| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | GeneticVariation | CLINVAR | |||||||||||
|
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0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.120 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.130 | GeneticVariation | CLINVAR | Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. | 29029362 | 2018 |
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|
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0.130 | GeneticVariation | CLINVAR | HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. | 28501893 | 2017 |
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|
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0.130 | GeneticVariation | CLINVAR | Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. | 26976520 | 2016 |
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0.130 | CausalMutation | CLINVAR | [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. | 19065518 | 2008 |
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0.130 | CausalMutation | CLINVAR | New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. | 15596759 | 2004 |
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0.130 | CausalMutation | CLINVAR | |||||||||||
|
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0.130 | CausalMutation | CLINVAR | |||||||||||
|
|
0.140 | CausalMutation | CLINVAR | |||||||||||
|
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0.140 | CausalMutation | CLINVAR | |||||||||||
|
|
0.140 | GeneticVariation | CLINVAR | |||||||||||
|
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0.150 | GeneticVariation | CLINVAR |