AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Sensory neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.010 GeneticVariation disease BEFREE The presence of achalasia with dysphagia, adrenal insufficiency, reduced tear production, optic atrophy and peripheral motor-sensory neuropathy with axonal loss led us to clinically diagnose Allgrove syndrome even though a genetic study showed no mutations in the ALADIN gene exons. 18175081 2007