Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Indifference to Pain, Congenital, Autosomal Recessive
0.800 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. 29978519 2018
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE We confirm through electrophysiological analysis that this R1488* variant in SCN9A results in complete loss-of-function of Na<sub>v</sub>1.7, which is consistent with reports on other variants in this gene in subjects with CIP. 30037327 2018
Indifference to Pain, Congenital, Autosomal Recessive
0.800 Biomarker disease GENOMICS_ENGLAND Small fibre neuropathy. 28665811 2017
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. 27747863 2016
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE In contrast, nonfunctional mutations in SCN9A are known to underlie congenital insensitivity to pain (CIP). 25995458 2015
Indifference to Pain, Congenital, Autosomal Recessive
0.800 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE Here we describe a patient with CIP with a new mutation in SCN9A not described yet. 24188911 2014
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE Complete sequencing of the SCN9A gene in a Moroccan 3-year-old child with congenital insensitivity to pain. 25439579 2014
Indifference to Pain, Congenital, Autosomal Recessive
0.800 Biomarker disease GENOMICS_ENGLAND Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. 23596073 2013
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE In CIP case 6, we identified a novel, de novo splicing mutation (IVS8-2A>G); this splicing mutation compounded with a nonsense mutation (R523>X) and abolished SCN9A mRNA expression almost completely compared with his unaffected father. 23129781 2013
Indifference to Pain, Congenital, Autosomal Recessive
0.800 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain. 20692858 2011
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease UNIPROT 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. 20628234 2010
Indifference to Pain, Congenital, Autosomal Recessive
0.800 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
Indifference to Pain, Congenital, Autosomal Recessive
0.800 CausalMutation disease CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132 2007
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease BEFREE These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP. 17470132 2007
Indifference to Pain, Congenital, Autosomal Recessive
0.800 CausalMutation disease CLINVAR An SCN9A channelopathy causes congenital inability to experience pain. 17167479 2006
Indifference to Pain, Congenital, Autosomal Recessive
0.800 Biomarker disease GENOMICS_ENGLAND Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 14985375 2004
Indifference to Pain, Congenital, Autosomal Recessive
0.800 Biomarker disease GENOMICS_ENGLAND
Indifference to Pain, Congenital, Autosomal Recessive
0.800 Biomarker disease CTD_human
Indifference to Pain, Congenital, Autosomal Recessive
0.800 GeneticVariation disease CLINVAR