Disease: Shwachman syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.010 Biomarker disease BEFREE Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. 29476317 2018