LIPA (lipase A, lysosomal acid type)

Gene

• Entrez ID: 3988
• Gene name: Lipase A, lysosomal acid type
• Gene symbol: LIPA
• Synonyms (NCBI Gene): CESD, LAL
• Disease Acronyms (UniProt): CESD
• Chromosome: 10
• Chromosome location: 10q23.31
• Summary: This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman diseas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2228159	A>C,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116928232	C>G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121965086	A>G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121965087	G>C	Pathogenic	Intron variant, stop gained, coding sequence variant
rs139282720	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143930279	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs145066614	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs145163592	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147493628	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs200186130	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200420117	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201603238	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs267607218	C>A	Pathogenic	Coding sequence variant, stop gained
rs367664486	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs369755163	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371133960	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs529668674	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs534838107	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587778878	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs747214463	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs747508159	T>A,C	Likely-pathogenic	Splice acceptor variant
rs748267444	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs749180806	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs749625288	A>C,G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs751625944	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs753796180	->GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, initiator codon variant
rs754124986	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs754964952	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs756016704	G>-	Pathogenic	Coding sequence variant, stop gained
rs756310979	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs760901300	A>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs762559980	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs762960877	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs766062562	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs766364179	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs767688436	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs768411839	T>A,C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs768826988	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs770074196	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs771904218	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs772137750	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs772684869	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773533216	A>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs776294856	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs776472526	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs779712562	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs780495201	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs797045094	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs912441212	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1011619050	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs1204744283	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1306336545	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1326903845	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1393039920	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1423914418	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1446626293	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1457072724	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554864404	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1554865199	A>G	Likely-pathogenic	Splice donor variant
rs1554865206	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554865214	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554865576	A>C	Pathogenic	Stop gained, coding sequence variant
rs1554866004	C>T	Likely-pathogenic	Splice donor variant
rs1554866097	A>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs1554869292	A>C	Likely-pathogenic	Intron variant, splice donor variant
rs1564751995	C>T	Pathogenic	Splice donor variant
rs1564752665	TTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564754574	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1564755287	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589548972	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1589553174	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1589556901	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1589558062	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1589558169	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1589558218	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1589558414	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018033	hsa-miR-335-5p	Microarray	18185580
MIRT024588	hsa-miR-215-5p	Microarray	19074876
MIRT026530	hsa-miR-192-5p	Microarray	19074876
MIRT037705	hsa-miR-744-5p	CLASH	23622248
MIRT054198	hsa-miR-125b-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22723551
MIRT556519	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT556518	hsa-miR-548ab	PAR-CLIP	21572407
MIRT556517	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT556516	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT556515	hsa-miR-548ak	PAR-CLIP	21572407
MIRT556514	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT556513	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT556512	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT556511	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT556510	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT556509	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT556508	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT556507	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT556506	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT556505	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT556504	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT556503	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT556502	hsa-miR-548i	PAR-CLIP	21572407
MIRT556501	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT556500	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT556499	hsa-miR-548w	PAR-CLIP	21572407
MIRT556498	hsa-miR-548y	PAR-CLIP	21572407
MIRT556497	hsa-miR-559	PAR-CLIP	21572407
MIRT556496	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT556495	hsa-miR-548k	PAR-CLIP	21572407
MIRT556493	hsa-miR-8054	PAR-CLIP	21572407
MIRT556494	hsa-miR-548l	PAR-CLIP	21572407
MIRT556492	hsa-miR-944	PAR-CLIP	21572407
MIRT556491	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT556489	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT556490	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT556488	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT556487	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT556486	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT556485	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT556483	hsa-miR-3666	PAR-CLIP	21572407
MIRT556484	hsa-miR-4295	PAR-CLIP	21572407
MIRT556482	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT556481	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT556480	hsa-miR-2115-3p	PAR-CLIP	21572407
MIRT556479	hsa-miR-4660	PAR-CLIP	21572407
MIRT556478	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT556477	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT556476	hsa-miR-4473	PAR-CLIP	21572407
MIRT556475	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT556474	hsa-miR-5047	PAR-CLIP	21572407
MIRT556473	hsa-miR-6083	PAR-CLIP	21572407
MIRT556519	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT556518	hsa-miR-548ab	PAR-CLIP	21572407
MIRT556517	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT556516	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT556515	hsa-miR-548ak	PAR-CLIP	21572407
MIRT556514	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT556513	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT556512	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT556511	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT556510	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT556509	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT556508	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT556507	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT556506	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT556505	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT556504	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT556503	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT556502	hsa-miR-548i	PAR-CLIP	21572407
MIRT556501	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT556500	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT556499	hsa-miR-548w	PAR-CLIP	21572407
MIRT556498	hsa-miR-548y	PAR-CLIP	21572407
MIRT556497	hsa-miR-559	PAR-CLIP	21572407
MIRT556496	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT556495	hsa-miR-548k	PAR-CLIP	21572407
MIRT556493	hsa-miR-8054	PAR-CLIP	21572407
MIRT556494	hsa-miR-548l	PAR-CLIP	21572407
MIRT556492	hsa-miR-944	PAR-CLIP	21572407
MIRT556491	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT556489	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT556490	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT556488	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT556487	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT556486	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT556485	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT556483	hsa-miR-3666	PAR-CLIP	21572407
MIRT556484	hsa-miR-4295	PAR-CLIP	21572407
MIRT556482	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT556481	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT556480	hsa-miR-2115-3p	PAR-CLIP	21572407
MIRT556479	hsa-miR-4660	PAR-CLIP	21572407
MIRT556478	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT556477	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT556476	hsa-miR-4473	PAR-CLIP	21572407
MIRT556475	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT556474	hsa-miR-5047	PAR-CLIP	21572407
MIRT556473	hsa-miR-6083	PAR-CLIP	21572407
MIRT1110553	hsa-miR-1249	CLIP-seq
MIRT1110554	hsa-miR-1301	CLIP-seq
MIRT1110555	hsa-miR-130a	CLIP-seq
MIRT1110556	hsa-miR-130b	CLIP-seq
MIRT1110557	hsa-miR-301a	CLIP-seq
MIRT1110558	hsa-miR-301b	CLIP-seq
MIRT1110559	hsa-miR-3173-5p	CLIP-seq
MIRT1110560	hsa-miR-3672	CLIP-seq
MIRT1110561	hsa-miR-452	CLIP-seq
MIRT1110562	hsa-miR-454	CLIP-seq
MIRT1110563	hsa-miR-548h	CLIP-seq
MIRT1110564	hsa-miR-548j	CLIP-seq
MIRT1110565	hsa-miR-563	CLIP-seq
MIRT1110566	hsa-miR-584	CLIP-seq
MIRT1110567	hsa-miR-656	CLIP-seq
MIRT1110568	hsa-miR-892b	CLIP-seq
MIRT1110569	hsa-miR-1205	CLIP-seq
MIRT1110570	hsa-miR-1286	CLIP-seq
MIRT1110554	hsa-miR-1301	CLIP-seq
MIRT1110555	hsa-miR-130a	CLIP-seq
MIRT1110556	hsa-miR-130b	CLIP-seq
MIRT1110571	hsa-miR-224	CLIP-seq
MIRT1110557	hsa-miR-301a	CLIP-seq
MIRT1110558	hsa-miR-301b	CLIP-seq
MIRT1110572	hsa-miR-3144-3p	CLIP-seq
MIRT1110573	hsa-miR-3163	CLIP-seq
MIRT1110574	hsa-miR-3662	CLIP-seq
MIRT1110575	hsa-miR-3675-3p	CLIP-seq
MIRT1110576	hsa-miR-370	CLIP-seq
MIRT1110577	hsa-miR-4276	CLIP-seq
MIRT1110561	hsa-miR-452	CLIP-seq
MIRT1110562	hsa-miR-454	CLIP-seq
MIRT1110578	hsa-miR-4697-3p	CLIP-seq
MIRT1110579	hsa-miR-4720-3p	CLIP-seq
MIRT1110580	hsa-miR-4722-5p	CLIP-seq
MIRT1110581	hsa-miR-4729	CLIP-seq
MIRT1110582	hsa-miR-4760-5p	CLIP-seq
MIRT1110583	hsa-miR-501-3p	CLIP-seq
MIRT1110584	hsa-miR-502-3p	CLIP-seq
MIRT1110585	hsa-miR-542-3p	CLIP-seq
MIRT1110563	hsa-miR-548h	CLIP-seq
MIRT1110564	hsa-miR-548j	CLIP-seq
MIRT1110586	hsa-miR-570	CLIP-seq
MIRT1110587	hsa-miR-606	CLIP-seq
MIRT1110588	hsa-miR-616	CLIP-seq
MIRT1110589	hsa-miR-875-5p	CLIP-seq
MIRT2030893	hsa-miR-1290	CLIP-seq
MIRT2030894	hsa-miR-1299	CLIP-seq
MIRT2030895	hsa-miR-3145-3p	CLIP-seq
MIRT2030896	hsa-miR-3167	CLIP-seq
MIRT2030897	hsa-miR-3689a-5p	CLIP-seq
MIRT2030898	hsa-miR-3689b	CLIP-seq
MIRT2030899	hsa-miR-3689e	CLIP-seq
MIRT2030900	hsa-miR-3689f	CLIP-seq
MIRT2030901	hsa-miR-3977	CLIP-seq
MIRT2030902	hsa-miR-4679	CLIP-seq
MIRT2030903	hsa-miR-4782-5p	CLIP-seq
MIRT1110583	hsa-miR-501-3p	CLIP-seq
MIRT1110584	hsa-miR-502-3p	CLIP-seq
MIRT2030904	hsa-miR-516b	CLIP-seq
