GTF2I (general transcription factor IIi)

Gene

• Entrez ID: 2969
• Gene name: General transcription factor IIi
• Gene symbol: GTF2I
• Synonyms (NCBI Gene): BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other nei

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005058	hsa-let-7b-5p	Microarray	17699775
MIRT030772	hsa-miR-21-5p	Microarray	18591254
MIRT052433	hsa-let-7a-5p	CLASH	23622248
MIRT051501	hsa-let-7e-5p	CLASH	23622248
MIRT048674	hsa-miR-99a-5p	CLASH	23622248
MIRT046376	hsa-miR-23b-3p	CLASH	23622248
MIRT042033	hsa-miR-484	CLASH	23622248
MIRT038672	hsa-miR-10a-3p	CLASH	23622248
MIRT036317	hsa-miR-1229-3p	CLASH	23622248
MIRT618082	hsa-miR-3121-3p	HITS-CLIP	23824327
MIRT618081	hsa-miR-3646	HITS-CLIP	23824327
MIRT618080	hsa-miR-1252-3p	HITS-CLIP	23824327
MIRT618079	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT618078	hsa-miR-3671	HITS-CLIP	23824327
MIRT618077	hsa-miR-607	HITS-CLIP	23824327
MIRT618076	hsa-miR-1305	HITS-CLIP	23824327
MIRT618075	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618082	hsa-miR-3121-3p	HITS-CLIP	23824327
MIRT618081	hsa-miR-3646	HITS-CLIP	23824327
MIRT618080	hsa-miR-1252-3p	HITS-CLIP	23824327
MIRT618079	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT618078	hsa-miR-3671	HITS-CLIP	23824327
MIRT618077	hsa-miR-607	HITS-CLIP	23824327
MIRT618076	hsa-miR-1305	HITS-CLIP	23824327
MIRT618075	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1037336	hsa-let-7a	CLIP-seq
MIRT1037337	hsa-let-7b	CLIP-seq
MIRT1037338	hsa-let-7c	CLIP-seq
MIRT1037339	hsa-let-7d	CLIP-seq
MIRT1037340	hsa-let-7e	CLIP-seq
MIRT1037341	hsa-let-7f	CLIP-seq
MIRT1037342	hsa-let-7g	CLIP-seq
MIRT1037343	hsa-let-7i	CLIP-seq
MIRT1037344	hsa-miR-1226	CLIP-seq
MIRT1037345	hsa-miR-1257	CLIP-seq
MIRT1037346	hsa-miR-1273e	CLIP-seq
MIRT1037347	hsa-miR-1273f	CLIP-seq
MIRT1037348	hsa-miR-1283	CLIP-seq
MIRT1037349	hsa-miR-1290	CLIP-seq
MIRT1037350	hsa-miR-1298	CLIP-seq
MIRT1037351	hsa-miR-1304	CLIP-seq
MIRT1037352	hsa-miR-136	CLIP-seq
MIRT1037353	hsa-miR-143	CLIP-seq
MIRT1037354	hsa-miR-145	CLIP-seq
MIRT1037355	hsa-miR-186	CLIP-seq
MIRT1037356	hsa-miR-1911	CLIP-seq
MIRT1037357	hsa-miR-194	CLIP-seq
MIRT1037358	hsa-miR-202	CLIP-seq
MIRT1037359	hsa-miR-21	CLIP-seq
MIRT1037360	hsa-miR-216a	CLIP-seq
MIRT1037361	hsa-miR-27a	CLIP-seq
MIRT1037362	hsa-miR-27b	CLIP-seq
MIRT1037363	hsa-miR-298	CLIP-seq
MIRT1037364	hsa-miR-300	CLIP-seq
MIRT1037365	hsa-miR-3133	CLIP-seq
MIRT1037366	hsa-miR-3135	CLIP-seq
MIRT1037367	hsa-miR-3148	CLIP-seq
MIRT1037368	hsa-miR-3149	CLIP-seq
MIRT1037369	hsa-miR-3154	CLIP-seq
MIRT1037370	hsa-miR-3158-5p	CLIP-seq
MIRT1037371	hsa-miR-3167	CLIP-seq
MIRT1037372	hsa-miR-3170	CLIP-seq
MIRT1037373	hsa-miR-3173-3p	CLIP-seq
MIRT1037374	hsa-miR-3180-5p	CLIP-seq
MIRT1037375	hsa-miR-3194-3p	CLIP-seq
MIRT1037376	hsa-miR-320a	CLIP-seq
MIRT1037377	hsa-miR-320b	CLIP-seq
MIRT1037378	hsa-miR-320c	CLIP-seq
MIRT1037379	hsa-miR-320d	CLIP-seq
MIRT1037380	hsa-miR-324-5p	CLIP-seq
MIRT1037381	hsa-miR-338-3p	CLIP-seq
MIRT1037382	hsa-miR-339-5p	CLIP-seq
MIRT1037383	hsa-miR-3611	CLIP-seq
MIRT1037384	hsa-miR-3614-5p	CLIP-seq
MIRT1037385	hsa-miR-3674	CLIP-seq
MIRT1037386	hsa-miR-3689a-5p	CLIP-seq
MIRT1037387	hsa-miR-3689b	CLIP-seq
MIRT1037388	hsa-miR-3689e	CLIP-seq
MIRT1037389	hsa-miR-3689f	CLIP-seq
MIRT1037390	hsa-miR-381	CLIP-seq
MIRT1037391	hsa-miR-3914	CLIP-seq
MIRT1037392	hsa-miR-3922-5p	CLIP-seq
MIRT1037393	hsa-miR-3941	CLIP-seq
MIRT1037394	hsa-miR-3978	CLIP-seq
MIRT1037395	hsa-miR-411	CLIP-seq
MIRT1037396	hsa-miR-412	CLIP-seq
MIRT1037397	hsa-miR-4257	CLIP-seq
MIRT1037398	hsa-miR-4264	CLIP-seq
MIRT1037399	hsa-miR-4266	CLIP-seq
MIRT1037400	hsa-miR-4289	CLIP-seq
MIRT1037401	hsa-miR-4299	CLIP-seq
MIRT1037402	hsa-miR-4310	CLIP-seq
MIRT1037403	hsa-miR-4418	CLIP-seq
MIRT1037404	hsa-miR-4420	CLIP-seq
MIRT1037405	hsa-miR-4421	CLIP-seq
MIRT1037406	hsa-miR-4428	CLIP-seq
MIRT1037407	hsa-miR-4429	CLIP-seq
MIRT1037408	hsa-miR-4432	CLIP-seq
MIRT1037409	hsa-miR-4434	CLIP-seq
MIRT1037410	hsa-miR-4446-5p	CLIP-seq
MIRT1037411	hsa-miR-4453	CLIP-seq
MIRT1037412	hsa-miR-4456	CLIP-seq
MIRT1037413	hsa-miR-4458	CLIP-seq
MIRT1037414	hsa-miR-4476	CLIP-seq
MIRT1037415	hsa-miR-4477b	CLIP-seq
MIRT1037416	hsa-miR-4487	CLIP-seq
MIRT1037417	hsa-miR-4490	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037419	hsa-miR-4500	CLIP-seq
MIRT1037420	hsa-miR-4503	CLIP-seq
MIRT1037421	hsa-miR-4511	CLIP-seq
MIRT1037422	hsa-miR-4512	CLIP-seq
MIRT1037423	hsa-miR-4516	CLIP-seq
MIRT1037424	hsa-miR-4520b-3p	CLIP-seq
MIRT1037425	hsa-miR-4529-3p	CLIP-seq
MIRT1037426	hsa-miR-4538	CLIP-seq
MIRT1037427	hsa-miR-4539	CLIP-seq
MIRT1037428	hsa-miR-4639-3p	CLIP-seq
MIRT1037429	hsa-miR-4643	CLIP-seq
MIRT1037430	hsa-miR-4652-3p	CLIP-seq
MIRT1037431	hsa-miR-4659a-3p	CLIP-seq
MIRT1037432	hsa-miR-4659b-3p	CLIP-seq
MIRT1037433	hsa-miR-466	CLIP-seq
MIRT1037434	hsa-miR-4663	CLIP-seq
MIRT1037435	hsa-miR-4666-3p	CLIP-seq
MIRT1037436	hsa-miR-4672	CLIP-seq
MIRT1037437	hsa-miR-4678	CLIP-seq
MIRT1037438	hsa-miR-4695-5p	CLIP-seq
MIRT1037439	hsa-miR-4704-3p	CLIP-seq
MIRT1037440	hsa-miR-4708-5p	CLIP-seq
MIRT1037441	hsa-miR-4710	CLIP-seq
MIRT1037442	hsa-miR-4712-3p	CLIP-seq
MIRT1037443	hsa-miR-4712-5p	CLIP-seq
MIRT1037444	hsa-miR-4724-5p	CLIP-seq
MIRT1037445	hsa-miR-4732-5p	CLIP-seq
MIRT1037446	hsa-miR-4744	CLIP-seq
MIRT1037447	hsa-miR-4755-5p	CLIP-seq
MIRT1037448	hsa-miR-4760-3p	CLIP-seq
MIRT1037449	hsa-miR-4770	CLIP-seq
MIRT1037450	hsa-miR-4774-5p	CLIP-seq
MIRT1037451	hsa-miR-4779	CLIP-seq
MIRT1037452	hsa-miR-4789-3p	CLIP-seq
MIRT1037453	hsa-miR-4789-5p	CLIP-seq
MIRT1037454	hsa-miR-4792	CLIP-seq
MIRT1037455	hsa-miR-4804-5p	CLIP-seq
MIRT1037456	hsa-miR-499-5p	CLIP-seq
MIRT1037457	hsa-miR-509-3-5p	CLIP-seq
MIRT1037458	hsa-miR-509-3p	CLIP-seq
MIRT1037459	hsa-miR-509-5p	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT1037461	hsa-miR-515-5p	CLIP-seq
MIRT1037462	hsa-miR-520a-5p	CLIP-seq
MIRT1037463	hsa-miR-524-3p	CLIP-seq
MIRT1037464	hsa-miR-525-3p	CLIP-seq
MIRT1037465	hsa-miR-525-5p	CLIP-seq
MIRT1037466	hsa-miR-544	CLIP-seq
MIRT1037467	hsa-miR-548a-5p	CLIP-seq
MIRT1037468	hsa-miR-548ab	CLIP-seq
MIRT1037469	hsa-miR-548ak	CLIP-seq
MIRT1037470	hsa-miR-548b-5p	CLIP-seq
MIRT1037471	hsa-miR-548c-5p	CLIP-seq
MIRT1037472	hsa-miR-548d-5p	CLIP-seq
MIRT1037473	hsa-miR-548h	CLIP-seq
MIRT1037474	hsa-miR-548i	CLIP-seq
MIRT1037475	hsa-miR-548j	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037477	hsa-miR-548q	CLIP-seq
MIRT1037478	hsa-miR-548w	CLIP-seq
MIRT1037479	hsa-miR-548y	CLIP-seq
MIRT1037480	hsa-miR-559	CLIP-seq
MIRT1037481	hsa-miR-568	CLIP-seq
MIRT1037482	hsa-miR-570	CLIP-seq
MIRT1037483	hsa-miR-578	CLIP-seq
MIRT1037484	hsa-miR-586	CLIP-seq
MIRT1037485	hsa-miR-590-5p	CLIP-seq
MIRT1037486	hsa-miR-616	CLIP-seq
MIRT1037487	hsa-miR-643	CLIP-seq
MIRT1037488	hsa-miR-656	CLIP-seq
MIRT1037489	hsa-miR-664	CLIP-seq
MIRT1037490	hsa-miR-668	CLIP-seq
MIRT1037491	hsa-miR-670	CLIP-seq
MIRT1037492	hsa-miR-760	CLIP-seq
MIRT1037493	hsa-miR-767-3p	CLIP-seq
MIRT1037494	hsa-miR-770-5p	CLIP-seq
MIRT1037495	hsa-miR-802	CLIP-seq
MIRT1037496	hsa-miR-876-5p	CLIP-seq
MIRT1037497	hsa-miR-944	CLIP-seq
MIRT1037498	hsa-miR-98	CLIP-seq
MIRT1037499	hsa-miR-1258	CLIP-seq
MIRT1037500	hsa-miR-3140-3p	CLIP-seq
MIRT1037501	hsa-miR-345	CLIP-seq
MIRT1037424	hsa-miR-4520b-3p	CLIP-seq
MIRT1037425	hsa-miR-4529-3p	CLIP-seq
MIRT1037455	hsa-miR-4804-5p	CLIP-seq
MIRT1037467	hsa-miR-548a-5p	CLIP-seq
MIRT1037468	hsa-miR-548ab	CLIP-seq
MIRT1037469	hsa-miR-548ak	CLIP-seq
MIRT1037470	hsa-miR-548b-5p	CLIP-seq
MIRT1037471	hsa-miR-548c-5p	CLIP-seq
MIRT1037472	hsa-miR-548d-5p	CLIP-seq
MIRT1037473	hsa-miR-548h	CLIP-seq
MIRT1037474	hsa-miR-548i	CLIP-seq
MIRT1037475	hsa-miR-548j	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037478	hsa-miR-548w	CLIP-seq
MIRT1037479	hsa-miR-548y	CLIP-seq
MIRT1037480	hsa-miR-559	CLIP-seq
MIRT1037502	hsa-miR-640	CLIP-seq
MIRT1037503	hsa-miR-943	CLIP-seq
MIRT1037497	hsa-miR-944	CLIP-seq
MIRT1037336	hsa-let-7a	CLIP-seq
MIRT1037337	hsa-let-7b	CLIP-seq
MIRT1037338	hsa-let-7c	CLIP-seq
MIRT1037339	hsa-let-7d	CLIP-seq
MIRT1037340	hsa-let-7e	CLIP-seq
MIRT1037341	hsa-let-7f	CLIP-seq
MIRT1037342	hsa-let-7g	CLIP-seq
MIRT1037343	hsa-let-7i	CLIP-seq
MIRT1037345	hsa-miR-1257	CLIP-seq
MIRT1037499	hsa-miR-1258	CLIP-seq
MIRT1037346	hsa-miR-1273e	CLIP-seq
MIRT1037347	hsa-miR-1273f	CLIP-seq
MIRT1037348	hsa-miR-1283	CLIP-seq
MIRT1037351	hsa-miR-1304	CLIP-seq
MIRT1037352	hsa-miR-136	CLIP-seq
MIRT1037353	hsa-miR-143	CLIP-seq
MIRT1037504	hsa-miR-1471	CLIP-seq
MIRT1037357	hsa-miR-194	CLIP-seq
MIRT1037358	hsa-miR-202	CLIP-seq
MIRT1037359	hsa-miR-21	CLIP-seq
MIRT1037360	hsa-miR-216a	CLIP-seq
MIRT1037361	hsa-miR-27a	CLIP-seq
MIRT1037362	hsa-miR-27b	CLIP-seq
MIRT1037363	hsa-miR-298	CLIP-seq
MIRT1037364	hsa-miR-300	CLIP-seq
MIRT1037500	hsa-miR-3140-3p	CLIP-seq
MIRT1037505	hsa-miR-3147	CLIP-seq
MIRT1037370	hsa-miR-3158-5p	CLIP-seq
MIRT1037372	hsa-miR-3170	CLIP-seq
MIRT1037373	hsa-miR-3173-3p	CLIP-seq
MIRT1037376	hsa-miR-320a	CLIP-seq
MIRT1037377	hsa-miR-320b	CLIP-seq
MIRT1037378	hsa-miR-320c	CLIP-seq
MIRT1037379	hsa-miR-320d	CLIP-seq
MIRT1037501	hsa-miR-345	CLIP-seq
MIRT1037506	hsa-miR-3591-5p	CLIP-seq
MIRT1037383	hsa-miR-3611	CLIP-seq
MIRT1037386	hsa-miR-3689a-5p	CLIP-seq
MIRT1037387	hsa-miR-3689b	CLIP-seq
MIRT1037388	hsa-miR-3689e	CLIP-seq
MIRT1037389	hsa-miR-3689f	CLIP-seq
MIRT1037390	hsa-miR-381	CLIP-seq
MIRT1037391	hsa-miR-3914	CLIP-seq
MIRT1037393	hsa-miR-3941	CLIP-seq
MIRT1037507	hsa-miR-3943	CLIP-seq
MIRT1037395	hsa-miR-411	CLIP-seq
MIRT1037396	hsa-miR-412	CLIP-seq
MIRT1037508	hsa-miR-4260	CLIP-seq
MIRT1037398	hsa-miR-4264	CLIP-seq
MIRT1037509	hsa-miR-4281	CLIP-seq
MIRT1037400	hsa-miR-4289	CLIP-seq
MIRT1037510	hsa-miR-4323	CLIP-seq
MIRT1037403	hsa-miR-4418	CLIP-seq
MIRT1037404	hsa-miR-4420	CLIP-seq
MIRT1037511	hsa-miR-4425	CLIP-seq
MIRT1037406	hsa-miR-4428	CLIP-seq
MIRT1037407	hsa-miR-4429	CLIP-seq
MIRT1037408	hsa-miR-4432	CLIP-seq
MIRT1037411	hsa-miR-4453	CLIP-seq
MIRT1037413	hsa-miR-4458	CLIP-seq
MIRT1037415	hsa-miR-4477b	CLIP-seq
MIRT1037417	hsa-miR-4490	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037419	hsa-miR-4500	CLIP-seq
MIRT1037426	hsa-miR-4538	CLIP-seq
MIRT1037429	hsa-miR-4643	CLIP-seq
MIRT1037430	hsa-miR-4652-3p	CLIP-seq
MIRT1037431	hsa-miR-4659a-3p	CLIP-seq
MIRT1037432	hsa-miR-4659b-3p	CLIP-seq
MIRT1037433	hsa-miR-466	CLIP-seq
MIRT1037435	hsa-miR-4666-3p	CLIP-seq
MIRT1037436	hsa-miR-4672	CLIP-seq
MIRT1037439	hsa-miR-4704-3p	CLIP-seq
MIRT1037440	hsa-miR-4708-5p	CLIP-seq
MIRT1037442	hsa-miR-4712-3p	CLIP-seq
MIRT1037448	hsa-miR-4760-3p	CLIP-seq
MIRT1037449	hsa-miR-4770	CLIP-seq
MIRT1037450	hsa-miR-4774-5p	CLIP-seq
MIRT1037512	hsa-miR-4781-3p	CLIP-seq
MIRT1037453	hsa-miR-4789-5p	CLIP-seq
MIRT1037456	hsa-miR-499-5p	CLIP-seq
MIRT1037457	hsa-miR-509-3-5p	CLIP-seq
MIRT1037459	hsa-miR-509-5p	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT1037513	hsa-miR-513c	CLIP-seq
MIRT1037514	hsa-miR-514b-5p	CLIP-seq
MIRT1037461	hsa-miR-515-5p	CLIP-seq
MIRT1037466	hsa-miR-544	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037515	hsa-miR-548t	CLIP-seq
MIRT1037484	hsa-miR-586	CLIP-seq
MIRT1037485	hsa-miR-590-5p	CLIP-seq
MIRT1037502	hsa-miR-640	CLIP-seq
MIRT1037488	hsa-miR-656	CLIP-seq
MIRT1037495	hsa-miR-802	CLIP-seq
MIRT1037516	hsa-miR-942	CLIP-seq
MIRT1037503	hsa-miR-943	CLIP-seq
MIRT1037497	hsa-miR-944	CLIP-seq
MIRT1037498	hsa-miR-98	CLIP-seq
MIRT1549415	hsa-miR-548ae	CLIP-seq
MIRT1549416	hsa-miR-548aj	CLIP-seq
MIRT1549417	hsa-miR-548am	CLIP-seq
MIRT1549418	hsa-miR-548x	CLIP-seq
MIRT2007478	hsa-miR-1193	CLIP-seq
MIRT2007479	hsa-miR-1246	CLIP-seq
MIRT1037345	hsa-miR-1257	CLIP-seq
MIRT1037499	hsa-miR-1258	CLIP-seq
MIRT2007480	hsa-miR-1266	CLIP-seq
MIRT1037347	hsa-miR-1273f	CLIP-seq
MIRT1037348	hsa-miR-1283	CLIP-seq
MIRT1037349	hsa-miR-1290	CLIP-seq
MIRT1037350	hsa-miR-1298	CLIP-seq
MIRT1037351	hsa-miR-1304	CLIP-seq
MIRT1037352	hsa-miR-136	CLIP-seq
MIRT1037353	hsa-miR-143	CLIP-seq
MIRT1037354	hsa-miR-145	CLIP-seq
MIRT1037504	hsa-miR-1471	CLIP-seq
MIRT2007481	hsa-miR-185	CLIP-seq
MIRT1037356	hsa-miR-1911	CLIP-seq
MIRT1037357	hsa-miR-194	CLIP-seq
MIRT1037359	hsa-miR-21	CLIP-seq
MIRT2007482	hsa-miR-214	CLIP-seq
MIRT1037363	hsa-miR-298	CLIP-seq
MIRT1037364	hsa-miR-300	CLIP-seq
MIRT2007483	hsa-miR-3134	CLIP-seq
MIRT1037366	hsa-miR-3135	CLIP-seq
MIRT1037500	hsa-miR-3140-3p	CLIP-seq
MIRT1037505	hsa-miR-3147	CLIP-seq
MIRT1037367	hsa-miR-3148	CLIP-seq
MIRT1037369	hsa-miR-3154	CLIP-seq
MIRT1037370	hsa-miR-3158-5p	CLIP-seq
MIRT1037371	hsa-miR-3167	CLIP-seq
MIRT1037372	hsa-miR-3170	CLIP-seq
MIRT1037373	hsa-miR-3173-3p	CLIP-seq
MIRT2007484	hsa-miR-3190	CLIP-seq
MIRT1037375	hsa-miR-3194-3p	CLIP-seq
MIRT1037380	hsa-miR-324-5p	CLIP-seq
MIRT2007485	hsa-miR-331-3p	CLIP-seq
MIRT1037381	hsa-miR-338-3p	CLIP-seq
MIRT1037382	hsa-miR-339-5p	CLIP-seq
MIRT1037501	hsa-miR-345	CLIP-seq
MIRT1037506	hsa-miR-3591-5p	CLIP-seq
MIRT2007486	hsa-miR-3607-3p	CLIP-seq
MIRT1037383	hsa-miR-3611	CLIP-seq
MIRT1037384	hsa-miR-3614-5p	CLIP-seq
MIRT2007487	hsa-miR-3619-5p	CLIP-seq
MIRT2007488	hsa-miR-3622b-5p	CLIP-seq
MIRT2007489	hsa-miR-365	CLIP-seq
MIRT2007490	hsa-miR-377	CLIP-seq
MIRT1037390	hsa-miR-381	CLIP-seq
MIRT2007491	hsa-miR-3910	CLIP-seq
MIRT1037391	hsa-miR-3914	CLIP-seq
MIRT1037392	hsa-miR-3922-5p	CLIP-seq
MIRT1037393	hsa-miR-3941	CLIP-seq
MIRT1037507	hsa-miR-3943	CLIP-seq
MIRT1037394	hsa-miR-3978	CLIP-seq
MIRT1037395	hsa-miR-411	CLIP-seq
MIRT1037396	hsa-miR-412	CLIP-seq
MIRT2007492	hsa-miR-4254	CLIP-seq
MIRT1037508	hsa-miR-4260	CLIP-seq
MIRT1037398	hsa-miR-4264	CLIP-seq
MIRT1037399	hsa-miR-4266	CLIP-seq
MIRT1037509	hsa-miR-4281	CLIP-seq
MIRT1037400	hsa-miR-4289	CLIP-seq
MIRT2007493	hsa-miR-4306	CLIP-seq
MIRT2007494	hsa-miR-4308	CLIP-seq
MIRT1037402	hsa-miR-4310	CLIP-seq
MIRT1037510	hsa-miR-4323	CLIP-seq
MIRT1037403	hsa-miR-4418	CLIP-seq
MIRT1037404	hsa-miR-4420	CLIP-seq
MIRT1037405	hsa-miR-4421	CLIP-seq
MIRT1037511	hsa-miR-4425	CLIP-seq
MIRT1037406	hsa-miR-4428	CLIP-seq
MIRT1037408	hsa-miR-4432	CLIP-seq
MIRT1037409	hsa-miR-4434	CLIP-seq
MIRT1037410	hsa-miR-4446-5p	CLIP-seq
MIRT1037411	hsa-miR-4453	CLIP-seq
MIRT1037414	hsa-miR-4476	CLIP-seq
MIRT1037415	hsa-miR-4477b	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037420	hsa-miR-4503	CLIP-seq
MIRT1037421	hsa-miR-4511	CLIP-seq
MIRT1037422	hsa-miR-4512	CLIP-seq
MIRT1037423	hsa-miR-4516	CLIP-seq
MIRT2007495	hsa-miR-4518	CLIP-seq
MIRT1037424	hsa-miR-4520b-3p	CLIP-seq
MIRT1037425	hsa-miR-4529-3p	CLIP-seq
MIRT1037426	hsa-miR-4538	CLIP-seq
MIRT1037429	hsa-miR-4643	CLIP-seq
MIRT2007496	hsa-miR-4644	CLIP-seq
MIRT1037430	hsa-miR-4652-3p	CLIP-seq
MIRT1037431	hsa-miR-4659a-3p	CLIP-seq
MIRT1037432	hsa-miR-4659b-3p	CLIP-seq
MIRT1037433	hsa-miR-466	CLIP-seq
MIRT1037434	hsa-miR-4663	CLIP-seq
MIRT1037435	hsa-miR-4666-3p	CLIP-seq
MIRT2007497	hsa-miR-4668-3p	CLIP-seq
MIRT1037436	hsa-miR-4672	CLIP-seq
MIRT1037437	hsa-miR-4678	CLIP-seq
MIRT1037438	hsa-miR-4695-5p	CLIP-seq
MIRT1037439	hsa-miR-4704-3p	CLIP-seq
MIRT1037440	hsa-miR-4708-5p	CLIP-seq
MIRT1037442	hsa-miR-4712-3p	CLIP-seq
MIRT1037443	hsa-miR-4712-5p	CLIP-seq
MIRT2007498	hsa-miR-4718	CLIP-seq
MIRT1037444	hsa-miR-4724-5p	CLIP-seq
MIRT2007499	hsa-miR-4729	CLIP-seq
MIRT2007500	hsa-miR-4742-3p	CLIP-seq
MIRT1037447	hsa-miR-4755-5p	CLIP-seq
MIRT1037448	hsa-miR-4760-3p	CLIP-seq
MIRT1037449	hsa-miR-4770	CLIP-seq
MIRT2007501	hsa-miR-4773	CLIP-seq
MIRT1037450	hsa-miR-4774-5p	CLIP-seq
MIRT1037451	hsa-miR-4779	CLIP-seq
MIRT1037512	hsa-miR-4781-3p	CLIP-seq
MIRT1037452	hsa-miR-4789-3p	CLIP-seq
MIRT1037453	hsa-miR-4789-5p	CLIP-seq
MIRT2007502	hsa-miR-4796-3p	CLIP-seq
MIRT1037455	hsa-miR-4804-5p	CLIP-seq
MIRT2007503	hsa-miR-488	CLIP-seq
MIRT2007504	hsa-miR-490-5p	CLIP-seq
MIRT1037456	hsa-miR-499-5p	CLIP-seq
MIRT1037457	hsa-miR-509-3-5p	CLIP-seq
MIRT1037458	hsa-miR-509-3p	CLIP-seq
MIRT1037459	hsa-miR-509-5p	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT1037513	hsa-miR-513c	CLIP-seq
MIRT1037514	hsa-miR-514b-5p	CLIP-seq
MIRT1037461	hsa-miR-515-5p	CLIP-seq
MIRT1037463	hsa-miR-524-3p	CLIP-seq
MIRT1037464	hsa-miR-525-3p	CLIP-seq
MIRT1037466	hsa-miR-544	CLIP-seq
MIRT1037467	hsa-miR-548a-5p	CLIP-seq
MIRT1037468	hsa-miR-548ab	CLIP-seq
MIRT1037469	hsa-miR-548ak	CLIP-seq
MIRT2007505	hsa-miR-548an	CLIP-seq
MIRT1037470	hsa-miR-548b-5p	CLIP-seq
MIRT1037471	hsa-miR-548c-5p	CLIP-seq
MIRT1037472	hsa-miR-548d-5p	CLIP-seq
MIRT1037473	hsa-miR-548h	CLIP-seq
MIRT1037474	hsa-miR-548i	CLIP-seq
MIRT1037475	hsa-miR-548j	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037515	hsa-miR-548t	CLIP-seq
MIRT1037478	hsa-miR-548w	CLIP-seq
MIRT1037479	hsa-miR-548y	CLIP-seq
MIRT1037480	hsa-miR-559	CLIP-seq
MIRT1037484	hsa-miR-586	CLIP-seq
MIRT1037485	hsa-miR-590-5p	CLIP-seq
MIRT1037486	hsa-miR-616	CLIP-seq
MIRT1037502	hsa-miR-640	CLIP-seq
MIRT1037488	hsa-miR-656	CLIP-seq
MIRT1037489	hsa-miR-664	CLIP-seq
MIRT1037491	hsa-miR-670	CLIP-seq
MIRT2007506	hsa-miR-7	CLIP-seq
MIRT1037492	hsa-miR-760	CLIP-seq
MIRT2007507	hsa-miR-761	CLIP-seq
MIRT1037494	hsa-miR-770-5p	CLIP-seq
MIRT1037495	hsa-miR-802	CLIP-seq
MIRT1037496	hsa-miR-876-5p	CLIP-seq
MIRT2007508	hsa-miR-937	CLIP-seq
MIRT1037516	hsa-miR-942	CLIP-seq
MIRT1037503	hsa-miR-943	CLIP-seq
MIRT2007480	hsa-miR-1266	CLIP-seq
MIRT1037359	hsa-miR-21	CLIP-seq
MIRT1037367	hsa-miR-3148	CLIP-seq
MIRT1037506	hsa-miR-3591-5p	CLIP-seq
MIRT2007489	hsa-miR-365	CLIP-seq
MIRT1037385	hsa-miR-3674	CLIP-seq
MIRT1037391	hsa-miR-3914	CLIP-seq
MIRT1037394	hsa-miR-3978	CLIP-seq
MIRT1037416	hsa-miR-4487	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037421	hsa-miR-4511	CLIP-seq
MIRT2007495	hsa-miR-4518	CLIP-seq
MIRT1037442	hsa-miR-4712-3p	CLIP-seq
MIRT1037444	hsa-miR-4724-5p	CLIP-seq
MIRT1037445	hsa-miR-4732-5p	CLIP-seq
MIRT1037450	hsa-miR-4774-5p	CLIP-seq
MIRT1037458	hsa-miR-509-3p	CLIP-seq
MIRT1037483	hsa-miR-578	CLIP-seq
MIRT1037485	hsa-miR-590-5p	CLIP-seq
MIRT1037487	hsa-miR-643	CLIP-seq
MIRT1037497	hsa-miR-944	CLIP-seq
MIRT1037350	hsa-miR-1298	CLIP-seq
MIRT1037421	hsa-miR-4511	CLIP-seq
MIRT1037439	hsa-miR-4704-3p	CLIP-seq
MIRT1037444	hsa-miR-4724-5p	CLIP-seq
MIRT1037448	hsa-miR-4760-3p	CLIP-seq
MIRT1037450	hsa-miR-4774-5p	CLIP-seq
MIRT1037512	hsa-miR-4781-3p	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT1037489	hsa-miR-664	CLIP-seq
MIRT1037504	hsa-miR-1471	CLIP-seq
MIRT1037357	hsa-miR-194	CLIP-seq
MIRT2007482	hsa-miR-214	CLIP-seq
MIRT1037364	hsa-miR-300	CLIP-seq
MIRT1037372	hsa-miR-3170	CLIP-seq
MIRT2007487	hsa-miR-3619-5p	CLIP-seq
MIRT1037390	hsa-miR-381	CLIP-seq
MIRT1037391	hsa-miR-3914	CLIP-seq
MIRT1037393	hsa-miR-3941	CLIP-seq
MIRT1037398	hsa-miR-4264	CLIP-seq
MIRT1037509	hsa-miR-4281	CLIP-seq
MIRT1037411	hsa-miR-4453	CLIP-seq
MIRT1037426	hsa-miR-4538	CLIP-seq
MIRT1037430	hsa-miR-4652-3p	CLIP-seq
MIRT1037433	hsa-miR-466	CLIP-seq
MIRT1037435	hsa-miR-4666-3p	CLIP-seq
MIRT1037436	hsa-miR-4672	CLIP-seq
MIRT1037439	hsa-miR-4704-3p	CLIP-seq
MIRT1037453	hsa-miR-4789-5p	CLIP-seq
MIRT1037513	hsa-miR-513c	CLIP-seq
MIRT1037514	hsa-miR-514b-5p	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037488	hsa-miR-656	CLIP-seq
MIRT2007507	hsa-miR-761	CLIP-seq
MIRT1037516	hsa-miR-942	CLIP-seq
MIRT1037336	hsa-let-7a	CLIP-seq
MIRT1037337	hsa-let-7b	CLIP-seq
MIRT1037338	hsa-let-7c	CLIP-seq
MIRT1037339	hsa-let-7d	CLIP-seq
MIRT1037340	hsa-let-7e	CLIP-seq
MIRT1037341	hsa-let-7f	CLIP-seq
MIRT1037342	hsa-let-7g	CLIP-seq
MIRT1037343	hsa-let-7i	CLIP-seq
MIRT1037358	hsa-miR-202	CLIP-seq
MIRT1037359	hsa-miR-21	CLIP-seq
MIRT1037373	hsa-miR-3173-3p	CLIP-seq
MIRT1037391	hsa-miR-3914	CLIP-seq
MIRT1037398	hsa-miR-4264	CLIP-seq
MIRT1037406	hsa-miR-4428	CLIP-seq
MIRT1037413	hsa-miR-4458	CLIP-seq
MIRT1037415	hsa-miR-4477b	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037419	hsa-miR-4500	CLIP-seq
MIRT1037422	hsa-miR-4512	CLIP-seq
MIRT1037439	hsa-miR-4704-3p	CLIP-seq
MIRT2007499	hsa-miR-4729	CLIP-seq
MIRT1037452	hsa-miR-4789-3p	CLIP-seq
MIRT1037466	hsa-miR-544	CLIP-seq
MIRT1037485	hsa-miR-590-5p	CLIP-seq
MIRT1037498	hsa-miR-98	CLIP-seq
MIRT1037497	hsa-miR-944	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT2007480	hsa-miR-1266	CLIP-seq
MIRT1037347	hsa-miR-1273f	CLIP-seq
MIRT1037353	hsa-miR-143	CLIP-seq
MIRT1037354	hsa-miR-145	CLIP-seq
MIRT1037504	hsa-miR-1471	CLIP-seq
MIRT2007481	hsa-miR-185	CLIP-seq
MIRT2007482	hsa-miR-214	CLIP-seq
MIRT1037361	hsa-miR-27a	CLIP-seq
MIRT1037362	hsa-miR-27b	CLIP-seq
MIRT1037363	hsa-miR-298	CLIP-seq
MIRT1037505	hsa-miR-3147	CLIP-seq
MIRT1037368	hsa-miR-3149	CLIP-seq
MIRT1037369	hsa-miR-3154	CLIP-seq
MIRT1037370	hsa-miR-3158-5p	CLIP-seq
MIRT2007485	hsa-miR-331-3p	CLIP-seq
MIRT1037506	hsa-miR-3591-5p	CLIP-seq
MIRT1037384	hsa-miR-3614-5p	CLIP-seq
MIRT2007487	hsa-miR-3619-5p	CLIP-seq
MIRT2007489	hsa-miR-365	CLIP-seq
MIRT1037507	hsa-miR-3943	CLIP-seq
MIRT1037395	hsa-miR-411	CLIP-seq
MIRT1037396	hsa-miR-412	CLIP-seq
MIRT2007492	hsa-miR-4254	CLIP-seq
MIRT1037508	hsa-miR-4260	CLIP-seq
MIRT1037509	hsa-miR-4281	CLIP-seq
MIRT2007493	hsa-miR-4306	CLIP-seq
MIRT2007494	hsa-miR-4308	CLIP-seq
MIRT1037510	hsa-miR-4323	CLIP-seq
MIRT1037403	hsa-miR-4418	CLIP-seq
MIRT1037404	hsa-miR-4420	CLIP-seq
MIRT1037511	hsa-miR-4425	CLIP-seq
MIRT1037409	hsa-miR-4434	CLIP-seq
MIRT2543825	hsa-miR-4464	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037421	hsa-miR-4511	CLIP-seq
MIRT1037423	hsa-miR-4516	CLIP-seq
MIRT2007495	hsa-miR-4518	CLIP-seq
MIRT1037428	hsa-miR-4639-3p	CLIP-seq
MIRT2007496	hsa-miR-4644	CLIP-seq
MIRT1037431	hsa-miR-4659a-3p	CLIP-seq
MIRT1037432	hsa-miR-4659b-3p	CLIP-seq
MIRT2543826	hsa-miR-4667-3p	CLIP-seq
MIRT1037437	hsa-miR-4678	CLIP-seq
MIRT1037440	hsa-miR-4708-5p	CLIP-seq
MIRT1037443	hsa-miR-4712-5p	CLIP-seq
MIRT2543827	hsa-miR-4748	CLIP-seq
MIRT1037448	hsa-miR-4760-3p	CLIP-seq
MIRT1037449	hsa-miR-4770	CLIP-seq
MIRT2007501	hsa-miR-4773	CLIP-seq
MIRT1037512	hsa-miR-4781-3p	CLIP-seq
MIRT2543828	hsa-miR-483-3p	CLIP-seq
MIRT1037457	hsa-miR-509-3-5p	CLIP-seq
MIRT1037459	hsa-miR-509-5p	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037515	hsa-miR-548t	CLIP-seq
MIRT1037481	hsa-miR-568	CLIP-seq
MIRT1037490	hsa-miR-668	CLIP-seq
MIRT2007507	hsa-miR-761	CLIP-seq
MIRT1037493	hsa-miR-767-3p	CLIP-seq
MIRT1037494	hsa-miR-770-5p	CLIP-seq
MIRT2007508	hsa-miR-937	CLIP-seq
MIRT2007480	hsa-miR-1266	CLIP-seq
MIRT1037347	hsa-miR-1273f	CLIP-seq
MIRT1037353	hsa-miR-143	CLIP-seq
MIRT1037354	hsa-miR-145	CLIP-seq
MIRT1037504	hsa-miR-1471	CLIP-seq
MIRT2007481	hsa-miR-185	CLIP-seq
