INT302709

Context Info Confidence 0.30 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.50 Pain Relevance 0

cytosol (Hprt) transferase activity, transferring glycosyl groups (Hprt) cytoplasm (Hprt)

Hprt (Mus musculus)

Pain Link Frequency Relevance Heat cerebral cortex 1 15.80 anesthesia 14 5.00 Dopamine 5 5.00 colic 1 5.00 midbrain 1 5.00

Disease Link Frequency Relevance Heat Disease 102 77.28 Hyperuricemia 19 64.08 Congenital Anomalies 18 62.00 Cognitive Disorder 36 61.44 Crystal Associated Disease 5 55.40 Kidney Stones 3 55.08 Neurologic Manifestations 3 47.76 Rare Diseases 1 34.88 Dystonia 48 31.88 Syndrome 8 29.80

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Another shortcoming is that mutation screening will miss the unusual cases of HPRT deficiency that are due to non-coding reductions in HPRT mRNA expression (Dawson et al., 2005; Garcia et al., 2008).

Negative_regulation (reductions) of Transcription (expression) of HPRT

1) Confidence 0.30 Published 2010 Journal Brain Section Body Doc Link PMC2842514 Disease Relevance 0.50 Pain Relevance 0

General Comments

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