Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.110 CausalMutation CLINVAR A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102

2010
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.110 CausalMutation CLINVAR Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. 30124830

2018
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.110 CausalMutation CLINVAR A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). 22009580

2012
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. 26815532

2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. 25487175

2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721

2007
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 18585921

2008
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Clinical and electrophysiological features in a French family presenting with seipinopathy. 25454168

2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

2014
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 GeneticVariation CLINVAR

Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin. 22045697

2012
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. 17486577

2007
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. 20598714

2010
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease. 26282322

2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 16427281

2006
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission. 24345054

2014
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. 21957196

2011
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 23553728

2013
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 15732094

2005
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. 25219579

2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR A new seipin-associated neurodegenerative syndrome. 23564749

2013
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 CausalMutation CLINVAR Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520

2004
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening. 21737751

2011
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 CausalMutation CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

2014
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. 17595294

2007