| 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 | CausalMutation | CLINVAR | |||||||||||
|
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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 | Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. | 17567882 | 2007 |
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|
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0.100 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 |
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|
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0.100 | CausalMutation | CLINVAR | Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. | 19156172 | 2009 |
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|
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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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|
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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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|
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0.100 | CausalMutation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 |
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|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
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0.100 | CausalMutation | CLINVAR | A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. | 26923739 | 2016 |
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0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR |