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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	29123
Gene name	Ankyrin repeat domain containing 11
Gene symbol	ANKRD11
Synonyms (NCBI Gene)	ANCO-1ANCO1LZ16T13
Chromosome	16
Chromosome location	16q24.3
Summary	This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive cr

164

Show/Hide all (164)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146474985	C>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs199800166	C>T	Likely-pathogenic, likely-benign, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs201589586	G>A,C,T	Likely-pathogenic, likely-benign, uncertain-significance	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs746852311	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs747922528	G>A,C,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs749201074	G>A,C	Likely-benign, likely-pathogenic, pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs749607205	G>A,C	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs749632782	G>A,C	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs761636251	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs761848111	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs763207005	T>A,C,G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs763407068	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs772229371	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs772267579	TTTT>-,TTT,TTTTT	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs779463117	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs780011005	G>A,C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs797044890	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs797044900	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs797045027	CTTT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863223319	C>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs863223320	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863223321	TG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863225257	AC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863225296	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs869312713	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs878855327	G>-,GG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs879253753	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886039477	TT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886039713	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886039734	TTGT>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886039902	TTTTT>-,T,TTTT	Pathogenic, likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041125	GTTTT>-	Pathogenic, likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041486	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041521	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041539	CCTGTCCTTCTT>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041574	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041724	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041760	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041791	G>A,T	Pathogenic, likely-pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886041822	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041829	CTCT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041889	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041942	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041976	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042016	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886042019	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886042029	CTTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs900492387	G>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs929007085	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1057518578	TT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057518663	G>C,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518987	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057519399	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057520565	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1064793539	G>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1064793599	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064794330	CTTT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064794992	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795497	G>A,C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064797012	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1064797050	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1085307544	->T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1114167291	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1131691512	A>C	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant
rs1135401804	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1135401815	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1156815415	G>A,C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs1163944246	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1221781038	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs1250598768	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1283976400	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1364690005	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1381957912	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs1555521779	GCGGTCATACTTGTCAT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555521799	G>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555523580	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555524861	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555524870	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525088	->G	Pathogenic-likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525115	GGCTTCGG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525296	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525476	GGCA>TCT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525517	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525603	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525685	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555525792	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555525917	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555525977	GA>TT	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555526086	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555526796	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555527341	T>-	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555527497	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555527511	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555527929	T>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555528040	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555528354	GTTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555528356	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555528357	ATTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555528400	TT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555528558	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555528717	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555528719	G>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555529052	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529181	GAGT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529297	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555529364	AA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529551	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555529572	GTGCTGGT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529645	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529726	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529734	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529864	GTTTC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555529979	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555530173	C>A	Pathogenic	Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555531314	->CT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555531390	ACGCTCGTTTCTCT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567543920	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1567566026	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567571990	CTTT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567572265	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567573538	GGCAAGT>CAGGACGGA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567574466	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1567578243	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1567579092	TT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567579525	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1567583835	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1567592494	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1567614448	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597389370	G>A	Likely-pathogenic	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1597432871	->G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597433156	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597435393	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597435896	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1597436476	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597440638	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597441359	CAGAGCGTACGGGGC>GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597441860	CTCCGAGGCGC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597443966	->G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597444731	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597445368	GGAGT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597447943	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597449183	->TA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597451815	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597452422	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597453026	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597454239	->GTCT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597454691	CTCTTTGTGTTTGCTTT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597455532	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597455752	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597459077	TCTC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597459152	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597459649	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1597459998	->GCTC	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597460246	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597460545	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1597461100	A>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1597461334	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597462279	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1597463562	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597464360	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597464953	TTTC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597465118	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597465419	AG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1597477691	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

413

Show/Hide all (413)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019021	hsa-miR-335-5p	Microarray	18185580
MIRT027843	hsa-miR-98-5p	Microarray	19088304
MIRT045610	hsa-miR-149-5p	CLASH	23622248
MIRT045278	hsa-miR-186-5p	CLASH	23622248
MIRT041338	hsa-miR-193b-3p	CLASH	23622248
MIRT040440	hsa-miR-615-3p	CLASH	23622248
MIRT035776	hsa-miR-1914-3p	CLASH	23622248
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	20371350
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	20371350
MIRT503160	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT503159	hsa-miR-4698	PAR-CLIP	20371350
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481938	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481936	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT481935	hsa-miR-3609	PAR-CLIP	20371350
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481938	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481936	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT481935	hsa-miR-3609	PAR-CLIP	20371350
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	20371350
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	20371350
MIRT503160	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT503159	hsa-miR-4698	PAR-CLIP	20371350
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481938	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481936	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT481935	hsa-miR-3609	PAR-CLIP	20371350
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT503160	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT503159	hsa-miR-4698	PAR-CLIP	21572407
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT481937	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT481938	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT481937	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT481936	hsa-miR-582-5p	PAR-CLIP	21572407
MIRT481935	hsa-miR-3609	PAR-CLIP	21572407
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	21572407
MIRT481937	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT481938	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT481937	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT481936	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT481935	hsa-miR-3609	PAR-CLIP	22012620
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	23446348
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	23446348
MIRT503160	hsa-miR-651-3p	PAR-CLIP	23446348
MIRT503159	hsa-miR-4698	PAR-CLIP	23446348
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481938	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481936	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481938	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481936	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT481935	hsa-miR-3609	PAR-CLIP	23446348
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	23446348
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	23446348
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	24398324
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	24398324
MIRT503161	hsa-miR-4311	PAR-CLIP	24398324
MIRT503160	hsa-miR-651-3p	PAR-CLIP	24398324
MIRT503159	hsa-miR-4698	PAR-CLIP	24398324
MIRT503158	hsa-miR-4330	PAR-CLIP	24398324
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	24398324
MIRT481937	hsa-miR-101-3p	PAR-CLIP	24398324
MIRT481938	hsa-miR-144-3p	PAR-CLIP	24398324
MIRT481937	hsa-miR-101-3p	PAR-CLIP	24398324
MIRT481936	hsa-miR-582-5p	PAR-CLIP	24398324
MIRT481935	hsa-miR-3609	PAR-CLIP	24398324
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	24398324
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	24398324
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	24398324
MIRT481955	hsa-miR-3714	PAR-CLIP	23592263
MIRT481954	hsa-miR-8066	PAR-CLIP	23592263
MIRT481953	hsa-miR-3154	PAR-CLIP	23592263
MIRT481952	hsa-miR-6508-5p	PAR-CLIP	23592263
MIRT481951	hsa-miR-8067	PAR-CLIP	23592263
MIRT481950	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT481949	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT481948	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT481947	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT481946	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT481945	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT481944	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT481943	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT481942	hsa-miR-4684-3p	PAR-CLIP	23592263
MIRT481941	hsa-miR-548aw	PAR-CLIP	23592263
MIRT481940	hsa-miR-518a-5p	PAR-CLIP	23592263
MIRT481939	hsa-miR-527	PAR-CLIP	23592263
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481938	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481936	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT481935	hsa-miR-3609	PAR-CLIP	23592263
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	23592263
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	23592263
MIRT441230	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT441230	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	20371350
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	20371350
MIRT503160	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT503159	hsa-miR-4698	PAR-CLIP	20371350
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481938	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481936	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT481935	hsa-miR-3609	PAR-CLIP	20371350
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481938	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481936	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT481935	hsa-miR-3609	PAR-CLIP	20371350
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	20371350
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	20371350
MIRT503160	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT503159	hsa-miR-4698	PAR-CLIP	20371350
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481938	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT481937	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT481936	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT481935	hsa-miR-3609	PAR-CLIP	20371350
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT503160	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT503159	hsa-miR-4698	PAR-CLIP	21572407
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT481937	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT481938	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT481937	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT481936	hsa-miR-582-5p	PAR-CLIP	21572407
MIRT481935	hsa-miR-3609	PAR-CLIP	21572407
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	21572407
MIRT481937	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT481938	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT481937	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT481936	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT481935	hsa-miR-3609	PAR-CLIP	22012620
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	23446348
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	23446348
MIRT503160	hsa-miR-651-3p	PAR-CLIP	23446348
MIRT503159	hsa-miR-4698	PAR-CLIP	23446348
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481938	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481936	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481938	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT481936	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT481935	hsa-miR-3609	PAR-CLIP	23446348
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	23446348
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	23446348
MIRT503163	hsa-miR-365a-3p	PAR-CLIP	24398324
MIRT503162	hsa-miR-365b-3p	PAR-CLIP	24398324
MIRT503161	hsa-miR-4311	PAR-CLIP	24398324
MIRT503160	hsa-miR-651-3p	PAR-CLIP	24398324
MIRT503159	hsa-miR-4698	PAR-CLIP	24398324
MIRT503158	hsa-miR-4330	PAR-CLIP	24398324
MIRT503157	hsa-miR-6809-5p	PAR-CLIP	24398324
MIRT481937	hsa-miR-101-3p	PAR-CLIP	24398324
MIRT481938	hsa-miR-144-3p	PAR-CLIP	24398324
MIRT481937	hsa-miR-101-3p	PAR-CLIP	24398324
MIRT481936	hsa-miR-582-5p	PAR-CLIP	24398324
MIRT481935	hsa-miR-3609	PAR-CLIP	24398324
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	24398324
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	24398324
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	24398324
MIRT481955	hsa-miR-3714	PAR-CLIP	23592263
MIRT481954	hsa-miR-8066	PAR-CLIP	23592263
MIRT481953	hsa-miR-3154	PAR-CLIP	23592263
MIRT481952	hsa-miR-6508-5p	PAR-CLIP	23592263
MIRT481951	hsa-miR-8067	PAR-CLIP	23592263
MIRT481950	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT481949	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT481948	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT481947	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT481946	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT481945	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT481944	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT481943	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT481942	hsa-miR-4684-3p	PAR-CLIP	23592263
MIRT481941	hsa-miR-548aw	PAR-CLIP	23592263
MIRT481940	hsa-miR-518a-5p	PAR-CLIP	23592263
MIRT481939	hsa-miR-527	PAR-CLIP	23592263
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481938	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT481937	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481936	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT481935	hsa-miR-3609	PAR-CLIP	23592263
MIRT481934	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481932	hsa-miR-4699-3p	PAR-CLIP	23592263
MIRT481933	hsa-miR-4766-5p	PAR-CLIP	23592263
MIRT782428	hsa-miR-101	CLIP-seq
MIRT782429	hsa-miR-1184	CLIP-seq
MIRT782430	hsa-miR-1205	CLIP-seq
MIRT782431	hsa-miR-1289	CLIP-seq
MIRT782432	hsa-miR-1297	CLIP-seq
MIRT782433	hsa-miR-136	CLIP-seq
MIRT782434	hsa-miR-142-3p	CLIP-seq
MIRT782435	hsa-miR-144	CLIP-seq
MIRT782436	hsa-miR-1470	CLIP-seq
MIRT782437	hsa-miR-149	CLIP-seq
MIRT782438	hsa-miR-203	CLIP-seq
MIRT782439	hsa-miR-26a	CLIP-seq
MIRT782440	hsa-miR-26b	CLIP-seq
MIRT782441	hsa-miR-3137	CLIP-seq
MIRT782442	hsa-miR-3138	CLIP-seq
MIRT782443	hsa-miR-3140-5p	CLIP-seq
MIRT782444	hsa-miR-3158-5p	CLIP-seq
MIRT782445	hsa-miR-3163	CLIP-seq
MIRT782446	hsa-miR-3186-3p	CLIP-seq
MIRT782447	hsa-miR-3192	CLIP-seq
MIRT782448	hsa-miR-3611	CLIP-seq
MIRT782449	hsa-miR-365	CLIP-seq
MIRT782450	hsa-miR-3657	CLIP-seq
MIRT782451	hsa-miR-3941	CLIP-seq
MIRT782452	hsa-miR-410	CLIP-seq
MIRT782453	hsa-miR-4255	CLIP-seq
MIRT782454	hsa-miR-4289	CLIP-seq
MIRT782455	hsa-miR-4465	CLIP-seq
MIRT782456	hsa-miR-4505	CLIP-seq
MIRT782457	hsa-miR-4643	CLIP-seq
MIRT782458	hsa-miR-466	CLIP-seq
MIRT782459	hsa-miR-4667-3p	CLIP-seq
MIRT782460	hsa-miR-4669	CLIP-seq
MIRT782461	hsa-miR-4672	CLIP-seq
MIRT782462	hsa-miR-4775	CLIP-seq
MIRT782463	hsa-miR-4788	CLIP-seq
MIRT782464	hsa-miR-4789-3p	CLIP-seq
MIRT782465	hsa-miR-493	CLIP-seq
MIRT782466	hsa-miR-498	CLIP-seq
MIRT782467	hsa-miR-515-5p	CLIP-seq
MIRT782468	hsa-miR-545	CLIP-seq
MIRT782469	hsa-miR-548a-3p	CLIP-seq
MIRT782470	hsa-miR-548ah	CLIP-seq
MIRT782471	hsa-miR-548e	CLIP-seq
MIRT782472	hsa-miR-548f	CLIP-seq
MIRT782473	hsa-miR-548g	CLIP-seq
MIRT782474	hsa-miR-548k	CLIP-seq
MIRT782475	hsa-miR-548n	CLIP-seq
MIRT782476	hsa-miR-548p	CLIP-seq
MIRT782477	hsa-miR-590-3p	CLIP-seq
MIRT782478	hsa-miR-760	CLIP-seq
MIRT782428	hsa-miR-101	CLIP-seq
MIRT1930958	hsa-miR-1207-3p	CLIP-seq
MIRT782432	hsa-miR-1297	CLIP-seq
MIRT1930959	hsa-miR-1307	CLIP-seq
MIRT782434	hsa-miR-142-3p	CLIP-seq
MIRT782435	hsa-miR-144	CLIP-seq
MIRT782436	hsa-miR-1470	CLIP-seq
MIRT782437	hsa-miR-149	CLIP-seq
MIRT1930960	hsa-miR-1913	CLIP-seq
MIRT1930961	hsa-miR-1976	CLIP-seq
MIRT782438	hsa-miR-203	CLIP-seq
MIRT782439	hsa-miR-26a	CLIP-seq
MIRT782440	hsa-miR-26b	CLIP-seq
MIRT782441	hsa-miR-3137	CLIP-seq
MIRT782442	hsa-miR-3138	CLIP-seq
MIRT782443	hsa-miR-3140-5p	CLIP-seq
MIRT782445	hsa-miR-3163	CLIP-seq
MIRT1930962	hsa-miR-324-3p	CLIP-seq
MIRT1930963	hsa-miR-3529	CLIP-seq
MIRT782448	hsa-miR-3611	CLIP-seq
MIRT1930964	hsa-miR-3648	CLIP-seq
MIRT1930965	hsa-miR-3675-5p	CLIP-seq
MIRT1930966	hsa-miR-379	CLIP-seq
MIRT1930967	hsa-miR-383	CLIP-seq
MIRT782452	hsa-miR-410	CLIP-seq
MIRT782453	hsa-miR-4255	CLIP-seq
MIRT1930968	hsa-miR-4283	CLIP-seq
MIRT782454	hsa-miR-4289	CLIP-seq
MIRT1930969	hsa-miR-4313	CLIP-seq
MIRT1930970	hsa-miR-4451	CLIP-seq
MIRT782455	hsa-miR-4465	CLIP-seq
MIRT1930971	hsa-miR-4489	CLIP-seq
MIRT782456	hsa-miR-4505	CLIP-seq
MIRT1930972	hsa-miR-4649-3p	CLIP-seq
MIRT1930973	hsa-miR-4650-3p	CLIP-seq
MIRT1930974	hsa-miR-4660	CLIP-seq
MIRT1930975	hsa-miR-4722-3p	CLIP-seq
MIRT1930976	hsa-miR-4733-3p	CLIP-seq
MIRT1930977	hsa-miR-4749-3p	CLIP-seq
MIRT1930978	hsa-miR-4772-5p	CLIP-seq
MIRT782462	hsa-miR-4775	CLIP-seq
MIRT782463	hsa-miR-4788	CLIP-seq
MIRT782465	hsa-miR-493	CLIP-seq
MIRT782466	hsa-miR-498	CLIP-seq
MIRT782467	hsa-miR-515-5p	CLIP-seq
MIRT782468	hsa-miR-545	CLIP-seq
MIRT782469	hsa-miR-548a-3p	CLIP-seq
MIRT782471	hsa-miR-548e	CLIP-seq
MIRT782472	hsa-miR-548f	CLIP-seq
MIRT782473	hsa-miR-548g	CLIP-seq
MIRT782474	hsa-miR-548k	CLIP-seq
MIRT782475	hsa-miR-548n	CLIP-seq
MIRT782476	hsa-miR-548p	CLIP-seq
MIRT782477	hsa-miR-590-3p	CLIP-seq
MIRT1930979	hsa-miR-758	CLIP-seq
MIRT782478	hsa-miR-760	CLIP-seq
MIRT782428	hsa-miR-101	CLIP-seq
MIRT2171537	hsa-miR-1208	CLIP-seq
MIRT782432	hsa-miR-1297	CLIP-seq
MIRT2171538	hsa-miR-1299	CLIP-seq
MIRT782434	hsa-miR-142-3p	CLIP-seq
MIRT782435	hsa-miR-144	CLIP-seq
MIRT782439	hsa-miR-26a	CLIP-seq
MIRT782440	hsa-miR-26b	CLIP-seq
MIRT782441	hsa-miR-3137	CLIP-seq
MIRT782442	hsa-miR-3138	CLIP-seq
MIRT782445	hsa-miR-3163	CLIP-seq
MIRT2171539	hsa-miR-3197	CLIP-seq
MIRT2171540	hsa-miR-3202	CLIP-seq
MIRT782448	hsa-miR-3611	CLIP-seq
MIRT2171541	hsa-miR-3612	CLIP-seq
MIRT2171542	hsa-miR-3619-3p	CLIP-seq
MIRT1930965	hsa-miR-3675-5p	CLIP-seq
MIRT2171543	hsa-miR-378	CLIP-seq
MIRT2171544	hsa-miR-378b	CLIP-seq
MIRT2171545	hsa-miR-378c	CLIP-seq
MIRT2171546	hsa-miR-378d	CLIP-seq
MIRT2171547	hsa-miR-378e	CLIP-seq
MIRT2171548	hsa-miR-378f	CLIP-seq
MIRT2171549	hsa-miR-378h	CLIP-seq
MIRT2171550	hsa-miR-378i	CLIP-seq
MIRT2171551	hsa-miR-3926	CLIP-seq
MIRT782452	hsa-miR-410	CLIP-seq
MIRT2171552	hsa-miR-422a	CLIP-seq
MIRT782453	hsa-miR-4255	CLIP-seq
MIRT1930968	hsa-miR-4283	CLIP-seq
MIRT782454	hsa-miR-4289	CLIP-seq
MIRT2171553	hsa-miR-4443	CLIP-seq
MIRT782455	hsa-miR-4465	CLIP-seq
MIRT2171554	hsa-miR-4480	CLIP-seq
MIRT1930971	hsa-miR-4489	CLIP-seq
MIRT782456	hsa-miR-4505	CLIP-seq
MIRT2171555	hsa-miR-452	CLIP-seq
MIRT2171556	hsa-miR-4533	CLIP-seq
MIRT2171557	hsa-miR-4534	CLIP-seq
MIRT2171558	hsa-miR-4638-3p	CLIP-seq
MIRT2171559	hsa-miR-4676-3p	CLIP-seq
MIRT2171560	hsa-miR-4776-5p	CLIP-seq
MIRT782463	hsa-miR-4788	CLIP-seq
MIRT2171561	hsa-miR-4802-5p	CLIP-seq
MIRT782465	hsa-miR-493	CLIP-seq
MIRT782466	hsa-miR-498	CLIP-seq
MIRT2171562	hsa-miR-519a	CLIP-seq
MIRT2171563	hsa-miR-519b-3p	CLIP-seq
MIRT2171564	hsa-miR-519c-3p	CLIP-seq
MIRT782468	hsa-miR-545	CLIP-seq
MIRT782469	hsa-miR-548a-3p	CLIP-seq
MIRT782470	hsa-miR-548ah	CLIP-seq
MIRT782471	hsa-miR-548e	CLIP-seq
MIRT782472	hsa-miR-548f	CLIP-seq
MIRT782473	hsa-miR-548g	CLIP-seq
MIRT782474	hsa-miR-548k	CLIP-seq
MIRT782475	hsa-miR-548n	CLIP-seq
MIRT782476	hsa-miR-548p	CLIP-seq
MIRT2171565	hsa-miR-548s	CLIP-seq
MIRT2171566	hsa-miR-622	CLIP-seq
MIRT2171567	hsa-miR-650	CLIP-seq
MIRT2171568	hsa-miR-663b	CLIP-seq
MIRT1930979	hsa-miR-758	CLIP-seq
MIRT782478	hsa-miR-760	CLIP-seq
MIRT2171569	hsa-miR-875-3p	CLIP-seq
MIRT782428	hsa-miR-101	CLIP-seq
MIRT782435	hsa-miR-144	CLIP-seq
MIRT782463	hsa-miR-4788	CLIP-seq
MIRT782468	hsa-miR-545	CLIP-seq
MIRT782475	hsa-miR-548n	CLIP-seq
MIRT782476	hsa-miR-548p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	21782149
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IMP	21782149
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IMP	21782149
GO:0060323	Process	Head morphogenesis	IEA
GO:0060324	Process	Face development	IEA
GO:0060325	Process	Face morphogenesis	IMP	21782149

MIM	HGNC	e!Ensembl
611192	21316	ENSG00000167522

Q6UB99

Protein name

Ankyrin repeat domain-containing protein 11 (Ankyrin repeat-containing cofactor 1)

Protein function

Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transac

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	145 → 231	Ankyrin repeats (3 copies)	Repeat
PF13857	Ank_5	220 → 274		Repeat

Sequence

MPKGGCPKAPQQEELPLSSDMVEKQTGKKDKDKVSLTKTPKLERGDGGKEVRERASKRKL
PFTAGANGEQKDSDTEKQGPERKRIKKEPVTRKAGLLFGMGLSGIRAGYPLSERQQVALL
MQMTAEESANSPVDTTPKHPSQSTVCQKGTPNSASKTKDKVNKRNERGETRLHRAAIRGD
ARRIKELISEGADVNVKDFAGWTALHEACNRGYYDVAKQLLAAGAEVNTKGLDDDTPLHD
AANNGHYKVVKLLLRYGGNPQQSNRKGETPLKVANSPTMVNLLLGKGTYTSSEESSTESS
EEEDAPSFAPSSSVDGNNTDSEFEKGLKHKAKNPEPQKATAPVKDEYEFDEDDEQDRVPP
VDDKHLLKKDYRKETKSNSFISIPKMEVKSYTKNNTIAPKKASHRILSDTSDEEDASVTV
GTGEKLRLSAHTILPGSKTREPSNAKQQKEKNKVKKKRKKETKGREVRFGKRSDKFCSSE
SESESSESGEDDRDSLGSSGCLKGSPLVLKDPSLFSSLSASSTSSHGSSAAQKQNPSHTD
QHTKHWRTDNWKTISSPAWSEVSSLSDSTRTRLTSESDYSSEGSSVESLKPVRKRQEHRK
RASLSEKKSPFLSSAEGAVPKLDKEGKVVKKHKTKHKHKNKEKGQCSISQELKLKSFTYE
YEDSKQKSDKAILLENDLSTENKLKVLKHDRDHFKKEEKLSKMKLEEKEWLFKDEKSLKR
IKDTNKDISRSFREEKDRSNKAEKERSLKEKSPKEEKLRLYKEERKKKSKDRPSKLEKKN
DLKEDKISKEKEKIFKEDKEKLKKEKVYREDSAFDEYCNKNQFLENEDTKFSLSDDQRDR
WFSDLSDSSFDFKGEDSWDSPVTDYRDMKSDSVAKLILETVKEDSKERRRDSRAREKRDY
REPFFRKKDRDYLDKNSEKRKEQTEKHKSVPGYLSEKDKKRRESAEAGRDRKDALESCKE
RRDGRAKPEEAHREELKECGCESGFKDKSDGDFGKGLEPWERHHPAREKEKKDGPDKERK
EKTKPERYKEKSSDKDKSEKSILEKCQKDKEFDKCFKEKKDTKEKHKDTHGKDKERKASL
DQGKEKKEKAFPGIISEDFSEKKDDKKGKEKSWYIADIFTDESEDDRDSCMGSGFKMGEA
SDLPRTDGLQEKEEGREAYASDRHRKSSDKQHPERQKDKEPRDRRKDRGAADAGRDKKEK
VFEKHKEKKDKESTEKYKDRKDRASVDSTQDKKNKQKLPEKAEKKHAAEDKAKSKHKEKS
DKEHSKERKSSRSADAEKSLLEKLEEEALHEYREDSNDKISEVSSDSFTDRGQEPGLTAF
LEVSFTEPPGDDKPRESACLPEKLKEKERHRHSSSSSKKSHDRERAKKEKAEKKEKGEDY
KEGGSRKDSGQYEKDFLEADAYGVSYNMKADIEDELDKTIELFSTEKKDKNDSEREPSKK
IEKELKPYGSSAINILKEKKKREKHREKWRDEKERHRDRHADGLLRHHRDELLRHHRDEQ
KPATRDKDSPPRVLKDKSRDEGPRLGDAKLKEKFKDGAEKEKGDPVKMSNGNDKVAPSKD
PGKKDARPREKLLGDGDLMMTSFERMLSQKDLEIEERHKRHKERMKQMEKLRHRSGDPKL
KEKAKPADDGRKKGLDIPAKKPPGLDPPFKDKKLKESTPIPPAAENKLHPASGADSKDWL
AGPHMKEVLPASPRPDQSRPTGVPTPTSVLSCPSYEEVMHTPRTPSCSADDYADLVFDCA
DSQHSTPVPTAPTSACSPSFFDRFSVASSGLSENASQAPARPLSTNLYRSVSVDIRRTPE
EEFSVGDKLFRQQSVPAASSYDSPMPPSMEDRAPLPPVPAEKFACLSPGYYSPDYGLPSP
KVDALHCPPAAVVTVTPSPEGVFSSLQAKPSPSPRAELLVPSLEGALPPDLDTSEDQQAT
AAIIPPEPSYLEPLDEGPFSAVITEEPVEWAHPSEQALASSLIGGTSENPVSWPVGSDLL
LKSPQRFPESPKRFCPADPLHSAAPGPFSASEAPYPAPPASPAPYALPVAEPGLEDVKDG
VDAVPAAISTSEAAPYAPPSGLESFFSNCKSLPEAPLDVAPEPACVAAVAQVEALGPLEN
SFLDGSRGLSHLGQVEPVPWADAFAGPEDDLDLGPFSLPELPLQTKDAADGEAEPVEESL
APPEEMPPGAPGVINGGDVSTVVAEEPPALPPDQASTRLPAELEPEPSGEPKLDVALEAA
VEAETVPEERARGDPDSSVEPAPVPPEQRPLGSGDQGAEAEGPPAASLCAPDGPAPNTVA
QAQAADGAGPEDDTEASRAAAPAEGPPGGIQPEAAEPKPTAEAPKAPRVEEIPQRMTRNR
AQMLANQSKQGPPPSEKECAPTPAPVTRAKARGSEDDDAQAQHPRKRRFQRSTQQLQQQL
NTSTQQTREVIQQTLAAIVDAIKLDAIEPYHSDRANPYFEYLQIRKKIEEKRKILCCITP
QAPQCYAEYVTYTGSYLLDGKPLSKLHIPVIAPPPSLAEPLKELFRQQEAVRGKLRLQHS
IEREKLIVSCEQEILRVHCRAARTIANQAVPFSACTMLLDSEVYNMPLESQGDENKSVRD
RFNARQFISWLQDVDDKYDRMKTCLLMRQQHEAAALNAVQRMEWQLKVQELDPAGHKSLC
VNEVPSFYVPMVDVNDDFVLLPA

Sequence length

2663

Interactions

View interactions

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)

Show/Hide Causal Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs886041125	RCV001003618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2151703086, rs772267579	RCV001814559 RCV001003617	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANKRD11-related disorder	Pathogenic; Likely pathogenic	rs886041942, rs886039902, rs886041125, rs2544230218, rs1567537296, rs2544222373, rs2544233232, rs763414376, rs2544235864, rs2544225964, rs2544238498, rs1597459077, rs146294483, rs2544240139, rs2544178578 View all (5 more)	RCV003416307 RCV004739645 RCV004739647 RCV003900990 RCV003900993 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromatinopathy	Likely pathogenic	rs2035028859	RCV001261254	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conductive hearing impairment	Likely pathogenic; Pathogenic	rs886041125	RCV001003618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased total neutrophil count	Likely pathogenic	rs2151736830	RCV001733811	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Likely pathogenic; Pathogenic	rs886041125	RCV001003618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic; Likely pathogenic	rs2544242786, rs752918694	RCV003128077 RCV003127628	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EBV-positive nodal T- and NK-cell lymphoma	Pathogenic	rs1555524784	RCV004558920	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic	rs878855327	RCV005422869	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs797045027, rs886039902, rs886041125, rs1364690005, rs780011005, rs1597464953, rs749201074, rs2151728875, rs2151729118, rs2151729404, rs371204323, rs764501022, rs2151752804, rs2151754276, rs2151763044, rs2151766822 View all (1 more)	RCV001376674 RCV001376675 RCV001003618 RCV001376681 RCV001376676 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2034289118, rs2151733047, rs886041521, rs886041125, rs1064793539, rs1555525088, rs749632782, rs2033955113, rs2033996047, rs2034340511, rs2034440990, rs2034490973, rs1411134954, rs2034590529, rs2034054366, rs2034487965 View all (1 more)	RCV001328487 RCV001526606 RCV001003616 RCV001249513 RCV001249507 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	Pathogenic; Likely pathogenic	rs2034368063, rs1298649064, rs2034378960, rs572878194, rs1555526636, rs2034182420, rs2034450158, rs2151746362, rs2151750068, rs2151753014, rs886041942, rs2151742756, rs2151703297, rs2151743944, rs2151756343 View all (298 more)	RCV002275349 RCV001330445 RCV001328684 RCV001333694 RCV001333690 View all (318 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Moderate intellectual deficiency	Pathogenic	rs1057518987	RCV000415439	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic short statue	Pathogenic	rs929007085	RCV005865444	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs2151736830	RCV001733811	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs886041125	RCV002274005	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2151732245, rs2151732133, rs2151730424, rs2544223064, rs2544227866, rs1597454239	RCV001780073 RCV002277650 RCV002277677 RCV003389170 RCV003389177 RCV000787363 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Pathogenic; Likely pathogenic	rs797045027, rs886039477, rs886041125, rs878855327, rs2544223937, rs2544237769	RCV001256986 RCV001257013 RCV001256985 RCV001256981 RCV001256993 RCV001257006 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs886041125	RCV001003618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sudden unexplained death in childhood	Likely pathogenic; Pathogenic	rs2033536147	RCV001788440	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (69)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
16Q24.3 MICRODELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTIGMATISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical behavior	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLINODACTYLY OF THE 5TH FINGER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTIVE HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL RETROGNATHISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM, UNILATERAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOTROPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hand tremor	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
Macrocephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METABOLIC BONE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (136)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alveolar capillary dysplasia	Alveolar capillary dysplasia	BEFREE	23335808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	28422132	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	39346806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18252227, 19920853, 25424714, 28422132	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18252227, 23335808, 23494856		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	18252227		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19920853, 25187894, 29274743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	19920853, 25574603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	19920853, 28422132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	37800809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21986947, 22538187, 24678732, 31788936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24678732, 31788936, 