INT308191

Context Info Confidence 0.60 First Reported 2010 Last Reported 2010 Negated 0 Speculated 1 Reported most in Body Documents 1 Total Number 12 Disease Relevance 0 Pain Relevance 0

cytoskeleton (HAP1)

HAP1 (Homo sapiens)

Pain Link Frequency Relevance Heat addiction 24 10.64 Rsd 24 5.00

Disease Link Frequency Relevance Heat Reflex Sympathetic Dystrophy 24 5.00 Loss Of Sense Of Smell 12 5.00 Sweat Gland Disease 12 5.00 Viral Infection 12 5.00 Rheumatoid Arthritis 12 5.00

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

We cannot explain the discrepancy based on differences in SNPs assayed or by the imputation of missing alleles in phased data, given that Hap2 and Hap3 genotypes yield concordant results for the same couples (Hap2?

Gene_expression (genotypes) of Hap2

1) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

This allowed us to assess differences between Hap2 and Hap3 data using Hap2?

Gene_expression (data) of Hap2

2) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

A test of the entire Hap3 cohort (thus including most Hap2 samples) also yielded an insignificant result (Z?

Gene_expression (samples) of Hap2

3) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

In addition, Hap2 and Hap3 samples appear to be drawn from the same population (Supporting Figure 4 in Text S3), suggesting an explanation other than population structure.

Gene_expression (samples) of Hap2

4) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

In Hap3, following the calculation of MAFs, the analysis procedure (detection of relatives, recalculation of Qmean, etc.) was conducted separately for the subset of Hap3 samples also present in Hap2, for all Hap3 samples, and for samples present in Hap3 only.

Gene_expression (present) of Hap2

5) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

0.0253 (see Methods), so that the previously-reported MHC relatedness in Hap2 European mates retains significance (P?

Gene_expression (relatedness) of Hap2

6) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

First, we verified that Hap2 and Hap3 genotypes were concordant for each Hap2?

Gene_expression (genotypes) of Hap2

7) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

First, we verified that Hap2 and Hap3 genotypes were concordant for each Hap2?

Gene_expression (concordant) of Hap2

8) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

We cannot explain the discrepancy based on differences in SNPs assayed or by the imputation of missing alleles in phased data, given that Hap2 and Hap3 genotypes yield concordant results for the same couples (Hap2?

Gene_expression (couples) of Hap2

9) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

3” couples were also present in Hap2 while 24 “Hap3-only” couples were unique to Hap3 (see Supporting Table 1 in Text S1).

Gene_expression (present) of Hap2

10) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

Finally, we examined the 26 independent couples present in Hap3 but not Hap2 (“Hap3-only”) and found them to confirm the previous finding of excess similarity among mate pairs (Table 2).

Spec (examined) Gene_expression (present) of Hap2

11) Confidence 0.60 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

This allowed us to assess differences between Hap2 and Hap3 data using Hap2?

Gene_expression (using) of Hap2

12) Confidence 0.53 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2861700 Disease Relevance 0 Pain Relevance 0

General Comments

This test has worked.