INT295974

Context Info Confidence 0.07 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 2 Disease Relevance 2.30 Pain Relevance 0.11

cell differentiation (Fgf23) extracellular space (Fgf23)

Anatomy Link Frequency fibroblast 2 Fgf23 (Rattus norvegicus)

Pain Link Frequency Relevance Heat Pain 6 55.00 abdominal pain 2 31.84 colic 2 27.28

Disease Link Frequency Relevance Heat Kidney Stones 44 99.28 Hypophosphatemia 22 84.80 Rickets 24 83.20 Disease 6 78.48 Pain 6 55.00 Abdominal Pain 2 31.84 Renal Colic 2 27.76 Scoliosis 2 9.04 Nephrocalcinosis 6 5.00 Congenital Anomalies 2 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The candidate gene region was narrowed to a 1.6 Mb region on chromosome 9q34, and the mutated gene was identified as the SLC34A3, which encodes the type 2c sodium phosphate cotransporter (NPT2c), that, with the NPT2a, is expressed at the apical domain of renal proximal tubular cells and reabsorb phosphate from the glomerular filtrate under the hormonal control of PTH and the fibroblast growth factor 23 (FGF23) [4-7].

Regulation (control) of FGF23 in fibroblast

1) Confidence 0.07 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2821378 Disease Relevance 1.15 Pain Relevance 0.06

The candidate gene region was narrowed to a 1.6 Mb region on chromosome 9q34, and the mutated gene was identified as the SLC34A3, which encodes the type 2c sodium phosphate cotransporter (NPT2c), that, with the NPT2a, is expressed at the apical domain of renal proximal tubular cells and reabsorb phosphate from the glomerular filtrate under the hormonal control of PTH and the fibroblast growth factor 23 (FGF23) [4-7].

Regulation (control) of factor 23 in fibroblast

2) Confidence 0.06 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2821378 Disease Relevance 1.15 Pain Relevance 0.06

General Comments

This test has worked.