BRD4 (bromodomain containing 4)

Gene

• Entrez ID: 23476
• Gene name: Bromodomain containing 4
• Gene symbol: BRD4
• Synonyms (NCBI Gene): CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP
• Disease Acronyms (UniProt): CDLS6, MCAP
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555737887	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1568383758	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1599473950	GTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029120	hsa-miR-26b-5p	Microarray	19088304
MIRT044471	hsa-miR-320a	CLASH	23622248
MIRT042219	hsa-miR-484	CLASH	23622248
MIRT037828	hsa-miR-455-3p	CLASH	23622248
MIRT036894	hsa-miR-877-3p	CLASH	23622248
MIRT035757	hsa-miR-2110	CLASH	23622248
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660149	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT660148	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT660147	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT660146	hsa-miR-8485	HITS-CLIP	23824327
MIRT660145	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT613277	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT613276	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT613272	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613271	hsa-miR-507	HITS-CLIP	23824327
MIRT613270	hsa-miR-557	HITS-CLIP	23824327
MIRT613269	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT636685	hsa-miR-4495	HITS-CLIP	23824327
MIRT636684	hsa-miR-379-3p	HITS-CLIP	23824327
MIRT636683	hsa-miR-411-3p	HITS-CLIP	23824327
MIRT636682	hsa-miR-380-3p	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT636685	hsa-miR-4495	HITS-CLIP	23824327
MIRT636684	hsa-miR-379-3p	HITS-CLIP	23824327
MIRT636683	hsa-miR-411-3p	HITS-CLIP	23824327
MIRT636682	hsa-miR-380-3p	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613280	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT613279	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT613278	hsa-miR-3938	HITS-CLIP	23824327
MIRT613277	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT613276	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT613275	hsa-miR-623	HITS-CLIP	23824327
MIRT613274	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613273	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT613272	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613271	hsa-miR-507	HITS-CLIP	23824327
MIRT613270	hsa-miR-557	HITS-CLIP	23824327
MIRT613269	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT441106	hsa-miR-544a	HITS-CLIP	24374217
MIRT441106	hsa-miR-544a	HITS-CLIP	24374217
MIRT660148	hsa-miR-329-3p	Luciferase reporter assay, qRT-PCR, Western blot	26456956
MIRT660148	hsa-miR-329-3p	Luciferase reporter assay, qRT-PCR, Western blot	26456956
MIRT734104	hsa-miR-765	ELISA, Luciferase reporter assay, qRT-PCR, Western blotting	33686960
MIRT735339	hsa-miR-1293	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	32320642
MIRT615096	hsa-miR-548d-3p	Luciferase reporter assay, Immunoprecipitaion (IP), RNA-seq	31937753
MIRT736323	hsa-miR-608	Luciferase reporter assay, Western blotting, qRT-PCR	31621555
MIRT736323	hsa-miR-608	Western blotting, Microarray, qRT-PCR, Flow cytometry	32002032
MIRT736926	hsa-miR-381-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	34024119
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660149	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT660148	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT660147	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT660146	hsa-miR-8485	HITS-CLIP	23824327
MIRT660145	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT613277	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT613276	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT613272	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613271	hsa-miR-507	HITS-CLIP	23824327
MIRT613270	hsa-miR-557	HITS-CLIP	23824327
MIRT613269	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT636685	hsa-miR-4495	HITS-CLIP	23824327
