Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Mutations in SCN9A produce distinct human pain syndromes. 30699328 2019
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Mutations in the sodium-channel Na<sub>v</sub> 1.7, encoded by the gene SCN9A, are known to cause pain disorders. 29934995 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. 29500686 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 Biomarker disease BEFREE SCN9A is a key player in various rare monogenic pain disorders, including absence of pain or extreme pain, indicating that SCN9A is critical in human pain perception. 26168879 2015
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the SCN9A gene, which encodes voltage-gated sodium channel Nav1.7. 24817410 2014
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE It remains unclear why patients with monogenic pain disorders secondary to gain-of-function SCN9a mutations benefit from a low systemic concentration of mexiletine, which does not usually induce adverse neurological side effects. 24866741 2014
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder. 23893323 2014
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Mutations in SCN9A, encoding the alpha subunit of the voltage-gated sodium channel (Nav1.7), have caused severe pain disorders and congenital insensitivity to pain. 23006801 2012
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE SCN9A mutations cause pain syndromes other than IEM and PEPD. 21094958 2011
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE). 20635406 2010
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 Biomarker disease BEFREE A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A, the gene which encodes sodium channel Nav1.7, and pain disorders in humans, with gain-of-function mutations causing severe pain syndromes, and loss-of-function mutations causing congenital indifference to pain. 20529343 2010
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Mutations in the voltage-gated Na(V)1.7 Na(+) channel alpha1 gene SCN9A have been linked to pain disorders, such as inherited primary erythromelalgia and paroxysmal extreme pain disorder. 20074229 2010
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Several mutations in the SCN9A gene encoding for Nav1.7 have been identified as important cellular substrates for different heritable pain syndromes. 20101409 2010
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 Biomarker disease BEFREE The gene SCN9A is responsible for three human pain disorders. 20212137 2010
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE We detected a low SCN9A mutation rate in patients with primary erythermalgia, suggesting that pain syndromes in the skin may have a polygenic basis. 18347287 2008
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. 18060017 2007
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 Biomarker disease BEFREE Recent advances in the genetics of pain and pain disorders include the discovery of the role of the sodium ion channel SCN9A in neuropathic pain as well as in inability to experience pain, and of GTP cyclohydrolase (GCH1) in setting the sensitivity to pain in normal individuals and modulating liability to chronic pain. 17508172 2007
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE Together with earlier work implicating a distinct class of functional mutations in SCN9A in a distinct inherited pain syndrome, these results point to Na(V)1.7 channels as key players in signaling nociceptive information and as a potential target for drug therapy of chronic pain. 17145494 2006
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 GeneticVariation disease BEFREE A congenital pain syndrome in humans recently has been mapped to the Na(v)1.7 gene, SCN9A. 15314237 2004