| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.150 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.150 | CausalMutation | CLINVAR | |||||||||||
|
|
0.180 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.160 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.140 | CausalMutation | CLINVAR | |||||||||||
|
|
0.140 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.130 | CausalMutation | CLINVAR | |||||||||||
|
|
0.150 | CausalMutation | CLINVAR | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.130 | GeneticVariation | CLINVAR | Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. | 29029362 | 2018 |
||||||||
|
|
0.130 | GeneticVariation | CLINVAR | HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. | 28501893 | 2017 |
||||||||
|
|
0.130 | GeneticVariation | CLINVAR | Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. | 26976520 | 2016 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR |