| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.400 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.140 | GeneticVariation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 |
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|
|
0.140 | GeneticVariation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 |
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|
|
0.140 | GeneticVariation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 |
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|
|
0.200 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 |
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|
|
0.100 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 |
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|
|
0.100 | GeneticVariation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 |
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|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.500 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 |
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|
|
0.110 | CausalMutation | CLINVAR | Disruptive CHD8 mutations define a subtype of autism early in development. | 24998929 | 2014 |
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|
|
0.110 | CausalMutation | CLINVAR | A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. | 26789910 | 2016 |