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 | "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." | 16733669 | 2006 | |||||
LEOPARD Syndrome
|
0.780 | GeneticVariation | BEFREE | LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. | 21365175 | 2011 | |||||
LEOPARD Syndrome
|
0.780 | CausalMutation | CLINVAR | A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. | 24767283 | 2014 | |||||
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 | A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. | 24891296 | 2014 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. | 22585553 | 2012 | |||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). | 16679933 | 2006 | |||||
LEOPARD Syndrome
|
0.780 | CausalMutation | CLINVAR | ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | 29493581 | 2018 | |||||
Leopard Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. | 15121796 | 2004 |