Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652

2010
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A. 26382835

2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. 24863639

2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A conserved splicing mechanism of the LMNA gene controls premature aging. 21875900

2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 25469153

2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans. 21653823

2011
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: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 19812251

2009
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 19812251

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 12629077

2003
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: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A new seipin-associated neurodegenerative syndrome. 23564749

2013
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs. 19350291

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case. 25886484

2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. 19328042

2009
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: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Acute optic neuropathy associated with a novel MFN2 mutation. 25957633

2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. 17215403

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. 27220833

2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861

2003
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 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 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 CausalMutation CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

2014