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 | 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 | GeneticVariation | disease | CLINVAR | |||||||
|
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 | CTD_human | |||||||
|
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 | 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 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
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 | Biomarker | disease | GENOMICS_ENGLAND | A practical approach to diagnosing adult onset leukodystrophies. | 24357685 | 2014 |