37414914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31788936	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31265121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	CLINVAR_DG			★★★★★ ★☆☆☆☆ 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			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CODAS syndrome	Codas syndrome	Pubtator	36440975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19920853, 28422132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss, bilateral	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33955014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	23184435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28422132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation of the left heart	Congenital malformation of the left heart	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	36789878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	25652421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniodiaphyseal Dysplasia Autosomal Dominant	Craniodiaphyseal dysplasia	Pubtator	27955658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
De Lange Syndrome	De lange syndrome	Pubtator	25125236, 25652421, 31911672, 33955014, 34617417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25424714, 27667800, 27955658, 30786142, 31088393, 31911672, 33955014, 35833929	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22307766, 28422132, 30786142, 31566922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15184363, 15523620, 17163996, 17230487, 17508425, 17526801, 21782149, 23184435, 23494856, 23885231, 25125236, 25413698, 25424714, 25652421, 27435318, 27667800, 28422132 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	37501353	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Excessive tearing	Excessive Tearing	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	19920853, 28422132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	30642272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27605097, 27667800, 30786142		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Growth Disorders	Growth disorder	Pubtator	27667800, 28422132, 30786142, 31566922, 33354850, 37605180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	39346806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	25424714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28422132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32037394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	25424714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	19920853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21782149, 28250421, 28422132, 31088393, 31566922, 32604767, 33048330, 33955014, 36440975	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	23335808, 25413698, 27605097, 28250421, 29274743		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	37800809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	24838796		★★★★★ ★☆☆☆☆ Found in Text Mining only
KBG syndrome	KBG Syndrome	CLINGEN_DG	17986521, 21782149, 25424714, 25464108, 25543316, 25556659, 27605097, 27900361, 28449295, 30088855		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	BEFREE	21782149, 22307766, 23184435, 23369839, 23463723, 23494856, 24838796, 25125236, 25187894, 25413698, 25424714, 25464108, 27605097, 27667800, 28250421 View all (9 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	CLINVAR_DG	21782149, 26633545, 27605097, 27667800, 27824329		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	UNIPROT_DG	21782149, 25413698		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	ORPHANET_DG	21782149, 23184435		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	GENOMICS_ENGLAND_DG	21782149, 27900361, 28250421		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	KBG Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney disease	Pubtator	33048330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	32604767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	BEFREE	25413698, 25464108, 28422132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21986947, 22538187, 24678732, 31788936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31265121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29696793		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	GWASDB_DG	21706340		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	17986521		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	28422132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15184363, 15523620, 17163996, 17230487, 17508425, 17526801, 21782149, 23184435, 23494856, 23885231, 25125236, 25356970, 25413698, 25424714, 25652421, 27435318, 27667800, 28422132 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22538187, 29696793, 31788927, 31788936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25424714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CTD_human_DG	17986521		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31265121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31265121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	28422132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	28250421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	28422132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	39346806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28474731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	37584388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ANKRD11 (ankyrin repeat domain containing 11)