MIRT2007482	hsa-miR-214	CLIP-seq
MIRT1037361	hsa-miR-27a	CLIP-seq
MIRT1037362	hsa-miR-27b	CLIP-seq
MIRT1037363	hsa-miR-298	CLIP-seq
MIRT1037505	hsa-miR-3147	CLIP-seq
MIRT1037367	hsa-miR-3148	CLIP-seq
MIRT1037368	hsa-miR-3149	CLIP-seq
MIRT1037369	hsa-miR-3154	CLIP-seq
MIRT1037370	hsa-miR-3158-5p	CLIP-seq
MIRT2007485	hsa-miR-331-3p	CLIP-seq
MIRT1037506	hsa-miR-3591-5p	CLIP-seq
MIRT1037384	hsa-miR-3614-5p	CLIP-seq
MIRT2007487	hsa-miR-3619-5p	CLIP-seq
MIRT2007489	hsa-miR-365	CLIP-seq
MIRT1037394	hsa-miR-3978	CLIP-seq
MIRT1037395	hsa-miR-411	CLIP-seq
MIRT1037396	hsa-miR-412	CLIP-seq
MIRT2007492	hsa-miR-4254	CLIP-seq
MIRT1037508	hsa-miR-4260	CLIP-seq
MIRT1037509	hsa-miR-4281	CLIP-seq
MIRT2007493	hsa-miR-4306	CLIP-seq
MIRT2007494	hsa-miR-4308	CLIP-seq
MIRT1037403	hsa-miR-4418	CLIP-seq
MIRT1037404	hsa-miR-4420	CLIP-seq
MIRT1037511	hsa-miR-4425	CLIP-seq
MIRT1037409	hsa-miR-4434	CLIP-seq
MIRT2543825	hsa-miR-4464	CLIP-seq
MIRT1037418	hsa-miR-4496	CLIP-seq
MIRT1037421	hsa-miR-4511	CLIP-seq
MIRT1037423	hsa-miR-4516	CLIP-seq
MIRT2007495	hsa-miR-4518	CLIP-seq
MIRT1037428	hsa-miR-4639-3p	CLIP-seq
MIRT2007496	hsa-miR-4644	CLIP-seq
MIRT1037430	hsa-miR-4652-3p	CLIP-seq
MIRT1037431	hsa-miR-4659a-3p	CLIP-seq
MIRT1037432	hsa-miR-4659b-3p	CLIP-seq
MIRT1037437	hsa-miR-4678	CLIP-seq
MIRT1037440	hsa-miR-4708-5p	CLIP-seq
MIRT1037443	hsa-miR-4712-5p	CLIP-seq
MIRT2543827	hsa-miR-4748	CLIP-seq
MIRT1037448	hsa-miR-4760-3p	CLIP-seq
MIRT1037449	hsa-miR-4770	CLIP-seq
MIRT2007501	hsa-miR-4773	CLIP-seq
MIRT1037512	hsa-miR-4781-3p	CLIP-seq
MIRT1037457	hsa-miR-509-3-5p	CLIP-seq
MIRT1037458	hsa-miR-509-3p	CLIP-seq
MIRT1037459	hsa-miR-509-5p	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq
MIRT1037476	hsa-miR-548n	CLIP-seq
MIRT1037515	hsa-miR-548t	CLIP-seq
MIRT1037481	hsa-miR-568	CLIP-seq
MIRT1037490	hsa-miR-668	CLIP-seq
MIRT2007507	hsa-miR-761	CLIP-seq
MIRT1037493	hsa-miR-767-3p	CLIP-seq
MIRT1037494	hsa-miR-770-5p	CLIP-seq
MIRT2007508	hsa-miR-937	CLIP-seq
MIRT1037460	hsa-miR-513a-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC3	Unknown	21549311

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	23229069
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	9334314
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	9334314
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	9012831, 19214191, 21407215
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	19242469
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016525	Process	Negative regulation of angiogenesis	IDA	19242469
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0100026	Process	Positive regulation of DNA repair by transcription from RNA polymerase II promoter	IDA	9334314

Other IDs

• MIM: 601679
• HGNC: 4659
• e!Ensembl: ENSG00000263001

Protein

• UniProt ID: P78347
• Protein name: General transcription factor II-I (GTFII-I) (TFII-I) (Bruton tyrosine kinase-associated protein 135) (BAP-135) (BTK-associated protein 135) (SRF-Phox1-interacting protein) (SPIN) (Williams-Beuren syndrome chromosomal region 6 protein)
• Protein function: Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of
• PDB: 2D9B, 2DN4, 2ED2, 2EJE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02946	GTF2I	112 → 186	GTF2I-like repeat	Family
  PF02946	GTF2I	361 → 435	GTF2I-like repeat	Family
  PF02946	GTF2I	466 → 540	GTF2I-like repeat	Family
  PF02946	GTF2I	571 → 645	GTF2I-like repeat	Family
  PF02946	GTF2I	733 → 807	GTF2I-like repeat	Family
  PF02946	GTF2I	868 → 942	GTF2I-like repeat	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult brain, muscle, and lymphoblasts and is almost undetectable in other adult tissues, while the other isoforms are equally expressed in all adult tissues.
• Sequence:

  MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTE
  RGRAFVNTRKDFQKDFVKYCVEEEEKAAEMHKMKSTTQANRMSVDAVEIETLRKTVEDYF
  CFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI
  SFIIKRPFLEPKKHVGGRVMVTDADRSILSPGGSCGPIKVKTEPTEDSGISLEMAAVTVK
  EESEDPDYYQYNIQAGPSETDDVDEKQPLSKPLQGSHHSSEGNEGTEMEVPAEDSTQHVP
  SETSEDPEVEVTIEDDDYSPPSKRPKANELPQPPVPEPANAGKRKVREFNFEKWNARITD
  LRKQVEELFERKYAQAIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLE
  RILLAKERIRFVIKKHELLNSTREDLQLDKPASGVKEEWYARITKLRKMVDQLFCKKFAE
  ALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLEKIIQVGNRIKFVIKR
  PELLTHSTTEVTQPRTNTPVKEDWNVRITKLRKQVEEIFNLKFAQALGLTEAVKVPYPVF
  ESNPEFLYVEGLPEGIPFRSPTWFGIPRLERIVRGSNKIKFVVKKPELVISYLPPGMASK
  INTKALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGRE
  FSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPF
  RRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASG
  VEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITIN
  PGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESE
  GPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW

• Sequence length: 998

Pathways

KEGG:

Basal transcription factors
cGMP-PKG signaling pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015, 30061737
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	22048961
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Cornea plana	Cornea plana	rs121917858, rs121917860, rs121917862, rs121917863, rs386833985, rs386833986, rs757611751
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hypertension	Hypertension, Renovascular	rs13306026
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	18206229
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
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
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Renal insufficiency	Renal Insufficiency	rs1596536873
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Supravalvar aortic stenosis	Supravalvular aortic stenosis	rs137854452, rs137854453, rs2132322943, rs1563826213, rs137854454, rs137854455, rs1554686162, rs397516433, rs727503783, rs727503782, rs727503022, rs727503023, rs727503024, rs727503026, rs727503027, rs727503028, rs727503029, rs727503031, rs727503033, rs727503034, rs727503035, rs727504419, rs727504433, rs727504434, rs727504581, rs730880355, rs863223518, rs863223520, rs200862792, rs878854452, rs886039351, rs1554669800, rs1554672602, rs1554672587, rs1554666513, rs1554669297, rs1554676454, rs1400530335, rs1563836689, rs1563793627, rs1583959262, rs1584494326, rs1583818183, rs1787875866, rs1791626037, rs1794096639, rs1794104889, rs199621188, rs1795205877, rs1797063858, rs782528759, rs1797218441, rs782674700
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		30940143	ClinVar
Congestive heart failure	Congestive heart failure			ClinVar
Mental depression	Depressive disorder			ClinVar
Myocardial infarction	Myocardial Infarction			ClinVar
Otitis media	Chronic otitis media			ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		30061737, 29892015	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Williams syndrome	Williams Syndrome, Williams syndrome		21328569, 20007321	ClinVar
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Diabetes	Diabetes			GWAS
Rheumatoid arthritis	Rheumatoid arthritis			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Crohn Disease	Crohn Disease			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agnosia	Associate	16971481
Anxiety	Associate	26285132
Arthritis Rheumatoid	Associate	27272985, 31520790
Astrocytoma	Associate	28448514
Autism Spectrum Disorder	Associate	33208191
Autistic Disorder	Associate	25429715
Breast Neoplasms	Inhibit	16611241
Breast Neoplasms	Associate	31215771, 35317849
Chromosome Duplication	Associate	26285132
Cognition Disorders	Associate	15994861, 19568270, 22608712
Colorectal Neoplasms	Associate	33925358
Drug Related Side Effects and Adverse Reactions	Associate	28657656
Dyslexia	Associate	18445785
Exfoliation Syndrome	Associate	36794549
Facial Dysmorphism with Multiple Malformations	Associate	19568270
Fragile X Syndrome	Associate	36292679
Hyperostosis Diffuse Idiopathic Skeletal	Associate	22608712
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	31374066
Intellectual Disability	Associate	32349160
Kidney Diseases	Associate	31374066
Leukemia Erythroblastic Acute	Associate	28657656
Lupus Erythematosus Systemic	Associate	26686423, 31374066, 31520790
Lupus Nephritis	Associate	31374066
Memory Disorders	Associate	22608712
Mental Disorders	Associate	25429715
Myasthenia Gravis	Associate	34497477, 36114454
Neoplasm Metastasis	Associate	31215771
Neoplasms	Associate	12493763, 26656605, 33925358, 34367733, 36114454
Neuromyelitis Optica	Associate	31520790
Non alcoholic Fatty Liver Disease	Associate	35891648
Phobia Social	Associate	25429715, 26853120, 28424317
Phobia Social	Inhibit	26853120
Prostatic Neoplasms	Associate	21503958
Proteinuria	Associate	31374066
Rhabdomyosarcoma Alveolar	Associate	34367733
Scleroderma Systemic	Stimulate	34248934
Scleroderma Systemic	Associate	34248934
Sjogren's Syndrome	Associate	26686423, 31520790
Thymic epithelial tumor	Associate	24974848, 28400429, 34033229, 36114454
Thymoma	Associate	24974848, 31641231, 34104648, 34497477, 36853782, 37489594
Williams Syndrome	Associate	12796854, 15388857, 15994861, 16971481, 19205026, 19282872, 19568270, 22608712, 23118870, 25105779, 25429715, 26285132, 26853120, 28098859, 28424317, 31204697, 33208191, 33859276, 35379245, 38097729, 40024325