| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | SomaticCausalMutation | disease | ORPHANET | NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi. | 24129063 | 2014 | ||||
|
0.700 | SomaticCausalMutation | disease | ORPHANET | Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. | 23392294 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. | 23392294 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. | 18633438 | 2009 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | Biomarker | disease | HPO | |||||||
|
0.400 | GermlineModifyingMutation | disease | ORPHANET | Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. | 22572819 | 2012 | ||||
|
0.400 | Biomarker | disease | CTD_human | |||||||
|
0.400 | Biomarker | disease | HPO | |||||||
|
0.400 | Biomarker | disease | HPO | |||||||
|
0.400 | CausalMutation | disease | CLINVAR | |||||||
|
0.020 | Biomarker | disease | BEFREE | Can Combination MEK and Akt Inhibition Slay the Giant Congenital Nevus? | 31445573 | 2019 | ||||
|
0.020 | Biomarker | disease | BEFREE | Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling. | 25815427 | 2015 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion. | 30945443 | 2019 |