TOP2A (DNA topoisomerase II alpha)

Gene

• Entrez ID: 7153
• Gene name: DNA topoisomerase II alpha
• Gene symbol: TOP2A
• Synonyms: TOP2, TOP2alpha, TOPIIA, TP2A
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional str

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140672916	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016473	hsa-miR-193b-3p	Microarray	20304954
MIRT030914	hsa-miR-21-5p	Microarray	18591254
MIRT047766	hsa-miR-7-5p	CLASH	23622248
MIRT045191	hsa-miR-186-5p	CLASH	23622248
MIRT037756	hsa-miR-708-5p	CLASH	23622248
MIRT036474	hsa-miR-1226-3p	CLASH	23622248
MIRT690907	hsa-miR-561-3p	HITS-CLIP	23313552
MIRT690906	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT690905	hsa-miR-5688	HITS-CLIP	23313552
MIRT690904	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT690903	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT690902	hsa-miR-4524b-3p	HITS-CLIP	23313552
MIRT690901	hsa-miR-3668	HITS-CLIP	23313552
MIRT690900	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT690899	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT690898	hsa-miR-203a-3p	HITS-CLIP	23313552
MIRT439403	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT439402	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439403	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT439402	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT690907	hsa-miR-561-3p	HITS-CLIP	23313552
MIRT690906	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT690905	hsa-miR-5688	HITS-CLIP	23313552
MIRT690904	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT690903	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT690902	hsa-miR-4524b-3p	HITS-CLIP	23313552
MIRT690901	hsa-miR-3668	HITS-CLIP	23313552
MIRT690900	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT690899	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT690898	hsa-miR-203a-3p	HITS-CLIP	23313552
MIRT755819	miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), ChIP-seq	38008711
MIRT756018	hsa-miR-30c-2-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC)	37818158
MIRT1447187	hsa-miR-1253	CLIP-seq
MIRT1447188	hsa-miR-1271	CLIP-seq
MIRT1447189	hsa-miR-1273f	CLIP-seq
MIRT1447190	hsa-miR-1323	CLIP-seq
MIRT1447191	hsa-miR-139-5p	CLIP-seq
MIRT1447192	hsa-miR-143	CLIP-seq
MIRT1447193	hsa-miR-144	CLIP-seq
MIRT1447194	hsa-miR-1587	CLIP-seq
MIRT1447195	hsa-miR-186	CLIP-seq
MIRT1447196	hsa-miR-224	CLIP-seq
MIRT1447197	hsa-miR-2355-5p	CLIP-seq
MIRT1447198	hsa-miR-2964a-5p	CLIP-seq
MIRT1447199	hsa-miR-3117-5p	CLIP-seq
MIRT1447200	hsa-miR-3133	CLIP-seq
MIRT1447201	hsa-miR-3143	CLIP-seq
MIRT1447202	hsa-miR-3161	CLIP-seq
MIRT1447203	hsa-miR-3163	CLIP-seq
MIRT1447204	hsa-miR-3173-3p	CLIP-seq
MIRT1447205	hsa-miR-323-3p	CLIP-seq
MIRT1447206	hsa-miR-330-3p	CLIP-seq
MIRT1447207	hsa-miR-340	CLIP-seq
MIRT1447208	hsa-miR-3614-5p	CLIP-seq
MIRT1447209	hsa-miR-365	CLIP-seq
MIRT1447210	hsa-miR-3659	CLIP-seq
MIRT1447211	hsa-miR-3673	CLIP-seq
MIRT1447212	hsa-miR-3682-5p	CLIP-seq
MIRT1447213	hsa-miR-371b-5p	CLIP-seq
MIRT1447214	hsa-miR-377	CLIP-seq
MIRT1447215	hsa-miR-3919	CLIP-seq
MIRT1447216	hsa-miR-3929	CLIP-seq
MIRT1447217	hsa-miR-410	CLIP-seq
MIRT1447218	hsa-miR-411	CLIP-seq
MIRT1447219	hsa-miR-4257	CLIP-seq
MIRT1447220	hsa-miR-4280	CLIP-seq
MIRT1447221	hsa-miR-431	CLIP-seq
MIRT1447222	hsa-miR-4419b	CLIP-seq
MIRT1447223	hsa-miR-4478	CLIP-seq
MIRT1447224	hsa-miR-4511	CLIP-seq
MIRT1447225	hsa-miR-4641	CLIP-seq
MIRT1447226	hsa-miR-4645-3p	CLIP-seq
MIRT1447227	hsa-miR-4658	CLIP-seq
MIRT1447228	hsa-miR-4662a-3p	CLIP-seq
MIRT1447229	hsa-miR-4670-3p	CLIP-seq
MIRT1447230	hsa-miR-4674	CLIP-seq
MIRT1447231	hsa-miR-4699-3p	CLIP-seq
MIRT1447232	hsa-miR-4708-5p	CLIP-seq
MIRT1447233	hsa-miR-4724-5p	CLIP-seq
MIRT1447234	hsa-miR-4744	CLIP-seq
MIRT1447235	hsa-miR-4766-5p	CLIP-seq
MIRT1447236	hsa-miR-4770	CLIP-seq
MIRT1447237	hsa-miR-4771	CLIP-seq
MIRT1447238	hsa-miR-4789-3p	CLIP-seq
MIRT1447239	hsa-miR-485-5p	CLIP-seq
MIRT1447240	hsa-miR-543	CLIP-seq
MIRT1447241	hsa-miR-548a-5p	CLIP-seq
MIRT1447242	hsa-miR-548aa	CLIP-seq
MIRT1447243	hsa-miR-548ab	CLIP-seq
MIRT1447244	hsa-miR-548ac	CLIP-seq
MIRT1447245	hsa-miR-548ae	CLIP-seq
MIRT1447246	hsa-miR-548aj	CLIP-seq
MIRT1447247	hsa-miR-548ak	CLIP-seq
MIRT1447248	hsa-miR-548am	CLIP-seq
MIRT1447249	hsa-miR-548b-5p	CLIP-seq
MIRT1447250	hsa-miR-548c-3p	CLIP-seq
MIRT1447251	hsa-miR-548c-5p	CLIP-seq
MIRT1447252	hsa-miR-548d-3p	CLIP-seq
MIRT1447253	hsa-miR-548d-5p	CLIP-seq
MIRT1447254	hsa-miR-548h	CLIP-seq
MIRT1447255	hsa-miR-548i	CLIP-seq
MIRT1447256	hsa-miR-548j	CLIP-seq
MIRT1447257	hsa-miR-548k	CLIP-seq
MIRT1447258	hsa-miR-548l	CLIP-seq
MIRT1447259	hsa-miR-548o	CLIP-seq
MIRT1447260	hsa-miR-548w	CLIP-seq
MIRT1447261	hsa-miR-548x	CLIP-seq
MIRT1447262	hsa-miR-548y	CLIP-seq
MIRT1447263	hsa-miR-548z	CLIP-seq
MIRT1447264	hsa-miR-559	CLIP-seq
MIRT1447265	hsa-miR-570	CLIP-seq
MIRT1447266	hsa-miR-574-5p	CLIP-seq
MIRT1447267	hsa-miR-582-5p	CLIP-seq
MIRT1447268	hsa-miR-635	CLIP-seq
MIRT1447269	hsa-miR-643	CLIP-seq
MIRT1447270	hsa-miR-888	CLIP-seq
MIRT1447271	hsa-miR-96	CLIP-seq
MIRT2133700	hsa-miR-1193	CLIP-seq
MIRT2133701	hsa-miR-1245	CLIP-seq
MIRT1447188	hsa-miR-1271	CLIP-seq
MIRT1447194	hsa-miR-1587	CLIP-seq
MIRT1447195	hsa-miR-186	CLIP-seq
MIRT2133702	hsa-miR-1910	CLIP-seq
MIRT2133703	hsa-miR-21	CLIP-seq
MIRT1447196	hsa-miR-224	CLIP-seq
MIRT2133704	hsa-miR-2276	CLIP-seq
MIRT2133705	hsa-miR-28-3p	CLIP-seq
MIRT1447200	hsa-miR-3133	CLIP-seq
MIRT1447201	hsa-miR-3143	CLIP-seq
MIRT2133706	hsa-miR-3182	CLIP-seq
MIRT1447205	hsa-miR-323-3p	CLIP-seq
MIRT2133707	hsa-miR-3616-5p	CLIP-seq
MIRT2133708	hsa-miR-3647-5p	CLIP-seq
MIRT1447210	hsa-miR-3659	CLIP-seq
MIRT2133709	hsa-miR-3681	CLIP-seq
MIRT2133710	hsa-miR-3691-5p	CLIP-seq
MIRT1447214	hsa-miR-377	CLIP-seq
MIRT2133711	hsa-miR-3909	CLIP-seq
MIRT1447216	hsa-miR-3929	CLIP-seq
MIRT2133712	hsa-miR-409-3p	CLIP-seq
MIRT1447217	hsa-miR-410	CLIP-seq
MIRT1447218	hsa-miR-411	CLIP-seq
MIRT1447220	hsa-miR-4280	CLIP-seq
MIRT1447222	hsa-miR-4419b	CLIP-seq
MIRT2133713	hsa-miR-4460	CLIP-seq
MIRT1447223	hsa-miR-4478	CLIP-seq
MIRT2133714	hsa-miR-4646-3p	CLIP-seq
MIRT1447227	hsa-miR-4658	CLIP-seq
MIRT1447228	hsa-miR-4662a-3p	CLIP-seq
MIRT1447229	hsa-miR-4670-3p	CLIP-seq
MIRT1447230	hsa-miR-4674	CLIP-seq
MIRT2133715	hsa-miR-4727-3p	CLIP-seq
MIRT2133716	hsa-miR-4753-3p	CLIP-seq
MIRT2133717	hsa-miR-4768-5p	CLIP-seq
MIRT2133718	hsa-miR-4772-3p	CLIP-seq
MIRT1447238	hsa-miR-4789-3p	CLIP-seq
MIRT2133719	hsa-miR-4795-5p	CLIP-seq
MIRT1447239	hsa-miR-485-5p	CLIP-seq
MIRT1447240	hsa-miR-543	CLIP-seq
MIRT2133720	hsa-miR-544	CLIP-seq
MIRT1447242	hsa-miR-548aa	CLIP-seq
MIRT1447245	hsa-miR-548ae	CLIP-seq
MIRT1447246	hsa-miR-548aj	CLIP-seq
MIRT1447248	hsa-miR-548am	CLIP-seq
MIRT1447261	hsa-miR-548x	CLIP-seq
MIRT2133721	hsa-miR-573	CLIP-seq
MIRT1447266	hsa-miR-574-5p	CLIP-seq
MIRT2133722	hsa-miR-590-5p	CLIP-seq
MIRT2133723	hsa-miR-603	CLIP-seq
MIRT1447268	hsa-miR-635	CLIP-seq
MIRT1447270	hsa-miR-888	CLIP-seq
MIRT2133724	hsa-miR-9	CLIP-seq
MIRT2133725	hsa-miR-924	CLIP-seq
MIRT1447271	hsa-miR-96	CLIP-seq
MIRT2354862	hsa-miR-105	CLIP-seq
MIRT2354863	hsa-miR-1298	CLIP-seq
MIRT1447193	hsa-miR-144	CLIP-seq
MIRT1447194	hsa-miR-1587	CLIP-seq
MIRT2354864	hsa-miR-1827	CLIP-seq
MIRT1447195	hsa-miR-186	CLIP-seq
MIRT1447198	hsa-miR-2964a-5p	CLIP-seq
MIRT1447200	hsa-miR-3133	CLIP-seq
MIRT1447201	hsa-miR-3143	CLIP-seq
MIRT1447203	hsa-miR-3163	CLIP-seq
MIRT1447207	hsa-miR-340	CLIP-seq
MIRT2354865	hsa-miR-34b	CLIP-seq
MIRT1447208	hsa-miR-3614-5p	CLIP-seq
MIRT1447210	hsa-miR-3659	CLIP-seq
MIRT1447212	hsa-miR-3682-5p	CLIP-seq
MIRT1447216	hsa-miR-3929	CLIP-seq
MIRT2133712	hsa-miR-409-3p	CLIP-seq
MIRT1447218	hsa-miR-411	CLIP-seq
MIRT1447219	hsa-miR-4257	CLIP-seq
MIRT1447220	hsa-miR-4280	CLIP-seq
MIRT1447221	hsa-miR-431	CLIP-seq
MIRT1447222	hsa-miR-4419b	CLIP-seq
MIRT1447223	hsa-miR-4478	CLIP-seq
MIRT1447226	hsa-miR-4645-3p	CLIP-seq
MIRT1447227	hsa-miR-4658	CLIP-seq
MIRT2354866	hsa-miR-4659a-3p	CLIP-seq
MIRT2354867	hsa-miR-4659b-3p	CLIP-seq
MIRT1447229	hsa-miR-4670-3p	CLIP-seq
MIRT1447230	hsa-miR-4674	CLIP-seq
MIRT2354868	hsa-miR-4735-5p	CLIP-seq
MIRT1447234	hsa-miR-4744	CLIP-seq
MIRT2354869	hsa-miR-4775	CLIP-seq
MIRT1447239	hsa-miR-485-5p	CLIP-seq
MIRT1447240	hsa-miR-543	CLIP-seq
MIRT1447242	hsa-miR-548aa	CLIP-seq
MIRT1447266	hsa-miR-574-5p	CLIP-seq
MIRT2354870	hsa-miR-590-3p	CLIP-seq
MIRT2354871	hsa-miR-606	CLIP-seq
MIRT1447268	hsa-miR-635	CLIP-seq
MIRT1447269	hsa-miR-643	CLIP-seq
MIRT1447210	hsa-miR-3659	CLIP-seq
MIRT1447216	hsa-miR-3929	CLIP-seq
MIRT1447218	hsa-miR-411	CLIP-seq
MIRT1447219	hsa-miR-4257	CLIP-seq
MIRT1447220	hsa-miR-4280	CLIP-seq
MIRT1447222	hsa-miR-4419b	CLIP-seq
MIRT1447223	hsa-miR-4478	CLIP-seq
MIRT2396208	hsa-miR-4502	CLIP-seq
MIRT1447227	hsa-miR-4658	CLIP-seq
MIRT1447239	hsa-miR-485-5p	CLIP-seq
MIRT1447266	hsa-miR-574-5p	CLIP-seq
MIRT1447268	hsa-miR-635	CLIP-seq
MIRT1447187	hsa-miR-1253	CLIP-seq
MIRT2462139	hsa-miR-3185	CLIP-seq
MIRT2462140	hsa-miR-580	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF1	Unknown	12104051
E2F1	Activation	11313881
UHRF1	Unknown	10646863
YBX1	Unknown	10597187

