RMDN2, regulator of microtubule dynamics 2, 151393

N. diseases: 132; N. variants: 4
Disease: Opitz-G syndrome, type 2 ×
Source: BEFREE ×
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 		0.030 Biomarker disease BEFREE We have shown previously that the ubiquitin ligase MID1, mutations of which cause the midline malformation Opitz BBB/G syndrome (OS), serves as scaffold for a microtubule-associated protein complex that regulates protein phosphatase 2A (PP2A) activity in a ubiquitin-dependent manner. 21930711 2011
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.030 Biomarker disease BEFREE The dysfunction of this mechanism would lead to malfunction of microtubule-associated protein translation and to the development of OS. 18172692 2008
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.030 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