| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | disease | UNIPROT | Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? | 26238252 | 2016 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. | 25604853 | 2015 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | 25058219 | 2014 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. | 23022099 | 2012 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. | 23022099 | 2012 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. | 23022098 | 2012 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. | 23022099 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. | 23022098 | 2012 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human |