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IDA	9049244
GO:0000287	Function	Magnesium ion binding	IDA	22323612
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA	21873635
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000793	Component	Condensed chromosome	IEA
GO:0000819	Process	Sister chromatid segregation	IBA	21873635
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003677	Function	DNA binding	IDA	9049244, 10788521, 12079377
GO:0003682	Function	Chromatin binding	IDA	9049244
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IDA	16611985
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IMP	12711669
GO:0005080	Function	Protein kinase C binding	IPI	16611985
GO:0005515	Function	Protein binding	IPI	10788521, 12711669, 15965487, 16611985, 17983804, 18790802, 19390626, 20457750, 23652018, 23698369, 26030138
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	9155056, 10788521, 10959840, 16611985
GO:0005654	Component	Nucleoplasm	IDA	8299728, 9049244
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	8299728, 9155056, 17567603
GO:0005730	Component	Nucleolus	IDA	9049244
GO:0005737	Component	Cytoplasm	IDA	9155056
GO:0005814	Component	Centriole	IDA	9049244
GO:0006265	Process	DNA topological change	IDA	22323612
GO:0006265	Process	DNA topological change	IMP	12711669
GO:0006266	Process	DNA ligation	IDA	15491148
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	16611985
GO:0007059	Process	Chromosome segregation	IMP	11136718, 15456904, 15965487
GO:0007143	Process	Female meiotic nuclear division	IEA
GO:0008022	Function	Protein C-terminus binding	IPI	10666337, 15965487
GO:0008094	Function	DNA-dependent ATPase activity	IDA	12079377
GO:0008301	Function	DNA binding, bending	IDA	22323612
GO:0009330	Component	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) complex	IDA	10473615
GO:0019899	Function	Enzyme binding	IPI	10959840, 17567603
GO:0030263	Process	Apoptotic chromosome condensation	IBA	21873635
GO:0030263	Process	Apoptotic chromosome condensation	IDA	10959840
GO:0032991	Component	Protein-containing complex	IDA	16611985
GO:0040016	Process	Embryonic cleavage	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042803	Function	Protein homodimerization activity	IPI	10473615
GO:0042826	Function	Histone deacetylase binding	IPI	11062478, 11136718
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16611985
GO:0043130	Function	Ubiquitin binding	IMP	15965487
GO:0045870	Process	Positive regulation of single stranded viral RNA replication via double stranded DNA intermediate	IMP	16712776
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	10473615
GO:0048511	Process	Rhythmic process	IEA
GO:1905463	Process	Negative regulation of DNA duplex unwinding	IMP	12711669
GO:1990904	Component	Ribonucleoprotein complex	IDA	12711669

