rs121918457, PTPN11

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuropathy
CUI: C0442874
Disease: 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
CUI: C0027796
Disease: 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
CUI: C0025149
Disease: 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
CUI: C0278876
Disease: 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
CUI: C0278510
Disease: 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
CUI: C0027831
Disease: Neurofibromatosis 1
0.010 GeneticVariation BEFREE LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175 2011
Noonan Syndrome 1
CUI: C4551602
Disease: 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
CUI: C4551602
Disease: 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
CUI: C4551602
Disease: 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
CUI: C4551602
Disease: Noonan Syndrome 1
0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.700 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
0.700 CausalMutation CLINVAR
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
0.700 CausalMutation CLINVAR
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
0.700 CausalMutation CLINVAR
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
0.700 CausalMutation CLINVAR
Broad neck
CUI: C1853638
Disease: Broad neck
0.700 CausalMutation CLINVAR
Nevus
CUI: C0027960
Disease: Nevus
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
0.700 CausalMutation CLINVAR