Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEUROPATHY, HEREDITARY SENSORY, TYPE IF
CUI: C3810194
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
0.800 GeneticVariation UNIPROT Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. 24459106 2014
NEUROPATHY, HEREDITARY SENSORY, TYPE IF
CUI: C3810194
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
0.800 CausalMutation CLINVAR
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
Deformity
CUI: C0302142
Disease: Deformity
0.010 GeneticVariation BEFREE ATL3 Y192C delays ER-export by reducing the number of ER exit sites, reduces autophagy, fragments the Golgi and causes malformation of the nucleus. 30666337 2019
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE ATL3 Y192C delays ER-export by reducing the number of ER exit sites, reduces autophagy, fragments the Golgi and causes malformation of the nucleus. 30666337 2019
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