| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | GeneticVariation | disease | BEFREE | To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D). | 18719906 | 2009 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | A novel Val154-->Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. | 10716258 | 2000 | ||||
|
0.570 | GeneticVariation | disease | ORPHANET | |||||||
|
0.570 | GeneticVariation | disease | BEFREE | Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. | 12402271 | 2002 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | The objective of this study was to report clinical details and results of genetic testing for mutations in the epsilon-sarcoglycan (SGCE) gene, the Slit and Trk-like 1 (SLITRK1) gene and for linkage to the DYT15, DYT1, and DRD2 gene loci in a family with autosomal dominant myoclonus-dystonia (M-D) and Gilles de la Tourette syndrome (GTS). | 17702041 | 2007 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Furthermore, single variants in the dopamine D2 receptor (DRD2) and DYT1 genes were found in combination with SGCE mutations in two M-D families, and another M-D locus was recently mapped to chromosome 18p11 in one family. | 15258227 | 2004 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family). | 12391346 | 2002 | ||||
|
0.570 | Biomarker | disease | BEFREE | This region contains an excellent candidate gene for involvement in the etiology of MD, the D2 dopamine receptor (DRD2) gene. | 10220438 | 1999 | ||||
|
0.570 | Biomarker | disease | GENOMICS_ENGLAND |