×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Noonan Syndrome 1
0.400
GeneticVariation
CLINVAR
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Noonan Syndrome 1
0.400
GeneticVariation
CLINVAR
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Noonan Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Noonan Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
Noonan Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Noonan Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
Noonan Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
6654
Gene Symbol:
SOS1
SOS1
Noonan Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
6016
Gene Symbol:
RIT1
RIT1
Noonan Syndrome 1
0.100
CausalMutation
CLINVAR
×
Entrez Id:
867
Gene Symbol:
CBL
CBL
Noonan Syndrome 1
0.100
CausalMutation
CLINVAR
×
Entrez Id:
22800
Gene Symbol:
RRAS2
RRAS2
Noonan Syndrome 1
0.100
CausalMutation
CLINVAR
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
Biomarker
GENOMICS_ENGLAND
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
Biomarker
GENOMICS_ENGLAND
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
BEFREE
We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1 ) from 12 families and their relevant family members for mutations in PTPN11 /SHP2 using direct DNA sequencing.
12325025
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1 ) from 12 families and their relevant family members for mutations in PTPN11 /SHP2 using direct DNA sequencing.
12325025
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
12529711
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
12634870
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
12717436
2003