LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861736
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder)
SPINOCEREBELLAR ATAXIA 31 (disorder) 		0.010 GeneticVariation disease BEFREE We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). 22287014 2012