ARID1A (AT-rich interaction domain 1A)

Gene

• Entrez ID: 8289
• Gene name: AT-rich interaction domain 1A
• Gene symbol: ARID1A
• Synonyms (NCBI Gene): B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs375761808	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906845	C>T	Pathogenic	Coding sequence variant, stop gained
rs387906846	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs797045262	AGCAGCCTGGGCAACCCGCCGCCGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045263	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045264	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs869312956	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs875989848	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs875989849	G>T	Pathogenic	Coding sequence variant, stop gained
rs878853088	C>T	Pathogenic	Coding sequence variant, stop gained
rs879255270	C>T	Pathogenic	Coding sequence variant, stop gained
rs886042036	G>A	Pathogenic	Splice donor variant
rs1057520585	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057523568	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794151	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795682	CTTTGAG>ACATGCAGAAC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796010	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796564	G>A	Likely-pathogenic	Intron variant
rs1085307923	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1485978447	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1553146165	CTACCAGGGCTACCCCGGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553153130	GGG>CTAGGA	Pathogenic	Coding sequence variant, stop gained
rs1553153231	C>T	Drug-response	Intron variant, coding sequence variant, stop gained
rs1553153291	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553153770	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553153771	C>A	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs1557570794	->GCCGCCTCCCTCCTCCAGCGCC	Pathogenic	Coding sequence variant, frameshift variant
rs1557591264	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557612048	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1557620758	AAGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570607996	G>A	Pathogenic	Splice acceptor variant
rs1570609440	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570621899	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570622663	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570623368	GTTTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001385	hsa-miR-1-3p	pSILAC	18668040
MIRT004027	hsa-miR-101-3p	Western blot	19008416
MIRT004027	hsa-miR-101-3p	Western blot	19008416
MIRT004027	hsa-miR-101-3p	Western blot	19008416
MIRT004027	hsa-miR-101-3p	Western blot	19008416
MIRT001385	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT024162	hsa-miR-221-3p	Sequencing	20371350
MIRT004027	hsa-miR-101-3p	Sequencing	20371350
MIRT027653	hsa-miR-98-5p	Microarray	19088304
MIRT051608	hsa-let-7e-5p	CLASH	23622248
MIRT049171	hsa-miR-92a-3p	CLASH	23622248
MIRT049171	hsa-miR-92a-3p	CLASH	23622248
MIRT043438	hsa-miR-331-3p	CLASH	23622248
MIRT042943	hsa-miR-324-3p	CLASH	23622248
MIRT042203	hsa-miR-484	CLASH	23622248
MIRT041580	hsa-miR-193b-3p	CLASH	23622248
MIRT040907	hsa-miR-18a-3p	CLASH	23622248
MIRT038669	hsa-miR-181a-2-3p	CLASH	23622248
MIRT038464	hsa-miR-296-3p	CLASH	23622248
MIRT036956	hsa-miR-877-3p	CLASH	23622248
MIRT248732	hsa-miR-31-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24793973
MIRT248732	hsa-miR-31-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24793973
MIRT248732	hsa-miR-31-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24793973
MIRT248732	hsa-miR-31-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24793973
MIRT689026	hsa-miR-4750-3p	HITS-CLIP	23313552
MIRT689025	hsa-miR-1180-5p	HITS-CLIP	23313552
MIRT689024	hsa-miR-7114-3p	HITS-CLIP	23313552
MIRT689023	hsa-miR-628-5p	HITS-CLIP	23313552
MIRT689022	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT689021	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT562652	hsa-miR-548ac	HITS-CLIP	23824327
MIRT562651	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT562650	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT562649	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT562648	hsa-miR-548z	HITS-CLIP	23824327
MIRT562647	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT562646	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT562645	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT562644	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT562643	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT562642	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT562641	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT660534	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT660533	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT562656	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT562655	hsa-miR-5692a	PAR-CLIP	20371350
MIRT188337	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT188342	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT405485	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT188339	hsa-miR-6134	PAR-CLIP	20371350
MIRT562654	hsa-miR-196a-3p	PAR-CLIP	20371350
MIRT188335	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT188326	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT188327	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT188328	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT568486	hsa-miR-4303	PAR-CLIP	20371350
MIRT562653	hsa-miR-448	PAR-CLIP	20371350
MIRT188334	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT188332	hsa-miR-507	PAR-CLIP	20371350
MIRT188333	hsa-miR-557	PAR-CLIP	20371350
MIRT188336	hsa-miR-3680-3p	PAR-CLIP	20371350
MIRT562652	hsa-miR-548ac	PAR-CLIP	20371350
MIRT562651	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT562650	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT562649	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT562648	hsa-miR-548z	PAR-CLIP	20371350
MIRT562647	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT562646	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT562645	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT562644	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT562643	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT562642	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT562641	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT066772	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT562640	hsa-miR-4708-3p	PAR-CLIP	20371350
MIRT066773	hsa-miR-324-5p	PAR-CLIP	20371350
MIRT066777	hsa-miR-3688-5p	PAR-CLIP	20371350
MIRT066774	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT066779	hsa-miR-4642	PAR-CLIP	20371350
MIRT562656	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT562655	hsa-miR-5692a	PAR-CLIP	20371350
MIRT188337	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT188342	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT405485	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT188339	hsa-miR-6134	PAR-CLIP	20371350
MIRT562654	hsa-miR-196a-3p	PAR-CLIP	20371350
MIRT188335	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT188326	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT188327	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT188328	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT562653	hsa-miR-448	PAR-CLIP	20371350
MIRT188334	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT188332	hsa-miR-507	PAR-CLIP	20371350
MIRT188333	hsa-miR-557	PAR-CLIP	20371350
MIRT188336	hsa-miR-3680-3p	PAR-CLIP	20371350
MIRT562652	hsa-miR-548ac	PAR-CLIP	20371350
MIRT562651	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT562650	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT562649	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT562648	hsa-miR-548z	PAR-CLIP	20371350
MIRT562647	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT562646	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT562645	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT562644	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT562643	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT562642	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT562641	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT066772	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT562640	hsa-miR-4708-3p	PAR-CLIP	20371350
MIRT066773	hsa-miR-324-5p	PAR-CLIP	20371350
MIRT066777	hsa-miR-3688-5p	PAR-CLIP	20371350
MIRT066774	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT066779	hsa-miR-4642	PAR-CLIP	20371350
MIRT004027	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT004027	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT066784	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT248727	hsa-miR-1182	PAR-CLIP	20371350
MIRT188344	hsa-miR-5681a	PAR-CLIP	20371350
MIRT562639	hsa-miR-6730-5p	PAR-CLIP	20371350
MIRT562638	hsa-miR-3618	PAR-CLIP	20371350
MIRT066789	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT188343	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT066782	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT066783	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT066801	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT066808	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT494691	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT066803	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT066806	hsa-miR-4784	PAR-CLIP	23592263
MIRT494690	hsa-miR-4533	PAR-CLIP	23592263
MIRT494689	hsa-miR-3202	PAR-CLIP	23592263
MIRT066794	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT066802	hsa-miR-4306	PAR-CLIP	23592263
MIRT066805	hsa-miR-4644	PAR-CLIP	23592263
MIRT066799	hsa-miR-765	PAR-CLIP	23592263
MIRT494688	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT481596	hsa-miR-377-3p	PAR-CLIP	23592263
MIRT339122	hsa-miR-485-3p	PAR-CLIP	23592263
MIRT339123	hsa-miR-539-3p	PAR-CLIP	23592263
MIRT066797	hsa-miR-583	PAR-CLIP	23592263
MIRT066801	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT066808	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT188347	hsa-miR-4666a-3p	PAR-CLIP	23592263
MIRT339131	hsa-miR-664a-3p	PAR-CLIP	23592263
MIRT481595	hsa-miR-6830-5p	PAR-CLIP	23592263
MIRT405483	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT481594	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT405480	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT405481	hsa-miR-4518	PAR-CLIP	23592263
MIRT066803	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT066806	hsa-miR-4784	PAR-CLIP	23592263
MIRT405482	hsa-miR-4695-3p	PAR-CLIP	23592263
MIRT066794	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT066802	hsa-miR-4306	PAR-CLIP	23592263
MIRT066805	hsa-miR-4644	PAR-CLIP	23592263
MIRT066799	hsa-miR-765	PAR-CLIP	23592263
MIRT066798	hsa-miR-609	PAR-CLIP	23592263
MIRT481593	hsa-miR-3613-5p	PAR-CLIP	23592263
MIRT066796	hsa-miR-561-5p	PAR-CLIP	23592263
MIRT405484	hsa-miR-7641	PAR-CLIP	23592263
MIRT066795	hsa-miR-135b-3p	PAR-CLIP	23592263
MIRT441193	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT441191	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441193	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT441191	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT274774	hsa-miR-222-3p	Luciferase reporter assay	26909602
MIRT274774	hsa-miR-222-3p	Luciferase reporter assay	26909602
MIRT066782	hsa-let-7a-2-3p	PAR-CLIP	26701625
MIRT066782	hsa-let-7a-2-3p	PAR-CLIP	26701625
MIRT066783	hsa-let-7g-3p	PAR-CLIP	26701625
MIRT066783	hsa-let-7g-3p	PAR-CLIP	26701625
MIRT004027	hsa-miR-101-3p	PAR-CLIP	26701625
MIRT004027	hsa-miR-101-3p	PAR-CLIP	26701625
MIRT248727	hsa-miR-1182	PAR-CLIP	26701625
MIRT248727	hsa-miR-1182	PAR-CLIP	26701625
MIRT066784	hsa-miR-144-3p	PAR-CLIP	26701625
MIRT066784	hsa-miR-144-3p	PAR-CLIP	26701625
MIRT066789	hsa-miR-3177-5p	PAR-CLIP	26701625
MIRT066789	hsa-miR-3177-5p	PAR-CLIP	26701625
MIRT562638	hsa-miR-3618	PAR-CLIP	26701625
MIRT562638	hsa-miR-3618	PAR-CLIP	26701625
MIRT188343	hsa-miR-488-3p	PAR-CLIP	26701625
MIRT188343	hsa-miR-488-3p	PAR-CLIP	26701625
MIRT188344	hsa-miR-5681a	PAR-CLIP	26701625
MIRT188344	hsa-miR-5681a	PAR-CLIP	26701625
MIRT562639	hsa-miR-6730-5p	PAR-CLIP	26701625
MIRT562639	hsa-miR-6730-5p	PAR-CLIP	26701625
MIRT562652	hsa-miR-548ac	HITS-CLIP	27418678
MIRT562647	hsa-miR-548ae-3p	HITS-CLIP	27418678
MIRT562646	hsa-miR-548ah-3p	HITS-CLIP	27418678
MIRT562645	hsa-miR-548aj-3p	HITS-CLIP	27418678
MIRT562644	hsa-miR-548am-3p	HITS-CLIP	27418678
MIRT562643	hsa-miR-548aq-3p	HITS-CLIP	27418678
MIRT562651	hsa-miR-548bb-3p	HITS-CLIP	27418678
MIRT562650	hsa-miR-548d-3p	HITS-CLIP	27418678
MIRT562649	hsa-miR-548h-3p	HITS-CLIP	27418678
MIRT562642	hsa-miR-548j-3p	HITS-CLIP	27418678
MIRT562641	hsa-miR-548x-3p	HITS-CLIP	27418678
MIRT562648	hsa-miR-548z	HITS-CLIP	27418678
MIRT689026	hsa-miR-4750-3p	HITS-CLIP	23313552
MIRT689025	hsa-miR-1180-5p	HITS-CLIP	23313552
MIRT689024	hsa-miR-7114-3p	HITS-CLIP	23313552
MIRT689023	hsa-miR-628-5p	HITS-CLIP	23313552
MIRT689022	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT689021	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT562652	hsa-miR-548ac	HITS-CLIP	23824327
MIRT562651	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT562650	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT562649	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT562648	hsa-miR-548z	HITS-CLIP	23824327
MIRT562647	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT562646	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT562645	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT562644	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT562643	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT562642	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT562641	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT660534	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT660533	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT562656	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT562655	hsa-miR-5692a	PAR-CLIP	20371350
MIRT188337	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT188342	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT405485	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT188339	hsa-miR-6134	PAR-CLIP	20371350
MIRT562654	hsa-miR-196a-3p	PAR-CLIP	20371350
MIRT188335	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT188326	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT188327	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT188328	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT568486	hsa-miR-4303	PAR-CLIP	20371350
MIRT562653	hsa-miR-448	PAR-CLIP	20371350
MIRT188334	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT188332	hsa-miR-507	PAR-CLIP	20371350
MIRT188333	hsa-miR-557	PAR-CLIP	20371350
MIRT188336	hsa-miR-3680-3p	PAR-CLIP	20371350
MIRT562652	hsa-miR-548ac	PAR-CLIP	20371350
MIRT562651	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT562650	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT562649	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT562648	hsa-miR-548z	PAR-CLIP	20371350
MIRT562647	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT562646	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT562645	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT562644	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT562643	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT562642	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT562641	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT066772	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT562640	hsa-miR-4708-3p	PAR-CLIP	20371350
MIRT066773	hsa-miR-324-5p	PAR-CLIP	20371350
MIRT066777	hsa-miR-3688-5p	PAR-CLIP	20371350
MIRT066774	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT066779	hsa-miR-4642	PAR-CLIP	20371350
MIRT562656	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT562655	hsa-miR-5692a	PAR-CLIP	20371350
MIRT188337	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT188342	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT405485	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT188339	hsa-miR-6134	PAR-CLIP	20371350
MIRT562654	hsa-miR-196a-3p	PAR-CLIP	20371350
MIRT188335	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT188326	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT188327	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT188328	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT562653	hsa-miR-448	PAR-CLIP	20371350
MIRT188334	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT188332	hsa-miR-507	PAR-CLIP	20371350
MIRT188333	hsa-miR-557	PAR-CLIP	20371350
MIRT188336	hsa-miR-3680-3p	PAR-CLIP	20371350
MIRT562652	hsa-miR-548ac	PAR-CLIP	20371350
MIRT562651	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT562650	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT562649	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT562648	hsa-miR-548z	PAR-CLIP	20371350
MIRT562647	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT562646	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT562645	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT562644	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT562643	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT562642	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT562641	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT066772	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT562640	hsa-miR-4708-3p	PAR-CLIP	20371350
MIRT066773	hsa-miR-324-5p	PAR-CLIP	20371350
MIRT066777	hsa-miR-3688-5p	PAR-CLIP	20371350
MIRT066774	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT066779	hsa-miR-4642	PAR-CLIP	20371350
MIRT004027	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT004027	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT066784	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT248727	hsa-miR-1182	PAR-CLIP	20371350
MIRT188344	hsa-miR-5681a	PAR-CLIP	20371350
MIRT562639	hsa-miR-6730-5p	PAR-CLIP	20371350
MIRT562638	hsa-miR-3618	PAR-CLIP	20371350
MIRT066789	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT188343	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT066782	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT066783	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT066801	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT066808	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT494691	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT066803	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT066806	hsa-miR-4784	PAR-CLIP	23592263
MIRT494690	hsa-miR-4533	PAR-CLIP	23592263
MIRT494689	hsa-miR-3202	PAR-CLIP	23592263
MIRT066794	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT066802	hsa-miR-4306	PAR-CLIP	23592263
MIRT066805	hsa-miR-4644	PAR-CLIP	23592263
MIRT066799	hsa-miR-765	PAR-CLIP	23592263
MIRT494688	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT481596	hsa-miR-377-3p	PAR-CLIP	23592263
MIRT339122	hsa-miR-485-3p	PAR-CLIP	23592263
MIRT339123	hsa-miR-539-3p	PAR-CLIP	23592263
MIRT066797	hsa-miR-583	PAR-CLIP	23592263
MIRT066801	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT066808	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT188347	hsa-miR-4666a-3p	PAR-CLIP	23592263
MIRT339131	hsa-miR-664a-3p	PAR-CLIP	23592263
MIRT481595	hsa-miR-6830-5p	PAR-CLIP	23592263
MIRT405483	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT481594	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT405480	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT405481	hsa-miR-4518	PAR-CLIP	23592263
MIRT066803	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT066806	hsa-miR-4784	PAR-CLIP	23592263
MIRT405482	hsa-miR-4695-3p	PAR-CLIP	23592263
MIRT066794	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT066802	hsa-miR-4306	PAR-CLIP	23592263
MIRT066805	hsa-miR-4644	PAR-CLIP	23592263
MIRT066799	hsa-miR-765	PAR-CLIP	23592263
MIRT066798	hsa-miR-609	PAR-CLIP	23592263
MIRT481593	hsa-miR-3613-5p	PAR-CLIP	23592263
MIRT066796	hsa-miR-561-5p	PAR-CLIP	23592263
MIRT405484	hsa-miR-7641	PAR-CLIP	23592263
MIRT066795	hsa-miR-135b-3p	PAR-CLIP	23592263
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796201	hsa-miR-1184	CLIP-seq
MIRT796202	hsa-miR-1200	CLIP-seq
MIRT796203	hsa-miR-1228	CLIP-seq
MIRT796204	hsa-miR-1243	CLIP-seq
MIRT796205	hsa-miR-1257	CLIP-seq
MIRT796206	hsa-miR-125a-3p	CLIP-seq
MIRT796207	hsa-miR-1264	CLIP-seq
MIRT796208	hsa-miR-1266	CLIP-seq
MIRT796209	hsa-miR-1301	CLIP-seq
MIRT796210	hsa-miR-1305	CLIP-seq
MIRT796211	hsa-miR-132	CLIP-seq
MIRT796212	hsa-miR-142-5p	CLIP-seq
MIRT796213	hsa-miR-144	CLIP-seq
MIRT796214	hsa-miR-153	CLIP-seq
MIRT796215	hsa-miR-1825	CLIP-seq
MIRT796216	hsa-miR-185	CLIP-seq
MIRT796217	hsa-miR-18a	CLIP-seq
MIRT796218	hsa-miR-18b	CLIP-seq
MIRT796219	hsa-miR-1976	CLIP-seq
MIRT796220	hsa-miR-199a-5p	CLIP-seq
MIRT796221	hsa-miR-199b-5p	CLIP-seq
MIRT796222	hsa-miR-19a	CLIP-seq
MIRT796223	hsa-miR-19b	CLIP-seq
MIRT796224	hsa-miR-203	CLIP-seq
MIRT796225	hsa-miR-2053	CLIP-seq
MIRT796226	hsa-miR-212	CLIP-seq
MIRT796227	hsa-miR-214	CLIP-seq
MIRT796228	hsa-miR-216a	CLIP-seq
MIRT796229	hsa-miR-217	CLIP-seq
MIRT796230	hsa-miR-223	CLIP-seq
MIRT796231	hsa-miR-2276	CLIP-seq
MIRT796232	hsa-miR-2682	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796234	hsa-miR-3151	CLIP-seq
MIRT796235	hsa-miR-3153	CLIP-seq
MIRT796236	hsa-miR-3168	CLIP-seq
MIRT796237	hsa-miR-3169	CLIP-seq
MIRT796238	hsa-miR-3184	CLIP-seq
MIRT796239	hsa-miR-3192	CLIP-seq
MIRT796240	hsa-miR-320e	CLIP-seq
MIRT796241	hsa-miR-329	CLIP-seq
MIRT796242	hsa-miR-340	CLIP-seq
MIRT796243	hsa-miR-34c-3p	CLIP-seq
MIRT796244	hsa-miR-3607-5p	CLIP-seq
MIRT796245	hsa-miR-3611	CLIP-seq
MIRT796246	hsa-miR-3619-5p	CLIP-seq
MIRT796247	hsa-miR-362-3p	CLIP-seq
MIRT796248	hsa-miR-3668	CLIP-seq
MIRT796249	hsa-miR-3689a-3p	CLIP-seq
MIRT796250	hsa-miR-3689c	CLIP-seq
MIRT796251	hsa-miR-3689d	CLIP-seq
MIRT796252	hsa-miR-377	CLIP-seq
MIRT796253	hsa-miR-382	CLIP-seq
MIRT796254	hsa-miR-3925-3p	CLIP-seq
MIRT796255	hsa-miR-3934	CLIP-seq
MIRT796256	hsa-miR-3936	CLIP-seq
MIRT796257	hsa-miR-3941	CLIP-seq
MIRT796258	hsa-miR-423-5p	CLIP-seq
MIRT796259	hsa-miR-4263	CLIP-seq
MIRT796260	hsa-miR-4274	CLIP-seq
MIRT796261	hsa-miR-4277	CLIP-seq
MIRT796262	hsa-miR-4291	CLIP-seq
MIRT796263	hsa-miR-4307	CLIP-seq
MIRT796264	hsa-miR-4318	CLIP-seq
MIRT796265	hsa-miR-4320	CLIP-seq
MIRT796266	hsa-miR-4324	CLIP-seq
MIRT796267	hsa-miR-4328	CLIP-seq
MIRT796268	hsa-miR-4329	CLIP-seq
MIRT796269	hsa-miR-4418	CLIP-seq
MIRT796270	hsa-miR-4420	CLIP-seq
MIRT796271	hsa-miR-4434	CLIP-seq
MIRT796272	hsa-miR-4446-5p	CLIP-seq
MIRT796273	hsa-miR-4447	CLIP-seq
MIRT796274	hsa-miR-4450	CLIP-seq
MIRT796275	hsa-miR-4472	CLIP-seq
MIRT796276	hsa-miR-449c	CLIP-seq
MIRT796277	hsa-miR-4509	CLIP-seq
MIRT796278	hsa-miR-4515	CLIP-seq
MIRT796279	hsa-miR-4516	CLIP-seq
MIRT796280	hsa-miR-4520a-3p	CLIP-seq
MIRT796281	hsa-miR-455-5p	CLIP-seq
MIRT796282	hsa-miR-4638-3p	CLIP-seq
MIRT796283	hsa-miR-4643	CLIP-seq
MIRT796284	hsa-miR-4646-5p	CLIP-seq
MIRT796285	hsa-miR-4650-5p	CLIP-seq
MIRT796286	hsa-miR-4659a-3p	CLIP-seq
MIRT796287	hsa-miR-4659b-3p	CLIP-seq
MIRT796288	hsa-miR-4660	CLIP-seq
MIRT796289	hsa-miR-4663	CLIP-seq
MIRT796290	hsa-miR-4666-3p	CLIP-seq
MIRT796291	hsa-miR-4668-5p	CLIP-seq
MIRT796292	hsa-miR-4696	CLIP-seq
MIRT796293	hsa-miR-4704-3p	CLIP-seq
MIRT796294	hsa-miR-4709-5p	CLIP-seq
MIRT796295	hsa-miR-4713-3p	CLIP-seq
MIRT796296	hsa-miR-4716-5p	CLIP-seq
MIRT796297	hsa-miR-4723-5p	CLIP-seq
MIRT796298	hsa-miR-4728-5p	CLIP-seq
MIRT796299	hsa-miR-4735-3p	CLIP-seq
MIRT796300	hsa-miR-4751	CLIP-seq
MIRT796301	hsa-miR-4757-5p	CLIP-seq
MIRT796302	hsa-miR-4764-3p	CLIP-seq
MIRT796303	hsa-miR-4789-5p	CLIP-seq
MIRT796304	hsa-miR-4795-3p	CLIP-seq
MIRT796305	hsa-miR-488	CLIP-seq
MIRT796306	hsa-miR-491-5p	CLIP-seq
MIRT796307	hsa-miR-5047	CLIP-seq
MIRT796308	hsa-miR-509-3-5p	CLIP-seq
MIRT796309	hsa-miR-509-3p	CLIP-seq
MIRT796310	hsa-miR-509-5p	CLIP-seq
MIRT796311	hsa-miR-5096	CLIP-seq
MIRT796312	hsa-miR-511	CLIP-seq
MIRT796313	hsa-miR-513b	CLIP-seq
MIRT796314	hsa-miR-515-5p	CLIP-seq
MIRT796315	hsa-miR-544b	CLIP-seq
MIRT796316	hsa-miR-548aa	CLIP-seq
MIRT796317	hsa-miR-548c-3p	CLIP-seq
MIRT796318	hsa-miR-548g	CLIP-seq
MIRT796319	hsa-miR-548m	CLIP-seq
MIRT796320	hsa-miR-556-3p	CLIP-seq
MIRT796321	hsa-miR-567	CLIP-seq
MIRT796322	hsa-miR-570	CLIP-seq
MIRT796323	hsa-miR-576-5p	CLIP-seq
MIRT796324	hsa-miR-582-5p	CLIP-seq
MIRT796325	hsa-miR-587	CLIP-seq
MIRT796326	hsa-miR-598	CLIP-seq
MIRT796327	hsa-miR-602	CLIP-seq
MIRT796328	hsa-miR-603	CLIP-seq
MIRT796329	hsa-miR-604	CLIP-seq
MIRT796330	hsa-miR-607	CLIP-seq
MIRT796331	hsa-miR-647	CLIP-seq
MIRT796332	hsa-miR-653	CLIP-seq
MIRT796333	hsa-miR-664	CLIP-seq
MIRT796334	hsa-miR-761	CLIP-seq
MIRT796335	hsa-miR-764	CLIP-seq
MIRT796336	hsa-miR-766	CLIP-seq
MIRT796337	hsa-miR-885-3p	CLIP-seq
MIRT796338	hsa-miR-922	CLIP-seq
MIRT796339	hsa-miR-940	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796201	hsa-miR-1184	CLIP-seq
MIRT796202	hsa-miR-1200	CLIP-seq
MIRT796203	hsa-miR-1228	CLIP-seq
MIRT796204	hsa-miR-1243	CLIP-seq
MIRT796205	hsa-miR-1257	CLIP-seq
MIRT796209	hsa-miR-1301	CLIP-seq
MIRT796210	hsa-miR-1305	CLIP-seq
MIRT796211	hsa-miR-132	CLIP-seq
MIRT796212	hsa-miR-142-5p	CLIP-seq
MIRT796213	hsa-miR-144	CLIP-seq
MIRT796214	hsa-miR-153	CLIP-seq
MIRT796215	hsa-miR-1825	CLIP-seq
MIRT796219	hsa-miR-1976	CLIP-seq
MIRT796220	hsa-miR-199a-5p	CLIP-seq
MIRT796221	hsa-miR-199b-5p	CLIP-seq
MIRT796222	hsa-miR-19a	CLIP-seq
MIRT796223	hsa-miR-19b	CLIP-seq
MIRT796226	hsa-miR-212	CLIP-seq
MIRT796230	hsa-miR-223	CLIP-seq
MIRT796231	hsa-miR-2276	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796236	hsa-miR-3168	CLIP-seq
MIRT796240	hsa-miR-320e	CLIP-seq
MIRT796241	hsa-miR-329	CLIP-seq
MIRT796242	hsa-miR-340	CLIP-seq
MIRT796244	hsa-miR-3607-5p	CLIP-seq
MIRT796245	hsa-miR-3611	CLIP-seq
MIRT796247	hsa-miR-362-3p	CLIP-seq
MIRT796252	hsa-miR-377	CLIP-seq
MIRT796254	hsa-miR-3925-3p	CLIP-seq
MIRT796257	hsa-miR-3941	CLIP-seq
MIRT796259	hsa-miR-4263	CLIP-seq
MIRT796261	hsa-miR-4277	CLIP-seq
MIRT796263	hsa-miR-4307	CLIP-seq
MIRT796265	hsa-miR-4320	CLIP-seq
MIRT796266	hsa-miR-4324	CLIP-seq
MIRT796267	hsa-miR-4328	CLIP-seq
MIRT796271	hsa-miR-4434	CLIP-seq
MIRT796272	hsa-miR-4446-5p	CLIP-seq
MIRT796277	hsa-miR-4509	CLIP-seq
MIRT796279	hsa-miR-4516	CLIP-seq
MIRT796280	hsa-miR-4520a-3p	CLIP-seq
MIRT796281	hsa-miR-455-5p	CLIP-seq
MIRT796282	hsa-miR-4638-3p	CLIP-seq
MIRT796286	hsa-miR-4659a-3p	CLIP-seq
MIRT796287	hsa-miR-4659b-3p	CLIP-seq
MIRT796288	hsa-miR-4660	CLIP-seq
MIRT796292	hsa-miR-4696	CLIP-seq
MIRT796294	hsa-miR-4709-5p	CLIP-seq
MIRT1935120	hsa-miR-4724-5p	CLIP-seq
MIRT796303	hsa-miR-4789-5p	CLIP-seq
MIRT796304	hsa-miR-4795-3p	CLIP-seq
MIRT1935121	hsa-miR-4797-5p	CLIP-seq
MIRT1935122	hsa-miR-486-5p	CLIP-seq
MIRT796305	hsa-miR-488	CLIP-seq
MIRT796307	hsa-miR-5047	CLIP-seq
MIRT796311	hsa-miR-5096	CLIP-seq
MIRT796312	hsa-miR-511	CLIP-seq
MIRT796313	hsa-miR-513b	CLIP-seq
MIRT796314	hsa-miR-515-5p	CLIP-seq
MIRT796315	hsa-miR-544b	CLIP-seq
MIRT796316	hsa-miR-548aa	CLIP-seq
MIRT1935123	hsa-miR-548ae	CLIP-seq
MIRT1935124	hsa-miR-548aj	CLIP-seq
MIRT1935125	hsa-miR-548am	CLIP-seq
MIRT796318	hsa-miR-548g	CLIP-seq
MIRT796319	hsa-miR-548m	CLIP-seq
MIRT1935126	hsa-miR-548x	CLIP-seq
MIRT796320	hsa-miR-556-3p	CLIP-seq
MIRT796321	hsa-miR-567	CLIP-seq
MIRT796323	hsa-miR-576-5p	CLIP-seq
MIRT796324	hsa-miR-582-5p	CLIP-seq
MIRT796326	hsa-miR-598	CLIP-seq
MIRT796328	hsa-miR-603	CLIP-seq
MIRT796330	hsa-miR-607	CLIP-seq
MIRT796333	hsa-miR-664	CLIP-seq
MIRT796336	hsa-miR-766	CLIP-seq
MIRT1935127	hsa-miR-769-5p	CLIP-seq
MIRT796337	hsa-miR-885-3p	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796201	hsa-miR-1184	CLIP-seq
MIRT796204	hsa-miR-1243	CLIP-seq
MIRT796205	hsa-miR-1257	CLIP-seq
MIRT796206	hsa-miR-125a-3p	CLIP-seq
MIRT796207	hsa-miR-1264	CLIP-seq
MIRT796208	hsa-miR-1266	CLIP-seq
MIRT2175178	hsa-miR-129-5p	CLIP-seq
MIRT796209	hsa-miR-1301	CLIP-seq
MIRT796210	hsa-miR-1305	CLIP-seq
MIRT796211	hsa-miR-132	CLIP-seq
MIRT796212	hsa-miR-142-5p	CLIP-seq
MIRT796213	hsa-miR-144	CLIP-seq
MIRT796214	hsa-miR-153	CLIP-seq
MIRT796216	hsa-miR-185	CLIP-seq
MIRT796219	hsa-miR-1976	CLIP-seq
MIRT796222	hsa-miR-19a	CLIP-seq
MIRT796223	hsa-miR-19b	CLIP-seq
MIRT2175179	hsa-miR-205	CLIP-seq
MIRT796225	hsa-miR-2053	CLIP-seq
MIRT796226	hsa-miR-212	CLIP-seq
MIRT796227	hsa-miR-214	CLIP-seq
MIRT796230	hsa-miR-223	CLIP-seq
MIRT796231	hsa-miR-2276	CLIP-seq
MIRT2175180	hsa-miR-2355-3p	CLIP-seq
MIRT796232	hsa-miR-2682	CLIP-seq
MIRT2175181	hsa-miR-30a	CLIP-seq
MIRT2175182	hsa-miR-30b	CLIP-seq
MIRT2175183	hsa-miR-30c	CLIP-seq
MIRT2175184	hsa-miR-30d	CLIP-seq
MIRT2175185	hsa-miR-30e	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796234	hsa-miR-3151	CLIP-seq
MIRT796236	hsa-miR-3168	CLIP-seq
MIRT796238	hsa-miR-3184	CLIP-seq
MIRT796239	hsa-miR-3192	CLIP-seq
MIRT796240	hsa-miR-320e	CLIP-seq
MIRT796241	hsa-miR-329	CLIP-seq
MIRT796242	hsa-miR-340	CLIP-seq
MIRT796245	hsa-miR-3611	CLIP-seq
MIRT796246	hsa-miR-3619-5p	CLIP-seq
MIRT796247	hsa-miR-362-3p	CLIP-seq
MIRT796248	hsa-miR-3668	CLIP-seq
MIRT796249	hsa-miR-3689a-3p	CLIP-seq
MIRT796250	hsa-miR-3689c	CLIP-seq
MIRT796252	hsa-miR-377	CLIP-seq
MIRT796255	hsa-miR-3934	CLIP-seq
MIRT796256	hsa-miR-3936	CLIP-seq
MIRT796257	hsa-miR-3941	CLIP-seq
MIRT796258	hsa-miR-423-5p	CLIP-seq
MIRT796259	hsa-miR-4263	CLIP-seq
MIRT796260	hsa-miR-4274	CLIP-seq
MIRT796261	hsa-miR-4277	CLIP-seq
MIRT796262	hsa-miR-4291	CLIP-seq
MIRT796263	hsa-miR-4307	CLIP-seq
MIRT796264	hsa-miR-4318	CLIP-seq
MIRT796265	hsa-miR-4320	CLIP-seq
MIRT796267	hsa-miR-4328	CLIP-seq
MIRT796268	hsa-miR-4329	CLIP-seq
MIRT796271	hsa-miR-4434	CLIP-seq
MIRT796272	hsa-miR-4446-5p	CLIP-seq
MIRT796273	hsa-miR-4447	CLIP-seq
MIRT796274	hsa-miR-4450	CLIP-seq
MIRT796275	hsa-miR-4472	CLIP-seq
MIRT796276	hsa-miR-449c	CLIP-seq
MIRT796277	hsa-miR-4509	CLIP-seq
MIRT796279	hsa-miR-4516	CLIP-seq
MIRT796280	hsa-miR-4520a-3p	CLIP-seq
MIRT796281	hsa-miR-455-5p	CLIP-seq
MIRT796282	hsa-miR-4638-3p	CLIP-seq
MIRT2175186	hsa-miR-4646-3p	CLIP-seq
MIRT796288	hsa-miR-4660	CLIP-seq
MIRT796290	hsa-miR-4666-3p	CLIP-seq
MIRT796292	hsa-miR-4696	CLIP-seq
MIRT796293	hsa-miR-4704-3p	CLIP-seq
MIRT796294	hsa-miR-4709-5p	CLIP-seq
MIRT796295	hsa-miR-4713-3p	CLIP-seq
MIRT1935120	hsa-miR-4724-5p	CLIP-seq
MIRT796298	hsa-miR-4728-5p	CLIP-seq
MIRT2175187	hsa-miR-4729	CLIP-seq
MIRT796300	hsa-miR-4751	CLIP-seq
MIRT796302	hsa-miR-4764-3p	CLIP-seq
MIRT796303	hsa-miR-4789-5p	CLIP-seq
MIRT796304	hsa-miR-4795-3p	CLIP-seq
MIRT1935121	hsa-miR-4797-5p	CLIP-seq
MIRT796306	hsa-miR-491-5p	CLIP-seq
MIRT796307	hsa-miR-5047	CLIP-seq
MIRT796312	hsa-miR-511	CLIP-seq
MIRT796313	hsa-miR-513b	CLIP-seq
MIRT796314	hsa-miR-515-5p	CLIP-seq
MIRT796316	hsa-miR-548aa	CLIP-seq
MIRT1935123	hsa-miR-548ae	CLIP-seq
MIRT1935124	hsa-miR-548aj	CLIP-seq
MIRT1935125	hsa-miR-548am	CLIP-seq
MIRT796318	hsa-miR-548g	CLIP-seq
MIRT796319	hsa-miR-548m	CLIP-seq
MIRT1935126	hsa-miR-548x	CLIP-seq
MIRT796320	hsa-miR-556-3p	CLIP-seq
MIRT796321	hsa-miR-567	CLIP-seq
MIRT796323	hsa-miR-576-5p	CLIP-seq
MIRT796324	hsa-miR-582-5p	CLIP-seq
MIRT796326	hsa-miR-598	CLIP-seq
MIRT796327	hsa-miR-602	CLIP-seq
MIRT796328	hsa-miR-603	CLIP-seq
MIRT796330	hsa-miR-607	CLIP-seq
MIRT796333	hsa-miR-664	CLIP-seq
MIRT2175188	hsa-miR-676	CLIP-seq
MIRT796334	hsa-miR-761	CLIP-seq
MIRT796335	hsa-miR-764	CLIP-seq
MIRT796337	hsa-miR-885-3p	CLIP-seq
MIRT796338	hsa-miR-922	CLIP-seq
MIRT796339	hsa-miR-940	CLIP-seq
MIRT796204	hsa-miR-1243	CLIP-seq
MIRT796208	hsa-miR-1266	CLIP-seq
MIRT796214	hsa-miR-153	CLIP-seq
MIRT796216	hsa-miR-185	CLIP-seq
MIRT796222	hsa-miR-19a	CLIP-seq
MIRT796223	hsa-miR-19b	CLIP-seq
MIRT796234	hsa-miR-3151	CLIP-seq
MIRT796236	hsa-miR-3168	CLIP-seq
MIRT796241	hsa-miR-329	CLIP-seq
MIRT796247	hsa-miR-362-3p	CLIP-seq
MIRT796257	hsa-miR-3941	CLIP-seq
MIRT796259	hsa-miR-4263	CLIP-seq
MIRT796261	hsa-miR-4277	CLIP-seq
MIRT796264	hsa-miR-4318	CLIP-seq
MIRT796265	hsa-miR-4320	CLIP-seq
MIRT796273	hsa-miR-4447	CLIP-seq
MIRT796274	hsa-miR-4450	CLIP-seq
MIRT796275	hsa-miR-4472	CLIP-seq
MIRT796277	hsa-miR-4509	CLIP-seq
MIRT796281	hsa-miR-455-5p	CLIP-seq
MIRT796290	hsa-miR-4666-3p	CLIP-seq
MIRT796295	hsa-miR-4713-3p	CLIP-seq
MIRT796303	hsa-miR-4789-5p	CLIP-seq
MIRT796306	hsa-miR-491-5p	CLIP-seq
MIRT796316	hsa-miR-548aa	CLIP-seq
MIRT796318	hsa-miR-548g	CLIP-seq
MIRT796319	hsa-miR-548m	CLIP-seq
MIRT796326	hsa-miR-598	CLIP-seq
MIRT796328	hsa-miR-603	CLIP-seq
MIRT796333	hsa-miR-664	CLIP-seq
MIRT796337	hsa-miR-885-3p	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796206	hsa-miR-125a-3p	CLIP-seq
MIRT796213	hsa-miR-144	CLIP-seq
MIRT796215	hsa-miR-1825	CLIP-seq
MIRT796220	hsa-miR-199a-5p	CLIP-seq
MIRT796221	hsa-miR-199b-5p	CLIP-seq
MIRT796225	hsa-miR-2053	CLIP-seq
MIRT2478393	hsa-miR-2113	CLIP-seq
MIRT796229	hsa-miR-217	CLIP-seq
MIRT2478394	hsa-miR-31	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT2478395	hsa-miR-3121-3p	CLIP-seq
MIRT2478396	hsa-miR-3126-3p	CLIP-seq
MIRT2478397	hsa-miR-3128	CLIP-seq
MIRT796238	hsa-miR-3184	CLIP-seq
MIRT796244	hsa-miR-3607-5p	CLIP-seq
MIRT2478398	hsa-miR-3665	CLIP-seq
MIRT796254	hsa-miR-3925-3p	CLIP-seq
MIRT796255	hsa-miR-3934	CLIP-seq
MIRT2478399	hsa-miR-3944-5p	CLIP-seq
MIRT796258	hsa-miR-423-5p	CLIP-seq
MIRT796263	hsa-miR-4307	CLIP-seq
MIRT2478400	hsa-miR-4315	CLIP-seq
MIRT796269	hsa-miR-4418	CLIP-seq
MIRT796285	hsa-miR-4650-5p	CLIP-seq
MIRT2478401	hsa-miR-4711-3p	CLIP-seq
MIRT796296	hsa-miR-4716-5p	CLIP-seq
MIRT2478402	hsa-miR-4720-5p	CLIP-seq
MIRT796301	hsa-miR-4757-5p	CLIP-seq
MIRT796302	hsa-miR-4764-3p	CLIP-seq
MIRT2478403	hsa-miR-4790-5p	CLIP-seq
MIRT796304	hsa-miR-4795-3p	CLIP-seq
MIRT1935121	hsa-miR-4797-5p	CLIP-seq
MIRT2478404	hsa-miR-4799-3p	CLIP-seq
MIRT1935122	hsa-miR-486-5p	CLIP-seq
MIRT796305	hsa-miR-488	CLIP-seq
MIRT796308	hsa-miR-509-3-5p	CLIP-seq
MIRT796310	hsa-miR-509-5p	CLIP-seq
MIRT796320	hsa-miR-556-3p	CLIP-seq
MIRT796321	hsa-miR-567	CLIP-seq
MIRT796324	hsa-miR-582-5p	CLIP-seq
MIRT796325	hsa-miR-587	CLIP-seq
MIRT2478405	hsa-miR-657	CLIP-seq
MIRT2478406	hsa-miR-720	CLIP-seq
MIRT796335	hsa-miR-764	CLIP-seq
MIRT796336	hsa-miR-766	CLIP-seq
MIRT1935127	hsa-miR-769-5p	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT796200	hsa-miR-101	CLIP-seq
MIRT796206	hsa-miR-125a-3p	CLIP-seq
MIRT796213	hsa-miR-144	CLIP-seq
MIRT796215	hsa-miR-1825	CLIP-seq
MIRT796220	hsa-miR-199a-5p	CLIP-seq
MIRT796221	hsa-miR-199b-5p	CLIP-seq
MIRT2478393	hsa-miR-2113	CLIP-seq
MIRT796229	hsa-miR-217	CLIP-seq
MIRT2478394	hsa-miR-31	CLIP-seq
MIRT796233	hsa-miR-3120-3p	CLIP-seq
MIRT2478395	hsa-miR-3121-3p	CLIP-seq
MIRT2478396	hsa-miR-3126-3p	CLIP-seq
MIRT2478397	hsa-miR-3128	CLIP-seq
MIRT796238	hsa-miR-3184	CLIP-seq
MIRT796244	hsa-miR-3607-5p	CLIP-seq
MIRT796254	hsa-miR-3925-3p	CLIP-seq
MIRT796255	hsa-miR-3934	CLIP-seq
MIRT2478399	hsa-miR-3944-5p	CLIP-seq
MIRT796258	hsa-miR-423-5p	CLIP-seq
MIRT796263	hsa-miR-4307	CLIP-seq
MIRT2478400	hsa-miR-4315	CLIP-seq
MIRT796269	hsa-miR-4418	CLIP-seq
MIRT796285	hsa-miR-4650-5p	CLIP-seq
MIRT2478401	hsa-miR-4711-3p	CLIP-seq
MIRT796296	hsa-miR-4716-5p	CLIP-seq
MIRT2478402	hsa-miR-4720-5p	CLIP-seq
MIRT796301	hsa-miR-4757-5p	CLIP-seq
MIRT2478403	hsa-miR-4790-5p	CLIP-seq
MIRT796304	hsa-miR-4795-3p	CLIP-seq
MIRT1935121	hsa-miR-4797-5p	CLIP-seq
MIRT2478404	hsa-miR-4799-3p	CLIP-seq
MIRT1935122	hsa-miR-486-5p	CLIP-seq
MIRT796305	hsa-miR-488	CLIP-seq
MIRT796308	hsa-miR-509-3-5p	CLIP-seq
MIRT796310	hsa-miR-509-5p	CLIP-seq
MIRT796313	hsa-miR-513b	CLIP-seq
MIRT796320	hsa-miR-556-3p	CLIP-seq
MIRT796321	hsa-miR-567	CLIP-seq
MIRT796324	hsa-miR-582-5p	CLIP-seq
MIRT796325	hsa-miR-587	CLIP-seq
MIRT2478406	hsa-miR-720	CLIP-seq
MIRT796335	hsa-miR-764	CLIP-seq
MIRT796336	hsa-miR-766	CLIP-seq
MIRT1935127	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	17363140
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003677	Function	DNA binding	IDA	15640446, 23129809
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	10757798
GO:0003713	Function	Transcription coactivator activity	IDA	12200431
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005515	Function	Protein binding	IPI	11780067, 11988099, 12200431, 12368262, 15985610, 17363140, 19486893, 23540691, 23698369, 30021884, 31759698, 34591612, 35271311, 36931659
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	12200431
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673
GO:0007399	Process	Nervous system development	IEA
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 9584200, 11078522, 12200431
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016922	Function	Nuclear receptor binding	IPI	17363140
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0031491	Function	Nucleosome binding	IBA
GO:0035060	Component	Brahma complex	IEA
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	TAS	12200431
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12200431
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IBA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 603024
• HGNC: 11110
• e!Ensembl: ENSG00000117713

Protein

• UniProt ID: O14497
• Protein name: AT-rich interactive domain-containing protein 1A (ARID domain-containing protein 1A) (B120) (BRG1-associated factor 250) (BAF250) (BRG1-associated factor 250a) (BAF250A) (Osa homolog 1) (hOSA1) (SWI-like protein) (SWI/SNF complex protein p270) (SWI/SNF-re
• Protein function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati
• PDB: 1RYU, 6LTH, 6LTJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01388	ARID	1019 → 1104	ARID/BRIGHT DNA binding domain	Domain
  PF12031	BAF250_C	1976 → 2231	SWI/SNF-like complex subunit BAF250/Osa	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. {ECO:0000269|PubMed:11073988, ECO:00
• Sequence:

  MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEG
  PAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEP
  PGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPG
  LAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPAPAYALSSPRGGTPG
  SGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLT
  SPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHA
  PMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQ
  PYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQ
  QQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQST
  TQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPP
  QELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPG
  VSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVP
  GNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQ
  IHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQ
  MHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVA
  MHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAG
  MAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPER
  KMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNL
  NVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGS
  MQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQ
  KRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPY
  SRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYS
  PSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPP
  AKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATAT
  AATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQG
  RNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAP
  VPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPV
  PASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGL
  LAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPG
  QRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASEN
  SEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFE
  SKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSS
  TLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKR
  CVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQG
  VSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQ
  DPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKN
  PVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQN
  PPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLF
  LIGQS

• Sequence length: 2285

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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
ARID1A-related BAFopathy	Pathogenic; Likely pathogenic	rs2124740536, rs2124789902, rs2124081540, rs2124087389, rs1557591264, rs1557620758, rs1570609440	RCV001533055 RCV001533057 RCV001533076 RCV001533077 RCV001533056 RCV001533079 RCV001533078	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARID1A-related disorder	Likely pathogenic; Pathogenic	rs2124742621, rs2521981696, rs1026678745, rs2080284671, rs2522041276	RCV003401706 RCV003400429 RCV003412496 RCV003408736 RCV003899352	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Likely pathogenic; Pathogenic	rs1553153771, rs2081052495, rs2081053573	RCV000509492 RCV001251896 RCV001251895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome 1	Pathogenic; Likely pathogenic	rs797045262, rs387906846, rs1553152590	RCV003314556 RCV000856779 RCV001788274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs2081119463, rs2081171632	RCV001293813 RCV001293812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ependymoma	Likely pathogenic	rs1026678745	RCV006254380	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 14	Likely pathogenic; Pathogenic	rs2081174839, rs2124144295, rs2124114899, rs2124087634, rs2124740536, rs1030084592, rs2124742621, rs2124792461, rs2124056600, rs2124789497, rs2124086560, rs2124792810, rs2521983222, rs797045263, rs797045264, rs879255270, rs875989848, rs875989849, rs2124115285, rs1557612048, rs1232964733, rs2124097438, rs2522045814, rs2525554035, rs2124140469, rs2124146737, rs2525556760, rs2522034049, rs2124788629, rs2124120683, rs2525563601, rs797045262, rs387906845, rs387906846, rs1064796564, rs1553146165, rs1485978447, rs1553152590, rs1553153291, rs1557591264, rs1557620758, rs1557570794, rs1570609440, rs1570622663, rs1570607996, rs1570621899, rs1553153783, rs781090386, rs2081113293, rs2081169212, rs2081053546, rs2521936815	RCV001330186 RCV001449886 RCV001526605 RCV002246413 RCV005225419 RCV001730831 RCV001775275 RCV001784779 RCV001784787 RCV003883188 RCV002272890 RCV002279913 RCV002288421 RCV000193411 RCV000194434 RCV000211084 RCV000211061 RCV000211078 RCV002789982 RCV003148535 RCV003149120 RCV003224947 RCV003314442 RCV003322717 RCV004017982 RCV003333560 RCV003647244 RCV004372011 RCV004515766 RCV004555199 RCV004557234 RCV004595375 RCV000023227 RCV000023228 RCV000023229 RCV005230950 RCV000504260 RCV000503077 RCV001262248 RCV000677644 RCV000679916 RCV000679917 RCV000761607 RCV000785930 RCV000850527 RCV000986282 RCV001003475 RCV001007870 RCV001175158 RCV001249721 RCV001252992 RCV001265594 RCV001267674 RCV001270408	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs750618829, rs2124792233, rs2124067653, rs2124113674, rs2124118912, rs2124069687, rs2124140469, rs2124146162, rs2080654412, rs2124789091, rs2525873559, rs2124062961, rs2124063616, rs2124070263, rs2124115121, rs2124118080, rs2124119428, rs2124123417, rs2124126748, rs2124144078, rs1570607996	RCV003332939 RCV003332940 RCV003332941 RCV003332942 RCV003332943 RCV003332951 RCV003332957 RCV003332961 RCV003332962 RCV003332963 RCV003332964 RCV003332965 RCV003332966 RCV003332967 RCV003332969 RCV003332970 RCV003332971 RCV003332972 RCV003332973 RCV003332974 RCV005912362	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma SHH activated	Pathogenic	rs2124123417	RCV006254375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs2124056600, rs2124111295, rs879255270, rs875989848, rs1232964733	RCV005232659 RCV004673667 RCV004668851 RCV004668852 RCV006274409	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2081109271, rs2124087488	RCV002274203 RCV002274409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Pathogenic	rs2124740577	RCV001376026	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Septo-optic dysplasia sequence	Pathogenic	rs2124151159	RCV002293593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adenocarcinoma of the large intestine	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AKT1 Inhibitor response	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITT LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC BRONCHITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clonal Cytopenia of Undetermined Significance	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COFFIN-SIRIS SYNDROME 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary low grade serous adenocarcinoma of ovary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA, EMBRYONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER EXTREMITY FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30575821		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17492758		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22274316, 22484628, 25717252, 27941798, 28440661, 30381262, 31217031, 31655170		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	CTD_human_DG	23525077		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28440661, 31655170		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17492758		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	21412130, 22977660, 24114188, 24925223, 26572704, 27767100		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	25195947, 26572704		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	30620391		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	26717940		★☆☆☆☆ Found in Text Mining only
African Burkitt`s lymphoma	African Burkitt`s Lymphoma	CTD_human_DG	23143597		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28863077		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	25963524	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	31906887, 34042312, 37906351, 40281612	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30014851		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	35579625	Associate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	36969183	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	36031351	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22617224		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	23080032, 24557437, 26572704		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	30804124		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21590771		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	23318448		★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	31122820, 37139666	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	27495988		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	29360550, 33754015, 37139666, 37341068	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23650517, 30138427, 31386310		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1316549, 21889920, 21892209, 23675882, 24979463, 26904685, 27280691, 27925203, 28123592, 29980791, 31847141		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22009941, 23349767	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24430365, 26899600, 26904685, 27925203, 28112728, 30086764, 33000179, 33592583, 34063990, 34544752, 35101884, 35320351, 36332363, 36766731, 38017109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	38369186	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	CTD_human_DG	23143597		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	23091298, 23143597, 26468873, 31300419, 35794096, 37053555	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	CTD_human_DG	23143597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	31213911		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23080032, 23650517, 23702729, 25557364, 26904685, 27873496, 28440661, 29317648, 29949775, 31392992, 31704366, 32334542, 33451982, 34386776, 34994156, 35621684, 37906351	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	24670920, 29422640, 31300474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15382044, 20942669, 21412130, 21590771, 22032835, 22101352, 22157930, 22653341, 22915242, 23080032, 23524907, 23887303, 23962574, 24076778, 24114188, 24338723, 24557437, 24559118, 24925223, 25081752, 25686104, 26126041, 27364904, 27562491, 28543794, 28611940, 29133142, 29760405, 30138427		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	30051528, 31309433, 35125107, 35151345	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31648686, 33928395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	23349767, 26904685, 34810298	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	20942669, 22976498, 23080032, 23887303, 24076775, 24557437	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	21412130, 22193641, 22653341, 24559118, 24979463, 26953344, 27562491, 29451900, 34257552	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22561517, 26045782, 26589513, 28302680, 28648284, 29449409, 29487225, 30981109, 31173963, 31363003, 33407585, 33558447, 33771191, 33860125, 34174931, 34299031, 35028302, 36153509, 36411232, 36517508, 37499450, 37769223, 37939712, 38184822	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	31734230	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26249178	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36602798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30138427, 31386310		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27562491	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24293293, 28810144, 29486633, 30970447, 35231699, 36999792	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22101352, 23644518, 23792563, 25081752, 26043110, 26864202, 27340867, 27601542, 28718916, 29451900, 32868822, 32975815, 33000179, 33608032, 36857998	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22976498, 22977660, 23416164, 24557437	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	31186531, 35662501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25776029, 34725203, 35783357	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	20942669, 21412130, 21590771, 22653341, 23080032, 23765252, 23887303, 24262879, 24559118, 24979463, 26572704, 28466574, 29113150, 29451900, 30447298		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24382590, 26279473, 26572704, 28752851, 29135119, 29590609, 29660381, 29669287, 29736026, 30448218, 30657901, 31311810, 31676676		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	22653804, 25233892, 27009459, 29659191	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23427874, 24793973		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23427874		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	22274316, 23427874, 24793973		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	24185509		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24185509, 24563076, 24867389, 25526346, 25536104, 27433094, 28297679, 28648284, 29740198, 29848569, 30849962, 32293336, 32631434, 33535978, 33579226, 33765338, 34810298, 35070505, 35726602, 35986087, 36462464, 37139666, 37814942	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31665232		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	35726602	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	35151345	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	BEFREE	22120431, 26572704		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	CTD_human_DG	22426308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	23637025, 23929686, 30838730		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colitis Ulcerative	Ulcerative colitis	Pubtator	28524162	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27941798, 28440661		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26980037, 29955144	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31217031	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24382590, 24925223, 25311944, 27941798, 28937020, 30097580, 31217031, 31263894, 31796878		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	27941798		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22009941, 22810696, 24599305, 25561809, 26980037, 28440661, 30804124, 31040255, 31217031, 31796878, 32334542, 32568634, 33028695, 33080474, 33414133, 34042312, 35618879, 35962343, 36117191, 36420658, 36613564, 39301629, 40235227	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24833095	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	27941798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32166754	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	23702729, 29588532, 36918055	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	39355979	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	27280691, 31492885		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	24185513, 25536104, 25693006		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	26806701		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of aortic arch	Hypoplastic aortic arch	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of tricuspid valve	Hypoplastic tricuspid valve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22617224, 30450925		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23416164, 23644518, 27601542, 29073615, 31424966		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30980258		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	32393201	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34753942, 34942405	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23292937, 26473533, 27102345		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dubowitz syndrome	Dubowitz syndrome	Pubtator	33098347	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	23349767		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	34942405	Associate	★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	23702729, 30126589		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	CTD_human_DG	29376028		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36332363	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	24557437		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21590771, 22939958, 23028188, 23080032, 23702729, 23887303, 24023309, 24557437, 25081752, 25557364, 26572704, 26647729, 28863077, 29399196, 29451900, 29588532, 30126589, 30277666, 30358215, 31028182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	