P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Disease: Hypophosphatasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		0.300 Biomarker disease CTD_human Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. 27466191 2016