Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
0.400 Biomarker group GENOMICS_ENGLAND Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 21686963 2009
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
0.400 Biomarker group HPO