MIRT636684	hsa-miR-379-3p	HITS-CLIP	23824327
MIRT636683	hsa-miR-411-3p	HITS-CLIP	23824327
MIRT636682	hsa-miR-380-3p	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT636685	hsa-miR-4495	HITS-CLIP	23824327
MIRT636684	hsa-miR-379-3p	HITS-CLIP	23824327
MIRT636683	hsa-miR-411-3p	HITS-CLIP	23824327
MIRT636682	hsa-miR-380-3p	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615098	hsa-miR-548ac	HITS-CLIP	23824327
MIRT615097	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT615096	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT615095	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT615094	hsa-miR-548z	HITS-CLIP	23824327
MIRT615093	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613280	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT613279	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT613278	hsa-miR-3938	HITS-CLIP	23824327
MIRT613277	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT613276	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT613275	hsa-miR-623	HITS-CLIP	23824327
MIRT613274	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613273	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT613272	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613271	hsa-miR-507	HITS-CLIP	23824327
MIRT613270	hsa-miR-557	HITS-CLIP	23824327
MIRT613269	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT824414	hsa-miR-1182	CLIP-seq
MIRT824415	hsa-miR-1208	CLIP-seq
MIRT824416	hsa-miR-1244	CLIP-seq
MIRT824417	hsa-miR-1255a	CLIP-seq
MIRT824418	hsa-miR-1255b	CLIP-seq
MIRT824419	hsa-miR-1273f	CLIP-seq
MIRT824420	hsa-miR-1287	CLIP-seq
MIRT824421	hsa-miR-1290	CLIP-seq
MIRT824422	hsa-miR-1302	CLIP-seq
MIRT824423	hsa-miR-143	CLIP-seq
MIRT824424	hsa-miR-149	CLIP-seq
MIRT824425	hsa-miR-1913	CLIP-seq
MIRT824426	hsa-miR-1915	CLIP-seq
MIRT824427	hsa-miR-2682	CLIP-seq
MIRT824428	hsa-miR-29a	CLIP-seq
MIRT824429	hsa-miR-29b	CLIP-seq
MIRT824430	hsa-miR-29c	CLIP-seq
MIRT824431	hsa-miR-3064-5p	CLIP-seq
MIRT824432	hsa-miR-3119	CLIP-seq
MIRT824433	hsa-miR-3135b	CLIP-seq
MIRT824434	hsa-miR-3158-3p	CLIP-seq
MIRT824435	hsa-miR-3167	CLIP-seq
MIRT824436	hsa-miR-3170	CLIP-seq
MIRT824437	hsa-miR-3189-5p	CLIP-seq
MIRT824438	hsa-miR-3199	CLIP-seq
MIRT824439	hsa-miR-324-3p	CLIP-seq
MIRT824440	hsa-miR-3591-3p	CLIP-seq
MIRT824441	hsa-miR-3675-5p	CLIP-seq
MIRT824442	hsa-miR-377	CLIP-seq
MIRT824443	hsa-miR-4257	CLIP-seq
MIRT824444	hsa-miR-4263	CLIP-seq
MIRT824445	hsa-miR-4269	CLIP-seq
MIRT824446	hsa-miR-4298	CLIP-seq
MIRT824447	hsa-miR-4311	CLIP-seq
MIRT824448	hsa-miR-4328	CLIP-seq
MIRT824449	hsa-miR-4433	CLIP-seq
MIRT824450	hsa-miR-4459	CLIP-seq
MIRT824451	hsa-miR-4477a	CLIP-seq
MIRT824452	hsa-miR-449c	CLIP-seq
MIRT824453	hsa-miR-4514	CLIP-seq
MIRT824454	hsa-miR-4521	CLIP-seq
MIRT824455	hsa-miR-4652-5p	CLIP-seq
MIRT824456	hsa-miR-4663	CLIP-seq
MIRT824457	hsa-miR-4668-5p	CLIP-seq
MIRT824458	hsa-miR-4675	CLIP-seq
MIRT824459	hsa-miR-4692	CLIP-seq
MIRT824460	hsa-miR-4701-5p	CLIP-seq
MIRT824461	hsa-miR-4708-5p	CLIP-seq
MIRT824462	hsa-miR-4740-5p	CLIP-seq
MIRT824463	hsa-miR-4741	CLIP-seq
MIRT824464	hsa-miR-4742-5p	CLIP-seq
MIRT824465	hsa-miR-4758-3p	CLIP-seq
MIRT824466	hsa-miR-4763-5p	CLIP-seq
MIRT824467	hsa-miR-4768-3p	CLIP-seq
MIRT824468	hsa-miR-4770	CLIP-seq
MIRT824469	hsa-miR-4779	CLIP-seq
MIRT824470	hsa-miR-4794	CLIP-seq
MIRT824471	hsa-miR-4797-5p	CLIP-seq
MIRT824472	hsa-miR-483-5p	CLIP-seq
MIRT824473	hsa-miR-486-3p	CLIP-seq
MIRT824474	hsa-miR-544	CLIP-seq
MIRT824475	hsa-miR-570	CLIP-seq
MIRT824476	hsa-miR-583	CLIP-seq
MIRT824477	hsa-miR-588	CLIP-seq
MIRT824478	hsa-miR-615-5p	CLIP-seq
MIRT824479	hsa-miR-663b	CLIP-seq
MIRT824480	hsa-miR-758	CLIP-seq
MIRT824481	hsa-miR-876-5p	CLIP-seq
MIRT824482	hsa-miR-890	CLIP-seq
MIRT824483	hsa-miR-1228	CLIP-seq
MIRT824484	hsa-miR-1231	CLIP-seq
MIRT824485	hsa-miR-1253	CLIP-seq
MIRT824486	hsa-miR-185	CLIP-seq
MIRT824487	hsa-miR-1914	CLIP-seq
MIRT824488	hsa-miR-2964a-5p	CLIP-seq
MIRT824489	hsa-miR-3123	CLIP-seq
MIRT824490	hsa-miR-3144-5p	CLIP-seq
MIRT824491	hsa-miR-3150a-3p	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT824493	hsa-miR-3154	CLIP-seq
MIRT824494	hsa-miR-3191	CLIP-seq
MIRT824495	hsa-miR-4289	CLIP-seq
MIRT824496	hsa-miR-4306	CLIP-seq
MIRT824497	hsa-miR-4318	CLIP-seq
MIRT824498	hsa-miR-4434	CLIP-seq
MIRT824499	hsa-miR-4516	CLIP-seq
MIRT824500	hsa-miR-4519	CLIP-seq
MIRT824501	hsa-miR-4644	CLIP-seq
MIRT824455	hsa-miR-4652-5p	CLIP-seq
MIRT824502	hsa-miR-4689	CLIP-seq
MIRT824503	hsa-miR-4693-5p	CLIP-seq
MIRT824504	hsa-miR-4704-3p	CLIP-seq
MIRT824505	hsa-miR-4711-3p	CLIP-seq
MIRT824506	hsa-miR-4730	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824508	hsa-miR-516b	CLIP-seq
MIRT824509	hsa-miR-548aa	CLIP-seq
MIRT824510	hsa-miR-592	CLIP-seq
MIRT824511	hsa-miR-599	CLIP-seq
MIRT824512	hsa-miR-635	CLIP-seq
MIRT824513	hsa-miR-767-3p	CLIP-seq
MIRT824514	hsa-miR-885-3p	CLIP-seq
MIRT824515	hsa-miR-891a	CLIP-seq
MIRT824516	hsa-miR-892a	CLIP-seq
MIRT824513	hsa-miR-767-3p	CLIP-seq
MIRT1943706	hsa-miR-4747-5p	CLIP-seq
MIRT1943707	hsa-miR-1202	CLIP-seq
MIRT824483	hsa-miR-1228	CLIP-seq
MIRT824484	hsa-miR-1231	CLIP-seq
MIRT824485	hsa-miR-1253	CLIP-seq
MIRT1943708	hsa-miR-1281	CLIP-seq
MIRT1943709	hsa-miR-1286	CLIP-seq
MIRT1943710	hsa-miR-141	CLIP-seq
MIRT824487	hsa-miR-1914	CLIP-seq
MIRT1943711	hsa-miR-200a	CLIP-seq
MIRT1943712	hsa-miR-204	CLIP-seq
MIRT1943713	hsa-miR-211	CLIP-seq
MIRT824488	hsa-miR-2964a-5p	CLIP-seq
MIRT824489	hsa-miR-3123	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT1943714	hsa-miR-3688-3p	CLIP-seq
MIRT1943715	hsa-miR-3972	CLIP-seq
MIRT1943716	hsa-miR-3978	CLIP-seq
MIRT824495	hsa-miR-4289	CLIP-seq
MIRT1943717	hsa-miR-4307	CLIP-seq
MIRT824497	hsa-miR-4318	CLIP-seq
MIRT824498	hsa-miR-4434	CLIP-seq
MIRT1943718	hsa-miR-4436a	CLIP-seq
MIRT824499	hsa-miR-4516	CLIP-seq
MIRT824500	hsa-miR-4519	CLIP-seq
MIRT1943719	hsa-miR-4651	CLIP-seq
MIRT824502	hsa-miR-4689	CLIP-seq
MIRT824503	hsa-miR-4693-5p	CLIP-seq
MIRT824504	hsa-miR-4704-3p	CLIP-seq
MIRT824505	hsa-miR-4711-3p	CLIP-seq
MIRT1943720	hsa-miR-4721	CLIP-seq
MIRT824506	hsa-miR-4730	CLIP-seq
MIRT1943721	hsa-miR-4757-5p	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824471	hsa-miR-4797-5p	CLIP-seq
MIRT824508	hsa-miR-516b	CLIP-seq
MIRT824509	hsa-miR-548aa	CLIP-seq
MIRT824510	hsa-miR-592	CLIP-seq
MIRT824511	hsa-miR-599	CLIP-seq
MIRT1943722	hsa-miR-600	CLIP-seq
MIRT824513	hsa-miR-767-3p	CLIP-seq
MIRT824514	hsa-miR-885-3p	CLIP-seq
MIRT824515	hsa-miR-891a	CLIP-seq
MIRT824516	hsa-miR-892a	CLIP-seq
MIRT824461	hsa-miR-4708-5p	CLIP-seq
MIRT2182449	hsa-miR-668	CLIP-seq
MIRT824483	hsa-miR-1228	CLIP-seq
MIRT1943708	hsa-miR-1281	CLIP-seq
MIRT1943709	hsa-miR-1286	CLIP-seq
MIRT1943710	hsa-miR-141	CLIP-seq
MIRT1943711	hsa-miR-200a	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT2182450	hsa-miR-329	CLIP-seq
MIRT1943718	hsa-miR-4436a	CLIP-seq
MIRT2182451	hsa-miR-4447	CLIP-seq
MIRT2182452	hsa-miR-4472	CLIP-seq
MIRT2182453	hsa-miR-4659a-5p	CLIP-seq
MIRT2182454	hsa-miR-4659b-5p	CLIP-seq
MIRT824502	hsa-miR-4689	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824513	hsa-miR-767-3p	CLIP-seq
MIRT824514	hsa-miR-885-3p	CLIP-seq
MIRT1943707	hsa-miR-1202	CLIP-seq
MIRT824483	hsa-miR-1228	CLIP-seq
MIRT2384877	hsa-miR-2052	CLIP-seq
MIRT1943715	hsa-miR-3972	CLIP-seq
MIRT2384878	hsa-miR-3973	CLIP-seq
MIRT1943717	hsa-miR-4307	CLIP-seq
MIRT2182451	hsa-miR-4447	CLIP-seq
MIRT2182452	hsa-miR-4472	CLIP-seq
MIRT2384879	hsa-miR-4776-3p	CLIP-seq
MIRT2384880	hsa-miR-520g	CLIP-seq
MIRT2384881	hsa-miR-520h	CLIP-seq
MIRT824484	hsa-miR-1231	CLIP-seq
MIRT824485	hsa-miR-1253	CLIP-seq
MIRT824489	hsa-miR-3123	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT824498	hsa-miR-4434	CLIP-seq
MIRT824499	hsa-miR-4516	CLIP-seq
MIRT824505	hsa-miR-4711-3p	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824508	hsa-miR-516b	CLIP-seq
MIRT824510	hsa-miR-592	CLIP-seq
MIRT824511	hsa-miR-599	CLIP-seq
MIRT824484	hsa-miR-1231	CLIP-seq
MIRT824485	hsa-miR-1253	CLIP-seq
MIRT824489	hsa-miR-3123	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT824498	hsa-miR-4434	CLIP-seq
MIRT824499	hsa-miR-4516	CLIP-seq
MIRT824505	hsa-miR-4711-3p	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824508	hsa-miR-516b	CLIP-seq
MIRT824510	hsa-miR-592	CLIP-seq
MIRT824511	hsa-miR-599	CLIP-seq
MIRT824484	hsa-miR-1231	CLIP-seq
MIRT824485	hsa-miR-1253	CLIP-seq
MIRT824489	hsa-miR-3123	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT824498	hsa-miR-4434	CLIP-seq
MIRT824499	hsa-miR-4516	CLIP-seq
MIRT824505	hsa-miR-4711-3p	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824508	hsa-miR-516b	CLIP-seq
MIRT824510	hsa-miR-592	CLIP-seq
MIRT824511	hsa-miR-599	CLIP-seq
MIRT824484	hsa-miR-1231	CLIP-seq
MIRT824485	hsa-miR-1253	CLIP-seq
MIRT824489	hsa-miR-3123	CLIP-seq
MIRT824492	hsa-miR-3150b-3p	CLIP-seq
MIRT824498	hsa-miR-4434	CLIP-seq
MIRT824499	hsa-miR-4516	CLIP-seq
MIRT824505	hsa-miR-4711-3p	CLIP-seq
MIRT824507	hsa-miR-4784	CLIP-seq
MIRT824508	hsa-miR-516b	CLIP-seq
MIRT824510	hsa-miR-592	CLIP-seq
MIRT824511	hsa-miR-599	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NPM1	Unknown	24220271

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	18039861
GO:0000794	Component	Condensed nuclear chromosome	IDA	10938129
GO:0002039	Function	P53 binding	IDA	23317504
GO:0003682	Function	Chromatin binding	IDA	20871596, 23086925, 23317504
GO:0003712	Function	Transcription coregulator activity	IMP	24360279
GO:0003713	Function	Transcription coactivator activity	IMP	21555454
GO:0005515	Function	Protein binding	IPI	17023018, 17189189, 17474147, 18305892, 19103749, 21555454, 22645123, 22761572, 23455924, 23686307, 24360279, 24525235, 29176719, 29374058
GO:0005634	Component	Nucleus	IDA	20871596
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006974	Process	Cellular response to DNA damage stimulus	IEA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IMP	22509028
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	10938129
GO:0016032	Process	Viral process	IEA
GO:0019899	Function	Enzyme binding	IPI	21555454
GO:0032968	Process	Positive regulation of transcription elongation from RNA polymerase II promoter	IDA	19103749, 23086925
GO:0032968	Process	Positive regulation of transcription elongation from RNA polymerase II promoter	IMP	18039861
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	19103749
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	21555454
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23086925, 23317504, 24360279
GO:0050727	Process	Regulation of inflammatory response	IDA	19103749
GO:0070577	Function	Lysine-acetylated histone binding	IDA	20871596, 23086925, 23317504, 29176719
GO:0099122	Function	RNA polymerase II C-terminal domain binding	IDA	22509028
GO:0106140	Function	P-TEFb complex binding	IDA	24360279
GO:1901407	Process	Regulation of phosphorylation of RNA polymerase II C-terminal domain	IDA	23086925
GO:2001255	Process	Positive regulation of histone H3-K36 trimethylation	IMP	21555454

Other IDs

• MIM: 608749
• HGNC: 13575
• e!Ensembl: ENSG00000141867

Protein

• UniProt ID: O60885
• Protein name: Bromodomain-containing protein 4 (Protein HUNK1)
• Protein function: Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation (PubMed:20871596, PubMed:23086925, PubMed:23317504, PubMed:291767
• PDB: 2I8N, 2LSP, 2MJV, 2N3K, 2NCZ, 2ND0, 2ND1, 2NNU, 2OSS, 2OUO, 2YEL, 2YEM, 3MXF, 3P5O, 3SVF, 3SVG, 3U5J, 3U5K, 3U5L, 3UVW, 3UVX, 3UVY, 3UW9, 3ZYU, 4A9L, 4BJX, 4BW1, 4BW2, 4BW3, 4BW4, 4C66, 4C67, 4CFK, 4CFL, 4CL9, 4CLB, 4DON, 4E96, 4F3I, 4GPJ, 4HBV, 4HBW, 4HBX, 4HBY, 4HXK, 4HXL, 4HXM, 4HXN, 4HXO, 4HXP, 4HXR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00439	Bromodomain	67 → 152	Bromodomain	Domain
  PF00439	Bromodomain	357 → 445	Bromodomain	Domain
  PF17035	BET	609 → 673	Bromodomain extra-terminal - transcription regulation	Domain
  PF17105	BRD4_CDT	1319 → 1362	C-terminal domain of bromodomain protein 4	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12543779}.
• Sequence:

  MSAESGPGTRLRNLPVMGDGLETSQMSTTQAQAQPQPANAASTNPPPPETSNPNKPKRQT
  NQLQYLLRVVLKTLWKHQFAWPFQQPVDAVKLNLPDYYKIIKTPMDMGTIKKRLENNYYW
  NAQECIQDFNTMFTNCYIYNKPGDDIVLMAEALEKLFLQKINELPTEETEIMIVQAKGRG
  RGRKETGTAKPGVSTVPNTTQASTPPQTQTPQPNPPPVQATPHPFPAVTPDLIVQTPVMT
  VVPPQPLQTPPPVPPQPQPPPAPAPQPVQSHPPIIAATPQPVKTKKGVKRKADTTTPTTI
  DPIHEPPSLPPEPKTTKLGQRRESSRPVKPPKKDVPDSQQHPAPEKSSKVSEQLKCCSGI
  LKEMFAKKHAAYAWPFYKPVDVEALGLHDYCDIIKHPMDMSTIKSKLEAREYRDAQEFGA
  DVRLMFSNCYKYNPPDHEVVAMARKLQDVFEMRFAKMPDEPEEPVVAVSSPAVPPPTKVV
  APPSSSDSSSDSSSDSDSSTDDSEEERAQRLAELQEQLKAVHEQLAALSQPQQNKPKKKE
  KDKKEKKKEKHKRKEEVEENKKSKAKEPPPKKTKKNNSSNSNVSKKEPAPMKSKPPPTYE
  SEEEDKCKPMSYEEKRQLSLDINKLPGEKLGRVVHIIQSREPSLKNSNPDEIEIDFETLK
  PSTLRELERYVTSCLRKKRKPQAEKVDVIAGSSKMKGFSSSESESSSESSSSDSEDSETE
  MAPKSKKKGHPGREQKKHHHHHHQQMQQAPAPVPQQPPPPPQQPPPPPPPQQQQQPPPPP
  PPPSMPQQAAPAMKSSPPPFIATQVPVLEPQLPGSVFDPIGHFTQPILHLPQPELPPHLP
  QPPEHSTPPHLNQHAVVSPPALHNALPQQPSRPSNRAAALPPKPARPPAVSPALTQTPLL
  PQPPMAQPPQVLLEDEEPPAPPLTSMQMQLYLQQLQKVQPPTPLLPSVKVQSQPPPPLPP
  PPHPSVQQQLQQQPPPPPPPQPQPPPQQQHQPPPRPVHLQPMQFSTHIQQPPPPQGQQPP
  HPPPGQQPPPPQPAKPQQVIQHHHSPRHHKSDPYSTGHLREAPSPLMIHSPQMSQFQSLT
  HQSPPQQNVQPKKQELRAASVVQPQPLVVVKEEKIHSPIIRSEPFSPSLRPEPPKHPESI
  KAPVHLPQRPEMKPVDVGRPVIRPPEQNAPPPGAPDKDKQKQEPKTPVAPKKDLKIKNMG
  SWASLVQKHPTTPSSTAKSSSDSFEQFRRAAREKEEREKALKAQAEHAEKEKERLRQERM
  RSREDEDALEQARRAHEEARRRQEQQQQQRQEQQQQQQQQAAAVAAAATPQAQSSQPQSM
  LDQQRELARKREQERRRREAMAATIDMNFQSDLLSIFEENLF

• Sequence length: 1362

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma	NUT midline carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	22017582
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	26752646
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	30302754
Congenital muscular hypertrophy-cerebral syndrome	Congenital muscular hypertrophy-cerebral syndrome	rs1602407457, rs122454122, rs122454123, rs387906702, rs587784419, rs587784418, rs587784416, rs587784415, rs587784412, rs587784410, rs587784409, rs587784408, rs587784407, rs587784406, rs587784404, rs587784403, rs587784423, rs587784421, rs587784420, rs727503773, rs863225459, rs863225458, rs797044896, rs797045069, rs797045993, rs797045992, rs886044819, rs1057518670, rs1057519499, rs1057519398, rs1556889269, rs1556890135, rs1556886034, rs1556889236, rs1569356550, rs1569356555, rs1569358628, rs1569359048, rs1569359535, rs1569359540, rs1556890815, rs1556886127, rs1556886124, rs1556892359, rs1569351341, rs1569351534, rs1569351907, rs1569356968, rs1602404847, rs1602411858, rs1602409271, rs1602398950, rs1602405588, rs1602410098, rs868985177, rs1602413582, rs1556885810, rs1602410239, rs1556887759, rs2075587887, rs2075680329, rs2075685944, rs2075701790, rs2075725792, rs2075725850	29379197
Cornelia de lange syndrome	Cornelia De Lange Syndrome, Cornelia de Lange Syndrome 3, Cornelia de Lange Syndrome 1	rs121918264, rs121918265, rs1554011042, rs1561222491, rs1554016981, rs121918266, rs121918267, rs121918268, rs1561231553, rs121918269, rs724159980, rs863223279, rs387907212, rs398122888, rs397515415, rs397515416, rs397515417, rs397515418, rs587779380, rs398124465, rs398124466, rs80358362, rs398124471, rs398124474, rs80358367, rs80358382, rs80358364, rs80358374, rs80358386, rs80358369, rs80358372, rs80358366, rs80358373, rs80358360, rs80358363, rs80358361, rs80358376, rs80358384, rs80358370, rs80358368, rs80358371, rs587783937, rs587784009, rs587784010, rs587784012, rs587784060, rs587783886, rs587783893, rs587783895, rs587783917, rs587783922, rs587783927, rs587783928, rs587783951, rs587783988, rs587783993, rs587784048, rs587784049, rs587784059, rs587784062, rs587784063, rs587784065, rs587783877, rs587783878, rs587783879, rs587783880, rs587783882, rs587783883, rs587783884, rs587783887, rs587783888, rs587783889, rs587783891, rs587783892, rs587783894, rs587783896, rs587783897, rs587783899, rs587783901, rs587783902, rs587783905, rs587783906, rs587783907, rs587783909, rs587783910, rs587783911, rs587783912, rs587783914, rs587783918, rs80358356, rs80358375, rs587783919, rs587783921, rs587783923, rs587783925, rs587783926, rs587783930, rs587783931, rs587783932, rs587783933, rs587783934, rs587783936, rs587783938, rs587783939, rs587783940, rs587783941, rs587783942, rs587783944, rs587783945, rs587783947, rs587783950, rs587783952, rs587783953, rs587783954, rs587783955, rs587783957, rs77632238, rs587783959, rs587783960, rs587783961, rs587783966, rs587783967, rs587783968, rs587783969, rs587783971, rs587783972, rs587783973, rs587783974, rs587783975, rs587783977, rs62654864, rs587783979, rs587783980, rs587783982, rs587783984, rs587783985, rs587783986, rs587783987, rs587783994, rs587783997, rs587783998, rs587784000, rs587784002, rs587784003, rs587784004, rs587784005, rs587784007, rs587784008, rs587784013, rs587784015, rs587784016, rs587784017, rs587784019, rs587784020, rs587784021, rs587784022, rs587784024, rs587784025, rs587784026, rs587784027, rs587784029, rs587784030, rs587784032, rs587784033, rs587784034, rs587784035, rs587784036, rs587784037, rs587784038, rs587784039, rs587784040, rs587784043, rs587784047, rs587784050, rs587784052, rs587784053, rs587784055, rs587784056, rs587784429, rs587784425, rs587784427, rs587783663, rs727503768, rs727503770, rs727503767, rs727503766, rs727503769, rs730880331, rs727503772, rs727503771, rs727503778, rs727503777, rs797044861, rs797045070, rs797045749, rs797045753, rs797045755, rs797045763, rs797045745, rs797045746, rs797045747, rs797045748, rs797045750, rs797045751, rs797045752, rs797045754, rs797045756, rs797045757, rs797045758, rs797045760, rs797045761, rs797045762, rs797045764, rs797045766, rs797045767, rs797045768, rs797045769, rs797045770, rs797045771, rs797045772, rs797045773, rs797045775, rs797045776, rs797045778, rs797045779, rs797045780, rs797045783, rs797045784, rs797045785, rs797045786, rs797045787, rs797045788, rs797045789, rs797045909, rs797045908, rs797045907, rs797045997, rs797045613, rs797045612, rs797045611, rs797045610, rs863224910, rs863224877, rs863225258, rs863225259, rs863225260, rs863225261, rs869312660, rs869312672, rs886041810, rs886041239, rs886041936, rs886041838, rs886042231, rs1057516034, rs1057516037, rs1057518944, rs1057518727, rs1057520375, rs1555948969, rs1554017345, rs1554017661, rs1554019663, rs1554020997, rs1554031864, rs1554032085, rs1554612096, rs776056911, rs146015223, rs1554032789, rs1554014382, rs1554011046, rs1554019698, rs1554030233, rs1554035311, rs1554017441, rs1554025675, rs1554030285, rs1554019667, rs1554015145, rs1554023967, rs1555949010, rs1554015303, rs1561083229, rs1561164598, rs1561207924, rs1563687901, rs1563689416, rs1564792181, rs1564794233, rs1569316085, rs1569318004, rs1556009247, rs1554025780, rs1554019712, rs1554032954, rs1554017175, rs1554035266, rs1563686762, rs1556165162, rs1554025252, rs1554025796, rs1554020579, rs1554612093, rs1569317995, rs1561102868, rs1561145912, rs1561222738, rs1561169166, rs1561214997, rs1564789897, rs1563688680, rs1590556722, rs866740147, rs1580396071, rs1580425629, rs1580436698, rs1580451470, rs751902505, rs1579570362, rs1590563617, rs1580323183, rs1580373035, rs1602975455, rs1580396767, rs1602491207, rs748876063, rs1590572104, rs1602975122, rs1580323151, rs1579557913, rs1586275911, rs1590556378, rs1602975601, rs1586268625, rs1586276006, rs748575266, rs1580394197, rs1590571077, rs1741183871, rs1748964402, rs1749739420, rs1754396332, rs1754603855, rs1755082448, rs1755224830, rs1812515682, rs1740652803, rs2051897517, rs1861074646, rs1812331711, rs1352385210, rs1812376090, rs2047965357, rs1740845459	29379197
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	26455392, 27388964
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	24231268
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	30302754
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	30302754
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544
Polycystic kidney disease	Polycystic Kidney, Autosomal Dominant, Polycystic Kidney, Type 1 Autosomal Dominant Disease, Polycystic kidney disease, type 2	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358	25877301
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24763052

Unknown
Disease term	Disease name	Evidence	References	Source
Multiple Congenital Anomalies	multiple congenital anomalies/dysmorphic syndrome			GenCC
Cornelia De Lange Syndrome	Cornelia de Lange syndrome 6, Cornelia de Lange syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	23129625
Adenoma Islet Cell	Stimulate	31492561
Adrenocortical Carcinoma	Associate	35765893
Adrenocortical Carcinoma	Stimulate	36793283
Alzheimer Disease	Associate	35248531
Aortic Aneurysm Abdominal	Associate	35096137
Arthritis Rheumatoid	Associate	33717143, 35494514
Atherosclerosis	Associate	31300040
Autoimmune Diseases	Associate	30463877
Breast Neoplasms	Associate	19706770, 25001387, 25788266, 26771497, 27651315, 28359301, 28846832, 28981843, 30029633, 31886177, 32321829, 32799413, 33006750, 33099470, 33617509, 35105803, 36124682, 40696656
Burkitt Lymphoma	Associate	23317504, 26051217
Calcinosis	Associate	30476723
Carcinogenesis	Associate	21652721, 25120803, 27624132, 28481868, 28630312, 32954665, 35105803, 37737256
Carcinoma Adenoid Cystic	Associate	28545522
Carcinoma Hepatocellular	Associate	25816404, 27081696, 34173348, 35514200, 35546353, 36193305, 37880710
Carcinoma Non Small Cell Lung	Associate	26840017, 34400879
Carcinoma Ovarian Epithelial	Associate	31043489
Carcinoma Pancreatic Ductal	Associate	24807963
Carcinoma Renal Cell	Associate	32303673, 35918352, 36364277
Carcinoma Squamous Cell	Associate	37119804
Cardiovascular Diseases	Associate	30879350
Cell Transformation Neoplastic	Stimulate	29312470
Central Nervous System Neoplasms	Associate	36934287
Cerebral Hemorrhage	Associate	40605044
Cleft Lip	Associate	26913922
Colorectal Neoplasms	Associate	29507187, 31734632, 32100443, 34290255, 34819668, 35159127, 36781122
Corneal Endothelial Cell Loss	Associate	33148187
COVID 19	Associate	36305426
De Lange Syndrome	Associate	35470444, 39983729
Developmental Disabilities	Associate	31911672
Diabetes Mellitus	Associate	33148187
Diabetes Mellitus Type 2	Associate	38034011
Diffuse Intrinsic Pontine Glioma	Associate	32826850
Down Syndrome	Associate	38513239
Endometrial Neoplasms	Associate	32877461, 35226658
Esophageal Neoplasms	Associate	34160902
Esophageal Squamous Cell Carcinoma	Associate	36933111, 37676642, 40124272
Fibrosis	Associate	38606512
Genetic Diseases Inborn	Associate	30463877
Glioma	Associate	36224471
Graves Ophthalmopathy	Stimulate	37272763
Helicobacter Infections	Associate	32820150
Hemangiosarcoma	Associate	33016928
Hematologic Neoplasms	Associate	30532520
Hepatitis B	Associate	28694331
Hypertension	Associate	33148187
Infections	Associate	26365679, 32350070
Inflammation	Associate	27084101, 27536004, 27651315, 30652495, 30879350, 31300040, 32303673, 32642770, 32799413, 33148187, 33408470, 33717143, 36364277, 36575377, 36933111, 38606512, 40131774, 40605044
Inflammation	Stimulate	39241280
Leiomyosarcoma	Stimulate	39273015
Leukemia	Associate	25989842, 26055303, 28490802
Leukemia Biphenotypic Acute	Associate	24403256
Leukemia Lymphocytic Chronic B Cell	Associate	35743155, 36287107
Leukemia Mast Cell	Associate	26055303
Leukemia Myeloid Acute	Associate	23317504, 23517011, 25989842, 27291650, 27764789, 30568163, 31266503, 34016956, 34358447, 34793513, 35264812, 35832114, 35842703, 37055414
Leukemia Myeloid Acute	Stimulate	33796404
Leukemia T Cell	Associate	29563491, 33972798
Lung Neoplasms	Stimulate	31621555
Lung Neoplasms	Associate	31908099, 31908141, 34173348, 34400879
Lymphatic Metastasis	Stimulate	25120803, 36352160
Lymphatic Metastasis	Associate	26840017
Lymphoma	Associate	30076183, 34252226
Lymphoma Large B Cell Diffuse	Associate	24332044, 30076183, 37294920
Lymphoma Mantle Cell	Associate	31882553
MASS syndrome	Associate	20352379
Mastocytosis Systemic	Associate	26055303
Medulloblastoma	Associate	36273157
Melanoma	Associate	29149598, 33504439, 34252226
Melanoma Cutaneous Malignant	Associate	34252226
Midline granulomatosis	Associate	16542442, 20352379, 21652721, 23604113, 24736545, 26220994, 27698495, 28484033, 28630312, 28930680, 31492174, 32366905
Mitochondrial complex I deficiency	Associate	27666594, 27716487
Mitochondrial Diseases	Associate	27666594, 34252226
Multiple Myeloma	Associate	23317504, 23582323, 32762714, 32992461, 33186461, 36121114
Multiple Organ Failure	Associate	32642770
Myelodysplastic Syndromes	Associate	29563491
Neoplasm Metastasis	Stimulate	25120803, 26840017
Neoplasm Metastasis	Associate	27651315, 31110158, 31908141, 37676642
Neoplasms	Associate	11733348, 16542442, 20352379, 22790861, 23317504, 24403256, 24736545, 24763052, 24875858, 25001387, 25788266, 25816404, 26035625, 26051217, 26080064, 26220994, 26586234, 26596901, 26840017, 27081696, 27084101, 27443262, 27536004, 27651315, 28205554, 28415703, 28481868, 28490802, 28630312, 29346775, 29434197, 29437854, 29622725, 29996811, 30012592, 30029633, 30224758, 30552129, 30723300, 30846826, 30879350, 31492174, 31882553, 31908099, 31908141, 32303673, 32796829, 32799413, 32918711, 32954665, 33176817, 33504439, 33515627, 33717143, 34173348, 34232599, 34290255, 34296453, 34583995, 34754068, 34997561, 35159127, 35182012, 35226658, 35264812, 35417004, 35867655, 36475791, 36499487, 36690674, 36793283, 37072347, 37096681, 37119804, 37676642, 37737256, 37992275, 38014458, 38103559, 38134745, 38606512, 39241280
Neoplasms	Stimulate	36193305, 36352160, 37968249
Neoplasms	Inhibit	37831776
Neuroblastoma	Associate	30789735
Neuroendocrine Tumors	Associate	28281917
Neurofibrosarcoma	Associate	28813519
Neurologic Manifestations	Associate	33323470
Obesity	Associate	30879350
Oncogene Addiction	Associate	32826850
Osteoporosis	Associate	37980502
Osteosarcoma	Associate	30476723
Ovarian Neoplasms	Associate	26864203, 27452461, 32044108, 32629664, 33686960, 34252226, 36753396, 37060086, 37737256
Pancreatic Neoplasms	Associate	25807524, 32893006, 34252226, 37096681, 37831776
Personality Disorders	Associate	32961679, 35494514
Post Acute COVID 19 Syndrome	Associate	11733348
Post Acute COVID 19 Syndrome	Stimulate	16542442, 22425924
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	31747612
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	29563491, 31747612, 36321792
Pressure Ulcer	Associate	33148187
Prostatic Neoplasms	Associate	27223260, 28359301, 28805820, 28805822, 29108467, 29346775, 32690869, 33654218, 37828515
Prostatic Neoplasms Castration Resistant	Associate	27223260, 29490263, 30921702, 31110158, 32690869
Pulmonary Arterial Hypertension	Associate	37516840
Pulmonary Disease Chronic Obstructive	Associate	30652495, 33833509, 33854310
Pulmonary Disease Chronic Obstructive	Stimulate	37533154
Pulmonary Embolism	Associate	37821869
Rhabdomyosarcoma Alveolar	Associate	36232302
Sarcoma	Associate	35182012, 37533154
Schizophrenia	Associate	24736545, 28359301
Small Cell Lung Carcinoma	Associate	32669118, 35194152, 37390276
Squamous Cell Carcinoma of Head and Neck	Associate	29792310, 32961679, 35705032, 35923111, 36333293, 38014458, 38606512
Stomach Neoplasms	Associate	28415703, 28481868, 29434197, 32820150, 36352160
Testicular Neoplasms	Associate	34997561
Thymic epithelial tumor	Associate	22425924
Thymoma	Associate	22425924
Thyroid Neoplasms	Associate	34956562
Triple Negative Breast Neoplasms	Associate	27651315, 30012592, 33006750, 34754068, 36499487, 38073442
Urinary Bladder Neoplasms	Associate	25120803
Urinary Bladder Neoplasms	Stimulate	35167374
Uterine Cervical Neoplasms	Associate	33611824
Vascular Calcification	Associate	30476723
Wounds and Injuries	Associate	33854310, 40605044