| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.400 | CausalMutation | CLINVAR | |||||||||||
|
|
0.130 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. | 28792876 | 2017 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Understanding the Epilepsy in POLG Related Disease. | 28837072 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. | 26805781 | 2016 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Clinical and molecular features of POLG-related mitochondrial disease. | 23545419 | 2013 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. | 19903181 | 2010 |
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|
|
0.100 | GeneticVariation | CLINVAR | Polymerase gamma 1 mutations: clinical correlations. | 20220442 | 2010 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR |