SUZ12 (SUZ12 polycomb repressive complex 2 subunit)

Gene

• Entrez ID: 23512
• Gene name: SUZ12 polycomb repressive complex 2 subunit
• Gene symbol: SUZ12
• Synonyms (NCBI Gene): CHET9, IMMAS, JJAZ1
• Disease Acronyms (UniProt): IMMAS
• Chromosome: 17
• Chromosome location: 17q11.2
• Summary: This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs771704089	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1131692177	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1242271427	G>A	Pathogenic	Splice donor variant
rs1567840381	A>C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567840389	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1598143986	TTAC>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1598174225	GC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1598192095	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004084	hsa-miR-101-3p	Western blot	19008416
MIRT007118	hsa-miR-19a-3p	Luciferase reporter assay	23451058
MIRT019780	hsa-miR-375	Microarray	20215506
MIRT020638	hsa-miR-155-5p	Proteomics	18668040
MIRT021690	hsa-miR-138-5p	Western blot;qRT-PCR	21770894
MIRT030783	hsa-miR-21-5p	Microarray	18591254
MIRT051542	hsa-let-7e-5p	CLASH	23622248
MIRT047882	hsa-miR-30c-5p	CLASH	23622248
MIRT053349	hsa-miR-128-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23733246
MIRT053349	hsa-miR-128-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23733246
MIRT053529	hsa-miR-200b-3p	ChIP-seq, Flow, Luciferase reporter assay, Western blot	23735840
MIRT437850	hsa-miR-487b-3p	ChIP-seq, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23426183
MIRT437850	hsa-miR-487b-3p	ChIP-seq, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23426183
MIRT053529	hsa-miR-200b-3p	Luciferase reporter assay	24169343
MIRT438202	hsa-miR-200c-3p	Luciferase reporter assay	24169343
MIRT053529	hsa-miR-200b-3p	Luciferase reporter assay	24169343
MIRT438202	hsa-miR-200c-3p	Luciferase reporter assay	24169343
MIRT466782	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT466781	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT053349	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT466780	hsa-miR-140-3p	PAR-CLIP	21572407
MIRT076823	hsa-miR-548ac	PAR-CLIP	21572407
MIRT076829	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT076816	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT076817	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT076821	hsa-miR-548z	PAR-CLIP	21572407
MIRT466779	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT466778	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT466777	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT466776	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT466775	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT466774	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT466773	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT076814	hsa-miR-571	PAR-CLIP	21572407
MIRT466772	hsa-miR-423-3p	PAR-CLIP	21572407
MIRT076828	hsa-miR-6505-5p	PAR-CLIP	21572407
MIRT242509	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT242505	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT242508	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT242515	hsa-miR-520b	PAR-CLIP	22012620