23104009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	23080032, 31237034		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	23080032, 24076775	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22653341, 22653804, 23028188, 23080032, 23104009, 23524907, 25557364, 27348297, 28448305, 28485815, 28863077, 30358215, 31308508, 31686413, 32473611, 33536036, 33676104, 34200508, 34386776, 35326450, 35796805, 36958196, 37305395, 37730563, 37906351, 38508586, 39776897, 40281612, 40311467	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	23104009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23702729, 23887303, 24557437	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	21590771		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	24018808, 29135119, 29451900		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	26832958, 30020448		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20942669, 22032835, 22101352, 22120431, 22157930, 22653341, 22910690, 23232571, 24036443, 25557364, 25692284, 26378916, 26403563, 26572704, 26832958, 27767100, 28483516, 29131266, 29135119, 29944973, 30447298, 30657901		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	20942669, 22157930, 22301703, 23962610, 25692284, 28483516, 29131266, 29135119, 32473611, 32868822, 35616875	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	22977660	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	37563306	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25757668, 26812616, 30350313, 31851786	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29866946	Inhibit	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31392992		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	24185509		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	29135119, 31906887	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	23318448, 23525077, 28440661, 30355311		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30584660, 30879920		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30584660		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	27690330		★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	33382535	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33813726	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	25717252, 27910777		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	24786892		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	30249557	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	35239432	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21590771		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31570771	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36031351	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	28942102		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	36344675	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	36789575	Inhibit	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37605180	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	39355979	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22617224, 30450925		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	22037554, 22484628, 24816253		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	23702729, 24925223		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	24979463	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	34942405	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	29588532, 32187665	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	36510654	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	34545858	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32697969	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25168959, 27264197, 27906199		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27906199	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	39355979	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Diseases	Intestinal disease	Pubtator	37890493	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24185509, 26717940, 27433094, 27622582, 29740198, 30849962, 31665232		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	24185509		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	26904685		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23416164	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12665591		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33560403, 34042280	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	27063598	Associate	★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	27562491	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22561517, 22634756, 22922871		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22922871, 24379610, 25975202, 26589513, 27838634, 28296015, 28716731, 29113912, 29136498, 31395065		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24599305		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22009941	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28448305	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24566899	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32572156, 33407425	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24430365, 25561809, 25717252, 29135119	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24566899	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22915242		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	39843653	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22585168, 24435047, 27102345, 34649275, 34791836, 36240289, 39843653	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21590771, 24435047, 27102345		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	37705050	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	23702729, 24925223		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	23202128		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	21590771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1316549, 21889920, 21892209, 23349767, 23675882, 26904685, 27280691, 28123592, 29980791, 31847141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23028188, 23080032, 23702729, 25557364, 26572704, 29399196, 29588532, 30358215, 31028182		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23416164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29136504		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	31213911		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20942669, 22193641, 24036443, 24382590, 24559118, 25311944, 26279473, 26378916, 26572704, 26832958, 28737768, 28752851, 29135119, 29170871, 29590609, 29660381, 29669287, 29736026, 31311810, 31676676, 31731647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29581767		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475, 29662167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22037554, 22484628, 22808142, 22915242, 22958152, 23887303, 24293408, 24744582, 25882375, 26067140, 26073375, 27354232, 28937020, 29317648, 30664822, 30747208, 31043675, 31704366, 31761322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	22037554, 22484628, 24816253		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30138427, 31386310		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15382044, 20942669, 21590771, 21889920, 23208470, 24562383, 24618703, 24979463, 25557364, 25686104, 25695927, 25757668, 25776029, 26125128, 26279473, 26384299, 26403563, 26572704, 26832958, 26904685, 27364904, 27486766, 27756662, 28716731, 28967863, 29073615, 29087303, 29113150, 29136504, 29170871, 29177569, 29730444, 29736026, 29980791, 30020448, 30025943, 30097580, 30292665, 30401838, 30686770, 30747208, 30753819, 30787326, 31028182, 31196855, 31217031, 31221444, 31237034, 31263894, 31831874, 31847141		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23427874, 24793973		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27941798, 28440661		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21892209, 27280691		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21590771		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	33327223	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27001432		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27001432		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22009941	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26744134	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	25963524		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	25963524, 33087175	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30980258		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37800816	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27906199		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27906199	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	22301703	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	36812689	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	21412130, 26904685, 28440661		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29389935	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30643823		★☆☆☆☆ Found in Text Mining only
