ATL3, atlastin GTPase 3, 25923

N. diseases: 25; N. variants: 1
Disease: Pain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030193
Disease: Pain
Pain 		0.010 GeneticVariation phenotype BEFREE In a family with sensory neuropathy with loss of pain perception and destruction of the pedal skeleton we report a missense mutation in a highly conserved amino acid residue of atlastin GTPase 3 (ATL3), an endoplasmic reticulum-shaping GTPase. 24459106 2014