Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Leopard Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the sternum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Metachondromatosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cardiovascular Abnormalities
|
0.700 | CausalMutation | CLINVAR | ||||||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Multiple lentigines
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital pectus excavatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cafe-au-Lait Spots
|
0.700 | CausalMutation | CLINVAR | ||||||||
Broad neck
|
0.700 | CausalMutation | CLINVAR | ||||||||
Nevus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neck webbing
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital pectus carinatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | 12058348 | 2002 | |||||
LEOPARD Syndrome
|
0.780 | CausalMutation | CLINVAR | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | 12058348 | 2002 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | 12058348 | 2002 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | 12058348 | 2002 | |||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | A novel PTPN11 mutation in LEOPARD syndrome. | 14961557 | 2003 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | A novel PTPN11 mutation in LEOPARD syndrome. | 14961557 | 2003 | |||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. | 15389709 | 2004 | |||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. | 15520399 | 2004 | |||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. | 15121796 | 2004 | |||||
LEOPARD Syndrome
|
0.780 | CausalMutation | CLINVAR | PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. | 15520399 | 2004 |