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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23522
Gene name	Lysine acetyltransferase 6B
Gene symbol	KAT6B
Synonyms (NCBI Gene)	GTPTSMORFMOZ2MYST4ZC2HC6Bqkfquerkopf
Chromosome	10
Chromosome location	10q22.2
Summary	The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcripti

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886039742	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs886041540	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057516033	G>A	Pathogenic	Splice donor variant
rs1064796000	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796095	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1383727273	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1554835864	AAGA>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554844486	GGGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564515829	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1564516087	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1564628365	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589750251	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1589831585	->CTTT	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1589832003	AACA>-	Pathogenic	Frameshift variant, coding sequence variant

469

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016184	hsa-miR-590-3p	Sequencing	20371350
MIRT018713	hsa-miR-335-5p	Microarray	18185580
MIRT019652	hsa-miR-340-5p	Sequencing	20371350
MIRT036254	hsa-miR-1236-3p	CLASH	23622248
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT1078812	hsa-miR-1197	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT1078814	hsa-miR-1269	CLIP-seq
MIRT1078815	hsa-miR-1269b	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT1078818	hsa-miR-1288	CLIP-seq
MIRT1078819	hsa-miR-1291	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078821	hsa-miR-137	CLIP-seq
MIRT1078822	hsa-miR-1976	CLIP-seq
MIRT1078823	hsa-miR-2113	CLIP-seq
MIRT1078824	hsa-miR-24	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT1078828	hsa-miR-3145-5p	CLIP-seq
MIRT1078829	hsa-miR-3148	CLIP-seq
MIRT1078830	hsa-miR-3159	CLIP-seq
MIRT1078831	hsa-miR-3160-5p	CLIP-seq
MIRT1078832	hsa-miR-3163	CLIP-seq
MIRT1078833	hsa-miR-3202	CLIP-seq
MIRT1078834	hsa-miR-323b-3p	CLIP-seq
MIRT1078835	hsa-miR-328	CLIP-seq
MIRT1078836	hsa-miR-3613-3p	CLIP-seq
MIRT1078837	hsa-miR-361-3p	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078840	hsa-miR-370	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT1078843	hsa-miR-3975	CLIP-seq
MIRT1078844	hsa-miR-425	CLIP-seq
MIRT1078845	hsa-miR-4284	CLIP-seq
MIRT1078846	hsa-miR-4436a	CLIP-seq
MIRT1078847	hsa-miR-4464	CLIP-seq
MIRT1078848	hsa-miR-4501	CLIP-seq
MIRT1078849	hsa-miR-4515	CLIP-seq
MIRT1078850	hsa-miR-4517	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078854	hsa-miR-4668-5p	CLIP-seq
MIRT1078855	hsa-miR-4700-3p	CLIP-seq
MIRT1078856	hsa-miR-4731-3p	CLIP-seq
MIRT1078857	hsa-miR-4740-5p	CLIP-seq
MIRT1078858	hsa-miR-4747-5p	CLIP-seq
MIRT1078859	hsa-miR-4748	CLIP-seq
MIRT1078860	hsa-miR-4752	CLIP-seq
MIRT1078861	hsa-miR-4764-3p	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT1078864	hsa-miR-4800-5p	CLIP-seq
MIRT1078865	hsa-miR-4801	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT1078869	hsa-miR-544	CLIP-seq
MIRT1078870	hsa-miR-548c-3p	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT1078872	hsa-miR-561	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT1078874	hsa-miR-587	CLIP-seq
MIRT1078875	hsa-miR-624	CLIP-seq
MIRT1078876	hsa-miR-662	CLIP-seq
MIRT1078877	hsa-miR-877	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT2019660	hsa-miR-1228	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT1078823	hsa-miR-2113	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT2019662	hsa-miR-302f	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT2019663	hsa-miR-338-5p	CLIP-seq
MIRT2019664	hsa-miR-33a	CLIP-seq
MIRT2019665	hsa-miR-33b	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2019666	hsa-miR-377	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT2019667	hsa-miR-3910	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT2019668	hsa-miR-3944-5p	CLIP-seq
MIRT2019669	hsa-miR-4269	CLIP-seq
MIRT2019670	hsa-miR-4307	CLIP-seq
MIRT2019671	hsa-miR-4484	CLIP-seq
MIRT2019672	hsa-miR-4509	CLIP-seq
MIRT2019673	hsa-miR-450b-5p	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT2019674	hsa-miR-4678	CLIP-seq
MIRT2019675	hsa-miR-4690-5p	CLIP-seq
MIRT2019676	hsa-miR-4693-5p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT2019678	hsa-miR-487b	CLIP-seq
MIRT2019679	hsa-miR-495	CLIP-seq
MIRT2019680	hsa-miR-507	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT2019681	hsa-miR-548an	CLIP-seq
MIRT2019682	hsa-miR-548m	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT2019683	hsa-miR-557	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2019684	hsa-miR-582-5p	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT2019660	hsa-miR-1228	CLIP-seq
MIRT2251519	hsa-miR-1298	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT2251520	hsa-miR-141	CLIP-seq
MIRT2251521	hsa-miR-200a	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT1078823	hsa-miR-2113	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT2019664	hsa-miR-33a	CLIP-seq
MIRT2019665	hsa-miR-33b	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2019666	hsa-miR-377	CLIP-seq
MIRT2251522	hsa-miR-3977	CLIP-seq
MIRT2019670	hsa-miR-4307	CLIP-seq
MIRT2251523	hsa-miR-4480	CLIP-seq
MIRT2019673	hsa-miR-450b-5p	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT2251524	hsa-miR-4520b-3p	CLIP-seq
MIRT2251525	hsa-miR-4529-3p	CLIP-seq
MIRT2251526	hsa-miR-4642	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT2019676	hsa-miR-4693-5p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT2251527	hsa-miR-4722-3p	CLIP-seq
MIRT2251528	hsa-miR-4802-3p	CLIP-seq
MIRT2251529	hsa-miR-501-3p	CLIP-seq
MIRT2251530	hsa-miR-502-3p	CLIP-seq
MIRT2019680	hsa-miR-507	CLIP-seq
MIRT2251531	hsa-miR-509-3p	CLIP-seq
MIRT2019683	hsa-miR-557	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2019684	hsa-miR-582-5p	CLIP-seq
MIRT2251532	hsa-miR-607	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT2554817	hsa-miR-1182	CLIP-seq
MIRT1078812	hsa-miR-1197	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT2554818	hsa-miR-1245b-5p	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT2251519	hsa-miR-1298	CLIP-seq
MIRT2251520	hsa-miR-141	CLIP-seq
MIRT2251521	hsa-miR-200a	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT2554819	hsa-miR-2467-3p	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT2554820	hsa-miR-3121-5p	CLIP-seq
MIRT2554821	hsa-miR-3123	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT2554822	hsa-miR-3142	CLIP-seq
MIRT1078829	hsa-miR-3148	CLIP-seq
MIRT1078830	hsa-miR-3159	CLIP-seq
MIRT1078832	hsa-miR-3163	CLIP-seq
MIRT1078833	hsa-miR-3202	CLIP-seq
MIRT2019663	hsa-miR-338-5p	CLIP-seq
MIRT2554823	hsa-miR-340	CLIP-seq
MIRT1078836	hsa-miR-3613-3p	CLIP-seq
MIRT2554824	hsa-miR-3617	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2554825	hsa-miR-3667-3p	CLIP-seq
MIRT2554826	hsa-miR-3678-3p	CLIP-seq
MIRT2554827	hsa-miR-3688-3p	CLIP-seq
MIRT2554828	hsa-miR-374a	CLIP-seq
MIRT2554829	hsa-miR-374b	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT2554830	hsa-miR-3908	CLIP-seq
MIRT2019667	hsa-miR-3910	CLIP-seq
MIRT2554831	hsa-miR-3919	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT2554832	hsa-miR-3942-5p	CLIP-seq
MIRT2251522	hsa-miR-3977	CLIP-seq
MIRT2554833	hsa-miR-410	CLIP-seq
MIRT1078844	hsa-miR-425	CLIP-seq
MIRT2554834	hsa-miR-4297	CLIP-seq
MIRT2554835	hsa-miR-4304	CLIP-seq
MIRT2554836	hsa-miR-4321	CLIP-seq
MIRT2554837	hsa-miR-4328	CLIP-seq
MIRT1078846	hsa-miR-4436a	CLIP-seq
MIRT2554838	hsa-miR-4457	CLIP-seq
MIRT2019671	hsa-miR-4484	CLIP-seq
MIRT2019672	hsa-miR-4509	CLIP-seq
MIRT1078850	hsa-miR-4517	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT2554839	hsa-miR-4643	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078854	hsa-miR-4668-5p	CLIP-seq
MIRT2554840	hsa-miR-4684-5p	CLIP-seq
MIRT2554841	hsa-miR-4694-3p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT1078855	hsa-miR-4700-3p	CLIP-seq
MIRT2554842	hsa-miR-4703-5p	CLIP-seq
MIRT2554843	hsa-miR-4705	CLIP-seq
MIRT2554844	hsa-miR-4719	CLIP-seq
MIRT2554845	hsa-miR-4728-3p	CLIP-seq
MIRT1078858	hsa-miR-4747-5p	CLIP-seq
MIRT2554846	hsa-miR-4766-3p	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT2251528	hsa-miR-4802-3p	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT2019679	hsa-miR-495	CLIP-seq
MIRT2554847	hsa-miR-513b	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT2554848	hsa-miR-548aa	CLIP-seq
MIRT2019681	hsa-miR-548an	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2019684	hsa-miR-582-5p	CLIP-seq
MIRT2554849	hsa-miR-597	CLIP-seq
MIRT2554850	hsa-miR-610	CLIP-seq
MIRT1078875	hsa-miR-624	CLIP-seq
MIRT2554851	hsa-miR-641	CLIP-seq
MIRT2554852	hsa-miR-642b	CLIP-seq
MIRT2554853	hsa-miR-668	CLIP-seq
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT2554817	hsa-miR-1182	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT2554818	hsa-miR-1245b-5p	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT1078819	hsa-miR-1291	CLIP-seq
MIRT2683176	hsa-miR-1305	CLIP-seq
MIRT2683177	hsa-miR-194	CLIP-seq
MIRT1078822	hsa-miR-1976	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT2554819	hsa-miR-2467-3p	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT2554820	hsa-miR-3121-5p	CLIP-seq
MIRT2554821	hsa-miR-3123	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT2554822	hsa-miR-3142	CLIP-seq
MIRT1078829	hsa-miR-3148	CLIP-seq
MIRT1078830	hsa-miR-3159	CLIP-seq
MIRT1078832	hsa-miR-3163	CLIP-seq
MIRT1078833	hsa-miR-3202	CLIP-seq
MIRT1078835	hsa-miR-328	CLIP-seq
MIRT2019663	hsa-miR-338-5p	CLIP-seq
MIRT1078836	hsa-miR-3613-3p	CLIP-seq
MIRT2554824	hsa-miR-3617	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2683178	hsa-miR-3662	CLIP-seq
MIRT2554825	hsa-miR-3667-3p	CLIP-seq
MIRT2554826	hsa-miR-3678-3p	CLIP-seq
MIRT2554827	hsa-miR-3688-3p	CLIP-seq
MIRT1078840	hsa-miR-370	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT2554830	hsa-miR-3908	CLIP-seq
