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
0.020 GeneticVariation BEFREE Moreover, 2 hereditary sensory and autonomic neuropathies type 1 (HSANI)-associated mutations of ATL3 (Tyr192Cys and Pro338Arg) impair ATL3's binding to GABARAP and function in reticulophagy. 31032711 2019
Hereditary Sensory and Autonomic Neuropathies
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
0.020 GeneticVariation BEFREE The same mutation (p.Tyr192Cys) was identified in a second family with similar clinical outcome by screening a large cohort of 115 patients with hereditary sensory and autonomic neuropathies. 24459106 2014