ESRRA (estrogen related receptor alpha)

Gene

• Entrez ID: 2101
• Gene name: Estrogen related receptor alpha
• Gene symbol: ESRRA
• Synonyms: ERR1, ERRa, ERRalpha, ESRL1, NR3B1
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006957	hsa-miR-137	Luciferase reporter assay	22723937
MIRT006957	hsa-miR-137	Luciferase reporter assay	22723937
MIRT016687	hsa-miR-423-3p	Sequencing	20371350
MIRT020579	hsa-miR-155-5p	Proteomics	18668040
MIRT028410	hsa-miR-30a-5p	Proteomics	18668040
MIRT039942	hsa-miR-615-3p	CLASH	23622248
MIRT437906	hsa-miR-125a-5p	Luciferase reporter assay, Western blot	25266720
MIRT732379	hsa-miR-135a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27227989
MIRT732379	hsa-miR-135a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27227989
MIRT970988	hsa-miR-103a	CLIP-seq
MIRT970989	hsa-miR-107	CLIP-seq
MIRT970990	hsa-miR-125b	CLIP-seq
MIRT970991	hsa-miR-1301	CLIP-seq
MIRT970992	hsa-miR-135a	CLIP-seq
MIRT970993	hsa-miR-135b	CLIP-seq
MIRT970994	hsa-miR-1470	CLIP-seq
MIRT970995	hsa-miR-15a	CLIP-seq
MIRT970996	hsa-miR-15b	CLIP-seq
MIRT970997	hsa-miR-16	CLIP-seq
MIRT970998	hsa-miR-195	CLIP-seq
MIRT970999	hsa-miR-1973	CLIP-seq
MIRT971000	hsa-miR-3117-5p	CLIP-seq
MIRT971001	hsa-miR-3127-3p	CLIP-seq
MIRT971002	hsa-miR-3159	CLIP-seq
MIRT971003	hsa-miR-3176	CLIP-seq
MIRT971004	hsa-miR-3192	CLIP-seq
MIRT971005	hsa-miR-323-3p	CLIP-seq
MIRT971006	hsa-miR-324-5p	CLIP-seq
MIRT971007	hsa-miR-365	CLIP-seq
MIRT971008	hsa-miR-3922-3p	CLIP-seq
MIRT971009	hsa-miR-3922-5p	CLIP-seq
MIRT971010	hsa-miR-3943	CLIP-seq
MIRT971011	hsa-miR-3944-5p	CLIP-seq
MIRT971012	hsa-miR-3977	CLIP-seq
MIRT971013	hsa-miR-424	CLIP-seq
MIRT971014	hsa-miR-4267	CLIP-seq
MIRT971015	hsa-miR-4313	CLIP-seq
MIRT971016	hsa-miR-4319	CLIP-seq
MIRT971017	hsa-miR-4324	CLIP-seq
MIRT971018	hsa-miR-4464	CLIP-seq
MIRT971019	hsa-miR-4503	CLIP-seq
MIRT971020	hsa-miR-4522	CLIP-seq
MIRT971021	hsa-miR-4667-3p	CLIP-seq
MIRT971022	hsa-miR-4708-3p	CLIP-seq
MIRT971023	hsa-miR-4727-5p	CLIP-seq
MIRT971024	hsa-miR-4732-3p	CLIP-seq
MIRT971025	hsa-miR-4748	CLIP-seq
MIRT971026	hsa-miR-4753-3p	CLIP-seq
MIRT971027	hsa-miR-4757-5p	CLIP-seq
MIRT971028	hsa-miR-4768-5p	CLIP-seq
MIRT971029	hsa-miR-4798-5p	CLIP-seq
MIRT971030	hsa-miR-497	CLIP-seq
MIRT971031	hsa-miR-5047	CLIP-seq
MIRT971032	hsa-miR-532-3p	CLIP-seq
MIRT971033	hsa-miR-544	CLIP-seq
MIRT971034	hsa-miR-545	CLIP-seq
MIRT971035	hsa-miR-548p	CLIP-seq
MIRT971036	hsa-miR-642a	CLIP-seq
MIRT971037	hsa-miR-662	CLIP-seq
MIRT971038	hsa-miR-670	CLIP-seq
MIRT1987664	hsa-miR-1202	CLIP-seq
MIRT970990	hsa-miR-125b	CLIP-seq
MIRT1987665	hsa-miR-1291	CLIP-seq
MIRT970994	hsa-miR-1470	CLIP-seq
MIRT1987666	hsa-miR-214	CLIP-seq
MIRT1987667	hsa-miR-2861	CLIP-seq
MIRT971001	hsa-miR-3127-3p	CLIP-seq
MIRT1987668	hsa-miR-3150b-3p	CLIP-seq
MIRT1987669	hsa-miR-3173-5p	CLIP-seq
MIRT1987670	hsa-miR-3194-5p	CLIP-seq
MIRT1987671	hsa-miR-3198	CLIP-seq
MIRT1987672	hsa-miR-326	CLIP-seq
MIRT1987673	hsa-miR-330-5p	CLIP-seq
MIRT1987674	hsa-miR-3619-5p	CLIP-seq
MIRT1987675	hsa-miR-3688-5p	CLIP-seq
MIRT1987676	hsa-miR-3972	CLIP-seq
MIRT971014	hsa-miR-4267	CLIP-seq
MIRT1987677	hsa-miR-4309	CLIP-seq
MIRT971015	hsa-miR-4313	CLIP-seq
MIRT971016	hsa-miR-4319	CLIP-seq
MIRT971017	hsa-miR-4324	CLIP-seq
MIRT971018	hsa-miR-4464	CLIP-seq
MIRT1987678	hsa-miR-4530	CLIP-seq
MIRT1987679	hsa-miR-4640-3p	CLIP-seq
MIRT971021	hsa-miR-4667-3p	CLIP-seq
MIRT1987680	hsa-miR-4690-5p	CLIP-seq
MIRT1987681	hsa-miR-4695-5p	CLIP-seq
MIRT1987682	hsa-miR-4722-3p	CLIP-seq
MIRT971024	hsa-miR-4732-3p	CLIP-seq
MIRT971025	hsa-miR-4748	CLIP-seq
MIRT1987683	hsa-miR-4784	CLIP-seq
MIRT971036	hsa-miR-642a	CLIP-seq
MIRT971038	hsa-miR-670	CLIP-seq
MIRT1987684	hsa-miR-761	CLIP-seq
MIRT1987685	hsa-miR-765	CLIP-seq
MIRT970988	hsa-miR-103a	CLIP-seq
MIRT970989	hsa-miR-107	CLIP-seq
MIRT2222082	hsa-miR-1272	CLIP-seq
MIRT2222083	hsa-miR-1285	CLIP-seq
MIRT1987665	hsa-miR-1291	CLIP-seq
MIRT970991	hsa-miR-1301	CLIP-seq
MIRT970992	hsa-miR-135a	CLIP-seq
MIRT970993	hsa-miR-135b	CLIP-seq
MIRT2222084	hsa-miR-1915	CLIP-seq
MIRT1987667	hsa-miR-2861	CLIP-seq
MIRT2222085	hsa-miR-296-5p	CLIP-seq
MIRT971000	hsa-miR-3117-5p	CLIP-seq
MIRT2222086	hsa-miR-3121-3p	CLIP-seq
MIRT2222087	hsa-miR-3121-5p	CLIP-seq
MIRT2222088	hsa-miR-3179	CLIP-seq
MIRT2222089	hsa-miR-3187-5p	CLIP-seq
MIRT2222090	hsa-miR-3189-5p	CLIP-seq
MIRT1987671	hsa-miR-3198	CLIP-seq
MIRT971005	hsa-miR-323-3p	CLIP-seq
MIRT971006	hsa-miR-324-5p	CLIP-seq
MIRT1987672	hsa-miR-326	CLIP-seq
MIRT1987673	hsa-miR-330-5p	CLIP-seq
MIRT2222091	hsa-miR-3622b-5p	CLIP-seq
MIRT971007	hsa-miR-365	CLIP-seq
MIRT2222092	hsa-miR-3691-3p	CLIP-seq
MIRT2222093	hsa-miR-378g	CLIP-seq
MIRT971012	hsa-miR-3977	CLIP-seq
MIRT2222094	hsa-miR-4253	CLIP-seq
MIRT1987677	hsa-miR-4309	CLIP-seq
MIRT971015	hsa-miR-4313	CLIP-seq
MIRT2222095	hsa-miR-432	CLIP-seq
MIRT971017	hsa-miR-4324	CLIP-seq
MIRT2222096	hsa-miR-4327	CLIP-seq
MIRT2222097	hsa-miR-4422	CLIP-seq
MIRT971018	hsa-miR-4464	CLIP-seq
MIRT2222098	hsa-miR-4486	CLIP-seq
MIRT2222099	hsa-miR-4653-3p	CLIP-seq
MIRT2222100	hsa-miR-4688	CLIP-seq
MIRT971022	hsa-miR-4708-3p	CLIP-seq
MIRT2222101	hsa-miR-4712-3p	CLIP-seq
MIRT971023	hsa-miR-4727-5p	CLIP-seq
MIRT971025	hsa-miR-4748	CLIP-seq
MIRT971026	hsa-miR-4753-3p	CLIP-seq
MIRT2222102	hsa-miR-4758-3p	CLIP-seq
MIRT971028	hsa-miR-4768-5p	CLIP-seq
MIRT2222103	hsa-miR-486-3p	CLIP-seq
MIRT971031	hsa-miR-5047	CLIP-seq
MIRT2222104	hsa-miR-515-5p	CLIP-seq
MIRT971032	hsa-miR-532-3p	CLIP-seq
MIRT971033	hsa-miR-544	CLIP-seq
MIRT971034	hsa-miR-545	CLIP-seq
MIRT2222105	hsa-miR-593	CLIP-seq
MIRT2222106	hsa-miR-612	CLIP-seq
MIRT971037	hsa-miR-662	CLIP-seq
MIRT2222107	hsa-miR-760	CLIP-seq
MIRT1987685	hsa-miR-765	CLIP-seq
MIRT1987671	hsa-miR-3198	CLIP-seq
MIRT1987677	hsa-miR-4309	CLIP-seq
MIRT1987669	hsa-miR-3173-5p	CLIP-seq
MIRT1987669	hsa-miR-3173-5p	CLIP-seq
MIRT971018	hsa-miR-4464	CLIP-seq
MIRT971023	hsa-miR-4727-5p	CLIP-seq
MIRT971025	hsa-miR-4748	CLIP-seq
MIRT971032	hsa-miR-532-3p	CLIP-seq
MIRT971033	hsa-miR-544	CLIP-seq
MIRT971037	hsa-miR-662	CLIP-seq
MIRT2680306	hsa-miR-1268	CLIP-seq
MIRT2680307	hsa-miR-1268b	CLIP-seq
MIRT2222084	hsa-miR-1915	CLIP-seq
MIRT1987667	hsa-miR-2861	CLIP-seq
MIRT1987668	hsa-miR-3150b-3p	CLIP-seq
MIRT2680308	hsa-miR-3151	CLIP-seq
MIRT2680309	hsa-miR-4266	CLIP-seq
MIRT971018	hsa-miR-4464	CLIP-seq
MIRT1987679	hsa-miR-4640-3p	CLIP-seq
MIRT2680310	hsa-miR-4656	CLIP-seq
MIRT1987681	hsa-miR-4695-5p	CLIP-seq
MIRT2680311	hsa-miR-4716-3p	CLIP-seq
MIRT2680312	hsa-miR-4723-5p	CLIP-seq
MIRT2680313	hsa-miR-4726-3p	CLIP-seq
MIRT971023	hsa-miR-4727-5p	CLIP-seq
MIRT971025	hsa-miR-4748	CLIP-seq
MIRT2680314	hsa-miR-4779	CLIP-seq
MIRT1987683	hsa-miR-4784	CLIP-seq
MIRT971032	hsa-miR-532-3p	CLIP-seq
MIRT971033	hsa-miR-544	CLIP-seq
MIRT971037	hsa-miR-662	CLIP-seq
MIRT1987685	hsa-miR-765	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Unknown	12960079

