EIF6 (eukaryotic translation initiation factor 6)

Gene

• Entrez ID: 3692
• Gene name: Eukaryotic translation initiation factor 6
• Gene symbol: EIF6
• Synonyms: CAB, EIF3A, ITGB4BP, b(2)gcn, eIF-6, p27(BBP), p27BBP
• Chromosome: 20
• Chromosome location: 20q11.22
• Summary: Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The pro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049555	hsa-miR-92a-3p	CLASH	23622248
MIRT042302	hsa-miR-484	CLASH	23622248
MIRT537793	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT537794	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT537792	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT537791	hsa-miR-573	PAR-CLIP	22012620
MIRT507451	hsa-miR-10a-3p	PAR-CLIP	23446348
MIRT507450	hsa-miR-5700	PAR-CLIP	23446348
MIRT507449	hsa-miR-520a-5p	PAR-CLIP	23446348
MIRT507448	hsa-miR-525-5p	PAR-CLIP	23446348
MIRT507447	hsa-miR-3180-5p	PAR-CLIP	23446348
MIRT450881	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT450880	hsa-miR-3662	PAR-CLIP	22100165
MIRT450879	hsa-miR-548an	PAR-CLIP	22100165
MIRT450878	hsa-miR-1279	PAR-CLIP	22100165
MIRT450877	hsa-miR-5681a	PAR-CLIP	22100165
MIRT450876	hsa-miR-6730-5p	PAR-CLIP	22100165
MIRT450875	hsa-miR-1273e	PAR-CLIP	22100165
MIRT537793	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT537794	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT537792	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT537791	hsa-miR-573	PAR-CLIP	22012620
MIRT507451	hsa-miR-10a-3p	PAR-CLIP	23446348
MIRT507450	hsa-miR-5700	PAR-CLIP	23446348
MIRT507449	hsa-miR-520a-5p	PAR-CLIP	23446348
MIRT507448	hsa-miR-525-5p	PAR-CLIP	23446348
MIRT507447	hsa-miR-3180-5p	PAR-CLIP	23446348
MIRT450881	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT450880	hsa-miR-3662	PAR-CLIP	22100165
MIRT450879	hsa-miR-548an	PAR-CLIP	22100165
MIRT450878	hsa-miR-1279	PAR-CLIP	22100165
MIRT450877	hsa-miR-5681a	PAR-CLIP	22100165
MIRT450876	hsa-miR-6730-5p	PAR-CLIP	22100165
MIRT450875	hsa-miR-1273e	PAR-CLIP	22100165
MIRT959612	hsa-miR-2861	CLIP-seq
MIRT959613	hsa-miR-3157-5p	CLIP-seq
MIRT959614	hsa-miR-342-5p	CLIP-seq
MIRT959615	hsa-miR-3918	CLIP-seq
MIRT959616	hsa-miR-4436a	CLIP-seq
MIRT959617	hsa-miR-4506	CLIP-seq
MIRT959618	hsa-miR-4512	CLIP-seq
MIRT959619	hsa-miR-4530	CLIP-seq
MIRT959620	hsa-miR-4651	CLIP-seq
MIRT959621	hsa-miR-4664-5p	CLIP-seq
MIRT959622	hsa-miR-4691-3p	CLIP-seq
MIRT959623	hsa-miR-4700-3p	CLIP-seq
MIRT959624	hsa-miR-4722-3p	CLIP-seq
MIRT959625	hsa-miR-4763-5p	CLIP-seq
MIRT959626	hsa-miR-608	CLIP-seq
MIRT959627	hsa-miR-922	CLIP-seq
MIRT959628	hsa-miR-129-5p	CLIP-seq
MIRT959629	hsa-miR-3148	CLIP-seq
MIRT959630	hsa-miR-450b-5p	CLIP-seq
MIRT959631	hsa-miR-4645-5p	CLIP-seq
MIRT959632	hsa-miR-4673	CLIP-seq
MIRT959633	hsa-miR-507	CLIP-seq
MIRT959634	hsa-miR-552	CLIP-seq
MIRT959635	hsa-miR-557	CLIP-seq
MIRT1920183	hsa-miR-1	CLIP-seq
MIRT1920184	hsa-miR-1202	CLIP-seq
MIRT1920185	hsa-miR-198	CLIP-seq
MIRT1920186	hsa-miR-206	CLIP-seq
MIRT1920187	hsa-miR-3187-3p	CLIP-seq
MIRT1920188	hsa-miR-3194-5p	CLIP-seq
MIRT1920189	hsa-miR-338-3p	CLIP-seq
MIRT1920190	hsa-miR-3972	CLIP-seq
MIRT1920191	hsa-miR-4434	CLIP-seq
MIRT1920192	hsa-miR-4435	CLIP-seq
MIRT1920193	hsa-miR-4491	CLIP-seq
MIRT1920194	hsa-miR-4516	CLIP-seq
MIRT1920195	hsa-miR-4531	CLIP-seq
MIRT1920196	hsa-miR-455-3p	CLIP-seq
MIRT1920197	hsa-miR-4657	CLIP-seq
MIRT1920198	hsa-miR-4701-5p	CLIP-seq
MIRT959624	hsa-miR-4722-3p	CLIP-seq
MIRT1920199	hsa-miR-548s	CLIP-seq
MIRT1920200	hsa-miR-588	CLIP-seq
MIRT1920201	hsa-miR-613	CLIP-seq
MIRT1920184	hsa-miR-1202	CLIP-seq
MIRT1984261	hsa-miR-2278	CLIP-seq
MIRT1920188	hsa-miR-3194-5p	CLIP-seq
MIRT1984262	hsa-miR-3202	CLIP-seq
MIRT1920190	hsa-miR-3972	CLIP-seq
MIRT1984263	hsa-miR-4533	CLIP-seq
MIRT1984264	hsa-miR-4641	CLIP-seq
MIRT1984265	hsa-miR-657	CLIP-seq
MIRT1984266	hsa-miR-890	CLIP-seq
MIRT1920184	hsa-miR-1202	CLIP-seq
MIRT2219362	hsa-miR-1262	CLIP-seq
MIRT959628	hsa-miR-129-5p	CLIP-seq
MIRT2219363	hsa-miR-1910	CLIP-seq
MIRT1920185	hsa-miR-198	CLIP-seq
MIRT1984261	hsa-miR-2278	CLIP-seq
MIRT959612	hsa-miR-2861	CLIP-seq
MIRT2219364	hsa-miR-296-3p	CLIP-seq
MIRT959629	hsa-miR-3148	CLIP-seq
MIRT959613	hsa-miR-3157-5p	CLIP-seq
MIRT1920187	hsa-miR-3187-3p	CLIP-seq
MIRT1920188	hsa-miR-3194-5p	CLIP-seq
MIRT1984262	hsa-miR-3202	CLIP-seq
MIRT1920189	hsa-miR-338-3p	CLIP-seq
MIRT2219365	hsa-miR-3670	CLIP-seq
MIRT959615	hsa-miR-3918	CLIP-seq
MIRT1920190	hsa-miR-3972	CLIP-seq
MIRT2219366	hsa-miR-4264	CLIP-seq
MIRT1920191	hsa-miR-4434	CLIP-seq
MIRT1920192	hsa-miR-4435	CLIP-seq
MIRT959616	hsa-miR-4436a	CLIP-seq
MIRT959630	hsa-miR-450b-5p	CLIP-seq
MIRT959618	hsa-miR-4512	CLIP-seq
MIRT1920194	hsa-miR-4516	CLIP-seq
MIRT959619	hsa-miR-4530	CLIP-seq
MIRT1920195	hsa-miR-4531	CLIP-seq
MIRT1984263	hsa-miR-4533	CLIP-seq
MIRT1920196	hsa-miR-455-3p	CLIP-seq
MIRT1984264	hsa-miR-4641	CLIP-seq
MIRT959631	hsa-miR-4645-5p	CLIP-seq
MIRT959632	hsa-miR-4673	CLIP-seq
MIRT959622	hsa-miR-4691-3p	CLIP-seq
MIRT959623	hsa-miR-4700-3p	CLIP-seq
MIRT2219367	hsa-miR-4701-3p	CLIP-seq
MIRT1920198	hsa-miR-4701-5p	CLIP-seq
MIRT2219368	hsa-miR-4715-3p	CLIP-seq
MIRT959624	hsa-miR-4722-3p	CLIP-seq
MIRT2219369	hsa-miR-4727-5p	CLIP-seq
MIRT959625	hsa-miR-4763-5p	CLIP-seq
MIRT2219370	hsa-miR-4769-3p	CLIP-seq
MIRT959633	hsa-miR-507	CLIP-seq
MIRT1920199	hsa-miR-548s	CLIP-seq
MIRT959634	hsa-miR-552	CLIP-seq
MIRT959635	hsa-miR-557	CLIP-seq
MIRT1920200	hsa-miR-588	CLIP-seq
MIRT1984265	hsa-miR-657	CLIP-seq
MIRT2219371	hsa-miR-665	CLIP-seq
MIRT1984266	hsa-miR-890	CLIP-seq
MIRT959627	hsa-miR-922	CLIP-seq
MIRT1920183	hsa-miR-1	CLIP-seq
MIRT1920184	hsa-miR-1202	CLIP-seq
MIRT959628	hsa-miR-129-5p	CLIP-seq
MIRT1920185	hsa-miR-198	CLIP-seq
MIRT1920186	hsa-miR-206	CLIP-seq
MIRT1984261	hsa-miR-2278	CLIP-seq
MIRT959612	hsa-miR-2861	CLIP-seq
MIRT959613	hsa-miR-3157-5p	CLIP-seq
MIRT1920187	hsa-miR-3187-3p	CLIP-seq
MIRT1920188	hsa-miR-3194-5p	CLIP-seq
MIRT1984262	hsa-miR-3202	CLIP-seq
MIRT1920189	hsa-miR-338-3p	CLIP-seq
MIRT959615	hsa-miR-3918	CLIP-seq
MIRT1920190	hsa-miR-3972	CLIP-seq
MIRT1920191	hsa-miR-4434	CLIP-seq
MIRT1920192	hsa-miR-4435	CLIP-seq
MIRT959616	hsa-miR-4436a	CLIP-seq
MIRT1920193	hsa-miR-4491	CLIP-seq
MIRT959630	hsa-miR-450b-5p	CLIP-seq
MIRT959618	hsa-miR-4512	CLIP-seq
MIRT1920194	hsa-miR-4516	CLIP-seq
MIRT959619	hsa-miR-4530	CLIP-seq
MIRT1920195	hsa-miR-4531	CLIP-seq
MIRT1984263	hsa-miR-4533	CLIP-seq
MIRT1920196	hsa-miR-455-3p	CLIP-seq
MIRT1984264	hsa-miR-4641	CLIP-seq
MIRT959631	hsa-miR-4645-5p	CLIP-seq
MIRT1920197	hsa-miR-4657	CLIP-seq
MIRT959632	hsa-miR-4673	CLIP-seq
MIRT959622	hsa-miR-4691-3p	CLIP-seq
MIRT959623	hsa-miR-4700-3p	CLIP-seq
MIRT1920198	hsa-miR-4701-5p	CLIP-seq
MIRT2219368	hsa-miR-4715-3p	CLIP-seq
MIRT959624	hsa-miR-4722-3p	CLIP-seq
MIRT959625	hsa-miR-4763-5p	CLIP-seq
MIRT959633	hsa-miR-507	CLIP-seq
MIRT1920199	hsa-miR-548s	CLIP-seq
MIRT959635	hsa-miR-557	CLIP-seq
MIRT1920200	hsa-miR-588	CLIP-seq
MIRT1920201	hsa-miR-613	CLIP-seq
MIRT1984265	hsa-miR-657	CLIP-seq
MIRT2219371	hsa-miR-665	CLIP-seq
MIRT1984266	hsa-miR-890	CLIP-seq
MIRT959627	hsa-miR-922	CLIP-seq
MIRT1920183	hsa-miR-1	CLIP-seq
MIRT1920184	hsa-miR-1202	CLIP-seq
MIRT1920185	hsa-miR-198	CLIP-seq
MIRT1920186	hsa-miR-206	CLIP-seq
MIRT1984261	hsa-miR-2278	CLIP-seq
MIRT959612	hsa-miR-2861	CLIP-seq
MIRT959613	hsa-miR-3157-5p	CLIP-seq
MIRT1920187	hsa-miR-3187-3p	CLIP-seq
MIRT1920188	hsa-miR-3194-5p	CLIP-seq
MIRT1984262	hsa-miR-3202	CLIP-seq
MIRT1920189	hsa-miR-338-3p	CLIP-seq
MIRT959615	hsa-miR-3918	CLIP-seq
MIRT1920190	hsa-miR-3972	CLIP-seq
MIRT1920191	hsa-miR-4434	CLIP-seq
MIRT1920192	hsa-miR-4435	CLIP-seq
MIRT959616	hsa-miR-4436a	CLIP-seq
MIRT1920193	hsa-miR-4491	CLIP-seq
MIRT959618	hsa-miR-4512	CLIP-seq
MIRT1920194	hsa-miR-4516	CLIP-seq
MIRT959619	hsa-miR-4530	CLIP-seq
MIRT1920195	hsa-miR-4531	CLIP-seq
MIRT1984263	hsa-miR-4533	CLIP-seq
MIRT1920196	hsa-miR-455-3p	CLIP-seq
MIRT1984264	hsa-miR-4641	CLIP-seq
MIRT1920197	hsa-miR-4657	CLIP-seq
MIRT959622	hsa-miR-4691-3p	CLIP-seq
MIRT959623	hsa-miR-4700-3p	CLIP-seq
MIRT1920198	hsa-miR-4701-5p	CLIP-seq
MIRT2219368	hsa-miR-4715-3p	CLIP-seq
MIRT959624	hsa-miR-4722-3p	CLIP-seq
MIRT959625	hsa-miR-4763-5p	CLIP-seq
MIRT1920199	hsa-miR-548s	CLIP-seq
MIRT1920200	hsa-miR-588	CLIP-seq
MIRT1920201	hsa-miR-613	CLIP-seq
MIRT1984265	hsa-miR-657	CLIP-seq
MIRT2219371	hsa-miR-665	CLIP-seq
MIRT1984266	hsa-miR-890	CLIP-seq
MIRT959627	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000054	Process	Ribosomal subunit export from nucleus	IBA	21873635
GO:0000460	Process	Maturation of 5.8S rRNA	IBA	21873635
GO:0000470	Process	Maturation of LSU-rRNA	IBA	21873635
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0005515	Function	Protein binding	IPI	17507929, 21665150, 21903422, 22365962, 32296183
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005638	Component	Lamin filament	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	12426392
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006110	Process	Regulation of glycolytic process	ISS
GO:0006413	Process	Translational initiation	IEA
GO:0030687	Component	Preribosome, large subunit precursor	IBA	21873635
GO:0032868	Process	Response to insulin	ISS
GO:0035195	Process	Gene silencing by miRNA	IMP	17507929
GO:0035278	Process	MiRNA mediated inhibition of translation	IMP	17507929
GO:0042256	Process	Mature ribosome assembly	IMP	21536732
GO:0042304	Process	Regulation of fatty acid biosynthetic process	ISS
GO:0043022	Function	Ribosome binding	IDA	21536732
GO:0043023	Function	Ribosomal large subunit binding	IBA	21873635
GO:0045652	Process	Regulation of megakaryocyte differentiation	ISS
GO:0045727	Process	Positive regulation of translation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1902626	Process	Assembly of large subunit precursor of preribosome	IBA	21873635
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	ISS

