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: rs672601335
rs672601335
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: rs672601335
rs672601335
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 24939608 2014
dbSNP: rs672601335
rs672601335
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: rs672601335
rs672601335
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