INT334449

Context Info Confidence 0.44 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 2 Disease Relevance 2.18 Pain Relevance 0.33

cytosol (Mvk) mRNA binding (Mvk) peroxisome (Mvk) kinase activity (Mvk) cytoplasm (Mvk)

Mvk (Mus musculus)

Pain Link Frequency Relevance Heat headache 2 67.76 abdominal pain 2 66.08 Arthritis 2 64.80 Inflammation 8 5.00

Disease Link Frequency Relevance Heat Mevalonate Kinase Deficiency 116 98.78 Hypergammaglobulinemia 2 79.92 Fever 10 76.80 Syndrome 6 75.36 Headache 2 67.76 Exanthema 2 66.96 Abdominal Pain 2 66.08 Arthritis 2 64.80 Vomiting 2 63.92 Diarrhoea 2 62.96

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

MKD is due to mutations in the MVK gene, resulting in decreased activities of mevalonate kinase (MK; EC 2.7.1.36), the first enzyme following the highly regulated 3-hydroxy-3-methylgluaryl (HMG-CoA reductase) in the isoprenoid biosynthesis pathway (Houten et al 2003a; Waterham 2006).

Transcription (activities) of mevalonate kinase associated with mevalonate kinase deficiency

1) Confidence 0.44 Published 2010 Journal J Inherit Metab Dis Section Body Doc Link PMC2946549 Disease Relevance 1.09 Pain Relevance 0.17

MKD is due to mutations in the MVK gene, resulting in decreased activities of mevalonate kinase (MK; EC 2.7.1.36), the first enzyme following the highly regulated 3-hydroxy-3-methylgluaryl (HMG-CoA reductase) in the isoprenoid biosynthesis pathway (Houten et al 2003a; Waterham 2006).

Transcription (activities) of MK associated with mevalonate kinase deficiency

2) Confidence 0.44 Published 2010 Journal J Inherit Metab Dis Section Body Doc Link PMC2946549 Disease Relevance 1.09 Pain Relevance 0.17

General Comments

This test has worked.