Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. 26815532 2016
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		0.710 GeneticVariation BEFREE The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. 26815532 2016
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. 25487175 2015
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. 21957196 2011
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. 17486577 2007
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721 2007
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.710 CausalMutation CLINVAR Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520 2004
dbSNP: rs137852973
rs137852973
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.710 GeneticVariation CLINVAR