COX1, cytochrome c oxidase subunit I, 4512
N. diseases: 421; N. variants: 89
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. | 20064630 | 2010 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? | 19718780 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Pure myopathy associated with a novel mitochondrial tRNA gene mutation. | 16476954 | 2006 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations. | 16199753 | 2005 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. | 14605505 | 2003 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. | 11782991 | 2002 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. | 10371545 | 1999 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. | 9673981 | 1998 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. | 9778262 | 1998 | ||||||
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AC | 0.700 | CausalMutation | CLINVAR | Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. | 7581383 | 1995 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. | 7669057 | 1995 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. | 8019558 | 1994 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |