INT287566

Context Info Confidence 0.47 First Reported 2009 Last Reported 2010 Negated 4 Speculated 0 Reported most in Body Documents 5 Total Number 7 Disease Relevance 3.94 Pain Relevance 0.20

transport (Sar1b) vesicle-mediated transport (Sar1b) Golgi apparatus (Sar1b) endoplasmic reticulum (Sar1b) intracellular (Sar1b)

Anatomy Link Frequency myocardium 1 testes 1 cortex 1 intestine 1 cerebellum 1 Sar1b (Mus musculus)

Pain Link Frequency Relevance Heat Hippocampus 8 99.52 Pain 10 39.84 Action potential 3 26.24 agonist 28 5.00 fibrosis 24 5.00 Glutamate receptor 8 5.00 depression 4 5.00 nMDA receptor antagonist 4 5.00 alcohol 4 5.00 Immobilon 4 5.00

Disease Link Frequency Relevance Heat Disorder Of Lipid Metabolism 270 99.32 Coronary Heart Disease 12 99.08 Appetite Loss 15 98.32 Congenital Anomalies 48 95.44 Ocular Toxicity (including Many Sub-types) 3 90.84 Diarrhoea 30 84.00 Syndrome 18 81.44 Necrosis 3 57.32 Fragile X Syndrome 84 50.00 Cramps 3 40.28

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Interestingly, Sar1b GTPase is expressed not only in the intestine but also in the liver, muscle and brain.

Gene_expression (expressed) of Sar1b in intestine

1) Confidence 0.47 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2956717 Disease Relevance 0.87 Pain Relevance 0

This suggests that the recent description of cardiomyopathy in CRD may be related to the tissue-specific expression of abnormal Sar1b protein.

Gene_expression (expression) of Sar1b associated with coronary heart disease and disorder of lipid metabolism

2) Confidence 0.47 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2956717 Disease Relevance 1.25 Pain Relevance 0

Furthermore, the myocardium has been shown to express the Sar1b gene and secrete apo B lipoproteins [37,38].

Gene_expression (express) of Sar1b gene in myocardium associated with disorder of lipid metabolism

3) Confidence 0.47 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2956717 Disease Relevance 1.13 Pain Relevance 0

Histologic analysis of cerebellum, cortex, hippocampus and testes revealed no defects (Figure S1A, S1B, S1C, S1D, S1E, S1F, S1G, S1H, S1I, SIJ, S1K, S1L, S1M, S1N, S1O, S1P), similar to Fmr1 null mice [53],[54].

Neg (no) Gene_expression (defects) of S1B in testes associated with hippocampus

4) Confidence 0.01 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0.05

Histologic analysis of cerebellum, cortex, hippocampus and testes revealed no defects (Figure S1A, S1B, S1C, S1D, S1E, S1F, S1G, S1H, S1I, SIJ, S1K, S1L, S1M, S1N, S1O, S1P), similar to Fmr1 null mice [53],[54].

Neg (no) Gene_expression (defects) of S1B in cortex associated with hippocampus

5) Confidence 0.00 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0.05

Histologic analysis of cerebellum, cortex, hippocampus and testes revealed no defects (Figure S1A, S1B, S1C, S1D, S1E, S1F, S1G, S1H, S1I, SIJ, S1K, S1L, S1M, S1N, S1O, S1P), similar to Fmr1 null mice [53],[54].

Neg (no) Gene_expression (defects) of S1B in hippocampus associated with hippocampus

6) Confidence 0.00 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0.05

Histologic analysis of cerebellum, cortex, hippocampus and testes revealed no defects (Figure S1A, S1B, S1C, S1D, S1E, S1F, S1G, S1H, S1I, SIJ, S1K, S1L, S1M, S1N, S1O, S1P), similar to Fmr1 null mice [53],[54].

Neg (no) Gene_expression (defects) of S1B in cerebellum associated with hippocampus

7) Confidence 0.00 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0.05

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