Disease: Hereditary Sensory Autonomic Neuropathy, Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
0.010 GeneticVariation BEFREE Moreover, hereditary sensory and autonomic neuropathy type I (HSAN I)-associated ATL3 mutations (Y192C and P338R) disrupt ATL3's association with GABARAP and impair ATL3's function in ER-phagy, suggesting that defective ER-phagy is involved in HSAN I. 30773365 2019