INT106127

Context Info Confidence 0.43 First Reported 2002 Last Reported 2008 Negated 0 Speculated 1 Reported most in Abstract Documents 7 Total Number 8 Disease Relevance 7.12 Pain Relevance 0.67

plasma membrane (CASR) signal transducer activity (CASR)

CASR (Homo sapiens)

Pain Link Frequency Relevance Heat antagonist 3 100.00 agonist 3 99.86 Chronic pancreatitis 78 95.12 headache 3 94.60 Arthritis 1 93.20 Pain 3 39.68 abdominal pain 1 38.08 Glutamate 11 26.32 chemokine 7 5.00 Lasting pain 2 5.00

Disease Link Frequency Relevance Heat Hypercalcemia 105 100.00 Iron Overload 17 100.00 Pancreatitis 138 99.40 Diabetes Insipidus 1 99.08 Headache 3 94.60 Chondrodysplasia 1 93.80 Arthritis 1 93.20 Reprotox - General 2 1 92.64 Diabetes Mellitus 1 92.08 Coronary Heart Disease 1 91.68

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

While a heterozygous inactivating CASR mutation leads to FHH, homozygous mutations result in severe neonatal pHPT.

Negative_regulation (inactivating) of CASR associated with hypercalcemia

1) Confidence 0.43 Published 2003 Journal BMC Gastroenterol Section Body Doc Link PMC317302 Disease Relevance 1.49 Pain Relevance 0.07

Subsequently they identified three different CASR mutations, suggesting that they may represent distinct FHH variants with pancreatitis.

Spec (may) Negative_regulation (represent) of FHH associated with pancreatitis and hypercalcemia

2) Confidence 0.37 Published 2003 Journal BMC Gastroenterol Section Body Doc Link PMC317302 Disease Relevance 1.31 Pain Relevance 0.22

EST matches for CASR, PTHR1 and AVPR2 orthologs can be recovered in Ciona [Additional data file 2: Sheet 2].

Negative_regulation (recovered) of CASR

3) Confidence 0.28 Published 2008 Journal BMC Evol Biol Section Body Doc Link PMC2396169 Disease Relevance 0.58 Pain Relevance 0

HHC can be treated or prevented by regular phlebotomy treatments.

Negative_regulation (prevented) of HHC associated with iron overload

4) Confidence 0.26 Published 2002 Journal Best Pract Res Clin Haematol Section Abstract Doc Link 12401310 Disease Relevance 1.32 Pain Relevance 0.05

FHH is usually associated with heterozygous inactivating mutations of the CaR gene, whereas NSHPT is usually due to homozygous inactivation of the CaR gene.

Negative_regulation (inactivation) of CaR associated with hypercalcemia

5) Confidence 0.19 Published 2004 Journal J. Clin. Endocrinol. Metab. Section Abstract Doc Link 15579740 Disease Relevance 0.78 Pain Relevance 0.07

This study reinforces the fact that patients with homozygous inactivation of the CaR gene may present with severe hypercalcemia in different phases of life.

Negative_regulation (inactivation) of CaR associated with hypercalcemia

6) Confidence 0.19 Published 2004 Journal J. Clin. Endocrinol. Metab. Section Abstract Doc Link 15579740 Disease Relevance 0.57 Pain Relevance 0.07

In the present study its involvement in the effects of calcium was examined by using a CaR agonist and a CaR antagonist.

Negative_regulation (antagonist) of CaR associated with antagonist and agonist

7) Confidence 0.16 Published 2008 Journal Breast Cancer Res Section Body Doc Link PMC2374955 Disease Relevance 0.23 Pain Relevance 0.10

In this study, we report a novel inactivating mutation of the CaR gene, identified in a 9-yr-old Brazilian girl who was found to be severely hypercalcemic during investigation of a 6-month history of headaches and vomits.

Negative_regulation (inactivating) of CaR associated with headache

8) Confidence 0.14 Published 2004 Journal J. Clin. Endocrinol. Metab. Section Abstract Doc Link 15579740 Disease Relevance 0.83 Pain Relevance 0.09

General Comments

This test has worked.