PCSK9 (proprotein convertase subtilisin/kexin type 9)

Gene

• Entrez ID: 255738
• Gene name: Proprotein convertase subtilisin/kexin type 9
• Gene symbol: PCSK9
• Synonyms (NCBI Gene): FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9
• Chromosome: 1
• Chromosome location: 1p32.3
• Summary: This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs509504	A>C,G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs7552471	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs11583680	C>G,T	Pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs11800243	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs28362201	G>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs28362261	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs28362286	C>A,T	Pathogenic, association, benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs28362287	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, non coding transcript variant
rs28385701	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, upstream transcript variant
rs28385710	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs28942111	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs28942112	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs35574083	GCTGCTGCT>-,GCT,GCTGCT,GCTGCTGCTGCT,GCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCT	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, inframe deletion, inframe insertion, upstream transcript variant
rs41297883	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs67608943	C>G,T	Conflicting-interpretations-of-pathogenicity, association	Stop gained, synonymous variant, coding sequence variant, intron variant
rs137852912	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs146471967	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs185392267	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs374603772	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs569379713	C>T	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs745633457	G>A,T	Pathogenic	Intron variant
rs753857795	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs761767572	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs764603059	G>T	Pathogenic, uncertain-significance	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs768795323	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs772677312	C>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs778849441	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs793888521	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728683	G>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886039839	C>A	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs886046435	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs986151799	G>A	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1057519691	T>C,G	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs1254346075	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1272703401	G>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant
rs1278890129	G>A	Pathogenic, uncertain-significance	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1372204035	C>G	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1553135400	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1553135406	C>-	Likely-pathogenic, pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553135930	A>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1553135971	A>G	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs1553137543	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553137693	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553137699	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018980	hsa-miR-335-5p	Microarray	18185580
MIRT023073	hsa-miR-124-3p	Microarray	18668037
MIRT024487	hsa-miR-215-5p	Microarray	19074876
MIRT026924	hsa-miR-192-5p	Microarray	19074876
MIRT499838	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT499835	hsa-miR-3976	PAR-CLIP	20371350
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT499834	hsa-miR-1208	PAR-CLIP	20371350
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT499830	hsa-miR-367-5p	PAR-CLIP	20371350
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	20371350
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	20371350
MIRT499826	hsa-miR-744-3p	PAR-CLIP	20371350
MIRT499825	hsa-miR-1303	PAR-CLIP	20371350
MIRT499838	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT499835	hsa-miR-3976	PAR-CLIP	20371350
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT499834	hsa-miR-1208	PAR-CLIP	20371350
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT499830	hsa-miR-367-5p	PAR-CLIP	20371350
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	20371350
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	20371350
MIRT499826	hsa-miR-744-3p	PAR-CLIP	20371350
MIRT499825	hsa-miR-1303	PAR-CLIP	20371350
MIRT569930	hsa-miR-1295b-5p	PAR-CLIP	20371350
MIRT569929	hsa-miR-1912	PAR-CLIP	20371350
MIRT569928	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT569927	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT569926	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT569925	hsa-miR-3174	PAR-CLIP	20371350
MIRT569924	hsa-miR-500b-3p	PAR-CLIP	20371350
MIRT569923	hsa-miR-759	PAR-CLIP	20371350
MIRT569922	hsa-miR-6852-5p	PAR-CLIP	20371350
MIRT569921	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT569919	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT569920	hsa-miR-8089	PAR-CLIP	20371350
MIRT569918	hsa-miR-765	PAR-CLIP	20371350
MIRT569917	hsa-miR-3612	PAR-CLIP	20371350
MIRT569916	hsa-miR-650	PAR-CLIP	20371350
MIRT569915	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT569914	hsa-miR-3175	PAR-CLIP	20371350
MIRT569913	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT569912	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT569911	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT569910	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT569909	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT569908	hsa-miR-7107-5p	PAR-CLIP	20371350
MIRT499838	hsa-miR-483-5p	PAR-CLIP	21572407
MIRT499837	hsa-miR-1182	PAR-CLIP	21572407
MIRT499835	hsa-miR-3976	PAR-CLIP	21572407
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	21572407
MIRT499834	hsa-miR-1208	PAR-CLIP	21572407
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	21572407
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	21572407
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT499830	hsa-miR-367-5p	PAR-CLIP	21572407
MIRT499829	hsa-miR-193a-5p	PAR-CLIP	21572407
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT499826	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT499825	hsa-miR-1303	PAR-CLIP	21572407
MIRT499838	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT499837	hsa-miR-1182	PAR-CLIP	23446348
MIRT499835	hsa-miR-3976	PAR-CLIP	23446348
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	23446348
MIRT499834	hsa-miR-1208	PAR-CLIP	23446348
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	23446348
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	23446348
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	23446348
MIRT499830	hsa-miR-367-5p	PAR-CLIP	23446348
MIRT499829	hsa-miR-193a-5p	PAR-CLIP	23446348
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT499826	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT499825	hsa-miR-1303	PAR-CLIP	23446348
MIRT499838	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT499835	hsa-miR-3976	PAR-CLIP	23446348
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	23446348
MIRT499834	hsa-miR-1208	PAR-CLIP	23446348
MIRT499830	hsa-miR-367-5p	PAR-CLIP	23446348
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT499826	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT499825	hsa-miR-1303	PAR-CLIP	23446348
