NRAS, NRAS proto-oncogene, GTPase, 4893

N. diseases: 611; N. variants: 17
Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 24006476 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease BEFREE While the underlying pathophysiologic mechanism of PIG is unclear, we suggest that the mitogen-activated protein kinase signal transduction pathway members (PTPN11, KRAS, SOS1, RAF1, SHOC2, NRAS) involved in cellular growth factor signaling, which are affected in NS, can provide clues. 24039098 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease BEFREE This demonstrates a predisposition to hyperpigmented lesions in NRAS-positive NS individuals. 26467218 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 GeneticVariation disease BEFREE Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%). 31219622 2019