associates with two paralogous proteins, folliculin-interacting protein (FNIP)1 and FNIP2, forming a complex that interacts with the AMP-activated protein kinase (AMPK). | biomarker | {
"id": 57600,
"name": "FNIP2",
"pos": [
184,
5
]
} | {
"id": "C0346010",
"name": "Multiple fibrofolliculomas",
"pos": [
79,
3
]
} |
PCP can signal through VANGL1 to modulate AP-1 target genes (e.g.MMP3) and induce invasion. | biomarker | {
"id": 81839,
"name": "VANGL1",
"pos": [
23,
6
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
82,
8
]
} |
Therefore, this novel daintain/AIF-1-p38-TNF-α pathway and insight into daintain/AIF-1 might have potential benefits in the control of tumor metastasis during cancer therapy. | biomarker | {
"id": 199,
"name": "AIF1",
"pos": [
81,
5
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
135,
16
]
} |
The substitution of tryptophan (Trp) by arginine (Arg) at position 64 in the beta3-adrenoceptor (beta3-AR) gene has been associated with obesity, diabetes mellitus, and coronary artery disease (CAD). | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
97,
5
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
137,
7
]
} |
Although sporadic and immunodeficiency-associated BLs had similar genetic profiles, endemic BLs manifested more frequent mutations in BCL7A and BCL6 and fewer genetic alterations in DNMT1, SNTB2, and CTCF. | genomic_alterations | {
"id": 605,
"name": "BCL7A",
"pos": [
134,
5
]
} | {
"id": "C0278879",
"name": "Childhood Burkitt Lymphoma",
"pos": [
92,
2
]
} |
The aberrant regulation of S100P in HCC might activate cyclin D1 and CDK expression and contribute to the mitogenic potential of tumor cells during HCC carcinogenesis. | NA | {
"id": 6286,
"name": "S100P",
"pos": [
27,
5
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
152,
14
]
} |
To determine the role of CHF1/Hey2 in pressure overload hypertrophy, we performed ascending aortic banding on wild-type and transgenic mice overexpressing CHF1/Hey2 in the myocardium. | NA | {
"id": 23493,
"name": "HEY2",
"pos": [
160,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
56,
11
]
} |
We have now identified seven MYO15A mutations that cause congenital profound neurosensory hearing loss and a possible hypomorphic allele of MYO15A associated with moderately-severe hearing loss in 1 of 8 SMS patients. | NA | {
"id": 51168,
"name": "MYO15A",
"pos": [
140,
6
]
} | {
"id": "C3874334",
"name": "Severe hearing loss",
"pos": [
174,
19
]
} |
We conducted a nationwide survey and a clinical study, and classified AxD into three types: cerebral AxD (type 1), which primarily has an infantile onset with presence of seizures, psychomotor developmental retardation, macrocephaly, and abnormalities in the superior frontal cerebral white matter observed in a brain MRI; bulbospinal AxD (type 2), which primarily has an adult onset with presence of muscle weakness, hyperreflexia, bulbar or pseudobulbar symptoms, signal abnormalities, and atrophy observed in an MRI of the medulla oblongata and upper cervical spinal cord; and an intermediate form (type 3) which has the characteristics of both. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
515,
3
]
} | {
"id": "C0151786",
"name": "Muscle Weakness",
"pos": [
401,
15
]
} |
Some hereditary phaeochromocytomas may be associated with germline mutations in VHL, RET and NF1 genes in genetic disorders such as von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2) and neurofibromatosis type 1 (NF 1), respectively. | genomic_alterations | {
"id": 5979,
"name": "RET",
"pos": [
85,
3
]
} | {
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
213,
24
]
} |
Heterozygous mutations in the coding regions of the telomerase genes, TERT and TERC, have been found in familial and sporadic cases of idiopathic interstitial pneumonia. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
70,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
117,
8
]
} |
A dipeptidyl peptidase-IV inhibitor improves hepatic steatosis and insulin resistance by AMPK-dependent and JNK-dependent inhibition of LECT2 expression. | biomarker | {
"id": 1803,
"name": "DPP4",
"pos": [
2,
23
]
} | {
"id": "C2711227",
"name": "Steatohepatitis",
"pos": [
45,
17
]
} |
