Gene2Function

Disease Annotation

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Disease_Term	Source	Rank	Other Values
Sitosterolemia, 210250 (3)	OMIM	high	Genome region : 2p21 OMIM_ID : 210250 OMIM phenotype ID OMIM_ID : 605459 OMIM gene ID OMIM_ID : 605460 OMIM gene ID
LDL cholesterol	GWAS	high	Pubmed_ID : 18179892 Pubmed_ID : 18193043 Pubmed_ID : 18193044 Pubmed_ID : 18262040 Pubmed_ID : 18802019 Pubmed_ID : 19060906 Pubmed_ID : 19060910 Pubmed_ID : 19060911 Pubmed_ID : 20686565 Pubmed_ID : 20864672 Pubmed_ID : 21059979 Pubmed_ID : 21347282 Pubmed_ID : 23067351 Pubmed_ID : 23726366 Pubmed_ID : 24097068 Pubmed_ID : 25961943 Pubmed_ID : 26582766 Pubmed_ID : 26780889 Pubmed_ID : 27036123
Lipid metabolism phenotypes	GWAS	high	Pubmed_ID : 19936222 Pubmed_ID : 22286219
Cholesterol, total	GWAS	high	Pubmed_ID : 19060911 Pubmed_ID : 20686565 Pubmed_ID : 24097068 Pubmed_ID : 24886709 Pubmed_ID : 25961943 Pubmed_ID : 26582766 Pubmed_ID : 26780889 Pubmed_ID : 27036123
Metabolite levels (lipoprotein measures)	GWAS	high	Pubmed_ID : 27005778
C-reactive protein levels or total cholesterol levels (pleiotropy)	GWAS	high	Pubmed_ID : 27286809