rs121913529, KRAS

N. diseases: 144
Disease: Organoid Nevus Phakomatosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.730 GeneticVariation BEFREE We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. 30443000 2019
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.730 GeneticVariation BEFREE KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant. 26521233 2015
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.730 GeneticVariation BEFREE Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. 22683711 2012
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.730 CausalMutation CLINVAR