Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Leopard Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypothyroidism
|
0.700 | CausalMutation | CLINVAR | ||||||||
Increased tendency to bruise
|
0.700 | CausalMutation | CLINVAR | ||||||||
Amblyopia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Microcephaly (physical finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thumb deformity
|
0.700 | CausalMutation | CLINVAR | ||||||||
Specific learning disability
|
0.700 | CausalMutation | CLINVAR | ||||||||
Low-set, posteriorly rotated ears
|
0.700 | CausalMutation | CLINVAR | ||||||||
Metachondromatosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hyperopia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Late tooth eruption
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Multiple lentigines syndrome. Case report and review of the literature. | 1258892 | 1976 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Multiple lentigines syndrome. Case report and review of the literature. | 1258892 | 1976 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A clinical study of Noonan syndrome. | 1543375 | 1992 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | A clinical study of Noonan syndrome. | 1543375 | 1992 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome: the changing phenotype. | 4025385 | 1985 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome: the changing phenotype. | 4025385 | 1985 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. | 8530013 | 1995 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. | 8530013 | 1995 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). | 9222968 | 1997 |