Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10735
Gene name	STAG2 cohesin complex component
Gene symbol	STAG2
Synonyms (NCBI Gene)	HPE13MKMSNEDXCFSA-2SA2SCC3BbA517O1.1
Chromosome	X
Chromosome location	Xq25
Summary	The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that geneti

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1374370833	A>G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1569507848	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1569510978	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569511477	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1569512722	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569515507	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1569515729	AGA>T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569515797	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569516580	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569520709	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602977573	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1603150613	C>T	Likely-pathogenic	Coding sequence variant, missense variant

464

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020913	hsa-miR-155-5p	Proteomics	18668040
MIRT025332	hsa-miR-34a-5p	Proteomics	21566225
MIRT025332	hsa-miR-34a-5p	Proteomics	21566225
MIRT031017	hsa-miR-21-5p	Sequencing	20371350
MIRT047306	hsa-miR-181a-5p	CLASH	23622248
MIRT047306	hsa-miR-181a-5p	CLASH	23622248
MIRT047201	hsa-miR-182-5p	CLASH	23622248
MIRT045116	hsa-miR-186-5p	CLASH	23622248
MIRT041363	hsa-miR-193b-3p	CLASH	23622248
MIRT666073	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT666071	hsa-miR-3651	HITS-CLIP	23824327
MIRT666072	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT666070	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT666069	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666068	hsa-miR-8081	HITS-CLIP	23824327
MIRT439530	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439530	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT731050	hsa-miR-409-3p	Luciferase reporter assay	25065597
MIRT731050	hsa-miR-409-3p	Luciferase reporter assay	25065597
MIRT666073	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT666071	hsa-miR-3651	HITS-CLIP	23824327
MIRT666072	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT666070	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT666069	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666068	hsa-miR-8081	HITS-CLIP	23824327
MIRT1394404	hsa-miR-1183	CLIP-seq
MIRT1394405	hsa-miR-21	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394408	hsa-miR-3137	CLIP-seq
MIRT1394409	hsa-miR-4659a-3p	CLIP-seq
MIRT1394410	hsa-miR-4659b-3p	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394417	hsa-miR-548g	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT1394419	hsa-miR-590-5p	CLIP-seq
MIRT1394420	hsa-miR-1208	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT1394422	hsa-miR-1303	CLIP-seq
MIRT1394423	hsa-miR-140-3p	CLIP-seq
MIRT1394424	hsa-miR-155	CLIP-seq
MIRT1394425	hsa-miR-2054	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT1394429	hsa-miR-3168	CLIP-seq
MIRT1394430	hsa-miR-3201	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT1394433	hsa-miR-3662	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT1394435	hsa-miR-380	CLIP-seq
MIRT1394436	hsa-miR-3925-5p	CLIP-seq
MIRT1394437	hsa-miR-4277	CLIP-seq
MIRT1394438	hsa-miR-4279	CLIP-seq
MIRT1394439	hsa-miR-4282	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT1394444	hsa-miR-4643	CLIP-seq
MIRT1394445	hsa-miR-466	CLIP-seq
MIRT1394446	hsa-miR-4698	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394450	hsa-miR-4789-3p	CLIP-seq
MIRT1394451	hsa-miR-4791	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT1394453	hsa-miR-513a-3p	CLIP-seq
MIRT1394454	hsa-miR-548c-3p	CLIP-seq
MIRT1394455	hsa-miR-569	CLIP-seq
MIRT1394456	hsa-miR-889	CLIP-seq
MIRT1394404	hsa-miR-1183	CLIP-seq
MIRT1394457	hsa-miR-1243	CLIP-seq
MIRT1394458	hsa-miR-1252	CLIP-seq
MIRT1394459	hsa-miR-1256	CLIP-seq
MIRT1394460	hsa-miR-1270	CLIP-seq
MIRT1394461	hsa-miR-1290	CLIP-seq
MIRT1394462	hsa-miR-1323	CLIP-seq
MIRT1394424	hsa-miR-155	CLIP-seq
MIRT1394463	hsa-miR-1910	CLIP-seq
MIRT1394464	hsa-miR-1913	CLIP-seq
MIRT1394405	hsa-miR-21	CLIP-seq
MIRT1394465	hsa-miR-214	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT1394466	hsa-miR-2355-3p	CLIP-seq
MIRT1394467	hsa-miR-29a	CLIP-seq
MIRT1394468	hsa-miR-29b	CLIP-seq
MIRT1394469	hsa-miR-29c	CLIP-seq
MIRT1394470	hsa-miR-3065-3p	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394471	hsa-miR-3125	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT1394408	hsa-miR-3137	CLIP-seq
MIRT1394472	hsa-miR-3145-3p	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394474	hsa-miR-3167	CLIP-seq
MIRT1394429	hsa-miR-3168	CLIP-seq
MIRT1394475	hsa-miR-3183	CLIP-seq
MIRT1394430	hsa-miR-3201	CLIP-seq
MIRT1394476	hsa-miR-3202	CLIP-seq
MIRT1394477	hsa-miR-324-3p	CLIP-seq
MIRT1394478	hsa-miR-338-5p	CLIP-seq
MIRT1394479	hsa-miR-340	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT1394480	hsa-miR-3619-5p	CLIP-seq
MIRT1394481	hsa-miR-3650	CLIP-seq
MIRT1394482	hsa-miR-3654	CLIP-seq
MIRT1394483	hsa-miR-3909	CLIP-seq
MIRT1394484	hsa-miR-3916	CLIP-seq
MIRT1394436	hsa-miR-3925-5p	CLIP-seq
MIRT1394485	hsa-miR-3976	CLIP-seq
MIRT1394486	hsa-miR-4263	CLIP-seq
MIRT1394487	hsa-miR-4269	CLIP-seq
MIRT1394437	hsa-miR-4277	CLIP-seq
MIRT1394488	hsa-miR-4291	CLIP-seq
MIRT1394489	hsa-miR-432	CLIP-seq
MIRT1394490	hsa-miR-4327	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394491	hsa-miR-4464	CLIP-seq
MIRT1394492	hsa-miR-4470	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT1394493	hsa-miR-4503	CLIP-seq
MIRT1394494	hsa-miR-4514	CLIP-seq
MIRT1394495	hsa-miR-4531	CLIP-seq
MIRT1394496	hsa-miR-4533	CLIP-seq
MIRT1394409	hsa-miR-4659a-3p	CLIP-seq
MIRT1394410	hsa-miR-4659b-3p	CLIP-seq
MIRT1394497	hsa-miR-4668-3p	CLIP-seq
MIRT1394498	hsa-miR-4692	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394499	hsa-miR-4723-3p	CLIP-seq
MIRT1394500	hsa-miR-4742-5p	CLIP-seq
MIRT1394501	hsa-miR-4748	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394451	hsa-miR-4791	CLIP-seq
MIRT1394503	hsa-miR-4797-5p	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT1394504	hsa-miR-490-3p	CLIP-seq
MIRT1394453	hsa-miR-513a-3p	CLIP-seq
MIRT1394505	hsa-miR-518a-5p	CLIP-seq
MIRT1394506	hsa-miR-527	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394507	hsa-miR-548ac	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394508	hsa-miR-548d-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394417	hsa-miR-548g	CLIP-seq
MIRT1394509	hsa-miR-548l	CLIP-seq
MIRT1394510	hsa-miR-548n	CLIP-seq
MIRT1394511	hsa-miR-548o	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT1394512	hsa-miR-548z	CLIP-seq
MIRT1394455	hsa-miR-569	CLIP-seq
MIRT1394513	hsa-miR-576-5p	CLIP-seq
MIRT1394419	hsa-miR-590-5p	CLIP-seq
MIRT1394514	hsa-miR-620	CLIP-seq
MIRT1394515	hsa-miR-649	CLIP-seq
MIRT1394516	hsa-miR-676	CLIP-seq
MIRT1394517	hsa-miR-761	CLIP-seq
MIRT1394518	hsa-miR-876-5p	CLIP-seq
MIRT1394519	hsa-miR-922	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394423	hsa-miR-140-3p	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT2118385	hsa-miR-3143	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394478	hsa-miR-338-5p	CLIP-seq
MIRT2118386	hsa-miR-410	CLIP-seq
MIRT1394439	hsa-miR-4282	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT2118387	hsa-miR-4762-3p	CLIP-seq
MIRT2118388	hsa-miR-4766-5p	CLIP-seq
MIRT1394453	hsa-miR-513a-3p	CLIP-seq
MIRT2118389	hsa-miR-543	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394404	hsa-miR-1183	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT1394457	hsa-miR-1243	CLIP-seq
MIRT1394458	hsa-miR-1252	CLIP-seq
MIRT2340486	hsa-miR-1279	CLIP-seq
MIRT2340487	hsa-miR-1299	CLIP-seq
MIRT1394462	hsa-miR-1323	CLIP-seq
MIRT1394423	hsa-miR-140-3p	CLIP-seq
MIRT1394464	hsa-miR-1913	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT2340488	hsa-miR-2467-3p	CLIP-seq
MIRT2340489	hsa-miR-30a	CLIP-seq
MIRT2340490	hsa-miR-30b	CLIP-seq
MIRT2340491	hsa-miR-30c	CLIP-seq
MIRT2340492	hsa-miR-30d	CLIP-seq
MIRT2340493	hsa-miR-30e	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT2118385	hsa-miR-3143	CLIP-seq
MIRT1394476	hsa-miR-3202	CLIP-seq
MIRT2340494	hsa-miR-323-3p	CLIP-seq
MIRT1394477	hsa-miR-324-3p	CLIP-seq
MIRT2340495	hsa-miR-338-3p	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT2340496	hsa-miR-3617	CLIP-seq
MIRT1394482	hsa-miR-3654	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT2340497	hsa-miR-4257	CLIP-seq
MIRT1394487	hsa-miR-4269	CLIP-seq
MIRT2340498	hsa-miR-4325	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT1394492	hsa-miR-4470	CLIP-seq
MIRT2340499	hsa-miR-4495	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT1394494	hsa-miR-4514	CLIP-seq
MIRT2340500	hsa-miR-4528	CLIP-seq
MIRT2340501	hsa-miR-4530	CLIP-seq
MIRT1394496	hsa-miR-4533	CLIP-seq
MIRT1394498	hsa-miR-4692	CLIP-seq
MIRT2340502	hsa-miR-4693-5p	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT1394500	hsa-miR-4742-5p	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT2340503	hsa-miR-4764-5p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT1394504	hsa-miR-490-3p	CLIP-seq
MIRT2340504	hsa-miR-513c	CLIP-seq
MIRT2340505	hsa-miR-514b-5p	CLIP-seq
MIRT2340506	hsa-miR-516b	CLIP-seq
MIRT2118389	hsa-miR-543	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394511	hsa-miR-548o	CLIP-seq
MIRT2340507	hsa-miR-570	CLIP-seq
MIRT2340508	hsa-miR-641	CLIP-seq
MIRT1394515	hsa-miR-649	CLIP-seq
MIRT1394519	hsa-miR-922	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394409	hsa-miR-4659a-3p	CLIP-seq
MIRT1394410	hsa-miR-4659b-3p	CLIP-seq
MIRT2634276	hsa-miR-1	CLIP-seq
MIRT2634277	hsa-miR-101	CLIP-seq
MIRT2634278	hsa-miR-1197	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT2634279	hsa-miR-124	CLIP-seq
MIRT2340486	hsa-miR-1279	CLIP-seq
MIRT1394422	hsa-miR-1303	CLIP-seq
MIRT1394425	hsa-miR-2054	CLIP-seq
MIRT2634280	hsa-miR-206	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT2634281	hsa-miR-219-1-3p	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT2634282	hsa-miR-25	CLIP-seq
MIRT2634283	hsa-miR-296-3p	CLIP-seq
MIRT2634284	hsa-miR-2964a-5p	CLIP-seq
MIRT1394467	hsa-miR-29a	CLIP-seq
MIRT1394468	hsa-miR-29b	CLIP-seq
MIRT1394469	hsa-miR-29c	CLIP-seq
MIRT1394470	hsa-miR-3065-3p	CLIP-seq
MIRT2634285	hsa-miR-31	CLIP-seq
MIRT2634286	hsa-miR-3117-3p	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT2634287	hsa-miR-3129-3p	CLIP-seq
MIRT2634288	hsa-miR-3161	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT2634289	hsa-miR-32	CLIP-seq
MIRT2340494	hsa-miR-323-3p	CLIP-seq
MIRT1394479	hsa-miR-340	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT2634290	hsa-miR-3611	CLIP-seq
MIRT2340496	hsa-miR-3617	CLIP-seq
MIRT2634291	hsa-miR-3622b-5p	CLIP-seq
MIRT2634292	hsa-miR-363	CLIP-seq
MIRT1394433	hsa-miR-3662	CLIP-seq
MIRT2634293	hsa-miR-367	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT2634294	hsa-miR-3673	CLIP-seq
MIRT2634295	hsa-miR-3714	CLIP-seq
MIRT1394435	hsa-miR-380	CLIP-seq
MIRT2634296	hsa-miR-382	CLIP-seq
MIRT2634297	hsa-miR-3910	CLIP-seq
MIRT2118386	hsa-miR-410	CLIP-seq
MIRT1394438	hsa-miR-4279	CLIP-seq
MIRT2340498	hsa-miR-4325	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT2634298	hsa-miR-4477a	CLIP-seq
MIRT2634299	hsa-miR-4491	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT2634300	hsa-miR-4506	CLIP-seq
MIRT1394444	hsa-miR-4643	CLIP-seq
MIRT2634301	hsa-miR-4652-3p	CLIP-seq
MIRT2634302	hsa-miR-4657	CLIP-seq
MIRT1394445	hsa-miR-466	CLIP-seq
MIRT1394497	hsa-miR-4668-3p	CLIP-seq
MIRT1394446	hsa-miR-4698	CLIP-seq
MIRT2634303	hsa-miR-4699-5p	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT2634304	hsa-miR-4735-5p	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT2634305	hsa-miR-4775	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394450	hsa-miR-4789-3p	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT2634306	hsa-miR-488	CLIP-seq
MIRT2634307	hsa-miR-495	CLIP-seq
MIRT2634308	hsa-miR-506	CLIP-seq
MIRT2340504	hsa-miR-513c	CLIP-seq
MIRT2340505	hsa-miR-514b-5p	CLIP-seq
MIRT2634309	hsa-miR-548a-5p	CLIP-seq
MIRT2634310	hsa-miR-548ab	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT2634311	hsa-miR-548ak	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT2634312	hsa-miR-548b-5p	CLIP-seq
MIRT2634313	hsa-miR-548c-5p	CLIP-seq
MIRT2634314	hsa-miR-548d-5p	CLIP-seq
MIRT2634315	hsa-miR-548h	CLIP-seq
MIRT2634316	hsa-miR-548i	CLIP-seq
MIRT2634317	hsa-miR-548j	CLIP-seq
MIRT1394510	hsa-miR-548n	CLIP-seq
MIRT2634318	hsa-miR-548t	CLIP-seq
MIRT2634319	hsa-miR-548w	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT2634320	hsa-miR-548y	CLIP-seq
MIRT2634321	hsa-miR-559	CLIP-seq
MIRT2634322	hsa-miR-562	CLIP-seq
MIRT2634323	hsa-miR-563	CLIP-seq
MIRT2340507	hsa-miR-570	CLIP-seq
MIRT2634324	hsa-miR-571	CLIP-seq
MIRT2634325	hsa-miR-578	CLIP-seq
MIRT2634326	hsa-miR-590-3p	CLIP-seq
MIRT2634327	hsa-miR-613	CLIP-seq
MIRT2340508	hsa-miR-641	CLIP-seq
MIRT2634328	hsa-miR-643	CLIP-seq
MIRT2634329	hsa-miR-758	CLIP-seq
MIRT2634330	hsa-miR-765	CLIP-seq
MIRT1394456	hsa-miR-889	CLIP-seq
MIRT2634331	hsa-miR-92a	CLIP-seq
MIRT2634332	hsa-miR-92b	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT2634276	hsa-miR-1	CLIP-seq
MIRT2634277	hsa-miR-101	CLIP-seq
MIRT2634278	hsa-miR-1197	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT2634279	hsa-miR-124	CLIP-seq
MIRT2340486	hsa-miR-1279	CLIP-seq
MIRT1394422	hsa-miR-1303	CLIP-seq
MIRT1394425	hsa-miR-2054	CLIP-seq
MIRT2634280	hsa-miR-206	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT2634281	hsa-miR-219-1-3p	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT2634282	hsa-miR-25	CLIP-seq
MIRT2634283	hsa-miR-296-3p	CLIP-seq
MIRT2634284	hsa-miR-2964a-5p	CLIP-seq
MIRT2634285	hsa-miR-31	CLIP-seq
MIRT2634286	hsa-miR-3117-3p	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT2634287	hsa-miR-3129-3p	CLIP-seq
MIRT2692175	hsa-miR-3144-3p	CLIP-seq
MIRT2634288	hsa-miR-3161	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT2634289	hsa-miR-32	CLIP-seq
MIRT1394430	hsa-miR-3201	CLIP-seq
MIRT2340494	hsa-miR-323-3p	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT2634290	hsa-miR-3611	CLIP-seq
MIRT2340496	hsa-miR-3617	CLIP-seq
MIRT2634291	hsa-miR-3622b-5p	CLIP-seq
MIRT2634292	hsa-miR-363	CLIP-seq
MIRT1394433	hsa-miR-3662	CLIP-seq
MIRT2634293	hsa-miR-367	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT2634294	hsa-miR-3673	CLIP-seq
MIRT2634295	hsa-miR-3714	CLIP-seq
MIRT1394435	hsa-miR-380	CLIP-seq
MIRT2634297	hsa-miR-3910	CLIP-seq
MIRT1394436	hsa-miR-3925-5p	CLIP-seq
MIRT2118386	hsa-miR-410	CLIP-seq
MIRT1394486	hsa-miR-4263	CLIP-seq
MIRT1394438	hsa-miR-4279	CLIP-seq
MIRT2340498	hsa-miR-4325	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT2634298	hsa-miR-4477a	CLIP-seq
MIRT2634299	hsa-miR-4491	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT2634300	hsa-miR-4506	CLIP-seq
MIRT1394444	hsa-miR-4643	CLIP-seq
MIRT2634301	hsa-miR-4652-3p	CLIP-seq
MIRT2634302	hsa-miR-4657	CLIP-seq
MIRT1394445	hsa-miR-466	CLIP-seq
MIRT1394446	hsa-miR-4698	CLIP-seq
MIRT2692176	hsa-miR-4699-3p	CLIP-seq
MIRT2634303	hsa-miR-4699-5p	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT2634304	hsa-miR-4735-5p	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT2692177	hsa-miR-4777-3p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394450	hsa-miR-4789-3p	CLIP-seq
MIRT1394451	hsa-miR-4791	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT2634308	hsa-miR-506	CLIP-seq
MIRT2340504	hsa-miR-513c	CLIP-seq
MIRT2340505	hsa-miR-514b-5p	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394454	hsa-miR-548c-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394417	hsa-miR-548g	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT2634322	hsa-miR-562	CLIP-seq
MIRT2634323	hsa-miR-563	CLIP-seq
MIRT2340507	hsa-miR-570	CLIP-seq
MIRT2634324	hsa-miR-571	CLIP-seq
MIRT1394513	hsa-miR-576-5p	CLIP-seq
MIRT2634325	hsa-miR-578	CLIP-seq
MIRT2634327	hsa-miR-613	CLIP-seq
MIRT2340508	hsa-miR-641	CLIP-seq
MIRT2634328	hsa-miR-643	CLIP-seq
MIRT2634329	hsa-miR-758	CLIP-seq
MIRT2634330	hsa-miR-765	CLIP-seq
MIRT2692178	hsa-miR-875-5p	CLIP-seq
MIRT1394456	hsa-miR-889	CLIP-seq
MIRT2634331	hsa-miR-92a	CLIP-seq
MIRT2634332	hsa-miR-92b	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000775	Component	Chromosome, centromeric region	TAS
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	16682347
GO:0001650	Component	Fibrillar center	IDA
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	15737063, 15855230, 16682347, 17112726, 17113138, 17349791, 17962804, 18235444, 19629043, 20360068, 20818333, 22885700, 23242214, 24981860, 25173175, 26496610, 29263825, 29867216, 30021884, 33961781, 35271311, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32409525
GO:0005634	Component	Nucleus	TAS	9305759
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007059	Process	Chromosome segregation	IEA
GO:0007062	Process	Sister chromatid cohesion	IBA
GO:0007062	Process	Sister chromatid cohesion	IMP	15917200, 28296084, 29263825
GO:0008278	Component	Cohesin complex	IBA
GO:0008278	Component	Cohesin complex	IDA	11590136
GO:0008278	Component	Cohesin complex	IMP	29263825
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	IDA	11590136
GO:0030892	Component	Mitotic cohesin complex	IPI	23242214
GO:0034087	Process	Establishment of mitotic sister chromatid cohesion	NAS	32409525
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0090307	Process	Mitotic spindle assembly	IMP	11590136
GO:0097431	Component	Mitotic spindle pole	IDA	11590136

MIM	HGNC	e!Ensembl
300826	11355	ENSG00000101972

Q8N3U4

Protein name

Cohesin subunit SA-2 (SCC3 homolog 2) (Stromal antigen 2)

Protein function

Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex

PDB

4PJU , 4PJW , 4PK7 , 6QNX , 7ZJS , 8K4D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08514	STAG	157 → 271	STAG domain	Family

Sequence

MIAAPEIPTDFNLLQESETHFSSDTDFEDIEGKNQKQGKGKTCKKGKKGPAEKGKGGNGG
GKPPSGPNRMNGHHQQNGVENMMLFEVVKMGKSAMQSVVDDWIESYKHDRDIALLDLINF
FIQCSGCKGVVTAEMFRHMQNSEIIRKMTEEFDEDSGDYPLTMAGPQWKKFKSSFCEFIG
VLVRQCQYSIIYDEYMMDTVISLLTGLSDSQVRAFRHTSTLAAMKLMTALVNVALNLSIN
MDNTQRQYEAERNKMIGKRANERLELLLQKRKELQENQDEIENMMNAIFKGVFVHRYRDA
IAEIRAICIEEIGIWMKMYSDAFLNDSYLKYVGWTMHDKQGEVRLKCLTALQGLYYNKEL
NSKLELFTSRFKDRIVSMTLDKEYDVAVQAIKLLTLVLQSSEEVLTAEDCENVYHLVYSA
HRPVAVAAGEFLYKKLFSRRDPEEDGMMKRRGRQGPNANLVKTLVFFFLESELHEHAAYL
VDSMWDCATELLKDWECMNSLLLEEPLSGEEALTDRQESALIEIMLCTIRQAAECHPPVG
RGTGKRVLTAKEKKTQLDDRTKITELFAVALPQLLAKYSVDAEKVTNLLQLPQYFDLEIY
TTGRLEKHLDALLRQIRNIVEKHTDTDVLEACSKTYHALCNEEFTIFNRVDISRSQLIDE
LADKFNRLLEDFLQEGEEPDEDDAYQVLSTLKRITAFHNAHDLSKWDLFACNYKLLKTGI
ENGDMPEQIVIHALQCTHYVILWQLAKITESSSTKEDLLRLKKQMRVFCQICQHYLTNVN
TTVKEQAFTILCDILMIFSHQIMSGGRDMLEPLVYTPDSSLQSELLSFILDHVFIEQDDD
NNSADGQQEDEASKIEALHKRRNLLAAFCKLIVYTVVEMNTAADIFKQYMKYYNDYGDII
KETMSKTRQIDKIQCAKTLILSLQQLFNEMIQENGYNFDRSSSTFSGIKELARRFALTFG
LDQLKTREAIAMLHKDGIEFAFKEPNPQGESHPPLNLAFLDILSEFSSKLLRQDKRTVYV
YLEKFMTFQMSLRREDVWLPLMSYRNSLLAGGDDDTMSVISGISSRGSTVRSKKSKPSTG
KRKVVEGMQLSLTEESSSSDSMWLSREQTLHTPVMMQTPQLTSTIMREPKRLRPEDSFMS
VYPMQTEHHQTPLDYNRRGTSLMEDDEEPIVEDVMMSSEGRIEDLNEGMDFDTMDIDLPP
SKNRRERTELKPDFFDPASIMDESVLGVSMF

