ADD1, adducin 1, 118

N. diseases: 67; N. variants: 11
Disease: Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.130 GeneticVariation disease GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.130 GeneticVariation disease BEFREE The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3. 7959767 1994
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.130 Biomarker disease BEFREE The alpha-adducin gene maps immediately telomeric to D4S95, in a region likely to contain the HD defect, and must be scrutinized to establish whether it is the site of the HD mutation. 1345173 1992
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.130 GeneticVariation disease BEFREE Sequencing of the brain alpha-adducin cDNA from two HD patients and an age-matched control did not detect any sequence alterations specific to HD. 1284592 1992