PXN, paxillin, 5829

N. diseases: 116; N. variants: 5
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.010 Biomarker disease BEFREE Interestingly, paxillin hyperphosphorylation by SADDAN-FGFR3 caused paxillin mislocalization and partial co-localization with the mutant receptor. 29242050 2018