Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777606
rs587777606
Entrez Id: 26580;221091;100534595
Gene Symbol: BSCL2;LRRN4CL;HNRNPUL2-BSCL2
BSCL2;LRRN4CL;HNRNPUL2-BSCL2
CUI: C4014700
Disease:
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 		0.720 GeneticVariation BEFREE The expression of BSCL2-201 in fibroblasts was significantly higher in the index case than in the healthy child, although less than in the case with homozygous PELD due to c.985C>T variant. 30903322 2019
dbSNP: rs587777606
rs587777606
Entrez Id: 26580;221091;100534595
Gene Symbol: BSCL2;LRRN4CL;HNRNPUL2-BSCL2
BSCL2;LRRN4CL;HNRNPUL2-BSCL2
CUI: C4014700
Disease:
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 		0.720 GeneticVariation BEFREE PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin). 27391332 2016
dbSNP: rs587777606
rs587777606
Entrez Id: 26580;221091;100534595
Gene Symbol: BSCL2;LRRN4CL;HNRNPUL2-BSCL2
BSCL2;LRRN4CL;HNRNPUL2-BSCL2
CUI: C4014700
Disease:
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 		A 0.720 CausalMutation CLINVAR