INT278718

Context Info Confidence 0.43 First Reported 2009 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 2 Total Number 3 Disease Relevance 1.55 Pain Relevance 0.34

cytosol (STAT5B) nucleoplasm (STAT5B) nucleus (STAT5B) cytoplasm (STAT5B) signal transducer activity (STAT5B)

STAT5B (Homo sapiens)

Pain Link Frequency Relevance Heat Leflunomide 15 77.32 corticosteroid 3 67.32 agonist 8 64.64 methotrexate 14 63.52 Arthritis 2 50.00 cINOD 2 47.92 rheumatoid arthritis 77 5.00 Osteoarthritis 32 5.00 Inflammation 13 5.00 cytokine 8 5.00

Disease Link Frequency Relevance Heat Growth Problems 200 97.56 Immunodeficiency 2 87.48 Congenital Anomalies 2 53.56 Syndrome 4 50.24 Rheumatoid Arthritis 122 50.00 INFLAMMATION 12 47.40 Turner's Syndrome 4 46.20 Disease 31 30.52 Frailty 34 5.00 Growth Hormone Deficiency 14 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Genetic explanations for ISS have occurred in approximately 5% of the patients evaluated, including genetic mutations of the GH-IGF-1 axis, including STAT5b mutations, SHOX gene mutations, and ALS mutations.

Gene_expression (mutations) of STAT5b associated with growth problems

1) Confidence 0.43 Published 2010 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2898102 Disease Relevance 0.56 Pain Relevance 0.03

Also, it has been pointed out that the phenotype of STAT5b-deficiency is that of severe GH-resistance, and it is not likely to be mistaken for ISS.64 Perhaps the reason that ALS-deficiency has not been identified in a population of ISS patients is because the growth failure associated with it is too subtle for the affected child to be labeled as having ISS.

Gene_expression (phenotype) of STAT5b-deficiency associated with growth problems

2) Confidence 0.43 Published 2010 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2898102 Disease Relevance 0.99 Pain Relevance 0

, and p-STAT5 were also observed in their CD8+ cells and reductions in p-p38 were observed in their CD20+ cells.

Gene_expression (observed) of p-STAT5

3) Confidence 0.06 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2724743 Disease Relevance 0 Pain Relevance 0.31

General Comments

This test has worked.