ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. 25637064 2015
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR ER network formation and membrane fusion by atlastin1/SPG3A disease variants. 25761634 2015
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 23233086 2013
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 23079343 2013
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 Biomarker disease GENOMICS_ENGLAND The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. 22340599 2012
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 Biomarker disease GENOMICS_ENGLAND The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. 22340599 2012
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. 20816793 2011
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 GeneticVariation disease UNIPROT Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 21194679 2011
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 Biomarker disease GENOMICS_ENGLAND Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 21194679 2011
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. 20947813 2010
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 Biomarker disease GENOMICS_ENGLAND Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. 15517445 2004
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 CausalMutation disease CLINVAR Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. 11685207 2001
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 Biomarker disease CTD_human