rs121918457, PTPN11

N. diseases: 24
Disease: Noonan Syndrome 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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