MIRT242506	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT242507	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT242513	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT242510	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT242516	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT242517	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT242511	hsa-miR-520e	PAR-CLIP	22012620
MIRT242519	hsa-miR-302e	PAR-CLIP	22012620
MIRT534001	hsa-miR-4426	PAR-CLIP	22012620
MIRT534000	hsa-miR-4647	PAR-CLIP	22012620
MIRT533999	hsa-miR-4662b	PAR-CLIP	22012620
MIRT533998	hsa-miR-141-5p	PAR-CLIP	22012620
MIRT533997	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT533996	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT533995	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT533994	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT533993	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT533992	hsa-miR-942-5p	PAR-CLIP	22012620
MIRT242520	hsa-miR-3185	PAR-CLIP	22012620
MIRT533991	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT533990	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT466782	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT466781	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT053349	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT466780	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT076823	hsa-miR-548ac	PAR-CLIP	23592263
MIRT076829	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT076816	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT076817	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT076821	hsa-miR-548z	PAR-CLIP	23592263
MIRT466779	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT466778	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT466777	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT466776	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT466775	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT466774	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT466773	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT076814	hsa-miR-571	PAR-CLIP	23592263
MIRT466772	hsa-miR-423-3p	PAR-CLIP	23592263
MIRT076828	hsa-miR-6505-5p	PAR-CLIP	23592263
MIRT007118	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT145511	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT731794	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	27582550
MIRT731794	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	27582550
MIRT734847	hsa-miR-200a-3p	RNA-seq, qRT-PCR, Flow cytometry	33541373
MIRT438205	hsa-miR-200b-3p	RNA-seq, qRT-PCR, Flow cytometry	33541373
MIRT438202	hsa-miR-200c-3p	RNA-seq, qRT-PCR, Flow cytometry	33541373
MIRT736043	hsa-miR-362-5p	Western blotting, qRT-PCR	31423228
MIRT466782	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT466781	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT053349	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT466780	hsa-miR-140-3p	PAR-CLIP	21572407
MIRT076823	hsa-miR-548ac	PAR-CLIP	21572407
MIRT076829	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT076816	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT076817	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT076821	hsa-miR-548z	PAR-CLIP	21572407
MIRT466779	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT466778	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT466777	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT466776	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT466775	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT466774	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT466773	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT076814	hsa-miR-571	PAR-CLIP	21572407
MIRT466772	hsa-miR-423-3p	PAR-CLIP	21572407
MIRT076828	hsa-miR-6505-5p	PAR-CLIP	21572407
MIRT242509	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT242505	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT242508	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT242515	hsa-miR-520b	PAR-CLIP	22012620
MIRT242506	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT242507	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT242513	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT242510	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT242516	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT242517	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT242511	hsa-miR-520e	PAR-CLIP	22012620
MIRT242519	hsa-miR-302e	PAR-CLIP	22012620
MIRT534001	hsa-miR-4426	PAR-CLIP	22012620
MIRT534000	hsa-miR-4647	PAR-CLIP	22012620
MIRT533999	hsa-miR-4662b	PAR-CLIP	22012620
MIRT533998	hsa-miR-141-5p	PAR-CLIP	22012620
MIRT533997	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT533996	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT533995	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT533994	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT533993	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT533992	hsa-miR-942-5p	PAR-CLIP	22012620
MIRT242520	hsa-miR-3185	PAR-CLIP	22012620
MIRT533991	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT533990	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT466782	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT466781	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT053349	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT466780	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT076823	hsa-miR-548ac	PAR-CLIP	23592263
MIRT076829	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT076816	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT076817	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT076821	hsa-miR-548z	PAR-CLIP	23592263
MIRT466779	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT466778	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT466777	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT466776	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT466775	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT466774	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT466773	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT076814	hsa-miR-571	PAR-CLIP	23592263
MIRT466772	hsa-miR-423-3p	PAR-CLIP	23592263
MIRT076828	hsa-miR-6505-5p	PAR-CLIP	23592263
MIRT1404394	hsa-miR-103a	CLIP-seq
MIRT1404395	hsa-miR-105	CLIP-seq
MIRT1404396	hsa-miR-107	CLIP-seq
MIRT1404397	hsa-miR-1183	CLIP-seq
MIRT1404398	hsa-miR-1248	CLIP-seq
MIRT1404399	hsa-miR-128	CLIP-seq
MIRT1404400	hsa-miR-15a	CLIP-seq
MIRT1404401	hsa-miR-15b	CLIP-seq
MIRT1404402	hsa-miR-16	CLIP-seq
MIRT1404403	hsa-miR-186	CLIP-seq
MIRT1404404	hsa-miR-195	CLIP-seq
MIRT1404405	hsa-miR-19a	CLIP-seq
MIRT1404406	hsa-miR-19b	CLIP-seq
MIRT1404407	hsa-miR-2113	CLIP-seq
MIRT1404408	hsa-miR-27a	CLIP-seq
MIRT1404409	hsa-miR-27b	CLIP-seq
MIRT1404410	hsa-miR-28-3p	CLIP-seq
MIRT1404411	hsa-miR-3120-3p	CLIP-seq
MIRT1404412	hsa-miR-3121-3p	CLIP-seq
MIRT1404413	hsa-miR-3133	CLIP-seq
MIRT1404414	hsa-miR-3146	CLIP-seq
MIRT1404415	hsa-miR-3170	CLIP-seq
MIRT1404416	hsa-miR-340	CLIP-seq
MIRT1404417	hsa-miR-342-5p	CLIP-seq
MIRT1404418	hsa-miR-3614-3p	CLIP-seq
MIRT1404419	hsa-miR-3647-3p	CLIP-seq
MIRT1404420	hsa-miR-3671	CLIP-seq
MIRT1404421	hsa-miR-424	CLIP-seq
MIRT1404422	hsa-miR-4260	CLIP-seq
MIRT1404423	hsa-miR-4310	CLIP-seq
MIRT1404424	hsa-miR-4477b	CLIP-seq
MIRT1404425	hsa-miR-4503	CLIP-seq
MIRT1404426	hsa-miR-4517	CLIP-seq
MIRT1404427	hsa-miR-4651	CLIP-seq
MIRT1404428	hsa-miR-4664-5p	CLIP-seq
MIRT1404429	hsa-miR-4680-3p	CLIP-seq
MIRT1404430	hsa-miR-4699-3p	CLIP-seq
MIRT1404431	hsa-miR-4735-5p	CLIP-seq
MIRT1404432	hsa-miR-4740-3p	CLIP-seq
MIRT1404433	hsa-miR-4742-3p	CLIP-seq
MIRT1404434	hsa-miR-4762-5p	CLIP-seq
MIRT1404435	hsa-miR-4775	CLIP-seq
MIRT1404436	hsa-miR-497	CLIP-seq
MIRT1404437	hsa-miR-501-5p	CLIP-seq
MIRT1404438	hsa-miR-520a-5p	CLIP-seq
MIRT1404439	hsa-miR-525-5p	CLIP-seq
MIRT1404440	hsa-miR-548c-3p	CLIP-seq
MIRT1404441	hsa-miR-548g	CLIP-seq
MIRT1404442	hsa-miR-548u	CLIP-seq
MIRT1404443	hsa-miR-577	CLIP-seq
MIRT1404444	hsa-miR-590-3p	CLIP-seq
MIRT1404445	hsa-miR-607	CLIP-seq
MIRT1404446	hsa-miR-608	CLIP-seq
MIRT1404447	hsa-miR-621	CLIP-seq
MIRT1404448	hsa-miR-640	CLIP-seq
MIRT1404449	hsa-miR-759	CLIP-seq
MIRT1404398	hsa-miR-1248	CLIP-seq
MIRT2121356	hsa-miR-1267	CLIP-seq
MIRT2121357	hsa-miR-1270	CLIP-seq
MIRT1404399	hsa-miR-128	CLIP-seq
MIRT1404405	hsa-miR-19a	CLIP-seq
MIRT1404406	hsa-miR-19b	CLIP-seq
MIRT2121358	hsa-miR-21	CLIP-seq
MIRT1404408	hsa-miR-27a	CLIP-seq
MIRT1404409	hsa-miR-27b	CLIP-seq
MIRT1404412	hsa-miR-3121-3p	CLIP-seq
MIRT2121359	hsa-miR-3124-3p	CLIP-seq
MIRT1404416	hsa-miR-340	CLIP-seq
MIRT2121360	hsa-miR-4282	CLIP-seq
MIRT2121361	hsa-miR-4434	CLIP-seq
MIRT2121362	hsa-miR-4436b-5p	CLIP-seq
MIRT2121363	hsa-miR-4446-5p	CLIP-seq
MIRT2121364	hsa-miR-4516	CLIP-seq
MIRT2121365	hsa-miR-4531	CLIP-seq
MIRT2121366	hsa-miR-4652-3p	CLIP-seq
MIRT2121367	hsa-miR-4668-3p	CLIP-seq
MIRT1404430	hsa-miR-4699-3p	CLIP-seq
MIRT2121368	hsa-miR-4755-5p	CLIP-seq
MIRT1404434	hsa-miR-4762-5p	CLIP-seq
MIRT2121369	hsa-miR-513a-3p	CLIP-seq
MIRT1404440	hsa-miR-548c-3p	CLIP-seq
MIRT1404442	hsa-miR-548u	CLIP-seq
MIRT2121370	hsa-miR-590-5p	CLIP-seq
MIRT2121371	hsa-miR-620	CLIP-seq
MIRT2121372	hsa-miR-642a	CLIP-seq
MIRT2343315	hsa-miR-1179	CLIP-seq
MIRT1404397	hsa-miR-1183	CLIP-seq
MIRT2343316	hsa-miR-1208	CLIP-seq
MIRT2343317	hsa-miR-1243	CLIP-seq
MIRT2343318	hsa-miR-1255a	CLIP-seq
MIRT2343319	hsa-miR-1255b	CLIP-seq
MIRT2343320	hsa-miR-1261	CLIP-seq
MIRT2121357	hsa-miR-1270	CLIP-seq
MIRT1404399	hsa-miR-128	CLIP-seq
MIRT2343321	hsa-miR-1297	CLIP-seq
MIRT2343322	hsa-miR-200b	CLIP-seq
MIRT2343323	hsa-miR-200c	CLIP-seq
MIRT2121358	hsa-miR-21	CLIP-seq
MIRT2343324	hsa-miR-26a	CLIP-seq
MIRT2343325	hsa-miR-26b	CLIP-seq
MIRT2343326	hsa-miR-3065-5p	CLIP-seq
MIRT2121359	hsa-miR-3124-3p	CLIP-seq
MIRT2343327	hsa-miR-3136-5p	CLIP-seq
MIRT2343328	hsa-miR-3201	CLIP-seq
MIRT1404416	hsa-miR-340	CLIP-seq
MIRT2343329	hsa-miR-3654	CLIP-seq
