INT333531

Context Info Confidence 0.60 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.69 Pain Relevance 0

small molecule metabolic process (CACNA1C) plasma membrane (CACNA1C) transmembrane transport (CACNA1C) cytoplasm (CACNA1C)

CACNA1C (Homo sapiens)

Pain Link Frequency Relevance Heat action potential duration 20 49.68 antagonist 2 45.60 Action potential 40 5.00 lidocaine 9 5.00 addiction 3 5.00 agonist 3 5.00 Calcium channel 2 5.00 tetrodotoxin 1 5.00 sodium channel 1 5.00 Antihistamine 1 5.00

Disease Link Frequency Relevance Heat Syndrome 8 95.36 Autism 1 86.16 Symphalangism 1 84.72 Heart Rate Under Development 4 76.00 Cv General 2 Under Development 1 67.56 Arrhythmogenic Right Ventricular Dysplasia 3 63.76 Cardiovascular Disorder Under Development 4 50.00 Arrhythmia Under Development 9 5.00 Toxicity 4 5.00 Arrhythmias 2 Under Development 3 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

It was found that the origin of this multi-system disorder was a de novo missense mutation affecting the Cav1.2 gene (one of the aliases commonly used for the CACNA1C gene).

Regulation (affecting) of Cav1.2

1) Confidence 0.60 Published 2010 Journal Philosophical transactions. Series A, Mathematical, physical, and engineering sciences Section Body Doc Link PMC2944395 Disease Relevance 0.69 Pain Relevance 0

General Comments

This test has worked.