rs121434595, NRAS

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Trichoepithelioma
CUI: C0349658
Disease: Trichoepithelioma
0.010 GeneticVariation BEFREE A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found. 28554764 2017
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Nevus
CUI: C0027960
Disease: Nevus
0.020 GeneticVariation BEFREE Focused amplicon deep sequencing on DNA extracted from the brain tumor and a cutaneous nevus revealed a heterozygous (c.37G>C; p.G13R) substitution in the NRAS gene. 25330907 2014
Nevus
CUI: C0027960
Disease: Nevus
0.020 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410 1994
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587 2013
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Intratumoral molecular heterogeneity in a BRAF-mutant, BRAF inhibitor-resistant melanoma: a case illustrating the challenges for personalized medicine. 22962325 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587 2013
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410 1994
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.020 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017