MIRT2343330	hsa-miR-3662	CLIP-seq
MIRT2343331	hsa-miR-3675-3p	CLIP-seq
MIRT2343332	hsa-miR-374c	CLIP-seq
MIRT2343333	hsa-miR-3973	CLIP-seq
MIRT2343334	hsa-miR-429	CLIP-seq
MIRT2343335	hsa-miR-4420	CLIP-seq
MIRT2343336	hsa-miR-4439	CLIP-seq
MIRT2343337	hsa-miR-4465	CLIP-seq
MIRT2343338	hsa-miR-4511	CLIP-seq
MIRT2121365	hsa-miR-4531	CLIP-seq
MIRT2343339	hsa-miR-4698	CLIP-seq
MIRT1404430	hsa-miR-4699-3p	CLIP-seq
MIRT2343340	hsa-miR-4762-3p	CLIP-seq
MIRT2343341	hsa-miR-4791	CLIP-seq
MIRT2343342	hsa-miR-502-5p	CLIP-seq
MIRT2343343	hsa-miR-505	CLIP-seq
MIRT2121369	hsa-miR-513a-3p	CLIP-seq
MIRT2343344	hsa-miR-520g	CLIP-seq
MIRT2343345	hsa-miR-520h	CLIP-seq
MIRT2343346	hsa-miR-548b-3p	CLIP-seq
MIRT1404440	hsa-miR-548c-3p	CLIP-seq
MIRT2343347	hsa-miR-561	CLIP-seq
MIRT2121370	hsa-miR-590-5p	CLIP-seq
MIRT2121371	hsa-miR-620	CLIP-seq
MIRT2343348	hsa-miR-653	CLIP-seq
MIRT2343349	hsa-miR-655	CLIP-seq
MIRT2343350	hsa-miR-664	CLIP-seq
MIRT1404449	hsa-miR-759	CLIP-seq
MIRT2343351	hsa-miR-943	CLIP-seq
MIRT1404399	hsa-miR-128	CLIP-seq
MIRT1404408	hsa-miR-27a	CLIP-seq
MIRT1404409	hsa-miR-27b	CLIP-seq
MIRT2433747	hsa-miR-455-5p	CLIP-seq
MIRT1404430	hsa-miR-4699-3p	CLIP-seq
MIRT1404434	hsa-miR-4762-5p	CLIP-seq
MIRT2433748	hsa-miR-4766-3p	CLIP-seq
MIRT2433749	hsa-miR-548p	CLIP-seq
MIRT1404442	hsa-miR-548u	CLIP-seq
MIRT1404395	hsa-miR-105	CLIP-seq
MIRT2637030	hsa-miR-132	CLIP-seq
MIRT2637031	hsa-miR-203	CLIP-seq
MIRT2637032	hsa-miR-212	CLIP-seq
MIRT2637033	hsa-miR-216a	CLIP-seq
MIRT2637034	hsa-miR-2355-3p	CLIP-seq
MIRT2343326	hsa-miR-3065-5p	CLIP-seq
MIRT2121359	hsa-miR-3124-3p	CLIP-seq
MIRT2637035	hsa-miR-3125	CLIP-seq
MIRT2637036	hsa-miR-3189-3p	CLIP-seq
MIRT2637037	hsa-miR-3605-5p	CLIP-seq
MIRT1404419	hsa-miR-3647-3p	CLIP-seq
MIRT2343330	hsa-miR-3662	CLIP-seq
MIRT2637038	hsa-miR-3682-5p	CLIP-seq
MIRT2637039	hsa-miR-371-5p	CLIP-seq
MIRT2637040	hsa-miR-380	CLIP-seq
MIRT2637041	hsa-miR-3913-3p	CLIP-seq
MIRT2637042	hsa-miR-3916	CLIP-seq
MIRT2637043	hsa-miR-3938	CLIP-seq
MIRT2637044	hsa-miR-421	CLIP-seq
MIRT2637045	hsa-miR-4276	CLIP-seq
MIRT2121360	hsa-miR-4282	CLIP-seq
MIRT2637046	hsa-miR-4302	CLIP-seq
MIRT2637047	hsa-miR-4452	CLIP-seq
MIRT2637048	hsa-miR-450b-5p	CLIP-seq
MIRT2637049	hsa-miR-4646-3p	CLIP-seq
MIRT2121367	hsa-miR-4668-3p	CLIP-seq
MIRT1404430	hsa-miR-4699-3p	CLIP-seq
MIRT2637050	hsa-miR-4709-5p	CLIP-seq
MIRT2637051	hsa-miR-4729	CLIP-seq
MIRT1404431	hsa-miR-4735-5p	CLIP-seq
MIRT1404435	hsa-miR-4775	CLIP-seq
MIRT2637052	hsa-miR-4803	CLIP-seq
MIRT2637053	hsa-miR-489	CLIP-seq
MIRT2637054	hsa-miR-500b	CLIP-seq
MIRT1404437	hsa-miR-501-5p	CLIP-seq
MIRT2343342	hsa-miR-502-5p	CLIP-seq
MIRT2343343	hsa-miR-505	CLIP-seq
MIRT2637055	hsa-miR-513c	CLIP-seq
MIRT2637056	hsa-miR-515-3p	CLIP-seq
MIRT2637057	hsa-miR-519e	CLIP-seq
MIRT2637058	hsa-miR-548ae	CLIP-seq
MIRT2637059	hsa-miR-548aj	CLIP-seq
MIRT2637060	hsa-miR-548am	CLIP-seq
MIRT2637061	hsa-miR-548x	CLIP-seq
MIRT2637062	hsa-miR-550a	CLIP-seq
MIRT2637063	hsa-miR-556-3p	CLIP-seq
MIRT2343347	hsa-miR-561	CLIP-seq
MIRT1404444	hsa-miR-590-3p	CLIP-seq
MIRT2343348	hsa-miR-653	CLIP-seq
MIRT2637064	hsa-miR-877	CLIP-seq
MIRT2637065	hsa-miR-888	CLIP-seq
MIRT2637066	hsa-miR-889	CLIP-seq
MIRT2637067	hsa-miR-942	CLIP-seq
MIRT1404395	hsa-miR-105	CLIP-seq
MIRT2637030	hsa-miR-132	CLIP-seq
MIRT2637031	hsa-miR-203	CLIP-seq
MIRT2637032	hsa-miR-212	CLIP-seq
MIRT2637033	hsa-miR-216a	CLIP-seq
MIRT2692450	hsa-miR-302a	CLIP-seq
MIRT2692451	hsa-miR-302b	CLIP-seq
MIRT2692452	hsa-miR-302c	CLIP-seq
MIRT2692453	hsa-miR-302d	CLIP-seq
MIRT2343326	hsa-miR-3065-5p	CLIP-seq
MIRT2121359	hsa-miR-3124-3p	CLIP-seq
MIRT2637036	hsa-miR-3189-3p	CLIP-seq
MIRT2692454	hsa-miR-3617	CLIP-seq
MIRT1404419	hsa-miR-3647-3p	CLIP-seq
MIRT2637038	hsa-miR-3682-5p	CLIP-seq
MIRT2637039	hsa-miR-371-5p	CLIP-seq
MIRT2692455	hsa-miR-372	CLIP-seq
MIRT2692456	hsa-miR-373	CLIP-seq
MIRT2637041	hsa-miR-3913-3p	CLIP-seq
MIRT2121360	hsa-miR-4282	CLIP-seq
MIRT2637048	hsa-miR-450b-5p	CLIP-seq
MIRT2121367	hsa-miR-4668-3p	CLIP-seq
MIRT1404430	hsa-miR-4699-3p	CLIP-seq
MIRT2637051	hsa-miR-4729	CLIP-seq
MIRT1404431	hsa-miR-4735-5p	CLIP-seq
MIRT1404435	hsa-miR-4775	CLIP-seq
MIRT2637053	hsa-miR-489	CLIP-seq
MIRT2637054	hsa-miR-500b	CLIP-seq
MIRT1404437	hsa-miR-501-5p	CLIP-seq
MIRT2343342	hsa-miR-502-5p	CLIP-seq
MIRT2343343	hsa-miR-505	CLIP-seq
MIRT2637055	hsa-miR-513c	CLIP-seq
MIRT2637056	hsa-miR-515-3p	CLIP-seq
MIRT2692457	hsa-miR-518a-5p	CLIP-seq
MIRT2637057	hsa-miR-519e	CLIP-seq
MIRT2692458	hsa-miR-527	CLIP-seq
MIRT2637058	hsa-miR-548ae	CLIP-seq
MIRT2637059	hsa-miR-548aj	CLIP-seq
MIRT2637060	hsa-miR-548am	CLIP-seq
MIRT2637061	hsa-miR-548x	CLIP-seq
MIRT2637062	hsa-miR-550a	CLIP-seq
MIRT1404444	hsa-miR-590-3p	CLIP-seq
MIRT2692459	hsa-miR-641	CLIP-seq
MIRT2343348	hsa-miR-653	CLIP-seq
MIRT2637066	hsa-miR-889	CLIP-seq
MIRT2637067	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001226	Function	RNA polymerase II transcription corepressor binding	IPI	29628311
GO:0005515	Function	Protein binding	IPI	17560333, 19734898, 20075857, 20543829, 21078963, 22009739, 22439931, 23079660, 23104054, 23238014, 23455154, 23684459, 24183680, 24981860, 26496610, 27705803, 27728805, 28229514, 29628311, 29909548, 30923826
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0016604	Component	Nuclear body	IDA
GO:0021510	Process	Spinal cord development	IEA
GO:0031490	Function	Chromatin DNA binding	IBA	21873635
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032682	Process	Negative regulation of chemokine production	IEA
GO:0035064	Function	Methylated histone binding	IDA	21029866
GO:0035098	Component	ESC/E(Z) complex	IBA	21873635
GO:0035098	Component	ESC/E(Z) complex	IDA	20075857, 23104054, 23273982
GO:0035098	Component	ESC/E(Z) complex	IMP	15385962
GO:0042054	Function	Histone methyltransferase activity	IBA	21873635
GO:0042054	Function	Histone methyltransferase activity	IMP	15385962
GO:0042054	Function	Histone methyltransferase activity	IMP	28229514
GO:0042532	Process	Negative regulation of tyrosine phosphorylation of STAT protein	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IMP	19847889
GO:0045814	Process	Negative regulation of gene expression, epigenetic	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0046976	Function	Histone methyltransferase activity (H3-K27 specific)	IMP	28229514
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0070317	Process	Negative regulation of G0 to G1 transition	TAS
GO:0098532	Process	Histone H3-K27 trimethylation	IEA

Other IDs

• MIM: 606245
• HGNC: 17101
• e!Ensembl: ENSG00000178691

Protein

• UniProt ID: Q15022