MIRT499838	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT499835	hsa-miR-3976	PAR-CLIP	23446348
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	23446348
MIRT499834	hsa-miR-1208	PAR-CLIP	23446348
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	23446348
MIRT499830	hsa-miR-367-5p	PAR-CLIP	23446348
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT499826	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT499825	hsa-miR-1303	PAR-CLIP	23446348
MIRT499838	hsa-miR-483-5p	PAR-CLIP	24398324
MIRT499837	hsa-miR-1182	PAR-CLIP	24398324
MIRT499835	hsa-miR-3976	PAR-CLIP	24398324
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	24398324
MIRT499834	hsa-miR-1208	PAR-CLIP	24398324
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	24398324
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	24398324
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	24398324
MIRT499830	hsa-miR-367-5p	PAR-CLIP	24398324
MIRT499829	hsa-miR-193a-5p	PAR-CLIP	24398324
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	24398324
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	24398324
MIRT499826	hsa-miR-744-3p	PAR-CLIP	24398324
MIRT499825	hsa-miR-1303	PAR-CLIP	24398324
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	23592263
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	23592263
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	23592263
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT459651	hsa-miR-4721	PAR-CLIP	23592263
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT459647	hsa-miR-4656	PAR-CLIP	23592263
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459647	hsa-miR-4656	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459651	hsa-miR-4721	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	27292025
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	27292025
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	27292025
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	27292025
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	27292025
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	27292025
MIRT459647	hsa-miR-4656	PAR-CLIP	27292025
MIRT459647	hsa-miR-4656	PAR-CLIP	27292025
MIRT459651	hsa-miR-4721	PAR-CLIP	27292025
MIRT459651	hsa-miR-4721	PAR-CLIP	27292025
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	27292025
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	27292025
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	27292025
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	27292025
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	27292025
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	27292025
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	27292025
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	27292025
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	27292025
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	27292025
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	27292025
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	27292025
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	27292025
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	27292025
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	27292025
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	27292025
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	27292025
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	27292025
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	27292025
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT735187	hsa-miR-564	Western blotting, qRT-PCR	33899508
MIRT459651	hsa-miR-4721	Luciferase reporter assay, Western blotting, qRT-PCR	33899508
MIRT459650	hsa-miR-6875-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33899508
MIRT499838	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT499835	hsa-miR-3976	PAR-CLIP	20371350
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT499834	hsa-miR-1208	PAR-CLIP	20371350
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT499830	hsa-miR-367-5p	PAR-CLIP	20371350
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	20371350
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	20371350
MIRT499826	hsa-miR-744-3p	PAR-CLIP	20371350
MIRT499825	hsa-miR-1303	PAR-CLIP	20371350
MIRT499838	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT499835	hsa-miR-3976	PAR-CLIP	20371350
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT499834	hsa-miR-1208	PAR-CLIP	20371350
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT499830	hsa-miR-367-5p	PAR-CLIP	20371350
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	20371350
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	20371350
MIRT499826	hsa-miR-744-3p	PAR-CLIP	20371350
MIRT499825	hsa-miR-1303	PAR-CLIP	20371350
MIRT569930	hsa-miR-1295b-5p	PAR-CLIP	20371350
MIRT569929	hsa-miR-1912	PAR-CLIP	20371350
MIRT569928	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT569927	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT569926	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT569925	hsa-miR-3174	PAR-CLIP	20371350
MIRT569924	hsa-miR-500b-3p	PAR-CLIP	20371350
MIRT569923	hsa-miR-759	PAR-CLIP	20371350
MIRT569922	hsa-miR-6852-5p	PAR-CLIP	20371350
MIRT569921	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT569919	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT569920	hsa-miR-8089	PAR-CLIP	20371350
MIRT569918	hsa-miR-765	PAR-CLIP	20371350
MIRT569917	hsa-miR-3612	PAR-CLIP	20371350
MIRT569916	hsa-miR-650	PAR-CLIP	20371350
MIRT569915	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT569914	hsa-miR-3175	PAR-CLIP	20371350
MIRT569913	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT569912	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT569911	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT569910	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT569909	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT569908	hsa-miR-7107-5p	PAR-CLIP	20371350
MIRT499838	hsa-miR-483-5p	PAR-CLIP	21572407
MIRT499837	hsa-miR-1182	PAR-CLIP	21572407
MIRT499835	hsa-miR-3976	PAR-CLIP	21572407
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	21572407
MIRT499834	hsa-miR-1208	PAR-CLIP	21572407
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	21572407
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	21572407
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT499830	hsa-miR-367-5p	PAR-CLIP	21572407
MIRT499829	hsa-miR-193a-5p	PAR-CLIP	21572407
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT499826	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT499825	hsa-miR-1303	PAR-CLIP	21572407
MIRT499838	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT499837	hsa-miR-1182	PAR-CLIP	23446348
MIRT499835	hsa-miR-3976	PAR-CLIP	23446348
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	23446348
MIRT499834	hsa-miR-1208	PAR-CLIP	23446348
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	23446348
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	23446348
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	23446348
MIRT499830	hsa-miR-367-5p	PAR-CLIP	23446348
MIRT499829	hsa-miR-193a-5p	PAR-CLIP	23446348
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT499826	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT499825	hsa-miR-1303	PAR-CLIP	23446348
MIRT499838	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT499835	hsa-miR-3976	PAR-CLIP	23446348
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	23446348
MIRT499834	hsa-miR-1208	PAR-CLIP	23446348
MIRT499830	hsa-miR-367-5p	PAR-CLIP	23446348
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT499826	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT499825	hsa-miR-1303	PAR-CLIP	23446348
MIRT499838	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT499835	hsa-miR-3976	PAR-CLIP	23446348
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	23446348
MIRT499834	hsa-miR-1208	PAR-CLIP	23446348
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	23446348
MIRT499830	hsa-miR-367-5p	PAR-CLIP	23446348
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT499826	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT499825	hsa-miR-1303	PAR-CLIP	23446348
MIRT499838	hsa-miR-483-5p	PAR-CLIP	24398324
MIRT499837	hsa-miR-1182	PAR-CLIP	24398324
MIRT499835	hsa-miR-3976	PAR-CLIP	24398324
MIRT499836	hsa-miR-6760-3p	PAR-CLIP	24398324
MIRT499834	hsa-miR-1208	PAR-CLIP	24398324
MIRT499833	hsa-miR-1915-3p	PAR-CLIP	24398324
MIRT499831	hsa-miR-6764-5p	PAR-CLIP	24398324
MIRT499832	hsa-miR-1304-3p	PAR-CLIP	24398324
MIRT499830	hsa-miR-367-5p	PAR-CLIP	24398324
MIRT499829	hsa-miR-193a-5p	PAR-CLIP	24398324
MIRT499827	hsa-miR-6501-5p	PAR-CLIP	24398324
MIRT499828	hsa-miR-4423-5p	PAR-CLIP	24398324
MIRT499826	hsa-miR-744-3p	PAR-CLIP	24398324
MIRT499825	hsa-miR-1303	PAR-CLIP	24398324
MIRT459660	hsa-miR-6882-5p	PAR-CLIP	23592263
MIRT459659	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT459658	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT459656	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT459657	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT459655	hsa-miR-4446-3p	PAR-CLIP	23592263
MIRT459654	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT459652	hsa-miR-6761-5p	PAR-CLIP	23592263
MIRT459653	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT459650	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT459651	hsa-miR-4721	PAR-CLIP	23592263
MIRT459649	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT459648	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT459647	hsa-miR-4656	PAR-CLIP	23592263
MIRT459646	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT459645	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT1218578	hsa-miR-148a	CLIP-seq
MIRT1218579	hsa-miR-148b	CLIP-seq
MIRT1218580	hsa-miR-152	CLIP-seq
MIRT1218581	hsa-miR-1972	CLIP-seq
MIRT1218582	hsa-miR-3165	CLIP-seq
MIRT1218583	hsa-miR-3189-3p	CLIP-seq
MIRT1218584	hsa-miR-4329	CLIP-seq
MIRT1218585	hsa-miR-4722-3p	CLIP-seq
MIRT1218586	hsa-miR-4755-3p	CLIP-seq
MIRT1218587	hsa-miR-501-3p	CLIP-seq
MIRT1218588	hsa-miR-502-3p	CLIP-seq
MIRT1218589	hsa-miR-767-5p	CLIP-seq
MIRT1218581	hsa-miR-1972	CLIP-seq
MIRT2291632	hsa-miR-1184	CLIP-seq
MIRT2291633	hsa-miR-2355-3p	CLIP-seq
MIRT2291634	hsa-miR-3065-3p	CLIP-seq
MIRT2291635	hsa-miR-3162-3p	CLIP-seq
MIRT2291636	hsa-miR-4646-3p	CLIP-seq
MIRT2589384	hsa-miR-124	CLIP-seq
MIRT2589385	hsa-miR-506	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Activation	21123766
SREBF1	Activation	17921436
SREBF2	Activation	17448444;17921436;21123766;22288532

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS	12552133
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	ISS	12552133
GO:0001920	Process	Negative regulation of receptor recycling	IDA	17452316, 22848640
GO:0002091	Process	Negative regulation of receptor internalization	IDA	18799458
GO:0002092	Process	Positive regulation of receptor internalization	IDA	17328821
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	12552133
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	17461796, 18250299, 18753623, 18799458, 22081141, 22493497, 22580899, 22848640, 25613181
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12552133, 16912035, 17080197
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	22580899
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	17461796, 18039658
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	17461796
GO:0005770	Component	Late endosome	IDA	17461796, 18039658
GO:0005783	Component	Endoplasmic reticulum	IDA	17461796
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	17461796
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	18799458
GO:0006508	Process	Proteolysis	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007041	Process	Lysosomal transport	IDA	17452316
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009267	Process	Cellular response to starvation	ISS	16407292
GO:0009986	Component	Cell surface	IDA	17461796
GO:0009986	Component	Cell surface	IEA
GO:0010989	Process	Negative regulation of low-density lipoprotein particle clearance	IDA	17328821, 22848640
GO:0016485	Process	Protein processing	IEA
GO:0016540	Process	Protein autoprocessing	IDA	14622975
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019871	Function	Sodium channel inhibitor activity	IDA	22493497
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS	12552133
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IEA
GO:0030169	Function	Low-density lipoprotein particle binding	IEA
GO:0030169	Function	Low-density lipoprotein particle binding	ISS
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS	12552133
GO:0030547	Function	Signaling receptor inhibitor activity	IDA	22848640
GO:0031232	Component	Extrinsic component of external side of plasma membrane	IC	17328821
GO:0032799	Process	Low-density lipoprotein receptor particle metabolic process	IEA
GO:0032802	Process	Low-density lipoprotein particle receptor catabolic process	IDA	16912035, 18197702
GO:0032803	Process	Regulation of low-density lipoprotein particle receptor catabolic process	IEA
GO:0032805	Process	Positive regulation of low-density lipoprotein particle receptor catabolic process	IDA	22081141, 22848640
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032869	Process	Cellular response to insulin stimulus	ISS	12552133
GO:0034185	Function	Apolipoprotein binding	IEA
GO:0034185	Function	Apolipoprotein binding	ISS
GO:0034189	Function	Very-low-density lipoprotein particle binding	IEA
GO:0034189	Function	Very-low-density lipoprotein particle binding	ISS
GO:0034190	Function	Apolipoprotein receptor binding	IDA	18039658
GO:0036020	Component	Endolysosome membrane	TAS
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	17170371
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0043523	Process	Regulation of neuron apoptotic process	ISS
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IMP	17051583
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18039658
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IDA	17080197
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	17452316, 22081141, 22848640
GO:0070326	Function	Very-low-density lipoprotein particle receptor binding	IDA	18039658
GO:1903783	Process	Negative regulation of sodium ion import across plasma membrane	IDA	22493497
GO:1905601	Process	Negative regulation of receptor-mediated endocytosis involved in cholesterol transport	IDA	22848640
GO:1990666	Component	PCSK9-LDLR complex	IDA	22081141, 22848640
GO:1990667	Component	PCSK9-AnxA2 complex	IDA	22848640
GO:1990667	Component	PCSK9-AnxA2 complex	IPI	24808179

Other IDs

• MIM: 607786
• HGNC: 20001
• e!Ensembl: ENSG00000169174

Protein

• UniProt ID: Q8NBP7
• Protein name: Proprotein convertase subtilisin/kexin type 9 (EC 3.4.21.-) (Neural apoptosis-regulated convertase 1) (NARC-1) (Proprotein convertase 9) (PC9) (Subtilisin/kexin-like protease PC9)
• Protein function: Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER
• PDB: 2P4E, 2PMW, 2QTW, 2W2M, 2W2N, 2W2O, 2W2P, 2W2Q, 2XTJ, 3BPS, 3GCW, 3GCX, 3H42, 3M0C, 3P5B, 3P5C, 3SQO, 4K8R, 4NE9, 4NMX, 4OV6, 5OCA, 5VL7, 5VLA, 5VLH, 5VLK, 5VLL, 5VLP, 6E4Y, 6E4Z, 6MV5, 6OLZ, 6OM0, 6OM7, 6U26, 6U2F, 6U2N, 6U2P, 6U36, 6U38, 6U3I, 6U3X, 7ANQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05922	Inhibitor_I9	77 → 152	Peptidase inhibitor I9	Domain
  PF00082	Peptidase_S8	177 → 436	Subtilase family	Domain
  PF18459	PCSK9_C1	449 → 531	Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain	Domain
  PF18464	PCSK9_C2	535 → 600	Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain	Domain
  PF18463	PCSK9_C3	602 → 682	Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.
