SRCAP (Snf2 related CREBBP activator protein)

Gene

• Entrez ID: 10847
• Gene name: Snf2 related CREBBP activator protein
• Gene symbol: SRCAP
• Synonyms (NCBI Gene): DEHMBA, DOMO1, EAF1, FLHS, SWR1
• Disease Acronyms (UniProt): DEHMBA, FLHS
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcripti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35892240	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138152469	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141985098	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144476508	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144657822	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146421389	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149628651	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs184337406	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs199469464	C>T	Pathogenic	Stop gained, coding sequence variant
rs199469465	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199469466	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs202139170	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776938	->G	Pathogenic	Frameshift variant, coding sequence variant
rs587777656	C>T	Pathogenic	Stop gained, coding sequence variant
rs587784444	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs758972811	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs770648545	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs926127838	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1085307899	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691316	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1276291921	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1555465891	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555465917	GCTGGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555465928	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555465942	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555465966	C>A	Pathogenic	Stop gained, coding sequence variant
rs1596667741	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596667777	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1596669232	T>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051910	hsa-let-7b-5p	CLASH	23622248
MIRT051752	hsa-let-7c-5p	CLASH	23622248
MIRT050747	hsa-miR-17-3p	CLASH	23622248
MIRT048104	hsa-miR-197-3p	CLASH	23622248
MIRT046182	hsa-miR-27b-3p	CLASH	23622248
MIRT044873	hsa-miR-194-5p	CLASH	23622248
MIRT044623	hsa-miR-320a	CLASH	23622248
MIRT041967	hsa-miR-484	CLASH	23622248
MIRT041967	hsa-miR-484	CLASH	23622248
MIRT040165	hsa-miR-615-3p	CLASH	23622248
MIRT040165	hsa-miR-615-3p	CLASH	23622248
MIRT040165	hsa-miR-615-3p	CLASH	23622248
MIRT038471	hsa-miR-296-3p	CLASH	23622248
MIRT038290	hsa-miR-130b-5p	CLASH	23622248
MIRT037418	hsa-miR-744-5p	CLASH	23622248
MIRT036817	hsa-miR-877-3p	CLASH	23622248
MIRT036303	hsa-miR-1229-3p	CLASH	23622248
MIRT044623	hsa-miR-320a	HITS-CLIP	23313552
MIRT704077	hsa-miR-320b	HITS-CLIP	23313552
MIRT704076	hsa-miR-320c	HITS-CLIP	23313552
MIRT704075	hsa-miR-320d	HITS-CLIP	23313552
MIRT704074	hsa-miR-4429	HITS-CLIP	23313552
MIRT704073	hsa-miR-6776-3p	HITS-CLIP	23313552
MIRT704072	hsa-miR-320e	HITS-CLIP	23313552
MIRT704071	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT704070	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT704069	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT704068	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT704067	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT704066	hsa-miR-3616-3p	HITS-CLIP	23313552
MIRT704065	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT704064	hsa-miR-3135b	HITS-CLIP	23313552
MIRT704063	hsa-miR-1249-5p	HITS-CLIP	23313552
MIRT704062	hsa-miR-6797-5p	HITS-CLIP	23313552
MIRT704061	hsa-miR-9-3p	HITS-CLIP	23313552
MIRT704059	hsa-miR-6515-5p	HITS-CLIP	23313552
MIRT704060	hsa-miR-2113	HITS-CLIP	23313552
MIRT678755	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT678754	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT678753	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT678752	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT678751	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT678750	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT678749	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT678748	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT678747	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT678746	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT678745	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT678744	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT678743	hsa-miR-302e	HITS-CLIP	23824327
MIRT678742	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT678741	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT678740	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT678739	hsa-miR-520b	HITS-CLIP	23824327
MIRT678738	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT678737	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT678736	hsa-miR-520e	HITS-CLIP	23824327
MIRT678735	hsa-miR-1245a	HITS-CLIP	23824327
MIRT678734	hsa-miR-8079	HITS-CLIP	23824327
MIRT678733	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT678732	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT678731	hsa-miR-520h	HITS-CLIP	23824327
MIRT678730	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT678729	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT678728	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678727	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT678726	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT678725	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT678724	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678723	hsa-miR-1913	HITS-CLIP	23824327
MIRT678722	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT678721	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT678720	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT678719	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678718	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678717	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT658833	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658830	hsa-miR-4645-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658825	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT658824	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT658823	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT642123	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT642122	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT642121	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT642120	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT642119	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT642118	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT642117	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT642116	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT642115	hsa-miR-3671	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT498925	hsa-miR-4311	PAR-CLIP	24398324
MIRT498923	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT498924	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498922	hsa-miR-4259	PAR-CLIP	24398324
MIRT498921	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498920	hsa-miR-4784	PAR-CLIP	24398324
MIRT498919	hsa-miR-3188	PAR-CLIP	24398324
MIRT498918	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498917	hsa-miR-4306	PAR-CLIP	24398324
MIRT498916	hsa-miR-4644	PAR-CLIP	24398324
MIRT498915	hsa-miR-765	PAR-CLIP	24398324
MIRT498914	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT498913	hsa-miR-3175	PAR-CLIP	24398324
MIRT498912	hsa-miR-1343-5p	PAR-CLIP	24398324
MIRT498911	hsa-miR-939-5p	PAR-CLIP	24398324
MIRT498910	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT498908	hsa-miR-2110	PAR-CLIP	24398324
MIRT498909	hsa-miR-6810-5p	PAR-CLIP	24398324
MIRT498907	hsa-miR-3150a-3p	PAR-CLIP	24398324
MIRT498906	hsa-miR-6763-5p	PAR-CLIP	24398324
MIRT498905	hsa-miR-6857-5p	PAR-CLIP	24398324
MIRT498904	hsa-miR-450a-2-3p	PAR-CLIP	24398324
MIRT044623	hsa-miR-320a	HITS-CLIP	23313552
MIRT704077	hsa-miR-320b	HITS-CLIP	23313552
MIRT704076	hsa-miR-320c	HITS-CLIP	23313552
MIRT704075	hsa-miR-320d	HITS-CLIP	23313552
MIRT704074	hsa-miR-4429	HITS-CLIP	23313552
MIRT704073	hsa-miR-6776-3p	HITS-CLIP	23313552
MIRT704072	hsa-miR-320e	HITS-CLIP	23313552
MIRT704071	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT704070	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT704069	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT704068	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT704067	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT704066	hsa-miR-3616-3p	HITS-CLIP	23313552
MIRT704065	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT704064	hsa-miR-3135b	HITS-CLIP	23313552
MIRT704063	hsa-miR-1249-5p	HITS-CLIP	23313552
MIRT704062	hsa-miR-6797-5p	HITS-CLIP	23313552
MIRT704061	hsa-miR-9-3p	HITS-CLIP	23313552
MIRT704059	hsa-miR-6515-5p	HITS-CLIP	23313552
MIRT704060	hsa-miR-2113	HITS-CLIP	23313552
MIRT678755	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT678754	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT678753	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT678752	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT678751	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT678750	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT678749	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT678748	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT678747	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT678746	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT678745	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT678744	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT678743	hsa-miR-302e	HITS-CLIP	23824327
MIRT678742	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT678741	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT678740	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT678739	hsa-miR-520b	HITS-CLIP	23824327
MIRT678738	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT678737	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT678736	hsa-miR-520e	HITS-CLIP	23824327
MIRT678735	hsa-miR-1245a	HITS-CLIP	23824327
MIRT678734	hsa-miR-8079	HITS-CLIP	23824327
MIRT678733	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT678732	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT678731	hsa-miR-520h	HITS-CLIP	23824327
MIRT678730	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT678729	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT678728	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678727	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT678726	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT678725	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT678724	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678723	hsa-miR-1913	HITS-CLIP	23824327
MIRT678722	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT678721	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT678720	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT678719	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678718	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678717	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT658833	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658830	hsa-miR-4645-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658825	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT658824	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT658823	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT642123	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT642122	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT642121	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT642120	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT642119	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT642118	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT642117	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT642116	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT642115	hsa-miR-3671	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT498925	hsa-miR-4311	PAR-CLIP	24398324
MIRT498923	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT498924	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498922	hsa-miR-4259	PAR-CLIP	24398324
MIRT498921	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498920	hsa-miR-4784	PAR-CLIP	24398324
MIRT498919	hsa-miR-3188	PAR-CLIP	24398324
MIRT498918	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498917	hsa-miR-4306	PAR-CLIP	24398324
MIRT498916	hsa-miR-4644	PAR-CLIP	24398324
MIRT498915	hsa-miR-765	PAR-CLIP	24398324
MIRT498914	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT498913	hsa-miR-3175	PAR-CLIP	24398324
MIRT498912	hsa-miR-1343-5p	PAR-CLIP	24398324
MIRT498911	hsa-miR-939-5p	PAR-CLIP	24398324
MIRT498910	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT498908	hsa-miR-2110	PAR-CLIP	24398324
MIRT498909	hsa-miR-6810-5p	PAR-CLIP	24398324
MIRT498907	hsa-miR-3150a-3p	PAR-CLIP	24398324
MIRT498906	hsa-miR-6763-5p	PAR-CLIP	24398324
MIRT498905	hsa-miR-6857-5p	PAR-CLIP	24398324
MIRT498904	hsa-miR-450a-2-3p	PAR-CLIP	24398324
MIRT1387697	hsa-miR-1207-3p	CLIP-seq
MIRT1387698	hsa-miR-1297	CLIP-seq
MIRT1387699	hsa-miR-140-5p	CLIP-seq
MIRT1387700	hsa-miR-26a	CLIP-seq
MIRT1387701	hsa-miR-26b	CLIP-seq
MIRT1387702	hsa-miR-3144-5p	CLIP-seq
MIRT1387703	hsa-miR-3185	CLIP-seq
MIRT1387704	hsa-miR-3191	CLIP-seq
MIRT1387705	hsa-miR-3545-5p	CLIP-seq
MIRT1387706	hsa-miR-3612	CLIP-seq
MIRT1387707	hsa-miR-3679-3p	CLIP-seq
MIRT1387708	hsa-miR-4254	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387710	hsa-miR-4443	CLIP-seq
MIRT1387711	hsa-miR-4460	CLIP-seq
MIRT1387712	hsa-miR-4465	CLIP-seq
MIRT1387713	hsa-miR-4640-3p	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT1387716	hsa-miR-4667-5p	CLIP-seq
MIRT1387717	hsa-miR-4700-5p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387719	hsa-miR-4731-5p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT1387721	hsa-miR-491-5p	CLIP-seq
MIRT1387722	hsa-miR-541	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq
MIRT1387724	hsa-miR-624	CLIP-seq
MIRT1387725	hsa-miR-650	CLIP-seq
MIRT1387726	hsa-miR-654-5p	CLIP-seq
MIRT1387727	hsa-miR-9	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT2116143	hsa-miR-3199	CLIP-seq
MIRT2116144	hsa-miR-3202	CLIP-seq
MIRT2116145	hsa-miR-342-5p	CLIP-seq
MIRT2116146	hsa-miR-3682-3p	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2116147	hsa-miR-4664-5p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq
MIRT2116148	hsa-miR-654-3p	CLIP-seq
MIRT1387697	hsa-miR-1207-3p	CLIP-seq
MIRT1387698	hsa-miR-1297	CLIP-seq
MIRT1387699	hsa-miR-140-5p	CLIP-seq
MIRT2338554	hsa-miR-141	CLIP-seq
MIRT2338555	hsa-miR-200a	CLIP-seq
MIRT1387700	hsa-miR-26a	CLIP-seq
MIRT1387701	hsa-miR-26b	CLIP-seq
MIRT2338556	hsa-miR-3064-3p	CLIP-seq
MIRT1387702	hsa-miR-3144-5p	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT1387704	hsa-miR-3191	CLIP-seq
MIRT2116145	hsa-miR-342-5p	CLIP-seq
MIRT1387705	hsa-miR-3545-5p	CLIP-seq
MIRT1387706	hsa-miR-3612	CLIP-seq
MIRT1387707	hsa-miR-3679-3p	CLIP-seq
MIRT1387708	hsa-miR-4254	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT2338557	hsa-miR-4287	CLIP-seq
MIRT2338558	hsa-miR-4292	CLIP-seq
MIRT2338559	hsa-miR-4308	CLIP-seq
MIRT1387710	hsa-miR-4443	CLIP-seq
MIRT1387711	hsa-miR-4460	CLIP-seq
MIRT1387712	hsa-miR-4465	CLIP-seq
MIRT2338560	hsa-miR-4469	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2116147	hsa-miR-4664-5p	CLIP-seq
MIRT1387716	hsa-miR-4667-5p	CLIP-seq
MIRT2338561	hsa-miR-4685-3p	CLIP-seq
MIRT2338562	hsa-miR-4691-3p	CLIP-seq
MIRT1387717	hsa-miR-4700-5p	CLIP-seq
MIRT2338563	hsa-miR-4715-3p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387719	hsa-miR-4731-5p	CLIP-seq
MIRT1387721	hsa-miR-491-5p	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq
MIRT1387724	hsa-miR-624	CLIP-seq
MIRT1387725	hsa-miR-650	CLIP-seq
MIRT2116148	hsa-miR-654-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT2338554	hsa-miR-141	CLIP-seq
MIRT2338555	hsa-miR-200a	CLIP-seq
MIRT2338556	hsa-miR-3064-3p	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT2116143	hsa-miR-3199	CLIP-seq
MIRT2116144	hsa-miR-3202	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2632127	hsa-miR-4679	CLIP-seq
MIRT2338562	hsa-miR-4691-3p	CLIP-seq
MIRT2338563	hsa-miR-4715-3p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT2338554	hsa-miR-141	CLIP-seq
MIRT2338555	hsa-miR-200a	CLIP-seq
MIRT2338556	hsa-miR-3064-3p	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT2116143	hsa-miR-3199	CLIP-seq
MIRT2116144	hsa-miR-3202	CLIP-seq
MIRT2116145	hsa-miR-342-5p	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2116147	hsa-miR-4664-5p	CLIP-seq
MIRT2632127	hsa-miR-4679	CLIP-seq
MIRT2338562	hsa-miR-4691-3p	CLIP-seq
MIRT2338563	hsa-miR-4715-3p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000812	Component	Swr1 complex	IBA	21873635
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	10347196
GO:0004386	Function	Helicase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10347196
GO:0005515	Function	Protein binding	IPI	10702287
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10702287
GO:0005654	Component	Nucleoplasm	IDA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	10347196
GO:0016032	Process	Viral process	IEA
GO:0016458	Process	Gene silencing	IBA	21873635
GO:0016573	Process	Histone acetylation	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0032991	Component	Protein-containing complex	IDA	14966270
GO:0042393	Function	Histone binding	IBA	21873635
GO:0043044	Process	ATP-dependent chromatin remodeling	IBA	21873635
GO:0043486	Process	Histone exchange	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10702287

Other IDs

• MIM: 611421
• HGNC: 16974
• e!Ensembl: ENSG00000080603

Protein

• UniProt ID: Q6ZRS2
• Protein name: Helicase SRCAP (EC 3.6.4.-) (Domino homolog 2) (Snf2-related CBP activator)
• Protein function: Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CRE
• PDB: 6IGM, 8X15, 8X19, 8X1C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07529	HSA	127 → 196	HSA	Domain
  PF00176	SNF2_N	626 → 907	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	2043 → 2156	Helicase conserved C-terminal domain	Family

• Sequence:

  MQSSPSPAHPQLPVLQTQMVSDGMTGSNPVSPASSSSPASSGAGGISPQHIAQDSSLDGP
  PGPPDGATVPLEGFSLSQAADLANKGPKWEKSHAEIAEQAKHEAEIETRIAELRKEGFWS
  LKRLPKVPEPPRPKGHWDYLCEEMQWLSADFAQERRWKRGVARKVVRMVIRHHEEQRQKE
  ERARREEQAKLRRIASTMAKDVRQFWSNVEKVVQFKQQSRLEEKRKKALDLHLDFIVGQT
  EKYSDLLSQSLNQPLTSSKAGSSPCLGSSSAASSPPPPASRLDDEDGDFQPQEDEEEDDE
  ETIEVEEQQEGNDAEAQRREIELLRREGELPLEELLRSLPPQLLEGPSSPSQTPSSHDSD
  TRDGPEEGAEEEPPQVLEIKPPPSAVTQRNKQPWHPDEDDEEFTANEEEAEDEEDTIAAE
  EQLEGEVDHAMELSELAREGELSMEELLQQYAGAYAPGSGSSEDEDEDEVDANSSDCEPE
  GPVEAEEPPQEDSSSQSDSVEDRSEDEEDEHSEEEETSGSSASEESESEESEDAQSQSQA
  DEEEEDDDFGVEYLLARDEEQSEADAGSGPPTPGPTTLGPKKEITDIAAAAESLQPKGYT
  LATTQVKTPIPLLLRGQLREYQHIGLDWLVTMYEKKLNGILADEMGLGKTIQTISLLAHL
  ACEKGNWGPHLIIVPTSVMLNWEMELKRWCPSFKILTYYGAQKERKLKRQGWTKPNAFHV
  CITSYKLVLQDHQAFRRKNWRYLILDEAQNIKNFKSQRWQSLLNFNSQRRLLLTGTPLQN
  SLMELWSLMHFLMPHVFQSHREFKEWFSNPLTGMIEGSQEYNEGLVKRLHKVLRPFLLRR
  VKVDVEKQMPKKYEHVIRCRLSKRQRCLYDDFMAQTTTKETLATGHFMSVINILMQLRKV
  CNHPNLFDPRPVTSPFITPGICFSTASLVLRATDVHPLQRIDMGRFDLIGLEGRVSRYEA
  DTFLPRHRLSRRVLLEVATAPDPPPRPKPVKMKVNRMLQPVPKQEGRTVVVVNNPRAPLG
  PVPVRPPPGPELSAQPTPGPVPQVLPASLMVSASPAGPPLIPASRPPGPVLLPPLQPNSG
  SLPQVLPSPLGVLSGTSRPPTPTLSLKPTPPAPVRLSPAPPPGSSSLLKPLTVPPGYTFP
  PAAATTTSTTTATATTTAVPAPTPAPQRLILSPDMQARLPSGEVVSIGQLASLAQRPVAN
  AGGSKPLTFQIQGNKLTLTGAQVRQLAVGQPRPLQRNVVHLVSAGGQHHLISQPAHVALI
  QAVAPTPGPTPVSVLPSSTPSTTPAPTGLSLPLAANQVPPTMVNNTGVVKIVVRQAPRDG
  LTPVPPLAPAPRPPSSGLPAVLNPRPTLTPGRLPTPTLGTARAPMPTPTLVRPLLKLVHS
  PSPEVSASAPGAAPLTISSPLHVPSSLPGPASSPMPIPNSSPLASPVSSTVSVPLSSSLP
  ISVPTTLPAPASAPLTIPISAPLTVSASGPALLTSVTPPLAPVVPAAPGPPSLAPSGASP
  SASALTLGLATAPSLSSSQTPGHPLLLAPTSSHVPGLNSTVAPACSPVLVPASALASPFP
  SAPNPAPAQASLLAPASSASQALATPLAPMAAPQTAILAPSPAPPLAPLPVLAPSPGAAP
  VLASSQTPVPVMAPSSTPGTSLASASPVPAPTPVLAPSSTQTMLPAPVPSPLPSPASTQT
  LALAPALAPTLGGSSPSQTLSLGTGNPQGPFPTQTLSLTPASSLVPTPAQTLSLAPGPPL
  GPTQTLSLAPAPPLAPASPVGPAPAHTLTLAPASSSASLLAPASVQTLTLSPAPVPTLGP
  AAAQTLALAPASTQSPASQASSLVVSASGAAPLPVTMVSRLPVSKDEPDTLTLRSGPPSP
  PSTATSFGGPRPRRQPPPPPRSPFYLDSLEEKRKRQRSERLERIFQLSEAHGALAPVYGT
  EVLDFCTLPQPVASPIGPRSPGPSHPTFWTYTEAAHRAVLFPQQRLDQLSEIIERFIFVM
  PPVEAPPPSLHACHPPPWLAPRQAAFQEQLASELWPRARPLHRIVCNMRTQFPDLRLIQY
  DCGKLQTLAVLLRQLKAEGHRVLIFTQMTRMLDVLEQFLTYHGHLYLRLDGSTRVEQRQA
  LMERFNADKRIFCFILSTRSGGVGVNLTGADTVVFYDSDWNPTMDAQAQDRCHRIGQTRD
  VHIYRLISERTVEENILKKANQKRMLGDMAIEGGNFTTAYFKQQTIRELFDMPLEEPSSS
  SVPSAPEEEEETVASKQTHILEQALCRAEDEEDIRAATQAKAEQVAELAEFNENDGFPAG
  EGEEAGRPGAEDEEMSRAEQEIAALVEQLTPIERYAMKFLEASLEEVSREELKQAEEQVE
  AARKDLDQAKEEVFRLPQEEEEGPGAGDESSCGTGGGTHRRSKKAKAPERPGTRVSERLR
  GARAETQGANHTPVISAHQTRSTTTPPRCSPARERVPRPAPRPRPTPASAPAAIPALVPV
  PVSAPVPISAPNPITILPVHILPSPPPPSQIPPCSSPACTPPPACTPPPAHTPPPAQTCL
  VTPSSPLLLGPPSVPISASVTNLPLGLRPEAELCAQALASPESLELASVASSETSSLSLV
  PPKDLLPVAVEILPVSEKNLSLTPSAPSLTLEAGSIPNGQEQEAPDSAEGTTLTVLPEGE
  ELPLCVSESNGLELPPSAASDEPLQEPLEADRTSEELTEAKTPTSSPEKPQELVTAEVAA
  PSTSSSATSSPEGPSPARPPRRRTSADVEIRGQGTGRPGQPPGPKVLRKLPGRLVTVVEE
  KELVRRRRQQRGAASTLVPGVSETSASPGSPSVRSMSGPESSPPIGGPCEAAPSSSLPTP
  PQQPFIARRHIELGVTGGGSPENGDGALLAITPPAVKRRRGRPPKKNRSPADAGRGVDEA
  PSSTLKGKTNGADPVPGPETLIVADPVLEPQLIPGPQPLGPQPVHRPNPLLSPVEKRRRG
  RPPKARDLPIPGTISSAGDGNSESRTQPPPHPSPLTPLPPLLVCPTATVANTVTTVTIST
  SPPKRKRGRPPKNPPSPRPSQLPVLDRDSTSVLESCGLGRRRQPQGQGESEGSSSDEDGS
  RPLTRLARLRLEAEGMRGRKSGGSMVVAVIQDDLDLADSGPGGLELTPPVVSLTPKLRST
  RLRPGSLVPPLETEKLPRKRAGAPVGGSPGLAKRGRLQPPSPLGPEGSVEESEAEASGEE
  EEGDGTPRRRPGPRRLVGTTNQGDQRILRSSAPPSLAGPAVSHRGRKAKT

