RAP1A, RAP1A, member of RAS oncogene family, 5906

N. diseases: 215; N. variants: 7
Disease: Kabuki make-up syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.310 GeneticVariation disease BEFREE Using whole-exome sequencing, we identified a mutation in RAP1A that was converted to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, dominant mutation in RAP1B in a second individual with a KS-like phenotype. 26280580 2015
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.310 GermlineCausalMutation disease ORPHANET Using whole-exome sequencing, we identified a mutation in RAP1A that was converted to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, dominant mutation in RAP1B in a second individual with a KS-like phenotype. 26280580 2015