Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. | 18470943 | 2008 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia. | 16115145 | 2005 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia. | 16115145 | 2005 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | 15928039 | 2005 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Somatic PTPN11 mutations in childhood acute myeloid leukaemia. | 15842656 | 2005 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. | 17910045 | 2008 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | 15928039 | 2005 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. | 23832011 | 2013 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. | 17910045 | 2008 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | 19020799 | 2008 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | 19020799 | 2008 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. | 18470943 | 2008 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. | 23832011 | 2013 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Somatic PTPN11 mutations in childhood acute myeloid leukaemia. | 15842656 | 2005 | |||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. | 12739139 | 2003 | |||||
Cryptorchidism
|
0.700 | CausalMutation | CLINVAR | ||||||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. | 12739139 | 2003 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | 12325025 | 2002 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. | 15240615 | 2004 | |||||
Abnormality of the face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | CausalMutation | CLINVAR |