MIRT2019667	hsa-miR-3910	CLIP-seq
MIRT2554831	hsa-miR-3919	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT2554832	hsa-miR-3942-5p	CLIP-seq
MIRT2554833	hsa-miR-410	CLIP-seq
MIRT2554834	hsa-miR-4297	CLIP-seq
MIRT2554835	hsa-miR-4304	CLIP-seq
MIRT2554836	hsa-miR-4321	CLIP-seq
MIRT2554838	hsa-miR-4457	CLIP-seq
MIRT2019671	hsa-miR-4484	CLIP-seq
MIRT2019672	hsa-miR-4509	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078854	hsa-miR-4668-5p	CLIP-seq
MIRT2554841	hsa-miR-4694-3p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT2554842	hsa-miR-4703-5p	CLIP-seq
MIRT2554844	hsa-miR-4719	CLIP-seq
MIRT2554845	hsa-miR-4728-3p	CLIP-seq
MIRT1078858	hsa-miR-4747-5p	CLIP-seq
MIRT2554846	hsa-miR-4766-3p	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT2251528	hsa-miR-4802-3p	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT2019679	hsa-miR-495	CLIP-seq
MIRT2554847	hsa-miR-513b	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT2683179	hsa-miR-548a-5p	CLIP-seq
MIRT2554848	hsa-miR-548aa	CLIP-seq
MIRT2683180	hsa-miR-548ab	CLIP-seq
MIRT2683181	hsa-miR-548ak	CLIP-seq
MIRT2019681	hsa-miR-548an	CLIP-seq
MIRT2683182	hsa-miR-548b-5p	CLIP-seq
MIRT2683183	hsa-miR-548c-5p	CLIP-seq
MIRT2683184	hsa-miR-548d-5p	CLIP-seq
MIRT2683185	hsa-miR-548h	CLIP-seq
MIRT2683186	hsa-miR-548i	CLIP-seq
MIRT2683187	hsa-miR-548j	CLIP-seq
MIRT2683188	hsa-miR-548n	CLIP-seq
MIRT2683189	hsa-miR-548t	CLIP-seq
MIRT2683190	hsa-miR-548w	CLIP-seq
MIRT2683191	hsa-miR-548y	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT2683192	hsa-miR-559	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2554849	hsa-miR-597	CLIP-seq
MIRT2251532	hsa-miR-607	CLIP-seq
MIRT2554850	hsa-miR-610	CLIP-seq
MIRT1078875	hsa-miR-624	CLIP-seq
MIRT2554851	hsa-miR-641	CLIP-seq
MIRT2554853	hsa-miR-668	CLIP-seq
MIRT2683193	hsa-miR-802	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	NAS	10497217
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11965546
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	IDA	10497217, 11965546
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	11965546
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18794358
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	10497217
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006334	Process	Nucleosome assembly	NAS	10497217
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	18794358
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	10497217
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010484	Function	Histone H3 acetyltransferase activity	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0036408	Function	Histone H3K14 acetyltransferase activity	IDA	16387653
GO:0036408	Function	Histone H3K14 acetyltransferase activity	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10497217
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10497217, 11965546
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050793	Process	Regulation of developmental process	NAS	16387653
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	11965546
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IBA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IDA	16387653, 18794358
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IEA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	ISS
GO:1903706	Process	Regulation of hemopoiesis	NAS	16387653

