ARID1B (AT-rich interaction domain 1B)

Gene

• Entrez ID: 57492
• Gene name: AT-rich interaction domain 1B
• Gene symbol: ARID1B
• Synonyms (NCBI Gene): 6A3-5, BAF250B, BRIGHT, CSS1, DAN15, ELD/OSA1, MRD12, OSA2, P250R, SMARCF2
• Chromosome: 6
• Chromosome location: 6q25.3
• Summary: This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35441529	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs201653711	G>T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs377021700	C>G,T	Uncertain-significance, pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs387907140	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs387907141	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs387907142	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs387907143	A>C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs387907144	C>A,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs587779745	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs587779746	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs748363079	T>A,C	Pathogenic	Intron variant, stop gained, coding sequence variant, synonymous variant
rs750447037	C>A,T	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs751192841	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs753933273	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant, genic upstream transcript variant
rs754167205	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs758120346	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs758570139	C>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs772973856	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs773740590	C>A,T	Pathogenic	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs779375711	G>A,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs786205584	G>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs794727977	C>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs797044859	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045272	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797045277	G>A	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs797045278	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs797045279	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045280	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045281	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045282	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs797045283	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs864309615	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869312697	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869312712	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs876657379	AGCATTGGAAA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876657380	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876657381	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876657382	AGACGCCACC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879253745	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879253746	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879253747	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs879253856	CCG>TCCGCAGCCACTCC	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886039594	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886039676	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886039679	G>A	Pathogenic	Splice donor variant
rs886039699	G>A	Pathogenic	Splice donor variant
rs886040958	CC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041463	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041470	GG>T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs886041493	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041623	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886041632	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041665	CACGGAAAGCA>GACTTG	Pathogenic	Stop gained, coding sequence variant, inframe indel, non coding transcript variant
rs886041706	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041804	AAAACCGCTCGGAATTCCTTTTG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041819	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886041878	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044620	G>A	Pathogenic	Intron variant, splice acceptor variant
rs1028186690	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs1057517704	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1057518045	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1057518059	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057518318	T>C	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant, missense variant
rs1057518387	->AGCTC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057518691	G>C	Pathogenic	Splice donor variant
rs1057518918	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057518951	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057518984	G>A	Likely-pathogenic	Splice donor variant
rs1057519002	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519009	->AA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057521854	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1060499668	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1064793482	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793899	GGTCACGATGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064794799	G>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1085307518	GC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1085307695	GAAA>-	Pathogenic	Upstream transcript variant, frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1131691508	TCGGC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131692263	CAAAG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1289067120	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1308155037	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs1404726383	T>C,G	Pathogenic	Splice donor variant
rs1451259945	G>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1554226097	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1554226131	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1554228806	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554229912	->GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554231259	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554231260	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554231803	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554231814	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554231830	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554231836	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554231845	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554231904	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554232919	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554232959	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554233122	TAC>AG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554233151	T>CATGAGCCCA	Likely-pathogenic	Inframe indel, coding sequence variant, non coding transcript variant
rs1554233166	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554233187	G>A	Pathogenic	Splice donor variant
rs1554234341	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554234424	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554235028	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554235041	G>C	Pathogenic	Splice donor variant, intron variant
rs1554235699	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554235792	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554235834	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554235934	TG>AGT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554235950	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554236040	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554236045	TACCTCCAAAGAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554236054	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554236600	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554237050	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554237269	TGTT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554237473	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554237606	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554237658	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554237785	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554237845	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554237848	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554237992	->CCCTCTGTAAACTCAGTATCCAGGACAA	Pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant, stop gained
rs1554238072	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs1554238093	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554256703	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554265271	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554265275	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554265316	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554265319	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554270809	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554294593	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554294665	->CC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554294674	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554294698	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554298232	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554301230	->G	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1562328476	TCTGG>CAGA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562328526	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562331655	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562345819	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562347066	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562350940	A>C	Likely-pathogenic	Splice acceptor variant
rs1562352435	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562354784	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562355401	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1582908829	A>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1583279842	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1583280025	TGCGTCCCCTCATCTCTCCA>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1583280152	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1583368813	->C	Pathogenic	Intron variant, frameshift variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1583438967	CGGCAGGTAACCT>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1583451146	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583451360	G>A	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1583464090	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583469151	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583469292	C>G	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1583479670	GC>A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583479817	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583480465	ATCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583491381	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583491515	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1583500173	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583502875	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583513256	AAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583513716	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583515345	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1583515557	CCGAG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583516082	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1583516200	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583518354	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049438	hsa-miR-92a-3p	CLASH	23622248
MIRT043253	hsa-miR-324-5p	CLASH	23622248
MIRT040618	hsa-miR-92b-3p	CLASH	23622248
MIRT040618	hsa-miR-92b-3p	CLASH	23622248
MIRT504372	hsa-miR-543	PAR-CLIP	21572407
MIRT504371	hsa-miR-602	PAR-CLIP	21572407
MIRT504370	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT504369	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT316474	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT316475	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT316476	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT316477	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT504367	hsa-miR-3143	PAR-CLIP	21572407
MIRT504368	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT504366	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT504365	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT504364	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT504363	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT504362	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT504361	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT504360	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT504358	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT504372	hsa-miR-543	PAR-CLIP	22012620
MIRT504370	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT316474	hsa-miR-25-3p	PAR-CLIP	22012620
MIRT316475	hsa-miR-32-5p	PAR-CLIP	22012620
MIRT316476	hsa-miR-363-3p	PAR-CLIP	22012620
MIRT316477	hsa-miR-367-3p	PAR-CLIP	22012620
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	22012620
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	22012620
MIRT504367	hsa-miR-3143	PAR-CLIP	22012620
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	22012620
MIRT504358	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT504372	hsa-miR-543	PAR-CLIP	23446348
MIRT504370	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT316474	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT316475	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT316476	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT316477	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT504367	hsa-miR-3143	PAR-CLIP	23446348
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	23446348
MIRT504358	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT504372	hsa-miR-543	PAR-CLIP	23446348
MIRT504371	hsa-miR-602	PAR-CLIP	23446348
MIRT504370	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT504369	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT316474	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT316475	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT316476	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT316477	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT504367	hsa-miR-3143	PAR-CLIP	23446348
MIRT504368	hsa-let-7a-3p	PAR-CLIP	23446348
MIRT504366	hsa-let-7b-3p	PAR-CLIP	23446348
MIRT504365	hsa-let-7f-1-3p	PAR-CLIP	23446348
MIRT504364	hsa-miR-98-3p	PAR-CLIP	23446348
MIRT504363	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT504362	hsa-let-7f-2-3p	PAR-CLIP	23446348
MIRT504361	hsa-miR-1185-1-3p	PAR-CLIP	23446348
MIRT504360	hsa-miR-1185-2-3p	PAR-CLIP	23446348
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	23446348
MIRT504358	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT446459	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446458	hsa-miR-138-2-3p	PAR-CLIP	22100165
MIRT446457	hsa-miR-643	PAR-CLIP	22100165
MIRT446456	hsa-miR-578	PAR-CLIP	22100165
MIRT446459	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446458	hsa-miR-138-2-3p	PAR-CLIP	22100165
MIRT446457	hsa-miR-643	PAR-CLIP	22100165
MIRT446456	hsa-miR-578	PAR-CLIP	22100165
MIRT504372	hsa-miR-543	PAR-CLIP	21572407
MIRT504371	hsa-miR-602	PAR-CLIP	21572407
MIRT504370	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT504369	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT316474	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT316475	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT316476	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT316477	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT504367	hsa-miR-3143	PAR-CLIP	21572407
MIRT504368	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT504366	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT504365	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT504364	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT504363	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT504362	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT504361	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT504360	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT504358	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT504372	hsa-miR-543	PAR-CLIP	22012620
MIRT504370	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT316474	hsa-miR-25-3p	PAR-CLIP	22012620
MIRT316475	hsa-miR-32-5p	PAR-CLIP	22012620
MIRT316476	hsa-miR-363-3p	PAR-CLIP	22012620
MIRT316477	hsa-miR-367-3p	PAR-CLIP	22012620
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	22012620
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	22012620
MIRT504367	hsa-miR-3143	PAR-CLIP	22012620
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	22012620
MIRT504358	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT504372	hsa-miR-543	PAR-CLIP	23446348
MIRT504370	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT316474	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT316475	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT316476	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT316477	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT504367	hsa-miR-3143	PAR-CLIP	23446348
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	23446348
MIRT504358	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT504372	hsa-miR-543	PAR-CLIP	23446348
MIRT504371	hsa-miR-602	PAR-CLIP	23446348
MIRT504370	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT504369	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT316474	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT316475	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT316476	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT316477	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT049438	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT040618	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT504367	hsa-miR-3143	PAR-CLIP	23446348
MIRT504368	hsa-let-7a-3p	PAR-CLIP	23446348
MIRT504366	hsa-let-7b-3p	PAR-CLIP	23446348
MIRT504365	hsa-let-7f-1-3p	PAR-CLIP	23446348
MIRT504364	hsa-miR-98-3p	PAR-CLIP	23446348
MIRT504363	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT504362	hsa-let-7f-2-3p	PAR-CLIP	23446348
MIRT504361	hsa-miR-1185-1-3p	PAR-CLIP	23446348
MIRT504360	hsa-miR-1185-2-3p	PAR-CLIP	23446348
MIRT504359	hsa-miR-302c-5p	PAR-CLIP	23446348
MIRT504358	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT446459	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446458	hsa-miR-138-2-3p	PAR-CLIP	22100165
MIRT446457	hsa-miR-643	PAR-CLIP	22100165
MIRT446456	hsa-miR-578	PAR-CLIP	22100165
MIRT446459	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446458	hsa-miR-138-2-3p	PAR-CLIP	22100165
MIRT446457	hsa-miR-643	PAR-CLIP	22100165
MIRT446456	hsa-miR-578	PAR-CLIP	22100165
MIRT796340	hsa-miR-1207-3p	CLIP-seq
MIRT796341	hsa-miR-1225-3p	CLIP-seq
MIRT796342	hsa-miR-1233	CLIP-seq
MIRT796343	hsa-miR-1257	CLIP-seq
MIRT796344	hsa-miR-1262	CLIP-seq
MIRT796345	hsa-miR-1976	CLIP-seq
MIRT796346	hsa-miR-2052	CLIP-seq
MIRT796347	hsa-miR-2467-3p	CLIP-seq
MIRT796348	hsa-miR-25	CLIP-seq
MIRT796349	hsa-miR-3140-5p	CLIP-seq
MIRT796350	hsa-miR-3144-3p	CLIP-seq
MIRT796351	hsa-miR-32	CLIP-seq
MIRT796352	hsa-miR-3606	CLIP-seq
MIRT796353	hsa-miR-363	CLIP-seq
MIRT796354	hsa-miR-367	CLIP-seq
MIRT796355	hsa-miR-3675-5p	CLIP-seq
MIRT796356	hsa-miR-383	CLIP-seq
MIRT796357	hsa-miR-433	CLIP-seq
MIRT796358	hsa-miR-4701-3p	CLIP-seq
MIRT796359	hsa-miR-4772-5p	CLIP-seq
MIRT796360	hsa-miR-4790-3p	CLIP-seq
MIRT796361	hsa-miR-486-3p	CLIP-seq
MIRT796362	hsa-miR-513a-3p	CLIP-seq
MIRT796363	hsa-miR-875-5p	CLIP-seq
MIRT796364	hsa-miR-92a	CLIP-seq
MIRT796365	hsa-miR-92b	CLIP-seq
MIRT796341	hsa-miR-1225-3p	CLIP-seq
MIRT796342	hsa-miR-1233	CLIP-seq
MIRT796366	hsa-miR-129-5p	CLIP-seq
MIRT796346	hsa-miR-2052	CLIP-seq
MIRT796367	hsa-miR-3120-3p	CLIP-seq
MIRT796368	hsa-miR-3125	CLIP-seq
MIRT796369	hsa-miR-3136-5p	CLIP-seq
MIRT796350	hsa-miR-3144-3p	CLIP-seq
MIRT796370	hsa-miR-3173-3p	CLIP-seq
MIRT796371	hsa-miR-3182	CLIP-seq
MIRT796372	hsa-miR-376a	CLIP-seq
MIRT796373	hsa-miR-376b	CLIP-seq
MIRT796374	hsa-miR-3916	CLIP-seq
MIRT796375	hsa-miR-3920	CLIP-seq
MIRT796376	hsa-miR-4305	CLIP-seq
MIRT796377	hsa-miR-4426	CLIP-seq
MIRT796378	hsa-miR-4439	CLIP-seq
MIRT796379	hsa-miR-4490	CLIP-seq
MIRT796380	hsa-miR-4534	CLIP-seq
MIRT796381	hsa-miR-4647	CLIP-seq
MIRT796382	hsa-miR-4653-3p	CLIP-seq
MIRT796383	hsa-miR-4662b	CLIP-seq
MIRT796384	hsa-miR-4762-3p	CLIP-seq
MIRT796385	hsa-miR-499-3p	CLIP-seq
MIRT796386	hsa-miR-499a-3p	CLIP-seq
MIRT796387	hsa-miR-539	CLIP-seq
MIRT796388	hsa-miR-548g	CLIP-seq
MIRT796389	hsa-miR-580	CLIP-seq
MIRT796390	hsa-miR-659	CLIP-seq
MIRT796363	hsa-miR-875-5p	CLIP-seq
MIRT796391	hsa-miR-891b	CLIP-seq
MIRT796392	hsa-miR-9	CLIP-seq
MIRT796393	hsa-miR-943	CLIP-seq
MIRT1935128	hsa-miR-214	CLIP-seq
MIRT796348	hsa-miR-25	CLIP-seq
MIRT1935129	hsa-miR-3190	CLIP-seq
MIRT796351	hsa-miR-32	CLIP-seq
MIRT1935130	hsa-miR-3202	CLIP-seq
MIRT1935131	hsa-miR-3616-5p	CLIP-seq
MIRT1935132	hsa-miR-3619-5p	CLIP-seq
MIRT796353	hsa-miR-363	CLIP-seq
MIRT1935133	hsa-miR-3647-5p	CLIP-seq
MIRT796354	hsa-miR-367	CLIP-seq
MIRT1935134	hsa-miR-382	CLIP-seq
MIRT1935135	hsa-miR-3974	CLIP-seq
MIRT1935136	hsa-miR-4495	CLIP-seq
MIRT1935137	hsa-miR-4533	CLIP-seq
MIRT1935138	hsa-miR-4670-3p	CLIP-seq
MIRT1935139	hsa-miR-4690-5p	CLIP-seq
MIRT1935140	hsa-miR-493	CLIP-seq
MIRT796362	hsa-miR-513a-3p	CLIP-seq
MIRT1935141	hsa-miR-573	CLIP-seq
MIRT1935142	hsa-miR-761	CLIP-seq
MIRT796364	hsa-miR-92a	CLIP-seq
MIRT796365	hsa-miR-92b	CLIP-seq
MIRT796348	hsa-miR-25	CLIP-seq
MIRT796351	hsa-miR-32	CLIP-seq
MIRT796353	hsa-miR-363	CLIP-seq
MIRT796354	hsa-miR-367	CLIP-seq
MIRT796364	hsa-miR-92a	CLIP-seq
MIRT796365	hsa-miR-92b	CLIP-seq
MIRT796370	hsa-miR-3173-3p	CLIP-seq
MIRT2175189	hsa-miR-3184	CLIP-seq
MIRT1935129	hsa-miR-3190	CLIP-seq
MIRT2175190	hsa-miR-423-5p	CLIP-seq
MIRT2175191	hsa-miR-4320	CLIP-seq
MIRT2175192	hsa-miR-4450	CLIP-seq
MIRT2175193	hsa-miR-4492	CLIP-seq
MIRT2175194	hsa-miR-4498	CLIP-seq
MIRT2175195	hsa-miR-4505	CLIP-seq
MIRT2175196	hsa-miR-4667-5p	CLIP-seq
MIRT2175197	hsa-miR-4700-5p	CLIP-seq
MIRT2175198	hsa-miR-4731-5p	CLIP-seq
MIRT2175199	hsa-miR-4737	CLIP-seq
MIRT2175200	hsa-miR-762	CLIP-seq
MIRT2384445	hsa-miR-144	CLIP-seq
MIRT796348	hsa-miR-25	CLIP-seq
MIRT796351	hsa-miR-32	CLIP-seq
MIRT796353	hsa-miR-363	CLIP-seq
MIRT796354	hsa-miR-367	CLIP-seq
MIRT796364	hsa-miR-92a	CLIP-seq
MIRT796365	hsa-miR-92b	CLIP-seq
MIRT2478407	hsa-let-7a	CLIP-seq
MIRT2478408	hsa-let-7b	CLIP-seq
MIRT2478409	hsa-let-7c	CLIP-seq
MIRT2478410	hsa-let-7d	CLIP-seq
MIRT2478411	hsa-let-7e	CLIP-seq
MIRT2478412	hsa-let-7f	CLIP-seq
MIRT2478413	hsa-let-7g	CLIP-seq
MIRT2478414	hsa-let-7i	CLIP-seq
MIRT2478415	hsa-miR-103a	CLIP-seq
MIRT2478416	hsa-miR-107	CLIP-seq
MIRT2478417	hsa-miR-1180	CLIP-seq
MIRT796341	hsa-miR-1225-3p	CLIP-seq
MIRT796342	hsa-miR-1233	CLIP-seq
MIRT2478418	hsa-miR-1236	CLIP-seq
MIRT2478419	hsa-miR-1243	CLIP-seq
MIRT2478420	hsa-miR-1245b-3p	CLIP-seq
MIRT2478421	hsa-miR-1253	CLIP-seq
MIRT796344	hsa-miR-1262	CLIP-seq
MIRT2478422	hsa-miR-1270	CLIP-seq
MIRT2478423	hsa-miR-1291	CLIP-seq
MIRT796366	hsa-miR-129-5p	CLIP-seq
MIRT2478424	hsa-miR-1298	CLIP-seq
MIRT2478425	hsa-miR-190	CLIP-seq
MIRT2478426	hsa-miR-190b	CLIP-seq
MIRT2478427	hsa-miR-193a-5p	CLIP-seq
MIRT2478428	hsa-miR-200b	CLIP-seq
MIRT2478429	hsa-miR-200c	CLIP-seq
MIRT2478430	hsa-miR-2115	CLIP-seq
MIRT2478431	hsa-miR-2116	CLIP-seq
MIRT1935128	hsa-miR-214	CLIP-seq
MIRT2478432	hsa-miR-217	CLIP-seq
MIRT796348	hsa-miR-25	CLIP-seq
MIRT2478433	hsa-miR-298	CLIP-seq
MIRT2478434	hsa-miR-302f	CLIP-seq
MIRT2478435	hsa-miR-3064-3p	CLIP-seq
MIRT2478436	hsa-miR-3133	CLIP-seq
MIRT796369	hsa-miR-3136-5p	CLIP-seq
MIRT2478437	hsa-miR-3137	CLIP-seq
MIRT796350	hsa-miR-3144-3p	CLIP-seq
MIRT2478438	hsa-miR-3149	CLIP-seq
MIRT2478439	hsa-miR-3150b-3p	CLIP-seq
MIRT2478440	hsa-miR-3153	CLIP-seq
MIRT2478441	hsa-miR-3156-5p	CLIP-seq
MIRT2478442	hsa-miR-3163	CLIP-seq
MIRT2478443	hsa-miR-3171	CLIP-seq
MIRT2175189	hsa-miR-3184	CLIP-seq
MIRT1935129	hsa-miR-3190	CLIP-seq
MIRT796351	hsa-miR-32	CLIP-seq
MIRT2478444	hsa-miR-3201	CLIP-seq
MIRT1935130	hsa-miR-3202	CLIP-seq
MIRT2478445	hsa-miR-323-3p	CLIP-seq
MIRT2478446	hsa-miR-328	CLIP-seq
MIRT2478447	hsa-miR-340	CLIP-seq
MIRT2478448	hsa-miR-3607-3p	CLIP-seq
MIRT2478449	hsa-miR-3611	CLIP-seq
MIRT2478450	hsa-miR-361-3p	CLIP-seq
MIRT1935131	hsa-miR-3616-5p	CLIP-seq
MIRT1935132	hsa-miR-3619-5p	CLIP-seq
MIRT796353	hsa-miR-363	CLIP-seq
MIRT2478451	hsa-miR-3647-3p	CLIP-seq
MIRT1935133	hsa-miR-3647-5p	CLIP-seq
MIRT2478452	hsa-miR-3654	CLIP-seq
MIRT2478453	hsa-miR-3655	CLIP-seq
MIRT2478454	hsa-miR-3662	CLIP-seq
MIRT2478455	hsa-miR-3664-5p	CLIP-seq
MIRT796354	hsa-miR-367	CLIP-seq
MIRT2478456	hsa-miR-3673	CLIP-seq
MIRT2478457	hsa-miR-3678-3p	CLIP-seq
MIRT2478458	hsa-miR-3679-3p	CLIP-seq
MIRT2478459	hsa-miR-3686	CLIP-seq
MIRT2478460	hsa-miR-3689a-3p	CLIP-seq
MIRT2478461	hsa-miR-3689c	CLIP-seq
MIRT2478462	hsa-miR-3692	CLIP-seq
MIRT1935134	hsa-miR-382	CLIP-seq
MIRT2478463	hsa-miR-3921	CLIP-seq
MIRT2478464	hsa-miR-3924	CLIP-seq
MIRT2478465	hsa-miR-3927	CLIP-seq
MIRT2478466	hsa-miR-3938	CLIP-seq
MIRT1935135	hsa-miR-3974	CLIP-seq
MIRT2478467	hsa-miR-3977	CLIP-seq
MIRT2478468	hsa-miR-410	CLIP-seq
MIRT2478469	hsa-miR-421	CLIP-seq
MIRT2175190	hsa-miR-423-5p	CLIP-seq
MIRT2478470	hsa-miR-4263	CLIP-seq
MIRT2478471	hsa-miR-4272	CLIP-seq
MIRT2478472	hsa-miR-429	CLIP-seq
MIRT2478473	hsa-miR-4302	CLIP-seq
MIRT2478474	hsa-miR-4303	CLIP-seq
MIRT2478475	hsa-miR-4318	CLIP-seq
MIRT2175191	hsa-miR-4320	CLIP-seq
MIRT2478476	hsa-miR-4328	CLIP-seq
MIRT2478477	hsa-miR-4422	CLIP-seq
MIRT2478478	hsa-miR-4424	CLIP-seq
MIRT796378	hsa-miR-4439	CLIP-seq
MIRT2175192	hsa-miR-4450	CLIP-seq
MIRT2478479	hsa-miR-4451	CLIP-seq
MIRT2478480	hsa-miR-4452	CLIP-seq
MIRT2478481	hsa-miR-4458	CLIP-seq
MIRT796379	hsa-miR-4490	CLIP-seq
MIRT2175193	hsa-miR-4492	CLIP-seq
MIRT2175194	hsa-miR-4498	CLIP-seq
MIRT2478482	hsa-miR-4500	CLIP-seq
MIRT2175195	hsa-miR-4505	CLIP-seq
MIRT2478483	hsa-miR-4506	CLIP-seq
MIRT2478484	hsa-miR-451b	CLIP-seq
MIRT2478485	hsa-miR-452	CLIP-seq
MIRT2478486	hsa-miR-4531	CLIP-seq
MIRT1935137	hsa-miR-4533	CLIP-seq
MIRT2478487	hsa-miR-4649-3p	CLIP-seq
MIRT2478488	hsa-miR-4653-5p	CLIP-seq
MIRT2478489	hsa-miR-4659a-3p	CLIP-seq
MIRT2478490	hsa-miR-4659b-3p	CLIP-seq
MIRT2478491	hsa-miR-4664-3p	CLIP-seq
MIRT2175196	hsa-miR-4667-5p	CLIP-seq
MIRT2478492	hsa-miR-4668-5p	CLIP-seq
MIRT1935138	hsa-miR-4670-3p	CLIP-seq
MIRT2478493	hsa-miR-4676-3p	CLIP-seq
MIRT2478494	hsa-miR-4677-3p	CLIP-seq
MIRT2478495	hsa-miR-4677-5p	CLIP-seq
MIRT2478496	hsa-miR-4679	CLIP-seq
MIRT2478497	hsa-miR-4682	CLIP-seq
MIRT2478498	hsa-miR-4683	CLIP-seq
MIRT2478499	hsa-miR-4689	CLIP-seq
MIRT1935139	hsa-miR-4690-5p	CLIP-seq
MIRT2478500	hsa-miR-4693-5p	CLIP-seq
MIRT2478501	hsa-miR-4694-3p	CLIP-seq
MIRT2175197	hsa-miR-4700-5p	CLIP-seq
MIRT796358	hsa-miR-4701-3p	CLIP-seq
MIRT2478502	hsa-miR-4710	CLIP-seq
MIRT2478503	hsa-miR-4712-3p	CLIP-seq
MIRT2478504	hsa-miR-4714-5p	CLIP-seq
MIRT2175198	hsa-miR-4731-5p	CLIP-seq
MIRT2175199	hsa-miR-4737	CLIP-seq
MIRT2478505	hsa-miR-4753-3p	CLIP-seq
MIRT2478506	hsa-miR-4760-3p	CLIP-seq
MIRT2478507	hsa-miR-4766-3p	CLIP-seq
MIRT2478508	hsa-miR-4768-5p	CLIP-seq
MIRT2478509	hsa-miR-4777-3p	CLIP-seq
MIRT2478510	hsa-miR-4784	CLIP-seq
MIRT2478511	hsa-miR-4791	CLIP-seq
MIRT2478512	hsa-miR-4792	CLIP-seq
MIRT2478513	hsa-miR-4799-5p	CLIP-seq
MIRT2478514	hsa-miR-487a	CLIP-seq
MIRT2478515	hsa-miR-491-3p	CLIP-seq
MIRT1935140	hsa-miR-493	CLIP-seq
MIRT2478516	hsa-miR-496	CLIP-seq
MIRT2478517	hsa-miR-509-3p	CLIP-seq
MIRT796362	hsa-miR-513a-3p	CLIP-seq
MIRT2478518	hsa-miR-513c	CLIP-seq
MIRT2478519	hsa-miR-514b-5p	CLIP-seq
MIRT2478520	hsa-miR-516a-3p	CLIP-seq
MIRT2478521	hsa-miR-520d-5p	CLIP-seq
MIRT2478522	hsa-miR-522	CLIP-seq
MIRT2478523	hsa-miR-524-5p	CLIP-seq
MIRT796387	hsa-miR-539	CLIP-seq
MIRT2478524	hsa-miR-548ad	CLIP-seq
MIRT2478525	hsa-miR-548c-3p	CLIP-seq
MIRT2478526	hsa-miR-548u	CLIP-seq
MIRT2478527	hsa-miR-568	CLIP-seq
MIRT1935141	hsa-miR-573	CLIP-seq
MIRT2478528	hsa-miR-576-5p	CLIP-seq
MIRT2478529	hsa-miR-579	CLIP-seq
MIRT2478530	hsa-miR-587	CLIP-seq
MIRT2478531	hsa-miR-600	CLIP-seq
MIRT2478532	hsa-miR-607	CLIP-seq
MIRT2478533	hsa-miR-618	CLIP-seq
MIRT2478534	hsa-miR-620	CLIP-seq
MIRT2478535	hsa-miR-630	CLIP-seq
MIRT2478536	hsa-miR-642a	CLIP-seq
MIRT2478537	hsa-miR-656	CLIP-seq
MIRT1935142	hsa-miR-761	CLIP-seq
MIRT2175200	hsa-miR-762	CLIP-seq
MIRT796363	hsa-miR-875-5p	CLIP-seq
MIRT2478538	hsa-miR-892a	CLIP-seq
MIRT796364	hsa-miR-92a	CLIP-seq
MIRT796365	hsa-miR-92b	CLIP-seq
MIRT796393	hsa-miR-943	CLIP-seq
MIRT2478539	hsa-miR-944	CLIP-seq
MIRT2478540	hsa-miR-98	CLIP-seq
MIRT2478407	hsa-let-7a	CLIP-seq
MIRT2478408	hsa-let-7b	CLIP-seq
MIRT2478409	hsa-let-7c	CLIP-seq
MIRT2478410	hsa-let-7d	CLIP-seq
MIRT2478411	hsa-let-7e	CLIP-seq
MIRT2478412	hsa-let-7f	CLIP-seq
MIRT2478413	hsa-let-7g	CLIP-seq
MIRT2478414	hsa-let-7i	CLIP-seq
MIRT2478415	hsa-miR-103a	CLIP-seq
MIRT2478416	hsa-miR-107	CLIP-seq
MIRT2478417	hsa-miR-1180	CLIP-seq
MIRT796341	hsa-miR-1225-3p	CLIP-seq
MIRT796342	hsa-miR-1233	CLIP-seq
MIRT2478418	hsa-miR-1236	CLIP-seq
MIRT2478419	hsa-miR-1243	CLIP-seq
MIRT2478420	hsa-miR-1245b-3p	CLIP-seq
MIRT2478421	hsa-miR-1253	CLIP-seq
MIRT796344	hsa-miR-1262	CLIP-seq
MIRT2478422	hsa-miR-1270	CLIP-seq
MIRT2478423	hsa-miR-1291	CLIP-seq
MIRT796366	hsa-miR-129-5p	CLIP-seq
MIRT2478424	hsa-miR-1298	CLIP-seq
MIRT2478425	hsa-miR-190	CLIP-seq
MIRT2478426	hsa-miR-190b	CLIP-seq
MIRT2478428	hsa-miR-200b	CLIP-seq
MIRT2478429	hsa-miR-200c	CLIP-seq
MIRT2478430	hsa-miR-2115	CLIP-seq
MIRT2478431	hsa-miR-2116	CLIP-seq
MIRT1935128	hsa-miR-214	CLIP-seq
MIRT2478432	hsa-miR-217	CLIP-seq
MIRT796348	hsa-miR-25	CLIP-seq
MIRT2478433	hsa-miR-298	CLIP-seq
MIRT2478435	hsa-miR-3064-3p	CLIP-seq
MIRT796369	hsa-miR-3136-5p	CLIP-seq
MIRT2478437	hsa-miR-3137	CLIP-seq
MIRT796350	hsa-miR-3144-3p	CLIP-seq
MIRT2478438	hsa-miR-3149	CLIP-seq
MIRT2478439	hsa-miR-3150b-3p	CLIP-seq
MIRT2478440	hsa-miR-3153	CLIP-seq
MIRT2478442	hsa-miR-3163	CLIP-seq
MIRT2478443	hsa-miR-3171	CLIP-seq
MIRT2175189	hsa-miR-3184	CLIP-seq
MIRT1935129	hsa-miR-3190	CLIP-seq
MIRT796351	hsa-miR-32	CLIP-seq
MIRT2478444	hsa-miR-3201	CLIP-seq
MIRT1935130	hsa-miR-3202	CLIP-seq
MIRT2478445	hsa-miR-323-3p	CLIP-seq
MIRT2478446	hsa-miR-328	CLIP-seq
MIRT2478448	hsa-miR-3607-3p	CLIP-seq
MIRT2478450	hsa-miR-361-3p	CLIP-seq
MIRT1935131	hsa-miR-3616-5p	CLIP-seq
MIRT1935132	hsa-miR-3619-5p	CLIP-seq
MIRT796353	hsa-miR-363	CLIP-seq
MIRT1935133	hsa-miR-3647-5p	CLIP-seq
MIRT2478452	hsa-miR-3654	CLIP-seq
MIRT2478453	hsa-miR-3655	CLIP-seq
MIRT2478455	hsa-miR-3664-5p	CLIP-seq
MIRT796354	hsa-miR-367	CLIP-seq
MIRT2478456	hsa-miR-3673	CLIP-seq
MIRT2478457	hsa-miR-3678-3p	CLIP-seq
MIRT2478458	hsa-miR-3679-3p	CLIP-seq
MIRT2478459	hsa-miR-3686	CLIP-seq
MIRT2478460	hsa-miR-3689a-3p	CLIP-seq
MIRT2478461	hsa-miR-3689c	CLIP-seq
MIRT1935134	hsa-miR-382	CLIP-seq
MIRT2675358	hsa-miR-3912	CLIP-seq
MIRT2478463	hsa-miR-3921	CLIP-seq
MIRT2478464	hsa-miR-3924	CLIP-seq
MIRT2478465	hsa-miR-3927	CLIP-seq
MIRT1935135	hsa-miR-3974	CLIP-seq
MIRT2478467	hsa-miR-3977	CLIP-seq
MIRT2478468	hsa-miR-410	CLIP-seq
MIRT2175190	hsa-miR-423-5p	CLIP-seq
MIRT2478470	hsa-miR-4263	CLIP-seq
MIRT2478472	hsa-miR-429	CLIP-seq
MIRT2478474	hsa-miR-4303	CLIP-seq
MIRT2478475	hsa-miR-4318	CLIP-seq
MIRT2175191	hsa-miR-4320	CLIP-seq
MIRT2478476	hsa-miR-4328	CLIP-seq
MIRT2478477	hsa-miR-4422	CLIP-seq
MIRT796378	hsa-miR-4439	CLIP-seq
MIRT2175192	hsa-miR-4450	CLIP-seq
MIRT2478479	hsa-miR-4451	CLIP-seq
MIRT2478481	hsa-miR-4458	CLIP-seq
MIRT796379	hsa-miR-4490	CLIP-seq
MIRT2175193	hsa-miR-4492	CLIP-seq
MIRT2675359	hsa-miR-4496	CLIP-seq
MIRT2175194	hsa-miR-4498	CLIP-seq
MIRT2478482	hsa-miR-4500	CLIP-seq
MIRT2175195	hsa-miR-4505	CLIP-seq
MIRT2478484	hsa-miR-451b	CLIP-seq
MIRT2478485	hsa-miR-452	CLIP-seq
MIRT2478486	hsa-miR-4531	CLIP-seq
MIRT1935137	hsa-miR-4533	CLIP-seq
MIRT2478487	hsa-miR-4649-3p	CLIP-seq
MIRT2478488	hsa-miR-4653-5p	CLIP-seq
MIRT2478489	hsa-miR-4659a-3p	CLIP-seq
MIRT2478490	hsa-miR-4659b-3p	CLIP-seq
MIRT2478491	hsa-miR-4664-3p	CLIP-seq
MIRT2175196	hsa-miR-4667-5p	CLIP-seq
MIRT2478492	hsa-miR-4668-5p	CLIP-seq
MIRT1935138	hsa-miR-4670-3p	CLIP-seq
MIRT2478493	hsa-miR-4676-3p	CLIP-seq
MIRT2478494	hsa-miR-4677-3p	CLIP-seq
MIRT2478495	hsa-miR-4677-5p	CLIP-seq
MIRT2478496	hsa-miR-4679	CLIP-seq
MIRT2478497	hsa-miR-4682	CLIP-seq
MIRT2478498	hsa-miR-4683	CLIP-seq
MIRT2478499	hsa-miR-4689	CLIP-seq
MIRT1935139	hsa-miR-4690-5p	CLIP-seq
MIRT2478500	hsa-miR-4693-5p	CLIP-seq
MIRT2175197	hsa-miR-4700-5p	CLIP-seq
MIRT796358	hsa-miR-4701-3p	CLIP-seq
MIRT2478502	hsa-miR-4710	CLIP-seq
MIRT2478503	hsa-miR-4712-3p	CLIP-seq
MIRT2478504	hsa-miR-4714-5p	CLIP-seq
MIRT2175198	hsa-miR-4731-5p	CLIP-seq
MIRT2175199	hsa-miR-4737	CLIP-seq
MIRT2478505	hsa-miR-4753-3p	CLIP-seq
MIRT2478507	hsa-miR-4766-3p	CLIP-seq
MIRT2478508	hsa-miR-4768-5p	CLIP-seq
MIRT2478510	hsa-miR-4784	CLIP-seq
MIRT2478511	hsa-miR-4791	CLIP-seq
MIRT2478512	hsa-miR-4792	CLIP-seq
MIRT2478513	hsa-miR-4799-5p	CLIP-seq
MIRT2478515	hsa-miR-491-3p	CLIP-seq
MIRT1935140	hsa-miR-493	CLIP-seq
MIRT2478516	hsa-miR-496	CLIP-seq
MIRT2478517	hsa-miR-509-3p	CLIP-seq
MIRT796362	hsa-miR-513a-3p	CLIP-seq
MIRT2478518	hsa-miR-513c	CLIP-seq
MIRT2478519	hsa-miR-514b-5p	CLIP-seq
MIRT2478520	hsa-miR-516a-3p	CLIP-seq
MIRT2478524	hsa-miR-548ad	CLIP-seq
MIRT2478525	hsa-miR-548c-3p	CLIP-seq
MIRT2675360	hsa-miR-561	CLIP-seq
MIRT2478527	hsa-miR-568	CLIP-seq
MIRT1935141	hsa-miR-573	CLIP-seq
MIRT2478528	hsa-miR-576-5p	CLIP-seq
MIRT2478529	hsa-miR-579	CLIP-seq
MIRT2478530	hsa-miR-587	CLIP-seq
MIRT2478532	hsa-miR-607	CLIP-seq
MIRT2478533	hsa-miR-618	CLIP-seq
MIRT2478534	hsa-miR-620	CLIP-seq
MIRT2478535	hsa-miR-630	CLIP-seq
MIRT2478537	hsa-miR-656	CLIP-seq
MIRT1935142	hsa-miR-761	CLIP-seq
MIRT2175200	hsa-miR-762	CLIP-seq
MIRT796363	hsa-miR-875-5p	CLIP-seq
MIRT2478538	hsa-miR-892a	CLIP-seq
MIRT796364	hsa-miR-92a	CLIP-seq
MIRT796365	hsa-miR-92b	CLIP-seq
MIRT796393	hsa-miR-943	CLIP-seq
MIRT2478539	hsa-miR-944	CLIP-seq
MIRT2478540	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003677	Function	DNA binding	IDA	15170388
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	NAS	11734557
GO:0005515	Function	Protein binding	IPI	12200431, 33961781, 35271311, 36950384
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
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	11263494, 17340523, 17920018
GO:0007399	Process	Nervous system development	IEA
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	11734557
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369
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	NAS	11734557
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IBA
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
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
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 614556
• HGNC: 18040
• e!Ensembl: ENSG00000049618

Protein

• UniProt ID: Q8NFD5
• Protein name: AT-rich interactive domain-containing protein 1B (ARID domain-containing protein 1B) (BRG1-associated factor 250b) (BAF250B) (BRG1-binding protein hELD/OSA1) (Osa homolog 2) (hOsa2) (p250R)
• 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: 2CXY, 2EH9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01388	ARID	1055 → 1140	ARID/BRIGHT DNA binding domain	Domain
  PF12031	BAF250_C	1927 → 2182	SWI/SNF-like complex subunit BAF250/Osa	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with high levels in heart, skeletal muscle and kidney. {ECO:0000269|PubMed:11988099, ECO:0000269|PubMed:12200431, ECO:0000269|PubMed:12665591}.
• Sequence:

  MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAME
  TGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQ
  QQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
  KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPA
  SGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPG
  YSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
  SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLN
  QLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMG
  AQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
  QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPY
  YSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQE
  RPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPG
  GPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFM
  AGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNY
  SRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNM
  SSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLM
  ASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGK
  EEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAV
  GKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFE
  CKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPP
  TPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRM
  PYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGA
  SYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYN
  MQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQ
  SSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWP
  SHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSP
  FLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVT
  PEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLID
  IFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSE
  KTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFN
  SGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSI
  IATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCT
  IAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQ
  TYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLL
  HWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYA
  TLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQ
  QSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNS
  LVASVICDVLFQIGQL

• Sequence length: 2236

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
Acute myeloid leukemia	Pathogenic	rs2128377544	RCV005922798	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenal cortex carcinoma	Pathogenic	rs2128366503	RCV004813171	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARID1B-related BAFopathy	Pathogenic; Likely pathogenic	rs1791374798, rs1554265253, rs2128210962, rs2128275227, rs1314750809, rs2128634170, rs138254872, rs2128316571, rs2128316690, rs1554231205, rs2128325986, rs2128366431, rs2128372410, rs2128372755, rs2128385309, rs2128392335, rs2128394491, rs2128394615, rs2128396828, rs2128397593, rs756960968, rs794727977, rs797045277, rs1057518045, rs1057518648, rs1057518691, rs387907141, rs387907144, rs1554237658, rs1554236040, rs1554256703, rs1554238035, rs1554265271, rs1562328526, rs1562331655, rs772973856, rs1554235834, rs1562347066, rs1562355401, rs1583438967, rs1554232919, rs1289067120, rs1583502875, rs1131691339, rs1779004027, rs1554237850	RCV001533111 RCV001533086 RCV001533088 RCV001533089 RCV001533091 RCV001533108 RCV001533109 RCV001533113 RCV001533114 RCV001533115 RCV001533121 RCV001533020 RCV001533022 RCV001533023 RCV001533028 RCV001533029 RCV001533030 RCV001533031 RCV001533033 RCV001533060 RCV001533062 RCV001533110 RCV001533021 RCV001533090 RCV001533081 RCV001533123 RCV001533118 RCV001533116 RCV001533032 RCV001533026 RCV001533085 RCV001533061 RCV001533087 RCV001533117 RCV001533119 RCV001533019 RCV001533024 RCV001533027 RCV001533063 RCV001533112 RCV001533120 RCV001533122 RCV001533025 RCV001533083 RCV001533082 RCV001533034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARID1B-related disorder	Likely pathogenic; Pathogenic	rs797045277, rs797045282, rs797045283, rs35441529, rs2538152246, rs2538508020, rs2538755076, rs2534823217, rs387907144, rs1778945620	RCV004528976 RCV004725042 RCV004737299 RCV003336836 RCV004527964 RCV004528038 RCV004528006 RCV004528745 RCV004737163 RCV004545161	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism spectrum disorder	Pathogenic	rs794727977, rs1554301257	RCV001291271 RCV001291272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs1554236040	RCV005898750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs797045277	RCV005934621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin Siris/Intellectual Disability	Pathogenic	rs587779745, rs587779746	RCV000114274 RCV000114275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome	Likely pathogenic; Pathogenic	rs2128372930, rs2128393408, rs1057519009, rs1057518984, rs1554231904, rs1583451360, rs1794042593, rs1794456297	RCV001375856 RCV001526388 RCV000414768 RCV000414844 RCV003313141 RCV006449374 RCV001195289 RCV001249783	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome 1	Pathogenic; Likely pathogenic	rs1791374798, rs2128210922, rs2128303803, rs2128397334, rs1583451360, rs1554231205, rs1182325800, rs1369594791, rs2128374526, rs1554226001, rs1778944605, rs2128210949, rs2115000174, rs2128634579, rs1554235841, rs2128394676, rs2114999746, rs2128393700, rs1554236027, rs2128366725, rs2128396622, rs2128317569, rs2128374043, rs1794274425, rs2128210848, rs2128339990, rs2128395778, rs2128377544, rs2128325428, rs2128391037, rs2128633891, rs773640553, rs1554235541, rs2128462015, rs2128385522, rs2128325440, rs2128398868, rs2128392250, rs2128399165, rs2128290268, rs1554235505, rs2538674041, rs2538754639, rs2538754819, rs2546840548, rs2538677887, rs2537640975, rs1554235916, rs2538683847, rs1168117828, rs761227259, rs2538250313, rs2546837371, rs2538681872, rs2538669304, rs2538355363, rs2538639034, rs2128395673, rs786205584, rs2538768546, rs794727977, rs753933273, rs797045272, rs797045277, rs797045278, rs797045279, rs797045280, rs797045281, rs797045282, rs797045283, rs2538678370, rs2128375131, rs869312697, rs869312712, rs2128355925, rs2538782467, rs1794042593, rs1554247377, rs2128634414, rs2538779301, rs1779009539, rs2538498293, rs1554237988, rs2538762702, rs2547122632, rs879253746, rs2538789882, rs2538148588, rs2128463505, rs1380267781, rs2538755076, rs2538781228, rs886040958, rs750447037, rs35441529, rs886041878, rs886041706, rs2547121857, rs2538793280, rs2537641958, rs1554231792, rs2128325330, rs2128373069, rs2538775159, rs2538639222, rs2546838229, rs2538772819, rs886044620, rs2538766341, rs2128398457, rs1554237332, rs1554226145, rs2538690501, rs2537883228, rs1583439013, rs1554247989, rs1778885211, rs2538767958, rs2547124143, rs1554238124, rs2128391447, rs2535350159, rs2546829263, rs2538499186, rs2538725903, rs2538783302, rs1794583960, rs2128374644, rs2538781275, rs2538498109, rs2546846179, rs2535348456, rs2538640861, rs2537075380, rs1057518045, rs1057518951, rs1057518648, rs1057518691, rs1060499668, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs1554294674, rs1064793482, rs1085307818, rs1085307695, rs1131691706, rs1131692263, rs1028186690, rs1554248236, rs1554265319, rs1554301230, rs1554231836, rs1554231845, rs1554234341, rs1554237269, rs1554265275, rs1554270809, rs1554294698, rs1404726383, rs758120346, rs1554231278, rs1554298232, rs1554238072, rs773740590, rs1554237992, rs1554237658, rs1554233122, rs1554236040, rs1554256703, rs201653711, rs1554238035, rs1554237785, rs1554232959, rs1554265271, rs1562328526, rs1562331655, rs772973856, rs1554235834, rs1562347066, rs1562355401, rs377021700, rs1451259945, rs1562345819, rs1554294593, rs1562350940, rs1554231904, rs1562354784, rs1583469292, rs1582908829, rs1583280025, rs1583368813, rs1583513256, rs1583516082, rs1583438967, rs1554232919, rs1583280152, rs1289067120, rs1583451146, rs1583502875, rs1554248082, rs1583491381, rs1583491515, rs1583518354, rs754167205, rs943407609, rs1417035592, rs1794276185, rs1554265316, rs1554232925, rs1131691339, rs1794570475, rs1554235041, rs902091666, rs1794456297, rs1794550318, rs1779004027, rs1779032666, rs1289149988, rs1791918216, rs1794283740, rs1794053879, rs1794490994, rs1794584714, rs1554237335, rs1792478147, rs1554234402, rs1554301257, rs1554237850	RCV001336510 RCV001420517 RCV001788501 RCV001788500 RCV001527606 RCV005432746 RCV001542338 RCV001543360 RCV002464466 RCV001822882 RCV001564040 RCV001574078 RCV001682634 RCV001706907 RCV001771814 RCV001775226 RCV001775282 RCV001775283 RCV001775449 RCV001784792 RCV001784793 RCV001785960 RCV001808233 RCV001809077 RCV001814611 RCV001814685 RCV001843736 RCV002246549 RCV002052163 RCV002052226 RCV002074476 RCV002226564 RCV002226988 RCV002249270 RCV002249271 RCV002250438 RCV002250842 RCV002250995 RCV002262196 RCV002267788 RCV002272912 RCV002283634 RCV002283887 RCV002283919 RCV002285089 RCV002285205 RCV002288348 RCV002290255 RCV002291362 RCV002302432 RCV002465428 RCV002466322 RCV002466857 RCV002471333 RCV002471483 RCV002471806 RCV002472054 RCV002470630 RCV003989483 RCV004698879 RCV001330749 RCV000195185 RCV000193875 RCV000416951 RCV000193003 RCV000195050 RCV000193070 RCV000194488 RCV000193164 RCV000194737 RCV005869950 RCV005415652 RCV000209939 RCV000209876 RCV003140494 RCV003140573 RCV003134975 RCV003132013 RCV003148239 RCV003148411 RCV003149146 RCV003152889 RCV003153005 RCV003153066 RCV003153108 RCV001807149 RCV003219197 RCV003223499 RCV003225658 RCV003226094 RCV003226095 RCV003226096 RCV000258010 RCV001807205 RCV001253312 RCV001807206 RCV000503710 RCV003229531 RCV003233450 RCV003233451 RCV003314269 RCV003314319 RCV003314378 RCV003314439 RCV003315102 RCV004594691 RCV003330048 RCV001197143 RCV003387591 RCV003389099 RCV003444039 RCV003444085 RCV003447695 RCV003448542 RCV003456355 RCV003494078 RCV005230547 RCV005871288 RCV003647245 RCV003983782 RCV003985164 RCV003985219 RCV003990206 RCV004006244 RCV004527546 RCV004555478 RCV004556168 RCV004556169 RCV004584281 RCV004594887 RCV004594889 RCV004595138 RCV004595140 RCV004595379 RCV001336508 RCV001196338 RCV000414923 RCV000415272 RCV005603625 RCV000024207 RCV000024208 RCV000024209 RCV000024210 RCV000024211 RCV000024212 RCV000024213 RCV000024214 RCV000024215 RCV000024216 RCV001807257 RCV003985791 RCV001809445 RCV001262987 RCV001807260 RCV000496047 RCV000496177 RCV000501251 RCV000502354 RCV000504133 RCV000500865 RCV000502765 RCV000500042 RCV000501931 RCV000505206 RCV000505250 RCV000505251 RCV000505225 RCV000505205 RCV001775127 RCV001775129 RCV000995695 RCV000578297 RCV000578385 RCV000625417 RCV002470920 RCV000677116 RCV000679918 RCV000763142 RCV001807308 RCV001784189 RCV000627688 RCV000679919 RCV000679920 RCV000679921 RCV000679922 RCV000679923 RCV000679925 RCV000679926 RCV000710059 RCV000723328 RCV002250688 RCV000760214 RCV000760273 RCV001807343 RCV000785962 RCV000788110 RCV000824814 RCV000824815 RCV000824974 RCV001775151 RCV002226742 RCV000850529 RCV000850528 RCV000851516 RCV000856774 RCV000856776 RCV000985099 RCV000985100 RCV000987807 RCV000987808 RCV000987809 RCV000987810 RCV000995694 RCV001807375 RCV001807376 RCV001027703 RCV001028057 RCV002272397 RCV003225960 RCV001198668 RCV001198074 RCV001197917 RCV001249188 RCV003225962 RCV001250800 RCV001251106 RCV001253257 RCV001253767 RCV001254113 RCV001261230 RCV001261229 RCV001262412 RCV001264729 RCV002464433 RCV001270399 RCV001283817 RCV004594267 RCV001332344 RCV001293711	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic	rs2115002258	RCV001391274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs2115002258, rs1057518951	RCV001391274 RCV000414997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
dysmorphy	Likely pathogenic	rs1057519002	RCV000414865	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs2537641323, rs1057518951, rs2538507411	RCV002463860 RCV000414997 RCV001255398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirsutism	Likely pathogenic	rs1778806787	RCV001261231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrichosis	Pathogenic	rs1057518951	RCV000414997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
intellectual deficiency	Likely pathogenic	rs1057519002	RCV000414865	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs1554231836, rs1417035592, rs1779015991, rs1554265275, rs1786823829, rs1554235882, rs1057518984, rs1794563443, rs1779032666, rs1778806787	RCV001249528 RCV001293361 RCV001249529 RCV001249531 RCV001249533 RCV001249530 RCV001249532 RCV001249526 RCV001255334 RCV001261231	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs1583513256, rs1583516082	RCV000850421 RCV000850432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Pathogenic	rs1554231278	RCV000505583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs1028186690, rs1554236040	RCV006254075 RCV006254111	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nail dysplasia	Pathogenic	rs1057518951	RCV000414997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal hypotonia	Pathogenic	rs1057518951	RCV000414997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs1057518918	RCV006273720	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs2546839479	RCV005241256	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2128393408	RCV002274196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2114999450	RCV001780003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nicolaides-Baraitser syndrome	Pathogenic	rs1060499668	RCV000449505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs886039679	RCV005895451	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Pathogenic	rs1794569741	RCV001256996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency due to DCLRE1C deficiency	Likely pathogenic; Pathogenic	rs1583513256	RCV004761839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs1554236040	RCV005898749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs2128377544	RCV005922797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wiedemann-Steiner syndrome	Likely pathogenic	rs1778991763	RCV001261228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Benign; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIEDEMANN STEINER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
6q25 microdeletion syndrome	6q25 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
6q25 microdeletion syndrome	6q25 microdeletion syndrome	BEFREE	26754677		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	29108917		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31077186, 31516032		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	27063598		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30868896		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	21801163, 33270637	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30933046		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	35853630	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28863077		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	29596882	Associate	★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	28525603	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	28691782	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27203213	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26637798, 32887689, 35110736	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29184203, 30149092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21448237, 21801163, 26749308, 35110736	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21801163, 25250687, 26749308, 30260819, 30933046		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28525603	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29151933		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31483290	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21969366, 24248812, 36766731	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34386776	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27562491		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	28863077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	27562491	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28415691	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29151933		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27562491	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	25233892	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
CHROMOSOME 6q24-q25 DELETION SYNDROME	6q24-q25 Deletion Syndrome	ORPHANET_DG	22405089		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	CTD_human_DG	22426308, 22426309		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	22426309, 23637025, 23815551, 24569609, 24674232, 26376624, 27570168, 30055038, 30349098, 30696996, 30838730, 30933046, 31421289, 31628733, 31658463		★★★★★ 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	CLINGEN_DG	23906836, 26340334, 29184203, 31628733		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG	25294932		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31796878		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31796878	Associate	★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26395437, 30349098, 39355979	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	27511161		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dilatation of ureter	Congenital megaureter	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital talipes calcaneovalgus	Congenital Talipes Calcaneovalgus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31444140		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	37086723	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_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
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	29859070	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28691782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	28691782, 31077186, 34753942	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30104294, 31646724		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26376624		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11170086, 16691594, 20086098, 21801163, 22405089, 22426308, 22426309, 23906836, 23929686, 24267886, 24569609, 24674232, 25169814, 25363768, 25674384, 26376624, 26395437, 27389779, 28867767, 6499251		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	26395437		★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28863077		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28863077, 33622519, 34386776, 36958196	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31990679	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	35239432	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27974047	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	22426309, 26350204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	BEFREE	25250687, 31440489		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	26376624, 35110736, 35964110	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34324492	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	24569609	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	27511161		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG	27511161		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	24569609	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis pilaris	Hyperkeratosis Pilaris	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17557929, 19304780		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	24674232		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrichosis	Hypertrichosis	Pubtator	24674232, 30349098, 32399990	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	BEFREE	31646724		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35672450	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21801163, 24253858, 24674232, 26340334, 26350204, 26376624, 26395437, 28539120, 28691782, 30349098, 31077186, 31088393, 31658463, 34440449, 34706719	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	22405089, 22426309, 23637025, 24674232, 25250687, 25356899, 26350204, 26376624, 26395437, 27264197, 28691782, 29184203, 30149092, 30349098, 30696996, 30933046, 31077186		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intussusception	Intussusception	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	36352633	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31990679, 37387408	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	27063598, 37387408	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31064779, 31077186, 31432695, 31516032		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	27562491	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22634756		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28415691, 28892047		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27737960		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28759038, 33853833	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CLINVAR_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 neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23660946		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29151933		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24562383, 28415691		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12	Mental retardation	GENOMICS_ENGLAND_DG	22405089, 30349098		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12	Mental retardation	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microdontia (disorder)	Microdontia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11170086, 16691594, 20086098, 21801163, 22405089, 22426308, 22426309, 23906836, 23929686, 24267886, 24569609, 24674232, 25169814, 25363768, 25674384, 26376624, 26395437, 27389779, 28867767, 6499251		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11170086, 16691594, 20086098, 21801163, 22405089, 22426308, 22426309, 23906836, 23929686, 24267886, 24569609, 24674232, 25169814, 25356970, 25363768, 25674384, 26376624, 26395437, 27389779, 28867767, 6499251		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	23660946, 24382590, 27562491, 28415691, 28521285, 29151933, 29505425		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23202128, 28521285		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	23202128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	23202128, 26340334, 28521285	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22405089, 31077186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
neurofibroma	Neurofibroma	BEFREE	26904939		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	30838730, 31421289		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24569609	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	18067551	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29890703		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28888422, 28967863, 29890703	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23660946		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22233809, 34375311	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23660946	Inhibit	★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	23834954	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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29184203, 30149092		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	24569609		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	24569609	Associate	★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28525603	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe expressive language delay	Expressive language delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21801163		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31559568		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	21801163, 22426309, 23637025		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33481850	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous Panniculitis-Like T-Cell Lymphoma	BEFREE	31702703		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	29151933		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30867762		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	31077186		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	28863077		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG	22426309, 26350204		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	24366360	Associate	★☆☆☆☆ Found in Text Mining only