• Sequence:

  MGTVSSRRSWWPLPLLLLLLLLLGPAGARAQEDEDGDYEELVLALRSEEDGLAEAPEHGT
  TATFHRCAKDPWRLPGTYVVVLKEETHLSQSERTARRLQAQAARRGYLTKILHVFHGLLP
  GFLVKMSGDLLELALKLPHVDYIEEDSSVFAQSIPWNLERITPPRYRADEYQPPDGGSLV
  EVYLLDTSIQSDHREIEGRVMVTDFENVPEEDGTRFHRQASKCDSHGTHLAGVVSGRDAG
  VAKGASMRSLRVLNCQGKGTVSGTLIGLEFIRKSQLVQPVGPLVVLLPLAGGYSRVLNAA
  CQRLARAGVVLVTAAGNFRDDACLYSPASAPEVITVGATNAQDQPVTLGTLGTNFGRCVD
  LFAPGEDIIGASSDCSTCFVSQSGTSQAAAHVAGIAAMMLSAEPELTLAELRQRLIHFSA
  KDVINEAWFPEDQRVLTPNLVAALPPSTHGAGWQLFCRTVWSAHSGPTRMATAVARCAPD
  EELLSCSSFSRSGKRRGERMEAQGGKLVCRAHNAFGGEGVYAIARCCLLPQANCSVHTAP
  PAEASMGTRVHCHQQGHVLTGCSSHWEVEDLGTHKPPVLRPRGQPNQCVGHREASIHASC
  CHAPGLECKVKEHGIPAPQEQVTVACEEGWTLTGCSALPGTSHVLGAYAVDNTCVVRSRD
  VSTTGSTSEGAVTAVAICCRSRHLAQASQELQ

• Sequence length: 692

Pathways

KEGG:

Cholesterol metabolism

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
VLDLR internalisation and degradation
Post-translational protein phosphorylation
LDL clearance

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs137852912, rs794728683, rs564427867	RCV004018541 RCV005384666 RCV005384688 RCV002374503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypercholesterolemia	Likely pathogenic; Pathogenic	rs28942111, rs137852912, rs794728683, rs564427867	RCV005402793 RCV005862692 RCV001526127 RCV000775016	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homozygous familial hypercholesterolemia	Likely pathogenic; Pathogenic	rs137852912, rs794728683, rs564427867	RCV004017221 RCV004017461 RCV000825628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia, autosomal dominant, 3	Likely pathogenic; Pathogenic	rs1644681544, rs2100343401, rs28942111, rs28942112, rs137852912, rs794728683, rs564427867	RCV001313945 RCV001450047 RCV000003007 RCV000003008 RCV000003009 RCV000412537 RCV002866861 RCV001859495 RCV000778097	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia, familial, 1	Likely pathogenic; Pathogenic	rs28942111, rs137852912, rs794728683, rs564427867, rs371488778, rs1553137543, rs1372204035, rs1553135930, rs1057519691, rs1553137693, rs1553137699, rs886046435	RCV000505185 RCV000505195 RCV000505198 RCV000256334 RCV000331053 RCV000497058 RCV000505257 RCV000508901 RCV000508728 RCV000508743 RCV000508921 RCV000508856 RCV000508785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PCSK9-related disorder	Likely pathogenic; Pathogenic	rs564427867	RCV004734956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypobetalipoproteinemia	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL, 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOBETALIPOPROTEINEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocholesterolemia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low density lipoprotein cholesterol level quantitative trait locus 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short fetal femur length	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	24751931		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	27179706	Associate	★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25856746, 27665855, 27810295, 28482694, 28865748, 29122809, 29754909, 29885102, 30112872, 30403574, 30605918, 30709868, 31121022, 31206403, 31272931, 31493378, 31495548, 31707788, 31741082		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31812013		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28565798		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22359160		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29650402		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	31748600		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31812013		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26061568		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28438747, 36293049	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31437157	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28430919		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	30210081	Inhibit	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	31672148	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	26820623	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	30210081	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	30275531, 33166319, 37055467, 40008516	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29148099, 29188294, 30210081, 30275531		★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	27246356		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	27152866	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	27218270		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16554528, 17940607, 18436227, 19001363, 20448210, 20623344, 21889147, 23283366, 23317404, 23973703, 25258384, 25341796, 25490141, 25881720, 26586530, 26666837, 26820623, 26980204, 27575716, 27594539, 27909053, 28081940, 28291840, 28302950, 28483459, 28504688, 28529918, 28531826, 28535426, 28637178, 28656218, 29050560, 29109005, 29122809, 29175268, 29180444, 29296222, 29343301, 29525934, 29616625, 29617044, 29727700, 29740798, 29754909, 29758414, 29773421, 29807195, 29994840, 30026278, 30115989, 30246446, 30443213, 30592271, 30603640, 30629143, 30652635, 30767742, 30796085, 31002453, 31075236, 31085239, 31133497, 31236571, 31281844, 31466620, 31493378, 31513960, 31524223, 31593224, 31604401, 31732461, 31746997, 31779098, 31805108, 31818299		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34928185	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	38198221	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16554528, 17940607, 18436227, 19001363, 20448210, 20623344, 21889147, 23283366, 23317404, 23973703, 25258384, 25341796, 25490141, 25881720, 25911073, 26586530, 26666837, 26820623, 26980204, 27246356, 27575716, 27594539, 27909053, 28081940, 28291840, 28302950, 28483459, 28504688, 28529918, 28531826, 28535426, 28596304, 28618994, 28637178, 28643240, 28656218, 28736830, 28768335, 28831261, 28832867, 28849360, 28879791, 29050560, 29084735, 29109005, 29122809, 29129821, 29175268, 29180444, 29181773, 29241886, 29296222, 29326146, 29343301, 29511875, 29516504, 29525934, 29548678, 29616625, 29617044, 29626068, 29727700, 29737015, 29740798, 29748315, 29748367, 29754909, 29758414, 29773421, 29792269, 29807195, 29994840, 30012326, 30026278, 30055750, 30115989, 30246446, 30370486, 30443213, 30448414, 30540337, 30571382, 30586750, 30592271, 30603640, 30629143, 30652635, 30668438, 30685675, 30702994, 30736965, 30745204, 30767742, 30796085, 30817043, 30877491, 31002453, 31075236, 31085239, 31133497, 31151804, 31236571, 31246589, 31250329, 31281844, 31465540, 31466620, 31493378, 31513960, 31524223, 31577611, 31593224, 31604401, 31732461, 31746997, 31779098, 31805108, 31818299		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17940607		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17940607, 25210046, 29807195, 31707849, 31802881, 31805108, 32208829, 32565719, 33166319, 33533259, 34336112, 34369165, 34884442, 34928185, 35289693, 36012389, 36982171, 38198221	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19001363, 28886926, 36722156	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25064003	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24135527, 28911508, 30605918, 31303312		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	38531334	Inhibit	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	16211558, 17964958, 18028451, 18559913, 19191301, 19319977, 20571503, 20809525, 21115573, 21382890, 22417841, 22683120, 22910581, 24267230, 26586530, 30293936		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34928185	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	