• Sequence length: 3230

Pathways

KEGG:

ATP-dependent chromatin remodeling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Floating-harbor syndrome	Floating-harbor syndrome, Floating-Harbor syndrome	rs199469464, rs199469465, rs199469466, rs587776938, rs587777656, rs587784444, rs1555465891, rs758972811	22965468, 22265015
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25433523, 23621943, 23763483, 26788936, 24970356, 22265015, 23708140, 22965468
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	27363682
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Celiac disease	Celiac Disease			ClinVar
Otitis media	Chronic otitis media, Recurrent otitis media			ClinVar
Trigonocephaly	Trigonocephaly			ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Bipolar Disorder	Associate	34145229
Breast Neoplasms	Associate	35152838
Carcinoma Hepatocellular	Associate	38285876
Cardiomyopathy Dilated	Associate	33517121
Developmental Disabilities	Associate	33909990, 34145229, 35768521
Ear Diseases	Associate	31200758
Epilepsy	Associate	35768521
Facial Dysmorphism with Multiple Malformations	Associate	33909990
Failure to Thrive	Associate	35768521
Floating harbor syndrome	Associate	22265015, 23621943, 25176633, 25433523, 27934915, 31200758, 33099107, 33517121, 33909990, 35768521
Glioblastoma	Associate	26496030
Growth Disorders	Associate	31200758, 33909990
Intellectual Disability	Associate	33909990
Language Development Disorders	Associate	33909990
Leukemia Myeloid Acute	Associate	33351131
Mental Disorders	Associate	33909990
Mood Disorders	Associate	35768521
Muscle Hypotonia	Associate	33909990
Musculoskeletal Diseases	Associate	33909990
Neoplasm Metastasis	Associate	35152838
Neoplasms	Stimulate	38285876
Rett Syndrome	Associate	22265015
Rubinstein Taybi Syndrome	Associate	22265015