C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.010 GeneticVariation group BEFREE Neural-specific deletion of mitochondrial p32/C1qbp leads to leukoencephalopathy due to undifferentiated oligodendrocyte and axon degeneration. 29123152 2017