Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.400 | CausalMutation | CLINVAR | Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. | 14967777 | 2004 |
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0.400 | CausalMutation | CLINVAR | Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. | 15111688 | 2004 |
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0.400 | GeneticVariation | ORPHANET | Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. | 15111688 | 2004 |
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0.400 | GeneticVariation | ORPHANET | Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. | 14967777 | 2004 |
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0.300 | GermlineCausalMutation | ORPHANET | Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. | 21931169 | 2011 |
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0.300 | GermlineCausalMutation | ORPHANET | Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. | 14967777 | 2004 |
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO |