Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Using original nevus explant and xenograft preclinical models, we demonstrated that intradermal MEK/Akt inhibition might serve as neoadjuvant therapy for the treatment of NRAS-mutated congenital melanocytic nevi to avoid iterative surgeries. 31059696 2019
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Large and giant congenital melanocytic nevi (CMN) are rare melanocytic lesions mostly caused by postzygotic NRAS alteration. 30359577 2019
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE We report the case of a newborn boy with multinodular NRAS and BRAF mutation-negative congenital melanocytic nevi and cerebral lesions compatible with congenital intraparenchymal melanosis. 29999207 2018
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. 27900779 2017
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Varying proliferative and clonogenic potential in NRAS-mutated congenital melanocytic nevi according to size. 27193390 2016
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Genetic analysis revealed an activating NRAS Q61R mutation within the melanoma, which is more commonly associated with large or giant congenital melanocytic nevi. 27573553 2016
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. 25490715 2015
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Congenital melanocytic nevus (CMN) syndrome is the association of pigmented melanocytic nevi with extra-cutaneous features, classically melanotic cells within the central nervous system, most frequently caused by a mutation of NRAS codon 61. 25815427 2015
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system development, and melanomagenesis.In this issue, Charbel et al. demonstrate the use of highly sensitive detection techniques for recurrent but difficult-to-detect mutations in NRAS and BRAF. 24646799 2014
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 GeneticVariation disease BEFREE NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi. 24129063 2014
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 SomaticCausalMutation disease ORPHANET NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi. 24129063 2014
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
0.400 SomaticCausalMutation disease ORPHANET Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 23392294 2013