ZEB1 (zinc finger E-box binding homeobox 1)

Gene

• Entrez ID: 6935
• Gene name: Zinc finger E-box binding homeobox 1
• Gene symbol: ZEB1
• Synonyms: AREB6, BZP, DELTAEF1, FECD6, NIL2A, PPCD3, TCF8, ZFHEP, ZFHX1A
• Chromosome: 10
• Chromosome location: 10p11.22
• Summary: This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs766305306	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1057518956	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554930679	CAAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592090713	G>T	Pathogenic	Stop gained, coding sequence variant
rs1592143384	TG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	19703993
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Luciferase reporter assay, Western blot	18381893
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Luciferase reporter assay, Western blot	18381893
MIRT002480	hsa-miR-200a-3p	Review	19574400
MIRT002286	hsa-miR-200c-3p	Review	19574400
MIRT002483	hsa-miR-200b-3p	Review	19574400
MIRT000317	hsa-miR-141-3p	Luciferase reporter assay	19854497
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay	18829540
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay	19854497
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay	18829540
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay	19839049
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay	19854497
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay	19839049
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay	19854497
MIRT001743	hsa-miR-429	Luciferase reporter assay	18829540
MIRT001743	hsa-miR-429	Luciferase reporter assay	19854497
MIRT002480	hsa-miR-200a-3p	qRT-PCR	19854497
MIRT002483	hsa-miR-200b-3p	qRT-PCR	19854497
MIRT001743	hsa-miR-429	intrarenal expression	19910931
MIRT002286	hsa-miR-200c-3p	immunoblot, Luciferase reporter assay, qRT-PCR	20049172
MIRT001743	hsa-miR-429	Review	20130964
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR	19854497
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR	19854497
MIRT002286	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	18483486
MIRT002286	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	18483486
MIRT002286	hsa-miR-200c-3p	qRT-PCR	19502803
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT001743	hsa-miR-429	Luciferase reporter assay, qRT-PCR	18411277
MIRT000317	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002478	hsa-miR-205-5p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT002286	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21224848
MIRT002286	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	21294122
MIRT002480	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21049046
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	21049046
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21049046
MIRT002480	hsa-miR-200a-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002483	hsa-miR-200b-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002286	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	21389093
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	21389093
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	21389093
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	21874049
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	21874049
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	21867514
MIRT002480	hsa-miR-200a-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002483	hsa-miR-200b-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002286	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	21389093
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	21389093
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	21389093
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	21874049
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	21874049
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	21867514
MIRT002286	hsa-miR-200c-3p	GFP reporter assay, qRT-PCR	16929162
MIRT002480	hsa-miR-200a-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002483	hsa-miR-200b-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002286	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	21389093
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	21389093
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	21389093
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	21874049
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	21874049
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	21867514
MIRT002286	hsa-miR-200c-3p	GFP reporter assay, qRT-PCR	16929162
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22569286
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	22407310
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	22407310
MIRT006984	hsa-miR-150-5p	Luciferase reporter assay, qRT-PCR, Western blot	23013135
MIRT007059	hsa-miR-130b-3p	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	22847613
MIRT001743	hsa-miR-429	Reporter assay	18411277
MIRT018433	hsa-miR-335-5p	Microarray	18185580
MIRT002480	hsa-miR-200a-3p	Reporter assay	18411277
MIRT002480	hsa-miR-200a-3p	Reporter assay	18381893
MIRT002286	hsa-miR-200c-3p	Western blot	20049172
MIRT002286	hsa-miR-200c-3p	qRT-PCR;Other	19502803
MIRT002286	hsa-miR-200c-3p	Reporter assay	18381893
MIRT000317	hsa-miR-141-3p	qRT-PCR;Other	19502803
MIRT002483	hsa-miR-200b-3p	Reporter assay	18411277
MIRT002478	hsa-miR-205-5p	qRT-PCR;Other	19502803
MIRT002286	hsa-miR-200c-3p	CLASH	23622248
MIRT002483	hsa-miR-200b-3p	qRT-PCR	22294131
MIRT002483	hsa-miR-200b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22247255
MIRT002286	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22247255
MIRT001743	hsa-miR-429	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22247255
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	22735571
MIRT053160	hsa-miR-101-3p	Immunofluorescence, Luciferase reporter assay, Western blot	24677166
MIRT053244	hsa-miR-23b-3p	Luciferase reporter assay, Western blot	23844063
MIRT002286	hsa-miR-200c-3p	In situ hybridization, qRT-PCR, Western blot	22012804
MIRT000317	hsa-miR-141-3p	In situ hybridization, qRT-PCR, Western blot	22012804
MIRT053387	hsa-miR-591	Luciferase reporter assay, Western blot	23807165
MIRT053387	hsa-miR-591	Luciferase reporter assay, Western blot	23807165
MIRT053407	hsa-miR-629-5p	Microarray	23807165
MIRT053387	hsa-miR-591	Microarray	23807165
MIRT053444	hsa-miR-203a-3p	Microarray	23807165
MIRT002286	hsa-miR-200c-3p	Microarray	23807165
MIRT053515	hsa-miR-494-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23105110
MIRT053516	hsa-miR-539-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23105110
MIRT002480	hsa-miR-200a-3p	Immunofluorescence, Immunohistochemistry, In situ hybridization, qRT-PCR, Western blot	23381389
MIRT002478	hsa-miR-205-5p	Western blot	22555458
MIRT002286	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, QRTPCR	23497265
MIRT002483	hsa-miR-200b-3p	Immunohistochemistry, Microarray, qRT-PCR, Western blot	25411357
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT000317	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT000317	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT054485	hsa-miR-655-3p	Luciferase reporter assay/Western blot, qRT-PCR	23690952
MIRT054485	hsa-miR-655-3p	Luciferase reporter assay/Western blot, qRT-PCR	23690952
MIRT054560	hsa-miR-1236-3p	Luciferase reporter assay, qRT-PCR, Western blot	24573236
MIRT054560	hsa-miR-1236-3p	Luciferase reporter assay, qRT-PCR, Western blot	24573236
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24615544
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24615544
MIRT054653	hsa-miR-183-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	24277930
MIRT054654	hsa-miR-96-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	24277930
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay	23318420
MIRT002286	hsa-miR-200c-3p	Luciferase reporter assay	23318420
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	23754305
MIRT002478	hsa-miR-205-5p	ChIP-seq, LacZ reporter assay	23474752
MIRT002478	hsa-miR-205-5p	ChIP-seq, LacZ reporter assay	23474752
MIRT002478	hsa-miR-205-5p	ChIP-seq, LacZ reporter assay	23474752
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23408168
MIRT002286	hsa-miR-200c-3p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT002286	hsa-miR-200c-3p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT002286	hsa-miR-200c-3p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT006984	hsa-miR-150-5p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT006984	hsa-miR-150-5p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT002286	hsa-miR-200c-3p	Flow, qRT-PCR, Western blot	23869586
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	24127332
MIRT437940	hsa-miR-142-5p	qRT-PCR, Luciferase reporter assay	23342264
MIRT437940	hsa-miR-142-5p	qRT-PCR, Luciferase reporter assay	23342264
MIRT002286	hsa-miR-200c-3p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT002286	hsa-miR-200c-3p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT002286	hsa-miR-200c-3p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT006984	hsa-miR-150-5p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT006984	hsa-miR-150-5p	ChIP-seq, Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23765923
MIRT002286	hsa-miR-200c-3p	Flow, qRT-PCR, Western blot	23869586
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT002480	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	24127332
MIRT437940	hsa-miR-142-5p	qRT-PCR, Luciferase reporter assay	23342264
MIRT437940	hsa-miR-142-5p	qRT-PCR, Luciferase reporter assay	23342264
MIRT607026	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607025	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT607024	hsa-miR-147a	HITS-CLIP	24906430
MIRT607023	hsa-miR-2113	HITS-CLIP	24906430
MIRT607022	hsa-miR-5010-3p	HITS-CLIP	24906430
MIRT607021	hsa-miR-4455	HITS-CLIP	24906430
MIRT607020	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607026	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607025	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT607024	hsa-miR-147a	HITS-CLIP	24906430
MIRT607023	hsa-miR-2113	HITS-CLIP	24906430
MIRT607022	hsa-miR-5010-3p	HITS-CLIP	24906430
MIRT607021	hsa-miR-4455	HITS-CLIP	24906430
MIRT607020	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT002478	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT002478	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT731591	hsa-miR-133a-3p	Luciferase reporter assay	26902265
MIRT731591	hsa-miR-133a-3p	Luciferase reporter assay	26902265
MIRT000317	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	26160158
MIRT731796	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27785072
MIRT731796	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27785072
MIRT002483	hsa-miR-200b-3p	qRT-PCR, Western blot	28028835
MIRT001743	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	26472725
MIRT001743	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	26472725
MIRT002483	hsa-miR-200b-3p	Western blot	27373709
MIRT732321	hsa-miR-590-3p	Luciferase reporter assay, qRT-PCR, Western blot	26556542
MIRT732321	hsa-miR-590-3p	Luciferase reporter assay, qRT-PCR, Western blot	26556542
MIRT002478	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	27082508
MIRT002478	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	27082508
MIRT053160	hsa-miR-101-3p	Microarray	28416776
MIRT053160	hsa-miR-101-3p	Microarray	28416776
MIRT053160	hsa-miR-101-3p	Microarray	28416776
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	27930974
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	27930974
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	27930974
MIRT002286	hsa-miR-200c-3p	qRT-PCR, Western blot	27930974
MIRT053160	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	28109909
MIRT002286	hsa-miR-200c-3p	Immunofluorescence, Immunohistochemistry, Immunoprecipitaion, qRT-PCR, Western blot	28334634
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27307751
MIRT002483	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27307751
MIRT053160	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27429852
MIRT607024	hsa-miR-147a	HITS-CLIP	27418678
