| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | Biomarker | phenotype | BEFREE | Molecular studies included the analysis of the DYT1, DDP1/TIMM8A (deafness-dystonia peptid-1) genes and mitochondrial DNA (mtDNA). | 19930207 | 2010 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes. | 18952432 | 2008 | ||||
|
0.170 | GeneticVariation | phenotype | LHGDN | We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. | 17534980 | 2007 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. | 15390009 | 2004 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. | 11601506 | 2001 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | The clinical and neuropathological abnormalities associated with mutations in the TIMM8a gene support that this X-linked deafness-dystonia-optic neuropathy syndrome is an example of progressive neurodegeneration due to mutations in a nuclear gene necessary for some, yet unknown mitochondrial transport function. | 11803487 | 2001 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. | 10878669 | 2000 | ||||
|
0.170 | Biomarker | phenotype | HPO |