Other IDs

• MIM: 126430
• HGNC: 11989
• e!Ensembl: ENSG00000131747

Protein

• UniProt ID: P11388
• Protein name: DNA topoisomerase 2-alpha (EC 5.6.2.2) (DNA topoisomerase II, alpha isozyme)
• Protein function: Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand (Pu
• PDB: 1ZXM, 1ZXN, 4FM9, 4R1F, 5GWK, 5NNE, 6ZY5, 6ZY6, 6ZY7, 6ZY8, 8W50
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02518	HATPase_c	76 → 225	Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase	Domain
  PF00204	DNA_gyraseB	266 → 430	DNA gyrase B	Domain
  PF01751	Toprim	456 → 572	Toprim domain	Family
  PF16898	TOPRIM_C	573 → 711	C-terminal associated domain of TOPRIM	Family
  PF00521	DNA_topoisoIV	713 → 1172	DNA gyrase/topoisomerase IV, subunit A	Family
  PF08070	DTHCT	1430 → 1522	DTHCT (NUC029) region	Family

• Sequence:

  MEVSPLQPVNENMQVNKIKKNEDAKKRLSVERIYQKKTQLEHILLRPDTYIGSVELVTQQ
  MWVYDEDVGINYREVTFVPGLYKIFDEILVNAADNKQRDPKMSCIRVTIDPENNLISIWN
  NGKGIPVVEHKVEKMYVPALIFGQLLTSSNYDDDEKKVTGGRNGYGAKLCNIFSTKFTVE
  TASREYKKMFKQTWMDNMGRAGEMELKPFNGEDYTCITFQPDLSKFKMQSLDKDIVALMV
  RRAYDIAGSTKDVKVFLNGNKLPVKGFRSYVDMYLKDKLDETGNSLKVIHEQVNHRWEVC
  LTMSEKGFQQISFVNSIATSKGGRHVDYVADQIVTKLVDVVKKKNKGGVAVKAHQVKNHM
  WIFVNALIENPTFDSQTKENMTLQPKSFGSTCQLSEKFIKAAIGCGIVESILNWVKFKAQ
  VQLNKKCSAVKHNRIKGIPKLDDANDAGGRNSTECTLILTEGDSAKTLAVSGLGVVGRDK
  YGVFPLRGKILNVREASHKQIMENAEINNIIKIVGLQYKKNYEDEDSLKTLRYGKIMIMT
  DQDQDGSHIKGLLINFIHHNWPSLLRHRFLEEFITPIVKVSKNKQEMAFYSLPEFEEWKS
  STPNHKKWKVKYYKGLGTSTSKEAKEYFADMKRHRIQFKYSGPEDDAAISLAFSKKQIDD
  RKEWLTNFMEDRRQRKLLGLPEDYLYGQTTTYLTYNDFINKELILFSNSDNERSIPSMVD
  GLKPGQRKVLFTCFKRNDKREVKVAQLAGSVAEMSSYHHGEMSLMMTIINLAQNFVGSNN
  LNLLQPIGQFGTRLHGGKDSASPRYIFTMLSSLARLLFPPKDDHTLKFLYDDNQRVEPEW
  YIPIIPMVLINGAEGIGTGWSCKIPNFDVREIVNNIRRLMDGEEPLPMLPSYKNFKGTIE
  ELAPNQYVISGEVAILNSTTIEISELPVRTWTQTYKEQVLEPMLNGTEKTPPLITDYREY
  HTDTTVKFVVKMTEEKLAEAERVGLHKVFKLQTSLTCNSMVLFDHVGCLKKYDTVLDILR
  DFFELRLKYYGLRKEWLLGMLGAESAKLNNQARFILEKIDGKIIIENKPKKELIKVLIQR
  GYDSDPVKAWKEAQQKVPDEEENEESDNEKETEKSDSVTDSGPTFNYLLDMPLWYLTKEK
  KDELCRLRNEKEQELDTLKRKSPSDLWKEDLATFIEELEAVEAKEKQDEQVGLPGKGGKA
  KGKKTQMAEVLPSPRGQRVIPRITIEMKAEAEKKNKKKIKNENTEGSPQEDGVELEGLKQ
  RLEKKQKREPGTKTKKQTTLAFKPIKKGKKRNPWSDSESDRSSDESNFDVPPRETEPRRA
  ATKTKFTMDLDSDEDFSDFDEKTDDEDFVPSDASPPKTKTSPKLSNKELKPQKSVVSDLE
  ADDVKGSVPLSSSPPATHFPDETEITNPVPKKNVTVKKTAAKSQSSTSTTGAKKRAAPKG
  TKRDPALNSGVSQKPDPAKTKNRRKRKPSTSDDSDSNFEKIVSKAVTSKKSKGESDDFHM
  DFDSAVAPRAKSVRAKKPIKYLEESDEDDLF

• Sequence length: 1531

Pathways

KEGG:

Platinum drug resistance

Reactome:

Transcription of E2F targets under negative control by DREAM complex
SUMOylation of DNA replication proteins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Adrenocortical carcinoma	Adrenocortical carcinoma	rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802	23533247
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	22204715, 12006526, 11583189, 16234514
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	12006526, 16234514, 22204715, 11583189
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	18402387
Leukemia	leukemia, Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	15833037, 27903959
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	12006526, 11583189, 22204715, 16234514
Neuroblastoma	Neuroblastoma	rs121908161, rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	18671248, 16682295
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17363613

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		11583189, 22204715, 12006526, 16234514
Liver neoplasms	Liver neoplasms		30132517
Liver cancer	Malignant neoplasm of liver		30132517
Liver carcinoma	Liver carcinoma		28284560
Nervous system neoplasms	Nervous System Neoplasms
Neural crest tumor	Neural crest tumor		18671248, 16682295
Sclerocystic ovaries	Sclerocystic Ovaries		21411543
Polycystic ovary syndrome	Polycystic Ovary Syndrome		21411543
Prostatic neoplasms	Prostatic Neoplasms		17363613
Salivary gland neoplasm	Salivary Gland Neoplasms		16762588
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland		16762588