Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker CLINGEN Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. 28594414

2017

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker CLINGEN The RASopathies. 23875798

2013

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker CLINGEN Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations. 22855653

2012

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker CLINGEN In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome. 21263000

2011

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker CLINGEN A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803

2010