MAP3K1 (mitogen-activated protein kinase kinase kinase 1)

Gene

• Entrez ID: 4214
• Gene name: Mitogen-activated protein kinase kinase kinase 1
• Gene symbol: MAP3K1
• Synonyms (NCBI Gene): MAPKKK1, MEKK, MEKK 1, MEKK1, SRXY6
• Chromosome: 5
• Chromosome location: 5q11.2
• Summary: The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requir

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56160159	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs143853590	G>A,C,T	Likely-benign, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906788	T>A,C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886041049	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1131692053	T>A	Pathogenic	Intron variant
rs1131692186	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554034036	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1561193071	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561198459	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1561199329	TTAGAAATGCTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1561199493	CTTTGGATGGTCAACA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561204571	CATCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1579750361	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004142	hsa-miR-192-5p	Microarray	16822819
MIRT031009	hsa-miR-21-5p	Microarray	18591254
MIRT052565	hsa-let-7a-5p	CLASH	23622248
MIRT047383	hsa-miR-34a-5p	CLASH	23622248
MIRT046560	hsa-let-7g-5p	CLASH	23622248
MIRT046560	hsa-let-7g-5p	CLASH	23622248
MIRT045762	hsa-miR-125a-5p	CLASH	23622248
MIRT042622	hsa-miR-423-3p	CLASH	23622248
MIRT702158	hsa-miR-548ac	HITS-CLIP	23313552
MIRT702157	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT702156	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT702155	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT702154	hsa-miR-548z	HITS-CLIP	23313552
MIRT702153	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT702152	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT702151	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT702150	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT702149	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT702148	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT702147	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT702146	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT702145	hsa-miR-452-5p	HITS-CLIP	23313552
MIRT702144	hsa-miR-4676-3p	HITS-CLIP	23313552
MIRT702143	hsa-miR-892c-3p	HITS-CLIP	23313552
MIRT702142	hsa-miR-509-3p	HITS-CLIP	23313552
MIRT702141	hsa-miR-4703-3p	HITS-CLIP	23313552
MIRT702140	hsa-miR-5585-3p	HITS-CLIP	23313552
MIRT166417	hsa-miR-3646	HITS-CLIP	23824327
MIRT656513	hsa-miR-1252-3p	HITS-CLIP	23824327
MIRT166402	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT656512	hsa-miR-4539	HITS-CLIP	23824327
MIRT656511	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT440285	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT440285	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT166338	hsa-miR-193a-3p	HITS-CLIP	22473208
MIRT166342	hsa-miR-193b-3p	HITS-CLIP	22473208
MIRT166399	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT166400	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT731313	hsa-miR-302a-3p	Luciferase reporter assay	26842910
MIRT731313	hsa-miR-302a-3p	Luciferase reporter assay	26842910
MIRT731314	hsa-miR-302b-3p	Luciferase reporter assay	26842910
MIRT731314	hsa-miR-302b-3p	Luciferase reporter assay	26842910
MIRT731315	hsa-miR-302c-3p	Luciferase reporter assay	26842910
MIRT731315	hsa-miR-302c-3p	Luciferase reporter assay	26842910
MIRT731316	hsa-miR-302d-3p	Luciferase reporter assay	26842910
MIRT731316	hsa-miR-302d-3p	Luciferase reporter assay	26842910
MIRT736426	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT736993	hsa-miR-770-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	34195198
MIRT702158	hsa-miR-548ac	HITS-CLIP	23313552
MIRT702157	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT702156	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT702155	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT702154	hsa-miR-548z	HITS-CLIP	23313552
MIRT702153	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT702152	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT702151	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT702150	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT702149	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT702148	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT702147	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT702146	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT702145	hsa-miR-452-5p	HITS-CLIP	23313552
MIRT702144	hsa-miR-4676-3p	HITS-CLIP	23313552
MIRT702143	hsa-miR-892c-3p	HITS-CLIP	23313552
MIRT702142	hsa-miR-509-3p	HITS-CLIP	23313552
MIRT702141	hsa-miR-4703-3p	HITS-CLIP	23313552
MIRT702140	hsa-miR-5585-3p	HITS-CLIP	23313552
MIRT166417	hsa-miR-3646	HITS-CLIP	23824327
MIRT656513	hsa-miR-1252-3p	HITS-CLIP	23824327
MIRT166402	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT656512	hsa-miR-4539	HITS-CLIP	23824327
MIRT656511	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT755632	hsa-miR-203a-3p	Luciferase reporter assay, Western blotting	35524422
MIRT755675	hsa-miR-1200	Luciferase reporter assay, qRT-PCR	35230926
MIRT1128197	hsa-let-7a	CLIP-seq
MIRT1128198	hsa-let-7b	CLIP-seq
MIRT1128199	hsa-let-7c	CLIP-seq
MIRT1128200	hsa-let-7d	CLIP-seq
MIRT1128201	hsa-let-7e	CLIP-seq
MIRT1128202	hsa-let-7f	CLIP-seq
MIRT1128203	hsa-let-7g	CLIP-seq
MIRT1128204	hsa-let-7i	CLIP-seq
MIRT1128205	hsa-miR-103b	CLIP-seq
MIRT1128206	hsa-miR-105	CLIP-seq
MIRT1128207	hsa-miR-1197	CLIP-seq
MIRT755675	hsa-miR-1200	CLIP-seq
MIRT1128208	hsa-miR-124	CLIP-seq
MIRT1128209	hsa-miR-1246	CLIP-seq
MIRT1128210	hsa-miR-1257	CLIP-seq
MIRT1128211	hsa-miR-125b	CLIP-seq
MIRT1128212	hsa-miR-1278	CLIP-seq
MIRT1128213	hsa-miR-1283	CLIP-seq
MIRT1128214	hsa-miR-1290	CLIP-seq
MIRT1128215	hsa-miR-129-5p	CLIP-seq
MIRT1128216	hsa-miR-1303	CLIP-seq
MIRT1128217	hsa-miR-1324	CLIP-seq
MIRT1128218	hsa-miR-139-5p	CLIP-seq
MIRT1128219	hsa-miR-145	CLIP-seq
MIRT1128220	hsa-miR-146b-3p	CLIP-seq
MIRT1128221	hsa-miR-186	CLIP-seq
MIRT1128222	hsa-miR-18a	CLIP-seq
MIRT1128223	hsa-miR-18b	CLIP-seq
MIRT1128224	hsa-miR-1911	CLIP-seq
MIRT1128225	hsa-miR-193b	CLIP-seq
MIRT1128226	hsa-miR-194	CLIP-seq
MIRT1128227	hsa-miR-196a	CLIP-seq
MIRT1128228	hsa-miR-196b	CLIP-seq
MIRT1128229	hsa-miR-199a-3p	CLIP-seq
MIRT1128230	hsa-miR-199b-3p	CLIP-seq
MIRT1128231	hsa-miR-200b	CLIP-seq
MIRT1128232	hsa-miR-200c	CLIP-seq
MIRT1128233	hsa-miR-202	CLIP-seq
MIRT1128234	hsa-miR-203	CLIP-seq
MIRT1128235	hsa-miR-205	CLIP-seq
MIRT1128236	hsa-miR-2355-5p	CLIP-seq
MIRT1128237	hsa-miR-23a	CLIP-seq
MIRT1128238	hsa-miR-23b	CLIP-seq
MIRT1128239	hsa-miR-23c	CLIP-seq
MIRT1128240	hsa-miR-31	CLIP-seq
MIRT1128241	hsa-miR-3120-3p	CLIP-seq
MIRT1128242	hsa-miR-3126-5p	CLIP-seq
MIRT1128243	hsa-miR-3129-5p	CLIP-seq
MIRT1128244	hsa-miR-3130-3p	CLIP-seq
MIRT1128245	hsa-miR-3133	CLIP-seq
MIRT1128246	hsa-miR-3134	CLIP-seq
MIRT1128247	hsa-miR-3140-5p	CLIP-seq
MIRT1128248	hsa-miR-3143	CLIP-seq
MIRT1128249	hsa-miR-3163	CLIP-seq
MIRT1128250	hsa-miR-3167	CLIP-seq
MIRT1128251	hsa-miR-3173-5p	CLIP-seq
MIRT1128252	hsa-miR-3176	CLIP-seq
MIRT1128253	hsa-miR-320a	CLIP-seq
MIRT1128254	hsa-miR-320b	CLIP-seq
MIRT1128255	hsa-miR-320c	CLIP-seq
MIRT1128256	hsa-miR-320d	CLIP-seq
MIRT1128257	hsa-miR-324-5p	CLIP-seq
MIRT1128258	hsa-miR-331-5p	CLIP-seq
MIRT1128259	hsa-miR-342-3p	CLIP-seq
MIRT1128260	hsa-miR-3529	CLIP-seq
MIRT1128261	hsa-miR-3606	CLIP-seq
MIRT1128262	hsa-miR-3609	CLIP-seq
MIRT1128263	hsa-miR-3611	CLIP-seq
MIRT1128264	hsa-miR-3622a-3p	CLIP-seq
MIRT1128265	hsa-miR-3622b-3p	CLIP-seq
MIRT1128266	hsa-miR-3622b-5p	CLIP-seq
MIRT1128267	hsa-miR-3647-3p	CLIP-seq
MIRT1128268	hsa-miR-3662	CLIP-seq
MIRT1128269	hsa-miR-3686	CLIP-seq
MIRT1128270	hsa-miR-376a	CLIP-seq
MIRT1128271	hsa-miR-376b	CLIP-seq
MIRT1128272	hsa-miR-377	CLIP-seq
MIRT1128273	hsa-miR-379	CLIP-seq
MIRT1128274	hsa-miR-3920	CLIP-seq
MIRT1128275	hsa-miR-3922-3p	CLIP-seq
MIRT1128276	hsa-miR-3927	CLIP-seq
MIRT1128277	hsa-miR-3941	CLIP-seq
MIRT1128278	hsa-miR-3945	CLIP-seq
MIRT1128279	hsa-miR-3973	CLIP-seq
MIRT1128280	hsa-miR-411	CLIP-seq
MIRT1128281	hsa-miR-4253	CLIP-seq
MIRT1128282	hsa-miR-4277	CLIP-seq
MIRT1128283	hsa-miR-4282	CLIP-seq
MIRT1128284	hsa-miR-4286	CLIP-seq
MIRT1128285	hsa-miR-4289	CLIP-seq
MIRT1128286	hsa-miR-429	CLIP-seq
MIRT1128287	hsa-miR-4319	CLIP-seq
MIRT1128288	hsa-miR-4324	CLIP-seq
MIRT1128289	hsa-miR-4327	CLIP-seq
MIRT1128290	hsa-miR-433	CLIP-seq
MIRT1128291	hsa-miR-4419a	CLIP-seq
MIRT1128292	hsa-miR-4427	CLIP-seq
MIRT1128293	hsa-miR-4429	CLIP-seq
MIRT1128294	hsa-miR-4432	CLIP-seq
MIRT1128295	hsa-miR-4446-5p	CLIP-seq
MIRT1128296	hsa-miR-4451	CLIP-seq
MIRT1128297	hsa-miR-4458	CLIP-seq
MIRT1128298	hsa-miR-4471	CLIP-seq
MIRT1128299	hsa-miR-4500	CLIP-seq
MIRT1128300	hsa-miR-4510	CLIP-seq
MIRT1128301	hsa-miR-4534	CLIP-seq
MIRT1128302	hsa-miR-4640-5p	CLIP-seq
MIRT1128303	hsa-miR-4650-3p	CLIP-seq
MIRT1128304	hsa-miR-4652-3p	CLIP-seq
MIRT1128305	hsa-miR-466	CLIP-seq
MIRT1128306	hsa-miR-4670-3p	CLIP-seq
MIRT1128307	hsa-miR-4672	CLIP-seq
MIRT1128308	hsa-miR-4680-3p	CLIP-seq
MIRT1128309	hsa-miR-4699-3p	CLIP-seq
MIRT1128310	hsa-miR-4705	CLIP-seq
MIRT1128311	hsa-miR-4709-5p	CLIP-seq
MIRT1128312	hsa-miR-4712-3p	CLIP-seq
MIRT1128313	hsa-miR-4712-5p	CLIP-seq
MIRT1128314	hsa-miR-4726-5p	CLIP-seq
MIRT1128315	hsa-miR-4732-3p	CLIP-seq
MIRT1128316	hsa-miR-4735-3p	CLIP-seq
MIRT1128317	hsa-miR-4738-3p	CLIP-seq
MIRT1128318	hsa-miR-4755-5p	CLIP-seq
MIRT1128319	hsa-miR-4757-5p	CLIP-seq
MIRT1128320	hsa-miR-4774-5p	CLIP-seq
MIRT1128321	hsa-miR-4789-5p	CLIP-seq
MIRT1128322	hsa-miR-4790-3p	CLIP-seq
MIRT1128323	hsa-miR-4793-3p	CLIP-seq
MIRT1128324	hsa-miR-488	CLIP-seq
MIRT1128325	hsa-miR-493	CLIP-seq
MIRT1128326	hsa-miR-495	CLIP-seq
MIRT1128327	hsa-miR-501-5p	CLIP-seq
MIRT1128328	hsa-miR-506	CLIP-seq
MIRT1128329	hsa-miR-520d-5p	CLIP-seq
MIRT1128330	hsa-miR-524-5p	CLIP-seq
MIRT1128331	hsa-miR-541	CLIP-seq
MIRT1128332	hsa-miR-543	CLIP-seq
MIRT1128333	hsa-miR-544	CLIP-seq
MIRT1128334	hsa-miR-544b	CLIP-seq
MIRT1128335	hsa-miR-545	CLIP-seq
MIRT1128336	hsa-miR-548a-5p	CLIP-seq
MIRT1128337	hsa-miR-548aa	CLIP-seq
MIRT1128338	hsa-miR-548ab	CLIP-seq
MIRT1128339	hsa-miR-548ad	CLIP-seq
MIRT1128340	hsa-miR-548ah	CLIP-seq
MIRT1128341	hsa-miR-548ak	CLIP-seq
MIRT1128342	hsa-miR-548an	CLIP-seq
MIRT1128343	hsa-miR-548b-5p	CLIP-seq
MIRT1128344	hsa-miR-548c-3p	CLIP-seq
MIRT1128345	hsa-miR-548c-5p	CLIP-seq
MIRT1128346	hsa-miR-548d-5p	CLIP-seq
MIRT1128347	hsa-miR-548h	CLIP-seq
MIRT1128348	hsa-miR-548i	CLIP-seq
MIRT1128349	hsa-miR-548j	CLIP-seq
MIRT1128350	hsa-miR-548u	CLIP-seq
MIRT1128351	hsa-miR-548w	CLIP-seq
MIRT1128352	hsa-miR-548y	CLIP-seq
MIRT1128353	hsa-miR-559	CLIP-seq
MIRT1128354	hsa-miR-580	CLIP-seq
MIRT1128355	hsa-miR-582-5p	CLIP-seq
MIRT1128356	hsa-miR-590-3p	CLIP-seq
MIRT1128357	hsa-miR-627	CLIP-seq
MIRT1128358	hsa-miR-630	CLIP-seq
MIRT1128359	hsa-miR-634	CLIP-seq
MIRT1128360	hsa-miR-654-5p	CLIP-seq
MIRT1128361	hsa-miR-670	CLIP-seq
MIRT1128362	hsa-miR-874	CLIP-seq
MIRT1128363	hsa-miR-876-5p	CLIP-seq
MIRT1128364	hsa-miR-888	CLIP-seq
MIRT1128365	hsa-miR-9	CLIP-seq
MIRT1128366	hsa-miR-924	CLIP-seq
MIRT1128367	hsa-miR-98	CLIP-seq
MIRT1128237	hsa-miR-23a	CLIP-seq
MIRT1128238	hsa-miR-23b	CLIP-seq
MIRT1128239	hsa-miR-23c	CLIP-seq
MIRT1128269	hsa-miR-3686	CLIP-seq
MIRT1128304	hsa-miR-4652-3p	CLIP-seq
MIRT1128197	hsa-let-7a	CLIP-seq
MIRT1128198	hsa-let-7b	CLIP-seq
MIRT1128199	hsa-let-7c	CLIP-seq
MIRT1128200	hsa-let-7d	CLIP-seq
MIRT1128201	hsa-let-7e	CLIP-seq
MIRT1128202	hsa-let-7f	CLIP-seq
MIRT1128203	hsa-let-7g	CLIP-seq
MIRT1128204	hsa-let-7i	CLIP-seq
MIRT1128207	hsa-miR-1197	CLIP-seq
MIRT2036471	hsa-miR-137	CLIP-seq
MIRT1128219	hsa-miR-145	CLIP-seq
MIRT1128227	hsa-miR-196a	CLIP-seq
MIRT1128228	hsa-miR-196b	CLIP-seq
MIRT1128229	hsa-miR-199a-3p	CLIP-seq
MIRT1128230	hsa-miR-199b-3p	CLIP-seq
MIRT1128233	hsa-miR-202	CLIP-seq
MIRT1128234	hsa-miR-203	CLIP-seq
MIRT1128235	hsa-miR-205	CLIP-seq
MIRT1128236	hsa-miR-2355-5p	CLIP-seq
MIRT1128237	hsa-miR-23a	CLIP-seq
MIRT1128238	hsa-miR-23b	CLIP-seq
MIRT1128239	hsa-miR-23c	CLIP-seq
MIRT2036472	hsa-miR-2681	CLIP-seq
MIRT1128240	hsa-miR-31	CLIP-seq
MIRT1128241	hsa-miR-3120-3p	CLIP-seq
MIRT1128243	hsa-miR-3129-5p	CLIP-seq
MIRT1128249	hsa-miR-3163	CLIP-seq
MIRT1128257	hsa-miR-324-5p	CLIP-seq
MIRT1128258	hsa-miR-331-5p	CLIP-seq
MIRT2036473	hsa-miR-33a	CLIP-seq
MIRT2036474	hsa-miR-33b	CLIP-seq
MIRT1128260	hsa-miR-3529	CLIP-seq
MIRT2036475	hsa-miR-3591-3p	CLIP-seq
MIRT1128262	hsa-miR-3609	CLIP-seq
MIRT1128263	hsa-miR-3611	CLIP-seq
MIRT2036476	hsa-miR-3613-3p	CLIP-seq
MIRT1128264	hsa-miR-3622a-3p	CLIP-seq
MIRT1128265	hsa-miR-3622b-3p	CLIP-seq
MIRT1128268	hsa-miR-3662	CLIP-seq
MIRT2036477	hsa-miR-371-5p	CLIP-seq
MIRT1128272	hsa-miR-377	CLIP-seq
MIRT1128273	hsa-miR-379	CLIP-seq
MIRT2036478	hsa-miR-409-3p	CLIP-seq
MIRT1128280	hsa-miR-411	CLIP-seq
MIRT2036479	hsa-miR-4256	CLIP-seq
MIRT2036480	hsa-miR-4275	CLIP-seq
MIRT2036481	hsa-miR-4276	CLIP-seq
MIRT1128283	hsa-miR-4282	CLIP-seq
MIRT1128284	hsa-miR-4286	CLIP-seq
MIRT1128285	hsa-miR-4289	CLIP-seq
MIRT1128292	hsa-miR-4427	CLIP-seq
MIRT1128296	hsa-miR-4451	CLIP-seq
MIRT1128297	hsa-miR-4458	CLIP-seq
MIRT1128299	hsa-miR-4500	CLIP-seq
MIRT2036482	hsa-miR-4642	CLIP-seq
MIRT1128303	hsa-miR-4650-3p	CLIP-seq
MIRT1128306	hsa-miR-4670-3p	CLIP-seq
MIRT1128313	hsa-miR-4712-5p	CLIP-seq
MIRT1128317	hsa-miR-4738-3p	CLIP-seq
MIRT2036483	hsa-miR-4764-3p	CLIP-seq
MIRT1128326	hsa-miR-495	CLIP-seq
MIRT2036484	hsa-miR-499-3p	CLIP-seq
MIRT2036485	hsa-miR-499a-3p	CLIP-seq
MIRT1128327	hsa-miR-501-5p	CLIP-seq
MIRT1128334	hsa-miR-544b	CLIP-seq
MIRT1128335	hsa-miR-545	CLIP-seq
MIRT1128340	hsa-miR-548ah	CLIP-seq
MIRT1128344	hsa-miR-548c-3p	CLIP-seq
MIRT2036486	hsa-miR-570	CLIP-seq
MIRT1128355	hsa-miR-582-5p	CLIP-seq
MIRT2036487	hsa-miR-618	CLIP-seq
MIRT2036488	hsa-miR-664	CLIP-seq
MIRT1128364	hsa-miR-888	CLIP-seq
MIRT1128365	hsa-miR-9	CLIP-seq
MIRT1128367	hsa-miR-98	CLIP-seq
MIRT1128197	hsa-let-7a	CLIP-seq
MIRT1128198	hsa-let-7b	CLIP-seq
MIRT1128199	hsa-let-7c	CLIP-seq
MIRT1128200	hsa-let-7d	CLIP-seq
MIRT1128201	hsa-let-7e	CLIP-seq
MIRT1128202	hsa-let-7f	CLIP-seq
MIRT1128203	hsa-let-7g	CLIP-seq
MIRT1128204	hsa-let-7i	CLIP-seq
MIRT1128205	hsa-miR-103b	CLIP-seq
MIRT2266719	hsa-miR-1183	CLIP-seq
MIRT1128207	hsa-miR-1197	CLIP-seq
MIRT1128209	hsa-miR-1246	CLIP-seq
MIRT1128211	hsa-miR-125b	CLIP-seq
MIRT2266720	hsa-miR-1276	CLIP-seq
MIRT2266721	hsa-miR-129-3p	CLIP-seq
MIRT2266722	hsa-miR-1322	CLIP-seq
MIRT1128217	hsa-miR-1324	CLIP-seq
MIRT2266723	hsa-miR-143	CLIP-seq
MIRT2266724	hsa-miR-144	CLIP-seq
MIRT1128219	hsa-miR-145	CLIP-seq
MIRT2266725	hsa-miR-1537	CLIP-seq
MIRT2266726	hsa-miR-191	CLIP-seq
MIRT1128225	hsa-miR-193b	CLIP-seq
MIRT1128227	hsa-miR-196a	CLIP-seq
MIRT1128228	hsa-miR-196b	CLIP-seq
MIRT1128229	hsa-miR-199a-3p	CLIP-seq
MIRT1128230	hsa-miR-199b-3p	CLIP-seq
MIRT2266727	hsa-miR-19a	CLIP-seq
MIRT2266728	hsa-miR-19b	CLIP-seq
MIRT1128233	hsa-miR-202	CLIP-seq
MIRT1128234	hsa-miR-203	CLIP-seq
MIRT1128235	hsa-miR-205	CLIP-seq
MIRT1128236	hsa-miR-2355-5p	CLIP-seq
MIRT2036472	hsa-miR-2681	CLIP-seq
MIRT2266729	hsa-miR-2964a-3p	CLIP-seq
MIRT2266730	hsa-miR-298	CLIP-seq
MIRT1128240	hsa-miR-31	CLIP-seq
MIRT1128241	hsa-miR-3120-3p	CLIP-seq
MIRT1128242	hsa-miR-3126-5p	CLIP-seq
MIRT1128243	hsa-miR-3129-5p	CLIP-seq
MIRT1128247	hsa-miR-3140-5p	CLIP-seq
MIRT1128249	hsa-miR-3163	CLIP-seq
MIRT1128252	hsa-miR-3176	CLIP-seq
MIRT1128253	hsa-miR-320a	CLIP-seq
MIRT1128254	hsa-miR-320b	CLIP-seq
MIRT1128255	hsa-miR-320c	CLIP-seq
MIRT1128256	hsa-miR-320d	CLIP-seq
MIRT1128257	hsa-miR-324-5p	CLIP-seq
MIRT2266731	hsa-miR-330-3p	CLIP-seq
MIRT1128258	hsa-miR-331-5p	CLIP-seq
MIRT2266732	hsa-miR-34c-3p	CLIP-seq
MIRT1128260	hsa-miR-3529	CLIP-seq
MIRT2266733	hsa-miR-3591-5p	CLIP-seq
MIRT2266734	hsa-miR-3607-3p	CLIP-seq
MIRT1128262	hsa-miR-3609	CLIP-seq
MIRT1128263	hsa-miR-3611	CLIP-seq
MIRT2266735	hsa-miR-3613-5p	CLIP-seq
MIRT1128264	hsa-miR-3622a-3p	CLIP-seq
MIRT1128265	hsa-miR-3622b-3p	CLIP-seq
MIRT2266736	hsa-miR-3653	CLIP-seq
MIRT2266737	hsa-miR-3658	CLIP-seq
MIRT1128268	hsa-miR-3662	CLIP-seq
MIRT2266738	hsa-miR-3678-3p	CLIP-seq
MIRT2266739	hsa-miR-3691-3p	CLIP-seq
MIRT2036477	hsa-miR-371-5p	CLIP-seq
MIRT1128270	hsa-miR-376a	CLIP-seq
MIRT1128271	hsa-miR-376b	CLIP-seq
MIRT1128272	hsa-miR-377	CLIP-seq
MIRT1128273	hsa-miR-379	CLIP-seq
MIRT1128275	hsa-miR-3922-3p	CLIP-seq
MIRT2266740	hsa-miR-3978	CLIP-seq
MIRT1128280	hsa-miR-411	CLIP-seq
MIRT2036479	hsa-miR-4256	CLIP-seq
MIRT2266741	hsa-miR-4261	CLIP-seq
MIRT2036480	hsa-miR-4275	CLIP-seq
MIRT2036481	hsa-miR-4276	CLIP-seq
MIRT2266742	hsa-miR-4280	CLIP-seq
MIRT1128283	hsa-miR-4282	CLIP-seq
MIRT1128284	hsa-miR-4286	CLIP-seq
MIRT1128285	hsa-miR-4289	CLIP-seq
MIRT2266743	hsa-miR-4308	CLIP-seq
MIRT2266744	hsa-miR-4311	CLIP-seq
MIRT1128287	hsa-miR-4319	CLIP-seq
MIRT1128289	hsa-miR-4327	CLIP-seq
MIRT1128290	hsa-miR-433	CLIP-seq
MIRT1128291	hsa-miR-4419a	CLIP-seq
MIRT1128292	hsa-miR-4427	CLIP-seq
MIRT1128293	hsa-miR-4429	CLIP-seq
MIRT1128295	hsa-miR-4446-5p	CLIP-seq
MIRT1128296	hsa-miR-4451	CLIP-seq
MIRT1128297	hsa-miR-4458	CLIP-seq
MIRT1128298	hsa-miR-4471	CLIP-seq
MIRT2266745	hsa-miR-4495	CLIP-seq
MIRT1128299	hsa-miR-4500	CLIP-seq
MIRT2266746	hsa-miR-451	CLIP-seq
MIRT1128300	hsa-miR-4510	CLIP-seq
MIRT2266747	hsa-miR-4640-3p	CLIP-seq
MIRT1128302	hsa-miR-4640-5p	CLIP-seq
MIRT2036482	hsa-miR-4642	CLIP-seq
MIRT1128303	hsa-miR-4650-3p	CLIP-seq
MIRT2266748	hsa-miR-4660	CLIP-seq
MIRT2266749	hsa-miR-4668-3p	CLIP-seq
MIRT1128306	hsa-miR-4670-3p	CLIP-seq
MIRT1128308	hsa-miR-4680-3p	CLIP-seq
MIRT2266750	hsa-miR-4687-5p	CLIP-seq
MIRT1128309	hsa-miR-4699-3p	CLIP-seq
MIRT1128310	hsa-miR-4705	CLIP-seq
MIRT1128312	hsa-miR-4712-3p	CLIP-seq
MIRT1128313	hsa-miR-4712-5p	CLIP-seq
MIRT1128314	hsa-miR-4726-5p	CLIP-seq
MIRT1128315	hsa-miR-4732-3p	CLIP-seq
MIRT1128317	hsa-miR-4738-3p	CLIP-seq
MIRT1128318	hsa-miR-4755-5p	CLIP-seq
MIRT1128319	hsa-miR-4757-5p	CLIP-seq
MIRT2266751	hsa-miR-4770	CLIP-seq
MIRT1128321	hsa-miR-4789-5p	CLIP-seq
MIRT1128326	hsa-miR-495	CLIP-seq
MIRT1128327	hsa-miR-501-5p	CLIP-seq
MIRT1128334	hsa-miR-544b	CLIP-seq
MIRT1128335	hsa-miR-545	CLIP-seq
MIRT1128337	hsa-miR-548aa	CLIP-seq
MIRT1128340	hsa-miR-548ah	CLIP-seq