• Protein name: Polycomb protein SUZ12 (Chromatin precipitated E2F target 9 protein) (ChET 9 protein) (Joined to JAZF1 protein) (Suppressor of zeste 12 protein homolog)
• Protein function: Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:15231737, PubMed:1538
• PDB: 4W2R, 5HYN, 5IJ7, 5IJ8, 5LS6, 5WAI, 5WAK, 5WG6, 6B3W, 6C23, 6C24, 6NQ3, 6WKR, 7AT8, 7KSO, 7KSR, 7KTP, 7TD5, 8EQV, 8FYH, 8T9G, 8TAS, 8TB9, 8VMI, 8VML, 8VNV, 8VNZ, 9C8U, 9DCH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09733	VEFS-Box	546 → 680	VEFS-Box of polycomb protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Overexpressed in breast and colon cancer. {ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15684044}.
• Sequence:

  MAPQKHGGGGGGGSGPSAGSGGGGFGGSAAVAAATASGGKSGGGSCGGGGSYSASSSSSA
  AAAAGAAVLPVKKPKMEHVQADHELFLQAFEKPTQIYRFLRTRNLIAPIFLHRTLTYMSH
  RNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQN
  SVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPS
  NSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMT
  VFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLR
  WTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPN
  ENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVY
  HPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASM
  SEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQI
  EEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHL
  VSMHDFNLISIMSIDKAVTKLREMQQKLEKGESASPANEEITEEQNGTANGFSEINSKEK
  ALETDSVSGVSKQSKKQKL

• Sequence length: 739

Pathways

KEGG:

Polycomb repressive complex

Reactome:

PRC2 methylates histones and DNA
Oxidative Stress Induced Senescence
PKMTs methylate histone lysines
SUMOylation of chromatin organization proteins
Regulation of PTEN gene transcription
Transcriptional Regulation by E2F6
HCMV Early Events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	31724824
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	18264096
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	25119042
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	25119042
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	25119042
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	31724824
Neurofibroma	neurofibroma	rs786202782, rs863224491, rs1555614011, rs1597851255, rs1597862012, rs1597715477, rs1597859854	25119042
Schwannomatosis	Schwannomatosis, Plexiform	rs121434496, rs587777180, rs189150283, rs1460026299, rs149850248, rs1555927561, rs148031742	25119042
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Weaver syndrome	Weaver syndrome	rs193921146, rs193921147, rs193921148, rs397515548, rs587783627, rs587783626, rs587783625, rs797045568, rs1060503430, rs1131692184, rs1563181659, rs1584862620, rs1584862929, rs1584875099, rs1584844589	28229514

Unknown
Disease term	Disease name	Evidence	References	Source
Weaver Syndrome	Weaver syndrome			GenCC
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenosarcoma	Associate	33838572
Anemia Aplastic	Associate	33166403
Brain Neoplasms	Associate	20920292
Breast Neoplasms	Associate	16766534, 24434785
Carcinogenesis	Associate	23735840, 34667274, 35649353
Carcinoma Hepatocellular	Associate	18753137
Carcinoma Merkel Cell	Associate	34667274
Carcinoma Non Small Cell Lung	Associate	24633887, 25833694
Cardiomyopathies	Associate	32620106
