| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.130 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | 30817854 | 2019 |
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|
|
0.100 | GeneticVariation | CLINVAR | Understanding the Epilepsy in POLG Related Disease. | 28837072 | 2017 |
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|
|
0.100 | CausalMutation | CLINVAR | Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. | 26650189 | 2016 |
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|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. | 17366577 | 2007 |
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|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. | 25803691 | 2015 |
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|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. | 17981815 | 2008 |
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|
|
0.100 | CausalMutation | CLINVAR | Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. | 27159400 | 2016 |
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|
|
0.100 | CausalMutation | CLINVAR | Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. | 17551924 | 2007 |
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|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR |