Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5238
Gene Symbol: PGM3
PGM3
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.300 Biomarker GENOMICS_ENGLAND PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 24931394

2014