Disease: Jacobsen Distal 11q Deletion Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		0.020 Biomarker disease BEFREE JBS was suspected by clinical presentation and confirmed by UBR1 molecular testing (46,XX). 30097546 2018
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		0.020 GeneticVariation disease BEFREE JBS maps to chromosome 15q15-q21.1 and is associated with mutations in the UBR1 gene. 21711208 2012