Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3988
Gene name	Lipase A, lysosomal acid type
Gene symbol	LIPA
Synonyms (NCBI Gene)	CESDLAL
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

Show/Hide all (76)

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

382

Show/Hide all (382)

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 assayMicroarrayqRT-PCRWestern 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

Show/Hide all (97)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0001889	Process	Liver development	IEA
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0002021	Process	Response to dietary excess	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002526	Process	Acute inflammatory response	IEA
GO:0002536	Process	Respiratory burst involved in inflammatory response	IEA
GO:0004771	Function	Sterol ester esterase activity	IBA
GO:0004771	Function	Sterol ester esterase activity	IDA	1718995, 7204383, 8112342, 15269241
GO:0004771	Function	Sterol ester esterase activity	IEA
GO:0004771	Function	Sterol ester esterase activity	IMP	9633819
GO:0004771	Function	Sterol ester esterase activity	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005764	Component	Lysosome	TAS	1718995
GO:0005829	Component	Cytosol	IDA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006638	Process	Neutral lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0006776	Process	Vitamin A metabolic process	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008333	Process	Endosome to lysosome transport	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0009409	Process	Response to cold	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010878	Process	Cholesterol storage	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016125	Process	Sterol metabolic process	IBA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016298	Function	Lipase activity	IDA	1718995
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030301	Process	Cholesterol transport	IEA
GO:0030324	Process	Lung development	IEA
GO:0030421	Process	Defecation	IEA
GO:0031929	Process	TOR signaling	IEA
GO:0033028	Process	Myeloid cell apoptotic process	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033993	Process	Response to lipid	IEA
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0035726	Process	Common myeloid progenitor cell proliferation	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042159	Process	Lipoprotein catabolic process	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0048536	Process	Spleen development	IEA
GO:0048539	Process	Bone marrow development	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0048871	Process	Multicellular organismal-level homeostasis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0060837	Process	Blood vessel endothelial cell differentiation	IEA
GO:0061519	Process	Macrophage homeostasis	IEA
GO:0070231	Process	T cell apoptotic process	IEA
GO:0070341	Process	Fat cell proliferation	IEA
GO:0071830	Process	Triglyceride-rich lipoprotein particle clearance	IEA
GO:0071838	Process	Cell proliferation in bone marrow	IEA
GO:0072576	Process	Liver morphogenesis	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0140354	Process	Lipid import into cell	IEA
GO:0140962	Process	Multicellular organismal-level chemical homeostasis	IEA
GO:1901355	Process	Response to rapamycin	IEA
GO:1903409	Process	Reactive oxygen species biosynthetic process	IEA
GO:1990845	Process	Adaptive thermogenesis	IEA

MIM	HGNC	e!Ensembl
613497	6617	ENSG00000107798

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

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Lysosome Efferocytosis Cholesterol metabolism		LDL clearance

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)

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs116928232	RCV005892122	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs121965086, rs116928232	RCV006342068 RCV002372140	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholesteryl ester storage disease	Likely pathogenic; Pathogenic	rs1564753490, rs2133429462, rs771330022, rs121965086, rs267607218, rs780495201, rs754124986, rs116928232, rs756016704, rs181646633, rs2495596309, rs2495584347, rs1554866004, rs1457072724, rs753796180 View all (24 more)	RCV005042692 RCV003989748 RCV005042605 RCV005430456 RCV001804146 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs116928232	RCV005892125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs116928232	RCV005892121	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs116928232	RCV005892124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LIPA-related disorder	Pathogenic; Likely pathogenic	rs267607218, rs780495201, rs116928232	RCV005867716 RCV004734493 RCV000778291	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs116928232	RCV005892128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysosomal acid lipase deficiency	Likely pathogenic; Pathogenic	rs2133411704, rs2133411275, rs2133413584, rs771330022, rs121965086, rs267607218, rs780495201, rs2133429402, rs2495640695, rs754033834, rs2495591071, rs2495591267, rs754124986, rs777446550, rs2495595027 View all (44 more)	RCV005614535 RCV001783600 RCV003147713 RCV005635383 RCV000000096 View all (60 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs116928232	RCV005892123	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs116928232	RCV005892127	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs116928232	RCV005892126	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wolman disease	Likely pathogenic; Pathogenic	rs2133411859, rs2133411704, rs2133412083, rs2133468040, rs2133411275, rs2133424815, rs760413481, rs1564753490, rs2133413584, rs2133429462, rs776472526, rs771330022, rs2133429569, rs2133427073, rs121965086 View all (57 more)	RCV001376821 RCV001382237 RCV001382238 RCV001380842 RCV003331202 View all (71 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTEROL ESTER STORAGE DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ 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
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE C	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE C1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LIPA (lipase A, lysosomal acid type)