Other IDs

• MIM: 602912
• HGNC: 6159
• e!Ensembl: ENSG00000242372

Protein

• UniProt ID: P56537
• Protein name: Eukaryotic translation initiation factor 6 (eIF-6) (B(2)GCN homolog) (B4 integrin interactor) (CAB) (p27(BBP))
• Protein function: Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm (PubMed:10085284, PubMed:14654845, PubMed:21536732, PubMed:32669547). Behaves as a stimulatory tra
• PDB: 6LQM, 6LSR, 6LSS, 6LU8, 7OW7, 8A3D, 8FKP, 8FKQ, 8FKR, 8FKS, 8FKT, 8FKU, 8FKV, 8FKW, 8FKX, 8FKY, 8FKZ, 8FL0, 8FL2, 8FL3, 8FL4, 8FL6, 8FL7, 8FL9, 8FLA, 8FLB, 8FLC, 8FLD, 8FLE, 8FLF, 8IDT, 8IDY, 8IE3, 8INE, 8INF, 8INK, 8IPD, 8IPX, 8IPY, 8IR1, 8IR3, 8OHD, 8OJ0, 8OJ8, 8RL2, 9GMO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01912	eIF-6	4 → 204	eIF-6 family	Family

• Sequence:

  MAVRASFENNCEIGCFAKLTNTYCLVAIGGSENFYSVFEGELSDTIPVVHASIAGCRIIG
  RMCVGNRHGLLVPNNTTDQELQHIRNSLPDTVQIRRVEERLSALGNVTTCNDYVALVHPD
  LDRETEEILADVLKVEVFRQTVADQVLVGSYCVFSNQGGLVHPKTSIEDQDELSSLLQVP
  LVAGTVNRGSEVIAAGMVVNDWCAFCGLDTTSTELSVVESVFKLNEAQPSTIATSMRDSL
  IDSLT

• Sequence length: 245

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

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	25151356
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	25151356
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	25151356

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		25151356
Melanosis	Melanosis		20585627