APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Acanthocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		0.020 GeneticVariation disease BEFREE Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. 11940084 2002
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		0.020 Biomarker disease BEFREE Apolipoprotein B was absent in all patients, and each had more than 50% of acanthocytes present on peripheral smear. 9600371 1998