MIRT607024	hsa-miR-147a	HITS-CLIP	27418678
MIRT607024	hsa-miR-147a	HITS-CLIP	27418678
MIRT607023	hsa-miR-2113	HITS-CLIP	27418678
MIRT607023	hsa-miR-2113	HITS-CLIP	27418678
MIRT607023	hsa-miR-2113	HITS-CLIP	27418678
MIRT607021	hsa-miR-4455	HITS-CLIP	27418678
MIRT607021	hsa-miR-4455	HITS-CLIP	27418678
MIRT607022	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT607022	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT607022	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT607020	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607020	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607020	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607025	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT607025	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT607025	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT607026	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607026	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607026	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT733126	hsa-miR-34a-3p	Microarray, qRT-PCR, Western blotting	34102608
MIRT733126	hsa-miR-34a-3p	Microarray, qRT-PCR, Western blotting	34102608
MIRT054485	hsa-miR-655-3p	Immunofluorescence, Immunohistochemistry (IHC), Luciferase reporter assay	33902589
MIRT003137	hsa-miR-200c-3p	Immunocytochemistry (ICC), Western blotting	33045679
MIRT003141	hsa-miR-200a-3p	qRT-PCR	31734859
MIRT734548	hsa-miR-96-3p	Immunohistochemistry (IHC), RNA-seq	33318051
MIRT734647	hsa-miR-199b-5p	Luciferase reporter assay, qRT-PCR	31705138
MIRT003141	hsa-miR-200a-3p	qRT-PCR, ELISA	32691634
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT736295	hsa-miR-326	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	33913391
MIRT003139	hsa-miR-200b-3p	Western blotting, qRT-PCR	34018840
MIRT735876	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, In situ hybridization	32641995
MIRT001743	hsa-miR-429	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	32306838
MIRT737471	hsa-miR-639	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	31843451
MIRT755678	hsa-miR-142-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), in vitro cullelar assays, Flow cytometry	37403081
MIRT006984	hsa-miR-150-5p	Luciferase reporter assay, qRT-PCR	35402187
MIRT002483	hsa-miR-200b-3p	Western blotting, qRT-PCR	37681509
MIRT1509239	hsa-miR-101	CLIP-seq
MIRT1509240	hsa-miR-144	CLIP-seq
MIRT1509241	hsa-miR-3617	CLIP-seq
MIRT1509242	hsa-miR-4464	CLIP-seq
MIRT1509243	hsa-miR-4684-3p	CLIP-seq
MIRT1509244	hsa-miR-4709-3p	CLIP-seq
MIRT1509245	hsa-miR-4748	CLIP-seq
MIRT1509246	hsa-miR-4755-3p	CLIP-seq
MIRT1509247	hsa-miR-641	CLIP-seq
MIRT1509248	hsa-miR-297	CLIP-seq
MIRT1509249	hsa-miR-300	CLIP-seq
MIRT1509250	hsa-miR-381	CLIP-seq
MIRT1509251	hsa-miR-3929	CLIP-seq
MIRT1509252	hsa-miR-4419b	CLIP-seq
MIRT1509253	hsa-miR-4478	CLIP-seq
MIRT1509254	hsa-miR-584	CLIP-seq
MIRT1509249	hsa-miR-300	CLIP-seq
MIRT2153390	hsa-miR-3662	CLIP-seq
MIRT1509250	hsa-miR-381	CLIP-seq
MIRT2153391	hsa-miR-4282	CLIP-seq
MIRT2373668	hsa-miR-105	CLIP-seq
MIRT2373669	hsa-miR-147	CLIP-seq
MIRT1509249	hsa-miR-300	CLIP-seq
MIRT2373670	hsa-miR-3065-5p	CLIP-seq
MIRT1509250	hsa-miR-381	CLIP-seq
MIRT2373671	hsa-miR-4803	CLIP-seq
MIRT2373672	hsa-miR-599	CLIP-seq
MIRT2695631	hsa-miR-141	CLIP-seq
MIRT2695632	hsa-miR-200a	CLIP-seq
MIRT2695633	hsa-miR-3161	CLIP-seq
MIRT2695634	hsa-miR-3163	CLIP-seq
MIRT2695635	hsa-miR-340	CLIP-seq
MIRT2695636	hsa-miR-3682-3p	CLIP-seq
MIRT2153391	hsa-miR-4282	CLIP-seq
MIRT2695637	hsa-miR-4307	CLIP-seq
MIRT2695638	hsa-miR-448	CLIP-seq
MIRT2695639	hsa-miR-4502	CLIP-seq
MIRT2695640	hsa-miR-4662a-3p	CLIP-seq
MIRT2695641	hsa-miR-4735-5p	CLIP-seq
MIRT2695642	hsa-miR-4762-3p	CLIP-seq
MIRT2695643	hsa-miR-516a-3p	CLIP-seq
MIRT2695644	hsa-miR-577	CLIP-seq
MIRT2695645	hsa-miR-626	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Unknown	16804902
ERG	Unknown	21747944
ESR1	Activation	22391641
GATA3	Activation	20731704
KAT2B	Repression	22384255
LMO2	Repression	20731704
PCGF2	Repression	23474752
SALL4	Activation	23954296

