| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.430 | CausalMutation | CLINVAR | CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. | 25735478 | 2015 |
||||||||
|
|
0.430 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.120 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.430 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.410 | CausalMutation | CLINVAR | |||||||||||
|
|
0.150 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.450 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.130 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.400 | CausalMutation | CLINVAR | Clinical and molecular characterization of de novo loss of function variants in HNRNPU. | 28815871 | 2017 |
||||||||
|
|
0.150 | CausalMutation | CLINVAR | |||||||||||
|
|
0.150 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR |