rs397507531, PTPN11

N. diseases: 18
Disease: NOONAN SYNDROME 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163 2007
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799 2006
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. 15689434 2005
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. 15996221 2005
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003