| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. | 28155230 | 2017 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy . | 20593814 | 2010 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy . | 20593814 | 2010 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. | 19409522 | 2009 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. | 19409522 | 2009 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. | 19409522 | 2009 | ||||
|
0.710 | GeneticVariation | disease | BEFREE | The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. | 19409522 | 2009 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. | 19409522 | 2009 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND |