INT254433

Context Info Confidence 0.39 First Reported 2008 Last Reported 2010 Negated 1 Speculated 0 Reported most in Body Documents 2 Total Number 3 Disease Relevance 1.51 Pain Relevance 0.03

extracellular space (Sost) mitochondrion (Lrp5) extracellular region (Sost) Golgi apparatus (Sost) endoplasmic reticulum (Lrp5) plasma membrane (Lrp5)

Lrp5 (Mus musculus) Sost (Mus musculus) Lrp5 - G171V (1)

Pain Link Frequency Relevance Heat antagonist 7 59.92 agonist 2 18.20 Pain 2 15.60 Serotonin 14 5.00 cINOD 4 5.00 midbrain 2 5.00 adenocard 2 5.00 Inflammatory response 2 5.00 Osteoarthritis 2 5.00 imagery 2 5.00

Disease Link Frequency Relevance Heat Osteopetrosis 1 97.72 Disease 25 96.36 Syndrome 10 95.44 Osteoporosis 64 91.60 Retina Disease 2 91.24 Congenital Anomalies 8 84.92 Conductive Hearing Loss 2 48.76 Facial Paralysis 2 47.64 Syndactyly 4 40.36 Pain 2 15.60

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Consistent with the skeletal overgrowth seen in patients carrying the G171V mutation in LRP5, Sost is unable to interact with the mutated version of LRP5 [70, 71].

LRP5 Neg (unable) Binding (interact) of Sost

1) Confidence 0.39 Published 2010 Journal Journal of Osteoporosis Section Body Doc Link PMC2951123 Disease Relevance 0.24 Pain Relevance 0.03

The LRP5-G171V protein can no longer be bound by several proteins (such as Dkk1, Sost, and MESD) that may normally regulate its activity.

LRP5 (G171V) Binding (bound) of Sost

2) Confidence 0.30 Published 2010 Journal Journal of Osteoporosis Section Body Doc Link PMC2951123 Disease Relevance 0.57 Pain Relevance 0

Common polymorphisms of SOST have also been demonstrated to be associated with general population variation in BMD [45,50], although this has been less well studied than LRP5.

LRP5 Binding (associated) of SOST

3) Confidence 0.26 Published 2008 Journal Arthritis Res Ther Section Body Doc Link PMC2592817 Disease Relevance 0.70 Pain Relevance 0

General Comments

This test has worked.