BPTF (bromodomain PHD finger transcription factor)

Gene

• Entrez ID: 2186
• Gene name: Bromodomain PHD finger transcription factor
• Gene symbol: BPTF
• Synonyms (NCBI Gene): FAC1, FALZ, NEDDFL, NURF301
• Chromosome: 17
• Chromosome location: 17q24.2
• Summary: This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer`s disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs753044214	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs782736894	T>C,G	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1135401778	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1158151918	C>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs1425998598	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555639076	A>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1555639411	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1555649483	GAAGGACCAAGG>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1555652383	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555652826	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555693714	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1568070621	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598050118	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598468564	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598599641	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598681680	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1599044870	->T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018571	hsa-miR-335-5p	Microarray	18185580
MIRT052582	hsa-let-7a-5p	CLASH	23622248
MIRT051824	hsa-let-7c-5p	CLASH	23622248
MIRT050239	hsa-miR-25-3p	CLASH	23622248
MIRT047286	hsa-miR-181b-5p	CLASH	23622248
MIRT047009	hsa-miR-204-5p	CLASH	23622248
MIRT046732	hsa-miR-222-3p	CLASH	23622248
MIRT043889	hsa-miR-378a-3p	CLASH	23622248
MIRT043685	hsa-miR-342-3p	CLASH	23622248
MIRT039578	hsa-miR-33b-5p	CLASH	23622248
MIRT037859	hsa-miR-455-3p	CLASH	23622248
MIRT036935	hsa-miR-877-3p	CLASH	23622248
MIRT480738	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT480737	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT480733	hsa-miR-4257	HITS-CLIP	23706177
MIRT480731	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT480727	hsa-miR-4537	HITS-CLIP	23706177
MIRT480726	hsa-miR-1827	HITS-CLIP	23706177
MIRT480725	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT480724	hsa-miR-6086	HITS-CLIP	23706177
MIRT480723	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT480721	hsa-miR-3612	HITS-CLIP	23706177
MIRT480720	hsa-miR-650	HITS-CLIP	23706177
MIRT480719	hsa-miR-4792	HITS-CLIP	23706177
MIRT480718	hsa-miR-4710	HITS-CLIP	23706177
MIRT480715	hsa-miR-7855-5p	HITS-CLIP	23706177
MIRT675179	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT675178	hsa-miR-3677-5p	HITS-CLIP	23824327
MIRT675177	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT675176	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT675175	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT675174	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT675173	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT675172	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT675171	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT480740	hsa-miR-302f	PAR-CLIP	21572407
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT480733	hsa-miR-4257	PAR-CLIP	21572407
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT480727	hsa-miR-4537	PAR-CLIP	21572407
MIRT480726	hsa-miR-1827	PAR-CLIP	21572407
MIRT480725	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT480724	hsa-miR-6086	PAR-CLIP	21572407
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT480721	hsa-miR-3612	PAR-CLIP	21572407
MIRT480720	hsa-miR-650	PAR-CLIP	21572407
MIRT480719	hsa-miR-4792	PAR-CLIP	21572407
MIRT480718	hsa-miR-4710	PAR-CLIP	21572407
MIRT480717	hsa-miR-1273e	PAR-CLIP	21572407
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT538933	hsa-miR-3121-3p	PAR-CLIP	22012620
MIRT538932	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT538931	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT538930	hsa-miR-4724-3p	PAR-CLIP	22012620
MIRT538929	hsa-miR-3671	PAR-CLIP	22012620
MIRT538928	hsa-miR-607	PAR-CLIP	22012620
MIRT480740	hsa-miR-302f	PAR-CLIP	23592263
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT480736	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT480735	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT480734	hsa-miR-940	PAR-CLIP	23592263
MIRT480733	hsa-miR-4257	PAR-CLIP	23592263
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT480730	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT480728	hsa-miR-1273f	PAR-CLIP	23592263
MIRT480727	hsa-miR-4537	PAR-CLIP	23592263
MIRT480726	hsa-miR-1827	PAR-CLIP	23592263
MIRT480725	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT480724	hsa-miR-6086	PAR-CLIP	23592263
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT480721	hsa-miR-3612	PAR-CLIP	23592263
MIRT480720	hsa-miR-650	PAR-CLIP	23592263
MIRT480719	hsa-miR-4792	PAR-CLIP	23592263
MIRT480718	hsa-miR-4710	PAR-CLIP	23592263
MIRT480717	hsa-miR-1273e	PAR-CLIP	23592263
MIRT480716	hsa-miR-4642	PAR-CLIP	23592263
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT480728	hsa-miR-1273f	PAR-CLIP	26701625
MIRT050239	hsa-miR-25-3p	PAR-CLIP	26701625
MIRT480727	hsa-miR-4537	PAR-CLIP	26701625
MIRT480716	hsa-miR-4642	PAR-CLIP	26701625
MIRT480718	hsa-miR-4710	PAR-CLIP	26701625
MIRT480719	hsa-miR-4792	PAR-CLIP	26701625
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT480738	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT480737	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT480733	hsa-miR-4257	HITS-CLIP	23706177
MIRT480731	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT480727	hsa-miR-4537	HITS-CLIP	23706177
MIRT480726	hsa-miR-1827	HITS-CLIP	23706177
MIRT480725	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT480724	hsa-miR-6086	HITS-CLIP	23706177
MIRT480723	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT480721	hsa-miR-3612	HITS-CLIP	23706177
MIRT480720	hsa-miR-650	HITS-CLIP	23706177
MIRT480719	hsa-miR-4792	HITS-CLIP	23706177
MIRT480718	hsa-miR-4710	HITS-CLIP	23706177
MIRT480715	hsa-miR-7855-5p	HITS-CLIP	23706177
MIRT675179	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT675178	hsa-miR-3677-5p	HITS-CLIP	23824327
MIRT675177	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT675176	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT675175	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT675174	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT675173	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT675172	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT675171	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT480740	hsa-miR-302f	PAR-CLIP	21572407
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT480733	hsa-miR-4257	PAR-CLIP	21572407
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT480727	hsa-miR-4537	PAR-CLIP	21572407
MIRT480726	hsa-miR-1827	PAR-CLIP	21572407
MIRT480725	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT480724	hsa-miR-6086	PAR-CLIP	21572407
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT480721	hsa-miR-3612	PAR-CLIP	21572407
MIRT480720	hsa-miR-650	PAR-CLIP	21572407
MIRT480719	hsa-miR-4792	PAR-CLIP	21572407
MIRT480718	hsa-miR-4710	PAR-CLIP	21572407
MIRT480717	hsa-miR-1273e	PAR-CLIP	21572407
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT538933	hsa-miR-3121-3p	PAR-CLIP	22012620
MIRT538932	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT538931	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT538930	hsa-miR-4724-3p	PAR-CLIP	22012620
MIRT538929	hsa-miR-3671	PAR-CLIP	22012620
MIRT538928	hsa-miR-607	PAR-CLIP	22012620
MIRT480740	hsa-miR-302f	PAR-CLIP	23592263
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT480736	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT480735	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT480734	hsa-miR-940	PAR-CLIP	23592263
MIRT480733	hsa-miR-4257	PAR-CLIP	23592263
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT480730	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT480728	hsa-miR-1273f	PAR-CLIP	23592263
MIRT480727	hsa-miR-4537	PAR-CLIP	23592263
MIRT480726	hsa-miR-1827	PAR-CLIP	23592263
MIRT480725	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT480724	hsa-miR-6086	PAR-CLIP	23592263
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT480721	hsa-miR-3612	PAR-CLIP	23592263
MIRT480720	hsa-miR-650	PAR-CLIP	23592263
MIRT480719	hsa-miR-4792	PAR-CLIP	23592263
MIRT480718	hsa-miR-4710	PAR-CLIP	23592263
MIRT480717	hsa-miR-1273e	PAR-CLIP	23592263
MIRT480716	hsa-miR-4642	PAR-CLIP	23592263
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT823868	hsa-miR-1254	CLIP-seq
MIRT823869	hsa-miR-1255a	CLIP-seq
MIRT823870	hsa-miR-1255b	CLIP-seq
MIRT823871	hsa-miR-1264	CLIP-seq
MIRT823872	hsa-miR-1269	CLIP-seq
MIRT823873	hsa-miR-1269b	CLIP-seq
MIRT823874	hsa-miR-1288	CLIP-seq
MIRT823875	hsa-miR-147	CLIP-seq
MIRT823876	hsa-miR-153	CLIP-seq
MIRT823877	hsa-miR-15a	CLIP-seq
MIRT823878	hsa-miR-15b	CLIP-seq
MIRT823879	hsa-miR-16	CLIP-seq
MIRT823880	hsa-miR-195	CLIP-seq
MIRT823881	hsa-miR-3064-3p	CLIP-seq
MIRT823882	hsa-miR-3116	CLIP-seq
MIRT823883	hsa-miR-3140-3p	CLIP-seq
MIRT823884	hsa-miR-3152-5p	CLIP-seq
MIRT823885	hsa-miR-3177-5p	CLIP-seq
MIRT823886	hsa-miR-3187-3p	CLIP-seq
MIRT823887	hsa-miR-3605-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT823890	hsa-miR-3655	CLIP-seq
MIRT823891	hsa-miR-3672	CLIP-seq
MIRT823892	hsa-miR-3678-3p	CLIP-seq
MIRT823893	hsa-miR-374c	CLIP-seq
MIRT823894	hsa-miR-376a	CLIP-seq
MIRT823895	hsa-miR-376b	CLIP-seq
MIRT823896	hsa-miR-376c	CLIP-seq
MIRT823897	hsa-miR-3926	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT823899	hsa-miR-412	CLIP-seq
MIRT823900	hsa-miR-424	CLIP-seq
MIRT823901	hsa-miR-4261	CLIP-seq
MIRT823902	hsa-miR-4293	CLIP-seq
MIRT823903	hsa-miR-4420	CLIP-seq
MIRT823904	hsa-miR-4435	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT823907	hsa-miR-4452	CLIP-seq
MIRT823908	hsa-miR-448	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT823910	hsa-miR-4515	CLIP-seq
MIRT823911	hsa-miR-4520a-3p	CLIP-seq
MIRT823912	hsa-miR-4520b-3p	CLIP-seq
MIRT823913	hsa-miR-4524	CLIP-seq
MIRT823914	hsa-miR-4529-3p	CLIP-seq
MIRT823915	hsa-miR-4660	CLIP-seq
MIRT823916	hsa-miR-4690-5p	CLIP-seq
MIRT823917	hsa-miR-4700-3p	CLIP-seq
MIRT823918	hsa-miR-4701-5p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT823921	hsa-miR-4727-5p	CLIP-seq
MIRT823922	hsa-miR-4740-5p	CLIP-seq
MIRT823923	hsa-miR-4769-3p	CLIP-seq
MIRT823924	hsa-miR-4774-3p	CLIP-seq
MIRT823925	hsa-miR-4774-5p	CLIP-seq
MIRT823926	hsa-miR-4778-3p	CLIP-seq
MIRT823927	hsa-miR-494	CLIP-seq
MIRT823928	hsa-miR-497	CLIP-seq
MIRT823929	hsa-miR-503	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT823936	hsa-miR-548q	CLIP-seq
MIRT823937	hsa-miR-548s	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT823939	hsa-miR-561	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823941	hsa-miR-588	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT823943	hsa-miR-596	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT823946	hsa-miR-646	CLIP-seq
MIRT823947	hsa-miR-653	CLIP-seq
MIRT823948	hsa-miR-655	CLIP-seq
MIRT823949	hsa-miR-661	CLIP-seq
MIRT823950	hsa-miR-720	CLIP-seq
MIRT823951	hsa-miR-1324	CLIP-seq
MIRT823877	hsa-miR-15a	CLIP-seq
MIRT823878	hsa-miR-15b	CLIP-seq
MIRT823879	hsa-miR-16	CLIP-seq
MIRT823880	hsa-miR-195	CLIP-seq