Sequence length

1231

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Holoprosencephaly 13, X-linked	Pathogenic; Likely pathogenic	rs2148280047, rs2148209339, rs2522404519, rs1569507848, rs1317614761, rs2057753419	RCV001787300 RCV003148140 RCV003336032 RCV001072112 RCV001072113 RCV001072114 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mullegama-Klein-Martinez syndrome	Likely pathogenic; Pathogenic	rs1216415127, rs2148326568, rs2522404519, rs1569511477, rs1569515507, rs1569507848, rs1569512722, rs1374370833, rs1569520709, rs1602977573	RCV001813902 RCV001823051 RCV003336032 RCV000761369 RCV000761367 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2521414161	RCV003389224	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STAG2-related disorder	Likely pathogenic	rs767025385, rs1569510978, rs1569511477, rs1569515507, rs1569515729	RCV004534271 RCV000680243 RCV000680247 RCV000680244 RCV000680246	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs767025385	RCV005932791	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME XQ25 DUPLICATION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XQ25 MICRODUPLICATION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (131)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	24318971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	21852505, 24318971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28296084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36864496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	37558665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24121789, 24121791, 24270882, 25867412, 28627627, 28691904, 29501732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	24121789, 24121791, 24121792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	34529785, 36727400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22668012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29559730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28819029	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34462321, 34648034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22668012, 24121789, 24822266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28302680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24121789, 24121791, 24270882, 28627627, 28691904, 29501732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28901451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	24121792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22668012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28296084, 32253279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	GENOMICS_ENGLAND_DG	25450604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	30765867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	28296084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	30158690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	30158690, 38279279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28296084, 30447054, 35803560, 38279279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Neurogenic	Neurogenic diabetes insipidus	Pubtator	40456439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35203280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28296084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	30447054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	29088303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35803560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	24088605, 25186949, 25223734, 28691904, 29278534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	36681091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	34529785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21852505, 22668012, 24088605, 24318971, 24356817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21852505, 24088605, 24270882, 24318971, 24356817, 34462321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21852505, 22668012, 24088605, 24356817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	25450604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28296084, 30765867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	1362098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	34596815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30447054, 40456439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	28296084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	31334757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	29088303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23637084, 25450604, 26443594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25450604		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	32253279, 40456439	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	28296084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31157248		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	35203280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24335498, 25550361, 27983727, 27992414, 28220884, 32112433, 32380535, 32675227, 33433047, 36693840, 37088137, 37458189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	36455197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26886259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Megakaryoblastic, of Down Syndrome	Leukemia, Megakaryoblastic, Of Down Syndrome	CTD_human_DG	24056718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	23955599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25550361, 28352327, 29278534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35803560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24318971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22668012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24318971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24121789, 24121791, 24270882, 28627627, 28691904, 29501732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	24121789, 24121791, 24121792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21852505, 24356817, 26871722, 27207471, 29278534, 29501732, 29954776, 30975996, 31157248		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22668012, 24088605, 27500726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27500726, 35388001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	25450604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28296084, 40456439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25006131		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	27992414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25006131, 27992414, 30004110, 32380535, 32675227, 32883299, 34028801, 34529785, 34915860, 35088567, 37558665, 40188457, 40664679	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	23955599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	30004110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21852505, 24088605, 24121791, 24318971, 24822266, 25010205, 25065597, 25074805, 25186949, 25223734, 26871722, 27500726, 28352327, 28430577, 28627627, 28967037, 29954776, 31495782 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24088605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24088605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31157248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33153400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	30447054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	30447054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	30447054, 40456439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	1362098	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	24822266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	24088605, 25010205, 25223734, 30602061, 33930311, 36221002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	40188457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24318971, 33537819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27491809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24121791	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24121792, 24270882, 26838030, 28691904, 31393349, 33712344, 34462321, 34648034, 34793662	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28169993, 28967037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	38279279, 40456439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	CLINVAR_DG	10598819, 10694488, 10934222, 11159547, 11414741, 11493483, 12224001, 14583885, 15359110, 15661030, 15908972, 21707584, 22493517, 24985396, 27209435, 9771704, 9811875 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xq25 DUPLICATION SYNDROME	Xq25 Duplication Syndrome	ORPHANET_DG	25677961, 26443594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xq25 microduplication syndrome	Xq25 Duplication Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xq25 TRIPLICATION SYNDROME	Xq25 Triplication Syndrome	ORPHANET_DG	25677961, 26443594		★★★★★ ★☆☆☆☆ Found in Text Mining only

STAG2 (STAG2 cohesin complex component)