ATL3, atlastin GTPase 3, 25923

N. diseases: 25; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
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
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
CUI: C3810194
Disease:
NEUROPATHY, HEREDITARY SENSORY, TYPE IF 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
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
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
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
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
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
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
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
dbSNP: rs587777108
rs587777108
Entrez Id: 25923;107984336
Gene Symbol: ATL3;LOC107984336
ATL3;LOC107984336
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