Oncogenic transformation of keratinocytes results in cytoplasmic IκBα translocation associated with a massive activation of Hox. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
65,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
70,
13
]
} |
To determine whether a genetic polymorphism in the detoxification enzyme UDP-glucuronosyltransferase 2B7 (UGT2B7) predisposes to CRC, 411 Caucasian patients with sporadic CRC and 600 Caucasian controls recruited from the same geographic area were genotyped for the functional UGT2B7 H268Y polymorphism. | NA | {
"id": 7364,
"name": "UGT2B7",
"pos": [
276,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
162,
8
]
} |
These results suggest that defects in both Chfr and Mlh1 synergistically increase predisposition to tumorigenesis. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
52,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
100,
13
]
} |
Whereas serum starvation suppressed the expression of survivin, a member of the inhibitor of apoptosis protein family, its expression was sustained in the presence of BMP7. | NA | {
"id": 655,
"name": "BMP7",
"pos": [
167,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
14,
10
]
} |
To replicate our discoveries, we expanded the cohort to nine CHM patients, genotyped them for REP1 mutations, and found the same abnormalities (crystals and fatty acid abnormalities) in all patients. | NA | {
"id": 1121,
"name": "CHM",
"pos": [
94,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
168,
13
]
} |
To determine whether the blood pressure (BP) response to hydrochlorothiazide (HCTZ) was associated with the angiotensin converting-enzyme (ACE) I/D and aldosterone synthase (CYP11B2)-344T/C polymorphisms. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
139,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
25,
14
]
} |
To determine whether single-nucleotide polymorphisms (SNPs) of the eotaxin-2 and eotaxin-3 genes are associated with susceptibility to allergic rhinitis, we scanned 178 allergic rhinitis patients and 281 controls without allergic rhinitis using the direct sequencing and single-base extension (SBE) methods. | NA | {
"id": 6369,
"name": "CCL24",
"pos": [
67,
9
]
} | {
"id": "C0035455",
"name": "Rhinitis",
"pos": [
230,
8
]
} |
In the present study, we intrathecally injected a recombinant adenovirus carrying the pten gene (Ad-PTEN) to cause overexpression of PTEN in rats with contusion injured spinal cords. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
133,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
62,
10
]
} |
MiR-3978 was significantly decreased in peritoneal metastatic tissue specimens and in MKN45 cells that mimic peritoneal metastasis features. | biomarker | {
"id": 100616491,
"name": "MIR3978",
"pos": [
0,
8
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
120,
10
]
} |
In 37 patients with oral cavity squamous cell carcinoma (OSCC), we investigated the expression of a tumor-promoting, proliferation-inducing ligand (APRIL) molecule by peripheral blood neutrophils isolated from blood samples collected at presentation and three weeks after surgery, and the serum levels of TGF-β in the same samples. | NA | {
"id": 10541,
"name": "ANP32B",
"pos": [
148,
5
]
} | {
"id": "C0585362",
"name": "Squamous cell carcinoma of mouth",
"pos": [
20,
35
]
} |
The aim of the present study was to investigate a trio of functional SNPs in the promoter regions of IL6 (-174G>C, rs1800795), IL1β (-511C>T, rs16944), and TNF (-308G>A, rs1800629) as moderators of the relationship between chronic stress exposure and elevations in depressive symptoms. | genomic_alterations | {
"id": 7124,
"name": "TNF",
"pos": [
162,
3
]
} | {
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
274,
19
]
} |
Impact of GNB3-C825T, ADRB3-Trp64Arg, UCP2-3'UTR 45 bp del/ins, and PPARγ-Pro12Ala polymorphisms on Bofutsushosan response in obese subjects: a randomized, double-blind, placebo-controlled trial. | NA | {
"id": 7351,
"name": "UCP2",
"pos": [
38,
4
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
163,
5
]
} |
PTEN-independent induction of caspase-mediated cell death and reduced invasion by the focal adhesion targeting domain (FAT) in human astrocytic brain tumors which highly express focal adhesion kinase (FAK). | NA | {
"id": 948,
"name": "CD36",
