INT175417

Context Info Confidence 0.29 First Reported 2003 Last Reported 2010 Negated 0 Speculated 1 Reported most in Body Documents 8 Total Number 9 Disease Relevance 6.06 Pain Relevance 0.22

phosphatase activity (SACM1L) Golgi apparatus (SACM1L) endoplasmic reticulum (SACM1L) biological_process (SACM1L)

Anatomy Link Frequency plasma 1 SACM1L (Homo sapiens)

Pain Link Frequency Relevance Heat imagery 121 85.88 peripheral neuropathy 2 74.40 Central nervous system 1 32.00 Angina 18 5.00 Inflammation 10 5.00 Pain 3 5.00 Somatostatin 2 5.00 iatrogenic 1 5.00 cerebral cortex 1 5.00 COX-2 inhibitor 1 5.00

Disease Link Frequency Relevance Heat Coronary Artery Disease 336 100.00 Creutzfeldt Jakob Disease 52 100.00 Disorder Of Lipid Metabolism 266 99.68 Muscle Disease 51 99.64 Cancer 86 99.00 Inflammatory Bowel Disease 36 92.96 Lung Cancer 76 92.80 Congenital Anomalies 27 85.52 Hypertension 162 83.52 Scrapie 3 80.60

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

In the present study, both the Sac1 SNP and -75G>A SNP, the minor alleles in particular, showed significant association with CAD by correspondence analysis; however the +83C>T SNP with a very low MAF (0.03) did not add any significant value to our data analysis and findings.

Sac1 Binding (add) of associated with coronary artery disease

1) Confidence 0.29 Published 2008 Journal Lipids Health Dis Section Body Doc Link PMC2556320 Disease Relevance 0.34 Pain Relevance 0

Single point analysis showed strong evidence of linkage for the Sac 1 SNP (LOD score 4.49; P < 0.0001) and a suggestive evidence of linkage for the -75G>A SNP (LOD score 2.77; P = 0.0002).

Sac 1 Binding (linkage) of

2) Confidence 0.29 Published 2008 Journal Lipids Health Dis Section Body Doc Link PMC2556320 Disease Relevance 0.53 Pain Relevance 0

Based on the suggestive linkage of the APOC3-Sac1 locus to CAD and the association of minor allele with plasma TG levels, this study was subsequently extended to include three additional SNPs in the Apo11q gene cluster.

Sac1 Binding (association) of in plasma associated with coronary artery disease

3) Confidence 0.29 Published 2008 Journal Lipids Health Dis Section Body Doc Link PMC2556320 Disease Relevance 0.59 Pain Relevance 0

QTL analysis showed suggestive evidence of linkage of the Sac1 SNP to Total Cholesterol (TC), High Density Lipoprotein-cholesterol (HDL-C) and Apolipoprotein B (ApoB) with LOD scores of 1.42, 1.72 and 1.19, respectively (P < 0.01).

Sac1 Binding (linkage) of associated with disorder of lipid metabolism

4) Confidence 0.29 Published 2008 Journal Lipids Health Dis Section Abstract Doc Link PMC2556320 Disease Relevance 0.96 Pain Relevance 0

Single point analysis showed strong evidence of linkage for the Sac 1 SNP (LOD score 4.49; P < 0.0001) and a suggestive evidence of linkage for the -75G>A SNP (LOD score 2.77; P = 0.0002).

Sac 1 Binding (linkage) of

5) Confidence 0.29 Published 2008 Journal Lipids Health Dis Section Body Doc Link PMC2556320 Disease Relevance 0.51 Pain Relevance 0

In the present study, both the Sac1 SNP and -75G>A SNP, the minor alleles in particular, showed significant association with CAD by correspondence analysis; however the +83C>T SNP with a very low MAF (0.03) did not add any significant value to our data analysis and findings.

Sac1 Binding (association) of associated with coronary artery disease

6) Confidence 0.29 Published 2008 Journal Lipids Health Dis Section Body Doc Link PMC2556320 Disease Relevance 0.28 Pain Relevance 0

Mutations in the human desmin gene (DES) were first shown to be associated with MFM; another form is associated with mutations in the gene encoding ?

mutations Binding (associated) of associated with muscle disease

7) Confidence 0.01 Published 2010 Journal Eur Radiol Section Body Doc Link PMC2940021 Disease Relevance 0.87 Pain Relevance 0.18

In the last 20 years somatic mutations have been identified and associated with the development of cancer.

mutations Binding (associated) of associated with cancer

8) Confidence 0.00 Published 2003 Journal Respir Res Section Body Doc Link PMC314397 Disease Relevance 0.89 Pain Relevance 0

Earlier age at onset is well recognized in codon 129 homozygotes in other IPD mutations (Collinge et al., 1992; Poulter et al., 1992; Mead et al., 2006), although the association with IPD associated with point mutations rather than OPRIs is less clear (Dlouhy et al., 1992).

mutations Spec (clear) Binding (recognized) of associated with creutzfeldt jakob disease

9) Confidence 0.00 Published 2008 Journal Brain Section Body Doc Link PMC2570713 Disease Relevance 0.92 Pain Relevance 0.04

General Comments

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