Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.420 | Biomarker | disease | CLINGEN | Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency. | 31065540 | 2019 | ||||
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0.420 | PosttranslationalModification | disease | BEFREE | We show in this chapter a new animal model for LS based on silencing of one gene that is reported previously in clinical cases, FOXRED1. | 31273716 | 2019 | ||||
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0.420 | Biomarker | disease | BEFREE | FOXRED1 blockage could serve as a new animal model for Leigh syndrome due to defective CI, which echoes damage to corpus striatum and affection of the central dopaminergic system in this disease. | 30392038 | 2019 | ||||
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0.420 | Biomarker | disease | CLINGEN | FOXRED1 blockage could serve as a new animal model for Leigh syndrome due to defective CI, which echoes damage to corpus striatum and affection of the central dopaminergic system in this disease. | 30392038 | 2019 | ||||
|
0.420 | Biomarker | disease | CLINGEN | A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. | 27215383 | 2016 | ||||
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0.420 | Biomarker | disease | CLINGEN | FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. | 26022995 | 2015 | ||||
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0.420 | Biomarker | disease | CLINGEN | Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. | 25678554 | 2015 | ||||
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0.420 | Biomarker | disease | CLINGEN | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | 20818383 | 2010 | ||||
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0.420 | CausalMutation | disease | CLINVAR |