MIRT1128344	hsa-miR-548c-3p	CLIP-seq
MIRT2266752	hsa-miR-568	CLIP-seq
MIRT1128355	hsa-miR-582-5p	CLIP-seq
MIRT2266753	hsa-miR-583	CLIP-seq
MIRT1128359	hsa-miR-634	CLIP-seq
MIRT2266754	hsa-miR-643	CLIP-seq
MIRT2036488	hsa-miR-664	CLIP-seq
MIRT1128361	hsa-miR-670	CLIP-seq
MIRT2266755	hsa-miR-875-3p	CLIP-seq
MIRT2266756	hsa-miR-885-3p	CLIP-seq
MIRT2266757	hsa-miR-887	CLIP-seq
MIRT1128364	hsa-miR-888	CLIP-seq
MIRT2266758	hsa-miR-890	CLIP-seq
MIRT1128365	hsa-miR-9	CLIP-seq
MIRT2266759	hsa-miR-938	CLIP-seq
MIRT1128367	hsa-miR-98	CLIP-seq
MIRT1128197	hsa-let-7a	CLIP-seq
MIRT1128198	hsa-let-7b	CLIP-seq
MIRT1128199	hsa-let-7c	CLIP-seq
MIRT1128200	hsa-let-7d	CLIP-seq
MIRT1128201	hsa-let-7e	CLIP-seq
MIRT1128202	hsa-let-7f	CLIP-seq
MIRT1128203	hsa-let-7g	CLIP-seq
MIRT1128204	hsa-let-7i	CLIP-seq
MIRT1128206	hsa-miR-105	CLIP-seq
MIRT1128207	hsa-miR-1197	CLIP-seq
MIRT1128212	hsa-miR-1278	CLIP-seq
MIRT1128227	hsa-miR-196a	CLIP-seq
MIRT1128228	hsa-miR-196b	CLIP-seq
MIRT1128233	hsa-miR-202	CLIP-seq
MIRT1128241	hsa-miR-3120-3p	CLIP-seq
MIRT1128264	hsa-miR-3622a-3p	CLIP-seq
MIRT1128265	hsa-miR-3622b-3p	CLIP-seq
MIRT1128272	hsa-miR-377	CLIP-seq
MIRT1128276	hsa-miR-3927	CLIP-seq
MIRT1128280	hsa-miR-411	CLIP-seq
MIRT1128285	hsa-miR-4289	CLIP-seq
MIRT1128297	hsa-miR-4458	CLIP-seq
MIRT1128299	hsa-miR-4500	CLIP-seq
MIRT1128334	hsa-miR-544b	CLIP-seq
MIRT1128335	hsa-miR-545	CLIP-seq
MIRT2390559	hsa-miR-767-5p	CLIP-seq
MIRT1128364	hsa-miR-888	CLIP-seq
MIRT1128367	hsa-miR-98	CLIP-seq
MIRT1128221	hsa-miR-186	CLIP-seq
MIRT1128240	hsa-miR-31	CLIP-seq
MIRT1128245	hsa-miR-3133	CLIP-seq
MIRT1128249	hsa-miR-3163	CLIP-seq
MIRT1128253	hsa-miR-320a	CLIP-seq
MIRT1128254	hsa-miR-320b	CLIP-seq
MIRT1128255	hsa-miR-320c	CLIP-seq
MIRT1128256	hsa-miR-320d	CLIP-seq
MIRT1128257	hsa-miR-324-5p	CLIP-seq
MIRT1128268	hsa-miR-3662	CLIP-seq
MIRT1128280	hsa-miR-411	CLIP-seq
MIRT1128293	hsa-miR-4429	CLIP-seq
MIRT1128313	hsa-miR-4712-5p	CLIP-seq
MIRT1128327	hsa-miR-501-5p	CLIP-seq
MIRT1128344	hsa-miR-548c-3p	CLIP-seq
MIRT1128221	hsa-miR-186	CLIP-seq
MIRT1128245	hsa-miR-3133	CLIP-seq
MIRT1128344	hsa-miR-548c-3p	CLIP-seq
MIRT2266721	hsa-miR-129-3p	CLIP-seq
MIRT2266724	hsa-miR-144	CLIP-seq
MIRT1128222	hsa-miR-18a	CLIP-seq
MIRT1128223	hsa-miR-18b	CLIP-seq
MIRT1128234	hsa-miR-203	CLIP-seq
MIRT1128241	hsa-miR-3120-3p	CLIP-seq
MIRT1128260	hsa-miR-3529	CLIP-seq
MIRT1128262	hsa-miR-3609	CLIP-seq
MIRT1128263	hsa-miR-3611	CLIP-seq
MIRT1128272	hsa-miR-377	CLIP-seq
MIRT1128273	hsa-miR-379	CLIP-seq
MIRT1128277	hsa-miR-3941	CLIP-seq
MIRT2036479	hsa-miR-4256	CLIP-seq
MIRT1128285	hsa-miR-4289	CLIP-seq
MIRT2266743	hsa-miR-4308	CLIP-seq
MIRT1128296	hsa-miR-4451	CLIP-seq
MIRT1128303	hsa-miR-4650-3p	CLIP-seq
MIRT1128305	hsa-miR-466	CLIP-seq
MIRT1128306	hsa-miR-4670-3p	CLIP-seq
MIRT1128307	hsa-miR-4672	CLIP-seq
MIRT2266750	hsa-miR-4687-5p	CLIP-seq
MIRT1128316	hsa-miR-4735-3p	CLIP-seq
MIRT1128335	hsa-miR-545	CLIP-seq
MIRT1128340	hsa-miR-548ah	CLIP-seq
MIRT2036488	hsa-miR-664	CLIP-seq
MIRT2266755	hsa-miR-875-3p	CLIP-seq
MIRT1128365	hsa-miR-9	CLIP-seq
MIRT2266759	hsa-miR-938	CLIP-seq
MIRT2266721	hsa-miR-129-3p	CLIP-seq
MIRT1128222	hsa-miR-18a	CLIP-seq
MIRT1128223	hsa-miR-18b	CLIP-seq
MIRT1128241	hsa-miR-3120-3p	CLIP-seq
MIRT1128272	hsa-miR-377	CLIP-seq
MIRT1128277	hsa-miR-3941	CLIP-seq
MIRT2266743	hsa-miR-4308	CLIP-seq
MIRT1128305	hsa-miR-466	CLIP-seq
MIRT1128306	hsa-miR-4670-3p	CLIP-seq
MIRT1128307	hsa-miR-4672	CLIP-seq
MIRT2266750	hsa-miR-4687-5p	CLIP-seq
MIRT1128316	hsa-miR-4735-3p	CLIP-seq
MIRT1128335	hsa-miR-545	CLIP-seq
MIRT2266755	hsa-miR-875-3p	CLIP-seq
MIRT2266759	hsa-miR-938	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF2	Unknown	9710625
JUN	Unknown	9710625

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	15001576
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	7997270, 9639556
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004709	Function	MAP kinase kinase kinase activity	IEA
GO:0004709	Function	MAP kinase kinase kinase activity	NAS	9808624
GO:0004709	Function	MAP kinase kinase kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	9808624, 11784851, 14743216, 16810323, 16888650, 19270716, 20940704
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	NAS	9808624
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	17906693
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070160	Component	Tight junction	IDA	24567356
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 600982
• HGNC: 6848
• e!Ensembl: ENSG00000095015

Protein

• UniProt ID: Q13233
• Protein name: Mitogen-activated protein kinase kinase kinase 1 (EC 2.7.11.25) (MAPK/ERK kinase kinase 1) (MEK kinase 1) (MEKK 1) (EC 2.3.2.27)
• Protein function: Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates
• PDB: 6WHB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	1243 → 1508	Protein kinase domain	Domain

• Sequence:

  MAAAAGNRASSSGFPGARATSPEAGGGGGALKASSAPAAAAGLLREAGSGGRERADWRRR
  QLRKVRSVELDQLPEQPLFLAASPPASSTSPSPEPADAAGSGTGFQPVAVPPPHGAASRG
  GAHLTESVAAPDSGASSPAAAEPGEKRAPAAEPSPAAAPAGREMENKETLKGLHKMDDRP
  EERMIREKLKATCMPAWKHEWLERRNRRGPVVVKPIPVKGDGSEMNHLAAESPGEVQASA
  ASPASKGRRSPSPGNSPSGRTVKSESPGVRRKRVSPVPFQSGRITPPRRAPSPDGFSPYS
  PEETNRRVNKVMRARLYLLQQIGPNSFLIGGDSPDNKYRVFIGPQNCSCARGTFCIHLLF
  VMLRVFQLEPSDPMLWRKTLKNFEVESLFQKYHSRRSSRIKAPSRNTIQKFVSRMSNSHT
  LSSSSTSTSSSENSIKDEEEQMCPICLLGMLDEESLTVCEDGCRNKLHHHCMSIWAEECR
  RNREPLICPLCRSKWRSHDFYSHELSSPVDSPSSLRAAQQQTVQQQPLAGSRRNQESNFN
  LTHYGTQQIPPAYKDLAEPWIQVFGMELVGCLFSRNWNVREMALRRLSHDVSGALLLANG
  ESTGNSGGSSGSSPSGGATSGSSQTSISGDVVEACCSVLSMVCADPVYKVYVAALKTLRA
  MLVYTPCHSLAERIKLQRLLQPVVDTILVKCADANSRTSQLSISTLLELCKGQAGELAVG
  REILKAGSIGIGGVDYVLNCILGNQTESNNWQELLGRLCLIDRLLLEFPAEFYPHIVSTD
  VSQAEPVEIRYKKLLSLLTFALQSIDNSHSMVGKLSRRIYLSSARMVTTVPHVFSKLLEM
  LSVSSSTHFTRMRRRLMAIADEVEIAEAIQLGVEDTLDGQQDSFLQASVPNNYLETTENS
  SPECTVHLEKTGKGLCATKLSASSEDISERLASISVGPSSSTTTTTTTTEQPKPMVQTKG
  RPHSQCLNSSPLSHHSQLMFPALSTPSSSTPSVPAGTATDVSKHRLQGFIPCRIPSASPQ
  TQRKFSLQFHRNCPENKDSDKLSPVFTQSRPLPSSNIHRPKPSRPTPGNTSKQGDPSKNS
  MTLDLNSSSKCDDSFGCSSNSSNAVIPSDETVFTPVEEKCRLDVNTELNSSIEDLLEASM
  PSSDTTVTFKSEVAVLSPEKAENDDTYKDDVNHNQKCKEKMEAEEEEALAIAMAMSASQD
  ALPIVPQLQVENGEDIIIIQQDTPETLPGHTKAKQPYREDTEWLKGQQIGLGAFSSCYQA
  QDVGTGTLMAVKQVTYVRNTSSEQEEVVEALREEIRMMSHLNHPNIIRMLGATCEKSNYN
  LFIEWMAGGSVAHLLSKYGAFKESVVINYTEQLLRGLSYLHENQIIHRDVKGANLLIDST
  GQRLRIADFGAAARLASKGTGAGEFQGQLLGTIAFMAPEVLRGQQYGRSCDVWSVGCAII
  EMACAKPPWNAEKHSNHLALIFKIASATTAPSIPSHLSPGLRDVALRCLELQPQDRPPSR
  ELLKHPVFRTTW

• Sequence length: 1512

Pathways

KEGG:

MAPK signaling pathway
Ubiquitin mediated proteolysis
Tight junction
RIG-I-like receptor signaling pathway
Neurotrophin signaling pathway
GnRH signaling pathway
Growth hormone synthesis, secretion and action
Hepatitis B
Human T-cell leukemia virus 1 infection

Reactome:

MyD88:MAL(TIRAP) cascade initiated on plasma membrane
FCERI mediated MAPK activation
TRAF6 mediated NF-kB activation
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 cascade initiated on plasma membrane

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
46,XY sex reversal 6	Likely pathogenic; Pathogenic	rs886041049, rs2530964031, rs2530926325, rs1131692053, rs387906788, rs1131692186, rs1554034036, rs1579750361	RCV000258799 RCV003237407 RCV003527459 RCV000023055 RCV000023057 RCV000023058 RCV000495856 RCV000495857 RCV000535504 RCV000804251	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAP3K1-related disorder	Pathogenic	rs387906788	RCV003407356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Pathogenic; Likely pathogenic	rs1561193071, rs1561198459, rs1561199329, rs1561199493, rs1561204571	RCV000785576 RCV000785371 RCV000785381 RCV000785357 RCV000785362	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY PARTIAL GONADAL DYSGENESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing loss	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary cancer-predisposing syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWYER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	21129722, 28504475, 30608580		★☆☆☆☆ Found in Text Mining only
46,XY complete gonadal dysgenesis	46, XY complete gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	21129722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY SEX REVERSAL 6	46, XY Sex Reversal	GENOMICS_ENGLAND_DG	12476449		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY SEX REVERSAL 6	46, XY Sex Reversal	UNIPROT_DG	21129722		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY SEX REVERSAL 6	46, XY Sex Reversal	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY SEX REVERSAL 6	46, XY Sex Reversal	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	16044153		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	19513748		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	31634687		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30483764		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31575382	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	32338288, 33060765	Associate	★☆☆☆☆ Found in Text Mining only
Aromatase deficiency	Aromatase Deficiency	BEFREE	30550360		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22468730		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27986791		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29339359	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28672935		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	31089267		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17529967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	17997823, 18355772, 18437204, 19028704, 19617217, 19656774, 20145138, 20809358, 21197568, 21475998, 21996731, 22452962, 22532573, 22638769, 22910930, 22965832, 23225170, 23634849, 24218030, 24253898, 24595411, 24759887, 24993294, 25529635, 26458823, 26803517, 26842910, 27572905, 28029147, 28178648, 28757652, 29372690, 29710529, 31002855, 31620934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	24493630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17529967, 17997823, 18355772, 18437204, 18973230, 19028704, 19094228, 19656774, 19843670, 20605201, 21118973, 21194473, 21475998, 22452962, 22532573, 22722193, 22867275, 22910930, 23000897, 23544012, 23634849, 24218030, 24493630, 24743323, 24759887, 25529635, 26094658, 26458823, 26842910, 28027327, 28029147, 28178648, 28408616, 29339359, 29559730, 30305115, 30649385, 31575382, 32067679, 32366738, 32620845, 33126731, 33191115, 34888385, 35732329, 36709040, 37454130, 38523186, 40305907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	38003265	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	38523186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31586548		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32660222	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34331411	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25352737		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25352737	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30483764		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31686841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28672935, 28802228		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29458332, 35230926, 37314251	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29458332	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18521924		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18308848		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28024901		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	28504475, 33060765, 34112222, 36088066, 36102299, 39285472	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	28504475, 34112222	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36102299	Associate	★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	18785201		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18785201	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26019450	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	9395240		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	31998776	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29452408	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29452408		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31318172		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31318172	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31318172		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31318172		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31318172	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	21129722, 28504475, 28544305		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	28504475, 36088066	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	ORPHANET_DG	21129722		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	26526145, 30608580		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	29339359	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	25899310		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19022249		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	30889489		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	30889489	Associate	★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	30889489		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	28504475	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	30550360		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27486656	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	31686841		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32811810	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	34404765	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12168099		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	14612408		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	19513748, 28672935		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17529967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18355772, 18437204, 19028704, 19617217, 19656774, 20145138, 20809358, 21197568, 21475998, 21996731, 22452962, 22532573, 22638769, 22910930, 22965832, 23000897, 23225170, 23634849, 24218030, 24253898, 24595411, 24759887, 24993294, 25529635, 26458823, 26803517, 26842910, 27572905, 28029147, 28178648, 28757652, 29372690, 29710529, 31002855, 31620934		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	18785201		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31586548		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12185592, 15767210, 19843670		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10373563, 11909978, 28861162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23042672, 24759887, 30122954, 31686841		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19617217, 25529635, 25613373, 31318172		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17529967		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17529967		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17997823, 18355772, 19028704		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17529967		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30483764		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17431123, 24003131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucinous carcinoma of breast	Mucinous Carcinoma Of Breast	BEFREE	30649385		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17431123, 19028704, 21484931, 23077563, 29710529, 29765551, 29795445, 31686841		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24253178		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24253178, 32295184	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26458823		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15205333		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12185592, 15767210, 19843670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12185592		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19843670, 35476515	Associate	★☆☆☆☆ Found in Text Mining only
Penile Diseases	Penile disease	Pubtator	36102299	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	30550360		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	18785201	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10373563, 11909978, 28861162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11971970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28858533		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	23797008	Associate	★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	28504475, 30608580		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23042672, 24759887, 30122954, 31686841		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24759887, 36510163	Associate	★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Swyer Syndrome	Swyer Syndrome	ORPHANET_DG	21129722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular dysgenesis	Testicular dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35524422	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36788078	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	21129722, 28504475, 28544305		★☆☆☆☆ Found in Text Mining only