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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2186
Gene name Gene Name - the full gene name approved by the HGNC.	Bromodomain PHD finger transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BPTF
Synonyms (NCBI Gene) Gene synonyms aliases	FAC1, FALZ, NEDDFL, NURF301
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NEDDFL
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

Show/Hide all(30)

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	21873635
GO:0001892	Process	Embryonic placenta development	IEA
GO:0005515	Function	Protein binding	IPI	14609955, 15640247, 21596426
GO:0005634	Component	Nucleus	IDA	10403843, 14609955
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	TAS	7621746
GO:0006338	Process	Chromatin remodeling	IDA	14609955
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	10575013
GO:0007420	Process	Brain development	IMP	14609955
GO:0007492	Process	Endoderm development	IEA
GO:0008094	Function	DNA-dependent ATPase activity	IDA	14609955
GO:0008134	Function	Transcription factor binding	IDA	10727212
GO:0009611	Process	Response to wounding	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016589	Component	NURF complex	IBA	21873635
GO:0016589	Component	NURF complex	IDA	20850016
GO:0030425	Component	Dendrite	IEA
GO:0035064	Function	Methylated histone binding	IBA	21873635
GO:0042766	Process	Nucleosome mobilization	IBA	21873635
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: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:1990090	Process	Cellular response to nerve growth factor stimulus	IEA

MIM	HGNC	e!Ensembl
601819	3581	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

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

Show/Hide Causal Diseases (17)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	28942966
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)	28942966
Cryptorchidism	Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886	28942966
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	28942966
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077 View all (247 more)	30093612
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391	28942966
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	31326317
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	27501781, 22797724, 31326317
Mental retardation	Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	28942966
Microcephaly	Microcephaly, Secondary microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)	28942966
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	26014595, 18334252, 22366787, 28942966, 18848651, 18974875, 16774993, 9225734, 27513193, 22426308, 16264191, 24700502, 16728978, 18794365, 14609955, 19713963, 22166941, 11583616, 8521501 View all (4 more)
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	28942966
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	rs878853322, rs1135401778, rs1555639411, rs1555652383, rs782736894, rs1555693714, rs1554263625, rs1599044870, rs1598050118	28942966
Patent ductus arteriosus	Patent ductus arteriosus, Patent ductus arteriosus after birth at term	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872	28942966
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25854761
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Source
Unknown
Otitis media	Recurrent otitis media	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Metabolic Syndrome	Metabolic Syndrome	GWAS
Diabetes	Diabetes	GWAS
Mental Depression	Mental Depression	GWAS
Insomnia	Insomnia	GWAS
Heart Failure	Heart Failure	GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	27501781, 28025329, 36529788
Arthritis Rheumatoid	Associate	34079550
Autistic Disorder	Associate	30755392
Brain Diseases	Associate	33522091
Breast Neoplasms	Associate	24884718, 31278301
Carcinoma Adenoid Cystic	Associate	28820917
Carcinoma Non Small Cell Lung	Associate	36529788
Carcinoma Renal Cell	Associate	33232269, 36367018
Colorectal Neoplasms	Associate	35342352
Developmental Disabilities	Associate	30755392
Diabetes Mellitus	Associate	36978091
Diabetic Nephropathies	Associate	36978091
Esophageal Squamous Cell Carcinoma	Associate	34586744
Glioma	Associate	30542695
Glycosuria Renal	Associate	36978091
Hypoxia	Stimulate	36514216
Hypoxia Brain	Stimulate	36514216
Immune System Diseases	Associate	30755392
Leukemia	Associate	37987160
Leukemia Myeloid Acute	Associate	37987160
Lupus Erythematosus Systemic	Associate	34079550
Lymphatic Metastasis	Stimulate	28121349
Melanoma	Associate	27185926
Microcephaly	Associate	30214071
Neoplasm Metastasis	Associate	31278301
Neoplasms	Associate	24121791, 30755392, 31278301
Neoplasms	Stimulate	30542695
Pancreatic Neoplasms	Associate	36068586
Pulmonary Disease Chronic Obstructive	Associate	36514216
Rectal Neoplasms	Associate	24040155
Scoliosis	Associate	33522091
Seizures	Associate	33522091
Stomach Neoplasms	Associate	35421923, 37863665
Vascular Remodeling	Associate	36514216

BPTF (bromodomain PHD finger transcription factor)