"pos": [
119,
3
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
144,
12
]
} |
These findings imply a contribution of the UGT1A polymorphism associated to Gilbert's syndrome to development of the hyperbilirubinemia in G6PD deficient subjects during acute hemolytic anemia. | genomic_alterations | {
"id": 7361,
"name": "UGT1A",
"pos": [
43,
5
]
} | {
"id": "C0020433",
"name": "Hyperbilirubinemia",
"pos": [
117,
18
]
} |
We examined the status of EGFR mutations in AAH and BAC to elucidate the role they play during multistage of lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
26,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
106,
22
]
} |
The expression of PDGF-A and PDGFR were reduced in R group during inflammatory responsive and granulation formation periods (14 - 28 days after radiation, the IA value of PDGF-A varied from 14.0 +/- 1.2 to 20.3 +/- 1.2 compared with that in T group in which the IA value of PDGF-A at the same period (3 - 9 days after injury) varied from 20.0 +/- 1.6 to 28.3 +/- 1.0, and reduced gradually during scar formation period (55 days after radiation). | NA | {
"id": 5159,
"name": "PDGFRB",
"pos": [
29,
5
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
397,
4
]
} |
The overexpression of UHRF1 was correlated with the stage and grade of gastric cancer and is associated with the genotype distribution of rs2910164. | genomic_alterations | {
"id": 29128,
"name": "UHRF1",
"pos": [
22,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
71,
14
]
} |
Stat3 small interfering RNA suppressed indoxyl sulfate-induced expression of an inflammation marker gene (monocyte chemotactic protein-1), fibrosis marker genes (TGF-β(1), α-smooth muscle actin) and a subunit of nuclear factor-ĸB (p65), and attenuated a cellular senescence marker, senescence-associated β-galactosidase activity. | NA | {
"id": 64689,
"name": "GORASP1",
"pos": [
231,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
80,
12
]
} |
The content of CGRP in vulgaris psoriatic plaque lesions was higher than that of normal controls (P < 0.01). | NA | {
"id": 796,
"name": "CALCA",
"pos": [
15,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
42,
6
]
} |
These findings have specific implications on improving the properties of WT-PEDF, which is currently in preclinical development, and encourage the development of PEDF mutants as specific, neovascularization-targeting anticancer agents. | NA | {
"id": 5176,
"name": "SERPINF1",
"pos": [
162,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
188,
18
]
} |
The GSTM3 promoter polymorphism was associated with forced expiratory volume in 1 s/forced vital capacity ratio (P=0.010), and the GSTT1 genotype with emphysematous signs (P=0.008), including paraceptal (P=0.015), panlobular (P=0.031), and bullae-type (P=0.045) changes. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
131,
5
]
} | {
"id": "C0016529",
"name": "Forced expiratory volume function",
"pos": [
52,
24
]
} |
Common transcriptional changes were demonstrated for a majority of drug abuse cases (N = 34), representing a number of consistently changed functional classes: Calmodulin-related transcripts (CALM1, CALM2, CAMK2B) were decreased, while transcripts related to cholesterol biosynthesis and trafficking (FDFT1, APOL2, SCARB1), and Golgi/endoplasmic reticulum (ER) functions (SEMA3B, GCC1) were all increased. | NA | {
"id": 7869,
"name": "SEMA3B",
"pos": [
372,
6
]
} | {
"id": "C0013146",
"name": "Drug abuse",
"pos": [
67,
10
]
} |
The initial identification of the ALK gene, expressed as C-terminal part of the transforming fusion protein NPM-ALK in the t(2;5)(p23;q35) lymphoma-associated chromosomal translocation, revealed a novel receptor tyrosine kinase (RTK). | genomic_alterations | {
"id": 4869,
"name": "NPM1",
"pos": [
108,
3
]
} | {
"id": "C1332979",
"name": "Childhood Lymphoma",
"pos": [
139,
8
]
} |
Silencing the expression of HIF-1α in SW480 colon cancer cells by RNA interference abolished hypoxia induced ARC expression. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
28,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
93,
7
]
} |