Myelokathexis	Myelokathexis	BEFREE	24366360		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	37543677	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22915242, 31213911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	CTD_human_DG	24952746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11159203, 15382044, 17492758, 20826764, 20942669, 21412130, 21683865, 21889920, 21892209, 21900401, 22009941, 22101352, 22120431, 22157930, 22274316, 22653341, 22808142, 22915242, 22977660, 23028188, 23080032, 23097632, 23208470, 23318448, 23349767, 23416164, 23427874, 23524907, 23650517, 23702729, 24036443, 24185513, 24293293, 24293408, 24382590, 24557437, 24559118, 24562383, 24618703, 24925223, 24979463, 25311944, 25557364, 25744580, 25757668, 25776029, 25975202, 26067140, 26069190, 26126041, 26303865, 26384299, 26400522, 26589513, 26598986, 26637902, 26953344, 27137986, 27280691, 27364904, 27562491, 27634656, 27756662, 27767100, 27873496, 27910777, 27941798, 28123592, 28202515, 28253716, 28401006, 28433629, 28440661, 28466574, 28498284, 28860825, 28863077, 28937020, 29113912, 29135119, 29136504, 29170871, 29177569, 29189288, 29451900, 29468485, 29486633, 29581767, 29588532, 29590609, 29660381, 29689245, 29716739, 29730444, 29736026, 29890703, 29949775, 29980791, 30020448, 30025943, 30381262, 30664822, 30747208, 30753819, 30851247, 31043675, 31196855, 31213911, 31217031, 31263894, 31386310, 31391455, 31395065, 31655170, 31665232, 31761322, 31831874, 31847141		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	25293959		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25293959	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11159203, 28253716, 31365169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	11159203, 23202128	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	23202128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	11159203		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	30838730		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	31213911		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30584660		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23235350, 28648284, 29500370		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29500370, 37305395	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29177569		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29177569	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	20826764, 20942669, 21614196, 22101352, 22157930, 24336158, 26125128, 27654507, 27681437, 27873496, 28466574, 28483516, 28673661, 29135119, 29233531, 29890703, 29949775, 30025943, 30217369, 30787326, 30851247, 31604667		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	22976498	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	21412130, 22653341, 22977660, 24979463, 26953344, 32868822, 35616875	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23232571, 24382590, 25686104, 26279473, 26572704, 28752851, 29135119, 29590609, 29660381, 29669287, 29736026, 30297712, 31311810, 31676676		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20826764, 20942669, 21614196, 22009941, 22301703, 22977660, 23524907, 23962610, 24023729, 24336158, 24338723, 24559118, 25081752, 25551281, 25692284, 26945423, 26953344, 27340867, 27486766, 27654507, 27873496, 28483516, 28888422, 28967863, 29135119, 29451900, 29659191, 29669295, 29793804, 29890703, 29949775, 30109783, 30787326, 31340883, 31902686, 32139151, 32635925, 32649682, 32650224, 32868822, 33020491, 33292376, 34414664, 34697060, 35647895, 35816189, 36311816, 36721777, 36982928, 37272300, 37525498, 37567101, 39529086, 39608974	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22101352, 22157930, 22193641, 22976498, 24076775, 33541386, 33826602	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29581767		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29486633, 29604291, 30014851		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	24293293		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22233809, 24293293, 26154128, 31688591, 33350171, 33662100, 33941236, 34375311	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32868381	Associate	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	25776029	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	30804124, 32166754	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	30292665		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	22977660		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	22977660		★☆☆☆☆ Found in Text Mining only
Progesterone Resistance	Progesterone Resistance	BEFREE	31072420		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475, 29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33323379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30350313	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36420658	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23416164		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15382044		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31424966		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26278805, 33588785, 39513266	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32139107	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	35125107	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28084340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	29801054, 32461620, 35125107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	31392992	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	24585572		★☆☆☆☆ Found in Text Mining only
Schnyder crystalline corneal dystrophy	Schnyder crystalline corneal dystrophy	BEFREE	9630625		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	32281771	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	26415585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26415585, 26551670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31559568		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	23637025		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	27280691		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22274316, 25776029, 26303865, 31207229, 31831874		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25757668, 31851786		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36362284	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27528032		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30584660, 30879920		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21412130, 22037554, 22808142, 22915242, 22958152, 24293408, 24744582, 25882375, 26067140, 27354232, 28937020, 29317648, 29689245, 30664822, 30747208, 31043675, 31704366, 31761322		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	22808142, 29317648, 33451982	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	29317648		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21412130, 22009941, 26400522, 30249557	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	22037554, 22484628, 24816253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	22808142, 23887303, 25583476, 25717252, 25882375, 26334097, 28522256, 29317648, 30747208, 31043675, 31308508, 31704366, 31790410, 31912865, 31922331, 32034058, 32377988, 33328548, 33451982, 33481850, 33511732, 33933102, 34551773, 34924820, 36369379, 36789575, 36916408, 37325934, 37366273, 37395342, 37436885, 37967684, 38050871, 38324965, 39476606, 39796161, 40149431	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	26192917		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	21822268		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21889920, 29392887		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29392887, 35022313	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	25717252, 32060377, 32620917, 33676104, 34897700	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	26980037, 32572156	Inhibit	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	23887303, 23938375, 24925223, 25717252, 26067140, 30381262, 30479693, 31655170		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	28863077		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23650517, 28583311, 30138427, 31386310, 31393349, 31891283, 32012118, 33588785, 34793662, 37084735, 37718188, 39892702	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urologic Neoplasms	Urologic neoplasm	Pubtator	34200508	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	27137986, 31386310		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	29113150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	26303865		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28112728, 32951893, 34994156, 36344675, 36510654	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	34646088	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	36969183	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	24366360, 27301862, 32791817, 34462944	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	27301862		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	25190313, 28825729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations