Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 31256876 2019