To test this hypothesis, we analyzed the expression of 15 members of the BCL-2 protein family (Bax, Bak, Bok, Bcl-2, Bcl-xl, Bcl-w, Mcl-1, Bad, Bid, Bim, Bik, Bmf, Hrk, Noxa and Puma) in glioblastoma multiforme (GBM) tumors, the most frequent brain tumor in adults. | NA | {
"id": 598,
"name": "BCL2L1",
"pos": [
117,
6
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
243,
11
]
} |
A balanced t(1;11) translocation that transects the Disrupted in schizophrenia 1 (DISC1) gene shows genome-wide significant linkage for schizophrenia and recurrent major depressive disorder (rMDD) in a single large Scottish family, but genome-wide and exome sequencing-based association studies have not supported a role for DISC1 in psychiatric illness. | NA | {
"id": 27185,
"name": "DISC1",
"pos": [
325,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
19,
13
]
} |
Here, a novel allele-specific copy-number characterization of genome instability identifies and functionally validates the inappropriate expression of the meiotic gene HORMAD1 as a driver of HR deficiency in TNBC, acting to induce allelic imbalance and moderate platinum and PARP inhibitor sensitivity with implications for the use of such "scars" and expression of meiotic genes as predictive biomarkers. | NA | {
"id": 84072,
"name": "HORMAD1",
"pos": [
168,
7
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
62,
18
]
} |
In vivo NCL targeting affects breast cancer aggressiveness through miRNA regulation. | NA | {
"id": 4691,
"name": "NCL",
"pos": [
8,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
44,
14
]
} |
The interaction between SIRPα and CD47 plays an important role in regulating the phagocytosis of leukemia cells and leukemia stem cells (LSCs) by macrophages. | NA | {
"id": 140885,
"name": "SIRPA",
"pos": [
24,
5
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
116,
8
]
} |
Additionally, patients with combined GSTM1-null/GSTT1-null/GSTA1 low-activity/GSTP1-variant genotype showed 2.71-fold increased risk of developing CRC (p = 0.037). | genomic_alterations | {
"id": 2938,
"name": "GSTA1",
"pos": [
59,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
147,
3
]
} |
This report may represent the clinical effect of the APC gene mutation on the enterochromaffin cell line manifesting as recurrent carcinoid tumors in physical association with intestinal adenomas. | genomic_alterations | {
"id": 324,
"name": "APC",
"pos": [
53,
3
]
} | {
"id": "C0007095",
"name": "Carcinoid Tumor",
"pos": [
130,
16
]
} |
Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
31,
5
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
75,
17
]
} |
RMR induced a progressive increase in mean arterial pressure, urinary protein excretion and glomerular and tubulointerstitial fibrosis, which is accompanied by an increased expression of TGF-beta1, endoglin and collagen types I and IV. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
198,
8
]
} | {
"id": "C1969372",
"name": "Tubulointerstitial fibrosis",
"pos": [
107,
27
]
} |
Receptor activator of nuclear factor-kappaB (NF-kappaB) ligand (RANKL) has emerged as a major mediator of bone resorption, commonly associated with cancer and other chronic inflammatory diseases. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
45,
9
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
106,
15
]
} |
Sex-specific multivariable linear regression models showed that new and previously reported epipolymorphisms (ABCG1-CpGC3, LIPC-CpGA2, mean PLTP-CpGC, LPL-CpGA3, CETP-CpGA2, and CETP-CpGB2) significantly contribute to variations in plasma lipid levels (all P<0.001 in men and P<0.02 in women), independently of traditional predictors such as age, waist circumference, blood pressure, fasting plasma lipids and glucose levels. | NA | {
"id": 1071,
"name": "CETP",
"pos": [
178,
4
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
347,
19
]
} |
Syndecan-4 (synd4) is a heparan sulfate proteoglycan, involved in repair following tissue damage, through modulating neovascularization and inflammation. | NA | {
"id": 6383,
"name": "SDC2",
"pos": [
24,
28
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
140,
12
]
} |
Catechol-O-methyltransferase genotype as modifier of superior responses to venlafaxine treatment in major depressive disorder. | genomic_alterations | {
"id": 1312,
"name": "COMT",
"pos": [
0,
28
]
} | {
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