Cholangiocarcinoma	Associate	24089088
Colonic Neoplasms	Stimulate	11564866
Colorectal Neoplasms	Associate	15231737, 23001792, 25243792, 26567139, 30791232
Craniosynostoses	Associate	36982425
Depressive Disorder	Associate	28418861
Endometrial Stromal Tumors	Associate	11371647, 18077430, 35649353, 36731460
Esophageal Squamous Cell Carcinoma	Associate	32699215
GATA2 Deficiency	Associate	26337274
Heart Failure	Associate	32620106
Hemoglobinuria Paroxysmal	Associate	25244093
Huntington Disease	Associate	26636336, 33054835
Hypoxia	Stimulate	27303043
Hypoxia	Inhibit	37967992
Infratentorial Neoplasms	Associate	29909548
Iridogoniodysgenesis and skeletal anomalies	Associate	30019515
Leukemia	Associate	17560333, 22190018
Leukemia Large Granular Lymphocytic	Associate	37142644
Leukemia Lymphocytic Chronic B Cell	Associate	30038380
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26017281, 34784413
Leukemia Myeloid	Associate	22053108
Leukemia Myeloid Acute	Associate	22371884, 33166403, 35747989
Leukemia Myeloid Chronic Phase	Associate	26017281
Leukemia Neutrophilic Chronic	Associate	33166403
Lung Diseases	Associate	19536353
Lung Neoplasms	Associate	20558579
Lymphatic Metastasis	Stimulate	24633887
Lymphoma Follicular	Associate	19530241
Lymphoma Mantle Cell	Associate	20558579
Malignant mesenchymal tumor	Associate	32889887, 33986460
MASS syndrome	Associate	31615558
Melanoma	Associate	20558579
Michelin tire baby syndrome	Associate	30019515
Mitochondrial Diseases	Associate	30404791
Myelodysplastic Syndromes	Associate	22053108, 33166403
Myeloproliferative Disorders	Associate	26290261
Myocardial Infarction	Stimulate	37967992
Neoplasm Metastasis	Stimulate	24633887
Neoplasms	Associate	18077430, 18753137, 20558579, 22053108, 22190018, 23101500, 24633887, 25244093, 26429873, 26837964, 29482987, 31615558, 32317704, 32666581, 32889887, 34482403, 34667274, 34928964, 35852856, 37145209, 40500734
Neuroblastoma	Associate	29202477
Neurofibroma	Associate	37145209
Neurofibroma Plexiform	Stimulate	20844836
Neurofibromatosis 1	Associate	38008284
Neurofibrosarcoma	Associate	25240281, 25305755, 26585554, 26645727, 26990975, 28752843, 28762137, 29482987, 30291346, 32666581, 35852856, 37246765
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	33166403
Obesity	Associate	32555314
Perivascular Epithelioid Cell Neoplasms	Associate	34561551
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 30404791
Primary Myelofibrosis	Associate	22053108
Prostatic Neoplasms	Associate	15817459
Renal Insufficiency	Associate	33960101
Rhabdomyosarcoma	Associate	30120321
Sarcoma	Associate	18077430, 29415665, 34561551
Sarcoma Endometrial Stromal	Associate	22982899, 26429873, 31615558, 33838572, 34561551, 34928964, 35649353, 35710139, 36731460, 37406360
Simpson Golabi Behmel syndrome	Associate	30019515
Squamous Cell Carcinoma of Head and Neck	Associate	24076275, 31938073
Stomach Diseases	Associate	23735840
Stomach Neoplasms	Associate	23735840, 26837964
Triple Negative Breast Neoplasms	Associate	30295334
Uniparental Disomy	Associate	22053108
Urinary Bladder Neoplasms	Associate	18984978
Uterine Cervical Neoplasms	Associate	18753137
Uterine Neoplasms	Associate	31615558
Weaver Like Syndrome	Associate	30019515
Weaver syndrome	Associate	30019515
Wounds and Injuries	Inhibit	37967992