KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Phacomatosis pigmentokeratotica ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.010 GeneticVariation disease BEFREE This case expands our knowledge of the genetic basis for phacomatosis, in which mutations in HRAS have been previously described, although this report provides evidence that activating mutations in KRAS or HRAS may cause PPK. 28523882 2017