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
• 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:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0001739	Component	Sex chromatin	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17560333, 19734898, 20075857, 20543829, 21078963, 22009739, 22439931, 23104054, 23238014, 23684459, 24183680, 24981860, 26496610, 27705803, 27728805, 28229514, 29628311, 29909548, 30026490, 30923826, 33961781, 34591612, 35016035, 37553330
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005677	Component	Chromatin silencing complex	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0008047	Function	Enzyme activator activity	IMP	15385962, 28229514
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0016586	Component	RSC-type complex	IBA
GO:0016604	Component	Nuclear body	IDA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032993	Component	Protein-DNA complex	IEA
GO:0035098	Component	ESC/E(Z) complex	IBA
GO:0035098	Component	ESC/E(Z) complex	IDA	20075857, 23104054, 23273982
GO:0035098	Component	ESC/E(Z) complex	IEA
GO:0035098	Component	ESC/E(Z) complex	IMP	15385962
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IMP	19847889
GO:0046872	Function	Metal ion binding	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0060816	Process	Random inactivation of X chromosome	IEA
GO:0062072	Function	Histone H3K9me2/3 reader activity	IDA	21029866
GO:0106222	Function	LncRNA binding	IEA
GO:0140718	Process	Facultative heterochromatin formation	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990904	Component	Ribonucleoprotein complex	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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute megakaryoblastic leukemia in down syndrome	Likely pathogenic; Pathogenic	rs1909527513	RCV001293761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Imagawa-Matsumoto syndrome	Likely pathogenic; Pathogenic	rs2142215876, rs2142222219, rs2142215091, rs2142222377, rs2142117453, rs2508662320, rs2508677290, rs2508661900, rs2508684640, rs1131692177, rs1598143986, rs1598174225, rs1598192095, rs771704089, rs1909936773, rs750383066	RCV001375951 RCV005635141 RCV001808266 RCV002249186 RCV002246753 RCV002284008 RCV003151930 RCV003234950 RCV004555524 RCV000495116 RCV004803212 RCV001003509 RCV001003510 RCV001003511 RCV001254135 RCV005630905	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Likely pathogenic	rs2142215876	RCV002285026	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SUZ12-related disorder	Likely pathogenic; Pathogenic	rs372162318	RCV003419132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL STROMAL SARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDH-wildtype glioblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weaver syndrome	Uncertain significance	ClinVar ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	21480320		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30291346		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24449823, 26268246		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	26017281		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20920292		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20920292	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24434785, 29471243		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16766534, 24434785	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23735840, 34667274, 35649353	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20558579		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18753137	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	34667274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24449823		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21115743, 22964433		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32620106	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18753137, 26152361		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18753137		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24089088	Associate	★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26290261		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26407907		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11564866	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23001792, 25326896		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15231737, 23001792, 25243792, 26567139, 30791232	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	21316079		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31126817		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	36982425	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	28418861	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	18264096		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	18264096		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	18264096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	11371647, 12850374, 16049311, 18580489, 18722875, 19158498, 21316079, 21836477, 22982899, 23580382, 24186140, 24530230, 24750188, 25288234, 26429873, 26879382, 27845897, 29275929, 29660202, 31101969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	ORPHANET_DG	25299308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial stromal sarcoma	Endometrial Stromal Sarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	BEFREE	25299308, 28353387		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21115743, 22964433		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32699215	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	19502792		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26337274	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23733246, 31196742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	25119042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31196742		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CTD_human_DG	25119042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31724824		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32620106	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	25244093	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26636336, 33054835	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27303043	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37967992	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31724824		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17560333, 22190018	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	22053108	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22371884, 33166403, 35747989	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17172412, 22371884		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31031847		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25855382		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19536353	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20558579	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24633887	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28412742		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19530241	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	19530241		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	20558579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24434785, 29471243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	18264096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21480320, 31031847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23735840, 25672609, 28881724, 31234902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24449823		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19158498, 23486531, 23644490, 25119042, 26268246, 26472914		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25240281, 25305755, 26990975, 28124441, 28213670, 28295484, 28898989, 30291346, 30722027, 30867289, 31023785, 31107719		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18753137		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26407907		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20832727		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	20558579		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20558579, 25119042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	20558579	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	25119042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	21501485		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30404791	Associate	★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22053108		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22053108, 33166403	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19847889		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22053108		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	26290261	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37967992	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11371647, 16049311, 17197920, 17235569, 18753137, 19542872, 20832727, 21316079, 21480320, 25119042, 25326896, 26298164, 27000413, 29394168, 29667751, 31402560		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	CTD_human_DG	25240281, 25305755		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29202477		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29202477	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	25305755		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	25305755, 26990975		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15257518, 17999360, 20513137, 23101500, 26990975, 28213670, 28776093		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	LHGDN	15257518		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	38008284	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	25240281, 25305755, 26585554, 26645727, 26990975, 28752843, 28762137, 29482987, 30291346, 32666581, 35852856, 37246765	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32555314	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30210606		★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Perineurioma	Perineurioma	CTD_human_DG	25240281, 25305755		★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	CTD_human_DG	25240281, 25305755		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	20844836, 23101500		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22237151, 31492675		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15817459	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	30120321	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	18077430, 29415665, 34561551	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29415665		★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	22982899, 26429873, 31615558, 33838572, 34561551, 34928964, 35649353, 35710139, 36731460, 37406360	Associate	★☆☆☆☆ Found in Text Mining only
Schwannomatosis, Plexiform	Schwannomatosis	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29667751		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24076275, 31938073	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29667751		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27582550, 28228691		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23735840, 25672609, 28881724, 31234902		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	23735840	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23735840, 26837964	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28412742		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30295334	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18984978	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	GENOMICS_ENGLAND_DG	31724824		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18753137	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	31615558	Associate	★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver Syndrome	BEFREE	28229514, 30019515		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Weaver syndrome	Weaver Syndrome	ORPHANET_DG	28229514		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Weaver syndrome	Weaver Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Weaver syndrome	Weaver syndrome	Pubtator	30019515	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)