RAB23, RAB23, member RAS oncogene family, 51715

N. diseases: 144; N. variants: 5
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder Carpenter's syndrome (CS), which is characterized by craniofacial malformations, polysyndactyly, obesity and intellectual disability. 29727300 2018