100,
25
]
} |
However, reduced expression of the mutant proteins and almost no transcriptional activity of the target BMP4 gene were observed, suggesting haploinsufficiency of PAX9 as the cause of non-syndromic tooth agenesis. | NA | {
"id": 652,
"name": "BMP4",
"pos": [
104,
9
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
197,
14
]
} |
These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
55,
3
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
154,
8
]
} |
The absence of ZAP-70 expression was associated with isolated del(13q14), a cytogenetic abnormality with a good prognosis, while most patients with the del(17p13) poor prognosis cytogenetic marker expressed ZAP-70 (p<10(-5)). | NA | {
"id": 7535,
"name": "ZAP70",
"pos": [
207,
6
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
76,
23
]
} |
From malaria to cancer: Computational drug repositioning of amodiaquine using PLIP interaction patterns. | biomarker | {
"id": 114971,
"name": "PTPMT1",
"pos": [
78,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
16,
6
]
} |
In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). | NA | {
"id": 5624,
"name": "PROC",
"pos": [
164,
9
]
} | {
"id": "C0155773",
"name": "Portal Vein Thrombosis",
"pos": [
249,
22
]
} |
Activation of PPARα attenuated hypoxia-induced HA-tagged HIF-1α protein expression without affecting the HA-tagged HIF-1α mutant protein level, indicating that PPARα activation promotes HIF-1α degradation in these cells. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
186,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
31,
7
]
} |
We performed methylation-specific PCR and protein analyses of 29 normal salivary glands, 23 benign, and 79 malignant salivary gland neoplasms to determine the pattern and potential diagnostic and/or biological role of the RASSF1, RARbeta2, DAPK, and MGMT tumor suppressor gene methylation in these tumors. | NA | {
"id": 4255,
"name": "MGMT",
"pos": [
250,
4
]
} | {
"id": "C0036095",
"name": "Salivary Gland Neoplasms",
"pos": [
117,
24
]
} |
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. | genomic_alterations | {
"id": 4210,
"name": "MEFV",
"pos": [
159,
4
]
} | {
"id": "C3860213",
"name": "Autoinflammatory disorder",
"pos": [
61,
25
]
} |
For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 or Irf9 have defects in the immune response but show no embryologic abnormalities. | NA | {
"id": 3660,
"name": "IRF2",
"pos": [
100,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
203,
13
]
} |
Peptides derived from CABS1 were tested in an in vivo mouse model of lipopolysaccharide (LPS)-induced neutrophilia and an ex vivo rat model of antigen-induced intestinal anaphylaxis and significantly reduced both neutrophil accumulation in bronchoalveolar lavage fluid and antigen-induced ileal contractions, respectively. | NA | {
"id": 85438,
"name": "CABS1",
"pos": [
22,
5
]
} | {
"id": "C0151683",
"name": "Neutrophilia (finding)",
"pos": [
102,
12
]
} |
Suppression of autocrine cell proliferation and tumorigenesis of human melanoma cells and fibroblast growth factor transformed fibroblasts by a kinase-deficient FGF receptor 1: evidence for the involvement of Src-family kinases. | NA | {
"id": 2263,
"name": "FGFR2",
"pos": [
161,
12
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
48,
13
]
} |
UBE2C, CCNB1, CCNB2, PLOD2, NUP210, MELK, CDC20 genes were overexpressed in tumours and in CIN3/CIS relative to both Normal and CIN1/CIN2, suggesting that they could have a role to play in the early phase of tumorigenesis. | NA | {
"id": 991,
"name": "CDC20",
"pos": [
42,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
208,
13
]
} |
Serum levels of amyloid P-component (SAP) and C-reactive protein (CRP) were determined in 260 asymptomatic Icelanders of both sexes and various age groups and in 60 members of a family with macroglobulinaemia. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
66,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
94,
12
]
} |
Anti-virus antibodies (e.g., Coxsackie B1-6, mumps, cytomegalovirus), islet cell antibodies (ICAs), and HLA-A, -B, -C, and -DR were determined in 74 IDDM patients (38 males, 36 females) and in controls. | NA | {
"id": 3105,
"name": "HLA-A",
"pos": [
104,
5
]
} | {
