CCNE1 (cyclin E1)

Gene

• Entrez ID: 898
• Gene name: Cyclin E1
• Gene symbol: CCNE1
• Synonyms: CCNE, pCCNE1
• Chromosome: 19
• Chromosome location: 19q12
• Summary: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001228	hsa-miR-15a-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001228	hsa-miR-15a-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001226	hsa-miR-16-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001226	hsa-miR-16-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001226	hsa-miR-16-5p	qRT-PCR, flow, Luciferase reporter assay, Western blot	18701644
MIRT001226	hsa-miR-16-5p	qRT-PCR, flow, Western blot	18701644
MIRT000936	hsa-miR-424-5p	qRT-PCR, flow, Western blot	18701644
MIRT000936	hsa-miR-424-5p	Luciferase reporter assay	19956200
MIRT000646	hsa-miR-503-5p	Luciferase reporter assay	19956200
MIRT001228	hsa-miR-15a-5p	Luciferase reporter assay	19549910
MIRT001228	hsa-miR-15a-5p	Luciferase reporter assay	19549910
MIRT000276	hsa-miR-15b-5p	Luciferase reporter assay	18794849
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay	18701644
MIRT001226	hsa-miR-16-5p	Review	20130964
MIRT001228	hsa-miR-15a-5p	immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	19117988
MIRT004693	hsa-miR-107	Flow, Immunoblot, Microarray, qRT-PCR	19688090
MIRT004698	hsa-miR-185-5p	Flow, Immunoblot, Microarray, qRT-PCR	19688090
MIRT004762	hsa-miR-103a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20886090
MIRT000276	hsa-miR-15b-5p	Luciferase reporter assay, qRT-PCR, Western blot	19135980
MIRT000276	hsa-miR-15b-5p	Luciferase reporter assay, qRT-PCR, Western blot	19135980
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	19250063
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	19250063
MIRT000936	hsa-miR-424-5p	Immunohistochemistry, qRT-PCR, Western blot	21179471
MIRT006308	hsa-miR-26b-5p	Luciferase reporter assay, Western blot	22210897
MIRT006309	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	22210897
MIRT006308	hsa-miR-26b-5p	Luciferase reporter assay, Western blot	22210897
MIRT006309	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	22210897
MIRT006308	hsa-miR-26b-5p	Luciferase reporter assay, Western blot	22210897
MIRT006309	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	22210897
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay	23083510
MIRT007237	hsa-miR-195-5p	Luciferase reporter assay	23383003
MIRT024440	hsa-miR-215-5p	Microarray	19074876
MIRT026235	hsa-miR-192-5p	Microarray	19074876
MIRT001226	hsa-miR-16-5p	Microarray	21199864
MIRT035523	hsa-miR-151a-3p	Luciferase reporter assay	23416081
MIRT001226	hsa-miR-16-5p	CLASH	23622248
MIRT049367	hsa-miR-92a-3p	CLASH	23622248
MIRT049367	hsa-miR-92a-3p	CLASH	23622248
MIRT045919	hsa-miR-125b-5p	CLASH	23622248
MIRT038211	hsa-miR-342-5p	CLASH	23622248
MIRT000276	hsa-miR-15b-5p	qRT-PCR, Western blot	22045185
MIRT001228	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23900351
MIRT081649	hsa-miR-497-5p	Luciferase reporter assay, Western blot	24112607
MIRT081649	hsa-miR-497-5p	Luciferase reporter assay, Western blot	24112607
MIRT007237	hsa-miR-195-5p	Luciferase reporter assay, Western blot	23544130
MIRT081649	hsa-miR-497-5p	Luciferase reporter assay, Western blot	23544130
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT081649	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT007237	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT001226	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT000936	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT000646	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT558888	hsa-miR-646	PAR-CLIP	20371350
MIRT081648	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT558887	hsa-miR-5191	PAR-CLIP	20371350
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT558884	hsa-miR-4477a	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT000936	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT081649	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT001226	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT007237	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT000646	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT558888	hsa-miR-646	PAR-CLIP	21572407
MIRT081648	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT558887	hsa-miR-5191	PAR-CLIP	21572407
MIRT558886	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT558885	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558884	hsa-miR-4477a	PAR-CLIP	21572407
MIRT001228	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT000276	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT001226	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT007237	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT006309	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT006308	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT438133	hsa-miR-7-5p	qRT-PCR, Western blot	27391479
MIRT001228	hsa-miR-15a-5p	Western blot	26397135
MIRT001226	hsa-miR-16-5p	Western blot	26397135
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	25830480
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	25830480
MIRT007237	hsa-miR-195-5p	qRT-PCR	31656079
