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