RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025189
rs869025189
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980 2016
dbSNP: rs869025189
rs869025189
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497 2016
dbSNP: rs869025189
rs869025189
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994 2014
dbSNP: rs869025189
rs869025189
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390 2014
dbSNP: rs869025189
rs869025189
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108 2013