Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.100 | CausalMutation | CLINVAR | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | 29469822 | 2018 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. | 27075689 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Genomic analysis of primordial dwarfism reveals novel disease genes. | 24389050 | 2014 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | 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 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR |