RRAS, RAS related, 6237

N. diseases: 149; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.510 GeneticVariation disease BEFREE We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy. 24705357 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.510 Biomarker disease CLINGEN We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy. 24705357 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.510 GeneticVariation disease ORPHANET We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy. 24705357 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.510 Biomarker disease CLINGEN The RASopathies. 23875798 2013