MIRT2030905	hsa-miR-579	CLIP-seq
MIRT2030906	hsa-miR-876-5p	CLIP-seq
MIRT2261542	hsa-miR-1197	CLIP-seq
MIRT2261543	hsa-miR-125a-5p	CLIP-seq
MIRT2261544	hsa-miR-125b	CLIP-seq
MIRT2261545	hsa-miR-2355-3p	CLIP-seq
MIRT2261546	hsa-miR-3160-3p	CLIP-seq
MIRT2261547	hsa-miR-3646	CLIP-seq
MIRT1110574	hsa-miR-3662	CLIP-seq
MIRT2261548	hsa-miR-3687	CLIP-seq
MIRT2261549	hsa-miR-4319	CLIP-seq
MIRT2261550	hsa-miR-4442	CLIP-seq
MIRT2261551	hsa-miR-4487	CLIP-seq
MIRT2261552	hsa-miR-4508	CLIP-seq
MIRT2261553	hsa-miR-4645-3p	CLIP-seq
MIRT2261554	hsa-miR-4646-3p	CLIP-seq
MIRT2261555	hsa-miR-4682	CLIP-seq
MIRT2261556	hsa-miR-4698	CLIP-seq
MIRT2261557	hsa-miR-4732-3p	CLIP-seq
MIRT2261558	hsa-miR-558	CLIP-seq
MIRT1110586	hsa-miR-570	CLIP-seq
MIRT2261559	hsa-miR-590-3p	CLIP-seq
MIRT1110588	hsa-miR-616	CLIP-seq
MIRT2261560	hsa-miR-670	CLIP-seq
MIRT2261542	hsa-miR-1197	CLIP-seq
MIRT1110569	hsa-miR-1205	CLIP-seq
MIRT1110570	hsa-miR-1286	CLIP-seq
MIRT2030893	hsa-miR-1290	CLIP-seq
MIRT2030894	hsa-miR-1299	CLIP-seq
MIRT2390176	hsa-miR-1322	CLIP-seq
MIRT2390177	hsa-miR-144	CLIP-seq
MIRT2390178	hsa-miR-193a-3p	CLIP-seq
MIRT2390179	hsa-miR-193b	CLIP-seq
MIRT2261545	hsa-miR-2355-3p	CLIP-seq
MIRT2030895	hsa-miR-3145-3p	CLIP-seq
MIRT2030896	hsa-miR-3167	CLIP-seq
MIRT2261548	hsa-miR-3687	CLIP-seq
MIRT2030897	hsa-miR-3689a-5p	CLIP-seq
MIRT2030898	hsa-miR-3689b	CLIP-seq
MIRT2030899	hsa-miR-3689e	CLIP-seq
MIRT2030900	hsa-miR-3689f	CLIP-seq
MIRT1110576	hsa-miR-370	CLIP-seq
MIRT2261550	hsa-miR-4442	CLIP-seq
MIRT2261552	hsa-miR-4508	CLIP-seq
MIRT2261553	hsa-miR-4645-3p	CLIP-seq
MIRT2261554	hsa-miR-4646-3p	CLIP-seq
MIRT2030902	hsa-miR-4679	CLIP-seq
MIRT1110580	hsa-miR-4722-5p	CLIP-seq
MIRT2030903	hsa-miR-4782-5p	CLIP-seq
MIRT1110583	hsa-miR-501-3p	CLIP-seq
MIRT1110584	hsa-miR-502-3p	CLIP-seq
MIRT2030904	hsa-miR-516b	CLIP-seq
MIRT1110588	hsa-miR-616	CLIP-seq
MIRT2030906	hsa-miR-876-5p	CLIP-seq
MIRT1110568	hsa-miR-892b	CLIP-seq
MIRT2430742	hsa-miR-3179	CLIP-seq
MIRT2261542	hsa-miR-1197	CLIP-seq
MIRT2438353	hsa-miR-1262	CLIP-seq
MIRT2030893	hsa-miR-1290	CLIP-seq
MIRT2030894	hsa-miR-1299	CLIP-seq
MIRT2030895	hsa-miR-3145-3p	CLIP-seq
MIRT2030896	hsa-miR-3167	CLIP-seq
MIRT2261547	hsa-miR-3646	CLIP-seq
MIRT2438354	hsa-miR-3647-3p	CLIP-seq
MIRT1110574	hsa-miR-3662	CLIP-seq
MIRT2030897	hsa-miR-3689a-5p	CLIP-seq
MIRT2030898	hsa-miR-3689b	CLIP-seq
MIRT2030899	hsa-miR-3689e	CLIP-seq
MIRT2030900	hsa-miR-3689f	CLIP-seq
MIRT1110576	hsa-miR-370	CLIP-seq
MIRT2438355	hsa-miR-377	CLIP-seq
MIRT2438356	hsa-miR-4282	CLIP-seq
MIRT2261552	hsa-miR-4508	CLIP-seq
MIRT2030902	hsa-miR-4679	CLIP-seq
MIRT2438357	hsa-miR-4701-3p	CLIP-seq
MIRT2030903	hsa-miR-4782-5p	CLIP-seq
MIRT2438358	hsa-miR-4789-3p	CLIP-seq
MIRT2438359	hsa-miR-499-3p	CLIP-seq
MIRT2438360	hsa-miR-499a-3p	CLIP-seq
MIRT1110583	hsa-miR-501-3p	CLIP-seq
MIRT1110584	hsa-miR-502-3p	CLIP-seq
MIRT2030904	hsa-miR-516b	CLIP-seq
MIRT2438361	hsa-miR-549	CLIP-seq
MIRT1110586	hsa-miR-570	CLIP-seq
MIRT2030905	hsa-miR-579	CLIP-seq
MIRT2261559	hsa-miR-590-3p	CLIP-seq
MIRT1110567	hsa-miR-656	CLIP-seq
MIRT2030906	hsa-miR-876-5p	CLIP-seq
MIRT1110569	hsa-miR-1205	CLIP-seq
MIRT2561569	hsa-miR-124	CLIP-seq
MIRT1110570	hsa-miR-1286	CLIP-seq
MIRT2030893	hsa-miR-1290	CLIP-seq
MIRT2030894	hsa-miR-1299	CLIP-seq
MIRT2561570	hsa-miR-151-3p	CLIP-seq
MIRT2261545	hsa-miR-2355-3p	CLIP-seq
MIRT2030895	hsa-miR-3145-3p	CLIP-seq
MIRT1110573	hsa-miR-3163	CLIP-seq
MIRT2030896	hsa-miR-3167	CLIP-seq
MIRT2430742	hsa-miR-3179	CLIP-seq
MIRT2561571	hsa-miR-3201	CLIP-seq
MIRT1110574	hsa-miR-3662	CLIP-seq
MIRT1110575	hsa-miR-3675-3p	CLIP-seq
MIRT2030897	hsa-miR-3689a-5p	CLIP-seq
MIRT2030898	hsa-miR-3689b	CLIP-seq
MIRT2030899	hsa-miR-3689e	CLIP-seq
MIRT2030900	hsa-miR-3689f	CLIP-seq
MIRT1110576	hsa-miR-370	CLIP-seq
MIRT2561572	hsa-miR-3714	CLIP-seq
MIRT2438355	hsa-miR-377	CLIP-seq
MIRT2561573	hsa-miR-3910	CLIP-seq
MIRT2561574	hsa-miR-3941	CLIP-seq
MIRT2438356	hsa-miR-4282	CLIP-seq
MIRT2561575	hsa-miR-4477b	CLIP-seq
MIRT2561576	hsa-miR-4643	CLIP-seq
MIRT2261553	hsa-miR-4645-3p	CLIP-seq
MIRT2261554	hsa-miR-4646-3p	CLIP-seq
MIRT2561577	hsa-miR-466	CLIP-seq
MIRT2561578	hsa-miR-4672	CLIP-seq
MIRT2030902	hsa-miR-4679	CLIP-seq
MIRT1110580	hsa-miR-4722-5p	CLIP-seq
MIRT1110581	hsa-miR-4729	CLIP-seq
MIRT1110582	hsa-miR-4760-5p	CLIP-seq
