KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.430 GeneticVariation disease BEFREE We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. 28523882 2017
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.430 GeneticVariation disease BEFREE Our findings define a distinct clinical and molecular subgroup of SN, beside HRAS or KRAS-related SN, and expand the spectrum of mosaic skin conditions associated with receptor tyrosine kinase mutations. 27095246 2017
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.430 CausalMutation disease CLINVAR Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. 23096712 2013
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.430 SomaticCausalMutation disease ORPHANET Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711 2012
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.430 GeneticVariation disease BEFREE Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711 2012
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.430 Biomarker disease HPO