Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Human loss or gain-of-function mutations in the gene encoding Na<sub>v</sub>1.7 channels (SCN9A) are associated with either absence of pain, as reported for congenital insensitivity to pain, or with exacerbation of pain, as reported for primary erythromelalgia and paroxysmal extreme pain disorder. 29166836 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. 29978519 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. 27747863 2016
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Loss-of-function mutations in the SCN9A gene encoding voltage-gated sodium channel Nav1.7 cause congenital insensitivity to pain in humans and mice. 26634308 2015
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Complete sequencing of the SCN9A gene in a Moroccan 3-year-old child with congenital insensitivity to pain. 25439579 2014
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Genetic studies in families demonstrating recessively inherited channelopathy-associated insensitivity to pain have identified nonsense mutations that result in truncation of the voltage-gated sodium channel type IX subunit (SCN9A), a 113.5-kb gene comprising coding 26 exons. 24188911 2014
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE For example, the voltage-gated sodium ion channel Nav1.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Nav1.7, result in congenital insensitivity to pain, whereas gain-of-function mutations in this gene produce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and small-fibre neuropathy. 24813307 2014
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. 23129781 2013
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE This study aimed to explore the role of a nonsynonymous single-nucleotide polymorphism, 3312G>T, in SCN9A, which was identified in probands with congenital indifference to pain, but which is also present in normal controls, in the prediction of individual baseline pain perception, and postoperative pain sensitivity in the general population. 23364568 2013
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 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
0.600 GeneticVariation disease BEFREE Mutations in the SCN9A gene leading to deficiency of its protein product, Na(v)1.7, cause congenital indifference to pain (CIP). 22035805 2012
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain. 20692858 2011
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease BEFREE From human genetics, a small number of patients with mutations in the genes encoding nerve growth factor/TrkA signaling and in a particular sodium channel subunit (SCN9a, encoding Nav1.7) show congenital analgesia with limited other effects. 21455071 2011
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation 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
0.600 GermlineCausalMutation disease ORPHANET 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
0.600 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
0.600 GeneticVariation disease BEFREE A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. 20628234 2010
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease LHGDN A life without pain? Hedonists take note. 18070140 2008
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 GeneticVariation disease LHGDN Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132 2007
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 14985375 2004
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.600 Biomarker disease GENOMICS_ENGLAND