rs869025197, RIT1

N. diseases: 2
Disease: NOONAN SYNDROME 8 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.700 CausalMutation CLINVAR Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 27226556 2016
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497 2016