Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.040 GeneticVariation disease BEFREE Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA. 24816431 2014
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.040 GeneticVariation disease BEFREE A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands. 22353293 2012
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.040 GeneticVariation disease BEFREE Missense mutations in the human C10orf2 gene, encoding the mitochondrial DNA (mtDNA) helicase, co-segregate with mitochondrial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with mtDNA depletion syndrome, and infantile-onset spinocerebellar ataxia. 20659899 2010
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.040 GeneticVariation disease BEFREE After analyzing all positional candidate transcripts, we identified two point mutations in the gene C10orf2 encoding Twinkle, a mitochondrial deoxyribonucleic acid (mtDNA)-specific helicase, and a rarer splice variant Twinky, underlying IOSCA. 16135556 2005