Discovery of novel biomarkers and phenotypes by semantic technologies

BMC Bioinformatics

Table 2 UMLS benchmark sources, numbers, and examples

*Source*	*#rels*	*CUI-1*	*concept1*	*rel*	*relationship*	*CUI-2*	*concept2*
NCI	58	C0007595	FABP4 gene	RO	gene_plays_ role_in_process	C1333527	Cell Growth
MSH	45	C0022621	FTO protein, mouse	RN	mapped_to	C2002654	Oxo-Acid-Lyases
OMIM	44	C0064317	KHK gene	RO	related_to	C1416630	Ketohexo-kinase
MTH	38	C0061352	GCGR gene	RO		C1415011	Glucagon Receptor
LNC	20	C0005767	MC4R gene mutation analysis:…	RO	has_system	C1715956	Blood

Sources, numbers, and examples (concept1) of benchmark D&O biomarkers/phenotypes extracted from UMLS (CUI: Concept Unique Identifier, RO: Related Other, RN: Related Narrow).

ISSN: 1471-2105