MIRT734771	hsa-miR-29b-3p	Luciferase reporter assay, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR	33679655
MIRT081649	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT007237	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT001226	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT000936	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT000646	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT558888	hsa-miR-646	PAR-CLIP	20371350
MIRT081648	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT558887	hsa-miR-5191	PAR-CLIP	20371350
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT558884	hsa-miR-4477a	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT000936	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT081649	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT001226	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT007237	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT000646	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT558888	hsa-miR-646	PAR-CLIP	21572407
MIRT081648	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT558887	hsa-miR-5191	PAR-CLIP	21572407
MIRT558886	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT558885	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558884	hsa-miR-4477a	PAR-CLIP	21572407
MIRT871795	hsa-miR-103a	CLIP-seq
MIRT871796	hsa-miR-1289	CLIP-seq
MIRT871797	hsa-miR-1297	CLIP-seq
MIRT871798	hsa-miR-15a	CLIP-seq
MIRT871799	hsa-miR-15b	CLIP-seq
MIRT871800	hsa-miR-16	CLIP-seq
MIRT871801	hsa-miR-185	CLIP-seq
MIRT871802	hsa-miR-195	CLIP-seq
MIRT871803	hsa-miR-2114	CLIP-seq
MIRT871804	hsa-miR-26a	CLIP-seq
MIRT871805	hsa-miR-26b	CLIP-seq
MIRT871806	hsa-miR-29a	CLIP-seq
MIRT871807	hsa-miR-29b	CLIP-seq
MIRT871808	hsa-miR-29c	CLIP-seq
MIRT871809	hsa-miR-424	CLIP-seq
MIRT871810	hsa-miR-4306	CLIP-seq
MIRT871811	hsa-miR-4465	CLIP-seq
MIRT871812	hsa-miR-4491	CLIP-seq
MIRT871813	hsa-miR-4524	CLIP-seq
MIRT871814	hsa-miR-4644	CLIP-seq
MIRT871815	hsa-miR-4657	CLIP-seq
MIRT871816	hsa-miR-497	CLIP-seq
MIRT871817	hsa-miR-503	CLIP-seq
MIRT871818	hsa-miR-505	CLIP-seq
MIRT871819	hsa-miR-562	CLIP-seq
MIRT871820	hsa-miR-587	CLIP-seq
MIRT871795	hsa-miR-103a	CLIP-seq
MIRT871821	hsa-miR-1204	CLIP-seq
MIRT871822	hsa-miR-1231	CLIP-seq
MIRT871796	hsa-miR-1289	CLIP-seq
MIRT871823	hsa-miR-1291	CLIP-seq
MIRT871797	hsa-miR-1297	CLIP-seq
MIRT871824	hsa-miR-138	CLIP-seq
MIRT871825	hsa-miR-144	CLIP-seq
MIRT871826	hsa-miR-146b-3p	CLIP-seq
MIRT871798	hsa-miR-15a	CLIP-seq
MIRT871799	hsa-miR-15b	CLIP-seq
MIRT871800	hsa-miR-16	CLIP-seq
MIRT871802	hsa-miR-195	CLIP-seq
MIRT871803	hsa-miR-2114	CLIP-seq
MIRT871804	hsa-miR-26a	CLIP-seq
MIRT871805	hsa-miR-26b	CLIP-seq
MIRT871806	hsa-miR-29a	CLIP-seq
MIRT871807	hsa-miR-29b	CLIP-seq
MIRT871808	hsa-miR-29c	CLIP-seq
MIRT871827	hsa-miR-3140-3p	CLIP-seq
MIRT871828	hsa-miR-3157-3p	CLIP-seq
MIRT871829	hsa-miR-3173-5p	CLIP-seq
MIRT871830	hsa-miR-328	CLIP-seq
MIRT871831	hsa-miR-3652	CLIP-seq
MIRT871832	hsa-miR-3682-5p	CLIP-seq
MIRT871833	hsa-miR-3689d	CLIP-seq
MIRT871809	hsa-miR-424	CLIP-seq
MIRT871834	hsa-miR-4265	CLIP-seq
MIRT871835	hsa-miR-4290	CLIP-seq
MIRT871836	hsa-miR-4296	CLIP-seq
MIRT871837	hsa-miR-4322	CLIP-seq
MIRT871838	hsa-miR-4430	CLIP-seq
MIRT871811	hsa-miR-4465	CLIP-seq
MIRT871839	hsa-miR-4505	CLIP-seq
MIRT871813	hsa-miR-4524	CLIP-seq
MIRT871840	hsa-miR-4648	CLIP-seq
MIRT871841	hsa-miR-4654	CLIP-seq
MIRT871842	hsa-miR-4769-5p	CLIP-seq
MIRT871816	hsa-miR-497	CLIP-seq
MIRT871843	hsa-miR-498	CLIP-seq
MIRT871817	hsa-miR-503	CLIP-seq
MIRT871844	hsa-miR-516b	CLIP-seq
MIRT871845	hsa-miR-521	CLIP-seq
MIRT871819	hsa-miR-562	CLIP-seq
MIRT871820	hsa-miR-587	CLIP-seq
MIRT871846	hsa-miR-663b	CLIP-seq
MIRT871847	hsa-miR-874	CLIP-seq
MIRT871843	hsa-miR-498	CLIP-seq
MIRT871795	hsa-miR-103a	CLIP-seq
MIRT871822	hsa-miR-1231	CLIP-seq
MIRT2195464	hsa-miR-1256	CLIP-seq
MIRT871797	hsa-miR-1297	CLIP-seq
MIRT871824	hsa-miR-138	CLIP-seq
MIRT871798	hsa-miR-15a	CLIP-seq
MIRT871799	hsa-miR-15b	CLIP-seq
MIRT871800	hsa-miR-16	CLIP-seq
MIRT871802	hsa-miR-195	CLIP-seq
MIRT871803	hsa-miR-2114	CLIP-seq
MIRT871804	hsa-miR-26a	CLIP-seq
MIRT871805	hsa-miR-26b	CLIP-seq
MIRT871806	hsa-miR-29a	CLIP-seq
MIRT871807	hsa-miR-29b	CLIP-seq
MIRT871808	hsa-miR-29c	CLIP-seq
MIRT871831	hsa-miR-3652	CLIP-seq
MIRT871833	hsa-miR-3689d	CLIP-seq
MIRT2195465	hsa-miR-3910	CLIP-seq
MIRT871809	hsa-miR-424	CLIP-seq
MIRT871838	hsa-miR-4430	CLIP-seq
MIRT871811	hsa-miR-4465	CLIP-seq
MIRT871839	hsa-miR-4505	CLIP-seq
MIRT871813	hsa-miR-4524	CLIP-seq
MIRT871816	hsa-miR-497	CLIP-seq
MIRT871817	hsa-miR-503	CLIP-seq
MIRT871818	hsa-miR-505	CLIP-seq
MIRT871844	hsa-miR-516b	CLIP-seq
MIRT871845	hsa-miR-521	CLIP-seq
MIRT2195466	hsa-miR-548an	CLIP-seq
MIRT871819	hsa-miR-562	CLIP-seq
MIRT871820	hsa-miR-587	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ARNT	Repression	21544813
CBX7	Repression	22214847
E2F1	Activation	14618416;20220142;8618861
EP300	Activation	12414652
EZH2	Activation	20132185
HDAC2	Repression	22214847
IRF1	Repression	22200613
MYC	Activation	20607601
NR5A2	Unknown	19041685
PPARG	Repression	14960510
PROX1	Activation	21040746
TCF19	Repression	15051733
TFDP1	Activation	12029633;14618416
WT1	Repression	11919196
ZHX2	Repression	22406477

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	21873635
GO:0000082	Process	G1/S transition of mitotic cell cycle	IBA	21873635
GO:0000082	Process	G1/S transition of mitotic cell cycle	IMP	23083510, 25732226
GO:0000082	Process	G1/S transition of mitotic cell cycle	NAS	8207080
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IBA	21873635
GO:0000723	Process	Telomere maintenance	IEA
GO:0005515	Function	Protein binding	IPI	8756624, 9840943, 9891079, 10330164, 16431923, 16504183, 16721056, 16765349, 17254966, 17254967, 17434132, 17525332, 19470470, 21092281, 21540187, 21952639, 21988832, 23455922, 23602568, 23853094, 24358021, 25241761, 25852190, 28514442, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	16109376, 19942931
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006270	Process	DNA replication initiation	IEA
GO:0006468	Process	Protein phosphorylation	IMP	10500095
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA	21873635
GO:0019901	Function	Protein kinase binding	IEA
GO:0044772	Process	Mitotic cell cycle phase transition	IBA	21873635
GO:0051301	Process	Cell division	IEA
GO:0097134	Component	Cyclin E1-CDK2 complex	IBA	21873635
GO:0097134	Component	Cyclin E1-CDK2 complex	IDA	18305109
GO:1902462	Process	Positive regulation of mesenchymal stem cell proliferation	IMP	23083510
GO:1903827	Process	Regulation of cellular protein localization	IEA

