rs672601335, RIT1

N. diseases: 3
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
0.800 CausalMutation CLINVAR Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. 27109146 2016
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134 2016
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 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
0.800 GeneticVariation UNIPROT Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749 2016
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980 2016
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497 2016
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390 2014
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994 2014
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108 2013
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 GeneticVariation UNIPROT Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108 2013
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
0.800 CausalMutation CLINVAR Lichenoid tissue reaction (LTR) induced by local transfer of Ia-reactive T-cell clones. II. LTR by epidermal invasion of cytotoxic lymphokine-producing autoreactive T cells. 2439608 1987