Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. | 23093928 | 2012 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. | 23093928 | 2012 | |||||
Asphyxia Neonatorum
|
0.700 | GeneticVariation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
Global developmental delay
|
0.700 | GeneticVariation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Global developmental delay
|
0.700 | GeneticVariation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 | |||||
Asphyxia Neonatorum
|
0.700 | GeneticVariation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
Asphyxia Neonatorum
|
0.700 | GeneticVariation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
Global developmental delay
|
0.700 | GeneticVariation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | GeneticVariation | CLINVAR |