RAI1, retinoic acid induced 1, 10743

N. diseases: 205; N. variants: 22
Disease: YUAN-HAREL-LUPSKI SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225255
Disease: YUAN-HAREL-LUPSKI SYNDROME
YUAN-HAREL-LUPSKI SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. 26544804 2015