Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1
0.300 Biomarker disease CTD_human Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report. 30200136 2018