Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.100 | CausalMutation | CLINVAR | Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. | 30236074 | 2018 |
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0.100 | CausalMutation | CLINVAR | CO2-sensitive tRNA modification associated with human mitochondrial disease. | 29760464 | 2018 |
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0.100 | CausalMutation | CLINVAR | New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. | 22638997 | 2012 |
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0.100 | CausalMutation | CLINVAR | Mitochondrial disorder associated with newborn cardiopulmonary arrest. | 8511015 | 1993 |
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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 | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO |