| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.110 | CausalMutation | CLINVAR | |||||||||||
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0.100 | GeneticVariation | CLINVAR | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 |
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0.100 | CausalMutation | CLINVAR | De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. | 24791903 | 2014 |
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|
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0.100 | 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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|
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0.100 | CausalMutation | CLINVAR | New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. | 15596759 | 2004 |
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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 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
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0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR |