Disease: Metachondromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918454
rs121918454
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918455
rs121918455
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918459
rs121918459
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918460
rs121918460
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918462
rs121918462
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918466
rs121918466
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs267606989
rs267606989
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606990
rs267606990
Entrez Id: 5781;6128
Gene Symbol: PTPN11;RPL6
PTPN11;RPL6
CUI: C0410530
Disease:
Metachondromatosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241 2017
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418 2009
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739 2018
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368 2013
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		G 0.700 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011