NPC1 (NPC intracellular cholesterol transporter 1)

Gene

• Entrez ID: 4864
• Gene name: NPC intracellular cholesterol transporter 1
• Gene symbol: NPC1
• Synonyms (NCBI Gene): NPC, POGZ, SLC65A1
• Chromosome: 18
• Chromosome location: 18q11.2
• Summary: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1621962	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs7227375	G>A,C	Likely-benign, benign, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs28940897	T>G	Pathogenic	Coding sequence variant, missense variant
rs28942104	G>A	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28942105	T>A,C	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28942106	T>C	Pathogenic	Coding sequence variant, missense variant
rs28942107	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28942108	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs34084984	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs34226296	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant
rs55680026	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs55724504	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant
rs77289650	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs80358252	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80358253	T>G	Pathogenic	Coding sequence variant, missense variant
rs80358254	C>A,G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80358257	G>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs80358258	C>T	Pathogenic	Coding sequence variant, missense variant
rs80358259	A>G	Pathogenic	Coding sequence variant, missense variant
rs113371321	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs120074130	C>T	Pathogenic	Missense variant, coding sequence variant
rs120074131	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs120074132	C>T	Pathogenic	Missense variant, coding sequence variant
rs120074134	A>G	Pathogenic	Missense variant, coding sequence variant
rs120074135	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs120074136	A>G	Pathogenic	Missense variant, coding sequence variant
rs138184115	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139751448	C>T	Pathogenic	Missense variant, coding sequence variant
rs141440861	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143124972	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs145101354	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145145840	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145227129	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs145362908	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147795644	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150334966	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150602021	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151125564	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Synonymous variant, coding sequence variant
rs182413311	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs200444084	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs369098773	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs369368181	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs371076898	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371160947	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372030650	T>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs372445155	G>A	Pathogenic	Missense variant, coding sequence variant
rs372947142	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs375307057	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376213990	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs377130051	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs377515417	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs398123284	->A	Pathogenic	Frameshift variant, coding sequence variant
rs483352879	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs483352880	->G	Pathogenic	Frameshift variant, coding sequence variant
rs483352881	->C	Pathogenic	Frameshift variant, coding sequence variant
rs483352882	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs483352883	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352884	->T	Pathogenic	Coding sequence variant, stop gained
rs483352885	T>A	Pathogenic	Missense variant, coding sequence variant
rs483352886	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs483352887	T>C	Pathogenic	Missense variant, coding sequence variant
rs483352888	A>G	Pathogenic	Missense variant, coding sequence variant
rs483352889	G>A	Pathogenic	Coding sequence variant, stop gained
rs483352890	C>G	Pathogenic	Missense variant, coding sequence variant
rs483352891	C>T	Pathogenic	Missense variant, coding sequence variant
rs483352892	G>C	Pathogenic	Intron variant
rs543206298	G>A	Pathogenic	Missense variant, coding sequence variant
rs550562774	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs746715353	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs748837410	C>T	Pathogenic	Coding sequence variant, missense variant
rs748862167	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs749012588	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs750095738	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs750292546	G>A,C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs750323164	->AAGT	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs751249367	A>C,G	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs751951695	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752409181	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs753419933	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs753768576	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756815030	CT>-	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs756853895	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, splice acceptor variant
rs757475924	C>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs758231839	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs758687942	ACAGAC>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs758829443	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs758902805	G>C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs759075595	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs759826138	G>A	Pathogenic	Stop gained, coding sequence variant
rs761910746	->AA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs762124334	A>-,AA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs764472245	A>C,T	Likely-pathogenic	Splice donor variant
rs764548800	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs765729815	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs768299417	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs768999208	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs770321568	C>G	Uncertain-significance, likely-pathogenic	Intron variant
rs770580241	TTTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771806960	C>A,T	Likely-pathogenic	Splice acceptor variant
rs772150994	->ACC,CAACC,CACC,CCACC,CCCGCC,CCGCC,CCTCC,CGCC,CTCC	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs772565983	C>T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant
rs772898831	A>G	Likely-pathogenic	Splice donor variant
rs773941375	->TC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs774333145	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs774943545	GAGT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs775629081	G>A	Pathogenic	Stop gained, coding sequence variant
rs775915490	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs777286835	G>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs777356809	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778096289	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs778878523	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs780592540	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs781261962	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786200877	C>T	Likely-pathogenic	Splice donor variant
rs786200878	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs786200879	AAGT>-,AAGTAAGT	Pathogenic	Frameshift variant, coding sequence variant
rs786204455	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204512	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs786204586	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204641	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204714	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794727897	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs863224902	->AATA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs876661319	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041356	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886042268	T>C	Pathogenic	Splice acceptor variant
rs886042270	C>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886043131	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043744	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886043871	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044570	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886044580	->TC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs917070773	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs1055204017	C>G,T	Pathogenic-likely-pathogenic	Intron variant
rs1057516260	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516462	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516603	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516647	TCCAAAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516749	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516813	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1057516950	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517005	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1057517077	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517149	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517186	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517194	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517197	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517455	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517978	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518613	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518711	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518942	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519229	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1057519242	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793791	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1064794009	AG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795718	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1131691558	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1160114136	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1169032037	G>A	Pathogenic	Missense variant, coding sequence variant
rs1243863645	TGA>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs1261939149	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1298238512	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1338658857	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555631571	C>A,G,T	Likely-pathogenic	Splice donor variant
rs1555631610	GAATATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631642	TA>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631653	C>G	Likely-pathogenic	Splice acceptor variant
rs1555631888	A>G	Likely-pathogenic	Splice donor variant
rs1555631957	TCAT>AAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631982	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555631998	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555632182	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555632971	CC>AT	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555632977	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555632994	T>G	Likely-pathogenic	Splice acceptor variant
rs1555633118	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555633309	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555633326	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555633361	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555633454	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1555633637	AACA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555634236	CTT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1555634422	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555634508	C>T	Likely-pathogenic	Splice acceptor variant
rs1555634513	T>A	Likely-pathogenic	Splice acceptor variant
rs1555634618	->CCCCCG,CCCCG,CCCCT,CCCG,CCG,CG,CGCCG,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs1555634690	C>T	Likely-pathogenic	Splice donor variant
rs1555635957	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555636659	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1555637139	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555637164	CTGCTGGGGGCTGACCAGAGGTCAACTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555637232	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555637255	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555638409	C>A	Pathogenic	Splice donor variant
rs1555638833	A>G	Likely-pathogenic	Splice donor variant
rs1555641027	->GTAACTCTTTCACATTTGTTTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555641037	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555642296	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555642347	T>A	Likely-pathogenic	Splice acceptor variant
rs1555645630	C>T	Likely-pathogenic	Initiator codon variant, missense variant
rs1567965488	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598942578	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1598954455	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599011473	ACCTCTTGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004540	hsa-miR-33a-5p	Luciferase reporter assay	20466885
MIRT004540	hsa-miR-33a-5p	Luciferase reporter assay	20466885
MIRT004540	hsa-miR-33a-5p	Immunofluorescence, Luciferase reporter assay, Western blot	23547260
MIRT018683	hsa-miR-335-5p	Microarray	18185580
MIRT052499	hsa-let-7a-5p	CLASH	23622248
MIRT1190511	hsa-miR-1200	CLIP-seq
MIRT1190512	hsa-miR-200b	CLIP-seq
MIRT1190513	hsa-miR-200c	CLIP-seq
MIRT1190514	hsa-miR-2115	CLIP-seq
MIRT1190515	hsa-miR-27a	CLIP-seq
MIRT1190516	hsa-miR-27b	CLIP-seq
MIRT1190517	hsa-miR-3691-3p	CLIP-seq
MIRT1190518	hsa-miR-429	CLIP-seq
MIRT1190519	hsa-miR-4324	CLIP-seq
MIRT1190520	hsa-miR-4682	CLIP-seq
MIRT1190521	hsa-miR-513a-5p	CLIP-seq
MIRT1190522	hsa-miR-516a-3p	CLIP-seq
MIRT1190523	hsa-miR-544b	CLIP-seq
MIRT1190511	hsa-miR-1200	CLIP-seq
MIRT2055141	hsa-miR-1914	CLIP-seq
MIRT1190515	hsa-miR-27a	CLIP-seq
MIRT1190516	hsa-miR-27b	CLIP-seq
MIRT2055142	hsa-miR-3192	CLIP-seq
MIRT2055143	hsa-miR-3591-5p	CLIP-seq
MIRT2055144	hsa-miR-4327	CLIP-seq
MIRT2055145	hsa-miR-4434	CLIP-seq
MIRT2055146	hsa-miR-4505	CLIP-seq
MIRT2055147	hsa-miR-4516	CLIP-seq
MIRT2055148	hsa-miR-4709-3p	CLIP-seq
MIRT2055149	hsa-miR-485-5p	CLIP-seq
MIRT1190521	hsa-miR-513a-5p	CLIP-seq
MIRT2055150	hsa-miR-597	CLIP-seq
MIRT2284114	hsa-miR-4797-5p	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2391687	hsa-miR-4265	CLIP-seq
MIRT2391688	hsa-miR-4296	CLIP-seq
MIRT2391689	hsa-miR-4322	CLIP-seq
MIRT2391690	hsa-miR-4648	CLIP-seq
MIRT2391691	hsa-miR-4654	CLIP-seq
MIRT2391692	hsa-miR-4769-5p	CLIP-seq
MIRT2391693	hsa-miR-548c-3p	CLIP-seq
MIRT2391694	hsa-miR-668	CLIP-seq
MIRT2439052	hsa-miR-148a	CLIP-seq
MIRT2439053	hsa-miR-148b	CLIP-seq
MIRT2439054	hsa-miR-152	CLIP-seq
MIRT2439055	hsa-miR-33a	CLIP-seq
MIRT2439056	hsa-miR-33b	CLIP-seq
MIRT2284114	hsa-miR-4797-5p	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2439052	hsa-miR-148a	CLIP-seq
MIRT2439053	hsa-miR-148b	CLIP-seq
MIRT2439054	hsa-miR-152	CLIP-seq
MIRT2439055	hsa-miR-33a	CLIP-seq
MIRT2439056	hsa-miR-33b	CLIP-seq
MIRT2391687	hsa-miR-4265	CLIP-seq
MIRT2391688	hsa-miR-4296	CLIP-seq
MIRT2391689	hsa-miR-4322	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2391693	hsa-miR-548c-3p	CLIP-seq
MIRT2686448	hsa-miR-103a	CLIP-seq
MIRT2686449	hsa-miR-107	CLIP-seq
MIRT2686450	hsa-miR-3065-3p	CLIP-seq
MIRT2686451	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001889	Process	Liver development	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	10521290
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	16757520, 19583955, 20674861, 25285302, 26771495, 27238017, 28336668, 34450201, 34799735
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005635	Component	Nuclear envelope	IDA	12554680
GO:0005635	Component	Nuclear envelope	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005764	Component	Lysosome	TAS	9927649
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	9927649, 28784760
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IMP	27378690
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12554680
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10821832
GO:0005886	Component	Plasma membrane	IEA
GO:0006486	Process	Protein glycosylation	IDA	10821832
GO:0006486	Process	Protein glycosylation	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006914	Process	Autophagy	IGI	19074461
GO:0007041	Process	Lysosomal transport	ISS
GO:0007628	Process	Adult walking behavior	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	ISS
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:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	18772377
GO:0015485	Function	Cholesterol binding	IEA
GO:0015918	Process	Sterol transport	IBA
GO:0015918	Process	Sterol transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10521290
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016242	Process	Negative regulation of macroautophagy	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030299	Process	Intestinal cholesterol absorption	IBA
GO:0030301	Process	Cholesterol transport	IDA	18772377
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	IEA
GO:0031579	Process	Membrane raft organization	IMP	23360953
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IMP	27378690
GO:0031982	Component	Vesicle	IEA
GO:0032365	Process	Intracellular lipid transport	IMP	27378690
GO:0032367	Process	Intracellular cholesterol transport	IMP	9211849, 27238017, 27378690, 28784760
GO:0033344	Process	Cholesterol efflux	IDA	16141411
GO:0033344	Process	Cholesterol efflux	IEA
GO:0038023	Function	Signaling receptor activity	TAS	9211849
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	12719428
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	9211849, 9927649, 28784760
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046718	Process	Symbiont entry into host cell	IMP	21866101, 21866103
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12554680
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071383	Process	Cellular response to steroid hormone stimulus	IEA
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IDA	23360953
GO:0120020	Function	Cholesterol transfer activity	IMP	9927649
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	28336668
GO:2000900	Process	Cyclodextrin metabolic process	IEA

Other IDs

• MIM: 607623
• HGNC: 7897
• e!Ensembl: ENSG00000141458

Protein

• UniProt ID: O15118
• Protein name: NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein)
• Protein function: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:10821832, PubMed:12554680, PubMed:18772377, PubMed:27238017, PubMed:9
• PDB: 3GKH, 3GKI, 3GKJ, 3JD8, 5F18, 5F1B, 5HNS, 5JNX, 5KWY, 5U73, 5U74, 6UOX, 6W5R, 6W5S, 6W5T, 6W5U, 6W5V, 8EUS, 9DZ2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16414	NPC1_N	22 → 267	Niemann-Pick C1 N terminus	Domain
  PF12349	Sterol-sensing	649 → 803	Sterol-sensing domain of SREBP cleavage-activation	Family
  PF02460	Patched	1027 → 1253	Patched family	Family

• Sequence:

  MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ
  ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF
  LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD
  ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC
  QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
  EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF
  ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY
  QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT
  ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP
  VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
  ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG
  ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL
  DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV
  SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA
  IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
  SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD
  NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS
  SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP
  YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG
  VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
  GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS
  CATEERYKGTERERLLNF

• Sequence length: 1278

Pathways

KEGG:

Virion - Ebolavirus, Lyssavirus and Morbillivirus
Lysosome
Cholesterol metabolism

Reactome:

LDL clearance

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2145366579, rs758902805	RCV001814520 RCV001814078
Dystonic disorder	Likely pathogenic	rs1057518942	RCV000415070
Lysosomal storage disease	Pathogenic	rs80358259	RCV006252549
Niemann-Pick disease, type C	Likely pathogenic; Pathogenic	rs2058666849, rs202140203, rs2058753352, rs1346436537, rs2145350930, rs2145485704, rs483352886, rs483352888, rs2058754429, rs201156397, rs144725473, rs1474434210, rs2145351244, rs1194990534, rs543206298, rs369368181, rs28942105, rs80358257, rs80358259, rs80358254, rs120074134, rs786200877, rs28942108, rs786200878, rs120074136, rs786200879, rs766178353, rs757534240, rs758902805, rs200444084, rs786204455, rs143124972, rs786204512, rs139751448, rs372030650, rs2058637844, rs1462754046, rs2511288024, rs377130051, rs770321568, rs745892286, rs759826138, rs2058711926, rs2511176179, rs1393388896, rs2511275485, rs1168944129, rs2511197628, rs80358253, rs80358258, rs2511352190, rs369098773, rs376213990, rs1057517455, rs762124334, rs1057516462, rs759075595, rs757475924, rs1057517978, rs750323164, rs886044580, rs774943545, rs780592540, rs1298238512, rs773941375, rs1428599096, rs753419933, rs746715353, rs1555632003, rs1190383931, rs753768576, rs749012588, rs773767253, rs1261939149, rs1555633697, rs1555635957, rs377515417, rs745777805, rs765729815, rs768299417, rs750292546, rs370721218, rs564631426, rs1555634422, rs2059233076	RCV005408835 RCV005911027 RCV003155446 RCV003226468 RCV001806771 RCV001825048 RCV001804847 RCV004689613 RCV005419323 RCV006262340 RCV004690149 RCV003226501 RCV002266260 RCV002271760 RCV001193400 RCV000610038 RCV003114174 RCV000321958 RCV000587869 RCV000590044 RCV004585982 RCV001193398 RCV004017222 RCV002468957 RCV002509143 RCV003387713 RCV003235730 RCV003230762 RCV001804899 RCV001193399 RCV001201288 RCV000781669 RCV002271441 RCV000588149 RCV000606384 RCV004526937 RCV004587367 RCV003226660 RCV000589541 RCV002222467 RCV003236400 RCV001731564 RCV003331958 RCV004526997 RCV005240831 RCV005419656 RCV005433434 RCV005419686 RCV004700260 RCV004586017 RCV004586149 RCV004525924 RCV002469141 RCV003486822 RCV001731664 RCV001193401 RCV000781671 RCV003486823 RCV005238965 RCV003486851 RCV001260390 RCV000589877 RCV000588008 RCV005418233 RCV001193397 RCV000603315 RCV002509492 RCV003155279 RCV003330892 RCV003230572 RCV005901470 RCV004689840 RCV002307585 RCV001731880 RCV002222596 RCV003479193 RCV005901483 RCV001731877 RCV002222586 RCV001193402 RCV005240469 RCV000825536 RCV000825537 RCV001174732 RCV005236731 RCV005408788 RCV003230656 RCV003230655
Niemann-Pick disease, type C1	Likely pathogenic; Pathogenic	rs2058666849, rs202140203, rs2058711607, rs2058712401, rs2058753352, rs2145381556, rs773765255, rs2145433190, rs1346436537, rs2145526252, rs2145351545, rs2145351616, rs2145357371, rs2145357627, rs1274484561, rs761773567, rs370766410, rs2145370503, rs2145370732, rs2145373524, rs2145433024, rs2145446953, rs746372120, rs2145481013, rs2145527060, rs2145527075, rs2145544570, rs2145552346, rs2145378067, rs2145447716, rs2145455429, rs2145457097, rs1555633697, rs2058753693, rs2145370569, rs2145378239, rs2145485704, rs1567948623, rs773351341, rs1444308532, rs373751051, rs2145350224, rs2145433298, rs2145544950, rs376213990, rs483352883, rs483352885, rs483352886, rs483352879, rs483352887, rs483352888, rs483352889, rs483352890, rs483352882, rs483352881, rs483352884, rs483352880, rs2145366898, rs2145394955, rs2058754429, rs2145456711, rs2145446753, rs745777805, rs2058756032, rs201226297, rs1555631888, rs2145336359, rs1352485089, rs2145447627, rs28942108, rs201156397, rs2058697907, rs2145342749, rs1263493813, rs780175800, rs2145357685, rs2145603843, rs2145394815, rs2145357984, rs2145400078, rs144725473, rs2145552247, rs2145366821, rs2145351287, rs2145447843, rs2145351971, rs1474434210, rs2145447827, rs2511275904, rs2511276304, rs1473909084, rs2145351244, rs2511284054, rs2511262796, rs2511262517, rs2511249901, rs2058813191, rs2511249830, rs2511249838, rs2511240699, rs2145400163, rs2511234937, rs2511234836, rs2511283868, rs2058753286, rs2511230353, rs1454412918, rs2511230156, rs2511218496, rs2511217778, rs2511214670, rs2511214292, rs2511213925, rs2496350900, rs2511283295, rs2511213480, rs2511213406, rs2511213147, rs2511209939, rs761910746, rs2511205378, rs2511204966, rs2145366125, rs2511197570, rs2511282703, rs2511197169, rs2511196440, rs1364421307, rs374526072, rs2511191286, rs2511191252, rs2145351377, rs2511190471, rs2511341428, rs2511189739, rs2511282261, rs2511184214, rs2511183558, rs758902805, rs2511341214, rs2511176123, rs2511341044, rs2511340832, rs2511309549, rs2511309222, rs2511309193, rs1057517077, rs2511303464, rs2511302764, rs2511302777, rs2511302653, rs2511302158, rs2511288653, rs2511288288, rs2511275951, rs2511275309, rs2511262763, rs2511277102, rs1567966452, rs2511341561, rs2511288528, rs2511341154, rs2511235295, rs2511235412, rs2511394914, rs2511357450, rs2511191312, rs2511250025, rs2511230031, rs2511196937, rs779065920, rs1598942578, rs2511197297, rs2511221368, rs750739947, rs2511358085, rs2511221794, rs2511283263, rs2511303175, rs2511309763, rs2511235321, rs2511308451, rs2511262593, rs2511235793, rs2511205258, rs2511210229, rs2511190372, rs2511302863, rs543206298, rs730880963, rs369368181, rs28940897, rs28942105, rs797044431, rs28942106, rs80358257, rs80358259, rs80358254, rs120074134, rs120074135, rs28942107, rs786200877, rs80358252, rs786200878, rs120074136, rs786200879, rs766178353, rs1179995303, rs757534240, rs1040639267, rs766301620, rs2145544354, rs200444084, rs786204455, rs786204586, rs143124972, rs786204714, rs786204641, rs786204512, rs764472245, rs139751448, rs776682510, rs2511221073, rs372030650, rs794727897, rs2058637844, rs2511301664, rs1462754046, rs1363313204, rs2511198096, rs2511191394, rs2511230102, rs2511358068, rs765729815, rs2511234717, rs2511303827, rs2511210153, rs2511340936, rs2511214388, rs2511230006, rs2511276931, rs760004573, rs2511176956, rs2511218341, rs753637056, rs2511197628, rs2511210964, rs2511308216, rs863224902, rs777286835, rs2511357416, rs2511340604, rs2511276986, rs2511340972, rs2511176526, rs2511184326, rs2511262780, rs2511284626, rs876661319, rs2511189114, rs377130051, rs768999208, rs886041356, rs886042268, rs886042270, rs770321568, rs761952957, rs2511213538, rs759826138, rs750095738, rs2511223044, rs2511234988, rs2511196532, rs765652543, rs1567944248, rs2511184148, rs2511197807, rs2511284582, rs2059020261, rs2511176179, rs2058572854, rs1165786597, rs2511196908, rs2511197396, rs2511204987, rs769570326, rs1191346899, rs1338210490, rs2511229476, rs1393388896, rs2511275485, rs756853895, rs977397569, rs2511352133, rs2511240863, rs2511283953, rs2511220896, rs2511302955, rs757477471, rs762646794, rs2511283040, rs1310067072, rs1410351489, rs2511222745, rs2511217914, rs2511210759, rs2511282463, rs2059231880, rs2511176814, rs2511222768, rs1555638409, rs753419933, rs1168944129, rs2511240834, rs2511282212, rs2511358187, rs2511183757, rs752409181, rs775915490, rs1555636659, rs2058572301, rs753768576, rs2511352293, rs2511197777, rs2058707982, rs1444840655, rs2145479494, rs2511222459, rs2511262669, rs1456597696, rs2511210490, rs374068891, rs2511183420, rs1470058408, rs80358253, rs80358258, rs1454083299, rs2511341408, rs1478525243, rs1300893995, rs369098773, rs1057516647, rs1057517149, rs1057517194, rs781261962, rs1057516603, rs550562774, rs1057517197, rs1057517455, rs1057516813, rs1057516950, rs762124334, rs1057516260, rs1057516749, rs1057517186, rs1057516462, rs759075595, rs1057517005, rs778878523, rs1057518613, rs757475924, rs1057517978, rs372445155, rs1057518711, rs917070773, rs1064794009, rs750323164, rs886044580, rs1064795718, rs774333145, rs1555637255, rs1555631982, rs1555632994, rs774943545, rs780592540, rs775629081, rs1298238512, rs1555633454, rs1555631998, rs773941375, rs1555637139, rs1428599096, rs1555637232, rs1555632971, rs1555633361, rs1555631653, rs760935117, rs1555631957, rs746715353, rs1555633309, rs1181604094, rs1555631571, rs758231839, rs1555634513, rs1555634690, rs1555632003, rs1190383931, rs1555632977, rs1555634236, rs1555636712, rs1555637164, rs749012588, rs1555641027, rs770580241, rs1555645630, rs1555633118, rs773767253, rs1555633326, rs1555634422, rs1055204017, rs1555642347, rs1555631610, rs1555631642, rs1555632182, rs771806960, rs1261939149, rs1555634508, rs1555634739, rs1555635957, rs377515417, rs1555638833, rs1555642296, rs751249367, rs1567977251, rs1567965488, rs1598954455, rs772898831, rs768299417, rs750292546, rs1169032037, rs1160114136, rs1599011473, rs2058596611, rs2058574038, rs2058616798, rs2058768195, rs2058769608, rs2058949697, rs2059233403, rs2058678962, rs144973225, rs370721218, rs2059213874, rs776701050, rs2058926540, rs1257362365, rs1405889589, rs2058665849, rs2058572084, rs2058614971, rs2058768417, rs2058928573, rs2058949363, rs2058688995, rs764789542, rs2058690179, rs1278305591, rs2058685029, rs1598937493, rs774602107, rs1446718670, rs2058679233, rs2058687419, rs2058698544, rs2058698654, rs2058754064, rs2058929021, rs2058953311, rs150154006, rs2059018297, rs2059021939, rs754653682, rs2059164609, rs2059164764, rs2059233326, rs564631426, rs1184804915, rs2059038310, rs398123284	RCV001327013 RCV001318487 RCV001332329 RCV005203453 RCV001942044 RCV001358671 RCV001377828 RCV001377547 RCV001377829 RCV001379196 RCV001390316 RCV001384378 RCV001380130 RCV001383983 RCV001389012 RCV001383763 RCV001387073 RCV001380464 RCV001388166 RCV001385787 RCV001382711 RCV001388312 RCV001380115 RCV001387043 RCV001389881 RCV001383912 RCV001384355 RCV001383131 RCV001449976 RCV001580608 RCV001580744 RCV001580746 RCV001786523 RCV001797017 RCV001807957 RCV001823514 RCV003500689 RCV002246541 RCV001988681 RCV001923227 RCV001989546 RCV001989551 RCV002015000 RCV002013524 RCV002048164 RCV001990349 RCV001969112 RCV000119325 RCV000119326 RCV000119327 RCV000119328 RCV000119329 RCV000119330 RCV000119331 RCV000119332 RCV000119333 RCV000119334 RCV000119336 RCV000119338 RCV001953097 RCV001881855 RCV002049074 RCV001935611 RCV001971644 RCV002001321 RCV001892286 RCV001916974 RCV002000176 RCV001993213 RCV002035282 RCV002007189 RCV002024676 RCV002038330 RCV001870804 RCV001939576 RCV001869989 RCV001979490 RCV002037951 RCV001953497 RCV002050898 RCV001913022 RCV001970211 RCV001864018 RCV001896783 RCV001871220 RCV001949535 RCV002019754 RCV001937717 RCV001935139 RCV002049466 RCV002291317 RCV002291318 RCV003774660 RCV003500696 RCV002284060 RCV002284061 RCV002284062 RCV002284063 RCV002284064 RCV002284065 RCV002284066 RCV002284067 RCV002284068 RCV002284069 RCV002284070 RCV002284071 RCV002284072 RCV002284073 RCV002284074 RCV002284075 RCV002284076 RCV002284077 RCV002284078 RCV002284079 RCV002284080 RCV002284081 RCV002284082 RCV002284083 RCV002284084 RCV002284086 RCV002284087 RCV002284088 RCV002284089 RCV002284090 RCV002284091 RCV002284092 RCV002284093 RCV002284094 RCV002284095 RCV002284096 RCV002284097 RCV002284098 RCV002284099 RCV002284100 RCV002284101 RCV002284102 RCV002284103 RCV002284104 RCV002284105 RCV002284106 RCV002284107 RCV002284108 RCV002284109 RCV002284110 RCV002284111 RCV002284112 RCV002284113 RCV002284114 RCV002284115 RCV002284118 RCV002284119 RCV002284120 RCV002284121 RCV002284122 RCV002284123 RCV002284124 RCV002284125 RCV002284126 RCV002284127 RCV002306642 RCV002309648 RCV002309787 RCV002309832 RCV002309927 RCV002309977 RCV002309978 RCV002307909 RCV002308095 RCV002308125 RCV002308159 RCV002308168 RCV002308189 RCV002308191 RCV002308268 RCV002309116 RCV002309136 RCV002309227 RCV002309258 RCV002309476 RCV002306976 RCV002307083 RCV002307131 RCV002307147 RCV002307284 RCV002307302 RCV002310247 RCV002310285 RCV002310379 RCV002310539 RCV002310575 RCV000671618 RCV000158972 RCV001251128 RCV000158970 RCV000003091 RCV000003093 RCV000674121 RCV001056811 RCV000003100 RCV000003101 RCV000003103 RCV000003104 RCV000003105 RCV000003106 RCV000003107 RCV000003108 RCV000003110 RCV000003111 RCV000003112 RCV000003113 RCV002574717 RCV003064502 RCV003050499 RCV003050500 RCV003041330 RCV003064506 RCV000169061 RCV000169602 RCV000169092 RCV000169331 RCV000169010 RCV000169530 RCV000169423 RCV000169199 RCV000169611 RCV000169124 RCV003089602 RCV003074990 RCV000175270 RCV000180120 RCV002617205 RCV002634584 RCV002605692 RCV002726695 RCV002791504 RCV002819844 RCV002810079 RCV002797169 RCV002823923 RCV002843063 RCV002828708 RCV002835014 RCV002843942 RCV002857322 RCV002877011 RCV002852392 RCV002848136 RCV002858421 RCV002877110 RCV002894754 RCV002928093 RCV002952698 RCV002953354 RCV000531610 RCV000666499 RCV003022849 RCV003021667 RCV003031235 RCV003017352 RCV003043727 RCV003047709 RCV003053544 RCV003059199 RCV003066280 RCV003045028 RCV000223886 RCV003135444 RCV001273179 RCV000674176 RCV001386021 RCV000295010 RCV000380677 RCV000670237 RCV003234979 RCV003236706 RCV000279978 RCV000286951 RCV003315271 RCV003337730 RCV003338215 RCV005104328 RCV003486329 RCV003500970 RCV003501142 RCV003501361 RCV003501455 RCV003501729 RCV003501730 RCV003501731 RCV003501732 RCV003501733 RCV003501734 RCV003501735 RCV003501736 RCV003501738 RCV003501739 RCV003501740 RCV003501741 RCV003500035 RCV003500105 RCV003500204 RCV003501986 RCV003500489 RCV003500271 RCV003500399 RCV003501016 RCV003605935 RCV003605952 RCV003605903 RCV003605983 RCV003606111 RCV003606164 RCV003606195 RCV003606162 RCV003606119 RCV003606153 RCV003606221 RCV003606258 RCV003606321 RCV003606438 RCV003605133 RCV003606532 RCV003606583 RCV003605138 RCV003605335 RCV003605185 RCV003605249 RCV003605303 RCV003605278 RCV003605217 RCV003605220 RCV003605321 RCV003605342 RCV003605373 RCV003605430 RCV003605517 RCV003605389 RCV003605405 RCV003606625 RCV003606656 RCV003606675 RCV003606910 RCV003606966 RCV003825754 RCV003837994 RCV003836224 RCV003869028 RCV003877918 RCV003991693 RCV000020226 RCV000020229 RCV000020231 RCV004577142 RCV004577269 RCV004585182 RCV004594867 RCV000412462 RCV000412135 RCV000409812 RCV000410068 RCV000412438 RCV000411615 RCV000410702 RCV000411001 RCV000410469 RCV000412209 RCV000411431 RCV000409528 RCV000408988 RCV000410576 RCV000409772 RCV000411046 RCV000410413 RCV000411904 RCV000410718 RCV000410028 RCV000410714 RCV000412029 RCV000665209 RCV002521443 RCV000667438 RCV000779241 RCV000823177 RCV000415044 RCV000474466 RCV000984201 RCV001061435 RCV000984202 RCV000694249 RCV000670030 RCV000502716 RCV002528256 RCV000556164 RCV000525694 RCV000576310 RCV000665306 RCV001237106 RCV000593107 RCV000591979 RCV000597778 RCV000984200 RCV000815386 RCV000625917 RCV000649023 RCV000649024 RCV000649019 RCV000660448 RCV000675013 RCV000665336 RCV000674434 RCV000666631 RCV000673727 RCV000670900 RCV000668626 RCV000674132 RCV000672250 RCV000673885 RCV000667570 RCV000669985 RCV000671319 RCV000668796 RCV000673110 RCV000669550 RCV000671266 RCV000668027 RCV000673538 RCV000669319 RCV000666284 RCV000665091 RCV000674386 RCV000672528 RCV000670077 RCV000666536 RCV000665907 RCV000673487 RCV000670723 RCV000666985 RCV000668135 RCV000669325 RCV000665968 RCV000667287 RCV000674251 RCV000672155 RCV000668091 RCV000673297 RCV000667939 RCV000669109 RCV000668346 RCV000670704 RCV000673143 RCV000671227 RCV000672404 RCV000665750 RCV000670276 RCV000669650 RCV000673762 RCV000668007 RCV000702851 RCV000685980 RCV000705147 RCV000689227 RCV003605675 RCV000799209 RCV000814344 RCV003605695 RCV001858400 RCV000990076 RCV000990077 RCV000990079 RCV000995590 RCV001171636 RCV001056812 RCV001064156 RCV001045153 RCV001051622 RCV001043430 RCV001068533 RCV001040642 RCV001051600 RCV001040583 RCV001386168 RCV001383764 RCV001198345 RCV001214280 RCV001224198 RCV001205586 RCV001224030 RCV001218147 RCV001232672 RCV001225786 RCV001229283 RCV001229858 RCV001231538 RCV001245828 RCV001248808 RCV001250198 RCV001250197 RCV001250196 RCV001251158 RCV001261652 RCV001264326 RCV001264327 RCV001264328 RCV001264329 RCV001264330 RCV001264331 RCV001264332 RCV001264333 RCV001263759 RCV001263760 RCV001263761 RCV001263762 RCV001263763 RCV001263764 RCV001263765 RCV001263766 RCV001263844 RCV001263845 RCV001263846 RCV001880105 RCV003605754 RCV005606797 RCV001290125 RCV000174669
Niemann-Pick disease, type C1, adult form	Pathogenic; Likely pathogenic	rs120074130, rs797044431	RCV000003096 RCV000003097
Niemann-Pick disease, type C1, juvenile form	Likely pathogenic; Pathogenic	rs28942106, rs120074131, rs759826138, rs749012588	RCV000003098 RCV000003099 RCV001267680 RCV001267681
Niemann-Pick disease, type C2	Pathogenic	rs773765255	RCV002291523
NPC1-related disorder	Pathogenic; Likely pathogenic	rs543206298, rs80358257, rs80358259, rs120074135, rs786200879, rs1179995303, rs786204512, rs372030650, rs770321568, rs765652543, rs80358253, rs376213990, rs760935117, rs1055204017, rs2058637844	RCV003407592 RCV003952339 RCV003964790 RCV004748493 RCV003398426 RCV003418722 RCV003398865 RCV003937576 RCV003391029 RCV003402325 RCV004748530 RCV003409564 RCV003420194 RCV003420185 RCV003399019
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1555631571	RCV005901505
See cases	Likely pathogenic; Pathogenic	rs768999208	RCV002252074
Sphingomyelin/cholesterol lipidosis	Pathogenic; Likely pathogenic	rs80358259, rs753419933, rs1555634422, rs2059233076	RCV003335012 RCV005627383 RCV001267686 RCV001267685

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs11299077	RCV005869447
Adrenocortical carcinoma, hereditary	Benign	rs11299077	RCV005869448
Capillary hemangioma	Uncertain significance	rs933640981	RCV001007937
Cervical cancer	Benign; Uncertain significance	rs73392118, rs150053420, rs200291759	RCV005919487 RCV005895175 RCV005897252
Cholangiocarcinoma	Benign	rs3745023	RCV005921454
Colon adenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs114073738, rs760529810, rs11299077	RCV005895708 RCV005869307 RCV005870688
Colorectal cancer	Benign	rs11299077	RCV005870691
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	rs748412408, rs182413311, rs11299077	RCV005931423 RCV005894737 RCV005869446 RCV005870687
Gastric cancer	Benign	rs3745023, rs11299077	RCV005921452 RCV005869450
Intellectual disability	Uncertain significance	rs201118975, rs762226042	RCV005626546 RCV005625511
Lung cancer	Benign; Likely benign	rs114073738	RCV005895709
Lymphoma	Benign	rs11299077	RCV005869451
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs182413311, rs11299077, rs145666943, rs200291759	RCV005894739 RCV005870689 RCV005901876 RCV005897251
Melanoma	Conflicting classifications of pathogenicity	rs145666943	RCV005901877
Nasopharyngeal carcinoma	Conflicting classifications of pathogenicity	rs80358251	RCV003638614
Niemann-Pick disease, type D	Conflicting classifications of pathogenicity	rs80358254	RCV000003094
Nonpapillary renal cell carcinoma	Benign	rs11299077	RCV005870690
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	rs182413311	RCV005894738
Russell-Silver syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs754323286, rs764991360	RCV005626490 RCV005626549
Sarcoma	Likely benign; Benign	rs140270424, rs3745023	RCV005916356 RCV005921451
Thymoma	Likely benign; Benign	rs140270424, rs3745023	RCV005916358 RCV005921453
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs112570895, rs11299077, rs114073738, rs71534236	RCV005917430 RCV005869207 RCV005895710 RCV005869452 RCV005898603
Uveal melanoma	Benign	rs11299077	RCV005869449

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	28640357
Alzheimer Disease	Associate	17183645, 20571217, 31902793
Apraxias	Associate	32921771
Ataxia	Associate	27900365, 32921771, 34535129, 34830064
Breast Neoplasms	Associate	37420029
Burkitt Lymphoma	Associate	22590638
Calcinosis	Associate	16556867
Carcinoma Hepatocellular	Associate	35592684, 38042211
Cataplexy	Associate	30737051
Cerebellar Ataxia	Associate	35192242
Cerebellar Diseases	Associate	27599728, 34535129
Cerebrovascular Disorders	Associate	39706535
Cholestasis	Associate	28550066
Cognition Disorders	Associate	34535129
Colonic Diseases	Associate	27449137
Communicable Diseases	Associate	35850050
Coronary Artery Disease	Associate	17458880
Coronary Disease	Associate	20955564, 26890452
Crohn Disease	Associate	35741735
Death	Associate	30183109
Deglutition Disorders	Associate	27900365, 34830064
Dementia	Associate	27549128, 27900365
Demyelinating Diseases	Associate	20554533
Diabetes Gestational	Inhibit	39746811
Diabetes Mellitus Type 2	Associate	23153210
Disease	Associate	11333381
Dykes Markes Harper syndrome	Associate	34830064
Dysarthria	Associate	34830064
Dystonia	Associate	28830896
Eye Abnormalities	Associate	37433892
Gallstones	Associate	15810076
Genetic Diseases Inborn	Associate	30183109
Gliosis	Associate	31902793
Hemorrhagic Fever Ebola	Associate	27238017
Heredodegenerative Disorders Nervous System	Associate	10521297
Hydrops Fetalis	Associate	27549128
Hyperlipoproteinemia Type II	Associate	36648309
Infant Newborn Diseases	Associate	28550066, 34697279
Infections	Associate	33947371
Insulin Resistance	Associate	20521171
Intestinal Pseudo Obstruction	Associate	32931663
Jaundice	Associate	24915861
Jaundice Obstructive	Associate	34535129
Liver Failure	Associate	28550066, 37433892
Lung Diseases	Associate	33938663
Lung Neoplasms	Associate	35082790
Lysosomal Storage Diseases	Associate	25479233, 37423302, 39518914, 39596250
Melanoma	Associate	37423302
Movement Disorders	Associate	24915861
Muscle Spasticity	Associate	27900365
Narcolepsy	Associate	30119649
Nasopharyngeal Carcinoma	Associate	22590638
Neoplasms	Associate	27449137, 35850050, 37420029, 38042211
Neoplasms	Inhibit	35850050
Nervous System Diseases	Associate	32204338
Neurodegenerative Diseases	Associate	20554533, 26890452, 30183109, 32880929
Neurologic Manifestations	Associate	28550066, 30737051, 32921771, 34830064
Neuronal Ceroid Lipofuscinoses	Associate	37245481
Niemann Pick Disease Type A	Associate	27599728
Niemann Pick Disease Type C	Associate	10521297, 11333381, 11349231, 11567215, 12401890, 12606053, 12719428, 15774455, 16138904, 16778374, 17183645, 19474101, 20521171, 21436030, 22505584, 22676771, 23144769, 23433426, 23773996, 24035292, 24386122, 24676439, 24907126, 24915861, 24936472, 25131710, 25236789, 25479233, 25637190, 25764212, 25873482, 26666848, 26890452, 27238017, 27250337, 27366019, 27549128, 27599728, 27900365, 28193631, 28222799, 28472934, 28550066, 28784760, 28802248, 28830896, 28860124, 29659804, 29871644, 30119649, 30183109, 30188717, 30737051, 31754021, 32114296, 32204338, 32371106, 32482919, 32880929, 32921771, 32931663, 32993765, 33099109, 33139814, 33257258, 33311479, 33315900, 33924575, 33938663, 33958742, 33990640, 34035463, 34304992, 34535129, 34697279, 34799641, 34830064, 35086560, 35159129, 35192242, 35417398, 35741735, 35850050, 37245481, 37423302, 37433892, 37958627, 39277702, 39596250, 39706535, 39789920, 9634529
Niemann Pick Disease Type C	Inhibit	34830064
Niemann Pick Diseases	Associate	10662671, 9634529
Obesity	Associate	20843981, 23153210, 23375129, 23950976, 33139814
Ovarian Neoplasms	Associate	37420029
Pancreatic Neoplasms	Associate	27449137
Parkinson Disease	Associate	24035292
Parkinson Disease Secondary	Associate	24035292
Pigmentation Disorders	Associate	37423302
Pneumonia Aspiration	Associate	27900365
Polycystic Ovary Syndrome	Associate	37445796
Pyruvate Carboxylase Deficiency Disease	Associate	35159129
Schizophrenia	Associate	30119649, 34830064
Skin Manifestations	Associate	34535129
Sleep Deprivation	Associate	22437840
Speech Disorders	Associate	32921771
Supranuclear Palsy Progressive	Associate	27366019, 30737051, 34535129, 34830064, 35842134, 37433892
Tangier Disease	Associate	14747463
Wells syndrome	Associate	34830064