32929056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30262900, 31110521		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	40239750	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26674961	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28178673, 37151886	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28565798		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32068819	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17435765, 18039658, 18262190, 21040917, 21619378, 22311433, 22519528, 22811413, 23578522, 24585268, 24625727, 25052769, 25278291, 25856746, 25989132, 26374825, 26503748, 26666837, 27856457, 27865998, 27919364, 27959767, 28059953, 28060539, 28093849, 28124099, 28157721, 28179493, 28228332, 28330911, 28436724, 28439730, 28444187, 28445176, 28450903, 28453187, 28468788, 28509674, 28555526, 28557865, 28644091, 28673045, 28816230, 28988500, 29096860, 29103916, 29169069, 29197601, 29210646, 29226174, 29230236, 29296222, 29334796, 29498010, 29519739, 29544086, 29548678, 29562810, 29593095, 29667439, 29685715, 29773421, 29779055, 29800228, 30112987, 30124449, 30137516, 30210081, 30222160, 30251625, 30261472, 30306859, 30421481, 30448414, 30524137, 30551367, 30593607, 30617148, 30645167, 30709868, 30746585, 30786741, 30842207, 30914377, 30921469, 31002456, 31002780, 31033505, 31110520, 31110521, 31111240, 31116355, 31191301, 31243736, 31260298, 31280039, 31400268, 31419281, 31437157, 31441123, 31453780, 31513960, 31593224, 31794188, 31818446, 31832834		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	17435765		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22575316, 26374825, 27856457, 27959767, 29997226, 30210081, 30779729, 31253441, 31437157, 32084179, 32846800, 33642439, 35501368, 35921096, 36012389, 36285785, 38198221, 38272483, 40362720	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28330911	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30617148	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	16183066, 27769814, 29754909		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	29754909, 30729307		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32208829	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	38198221	Inhibit	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29501393		★☆☆☆☆ Found in Text Mining only
Cerebral artery atherosclerosis	Cerebral artery atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17940607, 29997226, 31250580, 31664920, 36244797, 38198221	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	33166319	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	17940607	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17940607, 18343176, 26959706, 28073851, 28549755, 28879791, 28966647, 29146683, 29205760, 29223954, 29569492, 29622600, 30729307, 30842207, 30926528, 31191304, 31301293, 31679643		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17940607		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	26959706		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31812013		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	22922093		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28727814		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30676701, 30921469		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28084558, 28391915, 29299849, 30137516, 30550765, 31100024, 31177906, 31190079, 31196453		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28442922		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26061568		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31437157, 33166319, 36285785	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29146683	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31110520		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36003387, 36242053	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	31391289		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28674132, 28911508, 29050560, 29205760, 29589064		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	20031607, 30555118, 31672148	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15893176, 16943719, 17940607, 18672372, 18708425, 19001363, 19075777, 19191720, 19319977, 19351729, 20172854, 20699424, 20849207, 21619378, 22355267, 23054246, 23380588, 23642322, 24115837, 24599757, 24667128, 24751931, 25070550, 25239117, 25839937, 26369501, 26576960, 26934567, 27540175, 27594539, 27846466, 28025677, 28166668, 28444187, 28502498, 28674132, 28894089, 28937411, 29103916, 29259136, 29281604, 29366988, 29589064, 29622600, 29748315, 29800228, 29885102, 29974199, 30076455, 30112872, 30336824, 30420622, 30947598, 30953636, 31020929, 31206403, 31207358, 31495548, 31672148, 31679643, 31746997		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	21378990, 27135400		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	15893176, 18547436, 20031607, 20699424, 24243630, 25180781, 26036859, 26266351, 26374825, 26934567, 26946290, 27049268, 27135400, 27540175, 28167353, 30205809, 30555118, 30947598, 31480784, 31672148, 33023603, 33166319, 34075144, 34385509, 34652028, 35921096, 36244797, 37201714, 38049831, 40649979	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	16943719, 16987874, 17940607, 18672372, 18708425, 19001363, 19075777, 19191720, 19319977, 19351729, 20172854, 20699424, 20849207, 21619378, 22355267, 23054246, 23380588, 23642322, 24115837, 24243630, 24599757, 24667128, 24751931, 25070550, 25239117, 25839937, 26031673, 26266351, 26369501, 26576960, 26934567, 27050191, 27206942, 27540175, 27594539, 27846466, 28025677, 28159968, 28166668, 28444187, 28502498, 28705542, 28894089, 29020353, 29103916, 29129821, 29366988, 29589064, 29622600, 29748315, 29885102, 29974199, 30033948, 30076455, 30112872, 30137516, 30170223, 30205809, 30326043, 30420622, 30947598, 30953636, 31020929, 31206403, 31207358, 31452340, 31493378, 31495548, 31679643, 31711505, 31818446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	21378990, 27135400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	29986042	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	39445733	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Autosomal Dominant 1	Coronary artery disease	Pubtator	22216278	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	15893176, 16554528, 16909389, 17142622, 17940607, 18262190, 18300938, 19001363, 19351729, 20172854, 22152955, 23054246, 23300213, 27049268, 27280970, 28768753, 29997226, 34341098, 34675202, 39358768	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	23642322, 24094767	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16554528, 16943719, 17142622, 17215125, 17502126, 17550346, 17940607, 18262190, 18672372, 18708425, 19001363, 19075777, 19191301, 19191720, 19319977, 19351729, 20172854, 20699424, 20849207, 21619378, 22152955, 22244043, 22355267, 23054246, 23380588, 23553812, 23642322, 24115837, 24507774, 24599757, 24667128, 24751931, 25070550, 25185437, 25239117, 25839937, 26369501, 26576960, 26934567, 27221501, 27540175, 27594539, 27739219, 27846466, 28025677, 28166668, 28412198, 28444187, 28456096, 28502498, 28894089, 29020353, 29103916, 29366988, 29589064, 29622600, 29748315, 29800275, 29885102, 29926099, 29974199, 30076455, 30112872, 30326043, 30420622, 30947598, 30953636, 31020929, 31206403, 31207358, 31495548, 31679643		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	16554528		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	34075144	Associate	★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	Pubtator	35677050	Stimulate	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	