MIM	HGNC	e!Ensembl
605880	17582	ENSG00000156650

Q8WYB5

Protein name

Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor)

Protein function

Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex

PDB

5U2J , 6OIE , 8E4V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00628	PHD	271 → 320	PHD-finger	Domain
PF17772	zf-MYST	717 → 771	MYST family zinc finger domain	Domain
PF01853	MOZ_SAS	776 → 954	MOZ/SAS family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269|PubMed:10497217}.

Sequence

MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSV
LKVTNKGLASYKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEE
PNGSSLKNIEKYLRSQSDLTSTTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLD
GKGAPQYPSAFPSSLPPVSLLPHEKDQPRADPIPICSFCLGTKESNREKKPEELLSCADC
GSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGRNADNMLFCDSCDRGFHMECC
DPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLKQRLLSVTSDE
GSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI
SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLA
TGTTQKLKPPPSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQL
KALFDGLSHIYTTQGQSRKKGHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISH
SSSSSWGMARGSIFKAIAHFKRTTFLKKHRMLGRLKYKVTPQMGTPSPGKGSLTDGRIKP
DQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQELSWEKIECESGVEDCGRYP
SVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKKCGWFHPPANE
IYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV
GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRL
SYLAYWKSVILEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRR
EKLILSHMEKLKTCSRANELDPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEK
EEQEILSTRANSRQSPAKVQSKNKYLHSPESRPVTGERGQLLELSKESSEEEEEEEDEEE
EEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVAIKRKRPFVLKKKRGRKRRRI
NSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLRKAFQHQPGKK
RQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR
QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLP
QEENRREETCAPVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEK
DPDGAKSQEKEEPEISTEKEDSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVE
KEELPRESFKEVLENQETFLDLNVQPGHSNPEVLMDCGVDLTASCNSEPKELAGDPEAVP
ESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSETVQAVQSLTQESSEQDDTFQ
DCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQSVRSVNSPSVP
ALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY
ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSI
SSPPTCSVKSPQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQ
SDFGAGHYPQPSATFSLAKLQQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQ
LSQSPHSVPGGPQAQATMTPPPNLTPPPMNLPPPLLQRNMAASNIGISHSQRLQTQIASK
GHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLTMQRGMNMSVNLMPAPAYNVN
SVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGTQPYAQQPMQT
PPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR

Sequence length

2073

Interactions

View interactions

	Reactome
			HATs acetylate histones

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 (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Pathogenic	rs369027010	RCV002246470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant KAT6B-related disorders	Likely pathogenic	rs1846100784	RCV001267662	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blepharophimosis - intellectual disability syndrome, SBBYS type	Pathogenic; Likely pathogenic	rs2134165472, rs2134241204, rs2134240789, rs761860621, rs199470480, rs2134240152, rs2133733164, rs2548333540, rs2548332680, rs906740657, rs863224883, rs2549198858, rs2549169772, rs2548990073, rs1554846300 View all (35 more)	RCV004594367 RCV001706921 RCV001754555 RCV002471167 RCV003319322 View all (45 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain small vessel disease 1 with or without ocular anomalies	Pathogenic	rs369027010	RCV002246470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromatinopathy	Likely pathogenic	rs1846182844	RCV001261362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, familial temporal lobe, 1	Pathogenic	rs199470477	RCV002054533	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genitopatellar syndrome	Pathogenic; Likely pathogenic	rs2134234910, rs1842099343, rs1845712748, rs2134235789, rs2134235713, rs2134249204, rs2134240789, rs2134234642, rs2134159675, rs2134239492, rs199470469, rs199470472, rs199470478, rs2134232474, rs2467005062 View all (32 more)	RCV001645000 RCV001335572 RCV001335574 RCV001376024 RCV001382519 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemorrhage, intracerebral, susceptibility to	Pathogenic	rs369027010	RCV002246470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs886041207, rs1554843977, rs1841873265, rs1846247159	RCV001257725 RCV001257637 RCV001257723 RCV001257724	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KAT6B-realted disoder	Pathogenic	rs1564628365	RCV002245583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KAT6B-related disorder	Pathogenic; Likely pathogenic	rs199470472, rs886041207, rs2549182925, rs2549202399, rs2549213434, rs2549182881, rs2549199460, rs1554843815, rs1564628365	RCV005222760 RCV005869196 RCV004545853 RCV004545862 RCV004698882 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KAT6B-related multiple congenital anomalies syndrome	Pathogenic	rs199470484	RCV004786317	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KAT6B-Related Spectrum Disorders	Pathogenic	rs199470470, rs1554845810	RCV006268086 RCV000578421	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KBG syndrome	Pathogenic	rs1564606246	RCV000760264	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Pathogenic	rs369027010	RCV002246470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1381894692, rs2549171488	RCV001374893 RCV001374957	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal arterial tortuosity	Pathogenic	rs369027010	RCV002246470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (49)

