UBE2V1, ubiquitin conjugating enzyme E2 V1, 7335

N. diseases: 46; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.010 GeneticVariation disease BEFREE Methyl-CpG-binding protein 2 (MeCP2) is a multifunctional methylated DNA binding protein; mutation of which causes Rett syndrome, a severe neurodevelopmental disorder. 28616777 2017