27049268	Stimulate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 15	Deafness	Pubtator	33886544	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	29084995		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28438747, 30933362, 33166319, 36285785	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30933362		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	28438747	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29986042		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	29986042	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	36580462	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24135527, 26687699, 26946290, 27804190, 27908689, 27959767, 28025677, 28093849, 28111330, 28844508, 28871349, 28911508, 28927706, 29180351, 30199407, 30485622, 30487231, 31002453, 31029825, 31272931, 31521544, 31623472, 31672148, 31758270, 31823301		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35498417	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24135527, 26687699, 26946290, 27804036, 27804190, 27908689, 27959767, 28025677, 28093849, 28111330, 28206704, 28347654, 28844508, 28871349, 28886926, 28911508, 28927706, 29180351, 29306457, 29377473, 29409336, 29802688, 30183102, 30199407, 30338502, 30485622, 30487231, 30786741, 30910670, 31002453, 31029825, 31270529, 31272931, 31521544, 31623472, 31672148, 31732461, 31758270, 31823301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	27959767, 30779729, 31672148, 35660019, 36142332	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	27908689	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27908689, 29997226, 31664920, 33302966, 35733117, 40071808	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27804190, 30453116		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21411093, 21497351, 26049403, 26833058, 27488210, 27701660, 27908689, 28093849, 28128061, 28295777, 28453187, 28545518, 28938493, 29103916, 29180351, 29205760, 29436756, 29962050, 29982592, 30326043, 30593607, 30645167, 31002456, 31114503, 31133497, 31664920, 31706300, 31835041		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	40225015	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	40225015	Stimulate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29197601		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	16487721, 18708425, 19063703, 21539517, 22811413, 23578522, 23973703, 24667128, 25444750, 25911073, 27246356, 27358438, 27359211, 27575716, 27713142, 28084558, 28137217, 28155622, 28429242, 28450903, 28529918, 28532784, 28545518, 28550381, 28557865, 28572002, 28695455, 28739196, 28857822, 29109005, 29436756, 29438441, 29463608, 29724976, 29742924, 29800275, 29807195, 29962050, 30121647, 30233497, 30289004, 30317985, 30370486, 30420622, 30453116, 30487231, 30550765, 30650126, 31002453, 31020929, 31085239, 31190079, 31302760, 31473249, 31641998, 31706300, 31812013, 31818299		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	17351764		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	21497351, 23386099, 29724976, 29807195, 31480784, 32929056, 37582372	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	28727814		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29773421		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	CLINVAR_DG	17316651, 20006333, 21146822, 24859021, 25962062, 26374825		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	23537802, 24870549, 25014035, 25023731, 25282520, 27839699, 28215937, 29096860, 29396260, 29511875, 30795984, 31238171, 31685212, 31782556		★☆☆☆☆ Found in Text Mining only
Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	BEFREE	16619215, 17170371, 17570373, 19762784, 22155345, 24751931, 26586530, 27179706, 27804036		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fatty Liver	Fatty Liver	BEFREE	28758421, 29712938, 30261472, 31004037, 31085239		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34876018, 40250425	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17570373, 30261472		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28515357, 31776890		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28334053, 31553664		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26045785	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	33488522	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29259136	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29378408		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28674132, 28911508, 29050560, 29205760, 29589064		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31509211	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31812013		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	29120899	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	31173243		★☆☆☆☆ Found in Text Mining only
Homozygous familial hypercholesterolemia	Homozygous Hypercholesterolemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperaldosteronism	Hyperaldosteronism	BEFREE	30569443		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	BEFREE	22203740, 22447138		★☆☆☆☆ Found in Text Mining only
HYPERALDOSTERONISM, FAMILIAL, TYPE IV	Hyperaldosteronism	BEFREE	28400483, 29348113		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	CTD_human_DG	12730697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	LHGDN	14727179, 15772090, 17435765, 18266662, 18799458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	15772090, 16183066, 16571601, 16777760, 17215125, 17435765, 17493938, 17495605, 18266662, 18354137, 18559913, 18672372, 18708425, 19191301, 19224862, 20006333, 20073037, 20172854, 20448210, 20529551, 21040917, 21204732, 21619378, 21943799, 22311433, 22519528, 22683120, 22875854, 23308045, 23317404, 23973703, 24373748, 24625727, 24632287, 24793346, 25052769, 25248569, 25341796, 25444750, 25881720, 25989132, 26318398, 26424774, 26503748, 26789774, 26824363, 27014949, 27015087, 27195910, 27358438, 27822850, 27920219, 28128061, 28159968, 28199412, 28204827, 28412198, 28515357, 28549755, 28587771, 28637178, 28799203, 28879791, 28966647, 28978793, 29096860, 29148854, 29175268, 29185237, 29209441, 29210646, 29217509, 29223954, 29411675, 29451410, 29544724, 29578362, 29649884, 29650402, 29667842, 29692249, 29724976, 29748315, 29800228, 29985478, 30115989, 30235833, 30253291, 30270085, 30338502, 30448414, 30550765, 30629143, 30646909, 30650126, 30663261, 30732185, 30782243, 30842207, 30875237, 30892945, 30950043, 30953636, 31227343, 31236571, 31238171, 31246589, 31281070, 31292220, 31564372, 31593224, 31679643, 31767518, 31773344, 31818299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	Pubtator	15893176, 16875509, 16912035, 18266662, 18354137, 19224862, 20172854, 22875854, 23642322, 23951290, 24632287, 26318398, 29185237, 29997226, 30266833, 30634533, 31480784, 33147992, 33461570, 36430776, 36601873, 36980993, 37957262, 40225943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG	23433573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	Pubtator	28199412	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3	Hypercholesterolemia	UNIPROT_DG	12730697, 18799458, 24808179		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3	Hypercholesterolemia	CLINVAR_DG	16183066, 17765244, 18266662, 18631360, 19081568, 20006333, 22683120, 23375686, 23680767, 24607922, 25014035, 26374825, 27206942, 27280970, 27896130, 28777095		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3	Hypercholesterolemia	GENOMICS_ENGLAND_DG	16909389, 23433573		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3	Hypercholesterolemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	