INT122812

Context Info Confidence 0.75 First Reported 2004 Last Reported 2011 Negated 5 Speculated 0 Reported most in Body Documents 130 Total Number 131 Disease Relevance 67.00 Pain Relevance 12.50

nucleoplasm (SNRNP70) mRNA processing (SNRNP70) RNA binding (SNRNP70) nucleus (SNRNP70)

Anatomy Link Frequency joint 2 plasma 1 brain 1 red blood cells 1 telomere 1 SNRNP70 (Homo sapiens) SNRNP70 - A1032G (1) SNRNP70 - A118G (1)

Pain Link Frequency Relevance Heat Catechol-O-methyltransferase 241 100.00 Arthritis 300 99.60 addiction 11 99.52 Osteoarthritis 225 99.28 rheumatoid arthritis 505 99.24 member 8 13 99.02 Migraine 587 99.00 aspirin 121 99.00 alcohol 26 98.72 Analgesic 220 98.04

Disease Link Frequency Relevance Heat Seborrhea 24 100.00 Asthma 281 99.84 Anxiety Disorder 436 99.80 Renal Disease 192 99.80 Diabetes Mellitus 1312 99.76 Seronegative Spondarthritis 48 99.60 Cv Unclassified Under Development 141 99.58 Obesity 1133 99.42 Disease 912 99.40 Carcinoma 46 99.36

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Only within the part of SCC, were neuroendocrine (NE) markers (chromogranin A [CgA], NCAM, and synaptophysin [SNP]) expressed.

Gene_expression (expressed) of SNP associated with carcinoma

1) Confidence 0.75 Published 2007 Journal Hinyokika Kiyo Section Abstract Doc Link 17702184 Disease Relevance 1.45 Pain Relevance 0.08

In contrast, htSNPs of the ten transporter genes as well as the three nuclear receptor genes under study were equally distributed, confirming previous studies of htSNPs in key transporters without major impact [1, 113, 114].

Gene_expression (distributed) of SNP

2) Confidence 0.65 Published 2009 Journal Semin Immunopathol Section Body Doc Link PMC2758170 Disease Relevance 1.19 Pain Relevance 0.04

In particular, the associations between SNP rs324987 and ACPA-negative RA (p?

Gene_expression (rs324987) of SNP associated with rheumatoid arthritis

3) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2825264 Disease Relevance 0.82 Pain Relevance 0.36

In particular, while an association signal of nominal significance is observed for several markers spread over half of the gene (110 kb from intron 2 through exon 9), best statistical evidence withstanding correction for multiple tests was obtained for SNPs rs324987 and rs10263447.

Gene_expression (rs324987) of SNP

4) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2825264 Disease Relevance 0.71 Pain Relevance 0.12

Based on the above sequencing data, linkage disequilibrium analysis results showed that all detected SNPs located in the same haploblock (Figure 1).

Gene_expression (detected) of SNP

5) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2838785 Disease Relevance 0.24 Pain Relevance 0

0.0044), and SNP rs10263447 and DAS28 (p?

Gene_expression (rs10263447) of SNP

6) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2825264 Disease Relevance 0.82 Pain Relevance 0.36

The distributions of SNPs rs2236659, rs2276077, rs10892958 and rs1461496 did not depart from the Hardy-Weinberg equilibrium in control group (P?

Gene_expression (rs2236659) of SNP

7) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2838785 Disease Relevance 0.95 Pain Relevance 0

In SLE this SNP and two other linked SNPs, the SNPs rs2070197 in the 3?

Gene_expression (rs2070197) of SNP associated with systemic lupus erythematosus

8) Confidence 0.65 Published 2008 Journal Journal of Medical Genetics Section Body Doc Link PMC2564860 Disease Relevance 0.95 Pain Relevance 0.17

Linkage disequilibrium mapping of AGTR1 and ALOX15 in these analyses suggests that regions near to tagSNPs rs6801836 on AGTR1 and rs2664593 on ALOX15 are responsible for the interactions seen in this study.

