Disease: Hereditary Sensory and Autonomic Neuropathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Sensory and Autonomic Neuropathies
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
0.010 GeneticVariation BEFREE In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. 19651702 2009