MFAP4, microfibril associated protein 4, 4239

N. diseases: 31; N. variants: 1
Disease: Familial benign pemphigus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085106
Disease: Familial benign pemphigus
Familial benign pemphigus 		0.010 Biomarker disease BEFREE Most of the altered proteins in skin lesions of HHD patients were enriched in pathways involved in the PI3K-Akt signaling, focal adhesion, extracellular matrix (ECM)-receptor interaction, and protein digestion and absorption, such as collagen family members, microfibril-associated glycoprotein 4 and plakophilin. 30506709 2019