INT351508

Context Info Confidence 0.41 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.10 Pain Relevance 0

cytosol (HPRT1) small molecule metabolic process (HPRT1) transferase activity, transferring glycosyl groups (HPRT1) cytoplasm (HPRT1)

HPRT1 (Homo sapiens)

Pain Link Frequency Relevance Heat imagery 2 5.00 Peripheral nervous system 1 5.00 Pain 1 5.00 Potency 1 5.00

Disease Link Frequency Relevance Heat Familial Dysautonomia 121 99.58 Disease 11 5.00 Targeted Disruption 3 5.00 Rare Diseases 2 5.00 Apoptosis 2 5.00 Neurological Disease 1 5.00 Pain 1 5.00 Hypertension 1 5.00 Embryonic Lethality 1 5.00 Syndrome 1 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The assay IDs were the following: Hs00375306_m1 (PMEPA1) and Hs00293488_m1 (S100A16) for the dysregulated genes in FD, and Hs01003267_m1 (HPRT1) and Hs00293488_m1 (RPLP0) for reference genes used to normalize the data.

Localization (normalize) of HPRT1 associated with familial dysautonomia

1) Confidence 0.41 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.10 Pain Relevance 0

General Comments

This test has worked.