Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | phenotype | CLINVAR | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. | 28067909 | 2017 | ||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | 28807008 | 2017 | ||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR |