CCT5 (chaperonin containing TCP1 subunit 5)

Gene

• Entrez ID: 22948
• Gene name: Chaperonin containing TCP1 subunit 5
• Gene symbol: CCT5
• Synonyms: CCT-epsilon, CCTE, HEL-S-69, HSNSP, PNAS-102, TCP-1-epsilon
• Chromosome: 5
• Chromosome location: 5p15.2
• Summary: The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203986	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs141675330	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022974	hsa-miR-124-3p	Microarray	18668037
MIRT050415	hsa-miR-23a-3p	CLASH	23622248
MIRT038196	hsa-miR-151a-5p	CLASH	23622248
MIRT036657	hsa-miR-935	CLASH	23622248
MIRT035787	hsa-miR-1914-5p	CLASH	23622248
MIRT538618	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT538616	hsa-miR-875-3p	PAR-CLIP	20371350
MIRT538615	hsa-miR-6128	PAR-CLIP	20371350
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT538613	hsa-miR-1299	PAR-CLIP	20371350
MIRT538612	hsa-miR-1231	PAR-CLIP	20371350
MIRT538618	hsa-miR-139-5p	PAR-CLIP	22012620
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	22012620
MIRT538616	hsa-miR-875-3p	PAR-CLIP	22012620
MIRT538615	hsa-miR-6128	PAR-CLIP	22012620
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT538613	hsa-miR-1299	PAR-CLIP	22012620
MIRT538612	hsa-miR-1231	PAR-CLIP	22012620
MIRT538612	hsa-miR-1231	PAR-CLIP	27292025
MIRT538613	hsa-miR-1299	PAR-CLIP	27292025
MIRT538618	hsa-miR-139-5p	PAR-CLIP	27292025
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	27292025
MIRT538615	hsa-miR-6128	PAR-CLIP	27292025
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	27292025
MIRT538616	hsa-miR-875-3p	PAR-CLIP	27292025
MIRT538618	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT538616	hsa-miR-875-3p	PAR-CLIP	20371350
MIRT538615	hsa-miR-6128	PAR-CLIP	20371350
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT538613	hsa-miR-1299	PAR-CLIP	20371350
MIRT538612	hsa-miR-1231	PAR-CLIP	20371350
MIRT538618	hsa-miR-139-5p	PAR-CLIP	22012620
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	22012620
MIRT538616	hsa-miR-875-3p	PAR-CLIP	22012620
MIRT538615	hsa-miR-6128	PAR-CLIP	22012620
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT538613	hsa-miR-1299	PAR-CLIP	22012620
MIRT538612	hsa-miR-1231	PAR-CLIP	22012620
MIRT873444	hsa-miR-103a	CLIP-seq
MIRT873445	hsa-miR-107	CLIP-seq
MIRT873446	hsa-miR-124	CLIP-seq
MIRT873447	hsa-miR-1253	CLIP-seq
MIRT873448	hsa-miR-1254	CLIP-seq
MIRT873449	hsa-miR-1263	CLIP-seq
MIRT873450	hsa-miR-1265	CLIP-seq
MIRT873451	hsa-miR-1273f	CLIP-seq
MIRT873452	hsa-miR-1291	CLIP-seq
MIRT873453	hsa-miR-138	CLIP-seq
MIRT873454	hsa-miR-143	CLIP-seq
MIRT873455	hsa-miR-192	CLIP-seq
MIRT873456	hsa-miR-194	CLIP-seq
MIRT873457	hsa-miR-215	CLIP-seq
MIRT873458	hsa-miR-221	CLIP-seq
MIRT873459	hsa-miR-222	CLIP-seq
MIRT873460	hsa-miR-3116	CLIP-seq
MIRT873461	hsa-miR-3127-3p	CLIP-seq
MIRT873462	hsa-miR-3130-3p	CLIP-seq
MIRT873463	hsa-miR-3157-3p	CLIP-seq
MIRT873464	hsa-miR-3190	CLIP-seq
MIRT873465	hsa-miR-3194-3p	CLIP-seq
MIRT873466	hsa-miR-323-5p	CLIP-seq
MIRT873467	hsa-miR-326	CLIP-seq
MIRT873468	hsa-miR-328	CLIP-seq
MIRT873469	hsa-miR-330-5p	CLIP-seq
MIRT873470	hsa-miR-338-5p	CLIP-seq
MIRT873471	hsa-miR-34b	CLIP-seq
MIRT873472	hsa-miR-3545-3p	CLIP-seq
MIRT873473	hsa-miR-3611	CLIP-seq
MIRT873474	hsa-miR-3646	CLIP-seq
MIRT873475	hsa-miR-3661	CLIP-seq
MIRT873476	hsa-miR-3675-3p	CLIP-seq
MIRT873477	hsa-miR-3681	CLIP-seq
MIRT873478	hsa-miR-3714	CLIP-seq
MIRT873479	hsa-miR-376c	CLIP-seq
MIRT873480	hsa-miR-3910	CLIP-seq
MIRT873481	hsa-miR-3941	CLIP-seq
MIRT873482	hsa-miR-4267	CLIP-seq
MIRT873483	hsa-miR-4275	CLIP-seq
MIRT873484	hsa-miR-4310	CLIP-seq
MIRT873485	hsa-miR-4435	CLIP-seq
MIRT873486	hsa-miR-4456	CLIP-seq
MIRT873487	hsa-miR-4476	CLIP-seq
MIRT873488	hsa-miR-4487	CLIP-seq
MIRT873489	hsa-miR-4494	CLIP-seq
MIRT873490	hsa-miR-4539	CLIP-seq
MIRT873491	hsa-miR-4640-3p	CLIP-seq
MIRT873492	hsa-miR-4640-5p	CLIP-seq
MIRT873493	hsa-miR-466	CLIP-seq
MIRT873494	hsa-miR-4667-5p	CLIP-seq
MIRT873495	hsa-miR-4671-5p	CLIP-seq
MIRT873496	hsa-miR-4672	CLIP-seq
MIRT873497	hsa-miR-4699-5p	CLIP-seq
MIRT873498	hsa-miR-4700-5p	CLIP-seq
MIRT873499	hsa-miR-4708-5p	CLIP-seq
MIRT873500	hsa-miR-4726-5p	CLIP-seq
MIRT873501	hsa-miR-4770	CLIP-seq
MIRT873502	hsa-miR-4793-3p	CLIP-seq
MIRT873503	hsa-miR-4795-5p	CLIP-seq
MIRT873504	hsa-miR-494	CLIP-seq
MIRT873505	hsa-miR-499a-5p	CLIP-seq
MIRT873506	hsa-miR-506	CLIP-seq
MIRT873507	hsa-miR-520d-5p	CLIP-seq
MIRT873508	hsa-miR-524-5p	CLIP-seq
MIRT873509	hsa-miR-548c-3p	CLIP-seq
MIRT873510	hsa-miR-548m	CLIP-seq
MIRT873511	hsa-miR-548v	CLIP-seq
MIRT873512	hsa-miR-556-3p	CLIP-seq
MIRT873513	hsa-miR-577	CLIP-seq
MIRT873514	hsa-miR-615-5p	CLIP-seq
MIRT873515	hsa-miR-631	CLIP-seq
MIRT873516	hsa-miR-637	CLIP-seq
MIRT873517	hsa-miR-661	CLIP-seq
MIRT873518	hsa-miR-7	CLIP-seq
MIRT873519	hsa-miR-876-3p	CLIP-seq
MIRT873458	hsa-miR-221	CLIP-seq
MIRT873459	hsa-miR-222	CLIP-seq
MIRT1959132	hsa-miR-3151	CLIP-seq
MIRT873471	hsa-miR-34b	CLIP-seq
MIRT873477	hsa-miR-3681	CLIP-seq
MIRT873479	hsa-miR-376c	CLIP-seq
MIRT873492	hsa-miR-4640-5p	CLIP-seq
MIRT873500	hsa-miR-4726-5p	CLIP-seq
MIRT873503	hsa-miR-4795-5p	CLIP-seq
MIRT1959133	hsa-miR-513c	CLIP-seq
MIRT1959134	hsa-miR-514b-5p	CLIP-seq
MIRT873511	hsa-miR-548v	CLIP-seq
MIRT1959135	hsa-miR-556-5p	CLIP-seq
MIRT873449	hsa-miR-1263	CLIP-seq
MIRT873451	hsa-miR-1273f	CLIP-seq
MIRT873454	hsa-miR-143	CLIP-seq
MIRT873471	hsa-miR-34b	CLIP-seq
MIRT873481	hsa-miR-3941	CLIP-seq
MIRT2196066	hsa-miR-4451	CLIP-seq
MIRT873491	hsa-miR-4640-3p	CLIP-seq
MIRT873493	hsa-miR-466	CLIP-seq
MIRT873496	hsa-miR-4672	CLIP-seq
MIRT2196067	hsa-miR-4699-3p	CLIP-seq
MIRT873499	hsa-miR-4708-5p	CLIP-seq
MIRT2196068	hsa-miR-4738-3p	CLIP-seq
MIRT873501	hsa-miR-4770	CLIP-seq
MIRT2196069	hsa-miR-4783-3p	CLIP-seq
MIRT873471	hsa-miR-34b	CLIP-seq
MIRT873477	hsa-miR-3681	CLIP-seq
MIRT2196067	hsa-miR-4699-3p	CLIP-seq
MIRT873503	hsa-miR-4795-5p	CLIP-seq
MIRT873447	hsa-miR-1253	CLIP-seq
MIRT873470	hsa-miR-338-5p	CLIP-seq
MIRT2499130	hsa-miR-374c	CLIP-seq
MIRT2499131	hsa-miR-4666-3p	CLIP-seq
MIRT873495	hsa-miR-4671-5p	CLIP-seq
MIRT2196068	hsa-miR-4738-3p	CLIP-seq
MIRT873510	hsa-miR-548m	CLIP-seq
MIRT873513	hsa-miR-577	CLIP-seq
MIRT2499132	hsa-miR-584	CLIP-seq
MIRT2499133	hsa-miR-655	CLIP-seq
MIRT873447	hsa-miR-1253	CLIP-seq
MIRT2677624	hsa-miR-139-3p	CLIP-seq
MIRT2677625	hsa-miR-208a	CLIP-seq
MIRT2677626	hsa-miR-208b	CLIP-seq
MIRT2677627	hsa-miR-23a	CLIP-seq
MIRT2677628	hsa-miR-23b	CLIP-seq
MIRT2677629	hsa-miR-23c	CLIP-seq
MIRT873470	hsa-miR-338-5p	CLIP-seq
MIRT2499130	hsa-miR-374c	CLIP-seq
MIRT2677630	hsa-miR-3925-3p	CLIP-seq
MIRT2677631	hsa-miR-4299	CLIP-seq
MIRT2677632	hsa-miR-4432	CLIP-seq
MIRT2677633	hsa-miR-4463	CLIP-seq
MIRT2499131	hsa-miR-4666-3p	CLIP-seq
MIRT873495	hsa-miR-4671-5p	CLIP-seq
MIRT2677634	hsa-miR-4717-3p	CLIP-seq
MIRT2196068	hsa-miR-4738-3p	CLIP-seq
MIRT2677635	hsa-miR-499-5p	CLIP-seq
MIRT873510	hsa-miR-548m	CLIP-seq
MIRT873513	hsa-miR-577	CLIP-seq
MIRT2499132	hsa-miR-584	CLIP-seq
MIRT2499133	hsa-miR-655	CLIP-seq
MIRT2677636	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003730	Function	MRNA 3'-UTR binding	IDA	16213212
GO:0005515	Function	Protein binding	IPI	14532270, 16189514, 24375412, 25467444, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005813	Component	Centrosome	IDA	20080638
GO:0005829	Component	Cytosol	TAS
GO:0005832	Component	Chaperonin-containing T-complex	IBA	21873635
GO:0005832	Component	Chaperonin-containing T-complex	IDA	23011926, 30955883
GO:0005832	Component	Chaperonin-containing T-complex	TAS	25467444
GO:0005874	Component	Microtubule	IDA	21525035
GO:0006457	Process	Protein folding	IBA	21873635
GO:0006457	Process	Protein folding	IDA	30955883
GO:0006457	Process	Protein folding	TAS
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0031681	Function	G-protein beta-subunit binding	IPI	19376773
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	25467444
GO:0044183	Function	Protein folding chaperone	IDA	30955883
GO:0044297	Component	Cell body	IEA
GO:0048027	Function	MRNA 5'-UTR binding	IDA	16213212
GO:0048487	Function	Beta-tubulin binding	IPI	24375412
GO:0050821	Process	Protein stabilization	IMP	25467444
GO:0051082	Function	Unfolded protein binding	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:1901998	Process	Toxin transport	IEA
GO:1904851	Process	Positive regulation of establishment of protein localization to telomere	IMP	25467444
GO:1904871	Process	Positive regulation of protein localization to Cajal body	HMP	25467444
GO:1904874	Process	Positive regulation of telomerase RNA localization to Cajal body	HMP	25467444

Other IDs

• MIM: 610150
• HGNC: 1618
• e!Ensembl: ENSG00000150753

Protein

• UniProt ID: P48643
• Protein name: T-complex protein 1 subunit epsilon (TCP-1-epsilon) (EC 3.6.1.-) (CCT-epsilon) (Chaperonin containing T-complex polypeptide 1 subunit 5)
• Protein function: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TR
• PDB: 5UYX, 5UYZ, 6NR8, 6NR9, 6NRA, 6NRB, 6NRC, 6NRD, 6QB8, 7LUM, 7LUP, 7NVL, 7NVM, 7NVN, 7NVO, 7TRG, 7TTN, 7TTT, 7TUB, 7WU7, 7WZ3, 7X0A, 7X0S, 7X0V, 7X3J, 7X3U, 7X6Q, 7X7Y, 8AJM, 8AJO, 8HKI, 8I1U, 8I9U, 8IB8, 8SFE, 8SFF, 8SG8, 8SG9, 8SGC, 8SGL, 8SGQ, 8SH9, 8SHA, 8SHD, 8SHE, 8SHF, 8SHG, 8SHL, 8SHN, 8SHO, 8SHP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00118	Cpn60_TCP1	44 → 537	TCP-1/cpn60 chaperonin family	Family

• Sequence:

  MASMGTLAFDEYGRPFLIIKDQDRKSRLMGLEALKSHIMAAKAVANTMRTSLGPNGLDKM
  MVDKDGDVTVTNDGATILSMMDVDHQIAKLMVELSKSQDDEIGDGTTGVVVLAGALLEEA
  EQLLDRGIHPIRIADGYEQAARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTLGSKVVNS
  CHRQMAEIAVNAVLTVADMERRDVDFELIKVEGKVGGRLEDTKLIKGVIVDKDFSHPQMP
  KKVEDAKIAILTCPFEPPKPKTKHKLDVTSVEDYKALQKYEKEKFEEMIQQIKETGANLA
  ICQWGFDDEANHLLLQNNLPAVRWVGGPEIELIAIATGGRIVPRFSELTAEKLGFAGLVQ
  EISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLIRDNRVVY
  GGGAAEISCALAVSQEADKCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRAR
  QVKEMNPALGIDCLHKGTNDMKQQHVIETLIGKKQQISLATQMVRMILKIDDIRKPGESE
  E

• Sequence length: 541

Pathways

Reactome:

Association of TriC/CCT with target proteins during biosynthesis
BBSome-mediated cargo-targeting to cilium
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	17659439
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	17659439
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	17659439
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464

Unknown
Disease name	Disease term	dbSNP ID	References
Atrophy of the spinal cord	Atrophy of the spinal cord
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		17659439
Distal amyotrophy	Distal amyotrophy	rs1457770815
Foot osteomyelitis	Foot osteomyelitis
Hereditary sensory neuropathy with spastic paraplegia	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive, Mutilating hereditary sensory neuropathy with spastic paraplegia		16399879, 25124038, 12874111
Hypocholesterolemia	Hypocholesterolemia
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185