22398274, 27079874, 30318064, 30777337		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	LHGDN	12730697, 15099351, 16183066, 16211558, 18559913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	15099351, 15530918, 15772090, 16159606, 16183066, 16314194, 16424354, 16806138, 16989838, 17142622, 17274457, 17550346, 17765244, 18354137, 18757057, 19001363, 19063703, 19224862, 19319977, 19797716, 19917273, 20006333, 20073037, 20529551, 20538126, 20736250, 20828696, 21115573, 21352602, 21920719, 21925044, 22112743, 22244043, 22353362, 22375030, 22544571, 22683370, 22883975, 23130880, 23510778, 23535506, 23537714, 23537802, 23593297, 23907036, 24234650, 24249837, 24420163, 24899514, 25014035, 25052769, 25248569, 25278291, 25612857, 25624525, 25839937, 25856746, 25881720, 26020417, 26165249, 26371983, 26632531, 26643808, 26687699, 26892515, 26892961, 26959706, 26987067, 27050191, 27079874, 27126396, 27206942, 27261867, 27422124, 27458166, 27578116, 27594539, 27797643, 27804036, 27932355, 27998977, 28025677, 28104544, 28137217, 28159968, 28161202, 28235710, 28242176, 28262545, 28329114, 28331223, 28351002, 28405938, 28482694, 28550993, 28555526, 28577571, 28618994, 28619117, 28644091, 28674132, 28777095, 28784313, 28817709, 28831261, 28849360, 28873201, 28965614, 29038906, 29084735, 29096867, 29102496, 29127338, 29213121, 29241886, 29269200, 29306457, 29326146, 29334796, 29389714, 29398508, 29665449, 29685591, 29685715, 29720182, 29758414, 29802317, 29899171, 29994808, 30033948, 30056842, 30093300, 30170223, 30269829, 30270088, 30287608, 30308187, 30317985, 30318065, 30344049, 30360706, 30372843, 30415195, 30420622, 30579649, 30681615, 30710474, 30876527, 30949068, 31100618, 31151804, 31231083, 31238171, 31246589, 31280039, 31345425, 31386798, 31518966, 31604401, 31767518, 31805108, 31809983, 31833051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	CLINVAR_DG	22683120, 24115837, 26036859, 26374825, 27998977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	GENOMICS_ENGLAND_DG	23433573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	30634533		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29660344		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24721682, 29396908, 29982592		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	16794006, 21619378, 24308640, 25341796, 26493351, 28000893, 28291840, 28304296, 28424973, 28504688, 28689410, 29095667, 29172973, 29221604, 29453308, 29511875, 29736889, 29737499, 29962050, 29986989, 30066942, 30280628, 30335889, 30668438, 30767742, 30828741, 30842207, 31049833, 31058470, 31119582, 31484695, 31779098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	18708425, 21539517, 24811296, 29190549		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	29997226	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	30280628	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	10205269, 15893176, 16465619, 17964958, 18033751, 18245819, 18266662, 18354137, 18547436, 19001363, 19224862, 19571328, 19768174, 20571503, 20809525, 21146822, 22294733, 22375030, 22949395, 23064986, 23535506, 23537714, 23593297, 24632287, 25210046, 25962062, 26020417, 26036859, 26374825, 26415676, 26632531, 26802169, 26892515, 27050191, 28619117, 28777095, 28817709, 28851085, 28873201, 28958330, 29127338, 29213121, 29259136, 29261184, 29374275, 29386597, 29396260, 29561990, 30093300, 30269829, 30270359, 30318065, 30555118, 30593551, 30681615, 30971288, 31106297, 31345425, 31427613, 31767518, 31805108, 31932084, 31949048, 32078365, 32331936, 32459195, 32606442, 32660911, 32846800, 32878475, 32929056, 33028190, 33096472, 33147992, 33418990, 33533259, 33601267, 33642439, 34011801, 34193720, 34297352, 34407635, 34425670, 34573395, 34652028, 34848321, 34876165, 34948399, 35052492, 35741760, 36011335, 36167182, 36173399, 36648309, 36834740, 37185657, 37217153, 37853441, 38122934, 39500114, 40225943, 40362720	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	19571328, 23537802, 26036859, 28199412	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12730697, 14727156, 14727179, 15099351, 15166014, 15523646, 15530918, 15767856, 15893176, 16159606, 16183066, 16211558, 16314194, 16424354, 16465619, 16487721, 16777760, 16806138, 16989838, 17274457, 17550346, 17765244, 17964958, 18245819, 18354137, 18559913, 18757057, 19001363, 19063703, 19224862, 19319977, 19797716, 19917273, 20006333, 20144596, 20145306, 20529551, 20538126, 20809525, 20849207, 21352602, 21872251, 21920719, 21943799, 22112743, 22244043, 22353362, 22375030, 22417841, 22534770, 22544571, 22683120, 22683370, 22910581, 22949395, 23130880, 23283366, 23510778, 23535506, 23537714, 23537802, 23593297, 23907036, 24249837, 24267230, 24420163, 25014035, 25052769, 25248569, 25278291, 25612857, 25839937, 26020417, 26165249, 26371983, 26374825, 26424774, 26586530, 26632531, 26687699, 26892515, 26892961, 26959706, 26987067, 27014949, 27050191, 27079874, 27206942, 27261867, 27422124, 27458166, 27578116, 27594539, 27797643, 27804036, 27919364, 27932355, 27998977, 28104544, 28137217, 28161202, 28179607, 28235710, 28242176, 28262545, 28331223, 28351002, 28459663, 28502508, 28506389, 28531826, 28550993, 28555526, 28577571, 28618994, 28619117, 28777095, 28784313, 28817709, 28831261, 28849360, 28873201, 28965614, 29038906, 29084735, 29096867, 29102496, 29127338, 29213121, 29241886, 29269200, 29306457, 29326146, 29334796, 29389714, 29398508, 29665449, 29685591, 29720182, 29758414, 29899171, 29994808, 30033948, 30056842, 30093300, 30170223, 30269829, 30270083, 30270088, 30293936, 30308187, 30317985, 30318065, 30344049, 30372843, 30415195, 30681615, 30710474, 30876527, 30949068, 31151804, 31231083, 31238171, 31246589, 31280039, 31345425, 31386798, 31491741, 31518966, 31604401, 31669498, 31711505, 31767518, 31805108, 31809983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	BEFREE	21539517, 24308640, 28988723		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	Pubtator	22764087	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	29096860		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35501368	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26266351, 28587771, 31065993		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	31480784	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29994808		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29994808		★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial 1	Hypoalphalipoproteinemia	Pubtator	28633452	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemia Familial 2	Hypoalphalipoproteinemia	Pubtator	28633452	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	17170371, 19191301, 19762784, 24751931, 28711549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	21502677, 27179706, 31653860, 32173689, 33207932, 37302939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocholesterolemia	Hypocholesterolemia	BEFREE	16424354, 16571601, 16619215, 17461796, 17493938, 17495605, 17502126, 18649882, 18680192, 18710658, 21040917, 21619378, 21943799, 25052769, 28711549, 31805108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocholesterolemia	Hypocholesterolemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	26493351		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30233497		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31013581		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26061568, 31437157		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29946054, 31672148, 33302966	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39358768	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17940607, 