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.
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arachnodactyly	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized joint hypermobility	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joint laxity	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHIC SPINAL ARTHROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TWIST1-related craniosynostosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG SIMPSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (148)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26767057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26767057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28024916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar I disorder	Bipolar Disorder	BEFREE	24444492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	PSYGENET_DG	24444492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis	Blepharophimosis	BEFREE	24458743, 25424711, 26334766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis Ptosis and Epicanthus Inversus	Blepharophimosis-ptosis-epicanthus inversus syndrome	Pubtator	24458743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis syndrome Ohdo type	Blepharophimosis-Mental Retardation Syndrome	BEFREE	22077973, 22265014, 22715153, 23395478, 24715367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis syndrome Ohdo type	Blepharophimosis syndrome	Pubtator	23395478, 37658610, 38178270, 39986017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis-intellectual disability syndrome, SBBYS type	Blepharophimosis-Mental Retardation Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	28286003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23800003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34464167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37365518	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	29226580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	11157802, 12619164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37272875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35885957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12893170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of kidney	Renal hypoplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28696035, 28921853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG	26938784		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25920810		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	37658610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	15147375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	25621995, 25875009, 28591699, 31027501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Genitopatellar Syndrome	Genitopatellar Syndrome	CLINVAR_DG	22077973, 25424711, 28696035		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genitopatellar Syndrome	Genitopatellar Syndrome	BEFREE	22265014, 22265017, 22715153, 23436491, 24458743, 25424711, 26334766, 26370006, 27452416, 27696664, 28696035, 28857140, 29226580, 30569622		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genitopatellar Syndrome	Genitopatellar Syndrome	GENOMICS_ENGLAND_DG	22265014, 27031267		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genitopatellar Syndrome	Genitopatellar Syndrome	ORPHANET_DG	22265014, 22265017		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genitopatellar syndrome	Genitopatellar Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genitopatellar Syndrome	Genitopatellar Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27031267, 27880066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	BEFREE	24715367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	22265014, 22265017, 22715153, 23436491, 25424711, 26370006, 27696664, 28696035, 29226580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23436491, 25424711, 27939639, 30790630		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	25424711, 34519438	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
KBG syndrome	KBG Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Keratoconus	Pubtator	34519438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	37658610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	25621995, 25875009, 28591699, 31027501, 35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12893170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23063713, 36754959, 37031220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12619164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11157802, 12619164, 15147375, 15313893, 15657427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23800003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24294372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31310159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26208904, 28286003, 30069049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	24075665, 24698832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	25424711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	29226580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22077973, 22265014, 22715153, 23436491, 25424711, 26334766, 28696035, 29226580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	12542485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15313893, 19602464, 26208904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	21804188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	21804188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24294372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24294372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	22265014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	32448279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26208904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30041677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30041677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31310159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	25424711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	36639835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	27031267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15313893, 25621995, 25875009, 28591699, 31027501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Blepharophimosis-Mental Retardation Syndrome	CLINVAR_DG	22077973, 26938784		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Blepharophimosis-Mental Retardation Syndrome	BEFREE	22715153, 23436491, 26334766, 26370006, 27452416, 27696664, 28857140, 29226580, 30569622		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Blepharophimosis-Mental Retardation Syndrome	ORPHANET_DG	22715153		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Simpson syndrome	Pubtator	23395478, 24458743, 25424711, 34519438, 37658610, 38178270, 39986017, 40441421	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Blepharophimosis-Mental Retardation Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Blepharophimosis-Mental Retardation Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

KAT6B (lysine acetyltransferase 6B)