Gene_expression (rs6801836) of SNP

9) Confidence 0.65 Published 2010 Journal Environ Health Perspect Section Body Doc Link PMC2920916 Disease Relevance 0.79 Pain Relevance 0.09

For each region on SSC1 only 1-4 SNPs pass the significance level, whereas on SSC6 a total of 31 highly significant SNPs are detected.

Gene_expression (detected) of SNP

10) Confidence 0.65 Published 2010 Journal BMC Genet Section Body Doc Link PMC2889844 Disease Relevance 0 Pain Relevance 0

0.674 (95% CI 0.512–0.888)] and that of SNP rs10263447 with DAS28 [p?

Gene_expression (rs10263447) of SNP

11) Confidence 0.65 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC2825264 Disease Relevance 1.12 Pain Relevance 0.46

In analysis of the SNPs, rs4570625 and rs456946 of TPH2, they found a significant preferential transmission of haplotype G-C to OCD.

Gene_expression (analysis) of SNP associated with anxiety disorder

12) Confidence 0.65 Published 2006 Journal Yonsei Medical Journal Section Body Doc Link PMC2687723 Disease Relevance 1.07 Pain Relevance 0.27

Genotypes of the three LOXL1 SNPs were determined by direct DNA sequencing, using BigDye Terminator v3.1 Kit (Applied Biosystems, Foster City, CA) in a 3730XL capillary sequencer (Applied Biosystems).

Gene_expression (three) of SNP in capillary

13) Confidence 0.65 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2779059 Disease Relevance 0.05 Pain Relevance 0

For the SNPs rs3825942 and rs2165241, three haplotypes were observed, with the haplotype G-C being at a significantly higher frequency in cases than in controls (p=0.002, OR=12.18, 95% CI: 1.61–92.09).

Gene_expression (observed) of SNP

14) Confidence 0.65 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2779059 Disease Relevance 0.27 Pain Relevance 0

Although our current study does not allow us to pinpoint which of these three USF1 SNPs in LD is the actual causative SNP, we were able to demonstrate that an allele-dependent effect of the rs3737787 tagged LD bin on downstream genes is mediated by USF1 and not the adjacent gene F11R.

Gene_expression (three) of SNP

15) Confidence 0.65 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2730565 Disease Relevance 0.63 Pain Relevance 0

As brain 5-HT biosynthesis is regulated by TPH2 [6], [26], and TPH2 SNPs increase the risk for psychiatric disorders [27], [28], [29], we decided to further analyze the polymorphic variability of the human TPH2 gene and focused on its coding region.

Gene_expression (increase) of SNP in brain

16) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2813293 Disease Relevance 0.12 Pain Relevance 0.09

Although our current study does not allow us to pinpoint which of these three USF1 SNPs in LD is the actual causative SNP, we were able to demonstrate that an allele-dependent effect of the rs3737787 tagged LD bin on downstream genes is mediated by USF1 and not the adjacent gene F11R.

Gene_expression (which) of SNP

17) Confidence 0.65 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2730565 Disease Relevance 0.69 Pain Relevance 0

Interestingly, the SNP rs324987 that associates with ACPA-negative RA in this study is in strong LD (r2?

Gene_expression (rs324987) of SNP associated with rheumatoid arthritis

18) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2825264 Disease Relevance 0.58 Pain Relevance 0.08

Although our current study does not allow us to pinpoint which of these three USF1 SNPs in LD is the actual causative SNP, we were able to demonstrate that an allele-dependent effect of the rs3737787 tagged LD bin on downstream genes is mediated by USF1 and not the adjacent gene F11R.

Gene_expression (these) of SNP

19) Confidence 0.65 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2730565 Disease Relevance 0.68 Pain Relevance 0

They also found a trend of preferential transmission of the C allele of SNP rs4565946 to the early-onset of OCD.

Gene_expression (transmission) of SNP associated with anxiety disorder

20) Confidence 0.65 Published 2006 Journal Yonsei Medical Journal Section Body Doc Link PMC2687723 Disease Relevance 1.14 Pain Relevance 0.36

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