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

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2145366579, rs758902805	RCV001814520 RCV001814078	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Likely pathogenic	rs1057518942	RCV000415070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysosomal storage disease	Pathogenic	rs80358259	RCV006252549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick disease, type C1, adult form	Pathogenic; Likely pathogenic	rs120074130, rs797044431	RCV000003096 RCV000003097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Niemann-Pick disease, type C1, juvenile form	Likely pathogenic; Pathogenic	rs28942106, rs120074131, rs759826138, rs749012588	RCV000003098 RCV000003099 RCV001267680 RCV001267681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Niemann-Pick disease, type C2	Pathogenic	rs773765255	RCV002291523	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1555631571	RCV005901505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sphingomyelin/cholesterol lipidosis	Pathogenic; Likely pathogenic	rs80358259, rs753419933, rs1555634422, rs2059233076	RCV003335012 RCV005627383 RCV001267686 RCV001267685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRAXIA OF PHONATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUCELLOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Capillary hemangioma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATAPLEXY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSARTHRIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, ADULT NEUROLOGIC ONSET	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, JUVENILE NEUROLOGIC ONSET	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, LATE INFANTILE NEUROLOGIC ONSET	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, SEVERE EARLY INFANTILE NEUROLOGIC ONSET	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, SEVERE PERINATAL FORM	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease, type D	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NIEMANN-PICK DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL OPHTHALMOPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	8380056, 9219824		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	25406061		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17183645, 20571217, 31902793	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	18834923		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23382922		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23010472		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30847828, 31302243		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30847828, 31302243		★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxias	Apraxia	Pubtator	32921771	Associate	★☆☆☆☆ Found in Text Mining only
Arylsulfatase A Deficiency	Arylsulfatase A Deficiency	BEFREE	29899471		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	27900365, 32921771, 34535129, 34830064	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	18483620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	26818574		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25546329		★☆☆☆☆ Found in Text Mining only
Branchioma	Branchioma	BEFREE	28413147		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37420029	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	22590638	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	26593963, 9823956		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16556867	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	30200105		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1631151		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35592684, 38042211	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12740922		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23405096		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	Pubtator	30737051	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataplexy	Cataplexy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataplexy	Cataplexy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	35192242	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Diseases	Cerebellar diseases	Pubtator	27599728, 34535129	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29228630		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	39706535	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	25771912		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	28550066	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28775848		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34535129	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	27449137	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18439914, 28407688		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20955564, 26890452		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17458880	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	20955564, 26890452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	20955564, 26890452	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20955564, 26890452		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26953272, 29357083		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35741735	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	25406061		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	27900365, 34830064	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27549128		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	27549128, 27900365	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	20554533	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30307664		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	39746811	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23153210	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21036943, 23153210, 23769925, 29325023		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	28339768		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CTD_human_DG	21273508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	Pubtator	34830064	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia	Dystonia	Pubtator	28830896	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	12516093, 9650553		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	CTD_human_DG	21273508		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	37433892	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21036943		★☆☆☆☆ Found in Text Mining only
Fetal ascites	Fetal ascites	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	22216111		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	24386122		★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	15810076	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gaucher Disease	Gaucher Disease	BEFREE	24035292		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28640146, 30307664		★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	24839095		★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	29463856, 31847086		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	9650553		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10634239		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	27549128	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31628414		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	36648309	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	15238223		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23588626		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29079454		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	30392741		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	20521171	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	BEFREE	31263065		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	29899471		★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	10482798, 17003072, 24839095, 30737051		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	27431206		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	22216111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31392541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	28550066, 37433892	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	28951965		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24664998, 29411332		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33938663	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35082790	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28870086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoproliferative Syndrome, X-Linked, 2	Lymphoproliferative Disorder	BEFREE	26953272		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28640146, 30307664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	25546329		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12740922, 31311932		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	30200105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	28452175		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27449137		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12218080, 31311932		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17023574, 19065653, 19327385, 20461718, 22497278, 24615621, 26283546, 27597634, 29137633, 29185028, 30143421		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37423302	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30307664		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30847828		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29325023		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31628414		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	17023574		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10521297, 12974729, 15459971, 19744920, 20525256, 22572546, 9425535		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	24915861	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17023574		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18946078		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18946078		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	30119649	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10361985, 10482798, 11525744, 12125814, 12594172, 12955717, 14639697, 15022282, 15352039, 15459971, 15465427, 16308470, 16988809, 17129209, 17631520, 18433155, 18591242, 19221469, 19295228, 20412078, 20497909, 20716640, 20718790, 21168531, 21205675, 21272439, 21412152, 21436030, 21550990, 21874234, 22048958, 22174676, 22277650, 22286891, 22300735, 22497278, 22869680, 22935999, 23023945, 23142039, 23281836, 23382922, 23843895, 24076310, 24386122, 24487591, 24664998, 25713067, 25724187, 25873482, 25879824, 26283546, 26908626, 27019000, 28061788, 28082351, 28193631, 28350089, 28784760, 29406968, 29497113, 29659804, 30183109, 30200105, 30209687, 30307664, 30942586, 31022422, 31168437, 31456038, 31535451, 9650553, 9927649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22590638	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15842731, 17599818, 19497133, 20626878, 21400573, 2479554, 27449137, 27597634, 28350089, 28407688, 28423677, 28640146, 2921136, 29333129, 29463274, 29555989, 29912899, 31139018, 9219824		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32204338	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11853852, 22619379, 23023945, 28803710, 29357083, 30143421, 31509197		★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	BEFREE	15465426		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26631535		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20554533, 26890452, 30183109, 32880929	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16785493, 17804599, 23144710, 23521797, 24044630, 24343124, 26890452, 27923633, 28666962, 28841900, 29617956, 30424529, 30872158, 31296176, 31535451, 31601621, 31699992		★☆☆☆☆ Found in Text Mining only
Niemann-Pick disease type C, adult neurologic onset	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, juvenile neurologic onset	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, late infantile neurologic onset	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, severe early infantile neurologic onset	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, severe perinatal form	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Disease, Type A	Niemann-Pick Disease	BEFREE	16143556		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	10361985, 10480349, 10482798, 10942596, 11202175, 11349231, 11479732, 11525744, 11561763, 11567215, 11754101, 11853852, 12125814, 12401890, 12408188, 12554680, 12594172, 12955717, 14639697, 15130691, 15352039, 15459971, 15465427, 15465428, 15465429, 15542393, 15774455, 15937921, 16015597, 16126423, 16778374, 17003072, 17470133, 17631520, 18591242, 18823126, 19007772, 19074461, 19221469, 19223215, 19718781, 20082288, 20412078, 20469965, 20497909, 20718790, 20882348, 21205675, 21412152, 21436030, 21550990, 21757691, 22048958, 22174676, 22277650, 22286891, 22505584, 22526561, 22572546, 22869680, 22872701, 22935999, 23023945, 23142039, 23382922, 23443094, 23521797, 23593041, 23622394, 23701245, 23773996, 23907005, 24025716, 24048860, 24076310, 24386122, 24487591, 24599001, 24664998, 24839095, 24891511, 25131710, 25145893, 25149939, 25713067, 25873482, 25879824, 26027824, 26283546, 26338816, 26908626, 26910362, 27019000, 27339554, 27378690, 27549128, 28061788, 28082351, 28167839, 28193631, 28222799, 28262793, 28332184, 28387450, 28472934, 28628327, 28784760, 28808920, 29397865, 29406968, 29497113, 29659804, 29871644, 29897878, 30066180, 30183109, 30209687, 30285904, 30736449, 30820861, 30866987, 30872158, 30942586, 31168437, 31197681, 31296176, 31352388, 31456038, 31535451, 31543266, 31605022, 31707730, 31847862, 9634529, 9927649, 9990080		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C	Niemann-Pick Disease	CLINVAR_DG	10480349, 10521290, 10521297, 11182931, 11333381, 11349231, 11545687, 11754101, 12955717, 16126423, 17003072, 18216017, 19223215, 19252935, 19744920, 22476655, 22676771, 23430855, 23433426, 23773996, 23821321, 24570279, 25236789, 26830282, 26981555, 9211849		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C	Niemann-Pick Disease	CTD_human_DG	22216111, 9802331		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C	Niemann-Pick Disease	GENOMICS_ENGLAND_DG	23597521		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	CLINVAR_DG	10480349, 10521290, 10521297, 11182931, 11333381, 11349231, 11479732, 11545687, 11754101, 12205649, 12401890, 12408188, 12719428, 12955717, 12974729, 14639697, 15130691, 15347664, 15459971, 15465421, 15774455, 15937921, 16086131, 16098014, 16126423, 16138904, 16778374, 17003072, 17160617, 17989072, 18216017, 19013089, 19206179, 19223215, 19252935, 19307542, 19609713, 19718781, 19744920, 19900398, 20521171, 20525256, 20718790, 20826119, 21245028, 22065762, 22326530, 22476655, 22505584, 22676771, 22704015, 22750297, 23142039, 23146215, 23183285, 23427322, 23430855, 23433426, 23453666, 23593294, 23597521, 23653225, 23773996, 23774949, 23791518, 24001525, 24035292, 24386122, 24506780, 24570279, 24676439, 24767253, 24915861, 25131710, 25149939, 25236789, 25239094, 25326637, 25349751, 25425405, 25637190, 25764212, 26019327, 26108224, 26206375, 26338816, 26666848, 26937389, 26939636, 26981555, 26984608, 27139891, 27193329, 27238017, 27256227, 27366019, 27378690, 27549128, 27581084, 27706244, 27900365, 27928380, 27959697, 28130309, 28155026, 28167839, 28193631, 28222799, 28480683, 28802248, 29100954, 29197565, 30119649, 3378364, 9211849, 9211850, 9634529, 9927649		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	UNIPROT_DG	10480349, 10521290, 10521297, 11182931, 11333381, 11349231, 11479732, 11545687, 11754101, 12401890, 12408188, 12554680, 12955717, 15774455, 16098014, 16126423, 16802107, 27238017, 9211849, 9634529		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	10783261, 10924274, 18668002, 18953351, 19851340, 20489167, 20554533, 21048217, 23010472, 23023945, 23144710, 23653225, 23666527, 23850077, 24839095, 25637190, 26019327, 26338816, 26818574, 26953272, 26986514, 27019000, 27783333, 27798114, 27860245, 27923633, 28134274, 28379564, 28383485, 28414792, 28613987, 28666962, 28803710, 28841900, 28860124, 29223359, 29325023, 29346563, 29463856, 29587349, 29617956, 29956298, 30123067, 30135069, 30172462, 30249300, 30266834, 30392741, 30424529, 30870990, 30888112, 31187454, 31201291, 31254056, 31394590, 31500175, 31509197, 31668555, 31847086		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	GENOMICS_ENGLAND_DG	11754101, 23597521, 24135395, 27604308, 9211849, 9245994		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	CTD_human_DG	22216111, 9802331		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	BEFREE	10924274, 15030792, 15465426, 16645004		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Niemann-Pick Disease, Type D	Sphingomyelinase deficiency	CTD_human_DG	22216111, 9802331		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Niemann-Pick Disease, Type D	Sphingomyelinase deficiency	BEFREE	9634529		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Niemann-Pick Disease, Type D	Sphingomyelinase deficiency	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Niemann-Pick Disease, Type D	Sphingomyelinase deficiency	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	16143556, 23622394, 26790753, 30893855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	19151714, 21036943, 21527513, 22430306, 23153210, 23769925, 23843577, 29325023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	19151714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	19151714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	19151714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20843981, 23153210, 23375129, 23950976, 33139814	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	28452175		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37420029	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27449137		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27449137	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24035292, 24386122, 25099932, 29564810		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24035292	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	24035292	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	24035292		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37445796	Associate	★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	24386122, 27792009		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30119649, 34830064	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sea-Blue Histiocyte Syndrome	Sea-Blue Histiocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	22437840	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21036943		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12218080, 31311932		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	27366019, 30737051, 34535129, 34830064, 35842134, 37433892	Associate	★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	14747463		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	15099022, 19074461		★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	21273508		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	28498820		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	9672634		★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only