24599757, 25266949, 26666837, 28549755, 29020353, 31076261, 31250580, 31270529, 31732461		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27501130, 30550765, 31190079, 31317882		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30676701, 30921469		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	39379957	Inhibit	★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	27422124, 28721159, 29210646, 30121647, 30443213, 30681615		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27758865, 28178673, 28827398, 30615941, 31812013		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33461570	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23409034, 9510477	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34928185	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30603640		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30603640		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	26045785		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	29650402		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30262900, 31110521		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28565798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28442922		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23317404, 28453187, 28595267, 31110520, 31110521		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31110520		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31110521		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23308045, 23317404		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29986042		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26833058, 27488210, 29296222, 29343301, 30768966		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27488210	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	27488210, 27540175, 31672148, 34864314	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27488210, 28749722, 29296222, 29493859, 31002780, 31672148		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33576442	Stimulate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	35501368, 36285785, 36580462	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28994502		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16943719, 18343176, 20699424, 22923420, 27218270, 28330911, 29205760, 29569492, 29622600, 29626068, 29802317, 30702994, 30729307, 30842207, 30926528, 30971288, 31076261, 31121022, 31191304, 31270529, 31664920, 31679643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	18499582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	20699424, 22714699, 28330911, 29802317, 30971288, 31664920, 31969932, 33533259, 33642439, 40076866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	25180781	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	20579540, 26859812, 28674132, 29800228, 31746997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	25412415, 29396305, 37940228	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	28736830, 28994502, 29056268		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28178673, 31110520		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GWASCAT_DG	22544364		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GWASDB_DG	22544364		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	27358438, 28084558, 28683788, 28994502, 31157893, 31190079		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	29185237		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29185237	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28304296, 29562508		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	30471555		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia	Hypercholesterolemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27222915, 27754444, 28711549, 28827398, 30317984, 30615941		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31327024		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30261472		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23039238, 31672148, 34075144, 38272483	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27488210, 28093849, 29453308, 30092639, 30645167, 31473249, 31672148		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	28938493		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32068819	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28438747	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	30645167		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	29516504		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	22992388, 29294034, 29516504		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	18436227, 33166319, 39304430	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	18436227, 29133605, 29169069, 29296222, 29413998, 30012326, 30170223, 31281070		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	29133605, 29296222		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	18436227, 29169069, 30012326, 31281070		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29109005, 29660344, 30768966		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	32606442	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29081489		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	31812013		★☆☆☆☆ Found in Text Mining only
Premature arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30933362		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28442922		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36595504	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	25064003		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	25064003	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30395847		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38198221, 40522254	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	23900982		★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30676701, 31630870, 31641998		★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	38198221	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	38198221	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30695794		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	31509211	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27920219, 28063230, 28600283, 29342010, 29510719, 29994840, 30002483, 30473376, 30726226, 30914377, 31332258, 31635200		★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	BEFREE	30033951		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	29185237		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	30816133		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	28616272, 31672148		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27222915, 28711549, 28758421, 29712938, 30261472, 31004037, 31085239		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23161554, 38275613	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	17940607, 25266949, 27280970, 29146683	Associate	★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26820623	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	31332258		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	31732461		★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	30297903		★☆☆☆☆ Found in Text Mining only
Tyrosinemias	Tyrosinemia	BEFREE	30297903		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	18262190, 24251769, 29306457, 30369323, 30650126		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18262190, 34336112, 34864314, 38198221	Associate	★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	25278291		★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	BEFREE	28623742		★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	BEFREE	16183066, 25278291		★☆☆☆☆ Found in Text Mining only