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: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		0.710 GeneticVariation BEFREE The A57G mutation in Rit1 causes cardiac hypertrophy, fibrosis and other NS-associated features. 30898653 2019
dbSNP: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749 2016
dbSNP: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390 2014
dbSNP: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346 2014
dbSNP: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
dbSNP: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994 2014
dbSNP: rs672601334
rs672601334
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108 2013