Disease: Hereditary Sensory and Autonomic Neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.020 GeneticVariation group BEFREE We identified a novel homozygous mutation in SCN9A from 2 Japanese families with autosomal recessive HSAN. 23596073 2013
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.020 GeneticVariation group BEFREE Complete prevention of pain has so far been seen in six distinct rare hereditary syndromes, namely the 'channelopathy-associated insensitivity to pain', caused by 13 currently identified variants in the SCN9A gene coding for the alpha-subunit of the voltage-gated sodium channel, and five maladies belonging to the hereditary sensory and autonomic neuropathy (HSAN) I-V syndromes, caused by various mutations in several genes. 18370847 2008