rs121913254, NRAS

N. diseases: 31
Disease: Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
CUI: C1849069
Disease: Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
0.010 GeneticVariation BEFREE A murine model harboring activated NRAS(Q61K) and Wnt signaling in melanocytes exhibited striking features of CMN syndrome, in particular neurological involvement. 25815427 2015