NPC2 (NPC intracellular cholesterol transporter 2)

Gene

• Entrez ID: 10577
• Gene name: NPC intracellular cholesterol transporter 2
• Gene symbol: NPC2
• Synonyms: EDDM1, HE1
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disea

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11694	A>G	Pathogenic	Coding sequence variant, missense variant
rs80358261	C>T	Pathogenic	Missense variant, coding sequence variant
rs80358262	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs80358263	G>T	Pathogenic	Stop gained, coding sequence variant
rs80358264	A>G	Pathogenic	Missense variant, coding sequence variant
rs80358266	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs80358268	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs104894458	G>A	Pathogenic	Missense variant, coding sequence variant
rs151220873	C>T	Benign, benign-likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs1555345873	TCTA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049322	hsa-miR-92a-3p	CLASH	23622248
MIRT1190538	hsa-miR-2053	CLIP-seq
MIRT1190539	hsa-miR-302a	CLIP-seq
MIRT1190540	hsa-miR-302b	CLIP-seq
MIRT1190541	hsa-miR-302c	CLIP-seq
MIRT1190542	hsa-miR-302d	CLIP-seq
MIRT1190543	hsa-miR-302e	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT1190546	hsa-miR-372	CLIP-seq
MIRT1190547	hsa-miR-373	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT1190549	hsa-miR-409-3p	CLIP-seq
MIRT1190550	hsa-miR-4272	CLIP-seq
MIRT1190551	hsa-miR-4686	CLIP-seq
MIRT1190552	hsa-miR-4717-5p	CLIP-seq
MIRT1190553	hsa-miR-512-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT1190555	hsa-miR-520a-3p	CLIP-seq
MIRT1190556	hsa-miR-520b	CLIP-seq
MIRT1190557	hsa-miR-520c-3p	CLIP-seq
MIRT1190558	hsa-miR-520d-3p	CLIP-seq
MIRT1190559	hsa-miR-520e	CLIP-seq
MIRT1190560	hsa-miR-569	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055168	hsa-miR-127-5p	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2284116	hsa-miR-1203	CLIP-seq
MIRT2284117	hsa-miR-1208	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2284118	hsa-miR-3617	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2284119	hsa-miR-3670	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2284120	hsa-miR-4311	CLIP-seq
MIRT2284121	hsa-miR-4328	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2284122	hsa-miR-4691-3p	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2284123	hsa-miR-501-3p	CLIP-seq
MIRT2284124	hsa-miR-502-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2284125	hsa-miR-589	CLIP-seq
MIRT2284126	hsa-miR-641	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2284116	hsa-miR-1203	CLIP-seq
MIRT2582200	hsa-miR-146a	CLIP-seq
MIRT2582201	hsa-miR-146b-5p	CLIP-seq
MIRT2582202	hsa-miR-1827	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT2582203	hsa-miR-221	CLIP-seq
MIRT2582204	hsa-miR-222	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2284118	hsa-miR-3617	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2582205	hsa-miR-3663-3p	CLIP-seq
MIRT2284119	hsa-miR-3670	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT1190549	hsa-miR-409-3p	CLIP-seq
MIRT2582206	hsa-miR-4251	CLIP-seq
MIRT1190550	hsa-miR-4272	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2284120	hsa-miR-4311	CLIP-seq
MIRT2284121	hsa-miR-4328	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2284122	hsa-miR-4691-3p	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT1190552	hsa-miR-4717-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2582207	hsa-miR-4797-5p	CLIP-seq
MIRT2284123	hsa-miR-501-3p	CLIP-seq
MIRT2284124	hsa-miR-502-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT2582208	hsa-miR-544	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT2582209	hsa-miR-548v	CLIP-seq
MIRT1190560	hsa-miR-569	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2284125	hsa-miR-589	CLIP-seq
MIRT2284126	hsa-miR-641	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2582210	hsa-miR-95	CLIP-seq
MIRT2284116	hsa-miR-1203	CLIP-seq
MIRT2686452	hsa-miR-1243	CLIP-seq
MIRT2686453	hsa-miR-1270	CLIP-seq
MIRT2582200	hsa-miR-146a	CLIP-seq
MIRT2582201	hsa-miR-146b-5p	CLIP-seq
MIRT2582202	hsa-miR-1827	CLIP-seq
MIRT2686454	hsa-miR-185	CLIP-seq
MIRT1190538	hsa-miR-2053	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT2582203	hsa-miR-221	CLIP-seq
MIRT2582204	hsa-miR-222	CLIP-seq
MIRT2686455	hsa-miR-224	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2686456	hsa-miR-34b	CLIP-seq
MIRT2284118	hsa-miR-3617	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2582205	hsa-miR-3663-3p	CLIP-seq
MIRT2284119	hsa-miR-3670	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT1190549	hsa-miR-409-3p	CLIP-seq
MIRT2582206	hsa-miR-4251	CLIP-seq
MIRT1190550	hsa-miR-4272	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2686457	hsa-miR-4306	CLIP-seq
MIRT2284120	hsa-miR-4311	CLIP-seq
MIRT2284121	hsa-miR-4328	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2686458	hsa-miR-4531	CLIP-seq
MIRT2686459	hsa-miR-4644	CLIP-seq
MIRT2284122	hsa-miR-4691-3p	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT1190552	hsa-miR-4717-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2582207	hsa-miR-4797-5p	CLIP-seq
MIRT2284123	hsa-miR-501-3p	CLIP-seq
MIRT2284124	hsa-miR-502-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT2582208	hsa-miR-544	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT2582209	hsa-miR-548v	CLIP-seq
MIRT1190560	hsa-miR-569	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2284125	hsa-miR-589	CLIP-seq
MIRT2686460	hsa-miR-620	CLIP-seq
MIRT2284126	hsa-miR-641	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2582210	hsa-miR-95	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19664597, 20674861, 22095670, 27238017, 27940359
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IMP	15937921
GO:0005764	Component	Lysosome	IDA	11125141, 15937921
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0015485	Function	Cholesterol binding	IDA	17018531, 18772377, 27238017
GO:0015914	Process	Phospholipid transport	TAS	17018531
GO:0015918	Process	Sterol transport	IBA	21873635
GO:0019747	Process	Regulation of isoprenoid metabolic process	TAS	15110773
GO:0019899	Function	Enzyme binding	IPI	15110773
GO:0030301	Process	Cholesterol transport	IDA	17018531, 18772377
GO:0032366	Process	Intracellular sterol transport	IDA	17018531
GO:0032367	Process	Intracellular cholesterol transport	IBA	21873635
GO:0032367	Process	Intracellular cholesterol transport	IDA	17018531, 18823126
GO:0032367	Process	Intracellular cholesterol transport	IGI	19723497
GO:0032367	Process	Intracellular cholesterol transport	IMP	15937921, 27238017
GO:0032934	Function	Sterol binding	IBA	21873635
GO:0033344	Process	Cholesterol efflux	IBA	21873635
GO:0033344	Process	Cholesterol efflux	IDA	16141411
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042632	Process	Cholesterol homeostasis	IDA	12719428
GO:0042632	Process	Cholesterol homeostasis	IMP	15937921
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0046836	Process	Glycolipid transport	TAS	17018531
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IDA	18772377, 27238017

Other IDs

• MIM: 601015
• HGNC: 14537
• e!Ensembl: ENSG00000119655

Protein

• UniProt ID: P61916
• Protein name: NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1) (Human epididymis-specific protein 1) (He1) (Niemann-Pick disease type C2 protein)
• Protein function: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:11125141, PubMed:15937921, PubMed:17018531, PubMed:18772377, PubMed:29580834).
• PDB: 5KWY, 6W5V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02221	E1_DerP2_DerF2	21 → 147	ML domain	Domain

• Sequence:

  MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVT
  FTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYP
  SIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL

• Sequence length: 151

Pathways

KEGG:

Lysosome
Cholesterol metabolism

Reactome:

Neutrophil degranulation
LDL clearance

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Niemann-pick disease	Niemann-Pick Disease, Type C, NIEMANN-PICK DISEASE, TYPE C2, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset	rs28942105, rs120074130, rs797044431, rs28942106, rs120074131, rs80358257, rs80358259, rs80358254, rs120074134, rs786200877, rs28942108, rs786200878, rs120074136, rs786200879, rs120074117, rs120074119, rs267607073, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs267607074, rs80358260, rs80358268, rs80358266, rs11694, rs104894457, rs104894458, rs80358253, rs80358258, rs80358262, rs80358263, rs80358267, rs80358264, rs80358265, rs398123474, rs398123476, rs182812968, rs398123478, rs398123479, rs281860677, rs587779408, rs483352886, rs483352888, rs483352893, rs727504166, rs727504165, rs727504167, rs543206298, rs369368181, rs786204506, rs786204733, rs786204694, rs786204514, rs753508874, rs370129081, rs758902805, rs200444084, rs786204455, rs143124972, rs786204512, rs139751448, rs372030650, rs794727252, rs120074118, rs769904764, rs797044797, rs747143343, rs875989833, rs875989835, rs875989832, rs875989837, rs875989834, rs771336819, rs879253740, rs377130051, rs770321568, rs886043098, rs759826138, rs1057516949, rs1057516722, rs1057517098, rs1057516931, rs868423827, rs1057517086, rs1057517195, rs748165078, rs989639224, rs120074122, rs750779804, rs1057517345, rs1057516432, rs1057516454, rs1057517390, rs1057516854, rs1057517200, rs943924098, rs373940701, rs1057516403, rs369098773, rs376213990, rs1057517455, rs762124334, rs1057516462, rs759075595, rs1057517826, rs757475924, rs1057517978, rs1554935254, rs750323164, rs886044580, rs1554935136, rs774943545, rs780592540, rs1342372980, rs756366019, rs773941375, rs1554934193, rs1428599096, rs1225462507, rs1554934212, rs1554934309, rs764317969, rs1554935555, rs1554935600, rs1554935610, rs281860663, rs1428487333, rs1554933746, rs750157176, rs1422720020, rs1554935273, rs1554935669, rs751269562, rs757934797, rs1554935439, rs756031857, rs1554935746, rs1205990349, rs1554933751, rs1554933780, rs1554934210, rs1423504237, rs1554934406, rs1554935285, rs1437508852, rs1555345616, rs1555346368, rs777654308, rs1555345873, rs1555346369, rs753419933, rs746715353, rs1555632003, rs753768576, rs202140203, rs749012588, rs1261939149, rs1555635957, rs377515417, rs794727629, rs745777805, rs765729815, rs770962157, rs1564923612, rs759389193, rs201550531, rs281860665, rs767899043, rs768299417, rs750292546, rs1590735238, rs1590735307, rs781535659, rs1590739350, rs1018556947, rs752148586, rs1470998208, rs755160837, rs779528546, rs748411156, rs1848015403, rs1319643225, rs2086689501	17470133, 11567215, 12955717, 23433426, 25236789, 11125141, 12955717, 12447927, 22073306, 16126423, 11567215, 11125141, 17470133, 21084287, 23433426, 15937921, 16757520, 25772320, 11333381, 25038260, 28105569, 27604308, 18772377

Unknown
Disease name	Disease term	dbSNP ID	References
Alveolar proteinosis	Pulmonary Alveolar Proteinosis
Cataplexy	Cataplexy
Dementia	Dementia
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Fetal ascites	Fetal ascites
Psychosis	Psychotic Disorders
Respiratory failure	Respiratory Failure
Sea-blue histiocytosis	Sea-Blue Histiocyte Syndrome
Stereotyped behavior	Stereotyped Behavior
Supranuclear gaze palsy	Vertical supranuclear gaze palsy