"id": "C0026780",
"name": "Mumps",
"pos": [
45,
5
]
} |
Plasma levels of protein C, free protein S, total protein S, thrombomodulin, activated factor VII (FVIIa), factor VII:Ag, P-selectin, tissue-type plasminogen activator, plasminogen activator inhibitor-1 were measured by enzyme linked immunosorbent assay, activity of tissue factor (aTF) by chromogenic activity assay, and activated protein C (APC) ratio, prothrombin time, aPTT, fibrinogen, D-dimmer and thrombin time by full-automated coagulation analyzer. | NA | {
"id": 5627,
"name": "PROS1",
"pos": [
50,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
379,
10
]
} |
Analysis of time-matched samples assessed for CLLU1 levels in the blood by RQ-PCR and residual disease of the marrow determined by 4-color flow cytometry revealed a correlation coefficient of 0.96 (P < 0.0001). | NA | {
"id": 574028,
"name": "CLLU1",
"pos": [
46,
5
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
86,
16
]
} |
This study explores the association between the PADI4 polymorphisms and RA risk in a multiethnic population residing in South East Asia with the goal of elucidating generalizability of association in non-Caucasian populations. | genomic_alterations | {
"id": 23569,
"name": "PADI4",
"pos": [
48,
5
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
72,
2
]
} |
The purpose of the present study was to evaluate the association of the COX-2(-765) polymorphism and susceptibility to periodontitis in Taiwanese. | genomic_alterations | {
"id": 107075310,
"name": "MTCO2P12",
"pos": [
72,
5
]
} | {
"id": "C0031099",
"name": "Periodontitis",
"pos": [
119,
13
]
} |
Meta-analysis derived (MAD) transcriptome of psoriasis defines the "core" pathogenesis of disease. | NA | {
"id": 270,
"name": "AMPD1",
"pos": [
23,
3
]
} | {
"id": "C0033860",
"name": "Psoriasis",
"pos": [
45,
9
]
} |
Thus, our results suggest that NFATc3 is a downstream target of the CXCL13/CXCR5 axis to stimulate RANKL expression in OSCC cells and implicates CXCL13 as a potential therapeutic target to prevent OSCC bone invasion/osteolysis. | NA | {
"id": 10563,
"name": "CXCL13",
"pos": [
68,
6
]
} | {
"id": "C4721411",
"name": "Osteolysis",
"pos": [
216,
10
]
} |
Transient receptor potential melastatin 2 (TRPM2) is an oxidative stress sensing calcium-permeable channel that is thought to contribute to calcium dysregulation associated with neurodegenerative diseases, including Alzheimer's disease. | NA | {
"id": 80036,
"name": "TRPM3",
"pos": [
29,
12
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
178,
26
]
} |
In contrast, MTHFR 677 C --> T has no influence on DS risk in France and Sicily, while homocysteine and MTR 2756 AG/GG genotypes are predictors of DS risk in Sicily. | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
13,
5
]
} | {
"id": "C4521042",
"name": "Complete Trisomy 21 Syndrome",
"pos": [
54,
2
]
} |
Effect of beta-adrenergic receptor antagonists on nicotine-induced tail-tremor in rats. | therapeutic | {
"id": 154,
"name": "ADRB2",
"pos": [
10,
24
]
} | {
"id": "C0234375",
"name": "Massive Tremor",
"pos": [
72,
6
]
} |
The relationship between C4 genotype with C4A and C4B serum concentrations was examined in 104 healthy lab workers and 66 children with meningococcal disease. | NA | {
"id": 720,
"name": "C4A",
"pos": [
50,
3
]
} | {
"id": "C0025303",
"name": "Meningococcal Infections",
"pos": [
136,
21
]
} |
In this study, we provide evidence that IL-22, which is also produced by Th17 cells, has a critical, first-line defense in candidiasis by controlling the growth of infecting yeasts as well as by contributing to the host's epithelial integrity in the absence of acquired Th1-type immunity. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
270,
3
]
} | {
"id": "C0006840",
"name": "Candidiasis",
"pos": [
123,
11
]
} |
NHE genes play a critical role in pH homeostasis and cellular volume regulation and can be considered candidate genes for essential hypertension and renal disease. | biomarker | {
"id": 285335,
"name": "SLC9C1",
"pos": [
0,
3
]
} | {
"id": "C0085580",
"name": "Essential Hypertension",
"pos": [
122,
22
]
} |
Distinct heterologous 5' untranslated regions (IGH, IGL, TTF) were identified fused to the BCL6 coding domain by analysis of BCL6 cDNAs in two DLCL cases and one mixed follicular lymphoma (MxFL). | NA | {
