×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
15389709
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
CausalMutation
disease
CLINVAR
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
14974085
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
15520399
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
Biomarker
disease
GENOMICS_ENGLAND
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
15121796
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
Biomarker
disease
GENOMICS_ENGLAND
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
15389709
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
A novel PTPN11 mutation in LEOPARD syndrome.
14961557
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
Biomarker
disease
GENOMICS_ENGLAND
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
Biomarker
disease
GENOMICS_ENGLAND
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
CausalMutation
disease
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
Biomarker
disease
GENOMICS_ENGLAND
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.500
Biomarker
disease
GENOMICS_ENGLAND
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
17603483
2007
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.500
Biomarker
disease
CTD_human
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
17603483
2007
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
0.300
Biomarker
disease
GENOMICS_ENGLAND
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
25423878
2015
×
Entrez Id:
1969
Gene Symbol:
EPHA2
EPHA2
0.300
Biomarker
disease
CTD_human
Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid.
22845314
2012
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.300
Biomarker
disease
GENOMICS_ENGLAND
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
19416762
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease.
11685670
2001