| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Developmental delay (disorder)
|
0.700 | CausalMutation | CLINVAR | Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. | 18413255 | 2008 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. | 18413255 | 2008 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | GeneticVariation | CLINVAR | Neurological complications of cardio-facio-cutaneous syndrome. | 18039235 | 2007 | |||||
Developmental delay (disorder)
|
0.700 | CausalMutation | CLINVAR | Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. | 17704260 | 2007 | |||||
Developmental delay (disorder)
|
0.700 | CausalMutation | CLINVAR | Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. | 17366577 | 2007 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. | 17366577 | 2007 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | GeneticVariation | CLINVAR | Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. | 17704260 | 2007 | |||||
Developmental delay (disorder)
|
0.700 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 | |||||
Developmental delay (disorder)
|
0.700 | CausalMutation | 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 | |||||
Wide spaced nipples
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Ventricular hypertrophy
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Pulmonary Stenosis
|
0.700 | GeneticVariation | CLINVAR | ||||||||
High forehead
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Low-set, posteriorly rotated ears
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Premature Birth
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Ventricular Septal Defects
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Downward slant of palpebral fissure
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Neck webbing
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Neonatal respiratory distress
|
0.700 | GeneticVariation | CLINVAR |