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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.300 Biomarker disease GENOMICS_ENGLAND Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. 31092906 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.300 Biomarker disease GENOMICS_ENGLAND Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. 31092906 2019