MIRT2561579	hsa-miR-4781-5p	CLIP-seq
MIRT2030903	hsa-miR-4782-5p	CLIP-seq
MIRT2438358	hsa-miR-4789-3p	CLIP-seq
MIRT2561580	hsa-miR-4791	CLIP-seq
MIRT1110583	hsa-miR-501-3p	CLIP-seq
MIRT1110584	hsa-miR-502-3p	CLIP-seq
MIRT2561581	hsa-miR-506	CLIP-seq
MIRT2561582	hsa-miR-513a-3p	CLIP-seq
MIRT2030904	hsa-miR-516b	CLIP-seq
MIRT2561583	hsa-miR-548a-3p	CLIP-seq
MIRT2561584	hsa-miR-548ac	CLIP-seq
MIRT2561585	hsa-miR-548ae	CLIP-seq
MIRT2561586	hsa-miR-548aj	CLIP-seq
MIRT2561587	hsa-miR-548am	CLIP-seq
MIRT2561588	hsa-miR-548d-3p	CLIP-seq
MIRT2561589	hsa-miR-548e	CLIP-seq
MIRT2561590	hsa-miR-548f	CLIP-seq
MIRT2561591	hsa-miR-548x	CLIP-seq
MIRT2561592	hsa-miR-548z	CLIP-seq
MIRT2438361	hsa-miR-549	CLIP-seq
MIRT1110586	hsa-miR-570	CLIP-seq
MIRT2561593	hsa-miR-576-3p	CLIP-seq
MIRT2261559	hsa-miR-590-3p	CLIP-seq
MIRT1110587	hsa-miR-606	CLIP-seq
MIRT1110588	hsa-miR-616	CLIP-seq
MIRT1110567	hsa-miR-656	CLIP-seq
MIRT2561594	hsa-miR-676	CLIP-seq
MIRT2030906	hsa-miR-876-5p	CLIP-seq
MIRT1110569	hsa-miR-1205	CLIP-seq
MIRT2561569	hsa-miR-124	CLIP-seq
MIRT1110570	hsa-miR-1286	CLIP-seq
MIRT2030893	hsa-miR-1290	CLIP-seq
MIRT2030894	hsa-miR-1299	CLIP-seq
MIRT2683922	hsa-miR-140-5p	CLIP-seq
MIRT2561570	hsa-miR-151-3p	CLIP-seq
MIRT2683923	hsa-miR-216a	CLIP-seq
MIRT2683924	hsa-miR-216b	CLIP-seq
MIRT2261545	hsa-miR-2355-3p	CLIP-seq
MIRT1110572	hsa-miR-3144-3p	CLIP-seq
MIRT2030895	hsa-miR-3145-3p	CLIP-seq
MIRT1110573	hsa-miR-3163	CLIP-seq
MIRT2030896	hsa-miR-3167	CLIP-seq
MIRT2430742	hsa-miR-3179	CLIP-seq
MIRT2561571	hsa-miR-3201	CLIP-seq
MIRT2683925	hsa-miR-323-3p	CLIP-seq
MIRT2683926	hsa-miR-3545-5p	CLIP-seq
MIRT1110574	hsa-miR-3662	CLIP-seq
MIRT1110575	hsa-miR-3675-3p	CLIP-seq
MIRT2030897	hsa-miR-3689a-5p	CLIP-seq
MIRT2030898	hsa-miR-3689b	CLIP-seq
MIRT2030899	hsa-miR-3689e	CLIP-seq
MIRT2030900	hsa-miR-3689f	CLIP-seq
MIRT1110576	hsa-miR-370	CLIP-seq
MIRT2561572	hsa-miR-3714	CLIP-seq
MIRT2438355	hsa-miR-377	CLIP-seq
MIRT2561573	hsa-miR-3910	CLIP-seq
MIRT2561574	hsa-miR-3941	CLIP-seq
MIRT1110577	hsa-miR-4276	CLIP-seq
MIRT2438356	hsa-miR-4282	CLIP-seq
MIRT2683927	hsa-miR-4330	CLIP-seq
MIRT2683928	hsa-miR-4460	CLIP-seq
MIRT2683929	hsa-miR-4474-5p	CLIP-seq
MIRT2561575	hsa-miR-4477b	CLIP-seq
MIRT2561576	hsa-miR-4643	CLIP-seq
MIRT2261553	hsa-miR-4645-3p	CLIP-seq
MIRT2261554	hsa-miR-4646-3p	CLIP-seq
MIRT2561577	hsa-miR-466	CLIP-seq
MIRT2561578	hsa-miR-4672	CLIP-seq
MIRT2030902	hsa-miR-4679	CLIP-seq
MIRT1110580	hsa-miR-4722-5p	CLIP-seq
MIRT1110581	hsa-miR-4729	CLIP-seq
MIRT1110582	hsa-miR-4760-5p	CLIP-seq
MIRT2561579	hsa-miR-4781-5p	CLIP-seq
MIRT2030903	hsa-miR-4782-5p	CLIP-seq
MIRT2438358	hsa-miR-4789-3p	CLIP-seq
MIRT2561580	hsa-miR-4791	CLIP-seq
MIRT1110583	hsa-miR-501-3p	CLIP-seq
MIRT1110584	hsa-miR-502-3p	CLIP-seq
MIRT2561581	hsa-miR-506	CLIP-seq
MIRT2561582	hsa-miR-513a-3p	CLIP-seq
MIRT2030904	hsa-miR-516b	CLIP-seq
MIRT2561583	hsa-miR-548a-3p	CLIP-seq
MIRT2561584	hsa-miR-548ac	CLIP-seq
MIRT2561585	hsa-miR-548ae	CLIP-seq
MIRT2561586	hsa-miR-548aj	CLIP-seq
MIRT2561587	hsa-miR-548am	CLIP-seq
MIRT2561588	hsa-miR-548d-3p	CLIP-seq
MIRT2561589	hsa-miR-548e	CLIP-seq
MIRT2561590	hsa-miR-548f	CLIP-seq
MIRT2561591	hsa-miR-548x	CLIP-seq
MIRT2561592	hsa-miR-548z	CLIP-seq
MIRT2438361	hsa-miR-549	CLIP-seq
MIRT1110586	hsa-miR-570	CLIP-seq
MIRT2561593	hsa-miR-576-3p	CLIP-seq
MIRT2261559	hsa-miR-590-3p	CLIP-seq
MIRT1110587	hsa-miR-606	CLIP-seq
MIRT1110588	hsa-miR-616	CLIP-seq
MIRT1110567	hsa-miR-656	CLIP-seq
MIRT2561594	hsa-miR-676	CLIP-seq
MIRT1110589	hsa-miR-875-5p	CLIP-seq
MIRT2030906	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0004771	Function	Sterol esterase activity	IBA	21873635
GO:0004771	Function	Sterol esterase activity	IDA	1718995, 7204383, 8112342, 15269241
GO:0004771	Function	Sterol esterase activity	IMP	9633819
GO:0004771	Function	Sterol esterase activity	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006954	Process	Inflammatory response	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016125	Process	Sterol metabolic process	IBA	21873635
GO:0016298	Function	Lipase activity	IDA	1718995
GO:0030324	Process	Lung development	IEA
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0048771	Process	Tissue remodeling	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA

Other IDs

• MIM: 613497
• HGNC: 6617
• e!Ensembl: ENSG00000107798

Protein

• UniProt ID: P38571
• Protein name: Lysosomal acid lipase/cholesteryl ester hydrolase (Acid cholesteryl ester hydrolase) (LAL) (EC 3.1.1.13) (Cholesteryl esterase) (Diacylglycerol lipase) (Lipase A) (Sterol esterase) (Triacylglycerol ester hydrolase) (Triacylglycerol lipase)
• Protein function: Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglyc
• PDB: 6V7N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00561	Abhydrolase_1	80 → 381	alpha/beta hydrolase fold	Domain

• Tissue specificity: TISSUE SPECIFICITY: Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart. {ECO:0000269|PubMed:8112342}.
• Sequence:

  MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYI
  LCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNS
  RGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIG
  FIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFL
  KWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
  KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQI
  TNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ

• Sequence length: 399

Pathways

KEGG:

Steroid biosynthesis
Lysosome
Efferocytosis
Cholesterol metabolism

Reactome:

LDL clearance

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	8254026
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	23202125, 28714975, 26343387, 21378988, 29212778
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986	12666227
Hypercholesterolemia	Hypercholesterolemia, NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Niemann-pick disease	Niemann-Pick Disease, Type C	rs28942105, rs120074130, rs797044431, rs28942106, rs120074131, rs80358257, rs80358259, rs80358254, rs120074134, rs786200877, rs28942108, rs786200878, rs120074136, rs786200879, rs120074117, rs120074119, rs267607073, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs267607074, rs80358260, rs80358268, rs80358266, rs11694, rs104894457, rs104894458, rs80358253, rs80358258, rs80358262, rs80358263, rs80358267, rs80358264, rs80358265, rs398123474, rs398123476, rs182812968, rs398123478, rs398123479, rs281860677, rs587779408, rs483352886, rs483352888, rs483352893, rs727504166, rs727504165, rs727504167, rs543206298, rs369368181, rs786204506, rs786204733, rs786204694, rs786204514, rs753508874, rs370129081, rs758902805, rs200444084, rs786204455, rs143124972, rs786204512, rs139751448, rs372030650, rs794727252, rs120074118, rs769904764, rs797044797, rs747143343, rs875989833, rs875989835, rs875989832, rs875989837, rs875989834, rs771336819, rs879253740, rs377130051, rs770321568, rs886043098, rs759826138, rs1057516949, rs1057516722, rs1057517098, rs1057516931, rs868423827, rs1057517086, rs1057517195, rs748165078, rs989639224, rs120074122, rs750779804, rs1057517345, rs1057516432, rs1057516454, rs1057517390, rs1057516854, rs1057517200, rs943924098, rs373940701, rs1057516403, rs369098773, rs376213990, rs1057517455, rs762124334, rs1057516462, rs759075595, rs1057517826, rs757475924, rs1057517978, rs1554935254, rs750323164, rs886044580, rs1554935136, rs774943545, rs780592540, rs1342372980, rs756366019, rs773941375, rs1554934193, rs1428599096, rs1225462507, rs1554934212, rs1554934309, rs764317969, rs1554935555, rs1554935600, rs1554935610, rs281860663, rs1428487333, rs1554933746, rs750157176, rs1422720020, rs1554935273, rs1554935669, rs751269562, rs757934797, rs1554935439, rs756031857, rs1554935746, rs1205990349, rs1554933751, rs1554933780, rs1554934210, rs1423504237, rs1554934406, rs1554935285, rs1437508852, rs1555345616, rs1555346368, rs777654308, rs1555345873, rs1555346369, rs753419933, rs746715353, rs1555632003, rs753768576, rs202140203, rs749012588, rs1261939149, rs1555635957, rs377515417, rs794727629, rs745777805, rs765729815, rs770962157, rs1564923612, rs759389193, rs201550531, rs281860665, rs767899043, rs768299417, rs750292546, rs1590735238, rs1590735307, rs781535659, rs1590739350, rs1018556947, rs752148586, rs1470998208, rs755160837, rs779528546, rs748411156, rs1848015403, rs1319643225, rs2086689501	20557099
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Sphingomyelinase deficiency	Niemann-Pick Disease, Type D, Niemann-Pick Disease, Type C1	rs28940897, rs28942105, rs797044431, rs28942106, rs80358257, rs80358259, rs80358254, rs120074134, rs120074135, rs28942107, rs786200877, rs80358252, rs28942108, rs786200878, rs120074136, rs786200879, rs387906289, rs104894458, rs80358253, rs80358258, rs398123284, rs483352883, rs483352885, rs483352886, rs483352879, rs483352887, rs483352888, rs483352889, rs483352890, rs483352882, rs483352881, rs483352884, rs483352880, rs543206298, rs730880963, rs369368181, rs758902805, rs200444084, rs786204455, rs786204586, rs143124972, rs786204714, rs786204641, rs786204512, rs764472245, rs139751448, rs372030650, rs794727897, rs863224902, rs777286835, rs876661319, rs377130051, rs768999208, rs751951695, rs886041356, rs886042268, rs886042270, rs770321568, rs759826138, rs750095738, rs369098773, rs1057516647, rs1057517149, rs1057517194, rs781261962, rs1057516603, rs550562774, rs376213990, rs1057517197, rs1057517455, rs1057517077, rs1057516813, rs1057516950, rs756853895, rs762124334, rs1057516260, rs752409181, rs1057516749, rs1057517186, rs1057516462, rs759075595, rs1057517005, rs778878523, rs1057518613, rs757475924, rs1057517978, rs113371321, rs372445155, rs1057518711, rs917070773, rs1064794009, rs750323164, rs886044580, rs1064795718, rs1555638409, rs1555637255, rs1555631982, rs1555632994, rs774943545, rs780592540, rs775629081, rs1298238512, rs1555633454, rs1555631998, rs773941375, rs1555637139, rs1428599096, rs1555637232, rs1555632971, rs1555633361, rs753419933, rs1555631653, rs1555631888, rs1555631957, rs746715353, rs775915490, rs1555633309, rs1555631571, rs758231839, rs1555634513, rs1555634690, rs1555632003, rs1555632977, rs753768576, rs1555634236, rs202140203, rs1555637164, rs749012588, rs1555641027, rs770580241, rs1555645630, rs1555633118, rs1555633326, rs1555634422, rs1055204017, rs1555642347, rs1555631610, rs1555631642, rs1555632182, rs771806960, rs761910746, rs1261939149, rs1555634508, rs1555635957, rs377515417, rs1555638833, rs1555642296, rs751249367, rs745777805, rs1567977251, rs765729815, rs1567965488, rs756366019, rs1598954455, rs772898831, rs768299417, rs750292546, rs1169032037, rs1160114136, rs1599011473, rs1598942578, rs755160837, rs2058596611, rs2058574038, rs2058616798, rs2058768195, rs2058769608, rs2058949697, rs2059233403, rs2058678962, rs2059231880, rs144973225	20557099
Wolman disease	Wolman Disease, Acid cholesteryl ester hydrolase deficiency, type 2, Wolman disease	rs121965086, rs267607218, rs780495201, rs1564751995, rs121965087, rs587778878, rs116928232, rs756016704, rs1554865576, rs1457072724, rs753796180, rs1554866097, rs776472526, rs1204744283, rs762559980, rs766364179, rs779712562, rs1554865206, rs1554865214, rs772684869, rs770074196, rs762960877, rs1446626293, rs754964952, rs756310979, rs748267444, rs1423914418, rs1589558414, rs797045094, rs768411839, rs1410809018, rs1172318248	28502515, 9684740, 10562460, 25624737, 9367797, 11441129, 12666227, 21291321, 25620107, 8617513, 22227072, 21757691, 26252914, 31180157, 23583223, 24993530, 8254026, 9554751, 25525159, 10627498, 7499245, 22138108, 24792990, 2129132, 7833918, 21963785, 8598644, 24048164, 23424026, 23485521, 8146180, 8894696, 23430518, 7759067, 27604308, 24072694, 9633819, 8864960

