Gene: BSCL2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. 26815532 2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 GeneticVariation disease BEFREE Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. 26815532 2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR Clinical and electrophysiological features in a French family presenting with seipinopathy. 25454168 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. 25219579 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission. 24345054 2014
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR A new seipin-associated neurodegenerative syndrome. 23564749 2013
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin. 22045697 2012
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. 21957196 2011
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 GeneticVariation disease BEFREE Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. 20806400 2010
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 18585921 2008
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721 2007
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 16427281 2006
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 15732094 2005
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 CausalMutation disease CLINVAR Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520 2004
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 GeneticVariation disease CLINVAR