MIRT823885	hsa-miR-3177-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT823894	hsa-miR-376a	CLIP-seq
MIRT823895	hsa-miR-376b	CLIP-seq
MIRT823896	hsa-miR-376c	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT823900	hsa-miR-424	CLIP-seq
MIRT823952	hsa-miR-4289	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT823913	hsa-miR-4524	CLIP-seq
MIRT823915	hsa-miR-4660	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT823928	hsa-miR-497	CLIP-seq
MIRT823929	hsa-miR-503	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT823939	hsa-miR-561	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT823946	hsa-miR-646	CLIP-seq
MIRT1943573	hsa-miR-1245b-3p	CLIP-seq
MIRT823871	hsa-miR-1264	CLIP-seq
MIRT823881	hsa-miR-3064-3p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT1943575	hsa-miR-3161	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT823890	hsa-miR-3655	CLIP-seq
MIRT1943576	hsa-miR-380	CLIP-seq
MIRT1943577	hsa-miR-3922-5p	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823902	hsa-miR-4293	CLIP-seq
MIRT1943579	hsa-miR-433	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT823907	hsa-miR-4452	CLIP-seq
MIRT1943580	hsa-miR-4495	CLIP-seq
MIRT1943581	hsa-miR-452	CLIP-seq
MIRT1943582	hsa-miR-4655-5p	CLIP-seq
MIRT1943583	hsa-miR-4662a-3p	CLIP-seq
MIRT1943584	hsa-miR-4676-3p	CLIP-seq
MIRT823917	hsa-miR-4700-3p	CLIP-seq
MIRT823921	hsa-miR-4727-5p	CLIP-seq
MIRT1943585	hsa-miR-4775	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT1943587	hsa-miR-548aa	CLIP-seq
MIRT1943588	hsa-miR-548ac	CLIP-seq
MIRT1943589	hsa-miR-548ae	CLIP-seq
MIRT1943590	hsa-miR-548aj	CLIP-seq
MIRT1943591	hsa-miR-548am	CLIP-seq
MIRT1943592	hsa-miR-548d-3p	CLIP-seq
MIRT1943593	hsa-miR-548x	CLIP-seq
MIRT1943594	hsa-miR-548z	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT823943	hsa-miR-596	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq
MIRT1943573	hsa-miR-1245b-3p	CLIP-seq
MIRT2182235	hsa-miR-1256	CLIP-seq
MIRT823871	hsa-miR-1264	CLIP-seq
MIRT2182236	hsa-miR-128	CLIP-seq
MIRT2182237	hsa-miR-1287	CLIP-seq
MIRT2182238	hsa-miR-1290	CLIP-seq
MIRT823875	hsa-miR-147	CLIP-seq
MIRT2182239	hsa-miR-148a	CLIP-seq
MIRT2182240	hsa-miR-148b	CLIP-seq
MIRT2182241	hsa-miR-152	CLIP-seq
MIRT823877	hsa-miR-15a	CLIP-seq
MIRT823878	hsa-miR-15b	CLIP-seq
MIRT823879	hsa-miR-16	CLIP-seq
MIRT823880	hsa-miR-195	CLIP-seq
MIRT2182242	hsa-miR-2278	CLIP-seq
MIRT2182243	hsa-miR-3065-3p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT1943575	hsa-miR-3161	CLIP-seq
MIRT2182244	hsa-miR-3167	CLIP-seq
MIRT823885	hsa-miR-3177-5p	CLIP-seq
MIRT2182245	hsa-miR-338-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT2182246	hsa-miR-3652	CLIP-seq
MIRT823890	hsa-miR-3655	CLIP-seq
MIRT823891	hsa-miR-3672	CLIP-seq
MIRT823892	hsa-miR-3678-3p	CLIP-seq
MIRT823894	hsa-miR-376a	CLIP-seq
MIRT823895	hsa-miR-376b	CLIP-seq
MIRT823896	hsa-miR-376c	CLIP-seq
MIRT1943576	hsa-miR-380	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT823899	hsa-miR-412	CLIP-seq
MIRT823900	hsa-miR-424	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823902	hsa-miR-4293	CLIP-seq
MIRT2182247	hsa-miR-4307	CLIP-seq
MIRT1943579	hsa-miR-433	CLIP-seq
MIRT823903	hsa-miR-4420	CLIP-seq
MIRT2182248	hsa-miR-4430	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT2182249	hsa-miR-4468	CLIP-seq
MIRT2182250	hsa-miR-4474-5p	CLIP-seq
MIRT2182251	hsa-miR-4492	CLIP-seq
MIRT1943580	hsa-miR-4495	CLIP-seq
MIRT2182252	hsa-miR-4498	CLIP-seq
MIRT2182253	hsa-miR-4508	CLIP-seq
MIRT823913	hsa-miR-4524	CLIP-seq
MIRT2182254	hsa-miR-4653-3p	CLIP-seq
MIRT1943582	hsa-miR-4655-5p	CLIP-seq
MIRT823915	hsa-miR-4660	CLIP-seq
MIRT1943583	hsa-miR-4662a-3p	CLIP-seq
MIRT2182255	hsa-miR-4666-3p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT2182256	hsa-miR-4709-3p	CLIP-seq
MIRT2182257	hsa-miR-4711-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT823926	hsa-miR-4778-3p	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT2182258	hsa-miR-491-3p	CLIP-seq
MIRT823928	hsa-miR-497	CLIP-seq
MIRT823929	hsa-miR-503	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT823936	hsa-miR-548q	CLIP-seq
MIRT2182259	hsa-miR-587	CLIP-seq
MIRT823943	hsa-miR-596	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT823946	hsa-miR-646	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq
MIRT2182260	hsa-miR-762	CLIP-seq
MIRT2182261	hsa-miR-876-5p	CLIP-seq
MIRT2444872	hsa-miR-129-5p	CLIP-seq
MIRT2444873	hsa-miR-320a	CLIP-seq
MIRT2444874	hsa-miR-320b	CLIP-seq
MIRT2444875	hsa-miR-320c	CLIP-seq
MIRT2444876	hsa-miR-320d	CLIP-seq
MIRT2444877	hsa-miR-4282	CLIP-seq
MIRT2444878	hsa-miR-4429	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT2444879	hsa-miR-518a-5p	CLIP-seq
MIRT2444880	hsa-miR-527	CLIP-seq
MIRT2444881	hsa-miR-548c-3p	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT2444872	hsa-miR-129-5p	CLIP-seq
MIRT2485940	hsa-miR-1305	CLIP-seq
MIRT823881	hsa-miR-3064-3p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT2485941	hsa-miR-3160-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT1943577	hsa-miR-3922-5p	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823952	hsa-miR-4289	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT1943581	hsa-miR-452	CLIP-seq
MIRT1943584	hsa-miR-4676-3p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT1943585	hsa-miR-4775	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT2182258	hsa-miR-491-3p	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT1943587	hsa-miR-548aa	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT823939	hsa-miR-561	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT823947	hsa-miR-653	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq
MIRT2444872	hsa-miR-129-5p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT2485941	hsa-miR-3160-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT1943577	hsa-miR-3922-5p	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT1943581	hsa-miR-452	CLIP-seq
MIRT1943584	hsa-miR-4676-3p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT1943585	hsa-miR-4775	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT2182258	hsa-miR-491-3p	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10727212
GO:0000785	Component	Chromatin	IDA	27141965
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0005515	Function	Protein binding	IPI	14609955, 15640247, 21596426, 22729083, 35271311
GO:0005634	Component	Nucleus	IDA	10403843, 14609955, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14609955
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7621746
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	14609955
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	14609955
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	10575013
GO:0007420	Process	Brain development	IMP	14609955
GO:0007420	Process	Brain development	NAS	14609955
GO:0007492	Process	Endoderm development	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	14609955
GO:0008270	Function	Zinc ion binding	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016589	Component	NURF complex	IBA
GO:0016589	Component	NURF complex	IDA	20850016
GO:0016589	Component	NURF complex	IEA
GO:0016589	Component	NURF complex	IPI	14609955
GO:0030425	Component	Dendrite	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	10403843
GO:0043565	Function	Sequence-specific DNA binding	IMP	10575013
GO:0044297	Component	Cell body	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14609955
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:1904949	Component	ATPase complex	IDA	14609955
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA

Other IDs

• MIM: 601819
• HGNC: 3581
• e!Ensembl: ENSG00000171634

Protein

• UniProt ID: Q12830
• Protein name: Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen)
• Protein function: Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription,
• PDB: 2F6J, 2F6N, 2FSA, 2FUI, 2FUU, 2RI7, 3QZS, 3QZT, 3QZV, 3UV2, 5H6Y, 5R4G, 5R4H, 5R4I, 5R4J, 5R4K, 5R4L, 5R4M, 5R4N, 5R4O, 6AZE, 6LU5, 6LU6, 7DMY, 7DN4, 7F5D, 7F5E, 7JT4, 7K6R, 7K6S, 7KDW, 7KDZ, 7LP0, 7LPK, 7LRK, 7LRO, 7M2E, 7RWN, 7RWO, 7RWP, 7RWQ, 7VD4, 8AG2, 8F6G, 8OU2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02791	DDT	241 → 297	DDT domain	Family
  PF00628	PHD	392 → 437	PHD-finger	Domain
  PF15613	WSD	456 → 524	Williams-Beuren syndrome DDT (WSD), D-TOX E motif	Family
  PF00628	PHD	2869 → 2918	PHD-finger	Domain
  PF00439	Bromodomain	2936 → 3019	Bromodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex (at protein level). {ECO:0000269|PubMed:10662542, ECO:0000269|PubMed:10727212, ECO:000026
• Sequence:

  MRGRRGRPPKQPAAPAAERCAPAPPPPPPPPTSGPIGGLRSRHRGSSRGRWAAAQAEVAP
  KTRLSSPRGGSSSRRKPPPPPPAPPSTSAPGRGGRGGGGGRTGGGGGGGHLARTTAARRA
  VNKVVYDDHESEEEEEEEDMVSEEEEEEDGDAEETQDSEDDEEDEMEEDDDDSDYPEEME
  DDDDDASYCTESSFRSHSTYSSTPGRRKPRVHRPRSPILEEKDIPPLEFPKSSEDLMVPN
  EHIMNVIAIYEVLRNFGTVLRLSPFRFEDFCAALVSQEQCTLMAEMHVVLLKAVLREEDT
  SNTTFGPADLKDSVNSTLYFIDGMTWPEVLRVYCESDKEYHHVLPYQEAEDYPYGPVENK
  IKVLQFLVDQFLTTNIAREELMSEGVIQYDDHCRVCHKLGDLLCCETCSAVYHLECVKPP
  LEEVPEDEWQCEVCVAHKVPGVTDCVAEIQKNKPYIRHEPIGYDRSRRKYWFLNRRLIIE
  EDTENENEKKIWYYSTKVQLAELIDCLDKDYWEAELCKILEEMREEIHRHMDITEDLTNK
  ARGSNKSFLAAANEEILESIRAKKGDIDNVKSPEETEKDKNETENDSKDAEKNREEFEDQ
  SLEKDSDDKTPDDDPEQGKSEEPTEVGDKGNSVSANLGDNTTNATSEETSPSEGRSPVGC
  LSETPDSSNMAEKKVASELPQDVPEEPNKTCESSNTSATTTSIQPNLENSNSSSELNSSQ
  SESAKAADDPENGERESHTPVSIQEEIVGDFKSEKSNGELSESPGAGKGASGSTRIITRL
  RNPDSKLSQLKSQQVAAAAHEANKLFKEGKEVLVVNSQGEISRLSTKKEVIMKGNINNYF
  KLGQEGKYRVYHNQYSTNSFALNKHQHREDHDKRRHLAHKFCLTPAGEFKWNGSVHGSKV
  LTISTLRLTITQLENNIPSSFLHPNWASHRANWIKAVQMCSKPREFALALAILECAVKPV
  VMLPIWRESLGHTRLHRMTSIEREEKEKVKKKEKKQEEEETMQQATWVKYTFPVKHQVWK
  QKGEEYRVTGYGGWSWISKTHVYRFVPKLPGNTNVNYRKSLEGTKNNMDENMDESDKRKC
  SRSPKKIKIEPDSEKDEVKGSDAAKGADQNEMDISKITEKKDQDVKELLDSDSDKPCKEE
  PMEVDDDMKTESHVNCQESSQVDVVNVSEGFHLRTSYKKKTKSSKLDGLLERRIKQFTLE
  EKQRLEKIKLEGGIKGIGKTSTNSSKNLSESPVITKAKEGCQSDSMRQEQSPNANNDQPE
  DLIQGCSESDSSVLRMSDPSHTTNKLYPKDRVLDDVSIRSPETKCPKQNSIENDIEEKVS
  DLASRGQEPSKSKTKGNDFFIDDSKLASADDIGTLICKNKKPLIQEESDTIVSSSKSALH
  SSVPKSTNDRDATPLSRAMDFEGKLGCDSESNSTLENSSDTVSIQDSSEEDMIVQNSNES
  ISEQFRTREQDVEVLEPLKCELVSGESTGNCEDRLPVKGTEANGKKPSQQKKLEERPVNK
  CSDQIKLKNTTDKKNNENRESEKKGQRTSTFQINGKDNKPKIYLKGECLKEISESRVVSG
  NVEPKVNNINKIIPENDIKSLTVKESAIRPFINGDVIMEDFNERNSSETKSHLLSSSDAE
  GNYRDSLETLPSTKESDSTQTTTPSASCPESNSVNQVEDMEIETSEVKKVTSSPITSEEE
  SNLSNDFIDENGLPINKNENVNGESKRKTVITEVTTMTSTVATESKTVIKVEKGDKQTVV
  SSTENCAKSTVTTTTTTVTKLSTPSTGGSVDIISVKEQSKTVVTTTVTDSLTTTGGTLVT
  SMTVSKEYSTRDKVKLMKFSRPKKTRSGTALPSYRKFVTKSSKKSIFVLPNDDLKKLARK
  GGIREVPYFNYNAKPALDIWPYPSPRPTFGITWRYRLQTVKSLAGVSLMLRLLWASLRWD
  DMAAKAPPGGGTTRTETSETEITTTEIIKRRDVGPYGIRSEYCIRKIICPIGVPETPKET
  PTPQRKGLRSSALRPKRPETPKQTGPVIIETWVAEEELELWEIRAFAERVEKEKAQAVEQ
  QAKKRLEQQKPTVIATSTTSPTSSTTSTISPAQKVMVAPISGSVTTGTKMVLTTKVGSPA
  TVTFQQNKNFHQTFATWVKQGQSNSGVVQVQQKVLGIIPSSTGTSQQTFTSFQPRTATVT
  IRPNTSGSGGTTSNSQVITGPQIRPGMTVIRTPLQQSTLGKAIIRTPVMVQPGAPQQVMT
  QIIRGQPVSTAVSAPNTVSSTPGQKSLTSATSTSNIQSSASQPPRPQQGQVKLTMAQLTQ
  LTQGHGGNQGLTVVIQGQGQTTGQLQLIPQGVTVLPGPGQQLMQAAMPNGTVQRFLFTPL
  ATTATTASTTTTTVSTTAAGTGEQRQSKLSPQMQVHQDKTLPPAQSSSVGPAEAQPQTAQ
  PSAQPQPQTQPQSPAQPEVQTQPEVQTQTTVSSHVPSEAQPTHAQSSKPQVAAQSQPQSN
  VQGQSPVRVQSPSQTRIRPSTPSQLSPGQQSQVQTTTSQPIPIQPHTSLQIPSQGQPQSQ
  PQVQSSTQTLSSGQTLNQVTVSSPSRPQLQIQQPQPQVIAVPQLQQQVQVLSQIQSQVVA
  QIQAQQSGVPQQIKLQLPIQIQQSSAVQTHQIQNVVTVQAASVQEQLQRVQQLRDQQQKK
  KQQQIEIKREHTLQASNQSEIIQKQVVMKHNAVIEHLKQKKSMTPAEREENQRMIVCNQV
  MKYILDKIDKEEKQAAKKRKREESVEQKRSKQNATKLSALLFKHKEQLRAEILKKRALLD
  KDLQIEVQEELKRDLKIKKEKDLMQLAQATAVAAPCPPVTPAPPAPPAPPPSPPPPPAVQ
  HTGLLSTPTLPAASQKRKREEEKDSSSKSKKKKMISTTSKETKKDTKLYCICKTPYDESK
  FYIGCDRCQNWYHGRCVGILQSEAELIDEYVCPQCQSTEDAMTVLTPLTEKDYEGLKRVL
  RSLQAHKMAWPFLEPVDPNDAPDYYGVIKEPMDLATMEERVQRRYYEKLTEFVADMTKIF
  DNCRYYNPSDSPFYQCAEVLESFFVQKLKGFKASRSHNNKLQSTAS

• Sequence length: 3046

Pathways

KEGG:

ATP-dependent chromatin remodeling

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
Expressive language delay	Pathogenic; Likely pathogenic	rs1135401778, rs1555639076, rs1555639411, rs1555649483, rs1555652383, rs1425998598, rs782736894, rs1555693714	RCV000577907 RCV000577876 RCV000577919 RCV000577909 RCV000577888 RCV000577877 RCV000577896 RCV000577911	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs1135401778, rs1555639076, rs1555639411, rs1555649483, rs1555652383, rs1425998598, rs782736894, rs1555693714	RCV000577907 RCV000577876 RCV000577919 RCV000577909 RCV000577888 RCV000577877 RCV000577896 RCV000577911	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs1135401778	RCV000496129	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147954548	RCV002274319	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2512645913	RCV003389183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Likely pathogenic; Pathogenic	rs753210939, rs2069336193, rs2147247193, rs2146269629, rs2148293838, rs2147907396, rs2144998926, rs2147246788, rs2144999012, rs1259365489, rs2511711803, rs2513705006, rs2512646880, rs2511450754, rs1135401778, rs1555639411, rs1555652383, rs782736894, rs1555693714, rs1599044870, rs1598050118, rs2055932118, rs2063551300	RCV001329897 RCV001333252 RCV001527610 RCV001771797 RCV001771823 RCV001802369 RCV001809299 RCV001837173 RCV001837174 RCV002260902 RCV002287614 RCV003992647 RCV003993699 RCV004595143 RCV000515336 RCV000515231 RCV000515333 RCV000515238 RCV000515433 RCV000850179 RCV001028091 RCV001254180 RCV004799479	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Secondary microcephaly	Pathogenic; Likely pathogenic	rs1135401778, rs1555639076, rs1555639411, rs1555649483, rs1555652383, rs1425998598, rs782736894, rs1555693714	RCV000577907 RCV000577876 RCV000577919 RCV000577909 RCV000577888 RCV000577877 RCV000577896 RCV000577911	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
17Q24.2 MICRODELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BPTF-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BPTF-RELATED INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM-SKELETAL ANOMALIES SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BPTF-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kaposi sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kaposi sarcoma, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA, KAPOSI	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
17q24.2 microdeletion syndrome	17q24.2 microdeletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	29427526		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	22797724, 27501781, 31326317		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	22797724		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28025329, 30481052		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34079550	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	24121791		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30103209		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33522091	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24884718, 31278301	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	28969075		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	28820917	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30103209		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33232269, 36367018	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25716692		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35342352	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18264947		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11583616, 14609955, 16264191, 16728978, 16774993, 18334252, 18794365, 18848651, 18974875, 19713963, 22166941, 22366787, 22426308, 24700502, 26014595, 27513193, 28942966, 8521501, 9225734		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28942966		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34586744	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Fifth finger distal phalanx clinodactyly	Fifth finger distal phalanx clinodactyly	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30542695		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30542695	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28942966		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG	28942966		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36514216	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28942966		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37987160	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37987160	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30419422		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34079550	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28121349	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30481052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	24121791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30103209		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26729287, 28969075, 30419422, 30780018, 31278301		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28969075, 31278301		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27185926		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27185926	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28942966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	30214071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28969075		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11583616, 14609955, 16264191, 16728978, 16774993, 18334252, 18794365, 18848651, 18974875, 19713963, 22166941, 22366787, 22426308, 24700502, 26014595, 27513193, 28942966, 8521501, 9225734		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24121791, 25716692, 30103209, 30542695, 31844250		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10403843		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16137655		★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	UNIPROT_DG	28942966		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	GENOMICS_ENGLAND_DG	28942966		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29158550, 29696806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28121349, 31104301		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	31326317		★☆☆☆☆ Found in Text Mining only
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36068586	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus after birth at term	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent pupillary membranes	Persistent Pupillary Membranes	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25854761		★★☆☆☆ 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	36514216	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	33522091	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	CLINVAR_DG	28942966		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33522091	Associate	★☆☆☆☆ Found in Text Mining only
Severe expressive language delay	Expressive language delay	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG	28942966		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	28942966		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29763634		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35421923, 37863665	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	36514216	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only