DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
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 		0.010 GeneticVariation group BEFREE De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. 31475481 2019