Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | Biomarker | disease | BEFREE | Most patients (198) with CMT1A carried the 17p11.2 duplication including the PMP22 gene, 45 patients with HNPP were all affected by deletion of the 17p11.2 locus, and 10 patients presented with axonal phenotypes: CMT2A (MFN2), CMT2N (AARS), and CMT1X (GJB1). | 30569560 | 2019 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. | 26032230 | 2015 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. | 26257172 | 2015 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | A practical approach to diagnosing adult onset leukodystrophies. | 24357685 | 2014 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). | 22009580 | 2012 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. | 22206013 | 2011 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. | 20045102 | 2010 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. | 20045102 | 2010 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.710 | GeneticVariation | disease | CLINVAR |