Table 6.

Knowledge graph statistics, including 6 node types and 7 relationship types

Type	Label	Count	Description
Node	Article	509	Publication node
	Disease	225	Disease node
	Genotype	397	Genotype node
	Variation	1242	Gene Variation node
	FacePhenotype	2623	Facial Phenotype node
	Sample	1147	Patient node
Relation	Affect	4296	Relationship between genotype and facial phenotype
	Cause	748	Relationship between gene variation and disease
	Exist	1147	Relationship between sample and article
	Has_Phenotype	2598	Relationship between disease and facial phenotype
	Have	1242	Relationship between genetic variation and genotype
	Mention_FP	8012	Relationship between sample and facial phenotype
	Mention_Var	1239	Relationship between genetic variation and disease