"id": 3535,
"name": "IGL",
"pos": [
52,
3
]
} | {
"id": "C0024301",
"name": "Lymphoma, Follicular",
"pos": [
168,
19
]
} |
All TERT promoter- and BRAF mutations occurred in NF1 unrelated tumors. | genomic_alterations | {
"id": 110806263,
"name": "LOC110806263",
"pos": [
4,
13
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
64,
6
]
} |
Mesenchymal stem cell (MSC) transplantation has been proposed as a potential therapeutic approach for ischemic heart disease, but the regenerative capacity of these cells decreases with age. | NA | {
"id": 9242,
"name": "MSC",
"pos": [
23,
3
]
} | {
"id": "C0151744",
"name": "Myocardial Ischemia",
"pos": [
102,
22
]
} |
The CK-gated SPF and the PCNA labeling index of an individual tumor had a good correlation (P < 0.0001), and this agreed with the result showing that DNA diploid and aneuploid tumors had equal proliferative activity (P = 0.64 and P = 0.63, respectively). | NA | {
"id": 5111,
"name": "PCNA",
"pos": [
25,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
166,
9
]
} |
In addition, the loss of DEC1 in tumour is age-dependent. | biomarker | {
"id": 8553,
"name": "BHLHE40",
"pos": [
25,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
33,
6
]
} |
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. | genomic_alterations | {
"id": 5267,
"name": "SERPINA4",
"pos": [
97,
3
]
} | {
"id": "C0020619",
"name": "Hypogonadism",
"pos": [
23,
12
]
} |
Mismatch repair (MMR) malfunction causes the accumulation of mismatches in the genome leading to genomic instability and cancer. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
17,
3
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
97,
19
]
} |
Together, the results support a role for MYO7A in the translocation of RPE65, illustrating the involvement of a molecular motor in the spatiotemporal organization of the retinoid cycle in vision. | NA | {
"id": 4647,
"name": "MYO7A",
"pos": [
41,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
54,
13
]
} |
All the men with globozoospermia studied (n = 5), corresponding to 1.2% of all infertile men, presented a homozygous DPY19L2 deletion. | NA | {
"id": 283417,
"name": "DPY19L2",
"pos": [
117,
7
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
79,
9
]
} |
(1) The expression amount of p42.3 in G1 and M phase was higher than that in S and G2 phase; (2) The space coordinate systems of different structural domains of p42.3 protein were established in Matlab7.0 software; (3) The optimal pathway of p42.3 gene in protein regulatory network in gastric cancer is Ras protein, Raf-1 protein, MEK, MAPK kinase, MAPK, tubulin, spindle protein, centromere protein and tumor. | biomarker | {
"id": 6037,
"name": "RNASE3",
"pos": [
317,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
286,
14
]
} |
This report describes a long noncoding RNA (lncRNA) that is induced by cigarette smoke extract (CSE) and experiments utilizing lncRNAs to integrate inflammation with the epithelial-mesenchymal transition (EMT) in human bronchial epithelial (HBE) cells. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
205,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
148,
12
]
} |
Loss of ERbeta expression, high PCNA expression and aneuploidy, characterized a subgroup of OGCT with a worse outcome. | NA | {
"id": 5111,
"name": "PCNA",
"pos": [
32,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
52,
10
]
} |
The role of the epidermal growth factor receptor (EGFR)/Posphorylated-Akt (P-Akt) signaling axis in regulating hypoxia-inducible factor-1alpha (HIF-1alpha) expression in vivo is not well understood and is of potential clinical importance since the extent of hypoxia in the tumor environment is thought to be an important determination of resistance to chemotherapy and radiotherapy. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
50,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
258,
7
]
} |
The preproghrelin gene codes for two gut-derived circulating peptides that have been linked to anxiety-like behaviour in rodents: ghrelin (an orexigenic, pro-obesity hormone) and obestatin. | biomarker | {
"id": 51738,
"name": "GHRL",
"pos": [
4,
13
]
} | {
"id": "C0003467",
"name": "Anxiety",
"pos": [
95,
7
]
} |