PAX7, paired box 7, 5081

N. diseases: 78; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
0.010 GeneticVariation disease BEFREE PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay. 28779497 2017