C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
Disease: Muscular Dystrophy, Facioscapulohumeral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 AlteredExpression disease BEFREE Critically, 4-methylumbelliferone does not disrupt DUX4-C1QBP binding and has only a limited effect on DUX4 transcriptional activity, establishing that HA signaling has a central function in pathology and is a target for FSHD therapeutics. 31844661 2019