TRIM17, tripartite motif containing 17, 51127

N. diseases: 6; N. variants: 0
Disease: Opitz GBBB Syndrome, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.010 GeneticVariation disease BEFREE Mutations in the C-terminal half of MID1, an RBCC (RING, B-box and coiled-coil) protein, have recently been shown to underlie the X-linked form of OS. 11030761 2000