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001650	Component	Fibrillar center	IDA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	21190936
GO:0003707	Function	Steroid hormone receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA	21873635
GO:0005496	Function	Steroid binding	IEA
GO:0005515	Function	Protein binding	IPI	12522104, 15337744, 18063693, 18331830, 18441008, 18509053, 21190936, 21988832, 32296183
GO:0005634	Component	Nucleus	IDA	21190936
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	21190936
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	23836911
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007005	Process	Mitochondrion organization	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0043401	Process	Steroid hormone mediated signaling pathway	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	23836911
GO:0045171	Component	Intercellular bridge	IDA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 601998
• HGNC: 3471
• e!Ensembl: ENSG00000173153

Protein

• UniProt ID: P11474
• Protein name: Steroid hormone receptor ERR1 (Estrogen receptor-like 1) (Estrogen-related receptor alpha) (ERR-alpha) (Nuclear receptor subfamily 3 group B member 1)
• Protein function: Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promo
• PDB: 1XB7, 2PJL, 3D24, 3K6P, 7E2E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	77 → 146	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	224 → 404	Ligand-binding domain of nuclear hormone receptor	Domain

• Sequence:

  MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAG
  PGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNE
  CEITKRRRKACQACRFTKCLRVGMLKEGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGP
  LAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTI
  SWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAA
  GLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALL
  EYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEMLEA
  MMD

• Sequence length: 423

Pathways

Reactome:

PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Nuclear Receptor transcription pathway
Regulation of RUNX2 expression and activity

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	20961995
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	20961995
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	20961995

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		20961995
Metabolic diseases	Metabolic Diseases	rs267607648	16515477
Osteosarcoma	Osteosarcoma		24967384