SGSM3, small G protein signaling modulator 3, 27352

N. diseases: 259; N. variants: 17
Disease: Opitz-G syndrome, type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.010 GeneticVariation disease BEFREE The gene MID1, the mutation of which causes X-linked Opitz G/BBB syndrome (OS, MIM 300000), encodes a microtubule-associated protein (MAP). 11685209 2001