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Coronary heart disease	Coronary heart disease		21606135, 21378988, 21966275	ClinVar
Myocardial infarction	Myocardial Infarction		26343387	ClinVar
Wolman Disease	Wolman disease			GenCC
Cholesterol Ester Storage Disease	cholesteryl ester storage disease			GenCC
Myocardial Infarction	Myocardial Infarction			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atherosclerosis	Associate	14522500
Brain Diseases Metabolic Inborn	Associate	22395809
Cholangiocarcinoma	Associate	36107601
Cholesterol Ester Storage Disease	Associate	16255772
Cirrhosis Cryptogenic	Inhibit	36326406
Colorectal Neoplasms	Associate	35172832
Coronary Artery Disease	Associate	12972290, 21966275, 24069331, 31645127, 35192625
Coronary Disease	Inhibit	12972290
Cystic Fibrosis	Associate	24586523
Diabetes Mellitus	Associate	22395809
Diabetes Mellitus Type 2	Associate	24069331
Dykes Markes Harper syndrome	Associate	8254026
Dyslipidemias	Associate	31330253, 33108087, 34476902
Fatty Liver	Associate	26927097, 31113613, 31155493, 32058863, 32463622, 34476902
Fibrosis	Associate	26927097, 31113613
Fibrosis	Inhibit	27219619, 32463622
Genetic Diseases Inborn	Associate	8864960
Heart Diseases	Associate	26913919
Hypercholesterolemia	Inhibit	12972290
Hypercholesterolemia	Associate	24069331, 31645127, 32058863
Hyperlipidemias	Associate	34476902, 7751811
Hyperlipoproteinemia Type II	Associate	179993, 27423329, 29561990, 30269829, 38122934
Hypertriglyceridemia	Associate	24069331
Hypoalphalipoproteinemias	Associate	24069331, 32058863, 34476902
Liver Cirrhosis	Inhibit	27219619
Liver Cirrhosis	Associate	31113597, 31113613
Liver Diseases	Associate	26927097
Liver Failure	Associate	26927097, 39201333
Lysosomal acid lipase deficiency	Associate	10627498, 15818756, 179993, 21757691, 21963785, 23424026, 25624737, 25852113, 27423329, 28502505, 29884776, 30684275, 31113597, 31180157, 31182375, 32058863, 32482718, 33108087, 33964214, 34476902, 35606784, 37470904, 39201333, 7751811, 8254026, 8864960, 9684740
Lysosomal acid lipase deficiency	Stimulate	34476902
Lysosomal Storage Diseases	Associate	22395809, 8146180
Metabolic Syndrome	Associate	24069331, 27827461
Metabolic Syndrome	Stimulate	32463622
Myocardial Infarction	Associate	24475106
Non alcoholic Fatty Liver Disease	Inhibit	32463622
Non alcoholic Fatty Liver Disease	Associate	34476902
Obesity	Associate	22395809
Schmid Fraccaro syndrome	Associate	26913919
Wolman Disease	Associate	10627498, 179993, 21963785, 22395809, 23424026, 25624737, 32482718, 35606784, 37470904, 8146180, 8864960, 9684740
Wolman Disease	Inhibit	28659158, 34020687