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23765923, 23814079
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	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	23765923, 23814079
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8138542
GO:0005515	Function	Protein binding	IPI	20418909
GO:0005634	Component	Nucleus	IDA	20418909, 23814079, 25190660
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	TAS	8138542
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030154	Process	Cell differentiation	IEA
GO:0045602	Process	Negative regulation of endothelial cell differentiation	IMP	23765923
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	20418909
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	12937339
GO:0048856	Process	Anatomical structure development	IBA	21873635
GO:0070888	Function	E-box binding	ISS

Other IDs

• MIM: 189909
• HGNC: 11642
• e!Ensembl: ENSG00000148516

Protein

• UniProt ID: P37275
• Protein name: Zinc finger E-box-binding homeobox 1 (NIL-2-A zinc finger protein) (Negative regulator of IL2) (Transcription factor 8) (TCF-8)
• Protein function: Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces
• PDB: 2E19
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05605	zf-Di19	168 → 224	Drought induced 19 protein (Di19), zinc-binding	Domain
  PF00096	zf-C2H2	240 → 262	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	268 → 289	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	932 → 954	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	960 → 981	Zinc finger, C2H2 type	Domain

• Sequence:

  MADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDD
  LPTDQTVLPGRSSEREGNAKNCWEDDRKEGQEILGPEAQADEAGCTVKDDECESDAENEQ
  NHDPNVEEFLQQQDTAVIFPEAPEEDQRQGTPEASGHDENGTPDAFSQLLTCPYCDRGYK
  RFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGRDQRHVTQSGCNRKF
  KCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNG
  RPRTGLKTSQCSSPSLSASPGSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVV
  ASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAVVLPTVGLVSPISINLSDIQNVLKVAV
  DGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKIIINYSLE
  QPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGD
  INALPELKHYDLKQPTQPPPLPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYY
  ALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQAGQISVQSSEPSSPEPGKVNIPAKNND
  QPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSRNTQGYL
  YTAEGAQEEPQVEPLDLSLPKQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKD
  SCVTDSEPVVNVIPPSANPINIAIPTVTAQLPTIVAIADQNSVPCLRALAANKQTILIPQ
  VAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTSSEGVSNVEDQNDSDSTPPKKKMRKTE
  NGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLHSGEKPY
  QCDKCGKRFSHSGSYSQHMNHRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQG
  DSDERESLTREEDEDSEKEEEEEDKEMEELQEEKECEKPQGDEEEEEEEEEVEEEEVEEA
  ENEGEEAKTEGLMKDDRAESQASSLGQKVGESSEQVSEEKTNEA

• Sequence length: 1124

Pathways

KEGG:

Transcriptional misregulation in cancer
MicroRNAs in cancer
Prostate cancer

Reactome:

Interleukin-4 and Interleukin-13 signaling

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	21501481, 19839049
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	19839049, 21501481
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Corneal endothelial dystrophy	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	rs267607064, rs1600618680, rs80358191, rs80358192, rs727504229	16252232, 25190660, 20036349, 23599324
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	18622689
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Keratitis	Keratitis	rs587776571
Lymphoma	Lymphoma, T-Cell, Cutaneous	rs11540652, rs1592119138, rs1592123162, rs1599367044	26192916
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	19839049, 21501481
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	18622689
Papillary thyroid carcinoma	Papillary thyroid carcinoma	rs751409106	28030816
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy	rs1592143384, rs2139794959, rs869320627, rs869320628, rs869320629, rs869320630	25441224, 23807282
Sezary syndrome	Sezary Syndrome	rs587776632	26551670
Thyroid cancer	Familial Nonmedullary Thyroid Cancer	rs119486096, rs104894171, rs28933406, rs11554290, rs121913364, rs797044990, rs1564566774, rs200989342	28030816

Unknown
Disease name	Disease term	dbSNP ID	References
Nonmedullary thyroid carcinoma	Nonmedullary Thyroid Carcinoma		28030816
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		21501481, 19839049, 19839049, 21501481
Corneal dystrophy posterior polymorphous	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)		20036349, 16252232
Corneal guttata	Corneal guttata
Endometrial neoplasms	Endometrial Neoplasms		18622689
Fuchs endothelial dystrophy	Fuchs Endothelial Dystrophy, Fuchs endothelial corneal dystrophy		20036349
Granulomatous slack skin	Granulomatous Slack Skin		26192916
Myocardial ischemia	Myocardial Ischemia		16214533
Oral submucous fibrosis	Oral Submucous Fibrosis		26934322
Ovarian neoplasm	ovarian neoplasm		18622689