Other IDs

• MIM: 123837
• HGNC: 1589
• e!Ensembl: ENSG00000105173

Protein

• UniProt ID: P24864
• Protein name: G1/S-specific cyclin-E1
• Protein function: Essential for the control of the cell cycle at the G1/S (start) transition.
• PDB: 1W98, 5L2W, 7KJS, 7XQK, 8H4R, 8H6P, 8H6T, 8VQ3, 8VQ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00134	Cyclin_N	115 → 242	Cyclin, N-terminal domain	Domain
  PF02984	Cyclin_C	244 → 366	Cyclin, C-terminal domain	Domain

• Sequence:

  MPRERRERDAKERDTMKEDGGAEFSARSRKRKANVTVFLQDPDEEMAKIDRTARDQCGSQ
  PWDNNAVCADPCSLIPTPDKEDDDRVYPNSTCKPRIIAPSRGSPLPVLSWANREEVWKIM
  LNKEKTYLRDQHFLEQHPLLQPKMRAILLDWLMEVCEVYKLHRETFYLAQDFFDRYMATQ
  ENVVKTLLQLIGISSLFIAAKLEEIYPPKLHQFAYVTDGACSGDEILTMELMIMKALKWR
  LSPLTIVSWLNVYMQVAYLNDLHEVLLPQYPQQIFIQIAELLDLCVLDVDCLEFPYGILA
  ASALYHFSSSELMQKVSGYQWCDIENCVKWMVPFAMVIRETGSSKLKHFRGVADEDAHNI
  QTHRDSLDLLDKARAKKAMLSEQNRASPLPSGLLTPPQSGKKQSSGPEMA

• Sequence length: 410

Pathways

KEGG:

Cell cycle
Oocyte meiosis
p53 signaling pathway
PI3K-Akt signaling pathway
Cellular senescence
Cushing syndrome
Hepatitis B
Measles
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
MicroRNAs in cancer
Prostate cancer
Small cell lung cancer
Gastric cancer

Reactome:

G0 and Early G1
SCF(Skp2)-mediated degradation of p27/p21
DNA Damage/Telomere Stress Induced Senescence
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
CDK-mediated phosphorylation and removal of Cdc6
Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
Cyclin E associated events during G1/S transition
G1/S-Specific Transcription
p53-Dependent G1 DNA Damage Response
PTK6 Regulates Cell Cycle

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	23624423, 19385967
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	23624423, 19385967
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075	29464035
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	19385967, 23624423
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	19270706
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	21397856
Ovarian carcinoma	Ovarian Carcinoma	rs62625308, rs137886232, rs397507192, rs80357609, rs397508926, rs80357223, rs80357678, rs587779243, rs587782861, rs747539984, rs876658381

Unknown
Disease name	Disease term	dbSNP ID	References
Urinary bladder cancer	Malignant neoplasm of urinary bladder		20972438, 27514407
Bladder neoplasm	Bladder Neoplasm		27514407, 20972438
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		23624423, 19385967
Liver carcinoma	Liver carcinoma		12029619, 22634754
Malignant neoplasm	Malignant Neoplasms
Medullomyoblastoma	Medullomyoblastoma		19270706
Ovarian neoplasm	ovarian neoplasm		21397856