Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Neuropathy
|
0.010 | GeneticVariation | BEFREE | We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. | 26952712 | 2016 | |||||
Neuralgia
|
0.010 | GeneticVariation | BEFREE | We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. | 26952712 | 2016 | |||||
Medulloblastoma
|
0.010 | GeneticVariation | BEFREE | We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. | 23813970 | 2013 | |||||
Adult Medulloblastoma
|
0.010 | GeneticVariation | BEFREE | We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. | 23813970 | 2013 | |||||
Childhood Medulloblastoma
|
0.010 | GeneticVariation | BEFREE | We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. | 23813970 | 2013 | |||||
Neurofibromatosis 1
|
0.010 | GeneticVariation | BEFREE | LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. | 21365175 | 2011 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. | 28681392 | 2017 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. | 27659786 | 2016 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. | 27238887 | 2016 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. | 24767283 | 2014 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | 12058348 | 2002 | |||||
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 |